Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94283840C>ACA377652430PLCE1,PLCE1-AS1c.3922C>A (p.Gln1308Lys)
c.*1389C>A (n.*1389C>A)
n.1581C>A
c.*130C>A (n.*130C>A)
c.3874C>A (p.Gln1292Lys)
n.9054C>A
n.2519C>A
c.4846C>A (p.Gln1616Lys)
c.4798C>A (p.Gln1600Lys)
c.3820C>A (p.Gln1274Lys)
c.3401C>A
c.2962C>A (p.Gln988Lys)
c.*779C>A (n.*779C>A)
c.4115C>A
c.3691C>A (p.Gln1231Lys)
n.231-354G>T
c.4888C>A (p.Gln1630Lys)
c.4885C>A (p.Gln1629Lys)
c.4840C>A (p.Gln1614Lys)
c.3964C>A (p.Gln1322Lys)
c.3733C>A (p.Gln1245Lys)
10g.94283840C=CA1928990318PLCE1,PLCE1-AS1c.3922C= (p.Gln1308=)
c.*1389C= (n.*1389C=)
n.1581C=
c.*130C= (n.*130C=)
c.3874C= (p.Gln1292=)
n.9054C=
n.2519C=
c.4846C= (p.Gln1616=)
c.4798C= (p.Gln1600=)
c.3820C= (p.Gln1274=)
c.3401C=
c.2962C= (p.Gln988=)
c.*779C= (n.*779C=)
c.4115C=
c.3691C= (p.Gln1231=)
n.231-354G=
c.4888C= (p.Gln1630=)
c.4885C= (p.Gln1629=)
c.4840C= (p.Gln1614=)
c.3964C= (p.Gln1322=)
c.3733C= (p.Gln1245=)
10g.94283840C>GCA377652431PLCE1,PLCE1-AS1c.3922C>G (p.Gln1308Glu)
c.*1389C>G (n.*1389C>G)
n.1581C>G
c.*130C>G (n.*130C>G)
c.3874C>G (p.Gln1292Glu)
n.9054C>G
n.2519C>G
c.4846C>G (p.Gln1616Glu)
c.4798C>G (p.Gln1600Glu)
c.3820C>G (p.Gln1274Glu)
c.3401C>G
c.2962C>G (p.Gln988Glu)
c.*779C>G (n.*779C>G)
c.4115C>G
c.3691C>G (p.Gln1231Glu)
n.231-354G>C
c.4888C>G (p.Gln1630Glu)
c.4885C>G (p.Gln1629Glu)
c.4840C>G (p.Gln1614Glu)
c.3964C>G (p.Gln1322Glu)
c.3733C>G (p.Gln1245Glu)
10g.94283840C>TCA115494PLCE1,PLCE1-AS1c.3922C>T (p.Gln1308Ter)
c.*1389C>T (n.*1389C>T)
n.1581C>T
c.*130C>T (n.*130C>T)
c.3874C>T (p.Gln1292Ter)
n.9054C>T
n.2519C>T
c.4846C>T (p.Gln1616Ter)
c.4798C>T (p.Gln1600Ter)
c.3820C>T (p.Gln1274Ter)
c.3401C>T
c.2962C>T (p.Gln988Ter)
c.*779C>T (n.*779C>T)
c.4115C>T
c.3691C>T (p.Gln1231Ter)
n.231-354G>A
c.4888C>T (p.Gln1630Ter)
c.4885C>T (p.Gln1629Ter)
c.4840C>T (p.Gln1614Ter)
c.3964C>T (p.Gln1322Ter)
c.3733C>T (p.Gln1245Ter)
 ClinVar dbSNP
10g.94283841A>CCA377652432PLCE1,PLCE1-AS1c.3923A>C (p.Gln1308Pro)
c.*1390A>C (n.*1390A>C)
n.1582A>C
c.*131A>C (n.*131A>C)
c.3875A>C (p.Gln1292Pro)
n.9055A>C
n.2520A>C
c.4847A>C (p.Gln1616Pro)
c.4799A>C (p.Gln1600Pro)
c.3821A>C (p.Gln1274Pro)
c.3402A>C
c.2963A>C (p.Gln988Pro)
c.*780A>C (n.*780A>C)
c.4116A>C
c.3692A>C (p.Gln1231Pro)
n.231-355T>G
c.4889A>C (p.Gln1630Pro)
c.4886A>C (p.Gln1629Pro)
c.4841A>C (p.Gln1614Pro)
c.3965A>C (p.Gln1322Pro)
c.3734A>C (p.Gln1245Pro)
10g.94283841A>GCA377652433PLCE1,PLCE1-AS1c.3923A>G (p.Gln1308Arg)
c.*1390A>G (n.*1390A>G)
n.1582A>G
c.*131A>G (n.*131A>G)
c.3875A>G (p.Gln1292Arg)
n.9055A>G
n.2520A>G
c.4847A>G (p.Gln1616Arg)
c.4799A>G (p.Gln1600Arg)
c.3821A>G (p.Gln1274Arg)
c.3402A>G
c.2963A>G (p.Gln988Arg)
c.*780A>G (n.*780A>G)
c.4116A>G
c.3692A>G (p.Gln1231Arg)
n.231-355T>C
c.4889A>G (p.Gln1630Arg)
c.4886A>G (p.Gln1629Arg)
c.4841A>G (p.Gln1614Arg)
c.3965A>G (p.Gln1322Arg)
c.3734A>G (p.Gln1245Arg)
 gnomAD v4
10g.94283841A>TCA377652434PLCE1,PLCE1-AS1c.3923A>T (p.Gln1308Leu)
c.*1390A>T (n.*1390A>T)
n.1582A>T
c.*131A>T (n.*131A>T)
c.3875A>T (p.Gln1292Leu)
n.9055A>T
n.2520A>T
c.4847A>T (p.Gln1616Leu)
c.4799A>T (p.Gln1600Leu)
c.3821A>T (p.Gln1274Leu)
c.3402A>T
c.2963A>T (p.Gln988Leu)
c.*780A>T (n.*780A>T)
c.4116A>T
c.3692A>T (p.Gln1231Leu)
n.231-355T>A
c.4889A>T (p.Gln1630Leu)
c.4886A>T (p.Gln1629Leu)
c.4841A>T (p.Gln1614Leu)
c.3965A>T (p.Gln1322Leu)
c.3734A>T (p.Gln1245Leu)
10g.94283842delCA2739291372PLCE1,PLCE1-AS1c.3924del (p.Gln1308HisfsTer12)
c.*1391del (n.*1391del)
n.1583del
c.*132del (n.*132del)
c.3876del (p.Gln1292HisfsTer12)
n.9056del
n.2521del
c.4848del (p.Gln1616HisfsTer12)
c.4800del (p.Gln1600HisfsTer12)
c.3822del (p.Gln1274HisfsTer12)
c.3403del
c.2964del (p.Gln988HisfsTer12)
c.*781del (n.*781del)
c.4117del
c.3693del (p.Gln1231HisfsTer12)
n.231-356del
c.4890del (p.Gln1630HisfsTer12)
c.4887del (p.Gln1629HisfsTer12)
c.4842del (p.Gln1614HisfsTer12)
c.3966del (p.Gln1322HisfsTer12)
c.3735del (p.Gln1245HisfsTer12)
10g.94283842G>ACA470818846PLCE1,PLCE1-AS1c.3924G>A (p.Gln1308=)
c.*1391G>A (n.*1391G>A)
n.1583G>A
c.*132G>A (n.*132G>A)
c.3876G>A (p.Gln1292=)
n.9056G>A
n.2521G>A
c.4848G>A (p.Gln1616=)
c.4800G>A (p.Gln1600=)
c.3822G>A (p.Gln1274=)
c.3403G>A
c.2964G>A (p.Gln988=)
c.*781G>A (n.*781G>A)
c.4117G>A
c.3693G>A (p.Gln1231=)
n.231-356C>T
c.4890G>A (p.Gln1630=)
c.4887G>A (p.Gln1629=)
c.4842G>A (p.Gln1614=)
c.3966G>A (p.Gln1322=)
c.3735G>A (p.Gln1245=)
10g.94283842G>CCA377652435PLCE1,PLCE1-AS1c.3924G>C (p.Gln1308His)
c.*1391G>C (n.*1391G>C)
n.1583G>C
c.*132G>C (n.*132G>C)
c.3876G>C (p.Gln1292His)
n.9056G>C
n.2521G>C
c.4848G>C (p.Gln1616His)
c.4800G>C (p.Gln1600His)
c.3822G>C (p.Gln1274His)
c.3403G>C
c.2964G>C (p.Gln988His)
c.*781G>C (n.*781G>C)
c.4117G>C
c.3693G>C (p.Gln1231His)
n.231-356C>G
c.4890G>C (p.Gln1630His)
c.4887G>C (p.Gln1629His)
c.4842G>C (p.Gln1614His)
c.3966G>C (p.Gln1322His)
c.3735G>C (p.Gln1245His)
10g.94283842G=CA1928990324PLCE1,PLCE1-AS1c.3924G= (p.Gln1308=)
c.*1391G= (n.*1391G=)
n.1583G=
c.*132G= (n.*132G=)
c.3876G= (p.Gln1292=)
n.9056G=
n.2521G=
c.4848G= (p.Gln1616=)
c.4800G= (p.Gln1600=)
c.3822G= (p.Gln1274=)
c.3403G=
c.2964G= (p.Gln988=)
c.*781G= (n.*781G=)
c.4117G=
c.3693G= (p.Gln1231=)
n.231-356C=
c.4890G= (p.Gln1630=)
c.4887G= (p.Gln1629=)
c.4842G= (p.Gln1614=)
c.3966G= (p.Gln1322=)
c.3735G= (p.Gln1245=)
10g.94283842G>TCA5613238PLCE1,PLCE1-AS1c.3924G>T (p.Gln1308His)
c.*1391G>T (n.*1391G>T)
n.1583G>T
c.*132G>T (n.*132G>T)
c.3876G>T (p.Gln1292His)
n.9056G>T
n.2521G>T
c.4848G>T (p.Gln1616His)
c.4800G>T (p.Gln1600His)
c.3822G>T (p.Gln1274His)
c.3403G>T
c.2964G>T (p.Gln988His)
c.*781G>T (n.*781G>T)
c.4117G>T
c.3693G>T (p.Gln1231His)
n.231-356C>A
c.4890G>T (p.Gln1630His)
c.4887G>T (p.Gln1629His)
c.4842G>T (p.Gln1614His)
c.3966G>T (p.Gln1322His)
c.3735G>T (p.Gln1245His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283843T>ACA377652436PLCE1,PLCE1-AS1c.3925T>A (p.Phe1309Ile)
c.*1392T>A (n.*1392T>A)
n.1584T>A
c.*133T>A (n.*133T>A)
c.3877T>A (p.Phe1293Ile)
n.9057T>A
n.2522T>A
c.4849T>A (p.Phe1617Ile)
c.4801T>A (p.Phe1601Ile)
c.3823T>A (p.Phe1275Ile)
c.3404T>A
c.2965T>A (p.Phe989Ile)
c.*782T>A (n.*782T>A)
c.4118T>A
c.3694T>A (p.Phe1232Ile)
n.231-357A>T
c.4891T>A (p.Phe1631Ile)
c.4888T>A (p.Phe1630Ile)
c.4843T>A (p.Phe1615Ile)
c.3967T>A (p.Phe1323Ile)
c.3736T>A (p.Phe1246Ile)
10g.94283843T>CCA377652437PLCE1,PLCE1-AS1c.3925T>C (p.Phe1309Leu)
c.*1392T>C (n.*1392T>C)
n.1584T>C
c.*133T>C (n.*133T>C)
c.3877T>C (p.Phe1293Leu)
n.9057T>C
n.2522T>C
c.4849T>C (p.Phe1617Leu)
c.4801T>C (p.Phe1601Leu)
c.3823T>C (p.Phe1275Leu)
c.3404T>C
c.2965T>C (p.Phe989Leu)
c.*782T>C (n.*782T>C)
c.4118T>C
c.3694T>C (p.Phe1232Leu)
n.231-357A>G
c.4891T>C (p.Phe1631Leu)
c.4888T>C (p.Phe1630Leu)
c.4843T>C (p.Phe1615Leu)
c.3967T>C (p.Phe1323Leu)
c.3736T>C (p.Phe1246Leu)
10g.94283843T>GCA377652438PLCE1,PLCE1-AS1c.3925T>G (p.Phe1309Val)
c.*1392T>G (n.*1392T>G)
n.1584T>G
c.*133T>G (n.*133T>G)
c.3877T>G (p.Phe1293Val)
n.9057T>G
n.2522T>G
c.4849T>G (p.Phe1617Val)
c.4801T>G (p.Phe1601Val)
c.3823T>G (p.Phe1275Val)
c.3404T>G
c.2965T>G (p.Phe989Val)
c.*782T>G (n.*782T>G)
c.4118T>G
c.3694T>G (p.Phe1232Val)
n.231-357A>C
c.4891T>G (p.Phe1631Val)
c.4888T>G (p.Phe1630Val)
c.4843T>G (p.Phe1615Val)
c.3967T>G (p.Phe1323Val)
c.3736T>G (p.Phe1246Val)
10g.94283844T>ACA377652439PLCE1,PLCE1-AS1c.3926T>A (p.Phe1309Tyr)
c.*1393T>A (n.*1393T>A)
n.1585T>A
c.*134T>A (n.*134T>A)
c.3878T>A (p.Phe1293Tyr)
n.9058T>A
n.2523T>A
c.4850T>A (p.Phe1617Tyr)
c.4802T>A (p.Phe1601Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3405T>A
c.2966T>A (p.Phe989Tyr)
c.*783T>A (n.*783T>A)
c.4119T>A
c.3695T>A (p.Phe1232Tyr)
n.231-358A>T
c.4892T>A (p.Phe1631Tyr)
c.4889T>A (p.Phe1630Tyr)
c.4844T>A (p.Phe1615Tyr)
c.3968T>A (p.Phe1323Tyr)
c.3737T>A (p.Phe1246Tyr)
10g.94283844T>CCA377652440PLCE1,PLCE1-AS1c.3926T>C (p.Phe1309Ser)
c.*1393T>C (n.*1393T>C)
n.1585T>C
c.*134T>C (n.*134T>C)
c.3878T>C (p.Phe1293Ser)
n.9058T>C
n.2523T>C
c.4850T>C (p.Phe1617Ser)
c.4802T>C (p.Phe1601Ser)
c.3824T>C (p.Phe1275Ser)
c.3405T>C
c.2966T>C (p.Phe989Ser)
c.*783T>C (n.*783T>C)
c.4119T>C
c.3695T>C (p.Phe1232Ser)
n.231-358A>G
c.4892T>C (p.Phe1631Ser)
c.4889T>C (p.Phe1630Ser)
c.4844T>C (p.Phe1615Ser)
c.3968T>C (p.Phe1323Ser)
c.3737T>C (p.Phe1246Ser)
10g.94283844T>GCA377652441PLCE1,PLCE1-AS1c.3926T>G (p.Phe1309Cys)
c.*1393T>G (n.*1393T>G)
n.1585T>G
c.*134T>G (n.*134T>G)
c.3878T>G (p.Phe1293Cys)
n.9058T>G
n.2523T>G
c.4850T>G (p.Phe1617Cys)
c.4802T>G (p.Phe1601Cys)
c.3824T>G (p.Phe1275Cys)
c.3405T>G
c.2966T>G (p.Phe989Cys)
c.*783T>G (n.*783T>G)
c.4119T>G
c.3695T>G (p.Phe1232Cys)
n.231-358A>C
c.4892T>G (p.Phe1631Cys)
c.4889T>G (p.Phe1630Cys)
c.4844T>G (p.Phe1615Cys)
c.3968T>G (p.Phe1323Cys)
c.3737T>G (p.Phe1246Cys)
10g.94283845T>ACA377652442PLCE1,PLCE1-AS1c.3927T>A (p.Phe1309Leu)
c.*1394T>A (n.*1394T>A)
n.1586T>A
c.*135T>A (n.*135T>A)
c.3879T>A (p.Phe1293Leu)
n.9059T>A
n.2524T>A
c.4851T>A (p.Phe1617Leu)
c.4803T>A (p.Phe1601Leu)
c.3825T>A (p.Phe1275Leu)
c.3406T>A
c.2967T>A (p.Phe989Leu)
c.*784T>A (n.*784T>A)
c.4120T>A
c.3696T>A (p.Phe1232Leu)
n.231-359A>T
c.4893T>A (p.Phe1631Leu)
c.4890T>A (p.Phe1630Leu)
c.4845T>A (p.Phe1615Leu)
c.3969T>A (p.Phe1323Leu)
c.3738T>A (p.Phe1246Leu)
10g.94283845T>CCA470818847PLCE1,PLCE1-AS1c.3927T>C (p.Phe1309=)
c.*1394T>C (n.*1394T>C)
n.1586T>C
c.*135T>C (n.*135T>C)
c.3879T>C (p.Phe1293=)
n.9059T>C
n.2524T>C
c.4851T>C (p.Phe1617=)
c.4803T>C (p.Phe1601=)
c.3825T>C (p.Phe1275=)
c.3406T>C
c.2967T>C (p.Phe989=)
c.*784T>C (n.*784T>C)
c.4120T>C
c.3696T>C (p.Phe1232=)
n.231-359A>G
c.4893T>C (p.Phe1631=)
c.4890T>C (p.Phe1630=)
c.4845T>C (p.Phe1615=)
c.3969T>C (p.Phe1323=)
c.3738T>C (p.Phe1246=)
10g.94283845T>GCA5613239PLCE1,PLCE1-AS1c.3927T>G (p.Phe1309Leu)
c.*1394T>G (n.*1394T>G)
n.1586T>G
c.*135T>G (n.*135T>G)
c.3879T>G (p.Phe1293Leu)
n.9059T>G
n.2524T>G
c.4851T>G (p.Phe1617Leu)
c.4803T>G (p.Phe1601Leu)
c.3825T>G (p.Phe1275Leu)
c.3406T>G
c.2967T>G (p.Phe989Leu)
c.*784T>G (n.*784T>G)
c.4120T>G
c.3696T>G (p.Phe1232Leu)
n.231-359A>C
c.4893T>G (p.Phe1631Leu)
c.4890T>G (p.Phe1630Leu)
c.4845T>G (p.Phe1615Leu)
c.3969T>G (p.Phe1323Leu)
c.3738T>G (p.Phe1246Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94283845T=CA1928990328PLCE1,PLCE1-AS1c.3927T= (p.Phe1309=)
c.*1394T= (n.*1394T=)
n.1586T=
c.*135T= (n.*135T=)
c.3879T= (p.Phe1293=)
n.9059T=
n.2524T=
c.4851T= (p.Phe1617=)
c.4803T= (p.Phe1601=)
c.3825T= (p.Phe1275=)
c.3406T=
c.2967T= (p.Phe989=)
c.*784T= (n.*784T=)
c.4120T=
c.3696T= (p.Phe1232=)
n.231-359A=
c.4893T= (p.Phe1631=)
c.4890T= (p.Phe1630=)
c.4845T= (p.Phe1615=)
c.3969T= (p.Phe1323=)
c.3738T= (p.Phe1246=)
10g.94283846G>ACA377652443PLCE1,PLCE1-AS1c.3928G>A (p.Glu1310Lys)
c.*1395G>A (n.*1395G>A)
n.1587G>A
c.*136G>A (n.*136G>A)
c.3880G>A (p.Glu1294Lys)
n.9060G>A
n.2525G>A
c.4852G>A (p.Glu1618Lys)
c.4804G>A (p.Glu1602Lys)
c.3826G>A (p.Glu1276Lys)
c.3407G>A
c.2968G>A (p.Glu990Lys)
c.*785G>A (n.*785G>A)
c.4121G>A
c.3697G>A (p.Glu1233Lys)
n.231-360C>T
c.4894G>A (p.Glu1632Lys)
c.4891G>A (p.Glu1631Lys)
c.4846G>A (p.Glu1616Lys)
c.3970G>A (p.Glu1324Lys)
c.3739G>A (p.Glu1247Lys)
 COSMIC COSMIC COSMIC
10g.94283846G>CCA377652444PLCE1,PLCE1-AS1c.3928G>C (p.Glu1310Gln)
c.*1395G>C (n.*1395G>C)
n.1587G>C
c.*136G>C (n.*136G>C)
c.3880G>C (p.Glu1294Gln)
n.9060G>C
n.2525G>C
c.4852G>C (p.Glu1618Gln)
c.4804G>C (p.Glu1602Gln)
c.3826G>C (p.Glu1276Gln)
c.3407G>C
c.2968G>C (p.Glu990Gln)
c.*785G>C (n.*785G>C)
c.4121G>C
c.3697G>C (p.Glu1233Gln)
n.231-360C>G
c.4894G>C (p.Glu1632Gln)
c.4891G>C (p.Glu1631Gln)
c.4846G>C (p.Glu1616Gln)
c.3970G>C (p.Glu1324Gln)
c.3739G>C (p.Glu1247Gln)
10g.94283846G>TCA377652445PLCE1,PLCE1-AS1c.3928G>T (p.Glu1310Ter)
c.*1395G>T (n.*1395G>T)
n.1587G>T
c.*136G>T (n.*136G>T)
c.3880G>T (p.Glu1294Ter)
n.9060G>T
n.2525G>T
c.4852G>T (p.Glu1618Ter)
c.4804G>T (p.Glu1602Ter)
c.3826G>T (p.Glu1276Ter)
c.3407G>T
c.2968G>T (p.Glu990Ter)
c.*785G>T (n.*785G>T)
c.4121G>T
c.3697G>T (p.Glu1233Ter)
n.231-360C>A
c.4894G>T (p.Glu1632Ter)
c.4891G>T (p.Glu1631Ter)
c.4846G>T (p.Glu1616Ter)
c.3970G>T (p.Glu1324Ter)
c.3739G>T (p.Glu1247Ter)
 gnomAD v4
10g.94283847A>CCA377652448PLCE1,PLCE1-AS1c.3929A>C (p.Glu1310Ala)
c.*1396A>C (n.*1396A>C)
n.1588A>C
c.*137A>C (n.*137A>C)
c.3881A>C (p.Glu1294Ala)
n.9061A>C
n.2526A>C
c.4853A>C (p.Glu1618Ala)
c.4805A>C (p.Glu1602Ala)
c.3827A>C (p.Glu1276Ala)
c.3408A>C
c.2969A>C (p.Glu990Ala)
c.*786A>C (n.*786A>C)
c.4122A>C
c.3698A>C (p.Glu1233Ala)
n.231-361T>G
c.4895A>C (p.Glu1632Ala)
c.4892A>C (p.Glu1631Ala)
c.4847A>C (p.Glu1616Ala)
c.3971A>C (p.Glu1324Ala)
c.3740A>C (p.Glu1247Ala)
10g.94283847A>GCA377652447PLCE1,PLCE1-AS1c.3929A>G (p.Glu1310Gly)
c.*1396A>G (n.*1396A>G)
n.1588A>G
c.*137A>G (n.*137A>G)
c.3881A>G (p.Glu1294Gly)
n.9061A>G
n.2526A>G
c.4853A>G (p.Glu1618Gly)
c.4805A>G (p.Glu1602Gly)
c.3827A>G (p.Glu1276Gly)
c.3408A>G
c.2969A>G (p.Glu990Gly)
c.*786A>G (n.*786A>G)
c.4122A>G
c.3698A>G (p.Glu1233Gly)
n.231-361T>C
c.4895A>G (p.Glu1632Gly)
c.4892A>G (p.Glu1631Gly)
c.4847A>G (p.Glu1616Gly)
c.3971A>G (p.Glu1324Gly)
c.3740A>G (p.Glu1247Gly)
10g.94283847A>TCA377652446PLCE1,PLCE1-AS1c.3929A>T (p.Glu1310Val)
c.*1396A>T (n.*1396A>T)
n.1588A>T
c.*137A>T (n.*137A>T)
c.3881A>T (p.Glu1294Val)
n.9061A>T
n.2526A>T
c.4853A>T (p.Glu1618Val)
c.4805A>T (p.Glu1602Val)
c.3827A>T (p.Glu1276Val)
c.3408A>T
c.2969A>T (p.Glu990Val)
c.*786A>T (n.*786A>T)
c.4122A>T
c.3698A>T (p.Glu1233Val)
n.231-361T>A
c.4895A>T (p.Glu1632Val)
c.4892A>T (p.Glu1631Val)
c.4847A>T (p.Glu1616Val)
c.3971A>T (p.Glu1324Val)
c.3740A>T (p.Glu1247Val)
10g.94283848A=CA1928990333PLCE1,PLCE1-AS1c.3930A= (p.Glu1310=)
c.*1397A= (n.*1397A=)
n.1589A=
c.*138A= (n.*138A=)
c.3882A= (p.Glu1294=)
n.9062A=
n.2527A=
c.4854A= (p.Glu1618=)
c.4806A= (p.Glu1602=)
c.3828A= (p.Glu1276=)
c.3409A=
c.2970A= (p.Glu990=)
c.*787A= (n.*787A=)
c.4123A=
c.3699A= (p.Glu1233=)
n.231-362T=
c.4896A= (p.Glu1632=)
c.4893A= (p.Glu1631=)
c.4848A= (p.Glu1616=)
c.3972A= (p.Glu1324=)
c.3741A= (p.Glu1247=)
10g.94283848A>CCA377652449PLCE1,PLCE1-AS1c.3930A>C (p.Glu1310Asp)
c.*1397A>C (n.*1397A>C)
n.1589A>C
c.*138A>C (n.*138A>C)
c.3882A>C (p.Glu1294Asp)
n.9062A>C
n.2527A>C
c.4854A>C (p.Glu1618Asp)
c.4806A>C (p.Glu1602Asp)
c.3828A>C (p.Glu1276Asp)
c.3409A>C
c.2970A>C (p.Glu990Asp)
c.*787A>C (n.*787A>C)
c.4123A>C
c.3699A>C (p.Glu1233Asp)
n.231-362T>G
c.4896A>C (p.Glu1632Asp)
c.4893A>C (p.Glu1631Asp)
c.4848A>C (p.Glu1616Asp)
c.3972A>C (p.Glu1324Asp)
c.3741A>C (p.Glu1247Asp)
10g.94283848A>GCA470818848PLCE1,PLCE1-AS1c.3930A>G (p.Glu1310=)
c.*1397A>G (n.*1397A>G)
n.1589A>G
c.*138A>G (n.*138A>G)
c.3882A>G (p.Glu1294=)
n.9062A>G
n.2527A>G
c.4854A>G (p.Glu1618=)
c.4806A>G (p.Glu1602=)
c.3828A>G (p.Glu1276=)
c.3409A>G
c.2970A>G (p.Glu990=)
c.*787A>G (n.*787A>G)
c.4123A>G
c.3699A>G (p.Glu1233=)
n.231-362T>C
c.4896A>G (p.Glu1632=)
c.4893A>G (p.Glu1631=)
c.4848A>G (p.Glu1616=)
c.3972A>G (p.Glu1324=)
c.3741A>G (p.Glu1247=)
10g.94283848A>TCA377652450PLCE1,PLCE1-AS1c.3930A>T (p.Glu1310Asp)
c.*1397A>T (n.*1397A>T)
n.1589A>T
c.*138A>T (n.*138A>T)
c.3882A>T (p.Glu1294Asp)
n.9062A>T
n.2527A>T
c.4854A>T (p.Glu1618Asp)
c.4806A>T (p.Glu1602Asp)
c.3828A>T (p.Glu1276Asp)
c.3409A>T
c.2970A>T (p.Glu990Asp)
c.*787A>T (n.*787A>T)
c.4123A>T
c.3699A>T (p.Glu1233Asp)
n.231-362T>A
c.4896A>T (p.Glu1632Asp)
c.4893A>T (p.Glu1631Asp)
c.4848A>T (p.Glu1616Asp)
c.3972A>T (p.Glu1324Asp)
c.3741A>T (p.Glu1247Asp)
 dbSNP gnomAD v4
10g.94283849T>ACA377652451PLCE1,PLCE1-AS1c.3931T>A (p.Tyr1311Asn)
c.*1398T>A (n.*1398T>A)
n.1590T>A
c.*139T>A (n.*139T>A)
c.3883T>A (p.Tyr1295Asn)
n.9063T>A
n.2528T>A
c.4855T>A (p.Tyr1619Asn)
c.4807T>A (p.Tyr1603Asn)
c.3829T>A (p.Tyr1277Asn)
c.3410T>A
c.2971T>A (p.Tyr991Asn)
c.*788T>A (n.*788T>A)
c.4124T>A
c.3700T>A (p.Tyr1234Asn)
n.231-363A>T
c.4897T>A (p.Tyr1633Asn)
c.4894T>A (p.Tyr1632Asn)
c.4849T>A (p.Tyr1617Asn)
c.3973T>A (p.Tyr1325Asn)
c.3742T>A (p.Tyr1248Asn)
10g.94283849T>CCA377652452PLCE1,PLCE1-AS1c.3931T>C (p.Tyr1311His)
c.*1398T>C (n.*1398T>C)
n.1590T>C
c.*139T>C (n.*139T>C)
c.3883T>C (p.Tyr1295His)
n.9063T>C
n.2528T>C
c.4855T>C (p.Tyr1619His)
c.4807T>C (p.Tyr1603His)
c.3829T>C (p.Tyr1277His)
c.3410T>C
c.2971T>C (p.Tyr991His)
c.*788T>C (n.*788T>C)
c.4124T>C
c.3700T>C (p.Tyr1234His)
n.231-363A>G
c.4897T>C (p.Tyr1633His)
c.4894T>C (p.Tyr1632His)
c.4849T>C (p.Tyr1617His)
c.3973T>C (p.Tyr1325His)
c.3742T>C (p.Tyr1248His)
10g.94283849T>GCA377652453PLCE1,PLCE1-AS1c.3931T>G (p.Tyr1311Asp)
c.*1398T>G (n.*1398T>G)
n.1590T>G
c.*139T>G (n.*139T>G)
c.3883T>G (p.Tyr1295Asp)
n.9063T>G
n.2528T>G
c.4855T>G (p.Tyr1619Asp)
c.4807T>G (p.Tyr1603Asp)
c.3829T>G (p.Tyr1277Asp)
c.3410T>G
c.2971T>G (p.Tyr991Asp)
c.*788T>G (n.*788T>G)
c.4124T>G
c.3700T>G (p.Tyr1234Asp)
n.231-363A>C
c.4897T>G (p.Tyr1633Asp)
c.4894T>G (p.Tyr1632Asp)
c.4849T>G (p.Tyr1617Asp)
c.3973T>G (p.Tyr1325Asp)
c.3742T>G (p.Tyr1248Asp)
10g.94283850A=CA1928990337PLCE1,PLCE1-AS1c.3932A= (p.Tyr1311=)
c.*1399A= (n.*1399A=)
n.1591A=
c.*140A= (n.*140A=)
c.3884A= (p.Tyr1295=)
n.9064A=
n.2529A=
c.4856A= (p.Tyr1619=)
c.4808A= (p.Tyr1603=)
c.3830A= (p.Tyr1277=)
c.3411A=
c.2972A= (p.Tyr991=)
c.*789A= (n.*789A=)
c.4125A=
c.3701A= (p.Tyr1234=)
n.231-364T=
c.4898A= (p.Tyr1633=)
c.4895A= (p.Tyr1632=)
c.4850A= (p.Tyr1617=)
c.3974A= (p.Tyr1325=)
c.3743A= (p.Tyr1248=)
10g.94283850A>CCA377652454PLCE1,PLCE1-AS1c.3932A>C (p.Tyr1311Ser)
c.*1399A>C (n.*1399A>C)
n.1591A>C
c.*140A>C (n.*140A>C)
c.3884A>C (p.Tyr1295Ser)
n.9064A>C
n.2529A>C
c.4856A>C (p.Tyr1619Ser)
c.4808A>C (p.Tyr1603Ser)
c.3830A>C (p.Tyr1277Ser)
c.3411A>C
c.2972A>C (p.Tyr991Ser)
c.*789A>C (n.*789A>C)
c.4125A>C
c.3701A>C (p.Tyr1234Ser)
n.231-364T>G
c.4898A>C (p.Tyr1633Ser)
c.4895A>C (p.Tyr1632Ser)
c.4850A>C (p.Tyr1617Ser)
c.3974A>C (p.Tyr1325Ser)
c.3743A>C (p.Tyr1248Ser)
10g.94283850A>GCA377652455PLCE1,PLCE1-AS1c.3932A>G (p.Tyr1311Cys)
c.*1399A>G (n.*1399A>G)
n.1591A>G
c.*140A>G (n.*140A>G)
c.3884A>G (p.Tyr1295Cys)
n.9064A>G
n.2529A>G
c.4856A>G (p.Tyr1619Cys)
c.4808A>G (p.Tyr1603Cys)
c.3830A>G (p.Tyr1277Cys)
c.3411A>G
c.2972A>G (p.Tyr991Cys)
c.*789A>G (n.*789A>G)
c.4125A>G
c.3701A>G (p.Tyr1234Cys)
n.231-364T>C
c.4898A>G (p.Tyr1633Cys)
c.4895A>G (p.Tyr1632Cys)
c.4850A>G (p.Tyr1617Cys)
c.3974A>G (p.Tyr1325Cys)
c.3743A>G (p.Tyr1248Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.94283850A>TCA377652456PLCE1,PLCE1-AS1c.3932A>T (p.Tyr1311Phe)
c.*1399A>T (n.*1399A>T)
n.1591A>T
c.*140A>T (n.*140A>T)
c.3884A>T (p.Tyr1295Phe)
n.9064A>T
n.2529A>T
c.4856A>T (p.Tyr1619Phe)
c.4808A>T (p.Tyr1603Phe)
c.3830A>T (p.Tyr1277Phe)
c.3411A>T
c.2972A>T (p.Tyr991Phe)
c.*789A>T (n.*789A>T)
c.4125A>T
c.3701A>T (p.Tyr1234Phe)
n.231-364T>A
c.4898A>T (p.Tyr1633Phe)
c.4895A>T (p.Tyr1632Phe)
c.4850A>T (p.Tyr1617Phe)
c.3974A>T (p.Tyr1325Phe)
c.3743A>T (p.Tyr1248Phe)
10g.94283851T>ACA377652457PLCE1,PLCE1-AS1c.3933T>A (p.Tyr1311Ter)
c.*1400T>A (n.*1400T>A)
n.1592T>A
c.*141T>A (n.*141T>A)
c.3885T>A (p.Tyr1295Ter)
n.9065T>A
n.2530T>A
c.4857T>A (p.Tyr1619Ter)
c.4809T>A (p.Tyr1603Ter)
c.3831T>A (p.Tyr1277Ter)
c.3412T>A
c.2973T>A (p.Tyr991Ter)
c.*790T>A (n.*790T>A)
c.4126T>A
c.3702T>A (p.Tyr1234Ter)
n.231-365A>T
c.4899T>A (p.Tyr1633Ter)
c.4896T>A (p.Tyr1632Ter)
c.4851T>A (p.Tyr1617Ter)
c.3975T>A (p.Tyr1325Ter)
c.3744T>A (p.Tyr1248Ter)
10g.94283851T>CCA470818849PLCE1,PLCE1-AS1c.3933T>C (p.Tyr1311=)
c.*1400T>C (n.*1400T>C)
n.1592T>C
c.*141T>C (n.*141T>C)
c.3885T>C (p.Tyr1295=)
n.9065T>C
n.2530T>C
c.4857T>C (p.Tyr1619=)
c.4809T>C (p.Tyr1603=)
c.3831T>C (p.Tyr1277=)
c.3412T>C
c.2973T>C (p.Tyr991=)
c.*790T>C (n.*790T>C)
c.4126T>C
c.3702T>C (p.Tyr1234=)
n.231-365A>G
c.4899T>C (p.Tyr1633=)
c.4896T>C (p.Tyr1632=)
c.4851T>C (p.Tyr1617=)
c.3975T>C (p.Tyr1325=)
c.3744T>C (p.Tyr1248=)
10g.94283851T>GCA377652458PLCE1,PLCE1-AS1c.3933T>G (p.Tyr1311Ter)
c.*1400T>G (n.*1400T>G)
n.1592T>G
c.*141T>G (n.*141T>G)
c.3885T>G (p.Tyr1295Ter)
n.9065T>G
n.2530T>G
c.4857T>G (p.Tyr1619Ter)
c.4809T>G (p.Tyr1603Ter)
c.3831T>G (p.Tyr1277Ter)
c.3412T>G
c.2973T>G (p.Tyr991Ter)
c.*790T>G (n.*790T>G)
c.4126T>G
c.3702T>G (p.Tyr1234Ter)
n.231-365A>C
c.4899T>G (p.Tyr1633Ter)
c.4896T>G (p.Tyr1632Ter)
c.4851T>G (p.Tyr1617Ter)
c.3975T>G (p.Tyr1325Ter)
c.3744T>G (p.Tyr1248Ter)
10g.94283852A>CCA377652459PLCE1,PLCE1-AS1c.3934A>C (p.Asn1312His)
c.*1401A>C (n.*1401A>C)
n.1593A>C
c.*142A>C (n.*142A>C)
c.3886A>C (p.Asn1296His)
n.9066A>C
n.2531A>C
c.4858A>C (p.Asn1620His)
c.4810A>C (p.Asn1604His)
c.3832A>C (p.Asn1278His)
c.3413A>C
c.2974A>C (p.Asn992His)
c.*791A>C (n.*791A>C)
c.4127A>C
c.3703A>C (p.Asn1235His)
n.231-366T>G
c.4900A>C (p.Asn1634His)
c.4897A>C (p.Asn1633His)
c.4852A>C (p.Asn1618His)
c.3976A>C (p.Asn1326His)
c.3745A>C (p.Asn1249His)
 gnomAD v4
10g.94283852A>GCA377652460PLCE1,PLCE1-AS1c.3934A>G (p.Asn1312Asp)
c.*1401A>G (n.*1401A>G)
n.1593A>G
c.*142A>G (n.*142A>G)
c.3886A>G (p.Asn1296Asp)
n.9066A>G
n.2531A>G
c.4858A>G (p.Asn1620Asp)
c.4810A>G (p.Asn1604Asp)
c.3832A>G (p.Asn1278Asp)
c.3413A>G
c.2974A>G (p.Asn992Asp)
c.*791A>G (n.*791A>G)
c.4127A>G
c.3703A>G (p.Asn1235Asp)
n.231-366T>C
c.4900A>G (p.Asn1634Asp)
c.4897A>G (p.Asn1633Asp)
c.4852A>G (p.Asn1618Asp)
c.3976A>G (p.Asn1326Asp)
c.3745A>G (p.Asn1249Asp)
10g.94283852A>TCA377652461PLCE1,PLCE1-AS1c.3934A>T (p.Asn1312Tyr)
c.*1401A>T (n.*1401A>T)
n.1593A>T
c.*142A>T (n.*142A>T)
c.3886A>T (p.Asn1296Tyr)
n.9066A>T
n.2531A>T
c.4858A>T (p.Asn1620Tyr)
c.4810A>T (p.Asn1604Tyr)
c.3832A>T (p.Asn1278Tyr)
c.3413A>T
c.2974A>T (p.Asn992Tyr)
c.*791A>T (n.*791A>T)
c.4127A>T
c.3703A>T (p.Asn1235Tyr)
n.231-366T>A
c.4900A>T (p.Asn1634Tyr)
c.4897A>T (p.Asn1633Tyr)
c.4852A>T (p.Asn1618Tyr)
c.3976A>T (p.Asn1326Tyr)
c.3745A>T (p.Asn1249Tyr)
10g.94283853A>CCA377652462PLCE1,PLCE1-AS1c.3935A>C (p.Asn1312Thr)
c.*1402A>C (n.*1402A>C)
n.1594A>C
c.*143A>C (n.*143A>C)
c.3887A>C (p.Asn1296Thr)
n.9067A>C
n.2532A>C
c.4859A>C (p.Asn1620Thr)
c.4811A>C (p.Asn1604Thr)
c.3833A>C (p.Asn1278Thr)
c.3414A>C
c.2975A>C (p.Asn992Thr)
c.*792A>C (n.*792A>C)
c.4128A>C
c.3704A>C (p.Asn1235Thr)
n.231-367T>G
c.4901A>C (p.Asn1634Thr)
c.4898A>C (p.Asn1633Thr)
c.4853A>C (p.Asn1618Thr)
c.3977A>C (p.Asn1326Thr)
c.3746A>C (p.Asn1249Thr)
10g.94283853A>GCA377652464PLCE1,PLCE1-AS1c.3935A>G (p.Asn1312Ser)
c.*1402A>G (n.*1402A>G)
n.1594A>G
c.*143A>G (n.*143A>G)
c.3887A>G (p.Asn1296Ser)
n.9067A>G
n.2532A>G
c.4859A>G (p.Asn1620Ser)
c.4811A>G (p.Asn1604Ser)
c.3833A>G (p.Asn1278Ser)
c.3414A>G
c.2975A>G (p.Asn992Ser)
c.*792A>G (n.*792A>G)
c.4128A>G
c.3704A>G (p.Asn1235Ser)
n.231-367T>C
c.4901A>G (p.Asn1634Ser)
c.4898A>G (p.Asn1633Ser)
c.4853A>G (p.Asn1618Ser)
c.3977A>G (p.Asn1326Ser)
c.3746A>G (p.Asn1249Ser)
10g.94283853A>TCA377652463PLCE1,PLCE1-AS1c.3935A>T (p.Asn1312Ile)
c.*1402A>T (n.*1402A>T)
n.1594A>T
c.*143A>T (n.*143A>T)
c.3887A>T (p.Asn1296Ile)
n.9067A>T
n.2532A>T
c.4859A>T (p.Asn1620Ile)
c.4811A>T (p.Asn1604Ile)
c.3833A>T (p.Asn1278Ile)
c.3414A>T
c.2975A>T (p.Asn992Ile)
c.*792A>T (n.*792A>T)
c.4128A>T
c.3704A>T (p.Asn1235Ile)
n.231-367T>A
c.4901A>T (p.Asn1634Ile)
c.4898A>T (p.Asn1633Ile)
c.4853A>T (p.Asn1618Ile)
c.3977A>T (p.Asn1326Ile)
c.3746A>T (p.Asn1249Ile)
10g.94283854T>ACA377652465PLCE1,PLCE1-AS1c.3936T>A (p.Asn1312Lys)
c.*1403T>A (n.*1403T>A)
n.1595T>A
c.*144T>A (n.*144T>A)
c.3888T>A (p.Asn1296Lys)
n.9068T>A
n.2533T>A
c.4860T>A (p.Asn1620Lys)
c.4812T>A (p.Asn1604Lys)
c.3834T>A (p.Asn1278Lys)
c.3415T>A
c.2976T>A (p.Asn992Lys)
c.*793T>A (n.*793T>A)
c.4129T>A
c.3705T>A (p.Asn1235Lys)
n.231-368A>T
c.4902T>A (p.Asn1634Lys)
c.4899T>A (p.Asn1633Lys)
c.4854T>A (p.Asn1618Lys)
c.3978T>A (p.Asn1326Lys)
c.3747T>A (p.Asn1249Lys)
10g.94283854T>CCA470818850PLCE1,PLCE1-AS1c.3936T>C (p.Asn1312=)
c.*1403T>C (n.*1403T>C)
n.1595T>C
c.*144T>C (n.*144T>C)
c.3888T>C (p.Asn1296=)
n.9068T>C
n.2533T>C
c.4860T>C (p.Asn1620=)
c.4812T>C (p.Asn1604=)
c.3834T>C (p.Asn1278=)
c.3415T>C
c.2976T>C (p.Asn992=)
c.*793T>C (n.*793T>C)
c.4129T>C
c.3705T>C (p.Asn1235=)
n.231-368A>G
c.4902T>C (p.Asn1634=)
c.4899T>C (p.Asn1633=)
c.4854T>C (p.Asn1618=)
c.3978T>C (p.Asn1326=)
c.3747T>C (p.Asn1249=)
10g.94283854T>GCA377652466PLCE1,PLCE1-AS1c.3936T>G (p.Asn1312Lys)
c.*1403T>G (n.*1403T>G)
n.1595T>G
c.*144T>G (n.*144T>G)
c.3888T>G (p.Asn1296Lys)
n.9068T>G
n.2533T>G
c.4860T>G (p.Asn1620Lys)
c.4812T>G (p.Asn1604Lys)
c.3834T>G (p.Asn1278Lys)
c.3415T>G
c.2976T>G (p.Asn992Lys)
c.*793T>G (n.*793T>G)
c.4129T>G
c.3705T>G (p.Asn1235Lys)
n.231-368A>C
c.4902T>G (p.Asn1634Lys)
c.4899T>G (p.Asn1633Lys)
c.4854T>G (p.Asn1618Lys)
c.3978T>G (p.Asn1326Lys)
c.3747T>G (p.Asn1249Lys)
10g.94283854_94283857delinsTGAACA1928990342PLCE1,PLCE1-AS1c.3936_3939delinsTGAA (p.Asn1312=)
c.*1403_*1406delinsTGAA (n.*1403_*1406delinsTGAA)
n.1595_1598delinsTGAA
c.*144_*147delinsTGAA (n.*144_*147delinsTGAA)
c.3888_3891delinsTGAA (p.Asn1296=)
n.9068_9071delinsTGAA
n.2533_2536delinsTGAA
c.4860_4863delinsTGAA (p.Asn1620=)
c.4812_4815delinsTGAA (p.Asn1604=)
c.3834_3837delinsTGAA (p.Asn1278=)
c.3415_3418delinsTGAA
c.2976_2979delinsTGAA (p.Asn992=)
c.*793_*796delinsTGAA (n.*793_*796delinsTGAA)
c.4129_4132delinsTGAA
c.3705_3708delinsTGAA (p.Asn1235=)
n.231-371_231-368delinsTTCA
c.4902_4905delinsTGAA (p.Asn1634=)
c.4899_4902delinsTGAA (p.Asn1633=)
c.4854_4857delinsTGAA (p.Asn1618=)
c.3978_3981delinsTGAA (p.Asn1326=)
c.3747_3750delinsTGAA (p.Asn1249=)
10g.94283855G>ACA377652467PLCE1,PLCE1-AS1c.3937G>A (p.Glu1313Lys)
c.*1404G>A (n.*1404G>A)
n.1596G>A
c.*145G>A (n.*145G>A)
c.3889G>A (p.Glu1297Lys)
n.9069G>A
n.2534G>A
c.4861G>A (p.Glu1621Lys)
c.4813G>A (p.Glu1605Lys)
c.3835G>A (p.Glu1279Lys)
c.3416G>A
c.2977G>A (p.Glu993Lys)
c.*794G>A (n.*794G>A)
c.4130G>A
c.3706G>A (p.Glu1236Lys)
n.231-369C>T
c.4903G>A (p.Glu1635Lys)
c.4900G>A (p.Glu1634Lys)
c.4855G>A (p.Glu1619Lys)
c.3979G>A (p.Glu1327Lys)
c.3748G>A (p.Glu1250Lys)
10g.94283855G>CCA377652468PLCE1,PLCE1-AS1c.3937G>C (p.Glu1313Gln)
c.*1404G>C (n.*1404G>C)
n.1596G>C
c.*145G>C (n.*145G>C)
c.3889G>C (p.Glu1297Gln)
n.9069G>C
n.2534G>C
c.4861G>C (p.Glu1621Gln)
c.4813G>C (p.Glu1605Gln)
c.3835G>C (p.Glu1279Gln)
c.3416G>C
c.2977G>C (p.Glu993Gln)
c.*794G>C (n.*794G>C)
c.4130G>C
c.3706G>C (p.Glu1236Gln)
n.231-369C>G
c.4903G>C (p.Glu1635Gln)
c.4900G>C (p.Glu1634Gln)
c.4855G>C (p.Glu1619Gln)
c.3979G>C (p.Glu1327Gln)
c.3748G>C (p.Glu1250Gln)
10g.94283855G>TCA377652469PLCE1,PLCE1-AS1c.3937G>T (p.Glu1313Ter)
c.*1404G>T (n.*1404G>T)
n.1596G>T
c.*145G>T (n.*145G>T)
c.3889G>T (p.Glu1297Ter)
n.9069G>T
n.2534G>T
c.4861G>T (p.Glu1621Ter)
c.4813G>T (p.Glu1605Ter)
c.3835G>T (p.Glu1279Ter)
c.3416G>T
c.2977G>T (p.Glu993Ter)
c.*794G>T (n.*794G>T)
c.4130G>T
c.3706G>T (p.Glu1236Ter)
n.231-369C>A
c.4903G>T (p.Glu1635Ter)
c.4900G>T (p.Glu1634Ter)
c.4855G>T (p.Glu1619Ter)
c.3979G>T (p.Glu1327Ter)
c.3748G>T (p.Glu1250Ter)
10g.94283858_94283860delCA931349680PLCE1,PLCE1-AS1c.3940_3942del (p.Glu1314del)
c.*1407_*1409del (n.*1407_*1409del)
n.1599_1601del
c.*148_*150del (n.*148_*150del)
c.3892_3894del (p.Glu1298del)
n.9072_9074del
n.2537_2539del
c.4864_4866del (p.Glu1622del)
c.4816_4818del (p.Glu1606del)
c.3838_3840del (p.Glu1280del)
c.3419_3421del
c.2980_2982del (p.Glu994del)
c.*797_*799del (n.*797_*799del)
c.4133_4135del
c.3709_3711del (p.Glu1237del)
n.231-371_231-369del
c.4906_4908del (p.Glu1636del)
c.4903_4905del (p.Glu1635del)
c.4858_4860del (p.Glu1620del)
c.3982_3984del (p.Glu1328del)
c.3751_3753del (p.Glu1251del)
 dbSNP gnomAD v3 gnomAD v4
10g.94283856A>CCA377652470PLCE1,PLCE1-AS1c.3938A>C (p.Glu1313Ala)
c.*1405A>C (n.*1405A>C)
n.1597A>C
c.*146A>C (n.*146A>C)
c.3890A>C (p.Glu1297Ala)
n.9070A>C
n.2535A>C
c.4862A>C (p.Glu1621Ala)
c.4814A>C (p.Glu1605Ala)
c.3836A>C (p.Glu1279Ala)
c.3417A>C
c.2978A>C (p.Glu993Ala)
c.*795A>C (n.*795A>C)
c.4131A>C
c.3707A>C (p.Glu1236Ala)
n.231-370T>G
c.4904A>C (p.Glu1635Ala)
c.4901A>C (p.Glu1634Ala)
c.4856A>C (p.Glu1619Ala)
c.3980A>C (p.Glu1327Ala)
c.3749A>C (p.Glu1250Ala)
10g.94283856A>GCA377652471PLCE1,PLCE1-AS1c.3938A>G (p.Glu1313Gly)
c.*1405A>G (n.*1405A>G)
n.1597A>G
c.*146A>G (n.*146A>G)
c.3890A>G (p.Glu1297Gly)
n.9070A>G
n.2535A>G
c.4862A>G (p.Glu1621Gly)
c.4814A>G (p.Glu1605Gly)
c.3836A>G (p.Glu1279Gly)
c.3417A>G
c.2978A>G (p.Glu993Gly)
c.*795A>G (n.*795A>G)
c.4131A>G
c.3707A>G (p.Glu1236Gly)
n.231-370T>C
c.4904A>G (p.Glu1635Gly)
c.4901A>G (p.Glu1634Gly)
c.4856A>G (p.Glu1619Gly)
c.3980A>G (p.Glu1327Gly)
c.3749A>G (p.Glu1250Gly)
10g.94283856A>TCA377652472PLCE1,PLCE1-AS1c.3938A>T (p.Glu1313Val)
c.*1405A>T (n.*1405A>T)
n.1597A>T
c.*146A>T (n.*146A>T)
c.3890A>T (p.Glu1297Val)
n.9070A>T
n.2535A>T
c.4862A>T (p.Glu1621Val)
c.4814A>T (p.Glu1605Val)
c.3836A>T (p.Glu1279Val)
c.3417A>T
c.2978A>T (p.Glu993Val)
c.*795A>T (n.*795A>T)
c.4131A>T
c.3707A>T (p.Glu1236Val)
n.231-370T>A
c.4904A>T (p.Glu1635Val)
c.4901A>T (p.Glu1634Val)
c.4856A>T (p.Glu1619Val)
c.3980A>T (p.Glu1327Val)
c.3749A>T (p.Glu1250Val)
 gnomAD v4
10g.94283857A>CCA377652473PLCE1,PLCE1-AS1c.3939A>C (p.Glu1313Asp)
c.*1406A>C (n.*1406A>C)
n.1598A>C
c.*147A>C (n.*147A>C)
c.3891A>C (p.Glu1297Asp)
n.9071A>C
n.2536A>C
c.4863A>C (p.Glu1621Asp)
c.4815A>C (p.Glu1605Asp)
c.3837A>C (p.Glu1279Asp)
c.3418A>C
c.2979A>C (p.Glu993Asp)
c.*796A>C (n.*796A>C)
c.4132A>C
c.3708A>C (p.Glu1236Asp)
n.231-371T>G
c.4905A>C (p.Glu1635Asp)
c.4902A>C (p.Glu1634Asp)
c.4857A>C (p.Glu1619Asp)
c.3981A>C (p.Glu1327Asp)
c.3750A>C (p.Glu1250Asp)
10g.94283857A>GCA470818851PLCE1,PLCE1-AS1c.3939A>G (p.Glu1313=)
c.*1406A>G (n.*1406A>G)
n.1598A>G
c.*147A>G (n.*147A>G)
c.3891A>G (p.Glu1297=)
n.9071A>G
n.2536A>G
c.4863A>G (p.Glu1621=)
c.4815A>G (p.Glu1605=)
c.3837A>G (p.Glu1279=)
c.3418A>G
c.2979A>G (p.Glu993=)
c.*796A>G (n.*796A>G)
c.4132A>G
c.3708A>G (p.Glu1236=)
n.231-371T>C
c.4905A>G (p.Glu1635=)
c.4902A>G (p.Glu1634=)
c.4857A>G (p.Glu1619=)
c.3981A>G (p.Glu1327=)
c.3750A>G (p.Glu1250=)
10g.94283857A>TCA377652474PLCE1,PLCE1-AS1c.3939A>T (p.Glu1313Asp)
c.*1406A>T (n.*1406A>T)
n.1598A>T
c.*147A>T (n.*147A>T)
c.3891A>T (p.Glu1297Asp)
n.9071A>T
n.2536A>T
c.4863A>T (p.Glu1621Asp)
c.4815A>T (p.Glu1605Asp)
c.3837A>T (p.Glu1279Asp)
c.3418A>T
c.2979A>T (p.Glu993Asp)
c.*796A>T (n.*796A>T)
c.4132A>T
c.3708A>T (p.Glu1236Asp)
n.231-371T>A
c.4905A>T (p.Glu1635Asp)
c.4902A>T (p.Glu1634Asp)
c.4857A>T (p.Glu1619Asp)
c.3981A>T (p.Glu1327Asp)
c.3750A>T (p.Glu1250Asp)
10g.94283858G>ACA377652476PLCE1,PLCE1-AS1c.3940G>A (p.Glu1314Lys)
c.*1407G>A (n.*1407G>A)
n.1599G>A
c.*148G>A (n.*148G>A)
c.3892G>A (p.Glu1298Lys)
n.9072G>A
n.2537G>A
c.4864G>A (p.Glu1622Lys)
c.4816G>A (p.Glu1606Lys)
c.3838G>A (p.Glu1280Lys)
c.3419G>A
c.2980G>A (p.Glu994Lys)
c.*797G>A (n.*797G>A)
c.4133G>A
c.3709G>A (p.Glu1237Lys)
n.231-372C>T
c.4906G>A (p.Glu1636Lys)
c.4903G>A (p.Glu1635Lys)
c.4858G>A (p.Glu1620Lys)
c.3982G>A (p.Glu1328Lys)
c.3751G>A (p.Glu1251Lys)
10g.94283858G>CCA377652477PLCE1,PLCE1-AS1c.3940G>C (p.Glu1314Gln)
c.*1407G>C (n.*1407G>C)
n.1599G>C
c.*148G>C (n.*148G>C)
c.3892G>C (p.Glu1298Gln)
n.9072G>C
n.2537G>C
c.4864G>C (p.Glu1622Gln)
c.4816G>C (p.Glu1606Gln)
c.3838G>C (p.Glu1280Gln)
c.3419G>C
c.2980G>C (p.Glu994Gln)
c.*797G>C (n.*797G>C)
c.4133G>C
c.3709G>C (p.Glu1237Gln)
n.231-372C>G
c.4906G>C (p.Glu1636Gln)
c.4903G>C (p.Glu1635Gln)
c.4858G>C (p.Glu1620Gln)
c.3982G>C (p.Glu1328Gln)
c.3751G>C (p.Glu1251Gln)
10g.94283858G>TCA377652475PLCE1,PLCE1-AS1c.3940G>T (p.Glu1314Ter)
c.*1407G>T (n.*1407G>T)
n.1599G>T
c.*148G>T (n.*148G>T)
c.3892G>T (p.Glu1298Ter)
n.9072G>T
n.2537G>T
c.4864G>T (p.Glu1622Ter)
c.4816G>T (p.Glu1606Ter)
c.3838G>T (p.Glu1280Ter)
c.3419G>T
c.2980G>T (p.Glu994Ter)
c.*797G>T (n.*797G>T)
c.4133G>T
c.3709G>T (p.Glu1237Ter)
n.231-372C>A
c.4906G>T (p.Glu1636Ter)
c.4903G>T (p.Glu1635Ter)
c.4858G>T (p.Glu1620Ter)
c.3982G>T (p.Glu1328Ter)
c.3751G>T (p.Glu1251Ter)
10g.94283859A>CCA377652480PLCE1,PLCE1-AS1c.3941A>C (p.Glu1314Ala)
c.*1408A>C (n.*1408A>C)
n.1600A>C
c.*149A>C (n.*149A>C)
c.3893A>C (p.Glu1298Ala)
n.9073A>C
n.2538A>C
c.4865A>C (p.Glu1622Ala)
c.4817A>C (p.Glu1606Ala)
c.3839A>C (p.Glu1280Ala)
c.3420A>C
c.2981A>C (p.Glu994Ala)
c.*798A>C (n.*798A>C)
c.4134A>C
c.3710A>C (p.Glu1237Ala)
n.231-373T>G
c.4907A>C (p.Glu1636Ala)
c.4904A>C (p.Glu1635Ala)
c.4859A>C (p.Glu1620Ala)
c.3983A>C (p.Glu1328Ala)
c.3752A>C (p.Glu1251Ala)
10g.94283859A>GCA377652478PLCE1,PLCE1-AS1c.3941A>G (p.Glu1314Gly)
c.*1408A>G (n.*1408A>G)
n.1600A>G
c.*149A>G (n.*149A>G)
c.3893A>G (p.Glu1298Gly)
n.9073A>G
n.2538A>G
c.4865A>G (p.Glu1622Gly)
c.4817A>G (p.Glu1606Gly)
c.3839A>G (p.Glu1280Gly)
c.3420A>G
c.2981A>G (p.Glu994Gly)
c.*798A>G (n.*798A>G)
c.4134A>G
c.3710A>G (p.Glu1237Gly)
n.231-373T>C
c.4907A>G (p.Glu1636Gly)
c.4904A>G (p.Glu1635Gly)
c.4859A>G (p.Glu1620Gly)
c.3983A>G (p.Glu1328Gly)
c.3752A>G (p.Glu1251Gly)
10g.94283859A>TCA377652479PLCE1,PLCE1-AS1c.3941A>T (p.Glu1314Val)
c.*1408A>T (n.*1408A>T)
n.1600A>T
c.*149A>T (n.*149A>T)
c.3893A>T (p.Glu1298Val)
n.9073A>T
n.2538A>T
c.4865A>T (p.Glu1622Val)
c.4817A>T (p.Glu1606Val)
c.3839A>T (p.Glu1280Val)
c.3420A>T
c.2981A>T (p.Glu994Val)
c.*798A>T (n.*798A>T)
c.4134A>T
c.3710A>T (p.Glu1237Val)
n.231-373T>A
c.4907A>T (p.Glu1636Val)
c.4904A>T (p.Glu1635Val)
c.4859A>T (p.Glu1620Val)
c.3983A>T (p.Glu1328Val)
c.3752A>T (p.Glu1251Val)
10g.94283860A>CCA377652481PLCE1,PLCE1-AS1c.3942A>C (p.Glu1314Asp)
c.*1409A>C (n.*1409A>C)
n.1601A>C
c.*150A>C (n.*150A>C)
c.3894A>C (p.Glu1298Asp)
n.9074A>C
n.2539A>C
c.4866A>C (p.Glu1622Asp)
c.4818A>C (p.Glu1606Asp)
c.3840A>C (p.Glu1280Asp)
c.3421A>C
c.2982A>C (p.Glu994Asp)
c.*799A>C (n.*799A>C)
c.4135A>C
c.3711A>C (p.Glu1237Asp)
n.231-374T>G
c.4908A>C (p.Glu1636Asp)
c.4905A>C (p.Glu1635Asp)
c.4860A>C (p.Glu1620Asp)
c.3984A>C (p.Glu1328Asp)
c.3753A>C (p.Glu1251Asp)
10g.94283860A>GCA470818852PLCE1,PLCE1-AS1c.3942A>G (p.Glu1314=)
c.*1409A>G (n.*1409A>G)
n.1601A>G
c.*150A>G (n.*150A>G)
c.3894A>G (p.Glu1298=)
n.9074A>G
n.2539A>G
c.4866A>G (p.Glu1622=)
c.4818A>G (p.Glu1606=)
c.3840A>G (p.Glu1280=)
c.3421A>G
c.2982A>G (p.Glu994=)
c.*799A>G (n.*799A>G)
c.4135A>G
c.3711A>G (p.Glu1237=)
n.231-374T>C
c.4908A>G (p.Glu1636=)
c.4905A>G (p.Glu1635=)
c.4860A>G (p.Glu1620=)
c.3984A>G (p.Glu1328=)
c.3753A>G (p.Glu1251=)
10g.94283860A>TCA377652482PLCE1,PLCE1-AS1c.3942A>T (p.Glu1314Asp)
c.*1409A>T (n.*1409A>T)
n.1601A>T
c.*150A>T (n.*150A>T)
c.3894A>T (p.Glu1298Asp)
n.9074A>T
n.2539A>T
c.4866A>T (p.Glu1622Asp)
c.4818A>T (p.Glu1606Asp)
c.3840A>T (p.Glu1280Asp)
c.3421A>T
c.2982A>T (p.Glu994Asp)
c.*799A>T (n.*799A>T)
c.4135A>T
c.3711A>T (p.Glu1237Asp)
n.231-374T>A
c.4908A>T (p.Glu1636Asp)
c.4905A>T (p.Glu1635Asp)
c.4860A>T (p.Glu1620Asp)
c.3984A>T (p.Glu1328Asp)
c.3753A>T (p.Glu1251Asp)
10g.94283861A=CA1928990347PLCE1,PLCE1-AS1c.3943A= (p.Ile1315=)
c.*1410A= (n.*1410A=)
n.1602A=
c.*151A= (n.*151A=)
c.3895A= (p.Ile1299=)
n.9075A=
n.2540A=
c.4867A= (p.Ile1623=)
c.4819A= (p.Ile1607=)
c.3841A= (p.Ile1281=)
c.3422A=
c.2983A= (p.Ile995=)
c.*800A= (n.*800A=)
c.4136A=
c.3712A= (p.Ile1238=)
n.231-375T=
c.4909A= (p.Ile1637=)
c.4906A= (p.Ile1636=)
c.4861A= (p.Ile1621=)
c.3985A= (p.Ile1329=)
c.3754A= (p.Ile1252=)
10g.94283861A>CCA377652483PLCE1,PLCE1-AS1c.3943A>C (p.Ile1315Leu)
c.*1410A>C (n.*1410A>C)
n.1602A>C
c.*151A>C (n.*151A>C)
c.3895A>C (p.Ile1299Leu)
n.9075A>C
n.2540A>C
c.4867A>C (p.Ile1623Leu)
c.4819A>C (p.Ile1607Leu)
c.3841A>C (p.Ile1281Leu)
c.3422A>C
c.2983A>C (p.Ile995Leu)
c.*800A>C (n.*800A>C)
c.4136A>C
c.3712A>C (p.Ile1238Leu)
n.231-375T>G
c.4909A>C (p.Ile1637Leu)
c.4906A>C (p.Ile1636Leu)
c.4861A>C (p.Ile1621Leu)
c.3985A>C (p.Ile1329Leu)
c.3754A>C (p.Ile1252Leu)
10g.94283861A>GCA377652484PLCE1,PLCE1-AS1c.3943A>G (p.Ile1315Val)
c.*1410A>G (n.*1410A>G)
n.1602A>G
c.*151A>G (n.*151A>G)
c.3895A>G (p.Ile1299Val)
n.9075A>G
n.2540A>G
c.4867A>G (p.Ile1623Val)
c.4819A>G (p.Ile1607Val)
c.3841A>G (p.Ile1281Val)
c.3422A>G
c.2983A>G (p.Ile995Val)
c.*800A>G (n.*800A>G)
c.4136A>G
c.3712A>G (p.Ile1238Val)
n.231-375T>C
c.4909A>G (p.Ile1637Val)
c.4906A>G (p.Ile1636Val)
c.4861A>G (p.Ile1621Val)
c.3985A>G (p.Ile1329Val)
c.3754A>G (p.Ile1252Val)
 dbSNP gnomAD v2
10g.94283861A>TCA377652485PLCE1,PLCE1-AS1c.3943A>T (p.Ile1315Phe)
c.*1410A>T (n.*1410A>T)
n.1602A>T
c.*151A>T (n.*151A>T)
c.3895A>T (p.Ile1299Phe)
n.9075A>T
n.2540A>T
c.4867A>T (p.Ile1623Phe)
c.4819A>T (p.Ile1607Phe)
c.3841A>T (p.Ile1281Phe)
c.3422A>T
c.2983A>T (p.Ile995Phe)
c.*800A>T (n.*800A>T)
c.4136A>T
c.3712A>T (p.Ile1238Phe)
n.231-375T>A
c.4909A>T (p.Ile1637Phe)
c.4906A>T (p.Ile1636Phe)
c.4861A>T (p.Ile1621Phe)
c.3985A>T (p.Ile1329Phe)
c.3754A>T (p.Ile1252Phe)
10g.94283862T>ACA377652486PLCE1,PLCE1-AS1c.3944T>A (p.Ile1315Asn)
c.*1411T>A (n.*1411T>A)
n.1603T>A
c.*152T>A (n.*152T>A)
c.3896T>A (p.Ile1299Asn)
n.9076T>A
n.2541T>A
c.4868T>A (p.Ile1623Asn)
c.4820T>A (p.Ile1607Asn)
c.3842T>A (p.Ile1281Asn)
c.3423T>A
c.2984T>A (p.Ile995Asn)
c.*801T>A (n.*801T>A)
c.4137T>A
c.3713T>A (p.Ile1238Asn)
n.231-376A>T
c.4910T>A (p.Ile1637Asn)
c.4907T>A (p.Ile1636Asn)
c.4862T>A (p.Ile1621Asn)
c.3986T>A (p.Ile1329Asn)
c.3755T>A (p.Ile1252Asn)
 gnomAD v4
10g.94283862T>CCA377652488PLCE1,PLCE1-AS1c.3944T>C (p.Ile1315Thr)
c.*1411T>C (n.*1411T>C)
n.1603T>C
c.*152T>C (n.*152T>C)
c.3896T>C (p.Ile1299Thr)
n.9076T>C
n.2541T>C
c.4868T>C (p.Ile1623Thr)
c.4820T>C (p.Ile1607Thr)
c.3842T>C (p.Ile1281Thr)
c.3423T>C
c.2984T>C (p.Ile995Thr)
c.*801T>C (n.*801T>C)
c.4137T>C
c.3713T>C (p.Ile1238Thr)
n.231-376A>G
c.4910T>C (p.Ile1637Thr)
c.4907T>C (p.Ile1636Thr)
c.4862T>C (p.Ile1621Thr)
c.3986T>C (p.Ile1329Thr)
c.3755T>C (p.Ile1252Thr)
10g.94283862T>GCA377652487PLCE1,PLCE1-AS1c.3944T>G (p.Ile1315Ser)
c.*1411T>G (n.*1411T>G)
n.1603T>G
c.*152T>G (n.*152T>G)
c.3896T>G (p.Ile1299Ser)
n.9076T>G
n.2541T>G
c.4868T>G (p.Ile1623Ser)
c.4820T>G (p.Ile1607Ser)
c.3842T>G (p.Ile1281Ser)
c.3423T>G
c.2984T>G (p.Ile995Ser)
c.*801T>G (n.*801T>G)
c.4137T>G
c.3713T>G (p.Ile1238Ser)
n.231-376A>C
c.4910T>G (p.Ile1637Ser)
c.4907T>G (p.Ile1636Ser)
c.4862T>G (p.Ile1621Ser)
c.3986T>G (p.Ile1329Ser)
c.3755T>G (p.Ile1252Ser)
10g.94283863C>ACA470818853PLCE1,PLCE1-AS1c.3945C>A (p.Ile1315=)
c.*1412C>A (n.*1412C>A)
n.1604C>A
c.*153C>A (n.*153C>A)
c.3897C>A (p.Ile1299=)
n.9077C>A
n.2542C>A
c.4869C>A (p.Ile1623=)
c.4821C>A (p.Ile1607=)
c.3843C>A (p.Ile1281=)
c.3424C>A
c.2985C>A (p.Ile995=)
c.*802C>A (n.*802C>A)
c.4138C>A
c.3714C>A (p.Ile1238=)
n.231-377G>T
c.4911C>A (p.Ile1637=)
c.4908C>A (p.Ile1636=)
c.4863C>A (p.Ile1621=)
c.3987C>A (p.Ile1329=)
c.3756C>A (p.Ile1252=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94283863C=CA1928990350PLCE1,PLCE1-AS1c.3945C= (p.Ile1315=)
c.*1412C= (n.*1412C=)
n.1604C=
c.*153C= (n.*153C=)
c.3897C= (p.Ile1299=)
n.9077C=
n.2542C=
c.4869C= (p.Ile1623=)
c.4821C= (p.Ile1607=)
c.3843C= (p.Ile1281=)
c.3424C=
c.2985C= (p.Ile995=)
c.*802C= (n.*802C=)
c.4138C=
c.3714C= (p.Ile1238=)
n.231-377G=
c.4911C= (p.Ile1637=)
c.4908C= (p.Ile1636=)
c.4863C= (p.Ile1621=)
c.3987C= (p.Ile1329=)
c.3756C= (p.Ile1252=)
10g.94283863C>GCA377652489PLCE1,PLCE1-AS1c.3945C>G (p.Ile1315Met)
c.*1412C>G (n.*1412C>G)
n.1604C>G
c.*153C>G (n.*153C>G)
c.3897C>G (p.Ile1299Met)
n.9077C>G
n.2542C>G
c.4869C>G (p.Ile1623Met)
c.4821C>G (p.Ile1607Met)
c.3843C>G (p.Ile1281Met)
c.3424C>G
c.2985C>G (p.Ile995Met)
c.*802C>G (n.*802C>G)
c.4138C>G
c.3714C>G (p.Ile1238Met)
n.231-377G>C
c.4911C>G (p.Ile1637Met)
c.4908C>G (p.Ile1636Met)
c.4863C>G (p.Ile1621Met)
c.3987C>G (p.Ile1329Met)
c.3756C>G (p.Ile1252Met)
10g.94283863C>TCA470818854PLCE1,PLCE1-AS1c.3945C>T (p.Ile1315=)
c.*1412C>T (n.*1412C>T)
n.1604C>T
c.*153C>T (n.*153C>T)
c.3897C>T (p.Ile1299=)
n.9077C>T
n.2542C>T
c.4869C>T (p.Ile1623=)
c.4821C>T (p.Ile1607=)
c.3843C>T (p.Ile1281=)
c.3424C>T
c.2985C>T (p.Ile995=)
c.*802C>T (n.*802C>T)
c.4138C>T
c.3714C>T (p.Ile1238=)
n.231-377G>A
c.4911C>T (p.Ile1637=)
c.4908C>T (p.Ile1636=)
c.4863C>T (p.Ile1621=)
c.3987C>T (p.Ile1329=)
c.3756C>T (p.Ile1252=)
10g.94283864C>ACA377652490PLCE1,PLCE1-AS1c.3946C>A (p.Pro1316Thr)
c.*1413C>A (n.*1413C>A)
n.1605C>A
c.*154C>A (n.*154C>A)
c.3898C>A (p.Pro1300Thr)
n.9078C>A
n.2543C>A
c.4870C>A (p.Pro1624Thr)
c.4822C>A (p.Pro1608Thr)
c.3844C>A (p.Pro1282Thr)
c.3425C>A
c.2986C>A (p.Pro996Thr)
c.*803C>A (n.*803C>A)
c.4139C>A
c.3715C>A (p.Pro1239Thr)
n.231-378G>T
c.4912C>A (p.Pro1638Thr)
c.4909C>A (p.Pro1637Thr)
c.4864C>A (p.Pro1622Thr)
c.3988C>A (p.Pro1330Thr)
c.3757C>A (p.Pro1253Thr)
10g.94283864C>GCA377652491PLCE1,PLCE1-AS1c.3946C>G (p.Pro1316Ala)
c.*1413C>G (n.*1413C>G)
n.1605C>G
c.*154C>G (n.*154C>G)
c.3898C>G (p.Pro1300Ala)
n.9078C>G
n.2543C>G
c.4870C>G (p.Pro1624Ala)
c.4822C>G (p.Pro1608Ala)
c.3844C>G (p.Pro1282Ala)
c.3425C>G
c.2986C>G (p.Pro996Ala)
c.*803C>G (n.*803C>G)
c.4139C>G
c.3715C>G (p.Pro1239Ala)
n.231-378G>C
c.4912C>G (p.Pro1638Ala)
c.4909C>G (p.Pro1637Ala)
c.4864C>G (p.Pro1622Ala)
c.3988C>G (p.Pro1330Ala)
c.3757C>G (p.Pro1253Ala)
10g.94283864C>TCA377652492PLCE1,PLCE1-AS1c.3946C>T (p.Pro1316Ser)
c.*1413C>T (n.*1413C>T)
n.1605C>T
c.*154C>T (n.*154C>T)
c.3898C>T (p.Pro1300Ser)
n.9078C>T
n.2543C>T
c.4870C>T (p.Pro1624Ser)
c.4822C>T (p.Pro1608Ser)
c.3844C>T (p.Pro1282Ser)
c.3425C>T
c.2986C>T (p.Pro996Ser)
c.*803C>T (n.*803C>T)
c.4139C>T
c.3715C>T (p.Pro1239Ser)
n.231-378G>A
c.4912C>T (p.Pro1638Ser)
c.4909C>T (p.Pro1637Ser)
c.4864C>T (p.Pro1622Ser)
c.3988C>T (p.Pro1330Ser)
c.3757C>T (p.Pro1253Ser)
10g.94283865C>ACA377652493PLCE1,PLCE1-AS1c.3947C>A (p.Pro1316Gln)
c.*1414C>A (n.*1414C>A)
n.1606C>A
c.*155C>A (n.*155C>A)
c.3899C>A (p.Pro1300Gln)
n.9079C>A
n.2544C>A
c.4871C>A (p.Pro1624Gln)
c.4823C>A (p.Pro1608Gln)
c.3845C>A (p.Pro1282Gln)
c.3426C>A
c.2987C>A (p.Pro996Gln)
c.*804C>A (n.*804C>A)
c.4140C>A
c.3716C>A (p.Pro1239Gln)
n.231-379G>T
c.4913C>A (p.Pro1638Gln)
c.4910C>A (p.Pro1637Gln)
c.4865C>A (p.Pro1622Gln)
c.3989C>A (p.Pro1330Gln)
c.3758C>A (p.Pro1253Gln)
10g.94283865C>GCA377652495PLCE1,PLCE1-AS1c.3947C>G (p.Pro1316Arg)
c.*1414C>G (n.*1414C>G)
n.1606C>G
c.*155C>G (n.*155C>G)
c.3899C>G (p.Pro1300Arg)
n.9079C>G
n.2544C>G
c.4871C>G (p.Pro1624Arg)
c.4823C>G (p.Pro1608Arg)
c.3845C>G (p.Pro1282Arg)
c.3426C>G
c.2987C>G (p.Pro996Arg)
c.*804C>G (n.*804C>G)
c.4140C>G
c.3716C>G (p.Pro1239Arg)
n.231-379G>C
c.4913C>G (p.Pro1638Arg)
c.4910C>G (p.Pro1637Arg)
c.4865C>G (p.Pro1622Arg)
c.3989C>G (p.Pro1330Arg)
c.3758C>G (p.Pro1253Arg)
10g.94283865C>TCA377652494PLCE1,PLCE1-AS1c.3947C>T (p.Pro1316Leu)
c.*1414C>T (n.*1414C>T)
n.1606C>T
c.*155C>T (n.*155C>T)
c.3899C>T (p.Pro1300Leu)
n.9079C>T
n.2544C>T
c.4871C>T (p.Pro1624Leu)
c.4823C>T (p.Pro1608Leu)
c.3845C>T (p.Pro1282Leu)
c.3426C>T
c.2987C>T (p.Pro996Leu)
c.*804C>T (n.*804C>T)
c.4140C>T
c.3716C>T (p.Pro1239Leu)
n.231-379G>A
c.4913C>T (p.Pro1638Leu)
c.4910C>T (p.Pro1637Leu)
c.4865C>T (p.Pro1622Leu)
c.3989C>T (p.Pro1330Leu)
c.3758C>T (p.Pro1253Leu)
 COSMIC COSMIC COSMIC COSMIC
10g.94283866A>CCA470818855PLCE1,PLCE1-AS1c.3948A>C (p.Pro1316=)
c.*1415A>C (n.*1415A>C)
n.1607A>C
c.*156A>C (n.*156A>C)
c.3900A>C (p.Pro1300=)
n.9080A>C
n.2545A>C
c.4872A>C (p.Pro1624=)
c.4824A>C (p.Pro1608=)
c.3846A>C (p.Pro1282=)
c.3427A>C
c.2988A>C (p.Pro996=)
c.*805A>C (n.*805A>C)
c.4141A>C
c.3717A>C (p.Pro1239=)
n.231-380T>G
c.4914A>C (p.Pro1638=)
c.4911A>C (p.Pro1637=)
c.4866A>C (p.Pro1622=)
c.3990A>C (p.Pro1330=)
c.3759A>C (p.Pro1253=)
10g.94283866A>GCA470818856PLCE1,PLCE1-AS1c.3948A>G (p.Pro1316=)
c.*1415A>G (n.*1415A>G)
n.1607A>G
c.*156A>G (n.*156A>G)
c.3900A>G (p.Pro1300=)
n.9080A>G
n.2545A>G
c.4872A>G (p.Pro1624=)
c.4824A>G (p.Pro1608=)
c.3846A>G (p.Pro1282=)
c.3427A>G
c.2988A>G (p.Pro996=)
c.*805A>G (n.*805A>G)
c.4141A>G
c.3717A>G (p.Pro1239=)
n.231-380T>C
c.4914A>G (p.Pro1638=)
c.4911A>G (p.Pro1637=)
c.4866A>G (p.Pro1622=)
c.3990A>G (p.Pro1330=)
c.3759A>G (p.Pro1253=)
10g.94283866A>TCA470818857PLCE1,PLCE1-AS1c.3948A>T (p.Pro1316=)
c.*1415A>T (n.*1415A>T)
n.1607A>T
c.*156A>T (n.*156A>T)
c.3900A>T (p.Pro1300=)
n.9080A>T
n.2545A>T
c.4872A>T (p.Pro1624=)
c.4824A>T (p.Pro1608=)
c.3846A>T (p.Pro1282=)
c.3427A>T
c.2988A>T (p.Pro996=)
c.*805A>T (n.*805A>T)
c.4141A>T
c.3717A>T (p.Pro1239=)
n.231-380T>A
c.4914A>T (p.Pro1638=)
c.4911A>T (p.Pro1637=)
c.4866A>T (p.Pro1622=)
c.3990A>T (p.Pro1330=)
c.3759A>T (p.Pro1253=)
10g.94283867A>CCA377652496PLCE1,PLCE1-AS1c.3949A>C (p.Lys1317Gln)
c.*1416A>C (n.*1416A>C)
n.1608A>C
c.*157A>C (n.*157A>C)
c.3901A>C (p.Lys1301Gln)
n.9081A>C
n.2546A>C
c.4873A>C (p.Lys1625Gln)
c.4825A>C (p.Lys1609Gln)
c.3847A>C (p.Lys1283Gln)
c.3428A>C
c.2989A>C (p.Lys997Gln)
c.*806A>C (n.*806A>C)
c.4142A>C
c.3718A>C (p.Lys1240Gln)
n.231-381T>G
c.4915A>C (p.Lys1639Gln)
c.4912A>C (p.Lys1638Gln)
c.4867A>C (p.Lys1623Gln)
c.3991A>C (p.Lys1331Gln)
c.3760A>C (p.Lys1254Gln)
10g.94283867A>GCA377652497PLCE1,PLCE1-AS1c.3949A>G (p.Lys1317Glu)
c.*1416A>G (n.*1416A>G)
n.1608A>G
c.*157A>G (n.*157A>G)
c.3901A>G (p.Lys1301Glu)
n.9081A>G
n.2546A>G
c.4873A>G (p.Lys1625Glu)
c.4825A>G (p.Lys1609Glu)
c.3847A>G (p.Lys1283Glu)
c.3428A>G
c.2989A>G (p.Lys997Glu)
c.*806A>G (n.*806A>G)
c.4142A>G
c.3718A>G (p.Lys1240Glu)
n.231-381T>C
c.4915A>G (p.Lys1639Glu)
c.4912A>G (p.Lys1638Glu)
c.4867A>G (p.Lys1623Glu)
c.3991A>G (p.Lys1331Glu)
c.3760A>G (p.Lys1254Glu)
10g.94283867A>TCA377652498PLCE1,PLCE1-AS1c.3949A>T (p.Lys1317Ter)
c.*1416A>T (n.*1416A>T)
n.1608A>T
c.*157A>T (n.*157A>T)
c.3901A>T (p.Lys1301Ter)
n.9081A>T
n.2546A>T
c.4873A>T (p.Lys1625Ter)
c.4825A>T (p.Lys1609Ter)
c.3847A>T (p.Lys1283Ter)
c.3428A>T
c.2989A>T (p.Lys997Ter)
c.*806A>T (n.*806A>T)
c.4142A>T
c.3718A>T (p.Lys1240Ter)
n.231-381T>A
c.4915A>T (p.Lys1639Ter)
c.4912A>T (p.Lys1638Ter)
c.4867A>T (p.Lys1623Ter)
c.3991A>T (p.Lys1331Ter)
c.3760A>T (p.Lys1254Ter)
10g.94283868A>CCA377652499PLCE1,PLCE1-AS1c.3950A>C (p.Lys1317Thr)
c.*1417A>C (n.*1417A>C)
n.1609A>C
c.*158A>C (n.*158A>C)
c.3902A>C (p.Lys1301Thr)
n.9082A>C
n.2547A>C
c.4874A>C (p.Lys1625Thr)
c.4826A>C (p.Lys1609Thr)
c.3848A>C (p.Lys1283Thr)
c.3429A>C
c.2990A>C (p.Lys997Thr)
c.*807A>C (n.*807A>C)
c.4143A>C
c.3719A>C (p.Lys1240Thr)
n.231-382T>G
c.4916A>C (p.Lys1639Thr)
c.4913A>C (p.Lys1638Thr)
c.4868A>C (p.Lys1623Thr)
c.3992A>C (p.Lys1331Thr)
c.3761A>C (p.Lys1254Thr)
10g.94283868A>GCA377652500PLCE1,PLCE1-AS1c.3950A>G (p.Lys1317Arg)
c.*1417A>G (n.*1417A>G)
n.1609A>G
c.*158A>G (n.*158A>G)
c.3902A>G (p.Lys1301Arg)
n.9082A>G
n.2547A>G
c.4874A>G (p.Lys1625Arg)
c.4826A>G (p.Lys1609Arg)
c.3848A>G (p.Lys1283Arg)
c.3429A>G
c.2990A>G (p.Lys997Arg)
c.*807A>G (n.*807A>G)
c.4143A>G
c.3719A>G (p.Lys1240Arg)
n.231-382T>C
c.4916A>G (p.Lys1639Arg)
c.4913A>G (p.Lys1638Arg)
c.4868A>G (p.Lys1623Arg)
c.3992A>G (p.Lys1331Arg)
c.3761A>G (p.Lys1254Arg)
 gnomAD v4
10g.94283868A>TCA377652501PLCE1,PLCE1-AS1c.3950A>T (p.Lys1317Met)
c.*1417A>T (n.*1417A>T)
n.1609A>T
c.*158A>T (n.*158A>T)
c.3902A>T (p.Lys1301Met)
n.9082A>T
n.2547A>T
c.4874A>T (p.Lys1625Met)
c.4826A>T (p.Lys1609Met)
c.3848A>T (p.Lys1283Met)
c.3429A>T
c.2990A>T (p.Lys997Met)
c.*807A>T (n.*807A>T)
c.4143A>T
c.3719A>T (p.Lys1240Met)
n.231-382T>A
c.4916A>T (p.Lys1639Met)
c.4913A>T (p.Lys1638Met)
c.4868A>T (p.Lys1623Met)
c.3992A>T (p.Lys1331Met)
c.3761A>T (p.Lys1254Met)
10g.94283869G>ACA470818858PLCE1,PLCE1-AS1c.3951G>A (p.Lys1317=)
c.*1418G>A (n.*1418G>A)
n.1610G>A
c.*159G>A (n.*159G>A)
c.3903G>A (p.Lys1301=)
n.9083G>A
n.2548G>A
c.4875G>A (p.Lys1625=)
c.4827G>A (p.Lys1609=)
c.3849G>A (p.Lys1283=)
c.3430G>A
c.2991G>A (p.Lys997=)
c.*808G>A (n.*808G>A)
c.4144G>A
c.3720G>A (p.Lys1240=)
n.231-383C>T
c.4917G>A (p.Lys1639=)
c.4914G>A (p.Lys1638=)
c.4869G>A (p.Lys1623=)
c.3993G>A (p.Lys1331=)
c.3762G>A (p.Lys1254=)
 COSMIC COSMIC COSMIC
10g.94283869G>CCA377652502PLCE1,PLCE1-AS1c.3951G>C (p.Lys1317Asn)
c.*1418G>C (n.*1418G>C)
n.1610G>C
c.*159G>C (n.*159G>C)
c.3903G>C (p.Lys1301Asn)
n.9083G>C
n.2548G>C
c.4875G>C (p.Lys1625Asn)
c.4827G>C (p.Lys1609Asn)
c.3849G>C (p.Lys1283Asn)
c.3430G>C
c.2991G>C (p.Lys997Asn)
c.*808G>C (n.*808G>C)
c.4144G>C
c.3720G>C (p.Lys1240Asn)
n.231-383C>G
c.4917G>C (p.Lys1639Asn)
c.4914G>C (p.Lys1638Asn)
c.4869G>C (p.Lys1623Asn)
c.3993G>C (p.Lys1331Asn)
c.3762G>C (p.Lys1254Asn)
10g.94283869G>TCA377652503PLCE1,PLCE1-AS1c.3951G>T (p.Lys1317Asn)
c.*1418G>T (n.*1418G>T)
n.1610G>T
c.*159G>T (n.*159G>T)
c.3903G>T (p.Lys1301Asn)
n.9083G>T
n.2548G>T
c.4875G>T (p.Lys1625Asn)
c.4827G>T (p.Lys1609Asn)
c.3849G>T (p.Lys1283Asn)
c.3430G>T
c.2991G>T (p.Lys997Asn)
c.*808G>T (n.*808G>T)
c.4144G>T
c.3720G>T (p.Lys1240Asn)
n.231-383C>A
c.4917G>T (p.Lys1639Asn)
c.4914G>T (p.Lys1638Asn)
c.4869G>T (p.Lys1623Asn)
c.3993G>T (p.Lys1331Asn)
c.3762G>T (p.Lys1254Asn)
10g.94283870A>CCA470818859PLCE1,PLCE1-AS1c.3952A>C (p.Arg1318=)
c.*1419A>C (n.*1419A>C)
n.1611A>C
c.*160A>C (n.*160A>C)
c.3904A>C (p.Arg1302=)
n.9084A>C
n.2549A>C
c.4876A>C (p.Arg1626=)
c.4828A>C (p.Arg1610=)
c.3850A>C (p.Arg1284=)
c.3431A>C
c.2992A>C (p.Arg998=)
c.*809A>C (n.*809A>C)
c.4145A>C
c.3721A>C (p.Arg1241=)
n.231-384T>G
c.4918A>C (p.Arg1640=)
c.4915A>C (p.Arg1639=)
c.4870A>C (p.Arg1624=)
c.3994A>C (p.Arg1332=)
c.3763A>C (p.Arg1255=)
10g.94283870A>GCA377652504PLCE1,PLCE1-AS1c.3952A>G (p.Arg1318Gly)
c.*1419A>G (n.*1419A>G)
n.1611A>G
c.*160A>G (n.*160A>G)
c.3904A>G (p.Arg1302Gly)
n.9084A>G
n.2549A>G
c.4876A>G (p.Arg1626Gly)
c.4828A>G (p.Arg1610Gly)
c.3850A>G (p.Arg1284Gly)
c.3431A>G
c.2992A>G (p.Arg998Gly)
c.*809A>G (n.*809A>G)
c.4145A>G
c.3721A>G (p.Arg1241Gly)
n.231-384T>C
c.4918A>G (p.Arg1640Gly)
c.4915A>G (p.Arg1639Gly)
c.4870A>G (p.Arg1624Gly)
c.3994A>G (p.Arg1332Gly)
c.3763A>G (p.Arg1255Gly)
10g.94283870A>TCA377652505PLCE1,PLCE1-AS1c.3952A>T (p.Arg1318Trp)
c.*1419A>T (n.*1419A>T)
n.1611A>T
c.*160A>T (n.*160A>T)
c.3904A>T (p.Arg1302Trp)
n.9084A>T
n.2549A>T
c.4876A>T (p.Arg1626Trp)
c.4828A>T (p.Arg1610Trp)
c.3850A>T (p.Arg1284Trp)
c.3431A>T
c.2992A>T (p.Arg998Trp)
c.*809A>T (n.*809A>T)
c.4145A>T
c.3721A>T (p.Arg1241Trp)
n.231-384T>A
c.4918A>T (p.Arg1640Trp)
c.4915A>T (p.Arg1639Trp)
c.4870A>T (p.Arg1624Trp)
c.3994A>T (p.Arg1332Trp)
c.3763A>T (p.Arg1255Trp)
10g.94283871G>ACA377652508PLCE1,PLCE1-AS1c.3953G>A (p.Arg1318Lys)
c.*1420G>A (n.*1420G>A)
n.1612G>A
c.*161G>A (n.*161G>A)
c.3905G>A (p.Arg1302Lys)
n.9085G>A
n.2550G>A
c.4877G>A (p.Arg1626Lys)
c.4829G>A (p.Arg1610Lys)
c.3851G>A (p.Arg1284Lys)
c.3432G>A
c.2993G>A (p.Arg998Lys)
c.*810G>A (n.*810G>A)
c.4146G>A
c.3722G>A (p.Arg1241Lys)
n.231-385C>T
c.4919G>A (p.Arg1640Lys)
c.4916G>A (p.Arg1639Lys)
c.4871G>A (p.Arg1624Lys)
c.3995G>A (p.Arg1332Lys)
c.3764G>A (p.Arg1255Lys)
 dbSNP gnomAD v4
10g.94283871G>CCA377652507PLCE1,PLCE1-AS1c.3953G>C (p.Arg1318Thr)
c.*1420G>C (n.*1420G>C)
n.1612G>C
c.*161G>C (n.*161G>C)
c.3905G>C (p.Arg1302Thr)
n.9085G>C
n.2550G>C
c.4877G>C (p.Arg1626Thr)
c.4829G>C (p.Arg1610Thr)
c.3851G>C (p.Arg1284Thr)
c.3432G>C
c.2993G>C (p.Arg998Thr)
c.*810G>C (n.*810G>C)
c.4146G>C
c.3722G>C (p.Arg1241Thr)
n.231-385C>G
c.4919G>C (p.Arg1640Thr)
c.4916G>C (p.Arg1639Thr)
c.4871G>C (p.Arg1624Thr)
c.3995G>C (p.Arg1332Thr)
c.3764G>C (p.Arg1255Thr)
10g.94283871G=CA1928990353PLCE1,PLCE1-AS1c.3953G= (p.Arg1318=)
c.*1420G= (n.*1420G=)
n.1612G=
c.*161G= (n.*161G=)
c.3905G= (p.Arg1302=)
n.9085G=
n.2550G=
c.4877G= (p.Arg1626=)
c.4829G= (p.Arg1610=)
c.3851G= (p.Arg1284=)
c.3432G=
c.2993G= (p.Arg998=)
c.*810G= (n.*810G=)
c.4146G=
c.3722G= (p.Arg1241=)
n.231-385C=
c.4919G= (p.Arg1640=)
c.4916G= (p.Arg1639=)
c.4871G= (p.Arg1624=)
c.3995G= (p.Arg1332=)
c.3764G= (p.Arg1255=)
10g.94283871G>TCA377652506PLCE1,PLCE1-AS1c.3953G>T (p.Arg1318Met)
c.*1420G>T (n.*1420G>T)
n.1612G>T
c.*161G>T (n.*161G>T)
c.3905G>T (p.Arg1302Met)
n.9085G>T
n.2550G>T
c.4877G>T (p.Arg1626Met)
c.4829G>T (p.Arg1610Met)
c.3851G>T (p.Arg1284Met)
c.3432G>T
c.2993G>T (p.Arg998Met)
c.*810G>T (n.*810G>T)
c.4146G>T
c.3722G>T (p.Arg1241Met)
n.231-385C>A
c.4919G>T (p.Arg1640Met)
c.4916G>T (p.Arg1639Met)
c.4871G>T (p.Arg1624Met)
c.3995G>T (p.Arg1332Met)
c.3764G>T (p.Arg1255Met)
 dbSNP gnomAD v2
10g.94283872G>ACA211628227PLCE1,PLCE1-AS1c.3954G>A (p.Arg1318=)
c.*1421G>A (n.*1421G>A)
n.1613G>A
c.*162G>A (n.*162G>A)
c.3906G>A (p.Arg1302=)
n.9086G>A
n.2551G>A
c.4878G>A (p.Arg1626=)
c.4830G>A (p.Arg1610=)
c.3852G>A (p.Arg1284=)
c.3433G>A
c.2994G>A (p.Arg998=)
c.*811G>A (n.*811G>A)
c.4147G>A
c.3723G>A (p.Arg1241=)
n.231-386C>T
c.4920G>A (p.Arg1640=)
c.4917G>A (p.Arg1639=)
c.4872G>A (p.Arg1624=)
c.3996G>A (p.Arg1332=)
c.3765G>A (p.Arg1255=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94283872G>CCA377652509PLCE1,PLCE1-AS1c.3954G>C (p.Arg1318Ser)
c.*1421G>C (n.*1421G>C)
n.1613G>C
c.*162G>C (n.*162G>C)
c.3906G>C (p.Arg1302Ser)
n.9086G>C
n.2551G>C
c.4878G>C (p.Arg1626Ser)
c.4830G>C (p.Arg1610Ser)
c.3852G>C (p.Arg1284Ser)
c.3433G>C
c.2994G>C (p.Arg998Ser)
c.*811G>C (n.*811G>C)
c.4147G>C
c.3723G>C (p.Arg1241Ser)
n.231-386C>G
c.4920G>C (p.Arg1640Ser)
c.4917G>C (p.Arg1639Ser)
c.4872G>C (p.Arg1624Ser)
c.3996G>C (p.Arg1332Ser)
c.3765G>C (p.Arg1255Ser)
10g.94283872G=CA1928990356PLCE1,PLCE1-AS1c.3954G= (p.Arg1318=)
c.*1421G= (n.*1421G=)
n.1613G=
c.*162G= (n.*162G=)
c.3906G= (p.Arg1302=)
n.9086G=
n.2551G=
c.4878G= (p.Arg1626=)
c.4830G= (p.Arg1610=)
c.3852G= (p.Arg1284=)
c.3433G=
c.2994G= (p.Arg998=)
c.*811G= (n.*811G=)
c.4147G=
c.3723G= (p.Arg1241=)
n.231-386C=
c.4920G= (p.Arg1640=)
c.4917G= (p.Arg1639=)
c.4872G= (p.Arg1624=)
c.3996G= (p.Arg1332=)
c.3765G= (p.Arg1255=)
10g.94283872G>TCA377652510PLCE1,PLCE1-AS1c.3954G>T (p.Arg1318Ser)
c.*1421G>T (n.*1421G>T)
n.1613G>T
c.*162G>T (n.*162G>T)
c.3906G>T (p.Arg1302Ser)
n.9086G>T
n.2551G>T
c.4878G>T (p.Arg1626Ser)
c.4830G>T (p.Arg1610Ser)
c.3852G>T (p.Arg1284Ser)
c.3433G>T
c.2994G>T (p.Arg998Ser)
c.*811G>T (n.*811G>T)
c.4147G>T
c.3723G>T (p.Arg1241Ser)
n.231-386C>A
c.4920G>T (p.Arg1640Ser)
c.4917G>T (p.Arg1639Ser)
c.4872G>T (p.Arg1624Ser)
c.3996G>T (p.Arg1332Ser)
c.3765G>T (p.Arg1255Ser)
10g.94283873A=CA1928990359PLCE1,PLCE1-AS1c.3955A= (p.Ile1319=)
c.*1422A= (n.*1422A=)
n.1614A=
c.*163A= (n.*163A=)
c.3907A= (p.Ile1303=)
n.9087A=
n.2552A=
c.4879A= (p.Ile1627=)
c.4831A= (p.Ile1611=)
c.3853A= (p.Ile1285=)
c.3434A=
c.2995A= (p.Ile999=)
c.*812A= (n.*812A=)
c.4148A=
c.3724A= (p.Ile1242=)
n.231-387T=
c.4921A= (p.Ile1641=)
c.4918A= (p.Ile1640=)
c.4873A= (p.Ile1625=)
c.3997A= (p.Ile1333=)
c.3766A= (p.Ile1256=)
10g.94283873A>CCA377652511PLCE1,PLCE1-AS1c.3955A>C (p.Ile1319Leu)
c.*1422A>C (n.*1422A>C)
n.1614A>C
c.*163A>C (n.*163A>C)
c.3907A>C (p.Ile1303Leu)
n.9087A>C
n.2552A>C
c.4879A>C (p.Ile1627Leu)
c.4831A>C (p.Ile1611Leu)
c.3853A>C (p.Ile1285Leu)
c.3434A>C
c.2995A>C (p.Ile999Leu)
c.*812A>C (n.*812A>C)
c.4148A>C
c.3724A>C (p.Ile1242Leu)
n.231-387T>G
c.4921A>C (p.Ile1641Leu)
c.4918A>C (p.Ile1640Leu)
c.4873A>C (p.Ile1625Leu)
c.3997A>C (p.Ile1333Leu)
c.3766A>C (p.Ile1256Leu)
10g.94283873A>GCA211628231PLCE1,PLCE1-AS1c.3955A>G (p.Ile1319Val)
c.*1422A>G (n.*1422A>G)
n.1614A>G
c.*163A>G (n.*163A>G)
c.3907A>G (p.Ile1303Val)
n.9087A>G
n.2552A>G
c.4879A>G (p.Ile1627Val)
c.4831A>G (p.Ile1611Val)
c.3853A>G (p.Ile1285Val)
c.3434A>G
c.2995A>G (p.Ile999Val)
c.*812A>G (n.*812A>G)
c.4148A>G
c.3724A>G (p.Ile1242Val)
n.231-387T>C
c.4921A>G (p.Ile1641Val)
c.4918A>G (p.Ile1640Val)
c.4873A>G (p.Ile1625Val)
c.3997A>G (p.Ile1333Val)
c.3766A>G (p.Ile1256Val)
 dbSNP
10g.94283873A>TCA377652512PLCE1,PLCE1-AS1c.3955A>T (p.Ile1319Leu)
c.*1422A>T (n.*1422A>T)
n.1614A>T
c.*163A>T (n.*163A>T)
c.3907A>T (p.Ile1303Leu)
n.9087A>T
n.2552A>T
c.4879A>T (p.Ile1627Leu)
c.4831A>T (p.Ile1611Leu)
c.3853A>T (p.Ile1285Leu)
c.3434A>T
c.2995A>T (p.Ile999Leu)
c.*812A>T (n.*812A>T)
c.4148A>T
c.3724A>T (p.Ile1242Leu)
n.231-387T>A
c.4921A>T (p.Ile1641Leu)
c.4918A>T (p.Ile1640Leu)
c.4873A>T (p.Ile1625Leu)
c.3997A>T (p.Ile1333Leu)
c.3766A>T (p.Ile1256Leu)
 ClinVar gnomAD v4
10g.94283874T>ACA377652513PLCE1,PLCE1-AS1c.3956T>A (p.Ile1319Lys)
c.*1423T>A (n.*1423T>A)
n.1615T>A
c.*164T>A (n.*164T>A)
c.3908T>A (p.Ile1303Lys)
n.9088T>A
n.2553T>A
c.4880T>A (p.Ile1627Lys)
c.4832T>A (p.Ile1611Lys)
c.3854T>A (p.Ile1285Lys)
c.3435T>A
c.2996T>A (p.Ile999Lys)
c.*813T>A (n.*813T>A)
c.4149T>A
c.3725T>A (p.Ile1242Lys)
n.231-388A>T
c.4922T>A (p.Ile1641Lys)
c.4919T>A (p.Ile1640Lys)
c.4874T>A (p.Ile1625Lys)
c.3998T>A (p.Ile1333Lys)
c.3767T>A (p.Ile1256Lys)
10g.94283874T>CCA377652514PLCE1,PLCE1-AS1c.3956T>C (p.Ile1319Thr)
c.*1423T>C (n.*1423T>C)
n.1615T>C
c.*164T>C (n.*164T>C)
c.3908T>C (p.Ile1303Thr)
n.9088T>C
n.2553T>C
c.4880T>C (p.Ile1627Thr)
c.4832T>C (p.Ile1611Thr)
c.3854T>C (p.Ile1285Thr)
c.3435T>C
c.2996T>C (p.Ile999Thr)
c.*813T>C (n.*813T>C)
c.4149T>C
c.3725T>C (p.Ile1242Thr)
n.231-388A>G
c.4922T>C (p.Ile1641Thr)
c.4919T>C (p.Ile1640Thr)
c.4874T>C (p.Ile1625Thr)
c.3998T>C (p.Ile1333Thr)
c.3767T>C (p.Ile1256Thr)
 gnomAD v4
10g.94283874T>GCA377652515PLCE1,PLCE1-AS1c.3956T>G (p.Ile1319Arg)
c.*1423T>G (n.*1423T>G)
n.1615T>G
c.*164T>G (n.*164T>G)
c.3908T>G (p.Ile1303Arg)
n.9088T>G
n.2553T>G
c.4880T>G (p.Ile1627Arg)
c.4832T>G (p.Ile1611Arg)
c.3854T>G (p.Ile1285Arg)
c.3435T>G
c.2996T>G (p.Ile999Arg)
c.*813T>G (n.*813T>G)
c.4149T>G
c.3725T>G (p.Ile1242Arg)
n.231-388A>C
c.4922T>G (p.Ile1641Arg)
c.4919T>G (p.Ile1640Arg)
c.4874T>G (p.Ile1625Arg)
c.3998T>G (p.Ile1333Arg)
c.3767T>G (p.Ile1256Arg)
10g.94283875A>CCA470818860PLCE1,PLCE1-AS1c.3957A>C (p.Ile1319=)
c.*1424A>C (n.*1424A>C)
n.1616A>C
c.*165A>C (n.*165A>C)
c.3909A>C (p.Ile1303=)
n.9089A>C
n.2554A>C
c.4881A>C (p.Ile1627=)
c.4833A>C (p.Ile1611=)
c.3855A>C (p.Ile1285=)
c.3436A>C
c.2997A>C (p.Ile999=)
c.*814A>C (n.*814A>C)
c.4150A>C
c.3726A>C (p.Ile1242=)
n.231-389T>G
c.4923A>C (p.Ile1641=)
c.4920A>C (p.Ile1640=)
c.4875A>C (p.Ile1625=)
c.3999A>C (p.Ile1333=)
c.3768A>C (p.Ile1256=)
10g.94283875A>GCA377652516PLCE1,PLCE1-AS1c.3957A>G (p.Ile1319Met)
c.*1424A>G (n.*1424A>G)
n.1616A>G
c.*165A>G (n.*165A>G)
c.3909A>G (p.Ile1303Met)
n.9089A>G
n.2554A>G
c.4881A>G (p.Ile1627Met)
c.4833A>G (p.Ile1611Met)
c.3855A>G (p.Ile1285Met)
c.3436A>G
c.2997A>G (p.Ile999Met)
c.*814A>G (n.*814A>G)
c.4150A>G
c.3726A>G (p.Ile1242Met)
n.231-389T>C
c.4923A>G (p.Ile1641Met)
c.4920A>G (p.Ile1640Met)
c.4875A>G (p.Ile1625Met)
c.3999A>G (p.Ile1333Met)
c.3768A>G (p.Ile1256Met)
10g.94283875A>TCA470818861PLCE1,PLCE1-AS1c.3957A>T (p.Ile1319=)
c.*1424A>T (n.*1424A>T)
n.1616A>T
c.*165A>T (n.*165A>T)
c.3909A>T (p.Ile1303=)
n.9089A>T
n.2554A>T
c.4881A>T (p.Ile1627=)
c.4833A>T (p.Ile1611=)
c.3855A>T (p.Ile1285=)
c.3436A>T
c.2997A>T (p.Ile999=)
c.*814A>T (n.*814A>T)
c.4150A>T
c.3726A>T (p.Ile1242=)
n.231-389T>A
c.4923A>T (p.Ile1641=)
c.4920A>T (p.Ile1640=)
c.4875A>T (p.Ile1625=)
c.3999A>T (p.Ile1333=)
c.3768A>T (p.Ile1256=)
10g.94283876A>CCA377652517PLCE1,PLCE1-AS1c.3958A>C (p.Lys1320Gln)
c.*1425A>C (n.*1425A>C)
n.1617A>C
c.*166A>C (n.*166A>C)
c.3910A>C (p.Lys1304Gln)
n.9090A>C
n.2555A>C
c.4882A>C (p.Lys1628Gln)
c.4834A>C (p.Lys1612Gln)
c.3856A>C (p.Lys1286Gln)
c.3437A>C
c.2998A>C (p.Lys1000Gln)
c.*815A>C (n.*815A>C)
c.4151A>C
c.3727A>C (p.Lys1243Gln)
n.231-390T>G
c.4924A>C (p.Lys1642Gln)
c.4921A>C (p.Lys1641Gln)
c.4876A>C (p.Lys1626Gln)
c.4000A>C (p.Lys1334Gln)
c.3769A>C (p.Lys1257Gln)
10g.94283876A>GCA377652518PLCE1,PLCE1-AS1c.3958A>G (p.Lys1320Glu)
c.*1425A>G (n.*1425A>G)
n.1617A>G
c.*166A>G (n.*166A>G)
c.3910A>G (p.Lys1304Glu)
n.9090A>G
n.2555A>G
c.4882A>G (p.Lys1628Glu)
c.4834A>G (p.Lys1612Glu)
c.3856A>G (p.Lys1286Glu)
c.3437A>G
c.2998A>G (p.Lys1000Glu)
c.*815A>G (n.*815A>G)
c.4151A>G
c.3727A>G (p.Lys1243Glu)
n.231-390T>C
c.4924A>G (p.Lys1642Glu)
c.4921A>G (p.Lys1641Glu)
c.4876A>G (p.Lys1626Glu)
c.4000A>G (p.Lys1334Glu)
c.3769A>G (p.Lys1257Glu)
10g.94283876A>TCA377652519PLCE1,PLCE1-AS1c.3958A>T (p.Lys1320Ter)
c.*1425A>T (n.*1425A>T)
n.1617A>T
c.*166A>T (n.*166A>T)
c.3910A>T (p.Lys1304Ter)
n.9090A>T
n.2555A>T
c.4882A>T (p.Lys1628Ter)
c.4834A>T (p.Lys1612Ter)
c.3856A>T (p.Lys1286Ter)
c.3437A>T
c.2998A>T (p.Lys1000Ter)
c.*815A>T (n.*815A>T)
c.4151A>T
c.3727A>T (p.Lys1243Ter)
n.231-390T>A
c.4924A>T (p.Lys1642Ter)
c.4921A>T (p.Lys1641Ter)
c.4876A>T (p.Lys1626Ter)
c.4000A>T (p.Lys1334Ter)
c.3769A>T (p.Lys1257Ter)
10g.94283877A>CCA377652521PLCE1,PLCE1-AS1c.3959A>C (p.Lys1320Thr)
c.*1426A>C (n.*1426A>C)
n.1618A>C
c.*167A>C (n.*167A>C)
c.3911A>C (p.Lys1304Thr)
n.9091A>C
n.2556A>C
c.4883A>C (p.Lys1628Thr)
c.4835A>C (p.Lys1612Thr)
c.3857A>C (p.Lys1286Thr)
c.3438A>C
c.2999A>C (p.Lys1000Thr)
c.*816A>C (n.*816A>C)
c.4152A>C
c.3728A>C (p.Lys1243Thr)
n.231-391T>G
c.4925A>C (p.Lys1642Thr)
c.4922A>C (p.Lys1641Thr)
c.4877A>C (p.Lys1626Thr)
c.4001A>C (p.Lys1334Thr)
c.3770A>C (p.Lys1257Thr)
10g.94283877A>GCA377652522PLCE1,PLCE1-AS1c.3959A>G (p.Lys1320Arg)
c.*1426A>G (n.*1426A>G)
n.1618A>G
c.*167A>G (n.*167A>G)
c.3911A>G (p.Lys1304Arg)
n.9091A>G
n.2556A>G
c.4883A>G (p.Lys1628Arg)
c.4835A>G (p.Lys1612Arg)
c.3857A>G (p.Lys1286Arg)
c.3438A>G
c.2999A>G (p.Lys1000Arg)
c.*816A>G (n.*816A>G)
c.4152A>G
c.3728A>G (p.Lys1243Arg)
n.231-391T>C
c.4925A>G (p.Lys1642Arg)
c.4922A>G (p.Lys1641Arg)
c.4877A>G (p.Lys1626Arg)
c.4001A>G (p.Lys1334Arg)
c.3770A>G (p.Lys1257Arg)
10g.94283877A>TCA377652520PLCE1,PLCE1-AS1c.3959A>T (p.Lys1320Met)
c.*1426A>T (n.*1426A>T)
n.1618A>T
c.*167A>T (n.*167A>T)
c.3911A>T (p.Lys1304Met)
n.9091A>T
n.2556A>T
c.4883A>T (p.Lys1628Met)
c.4835A>T (p.Lys1612Met)
c.3857A>T (p.Lys1286Met)
c.3438A>T
c.2999A>T (p.Lys1000Met)
c.*816A>T (n.*816A>T)
c.4152A>T
c.3728A>T (p.Lys1243Met)
n.231-391T>A
c.4925A>T (p.Lys1642Met)
c.4922A>T (p.Lys1641Met)
c.4877A>T (p.Lys1626Met)
c.4001A>T (p.Lys1334Met)
c.3770A>T (p.Lys1257Met)
10g.94283878G>ACA211628235PLCE1,PLCE1-AS1c.3960G>A (p.Lys1320=)
c.*1427G>A (n.*1427G>A)
n.1619G>A
c.*168G>A (n.*168G>A)
c.3912G>A (p.Lys1304=)
n.9092G>A
n.2557G>A
c.4884G>A (p.Lys1628=)
c.4836G>A (p.Lys1612=)
c.3858G>A (p.Lys1286=)
c.3439G>A
c.3000G>A (p.Lys1000=)
c.*817G>A (n.*817G>A)
c.4153G>A
c.3729G>A (p.Lys1243=)
n.231-392C>T
c.4926G>A (p.Lys1642=)
c.4923G>A (p.Lys1641=)
c.4878G>A (p.Lys1626=)
c.4002G>A (p.Lys1334=)
c.3771G>A (p.Lys1257=)
 dbSNP gnomAD v4
10g.94283878G>CCA377652523PLCE1,PLCE1-AS1c.3960G>C (p.Lys1320Asn)
c.*1427G>C (n.*1427G>C)
n.1619G>C
c.*168G>C (n.*168G>C)
c.3912G>C (p.Lys1304Asn)
n.9092G>C
n.2557G>C
c.4884G>C (p.Lys1628Asn)
c.4836G>C (p.Lys1612Asn)
c.3858G>C (p.Lys1286Asn)
c.3439G>C
c.3000G>C (p.Lys1000Asn)
c.*817G>C (n.*817G>C)
c.4153G>C
c.3729G>C (p.Lys1243Asn)
n.231-392C>G
c.4926G>C (p.Lys1642Asn)
c.4923G>C (p.Lys1641Asn)
c.4878G>C (p.Lys1626Asn)
c.4002G>C (p.Lys1334Asn)
c.3771G>C (p.Lys1257Asn)
10g.94283878G=CA1928990361PLCE1,PLCE1-AS1c.3960G= (p.Lys1320=)
c.*1427G= (n.*1427G=)
n.1619G=
c.*168G= (n.*168G=)
c.3912G= (p.Lys1304=)
n.9092G=
n.2557G=
c.4884G= (p.Lys1628=)
c.4836G= (p.Lys1612=)
c.3858G= (p.Lys1286=)
c.3439G=
c.3000G= (p.Lys1000=)
c.*817G= (n.*817G=)
c.4153G=
c.3729G= (p.Lys1243=)
n.231-392C=
c.4926G= (p.Lys1642=)
c.4923G= (p.Lys1641=)
c.4878G= (p.Lys1626=)
c.4002G= (p.Lys1334=)
c.3771G= (p.Lys1257=)
10g.94283878G>TCA377652524PLCE1,PLCE1-AS1c.3960G>T (p.Lys1320Asn)
c.*1427G>T (n.*1427G>T)
n.1619G>T
c.*168G>T (n.*168G>T)
c.3912G>T (p.Lys1304Asn)
n.9092G>T
n.2557G>T
c.4884G>T (p.Lys1628Asn)
c.4836G>T (p.Lys1612Asn)
c.3858G>T (p.Lys1286Asn)
c.3439G>T
c.3000G>T (p.Lys1000Asn)
c.*817G>T (n.*817G>T)
c.4153G>T
c.3729G>T (p.Lys1243Asn)
n.231-392C>A
c.4926G>T (p.Lys1642Asn)
c.4923G>T (p.Lys1641Asn)
c.4878G>T (p.Lys1626Asn)
c.4002G>T (p.Lys1334Asn)
c.3771G>T (p.Lys1257Asn)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
10g.94283879A>CCA377652525PLCE1,PLCE1-AS1c.3961A>C (p.Lys1321Gln)
c.*1428A>C (n.*1428A>C)
n.1620A>C
c.*169A>C (n.*169A>C)
c.3913A>C (p.Lys1305Gln)
n.9093A>C
n.2558A>C
c.4885A>C (p.Lys1629Gln)
c.4837A>C (p.Lys1613Gln)
c.3859A>C (p.Lys1287Gln)
c.3440A>C
c.3001A>C (p.Lys1001Gln)
c.*818A>C (n.*818A>C)
c.4154A>C
c.3730A>C (p.Lys1244Gln)
n.231-393T>G
c.4927A>C (p.Lys1643Gln)
c.4924A>C (p.Lys1642Gln)
c.4879A>C (p.Lys1627Gln)
c.4003A>C (p.Lys1335Gln)
c.3772A>C (p.Lys1258Gln)
 gnomAD v4
10g.94283879A>GCA377652526PLCE1,PLCE1-AS1c.3961A>G (p.Lys1321Glu)
c.*1428A>G (n.*1428A>G)
n.1620A>G
c.*169A>G (n.*169A>G)
c.3913A>G (p.Lys1305Glu)
n.9093A>G
n.2558A>G
c.4885A>G (p.Lys1629Glu)
c.4837A>G (p.Lys1613Glu)
c.3859A>G (p.Lys1287Glu)
c.3440A>G
c.3001A>G (p.Lys1001Glu)
c.*818A>G (n.*818A>G)
c.4154A>G
c.3730A>G (p.Lys1244Glu)
n.231-393T>C
c.4927A>G (p.Lys1643Glu)
c.4924A>G (p.Lys1642Glu)
c.4879A>G (p.Lys1627Glu)
c.4003A>G (p.Lys1335Glu)
c.3772A>G (p.Lys1258Glu)
10g.94283879A>TCA377652527PLCE1,PLCE1-AS1c.3961A>T (p.Lys1321Ter)
c.*1428A>T (n.*1428A>T)
n.1620A>T
c.*169A>T (n.*169A>T)
c.3913A>T (p.Lys1305Ter)
n.9093A>T
n.2558A>T
c.4885A>T (p.Lys1629Ter)
c.4837A>T (p.Lys1613Ter)
c.3859A>T (p.Lys1287Ter)
c.3440A>T
c.3001A>T (p.Lys1001Ter)
c.*818A>T (n.*818A>T)
c.4154A>T
c.3730A>T (p.Lys1244Ter)
n.231-393T>A
c.4927A>T (p.Lys1643Ter)
c.4924A>T (p.Lys1642Ter)
c.4879A>T (p.Lys1627Ter)
c.4003A>T (p.Lys1335Ter)
c.3772A>T (p.Lys1258Ter)
10g.94283881dupCA5613240PLCE1,PLCE1-AS1c.3963dup (p.Ala1322SerfsTer3)
c.*1430dup (n.*1430dup)
n.1622dup
c.*171dup (n.*171dup)
c.3915dup (p.Ala1306SerfsTer3)
n.9095dup
n.2560dup
c.4887dup (p.Ala1630SerfsTer3)
c.4839dup (p.Ala1614SerfsTer3)
c.3861dup (p.Ala1288SerfsTer3)
c.3442dup
c.3003dup (p.Ala1002SerfsTer3)
c.*820dup (n.*820dup)
c.4156dup
c.3732dup (p.Ala1245SerfsTer3)
n.231-393dup
c.4929dup (p.Ala1644SerfsTer3)
c.4926dup (p.Ala1643SerfsTer3)
c.4881dup (p.Ala1628SerfsTer3)
c.4005dup (p.Ala1336SerfsTer3)
c.3774dup (p.Ala1259SerfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94283881delCA2573145913PLCE1,PLCE1-AS1c.3963del (p.Ala1322GlnfsTer?)
c.*1430del (n.*1430del)
n.1622del
c.*171del (n.*171del)
c.3915del (p.Ala1306GlnfsTer?)
n.9095del
n.2560del
c.4887del (p.Ala1630GlnfsTer?)
c.4839del (p.Ala1614GlnfsTer?)
c.3861del (p.Ala1288GlnfsTer?)
c.3442del
c.3003del (p.Ala1002GlnfsTer?)
c.*820del (n.*820del)
c.4156del
c.3732del (p.Ala1245GlnfsTer?)
n.231-393del
c.4929del (p.Ala1644GlnfsTer?)
c.4926del (p.Ala1643GlnfsTer?)
c.4881del (p.Ala1628GlnfsTer?)
c.4005del (p.Ala1336GlnfsTer?)
c.3774del (p.Ala1259GlnfsTer?)
 ClinVar dbSNP
10g.94283880A>CCA377652528PLCE1,PLCE1-AS1c.3962A>C (p.Lys1321Thr)
c.*1429A>C (n.*1429A>C)
n.1621A>C
c.*170A>C (n.*170A>C)
c.3914A>C (p.Lys1305Thr)
n.9094A>C
n.2559A>C
c.4886A>C (p.Lys1629Thr)
c.4838A>C (p.Lys1613Thr)
c.3860A>C (p.Lys1287Thr)
c.3441A>C
c.3002A>C (p.Lys1001Thr)
c.*819A>C (n.*819A>C)
c.4155A>C
c.3731A>C (p.Lys1244Thr)
n.231-394T>G
c.4928A>C (p.Lys1643Thr)
c.4925A>C (p.Lys1642Thr)
c.4880A>C (p.Lys1627Thr)
c.4004A>C (p.Lys1335Thr)
c.3773A>C (p.Lys1258Thr)
10g.94283880A>GCA377652530PLCE1,PLCE1-AS1c.3962A>G (p.Lys1321Arg)
c.*1429A>G (n.*1429A>G)
n.1621A>G
c.*170A>G (n.*170A>G)
c.3914A>G (p.Lys1305Arg)
n.9094A>G
n.2559A>G
c.4886A>G (p.Lys1629Arg)
c.4838A>G (p.Lys1613Arg)
c.3860A>G (p.Lys1287Arg)
c.3441A>G
c.3002A>G (p.Lys1001Arg)
c.*819A>G (n.*819A>G)
c.4155A>G
c.3731A>G (p.Lys1244Arg)
n.231-394T>C
c.4928A>G (p.Lys1643Arg)
c.4925A>G (p.Lys1642Arg)
c.4880A>G (p.Lys1627Arg)
c.4004A>G (p.Lys1335Arg)
c.3773A>G (p.Lys1258Arg)
10g.94283880A>TCA377652529PLCE1,PLCE1-AS1c.3962A>T (p.Lys1321Ile)
c.*1429A>T (n.*1429A>T)
n.1621A>T
c.*170A>T (n.*170A>T)
c.3914A>T (p.Lys1305Ile)
n.9094A>T
n.2559A>T
c.4886A>T (p.Lys1629Ile)
c.4838A>T (p.Lys1613Ile)
c.3860A>T (p.Lys1287Ile)
c.3441A>T
c.3002A>T (p.Lys1001Ile)
c.*819A>T (n.*819A>T)
c.4155A>T
c.3731A>T (p.Lys1244Ile)
n.231-394T>A
c.4928A>T (p.Lys1643Ile)
c.4925A>T (p.Lys1642Ile)
c.4880A>T (p.Lys1627Ile)
c.4004A>T (p.Lys1335Ile)
c.3773A>T (p.Lys1258Ile)
10g.94283881A=CA1928990368PLCE1,PLCE1-AS1c.3963A= (p.Lys1321=)
c.*1430A= (n.*1430A=)
n.1622A=
c.*171A= (n.*171A=)
c.3915A= (p.Lys1305=)
n.9095A=
n.2560A=
c.4887A= (p.Lys1629=)
c.4839A= (p.Lys1613=)
c.3861A= (p.Lys1287=)
c.3442A=
c.3003A= (p.Lys1001=)
c.*820A= (n.*820A=)
c.4156A=
c.3732A= (p.Lys1244=)
n.231-395T=
c.4929A= (p.Lys1643=)
c.4926A= (p.Lys1642=)
c.4881A= (p.Lys1627=)
c.4005A= (p.Lys1335=)
c.3774A= (p.Lys1258=)
10g.94283881A>CCA377652531PLCE1,PLCE1-AS1c.3963A>C (p.Lys1321Asn)
c.*1430A>C (n.*1430A>C)
n.1622A>C
c.*171A>C (n.*171A>C)
c.3915A>C (p.Lys1305Asn)
n.9095A>C
n.2560A>C
c.4887A>C (p.Lys1629Asn)
c.4839A>C (p.Lys1613Asn)
c.3861A>C (p.Lys1287Asn)
c.3442A>C
c.3003A>C (p.Lys1001Asn)
c.*820A>C (n.*820A>C)
c.4156A>C
c.3732A>C (p.Lys1244Asn)
n.231-395T>G
c.4929A>C (p.Lys1643Asn)
c.4926A>C (p.Lys1642Asn)
c.4881A>C (p.Lys1627Asn)
c.4005A>C (p.Lys1335Asn)
c.3774A>C (p.Lys1258Asn)
10g.94283881A>GCA470818862PLCE1,PLCE1-AS1c.3963A>G (p.Lys1321=)
c.*1430A>G (n.*1430A>G)
n.1622A>G
c.*171A>G (n.*171A>G)
c.3915A>G (p.Lys1305=)
n.9095A>G
n.2560A>G
c.4887A>G (p.Lys1629=)
c.4839A>G (p.Lys1613=)
c.3861A>G (p.Lys1287=)
c.3442A>G
c.3003A>G (p.Lys1001=)
c.*820A>G (n.*820A>G)
c.4156A>G
c.3732A>G (p.Lys1244=)
n.231-395T>C
c.4929A>G (p.Lys1643=)
c.4926A>G (p.Lys1642=)
c.4881A>G (p.Lys1627=)
c.4005A>G (p.Lys1335=)
c.3774A>G (p.Lys1258=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94283881A>TCA377652532PLCE1,PLCE1-AS1c.3963A>T (p.Lys1321Asn)
c.*1430A>T (n.*1430A>T)
n.1622A>T
c.*171A>T (n.*171A>T)
c.3915A>T (p.Lys1305Asn)
n.9095A>T
n.2560A>T
c.4887A>T (p.Lys1629Asn)
c.4839A>T (p.Lys1613Asn)
c.3861A>T (p.Lys1287Asn)
c.3442A>T
c.3003A>T (p.Lys1001Asn)
c.*820A>T (n.*820A>T)
c.4156A>T
c.3732A>T (p.Lys1244Asn)
n.231-395T>A
c.4929A>T (p.Lys1643Asn)
c.4926A>T (p.Lys1642Asn)
c.4881A>T (p.Lys1627Asn)
c.4005A>T (p.Lys1335Asn)
c.3774A>T (p.Lys1258Asn)
10g.94283882G>ACA5613241PLCE1,PLCE1-AS1c.3964G>A (p.Ala1322Thr)
c.*1431G>A (n.*1431G>A)
n.1623G>A
c.*172G>A (n.*172G>A)
c.3916G>A (p.Ala1306Thr)
n.9096G>A
n.2561G>A
c.4888G>A (p.Ala1630Thr)
c.4840G>A (p.Ala1614Thr)
c.3862G>A (p.Ala1288Thr)
c.3443G>A
c.3004G>A (p.Ala1002Thr)
c.*821G>A (n.*821G>A)
c.4157G>A
c.3733G>A (p.Ala1245Thr)
n.231-396C>T
c.4930G>A (p.Ala1644Thr)
c.4927G>A (p.Ala1643Thr)
c.4882G>A (p.Ala1628Thr)
c.4006G>A (p.Ala1336Thr)
c.3775G>A (p.Ala1259Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283882G>CCA377652533PLCE1,PLCE1-AS1c.3964G>C (p.Ala1322Pro)
c.*1431G>C (n.*1431G>C)
n.1623G>C
c.*172G>C (n.*172G>C)
c.3916G>C (p.Ala1306Pro)
n.9096G>C
n.2561G>C
c.4888G>C (p.Ala1630Pro)
c.4840G>C (p.Ala1614Pro)
c.3862G>C (p.Ala1288Pro)
c.3443G>C
c.3004G>C (p.Ala1002Pro)
c.*821G>C (n.*821G>C)
c.4157G>C
c.3733G>C (p.Ala1245Pro)
n.231-396C>G
c.4930G>C (p.Ala1644Pro)
c.4927G>C (p.Ala1643Pro)
c.4882G>C (p.Ala1628Pro)
c.4006G>C (p.Ala1336Pro)
c.3775G>C (p.Ala1259Pro)
10g.94283882G=CA1928990373PLCE1,PLCE1-AS1c.3964G= (p.Ala1322=)
c.*1431G= (n.*1431G=)
n.1623G=
c.*172G= (n.*172G=)
c.3916G= (p.Ala1306=)
n.9096G=
n.2561G=
c.4888G= (p.Ala1630=)
c.4840G= (p.Ala1614=)
c.3862G= (p.Ala1288=)
c.3443G=
c.3004G= (p.Ala1002=)
c.*821G= (n.*821G=)
c.4157G=
c.3733G= (p.Ala1245=)
n.231-396C=
c.4930G= (p.Ala1644=)
c.4927G= (p.Ala1643=)
c.4882G= (p.Ala1628=)
c.4006G= (p.Ala1336=)
c.3775G= (p.Ala1259=)
10g.94283882G>TCA377652534PLCE1,PLCE1-AS1c.3964G>T (p.Ala1322Ser)
c.*1431G>T (n.*1431G>T)
n.1623G>T
c.*172G>T (n.*172G>T)
c.3916G>T (p.Ala1306Ser)
n.9096G>T
n.2561G>T
c.4888G>T (p.Ala1630Ser)
c.4840G>T (p.Ala1614Ser)
c.3862G>T (p.Ala1288Ser)
c.3443G>T
c.3004G>T (p.Ala1002Ser)
c.*821G>T (n.*821G>T)
c.4157G>T
c.3733G>T (p.Ala1245Ser)
n.231-396C>A
c.4930G>T (p.Ala1644Ser)
c.4927G>T (p.Ala1643Ser)
c.4882G>T (p.Ala1628Ser)
c.4006G>T (p.Ala1336Ser)
c.3775G>T (p.Ala1259Ser)
10g.94283883C>ACA5613242PLCE1,PLCE1-AS1c.3965C>A (p.Ala1322Glu)
c.*1432C>A (n.*1432C>A)
n.1624C>A
c.*173C>A (n.*173C>A)
c.3917C>A (p.Ala1306Glu)
n.9097C>A
n.2562C>A
c.4889C>A (p.Ala1630Glu)
c.4841C>A (p.Ala1614Glu)
c.3863C>A (p.Ala1288Glu)
c.3444C>A
c.3005C>A (p.Ala1002Glu)
c.*822C>A (n.*822C>A)
c.4158C>A
c.3734C>A (p.Ala1245Glu)
n.231-397G>T
c.4931C>A (p.Ala1644Glu)
c.4928C>A (p.Ala1643Glu)
c.4883C>A (p.Ala1628Glu)
c.4007C>A (p.Ala1336Glu)
c.3776C>A (p.Ala1259Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94283883C=CA1928990379PLCE1,PLCE1-AS1c.3965C= (p.Ala1322=)
c.*1432C= (n.*1432C=)
n.1624C=
c.*173C= (n.*173C=)
c.3917C= (p.Ala1306=)
n.9097C=
n.2562C=
c.4889C= (p.Ala1630=)
c.4841C= (p.Ala1614=)
c.3863C= (p.Ala1288=)
c.3444C=
c.3005C= (p.Ala1002=)
c.*822C= (n.*822C=)
c.4158C=
c.3734C= (p.Ala1245=)
n.231-397G=
c.4931C= (p.Ala1644=)
c.4928C= (p.Ala1643=)
c.4883C= (p.Ala1628=)
c.4007C= (p.Ala1336=)
c.3776C= (p.Ala1259=)
10g.94283883C>GCA377652536PLCE1,PLCE1-AS1c.3965C>G (p.Ala1322Gly)
c.*1432C>G (n.*1432C>G)
n.1624C>G
c.*173C>G (n.*173C>G)
c.3917C>G (p.Ala1306Gly)
n.9097C>G
n.2562C>G
c.4889C>G (p.Ala1630Gly)
c.4841C>G (p.Ala1614Gly)
c.3863C>G (p.Ala1288Gly)
c.3444C>G
c.3005C>G (p.Ala1002Gly)
c.*822C>G (n.*822C>G)
c.4158C>G
c.3734C>G (p.Ala1245Gly)
n.231-397G>C
c.4931C>G (p.Ala1644Gly)
c.4928C>G (p.Ala1643Gly)
c.4883C>G (p.Ala1628Gly)
c.4007C>G (p.Ala1336Gly)
c.3776C>G (p.Ala1259Gly)
10g.94283883C>TCA377652535PLCE1,PLCE1-AS1c.3965C>T (p.Ala1322Val)
c.*1432C>T (n.*1432C>T)
n.1624C>T
c.*173C>T (n.*173C>T)
c.3917C>T (p.Ala1306Val)
n.9097C>T
n.2562C>T
c.4889C>T (p.Ala1630Val)
c.4841C>T (p.Ala1614Val)
c.3863C>T (p.Ala1288Val)
c.3444C>T
c.3005C>T (p.Ala1002Val)
c.*822C>T (n.*822C>T)
c.4158C>T
c.3734C>T (p.Ala1245Val)
n.231-397G>A
c.4931C>T (p.Ala1644Val)
c.4928C>T (p.Ala1643Val)
c.4883C>T (p.Ala1628Val)
c.4007C>T (p.Ala1336Val)
c.3776C>T (p.Ala1259Val)
10g.94283884A=CA1928990385PLCE1,PLCE1-AS1c.3966A= (p.Ala1322=)
c.*1433A= (n.*1433A=)
n.1625A=
c.*174A= (n.*174A=)
c.3918A= (p.Ala1306=)
n.9098A=
n.2563A=
c.4890A= (p.Ala1630=)
c.4842A= (p.Ala1614=)
c.3864A= (p.Ala1288=)
c.3445A=
c.3006A= (p.Ala1002=)
c.*823A= (n.*823A=)
c.4159A=
c.3735A= (p.Ala1245=)
n.231-398T=
c.4932A= (p.Ala1644=)
c.4929A= (p.Ala1643=)
c.4884A= (p.Ala1628=)
c.4008A= (p.Ala1336=)
c.3777A= (p.Ala1259=)
10g.94283884A>CCA470818863PLCE1,PLCE1-AS1c.3966A>C (p.Ala1322=)
c.*1433A>C (n.*1433A>C)
n.1625A>C
c.*174A>C (n.*174A>C)
c.3918A>C (p.Ala1306=)
n.9098A>C
n.2563A>C
c.4890A>C (p.Ala1630=)
c.4842A>C (p.Ala1614=)
c.3864A>C (p.Ala1288=)
c.3445A>C
c.3006A>C (p.Ala1002=)
c.*823A>C (n.*823A>C)
c.4159A>C
c.3735A>C (p.Ala1245=)
n.231-398T>G
c.4932A>C (p.Ala1644=)
c.4929A>C (p.Ala1643=)
c.4884A>C (p.Ala1628=)
c.4008A>C (p.Ala1336=)
c.3777A>C (p.Ala1259=)
10g.94283884A>GCA5613243PLCE1,PLCE1-AS1c.3966A>G (p.Ala1322=)
c.*1433A>G (n.*1433A>G)
n.1625A>G
c.*174A>G (n.*174A>G)
c.3918A>G (p.Ala1306=)
n.9098A>G
n.2563A>G
c.4890A>G (p.Ala1630=)
c.4842A>G (p.Ala1614=)
c.3864A>G (p.Ala1288=)
c.3445A>G
c.3006A>G (p.Ala1002=)
c.*823A>G (n.*823A>G)
c.4159A>G
c.3735A>G (p.Ala1245=)
n.231-398T>C
c.4932A>G (p.Ala1644=)
c.4929A>G (p.Ala1643=)
c.4884A>G (p.Ala1628=)
c.4008A>G (p.Ala1336=)
c.3777A>G (p.Ala1259=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283884A>TCA470818864PLCE1,PLCE1-AS1c.3966A>T (p.Ala1322=)
c.*1433A>T (n.*1433A>T)
n.1625A>T
c.*174A>T (n.*174A>T)
c.3918A>T (p.Ala1306=)
n.9098A>T
n.2563A>T
c.4890A>T (p.Ala1630=)
c.4842A>T (p.Ala1614=)
c.3864A>T (p.Ala1288=)
c.3445A>T
c.3006A>T (p.Ala1002=)
c.*823A>T (n.*823A>T)
c.4159A>T
c.3735A>T (p.Ala1245=)
n.231-398T>A
c.4932A>T (p.Ala1644=)
c.4929A>T (p.Ala1643=)
c.4884A>T (p.Ala1628=)
c.4008A>T (p.Ala1336=)
c.3777A>T (p.Ala1259=)
 COSMIC COSMIC COSMIC COSMIC
10g.94283885G>ACA377652537PLCE1,PLCE1-AS1c.3967G>A (p.Asp1323Asn)
c.*1434G>A (n.*1434G>A)
n.1626G>A
c.*175G>A (n.*175G>A)
c.3919G>A (p.Asp1307Asn)
n.9099G>A
n.2564G>A
c.4891G>A (p.Asp1631Asn)
c.4843G>A (p.Asp1615Asn)
c.3865G>A (p.Asp1289Asn)
c.3446G>A
c.3007G>A (p.Asp1003Asn)
c.*824G>A (n.*824G>A)
c.4160G>A
c.3736G>A (p.Asp1246Asn)
n.231-399C>T
c.4933G>A (p.Asp1645Asn)
c.4930G>A (p.Asp1644Asn)
c.4885G>A (p.Asp1629Asn)
c.4009G>A (p.Asp1337Asn)
c.3778G>A (p.Asp1260Asn)
10g.94283885G>CCA377652539PLCE1,PLCE1-AS1c.3967G>C (p.Asp1323His)
c.*1434G>C (n.*1434G>C)
n.1626G>C
c.*175G>C (n.*175G>C)
c.3919G>C (p.Asp1307His)
n.9099G>C
n.2564G>C
c.4891G>C (p.Asp1631His)
c.4843G>C (p.Asp1615His)
c.3865G>C (p.Asp1289His)
c.3446G>C
c.3007G>C (p.Asp1003His)
c.*824G>C (n.*824G>C)
c.4160G>C
c.3736G>C (p.Asp1246His)
n.231-399C>G
c.4933G>C (p.Asp1645His)
c.4930G>C (p.Asp1644His)
c.4885G>C (p.Asp1629His)
c.4009G>C (p.Asp1337His)
c.3778G>C (p.Asp1260His)
 COSMIC COSMIC COSMIC COSMIC
10g.94283885G>TCA377652538PLCE1,PLCE1-AS1c.3967G>T (p.Asp1323Tyr)
c.*1434G>T (n.*1434G>T)
n.1626G>T
c.*175G>T (n.*175G>T)
c.3919G>T (p.Asp1307Tyr)
n.9099G>T
n.2564G>T
c.4891G>T (p.Asp1631Tyr)
c.4843G>T (p.Asp1615Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3446G>T
c.3007G>T (p.Asp1003Tyr)
c.*824G>T (n.*824G>T)
c.4160G>T
c.3736G>T (p.Asp1246Tyr)
n.231-399C>A
c.4933G>T (p.Asp1645Tyr)
c.4930G>T (p.Asp1644Tyr)
c.4885G>T (p.Asp1629Tyr)
c.4009G>T (p.Asp1337Tyr)
c.3778G>T (p.Asp1260Tyr)
10g.94283886A=CA1928990386PLCE1,PLCE1-AS1c.3968A= (p.Asp1323=)
c.*1435A= (n.*1435A=)
n.1627A=
c.*176A= (n.*176A=)
c.3920A= (p.Asp1307=)
n.9100A=
n.2565A=
c.4892A= (p.Asp1631=)
c.4844A= (p.Asp1615=)
c.3866A= (p.Asp1289=)
c.3447A=
c.3008A= (p.Asp1003=)
c.*825A= (n.*825A=)
c.4161A=
c.3737A= (p.Asp1246=)
n.231-400T=
c.4934A= (p.Asp1645=)
c.4931A= (p.Asp1644=)
c.4886A= (p.Asp1629=)
c.4010A= (p.Asp1337=)
c.3779A= (p.Asp1260=)
10g.94283886A>CCA377652540PLCE1,PLCE1-AS1c.3968A>C (p.Asp1323Ala)
c.*1435A>C (n.*1435A>C)
n.1627A>C
c.*176A>C (n.*176A>C)
c.3920A>C (p.Asp1307Ala)
n.9100A>C
n.2565A>C
c.4892A>C (p.Asp1631Ala)
c.4844A>C (p.Asp1615Ala)
c.3866A>C (p.Asp1289Ala)
c.3447A>C
c.3008A>C (p.Asp1003Ala)
c.*825A>C (n.*825A>C)
c.4161A>C
c.3737A>C (p.Asp1246Ala)
n.231-400T>G
c.4934A>C (p.Asp1645Ala)
c.4931A>C (p.Asp1644Ala)
c.4886A>C (p.Asp1629Ala)
c.4010A>C (p.Asp1337Ala)
c.3779A>C (p.Asp1260Ala)
10g.94283886A>GCA377652541PLCE1,PLCE1-AS1c.3968A>G (p.Asp1323Gly)
c.*1435A>G (n.*1435A>G)
n.1627A>G
c.*176A>G (n.*176A>G)
c.3920A>G (p.Asp1307Gly)
n.9100A>G
n.2565A>G
c.4892A>G (p.Asp1631Gly)
c.4844A>G (p.Asp1615Gly)
c.3866A>G (p.Asp1289Gly)
c.3447A>G
c.3008A>G (p.Asp1003Gly)
c.*825A>G (n.*825A>G)
c.4161A>G
c.3737A>G (p.Asp1246Gly)
n.231-400T>C
c.4934A>G (p.Asp1645Gly)
c.4931A>G (p.Asp1644Gly)
c.4886A>G (p.Asp1629Gly)
c.4010A>G (p.Asp1337Gly)
c.3779A>G (p.Asp1260Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.94283886A>TCA377652542PLCE1,PLCE1-AS1c.3968A>T (p.Asp1323Val)
c.*1435A>T (n.*1435A>T)
n.1627A>T
c.*176A>T (n.*176A>T)
c.3920A>T (p.Asp1307Val)
n.9100A>T
n.2565A>T
c.4892A>T (p.Asp1631Val)
c.4844A>T (p.Asp1615Val)
c.3866A>T (p.Asp1289Val)
c.3447A>T
c.3008A>T (p.Asp1003Val)
c.*825A>T (n.*825A>T)
c.4161A>T
c.3737A>T (p.Asp1246Val)
n.231-400T>A
c.4934A>T (p.Asp1645Val)
c.4931A>T (p.Asp1644Val)
c.4886A>T (p.Asp1629Val)
c.4010A>T (p.Asp1337Val)
c.3779A>T (p.Asp1260Val)
10g.94283887T>ACA377652543PLCE1,PLCE1-AS1c.3969T>A (p.Asp1323Glu)
c.*1436T>A (n.*1436T>A)
n.1628T>A
c.*177T>A (n.*177T>A)
c.3921T>A (p.Asp1307Glu)
n.9101T>A
n.2566T>A
c.4893T>A (p.Asp1631Glu)
c.4845T>A (p.Asp1615Glu)
c.3867T>A (p.Asp1289Glu)
c.3448T>A
c.3009T>A (p.Asp1003Glu)
c.*826T>A (n.*826T>A)
c.4162T>A
c.3738T>A (p.Asp1246Glu)
n.231-401A>T
c.4935T>A (p.Asp1645Glu)
c.4932T>A (p.Asp1644Glu)
c.4887T>A (p.Asp1629Glu)
c.4011T>A (p.Asp1337Glu)
c.3780T>A (p.Asp1260Glu)
10g.94283887T>CCA470818865PLCE1,PLCE1-AS1c.3969T>C (p.Asp1323=)
c.*1436T>C (n.*1436T>C)
n.1628T>C
c.*177T>C (n.*177T>C)
c.3921T>C (p.Asp1307=)
n.9101T>C
n.2566T>C
c.4893T>C (p.Asp1631=)
c.4845T>C (p.Asp1615=)
c.3867T>C (p.Asp1289=)
c.3448T>C
c.3009T>C (p.Asp1003=)
c.*826T>C (n.*826T>C)
c.4162T>C
c.3738T>C (p.Asp1246=)
n.231-401A>G
c.4935T>C (p.Asp1645=)
c.4932T>C (p.Asp1644=)
c.4887T>C (p.Asp1629=)
c.4011T>C (p.Asp1337=)
c.3780T>C (p.Asp1260=)
 gnomAD v4
10g.94283887T>GCA377652544PLCE1,PLCE1-AS1c.3969T>G (p.Asp1323Glu)
c.*1436T>G (n.*1436T>G)
n.1628T>G
c.*177T>G (n.*177T>G)
c.3921T>G (p.Asp1307Glu)
n.9101T>G
n.2566T>G
c.4893T>G (p.Asp1631Glu)
c.4845T>G (p.Asp1615Glu)
c.3867T>G (p.Asp1289Glu)
c.3448T>G
c.3009T>G (p.Asp1003Glu)
c.*826T>G (n.*826T>G)
c.4162T>G
c.3738T>G (p.Asp1246Glu)
n.231-401A>C
c.4935T>G (p.Asp1645Glu)
c.4932T>G (p.Asp1644Glu)
c.4887T>G (p.Asp1629Glu)
c.4011T>G (p.Asp1337Glu)
c.3780T>G (p.Asp1260Glu)
10g.94283888A>CCA377652545PLCE1,PLCE1-AS1c.3970A>C (p.Asn1324His)
c.*1437A>C (n.*1437A>C)
n.1629A>C
c.*178A>C (n.*178A>C)
c.3922A>C (p.Asn1308His)
n.9102A>C
n.2567A>C
c.4894A>C (p.Asn1632His)
c.4846A>C (p.Asn1616His)
c.3868A>C (p.Asn1290His)
c.3449A>C
c.3010A>C (p.Asn1004His)
c.*827A>C (n.*827A>C)
c.4163A>C
c.3739A>C (p.Asn1247His)
n.231-402T>G
c.4936A>C (p.Asn1646His)
c.4933A>C (p.Asn1645His)
c.4888A>C (p.Asn1630His)
c.4012A>C (p.Asn1338His)
c.3781A>C (p.Asn1261His)
10g.94283888A>GCA377652546PLCE1,PLCE1-AS1c.3970A>G (p.Asn1324Asp)
c.*1437A>G (n.*1437A>G)
n.1629A>G
c.*178A>G (n.*178A>G)
c.3922A>G (p.Asn1308Asp)
n.9102A>G
n.2567A>G
c.4894A>G (p.Asn1632Asp)
c.4846A>G (p.Asn1616Asp)
c.3868A>G (p.Asn1290Asp)
c.3449A>G
c.3010A>G (p.Asn1004Asp)
c.*827A>G (n.*827A>G)
c.4163A>G
c.3739A>G (p.Asn1247Asp)
n.231-402T>C
c.4936A>G (p.Asn1646Asp)
c.4933A>G (p.Asn1645Asp)
c.4888A>G (p.Asn1630Asp)
c.4012A>G (p.Asn1338Asp)
c.3781A>G (p.Asn1261Asp)
10g.94283888A>TCA377652547PLCE1,PLCE1-AS1c.3970A>T (p.Asn1324Tyr)
c.*1437A>T (n.*1437A>T)
n.1629A>T
c.*178A>T (n.*178A>T)
c.3922A>T (p.Asn1308Tyr)
n.9102A>T
n.2567A>T
c.4894A>T (p.Asn1632Tyr)
c.4846A>T (p.Asn1616Tyr)
c.3868A>T (p.Asn1290Tyr)
c.3449A>T
c.3010A>T (p.Asn1004Tyr)
c.*827A>T (n.*827A>T)
c.4163A>T
c.3739A>T (p.Asn1247Tyr)
n.231-402T>A
c.4936A>T (p.Asn1646Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4888A>T (p.Asn1630Tyr)
c.4012A>T (p.Asn1338Tyr)
c.3781A>T (p.Asn1261Tyr)
10g.94283889A>CCA377652548PLCE1,PLCE1-AS1c.3971A>C (p.Asn1324Thr)
c.*1438A>C (n.*1438A>C)
n.1630A>C
c.*179A>C (n.*179A>C)
c.3923A>C (p.Asn1308Thr)
n.9103A>C
n.2568A>C
c.4895A>C (p.Asn1632Thr)
c.4847A>C (p.Asn1616Thr)
c.3869A>C (p.Asn1290Thr)
c.3450A>C
c.3011A>C (p.Asn1004Thr)
c.*828A>C (n.*828A>C)
c.4164A>C
c.3740A>C (p.Asn1247Thr)
n.231-403T>G
c.4937A>C (p.Asn1646Thr)
c.4934A>C (p.Asn1645Thr)
c.4889A>C (p.Asn1630Thr)
c.4013A>C (p.Asn1338Thr)
c.3782A>C (p.Asn1261Thr)
10g.94283889A>GCA377652549PLCE1,PLCE1-AS1c.3971A>G (p.Asn1324Ser)
c.*1438A>G (n.*1438A>G)
n.1630A>G
c.*179A>G (n.*179A>G)
c.3923A>G (p.Asn1308Ser)
n.9103A>G
n.2568A>G
c.4895A>G (p.Asn1632Ser)
c.4847A>G (p.Asn1616Ser)
c.3869A>G (p.Asn1290Ser)
c.3450A>G
c.3011A>G (p.Asn1004Ser)
c.*828A>G (n.*828A>G)
c.4164A>G
c.3740A>G (p.Asn1247Ser)
n.231-403T>C
c.4937A>G (p.Asn1646Ser)
c.4934A>G (p.Asn1645Ser)
c.4889A>G (p.Asn1630Ser)
c.4013A>G (p.Asn1338Ser)
c.3782A>G (p.Asn1261Ser)
 gnomAD v4
10g.94283889A>TCA377652550PLCE1,PLCE1-AS1c.3971A>T (p.Asn1324Ile)
c.*1438A>T (n.*1438A>T)
n.1630A>T
c.*179A>T (n.*179A>T)
c.3923A>T (p.Asn1308Ile)
n.9103A>T
n.2568A>T
c.4895A>T (p.Asn1632Ile)
c.4847A>T (p.Asn1616Ile)
c.3869A>T (p.Asn1290Ile)
c.3450A>T
c.3011A>T (p.Asn1004Ile)
c.*828A>T (n.*828A>T)
c.4164A>T
c.3740A>T (p.Asn1247Ile)
n.231-403T>A
c.4937A>T (p.Asn1646Ile)
c.4934A>T (p.Asn1645Ile)
c.4889A>T (p.Asn1630Ile)
c.4013A>T (p.Asn1338Ile)
c.3782A>T (p.Asn1261Ile)
10g.94283890C>ACA377652551PLCE1,PLCE1-AS1c.3972C>A (p.Asn1324Lys)
c.*1439C>A (n.*1439C>A)
n.1631C>A
c.*180C>A (n.*180C>A)
c.3924C>A (p.Asn1308Lys)
n.9104C>A
n.2569C>A
c.4896C>A (p.Asn1632Lys)
c.4848C>A (p.Asn1616Lys)
c.3870C>A (p.Asn1290Lys)
c.3451C>A
c.3012C>A (p.Asn1004Lys)
c.*829C>A (n.*829C>A)
c.4165C>A
c.3741C>A (p.Asn1247Lys)
n.231-404G>T
c.4938C>A (p.Asn1646Lys)
c.4935C>A (p.Asn1645Lys)
c.4890C>A (p.Asn1630Lys)
c.4014C>A (p.Asn1338Lys)
c.3783C>A (p.Asn1261Lys)
10g.94283890C>GCA377652552PLCE1,PLCE1-AS1c.3972C>G (p.Asn1324Lys)
c.*1439C>G (n.*1439C>G)
n.1631C>G
c.*180C>G (n.*180C>G)
c.3924C>G (p.Asn1308Lys)
n.9104C>G
n.2569C>G
c.4896C>G (p.Asn1632Lys)
c.4848C>G (p.Asn1616Lys)
c.3870C>G (p.Asn1290Lys)
c.3451C>G
c.3012C>G (p.Asn1004Lys)
c.*829C>G (n.*829C>G)
c.4165C>G
c.3741C>G (p.Asn1247Lys)
n.231-404G>C
c.4938C>G (p.Asn1646Lys)
c.4935C>G (p.Asn1645Lys)
c.4890C>G (p.Asn1630Lys)
c.4014C>G (p.Asn1338Lys)
c.3783C>G (p.Asn1261Lys)
10g.94283890C>TCA470818866PLCE1,PLCE1-AS1c.3972C>T (p.Asn1324=)
c.*1439C>T (n.*1439C>T)
n.1631C>T
c.*180C>T (n.*180C>T)
c.3924C>T (p.Asn1308=)
n.9104C>T
n.2569C>T
c.4896C>T (p.Asn1632=)
c.4848C>T (p.Asn1616=)
c.3870C>T (p.Asn1290=)
c.3451C>T
c.3012C>T (p.Asn1004=)
c.*829C>T (n.*829C>T)
c.4165C>T
c.3741C>T (p.Asn1247=)
n.231-404G>A
c.4938C>T (p.Asn1646=)
c.4935C>T (p.Asn1645=)
c.4890C>T (p.Asn1630=)
c.4014C>T (p.Asn1338=)
c.3783C>T (p.Asn1261=)
 gnomAD v4
10g.94283892_94283893delCA2573332768PLCE1,PLCE1-AS1c.3974_3975del (p.Ser1325CysfsTer9)
c.*1441_*1442del (n.*1441_*1442del)
n.1633_1634del
c.*182_*183del (n.*182_*183del)
c.3926_3927del (p.Ser1309CysfsTer9)
n.9106_9107del
n.2571_2572del
c.4898_4899del (p.Ser1633CysfsTer9)
c.4850_4851del (p.Ser1617CysfsTer9)
c.3872_3873del (p.Ser1291CysfsTer9)
c.3453_3454del
c.3014_3015del (p.Ser1005CysfsTer9)
c.*831_*832del (n.*831_*832del)
c.4167_4168del
c.3743_3744del (p.Ser1248CysfsTer9)
n.231-405_231-404del
c.4940_4941del (p.Ser1647CysfsTer9)
c.4937_4938del (p.Ser1646CysfsTer9)
c.4892_4893del (p.Ser1631CysfsTer9)
c.4016_4017del (p.Ser1339CysfsTer9)
c.3785_3786del (p.Ser1262CysfsTer9)
 gnomAD v4
10g.94283891T>ACA377652553PLCE1,PLCE1-AS1c.3973T>A (p.Ser1325Thr)
c.*1440T>A (n.*1440T>A)
n.1632T>A
c.*181T>A (n.*181T>A)
c.3925T>A (p.Ser1309Thr)
n.9105T>A
n.2570T>A
c.4897T>A (p.Ser1633Thr)
c.4849T>A (p.Ser1617Thr)
c.3871T>A (p.Ser1291Thr)
c.3452T>A
c.3013T>A (p.Ser1005Thr)
c.*830T>A (n.*830T>A)
c.4166T>A
c.3742T>A (p.Ser1248Thr)
n.231-405A>T
c.4939T>A (p.Ser1647Thr)
c.4936T>A (p.Ser1646Thr)
c.4891T>A (p.Ser1631Thr)
c.4015T>A (p.Ser1339Thr)
c.3784T>A (p.Ser1262Thr)
10g.94283891T>CCA377652555PLCE1,PLCE1-AS1c.3973T>C (p.Ser1325Pro)
c.*1440T>C (n.*1440T>C)
n.1632T>C
c.*181T>C (n.*181T>C)
c.3925T>C (p.Ser1309Pro)
n.9105T>C
n.2570T>C
c.4897T>C (p.Ser1633Pro)
c.4849T>C (p.Ser1617Pro)
c.3871T>C (p.Ser1291Pro)
c.3452T>C
c.3013T>C (p.Ser1005Pro)
c.*830T>C (n.*830T>C)
c.4166T>C
c.3742T>C (p.Ser1248Pro)
n.231-405A>G
c.4939T>C (p.Ser1647Pro)
c.4936T>C (p.Ser1646Pro)
c.4891T>C (p.Ser1631Pro)
c.4015T>C (p.Ser1339Pro)
c.3784T>C (p.Ser1262Pro)
 dbSNP gnomAD v2
10g.94283891T>GCA377652554PLCE1,PLCE1-AS1c.3973T>G (p.Ser1325Ala)
c.*1440T>G (n.*1440T>G)
n.1632T>G
c.*181T>G (n.*181T>G)
c.3925T>G (p.Ser1309Ala)
n.9105T>G
n.2570T>G
c.4897T>G (p.Ser1633Ala)
c.4849T>G (p.Ser1617Ala)
c.3871T>G (p.Ser1291Ala)
c.3452T>G
c.3013T>G (p.Ser1005Ala)
c.*830T>G (n.*830T>G)
c.4166T>G
c.3742T>G (p.Ser1248Ala)
n.231-405A>C
c.4939T>G (p.Ser1647Ala)
c.4936T>G (p.Ser1646Ala)
c.4891T>G (p.Ser1631Ala)
c.4015T>G (p.Ser1339Ala)
c.3784T>G (p.Ser1262Ala)
10g.94283891T=CA1928990389PLCE1,PLCE1-AS1c.3973T= (p.Ser1325=)
c.*1440T= (n.*1440T=)
n.1632T=
c.*181T= (n.*181T=)
c.3925T= (p.Ser1309=)
n.9105T=
n.2570T=
c.4897T= (p.Ser1633=)
c.4849T= (p.Ser1617=)
c.3871T= (p.Ser1291=)
c.3452T=
c.3013T= (p.Ser1005=)
c.*830T= (n.*830T=)
c.4166T=
c.3742T= (p.Ser1248=)
n.231-405A=
c.4939T= (p.Ser1647=)
c.4936T= (p.Ser1646=)
c.4891T= (p.Ser1631=)
c.4015T= (p.Ser1339=)
c.3784T= (p.Ser1262=)
10g.94283892C>ACA377652556PLCE1,PLCE1-AS1c.3974C>A (p.Ser1325Tyr)
c.*1441C>A (n.*1441C>A)
n.1633C>A
c.*182C>A (n.*182C>A)
c.3926C>A (p.Ser1309Tyr)
n.9106C>A
n.2571C>A
c.4898C>A (p.Ser1633Tyr)
c.4850C>A (p.Ser1617Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3453C>A
c.3014C>A (p.Ser1005Tyr)
c.*831C>A (n.*831C>A)
c.4167C>A
c.3743C>A (p.Ser1248Tyr)
n.231-406G>T
c.4940C>A (p.Ser1647Tyr)
c.4937C>A (p.Ser1646Tyr)
c.4892C>A (p.Ser1631Tyr)
c.4016C>A (p.Ser1339Tyr)
c.3785C>A (p.Ser1262Tyr)
 gnomAD v4
10g.94283892C>GCA377652557PLCE1,PLCE1-AS1c.3974C>G (p.Ser1325Cys)
c.*1441C>G (n.*1441C>G)
n.1633C>G
c.*182C>G (n.*182C>G)
c.3926C>G (p.Ser1309Cys)
n.9106C>G
n.2571C>G
c.4898C>G (p.Ser1633Cys)
c.4850C>G (p.Ser1617Cys)
c.3872C>G (p.Ser1291Cys)
c.3453C>G
c.3014C>G (p.Ser1005Cys)
c.*831C>G (n.*831C>G)
c.4167C>G
c.3743C>G (p.Ser1248Cys)
n.231-406G>C
c.4940C>G (p.Ser1647Cys)
c.4937C>G (p.Ser1646Cys)
c.4892C>G (p.Ser1631Cys)
c.4016C>G (p.Ser1339Cys)
c.3785C>G (p.Ser1262Cys)
10g.94283892C>TCA377652558PLCE1,PLCE1-AS1c.3974C>T (p.Ser1325Phe)
c.*1441C>T (n.*1441C>T)
n.1633C>T
c.*182C>T (n.*182C>T)
c.3926C>T (p.Ser1309Phe)
n.9106C>T
n.2571C>T
c.4898C>T (p.Ser1633Phe)
c.4850C>T (p.Ser1617Phe)
c.3872C>T (p.Ser1291Phe)
c.3453C>T
c.3014C>T (p.Ser1005Phe)
c.*831C>T (n.*831C>T)
c.4167C>T
c.3743C>T (p.Ser1248Phe)
n.231-406G>A
c.4940C>T (p.Ser1647Phe)
c.4937C>T (p.Ser1646Phe)
c.4892C>T (p.Ser1631Phe)
c.4016C>T (p.Ser1339Phe)
c.3785C>T (p.Ser1262Phe)
10g.94283893T>ACA470818867PLCE1,PLCE1-AS1c.3975T>A (p.Ser1325=)
c.*1442T>A (n.*1442T>A)
n.1634T>A
c.*183T>A (n.*183T>A)
c.3927T>A (p.Ser1309=)
n.9107T>A
n.2572T>A
c.4899T>A (p.Ser1633=)
c.4851T>A (p.Ser1617=)
c.3873T>A (p.Ser1291=)
c.3454T>A
c.3015T>A (p.Ser1005=)
c.*832T>A (n.*832T>A)
c.4168T>A
c.3744T>A (p.Ser1248=)
n.231-407A>T
c.4941T>A (p.Ser1647=)
c.4938T>A (p.Ser1646=)
c.4893T>A (p.Ser1631=)
c.4017T>A (p.Ser1339=)
c.3786T>A (p.Ser1262=)
10g.94283893T>CCA470818868PLCE1,PLCE1-AS1c.3975T>C (p.Ser1325=)
c.*1442T>C (n.*1442T>C)
n.1634T>C
c.*183T>C (n.*183T>C)
c.3927T>C (p.Ser1309=)
n.9107T>C
n.2572T>C
c.4899T>C (p.Ser1633=)
c.4851T>C (p.Ser1617=)
c.3873T>C (p.Ser1291=)
c.3454T>C
c.3015T>C (p.Ser1005=)
c.*832T>C (n.*832T>C)
c.4168T>C
c.3744T>C (p.Ser1248=)
n.231-407A>G
c.4941T>C (p.Ser1647=)
c.4938T>C (p.Ser1646=)
c.4893T>C (p.Ser1631=)
c.4017T>C (p.Ser1339=)
c.3786T>C (p.Ser1262=)
 dbSNP
10g.94283893T>GCA470818869PLCE1,PLCE1-AS1c.3975T>G (p.Ser1325=)
c.*1442T>G (n.*1442T>G)
n.1634T>G
c.*183T>G (n.*183T>G)
c.3927T>G (p.Ser1309=)
n.9107T>G
n.2572T>G
c.4899T>G (p.Ser1633=)
c.4851T>G (p.Ser1617=)
c.3873T>G (p.Ser1291=)
c.3454T>G
c.3015T>G (p.Ser1005=)
c.*832T>G (n.*832T>G)
c.4168T>G
c.3744T>G (p.Ser1248=)
n.231-407A>C
c.4941T>G (p.Ser1647=)
c.4938T>G (p.Ser1646=)
c.4893T>G (p.Ser1631=)
c.4017T>G (p.Ser1339=)
c.3786T>G (p.Ser1262=)
10g.94283893T=CA1928990392PLCE1,PLCE1-AS1c.3975T= (p.Ser1325=)
c.*1442T= (n.*1442T=)
n.1634T=
c.*183T= (n.*183T=)
c.3927T= (p.Ser1309=)
n.9107T=
n.2572T=
c.4899T= (p.Ser1633=)
c.4851T= (p.Ser1617=)
c.3873T= (p.Ser1291=)
c.3454T=
c.3015T= (p.Ser1005=)
c.*832T= (n.*832T=)
c.4168T=
c.3744T= (p.Ser1248=)
n.231-407A=
c.4941T= (p.Ser1647=)
c.4938T= (p.Ser1646=)
c.4893T= (p.Ser1631=)
c.4017T= (p.Ser1339=)
c.3786T= (p.Ser1262=)
10g.94283894G>ACA377652559PLCE1,PLCE1-AS1c.3976G>A (p.Ala1326Thr)
c.*1443G>A (n.*1443G>A)
n.1635G>A
c.*184G>A (n.*184G>A)
c.3928G>A (p.Ala1310Thr)
n.9108G>A
n.2573G>A
c.4900G>A (p.Ala1634Thr)
c.4852G>A (p.Ala1618Thr)
c.3874G>A (p.Ala1292Thr)
c.3455G>A
c.3016G>A (p.Ala1006Thr)
c.*833G>A (n.*833G>A)
c.4169G>A
c.3745G>A (p.Ala1249Thr)
n.231-408C>T
c.4942G>A (p.Ala1648Thr)
c.4939G>A (p.Ala1647Thr)
c.4894G>A (p.Ala1632Thr)
c.4018G>A (p.Ala1340Thr)
c.3787G>A (p.Ala1263Thr)
10g.94283894G>CCA377652560PLCE1,PLCE1-AS1c.3976G>C (p.Ala1326Pro)
c.*1443G>C (n.*1443G>C)
n.1635G>C
c.*184G>C (n.*184G>C)
c.3928G>C (p.Ala1310Pro)
n.9108G>C
n.2573G>C
c.4900G>C (p.Ala1634Pro)
c.4852G>C (p.Ala1618Pro)
c.3874G>C (p.Ala1292Pro)
c.3455G>C
c.3016G>C (p.Ala1006Pro)
c.*833G>C (n.*833G>C)
c.4169G>C
c.3745G>C (p.Ala1249Pro)
n.231-408C>G
c.4942G>C (p.Ala1648Pro)
c.4939G>C (p.Ala1647Pro)
c.4894G>C (p.Ala1632Pro)
c.4018G>C (p.Ala1340Pro)
c.3787G>C (p.Ala1263Pro)
10g.94283894G>TCA377652561PLCE1,PLCE1-AS1c.3976G>T (p.Ala1326Ser)
c.*1443G>T (n.*1443G>T)
n.1635G>T
c.*184G>T (n.*184G>T)
c.3928G>T (p.Ala1310Ser)
n.9108G>T
n.2573G>T
c.4900G>T (p.Ala1634Ser)
c.4852G>T (p.Ala1618Ser)
c.3874G>T (p.Ala1292Ser)
c.3455G>T
c.3016G>T (p.Ala1006Ser)
c.*833G>T (n.*833G>T)
c.4169G>T
c.3745G>T (p.Ala1249Ser)
n.231-408C>A
c.4942G>T (p.Ala1648Ser)
c.4939G>T (p.Ala1647Ser)
c.4894G>T (p.Ala1632Ser)
c.4018G>T (p.Ala1340Ser)
c.3787G>T (p.Ala1263Ser)
10g.94283895C>ACA377652562PLCE1,PLCE1-AS1c.3977C>A (p.Ala1326Asp)
c.*1444C>A (n.*1444C>A)
n.1636C>A
c.*185C>A (n.*185C>A)
c.3929C>A (p.Ala1310Asp)
n.9109C>A
n.2574C>A
c.4901C>A (p.Ala1634Asp)
c.4853C>A (p.Ala1618Asp)
c.3875C>A (p.Ala1292Asp)
c.3456C>A
c.3017C>A (p.Ala1006Asp)
c.*834C>A (n.*834C>A)
c.4170C>A
c.3746C>A (p.Ala1249Asp)
n.231-409G>T
c.4943C>A (p.Ala1648Asp)
c.4940C>A (p.Ala1647Asp)
c.4895C>A (p.Ala1632Asp)
c.4019C>A (p.Ala1340Asp)
c.3788C>A (p.Ala1263Asp)
10g.94283895C>GCA377652563PLCE1,PLCE1-AS1c.3977C>G (p.Ala1326Gly)
c.*1444C>G (n.*1444C>G)
n.1636C>G
c.*185C>G (n.*185C>G)
c.3929C>G (p.Ala1310Gly)
n.9109C>G
n.2574C>G
c.4901C>G (p.Ala1634Gly)
c.4853C>G (p.Ala1618Gly)
c.3875C>G (p.Ala1292Gly)
c.3456C>G
c.3017C>G (p.Ala1006Gly)
c.*834C>G (n.*834C>G)
c.4170C>G
c.3746C>G (p.Ala1249Gly)
n.231-409G>C
c.4943C>G (p.Ala1648Gly)
c.4940C>G (p.Ala1647Gly)
c.4895C>G (p.Ala1632Gly)
c.4019C>G (p.Ala1340Gly)
c.3788C>G (p.Ala1263Gly)
10g.94283895C>TCA377652564PLCE1,PLCE1-AS1c.3977C>T (p.Ala1326Val)
c.*1444C>T (n.*1444C>T)
n.1636C>T
c.*185C>T (n.*185C>T)
c.3929C>T (p.Ala1310Val)
n.9109C>T
n.2574C>T
c.4901C>T (p.Ala1634Val)
c.4853C>T (p.Ala1618Val)
c.3875C>T (p.Ala1292Val)
c.3456C>T
c.3017C>T (p.Ala1006Val)
c.*834C>T (n.*834C>T)
c.4170C>T
c.3746C>T (p.Ala1249Val)
n.231-409G>A
c.4943C>T (p.Ala1648Val)
c.4940C>T (p.Ala1647Val)
c.4895C>T (p.Ala1632Val)
c.4019C>T (p.Ala1340Val)
c.3788C>T (p.Ala1263Val)
 gnomAD v4
10g.94283896T>ACA470818870PLCE1,PLCE1-AS1c.3978T>A (p.Ala1326=)
c.*1445T>A (n.*1445T>A)
n.1637T>A
c.*186T>A (n.*186T>A)
c.3930T>A (p.Ala1310=)
n.9110T>A
n.2575T>A
c.4902T>A (p.Ala1634=)
c.4854T>A (p.Ala1618=)
c.3876T>A (p.Ala1292=)
c.3457T>A
c.3018T>A (p.Ala1006=)
c.*835T>A (n.*835T>A)
c.4171T>A
c.3747T>A (p.Ala1249=)
n.231-410A>T
c.4944T>A (p.Ala1648=)
c.4941T>A (p.Ala1647=)
c.4896T>A (p.Ala1632=)
c.4020T>A (p.Ala1340=)
c.3789T>A (p.Ala1263=)
 gnomAD v4
10g.94283896T>CCA10587100PLCE1,PLCE1-AS1c.3978T>C (p.Ala1326=)
c.*1445T>C (n.*1445T>C)
n.1637T>C
c.*186T>C (n.*186T>C)
c.3930T>C (p.Ala1310=)
n.9110T>C
n.2575T>C
c.4902T>C (p.Ala1634=)
c.4854T>C (p.Ala1618=)
c.3876T>C (p.Ala1292=)
c.3457T>C
c.3018T>C (p.Ala1006=)
c.*835T>C (n.*835T>C)
c.4171T>C
c.3747T>C (p.Ala1249=)
n.231-410A>G
c.4944T>C (p.Ala1648=)
c.4941T>C (p.Ala1647=)
c.4896T>C (p.Ala1632=)
c.4020T>C (p.Ala1340=)
c.3789T>C (p.Ala1263=)
 ClinVar dbSNP gnomAD v4
10g.94283896T>GCA470818871PLCE1,PLCE1-AS1c.3978T>G (p.Ala1326=)
c.*1445T>G (n.*1445T>G)
n.1637T>G
c.*186T>G (n.*186T>G)
c.3930T>G (p.Ala1310=)
n.9110T>G
n.2575T>G
c.4902T>G (p.Ala1634=)
c.4854T>G (p.Ala1618=)
c.3876T>G (p.Ala1292=)
c.3457T>G
c.3018T>G (p.Ala1006=)
c.*835T>G (n.*835T>G)
c.4171T>G
c.3747T>G (p.Ala1249=)
n.231-410A>C
c.4944T>G (p.Ala1648=)
c.4941T>G (p.Ala1647=)
c.4896T>G (p.Ala1632=)
c.4020T>G (p.Ala1340=)
c.3789T>G (p.Ala1263=)
10g.94283896T=CA1928990396PLCE1,PLCE1-AS1c.3978T= (p.Ala1326=)
c.*1445T= (n.*1445T=)
n.1637T=
c.*186T= (n.*186T=)
c.3930T= (p.Ala1310=)
n.9110T=
n.2575T=
c.4902T= (p.Ala1634=)
c.4854T= (p.Ala1618=)
c.3876T= (p.Ala1292=)
c.3457T=
c.3018T= (p.Ala1006=)
c.*835T= (n.*835T=)
c.4171T=
c.3747T= (p.Ala1249=)
n.231-410A=
c.4944T= (p.Ala1648=)
c.4941T= (p.Ala1647=)
c.4896T= (p.Ala1632=)
c.4020T= (p.Ala1340=)
c.3789T= (p.Ala1263=)
10g.94283897T>ACA377652567PLCE1,PLCE1-AS1c.3979T>A (p.Cys1327Ser)
c.*1446T>A (n.*1446T>A)
n.1638T>A
c.*187T>A (n.*187T>A)
c.3931T>A (p.Cys1311Ser)
n.9111T>A
n.2576T>A
c.4903T>A (p.Cys1635Ser)
c.4855T>A (p.Cys1619Ser)
c.3877T>A (p.Cys1293Ser)
c.3458T>A
c.3019T>A (p.Cys1007Ser)
c.*836T>A (n.*836T>A)
c.4172T>A
c.3748T>A (p.Cys1250Ser)
n.231-411A>T
c.4945T>A (p.Cys1649Ser)
c.4942T>A (p.Cys1648Ser)
c.4897T>A (p.Cys1633Ser)
c.4021T>A (p.Cys1341Ser)
c.3790T>A (p.Cys1264Ser)
10g.94283897T>CCA377652566PLCE1,PLCE1-AS1c.3979T>C (p.Cys1327Arg)
c.*1446T>C (n.*1446T>C)
n.1638T>C
c.*187T>C (n.*187T>C)
c.3931T>C (p.Cys1311Arg)
n.9111T>C
n.2576T>C
c.4903T>C (p.Cys1635Arg)
c.4855T>C (p.Cys1619Arg)
c.3877T>C (p.Cys1293Arg)
c.3458T>C
c.3019T>C (p.Cys1007Arg)
c.*836T>C (n.*836T>C)
c.4172T>C
c.3748T>C (p.Cys1250Arg)
n.231-411A>G
c.4945T>C (p.Cys1649Arg)
c.4942T>C (p.Cys1648Arg)
c.4897T>C (p.Cys1633Arg)
c.4021T>C (p.Cys1341Arg)
c.3790T>C (p.Cys1264Arg)
10g.94283897T>GCA377652565PLCE1,PLCE1-AS1c.3979T>G (p.Cys1327Gly)
c.*1446T>G (n.*1446T>G)
n.1638T>G
c.*187T>G (n.*187T>G)
c.3931T>G (p.Cys1311Gly)
n.9111T>G
n.2576T>G
c.4903T>G (p.Cys1635Gly)
c.4855T>G (p.Cys1619Gly)
c.3877T>G (p.Cys1293Gly)
c.3458T>G
c.3019T>G (p.Cys1007Gly)
c.*836T>G (n.*836T>G)
c.4172T>G
c.3748T>G (p.Cys1250Gly)
n.231-411A>C
c.4945T>G (p.Cys1649Gly)
c.4942T>G (p.Cys1648Gly)
c.4897T>G (p.Cys1633Gly)
c.4021T>G (p.Cys1341Gly)
c.3790T>G (p.Cys1264Gly)
10g.94283898G>ACA377652570PLCE1,PLCE1-AS1c.3980G>A (p.Cys1327Tyr)
c.*1447G>A (n.*1447G>A)
n.1639G>A
c.*188G>A (n.*188G>A)
c.3932G>A (p.Cys1311Tyr)
n.9112G>A
n.2577G>A
c.4904G>A (p.Cys1635Tyr)
c.4856G>A (p.Cys1619Tyr)
c.3878G>A (p.Cys1293Tyr)
c.3459G>A
c.3020G>A (p.Cys1007Tyr)
c.*837G>A (n.*837G>A)
c.4173G>A
c.3749G>A (p.Cys1250Tyr)
n.231-412C>T
c.4946G>A (p.Cys1649Tyr)
c.4943G>A (p.Cys1648Tyr)
c.4898G>A (p.Cys1633Tyr)
c.4022G>A (p.Cys1341Tyr)
c.3791G>A (p.Cys1264Tyr)
10g.94283898G>CCA377652568PLCE1,PLCE1-AS1c.3980G>C (p.Cys1327Ser)
c.*1447G>C (n.*1447G>C)
n.1639G>C
c.*188G>C (n.*188G>C)
c.3932G>C (p.Cys1311Ser)
n.9112G>C
n.2577G>C
c.4904G>C (p.Cys1635Ser)
c.4856G>C (p.Cys1619Ser)
c.3878G>C (p.Cys1293Ser)
c.3459G>C
c.3020G>C (p.Cys1007Ser)
c.*837G>C (n.*837G>C)
c.4173G>C
c.3749G>C (p.Cys1250Ser)
n.231-412C>G
c.4946G>C (p.Cys1649Ser)
c.4943G>C (p.Cys1648Ser)
c.4898G>C (p.Cys1633Ser)
c.4022G>C (p.Cys1341Ser)
c.3791G>C (p.Cys1264Ser)
10g.94283898G>TCA377652569PLCE1,PLCE1-AS1c.3980G>T (p.Cys1327Phe)
c.*1447G>T (n.*1447G>T)
n.1639G>T
c.*188G>T (n.*188G>T)
c.3932G>T (p.Cys1311Phe)
n.9112G>T
n.2577G>T
c.4904G>T (p.Cys1635Phe)
c.4856G>T (p.Cys1619Phe)
c.3878G>T (p.Cys1293Phe)
c.3459G>T
c.3020G>T (p.Cys1007Phe)
c.*837G>T (n.*837G>T)
c.4173G>T
c.3749G>T (p.Cys1250Phe)
n.231-412C>A
c.4946G>T (p.Cys1649Phe)
c.4943G>T (p.Cys1648Phe)
c.4898G>T (p.Cys1633Phe)
c.4022G>T (p.Cys1341Phe)
c.3791G>T (p.Cys1264Phe)
10g.94283899C>ACA377652571PLCE1,PLCE1-AS1c.3981C>A (p.Cys1327Ter)
c.*1448C>A (n.*1448C>A)
n.1640C>A
c.*189C>A (n.*189C>A)
c.3933C>A (p.Cys1311Ter)
n.9113C>A
n.2578C>A
c.4905C>A (p.Cys1635Ter)
c.4857C>A (p.Cys1619Ter)
c.3879C>A (p.Cys1293Ter)
c.3460C>A
c.3021C>A (p.Cys1007Ter)
c.*838C>A (n.*838C>A)
c.4174C>A
c.3750C>A (p.Cys1250Ter)
n.231-413G>T
c.4947C>A (p.Cys1649Ter)
c.4944C>A (p.Cys1648Ter)
c.4899C>A (p.Cys1633Ter)
c.4023C>A (p.Cys1341Ter)
c.3792C>A (p.Cys1264Ter)
10g.94283899C>GCA377652572PLCE1,PLCE1-AS1c.3981C>G (p.Cys1327Trp)
c.*1448C>G (n.*1448C>G)
n.1640C>G
c.*189C>G (n.*189C>G)
c.3933C>G (p.Cys1311Trp)
n.9113C>G
n.2578C>G
c.4905C>G (p.Cys1635Trp)
c.4857C>G (p.Cys1619Trp)
c.3879C>G (p.Cys1293Trp)
c.3460C>G
c.3021C>G (p.Cys1007Trp)
c.*838C>G (n.*838C>G)
c.4174C>G
c.3750C>G (p.Cys1250Trp)
n.231-413G>C
c.4947C>G (p.Cys1649Trp)
c.4944C>G (p.Cys1648Trp)
c.4899C>G (p.Cys1633Trp)
c.4023C>G (p.Cys1341Trp)
c.3792C>G (p.Cys1264Trp)
 gnomAD v4
10g.94283899C>TCA470818872PLCE1,PLCE1-AS1c.3981C>T (p.Cys1327=)
c.*1448C>T (n.*1448C>T)
n.1640C>T
c.*189C>T (n.*189C>T)
c.3933C>T (p.Cys1311=)
n.9113C>T
n.2578C>T
c.4905C>T (p.Cys1635=)
c.4857C>T (p.Cys1619=)
c.3879C>T (p.Cys1293=)
c.3460C>T
c.3021C>T (p.Cys1007=)
c.*838C>T (n.*838C>T)
c.4174C>T
c.3750C>T (p.Cys1250=)
n.231-413G>A
c.4947C>T (p.Cys1649=)
c.4944C>T (p.Cys1648=)
c.4899C>T (p.Cys1633=)
c.4023C>T (p.Cys1341=)
c.3792C>T (p.Cys1264=)
10g.94283900A=CA1928990399PLCE1,PLCE1-AS1c.3982A= (p.Asn1328=)
c.*1449A= (n.*1449A=)
n.1641A=
c.*190A= (n.*190A=)
c.3934A= (p.Asn1312=)
n.9114A=
n.2579A=
c.4906A= (p.Asn1636=)
c.4858A= (p.Asn1620=)
c.3880A= (p.Asn1294=)
c.3461A=
c.3022A= (p.Asn1008=)
c.*839A= (n.*839A=)
c.4175A=
c.3751A= (p.Asn1251=)
n.231-414T=
c.4948A= (p.Asn1650=)
c.4945A= (p.Asn1649=)
c.4900A= (p.Asn1634=)
c.4024A= (p.Asn1342=)
c.3793A= (p.Asn1265=)
10g.94283900A>CCA377652573PLCE1,PLCE1-AS1c.3982A>C (p.Asn1328His)
c.*1449A>C (n.*1449A>C)
n.1641A>C
c.*190A>C (n.*190A>C)
c.3934A>C (p.Asn1312His)
n.9114A>C
n.2579A>C
c.4906A>C (p.Asn1636His)
c.4858A>C (p.Asn1620His)
c.3880A>C (p.Asn1294His)
c.3461A>C
c.3022A>C (p.Asn1008His)
c.*839A>C (n.*839A>C)
c.4175A>C
c.3751A>C (p.Asn1251His)
n.231-414T>G
c.4948A>C (p.Asn1650His)
c.4945A>C (p.Asn1649His)
c.4900A>C (p.Asn1634His)
c.4024A>C (p.Asn1342His)
c.3793A>C (p.Asn1265His)
 dbSNP gnomAD v3 gnomAD v4
10g.94283900A>GCA377652574PLCE1,PLCE1-AS1c.3982A>G (p.Asn1328Asp)
c.*1449A>G (n.*1449A>G)
n.1641A>G
c.*190A>G (n.*190A>G)
c.3934A>G (p.Asn1312Asp)
n.9114A>G
n.2579A>G
c.4906A>G (p.Asn1636Asp)
c.4858A>G (p.Asn1620Asp)
c.3880A>G (p.Asn1294Asp)
c.3461A>G
c.3022A>G (p.Asn1008Asp)
c.*839A>G (n.*839A>G)
c.4175A>G
c.3751A>G (p.Asn1251Asp)
n.231-414T>C
c.4948A>G (p.Asn1650Asp)
c.4945A>G (p.Asn1649Asp)
c.4900A>G (p.Asn1634Asp)
c.4024A>G (p.Asn1342Asp)
c.3793A>G (p.Asn1265Asp)
10g.94283900A>TCA377652575PLCE1,PLCE1-AS1c.3982A>T (p.Asn1328Tyr)
c.*1449A>T (n.*1449A>T)
n.1641A>T
c.*190A>T (n.*190A>T)
c.3934A>T (p.Asn1312Tyr)
n.9114A>T
n.2579A>T
c.4906A>T (p.Asn1636Tyr)
c.4858A>T (p.Asn1620Tyr)
c.3880A>T (p.Asn1294Tyr)
c.3461A>T
c.3022A>T (p.Asn1008Tyr)
c.*839A>T (n.*839A>T)
c.4175A>T
c.3751A>T (p.Asn1251Tyr)
n.231-414T>A
c.4948A>T (p.Asn1650Tyr)
c.4945A>T (p.Asn1649Tyr)
c.4900A>T (p.Asn1634Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3793A>T (p.Asn1265Tyr)
10g.94283901A=CA1928990402PLCE1,PLCE1-AS1c.3983A= (p.Asn1328=)
c.*1450A= (n.*1450A=)
n.1642A=
c.*191A= (n.*191A=)
c.3935A= (p.Asn1312=)
n.9115A=
n.2580A=
c.4907A= (p.Asn1636=)
c.4859A= (p.Asn1620=)
c.3881A= (p.Asn1294=)
c.3462A=
c.3023A= (p.Asn1008=)
c.*840A= (n.*840A=)
c.4176A=
c.3752A= (p.Asn1251=)
n.231-415T=
c.4949A= (p.Asn1650=)
c.4946A= (p.Asn1649=)
c.4901A= (p.Asn1634=)
c.4025A= (p.Asn1342=)
c.3794A= (p.Asn1265=)
10g.94283901A>CCA377652576PLCE1,PLCE1-AS1c.3983A>C (p.Asn1328Thr)
c.*1450A>C (n.*1450A>C)
n.1642A>C
c.*191A>C (n.*191A>C)
c.3935A>C (p.Asn1312Thr)
n.9115A>C
n.2580A>C
c.4907A>C (p.Asn1636Thr)
c.4859A>C (p.Asn1620Thr)
c.3881A>C (p.Asn1294Thr)
c.3462A>C
c.3023A>C (p.Asn1008Thr)
c.*840A>C (n.*840A>C)
c.4176A>C
c.3752A>C (p.Asn1251Thr)
n.231-415T>G
c.4949A>C (p.Asn1650Thr)
c.4946A>C (p.Asn1649Thr)
c.4901A>C (p.Asn1634Thr)
c.4025A>C (p.Asn1342Thr)
c.3794A>C (p.Asn1265Thr)
10g.94283901A>GCA377652577PLCE1,PLCE1-AS1c.3983A>G (p.Asn1328Ser)
c.*1450A>G (n.*1450A>G)
n.1642A>G
c.*191A>G (n.*191A>G)
c.3935A>G (p.Asn1312Ser)
n.9115A>G
n.2580A>G
c.4907A>G (p.Asn1636Ser)
c.4859A>G (p.Asn1620Ser)
c.3881A>G (p.Asn1294Ser)
c.3462A>G
c.3023A>G (p.Asn1008Ser)
c.*840A>G (n.*840A>G)
c.4176A>G
c.3752A>G (p.Asn1251Ser)
n.231-415T>C
c.4949A>G (p.Asn1650Ser)
c.4946A>G (p.Asn1649Ser)
c.4901A>G (p.Asn1634Ser)
c.4025A>G (p.Asn1342Ser)
c.3794A>G (p.Asn1265Ser)
 dbSNP gnomAD v4
10g.94283901A>TCA377652578PLCE1,PLCE1-AS1c.3983A>T (p.Asn1328Ile)
c.*1450A>T (n.*1450A>T)
n.1642A>T
c.*191A>T (n.*191A>T)
c.3935A>T (p.Asn1312Ile)
n.9115A>T
n.2580A>T
c.4907A>T (p.Asn1636Ile)
c.4859A>T (p.Asn1620Ile)
c.3881A>T (p.Asn1294Ile)
c.3462A>T
c.3023A>T (p.Asn1008Ile)
c.*840A>T (n.*840A>T)
c.4176A>T
c.3752A>T (p.Asn1251Ile)
n.231-415T>A
c.4949A>T (p.Asn1650Ile)
c.4946A>T (p.Asn1649Ile)
c.4901A>T (p.Asn1634Ile)
c.4025A>T (p.Asn1342Ile)
c.3794A>T (p.Asn1265Ile)
10g.94283902C>ACA377652579PLCE1,PLCE1-AS1c.3984C>A (p.Asn1328Lys)
c.*1451C>A (n.*1451C>A)
n.1643C>A
c.*192C>A (n.*192C>A)
c.3936C>A (p.Asn1312Lys)
n.9116C>A
n.2581C>A
c.4908C>A (p.Asn1636Lys)
c.4860C>A (p.Asn1620Lys)
c.3882C>A (p.Asn1294Lys)
c.3463C>A
c.3024C>A (p.Asn1008Lys)
c.*841C>A (n.*841C>A)
c.4177C>A
c.3753C>A (p.Asn1251Lys)
n.231-416G>T
c.4950C>A (p.Asn1650Lys)
c.4947C>A (p.Asn1649Lys)
c.4902C>A (p.Asn1634Lys)
c.4026C>A (p.Asn1342Lys)
c.3795C>A (p.Asn1265Lys)
10g.94283902C>GCA377652580PLCE1,PLCE1-AS1c.3984C>G (p.Asn1328Lys)
c.*1451C>G (n.*1451C>G)
n.1643C>G
c.*192C>G (n.*192C>G)
c.3936C>G (p.Asn1312Lys)
n.9116C>G
n.2581C>G
c.4908C>G (p.Asn1636Lys)
c.4860C>G (p.Asn1620Lys)
c.3882C>G (p.Asn1294Lys)
c.3463C>G
c.3024C>G (p.Asn1008Lys)
c.*841C>G (n.*841C>G)
c.4177C>G
c.3753C>G (p.Asn1251Lys)
n.231-416G>C
c.4950C>G (p.Asn1650Lys)
c.4947C>G (p.Asn1649Lys)
c.4902C>G (p.Asn1634Lys)
c.4026C>G (p.Asn1342Lys)
c.3795C>G (p.Asn1265Lys)
10g.94283902C>TCA470818873PLCE1,PLCE1-AS1c.3984C>T (p.Asn1328=)
c.*1451C>T (n.*1451C>T)
n.1643C>T
c.*192C>T (n.*192C>T)
c.3936C>T (p.Asn1312=)
n.9116C>T
n.2581C>T
c.4908C>T (p.Asn1636=)
c.4860C>T (p.Asn1620=)
c.3882C>T (p.Asn1294=)
c.3463C>T
c.3024C>T (p.Asn1008=)
c.*841C>T (n.*841C>T)
c.4177C>T
c.3753C>T (p.Asn1251=)
n.231-416G>A
c.4950C>T (p.Asn1650=)
c.4947C>T (p.Asn1649=)
c.4902C>T (p.Asn1634=)
c.4026C>T (p.Asn1342=)
c.3795C>T (p.Asn1265=)
10g.94283903A=CA1928990404PLCE1,PLCE1-AS1c.3985A= (p.Lys1329=)
c.*1452A= (n.*1452A=)
n.1644A=
c.*193A= (n.*193A=)
c.3937A= (p.Lys1313=)
n.9117A=
n.2582A=
c.4909A= (p.Lys1637=)
c.4861A= (p.Lys1621=)
c.3883A= (p.Lys1295=)
c.3464A=
c.3025A= (p.Lys1009=)
c.*842A= (n.*842A=)
c.4178A=
c.3754A= (p.Lys1252=)
n.231-417T=
c.4951A= (p.Lys1651=)
c.4948A= (p.Lys1650=)
c.4903A= (p.Lys1635=)
c.4027A= (p.Lys1343=)
c.3796A= (p.Lys1266=)
10g.94283903A>CCA377652582PLCE1,PLCE1-AS1c.3985A>C (p.Lys1329Gln)
c.*1452A>C (n.*1452A>C)
n.1644A>C
c.*193A>C (n.*193A>C)
c.3937A>C (p.Lys1313Gln)
n.9117A>C
n.2582A>C
c.4909A>C (p.Lys1637Gln)
c.4861A>C (p.Lys1621Gln)
c.3883A>C (p.Lys1295Gln)
c.3464A>C
c.3025A>C (p.Lys1009Gln)
c.*842A>C (n.*842A>C)
c.4178A>C
c.3754A>C (p.Lys1252Gln)
n.231-417T>G
c.4951A>C (p.Lys1651Gln)
c.4948A>C (p.Lys1650Gln)
c.4903A>C (p.Lys1635Gln)
c.4027A>C (p.Lys1343Gln)
c.3796A>C (p.Lys1266Gln)
10g.94283903A>GCA377652583PLCE1,PLCE1-AS1c.3985A>G (p.Lys1329Glu)
c.*1452A>G (n.*1452A>G)
n.1644A>G
c.*193A>G (n.*193A>G)
c.3937A>G (p.Lys1313Glu)
n.9117A>G
n.2582A>G
c.4909A>G (p.Lys1637Glu)
c.4861A>G (p.Lys1621Glu)
c.3883A>G (p.Lys1295Glu)
c.3464A>G
c.3025A>G (p.Lys1009Glu)
c.*842A>G (n.*842A>G)
c.4178A>G
c.3754A>G (p.Lys1252Glu)
n.231-417T>C
c.4951A>G (p.Lys1651Glu)
c.4948A>G (p.Lys1650Glu)
c.4903A>G (p.Lys1635Glu)
c.4027A>G (p.Lys1343Glu)
c.3796A>G (p.Lys1266Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.94283903A>TCA377652581PLCE1,PLCE1-AS1c.3985A>T (p.Lys1329Ter)
c.*1452A>T (n.*1452A>T)
n.1644A>T
c.*193A>T (n.*193A>T)
c.3937A>T (p.Lys1313Ter)
n.9117A>T
n.2582A>T
c.4909A>T (p.Lys1637Ter)
c.4861A>T (p.Lys1621Ter)
c.3883A>T (p.Lys1295Ter)
c.3464A>T
c.3025A>T (p.Lys1009Ter)
c.*842A>T (n.*842A>T)
c.4178A>T
c.3754A>T (p.Lys1252Ter)
n.231-417T>A
c.4951A>T (p.Lys1651Ter)
c.4948A>T (p.Lys1650Ter)
c.4903A>T (p.Lys1635Ter)
c.4027A>T (p.Lys1343Ter)
c.3796A>T (p.Lys1266Ter)
10g.94283908_94283912delCA2610238861PLCE1,PLCE1-AS1c.3990_3993+1del
c.*1457_*1460+1del
n.1649_1652+1del
c.*198_*201+1del
c.3942_3945+1del
n.9122_9125+1del
n.2587_2590+1del
c.4914_4917+1del
c.4866_4869+1del
c.3888_3891+1del
c.3469_3472+1del
c.3030_3033+1del
c.*847_*850+1del
c.4183_4186+1del
c.3759_3762+1del
n.231-421_231-417del
c.4956_4959+1del
c.4953_4956+1del
c.4908_4911+1del
c.4032_4035+1del
c.3801_3804+1del
 gnomAD v4
10g.94283904A>CCA377652584PLCE1,PLCE1-AS1c.3986A>C (p.Lys1329Thr)
c.*1453A>C (n.*1453A>C)
n.1645A>C
c.*194A>C (n.*194A>C)
c.3938A>C (p.Lys1313Thr)
n.9118A>C
n.2583A>C
c.4910A>C (p.Lys1637Thr)
c.4862A>C (p.Lys1621Thr)
c.3884A>C (p.Lys1295Thr)
c.3465A>C
c.3026A>C (p.Lys1009Thr)
c.*843A>C (n.*843A>C)
c.4179A>C
c.3755A>C (p.Lys1252Thr)
n.231-418T>G
c.4952A>C (p.Lys1651Thr)
c.4949A>C (p.Lys1650Thr)
c.4904A>C (p.Lys1635Thr)
c.4028A>C (p.Lys1343Thr)
c.3797A>C (p.Lys1266Thr)
10g.94283904A>GCA377652585PLCE1,PLCE1-AS1c.3986A>G (p.Lys1329Arg)
c.*1453A>G (n.*1453A>G)
n.1645A>G
c.*194A>G (n.*194A>G)
c.3938A>G (p.Lys1313Arg)
n.9118A>G
n.2583A>G
c.4910A>G (p.Lys1637Arg)
c.4862A>G (p.Lys1621Arg)
c.3884A>G (p.Lys1295Arg)
c.3465A>G
c.3026A>G (p.Lys1009Arg)
c.*843A>G (n.*843A>G)
c.4179A>G
c.3755A>G (p.Lys1252Arg)
n.231-418T>C
c.4952A>G (p.Lys1651Arg)
c.4949A>G (p.Lys1650Arg)
c.4904A>G (p.Lys1635Arg)
c.4028A>G (p.Lys1343Arg)
c.3797A>G (p.Lys1266Arg)
10g.94283904A>TCA377652586PLCE1,PLCE1-AS1c.3986A>T (p.Lys1329Ile)
c.*1453A>T (n.*1453A>T)
n.1645A>T
c.*194A>T (n.*194A>T)
c.3938A>T (p.Lys1313Ile)
n.9118A>T
n.2583A>T
c.4910A>T (p.Lys1637Ile)
c.4862A>T (p.Lys1621Ile)
c.3884A>T (p.Lys1295Ile)
c.3465A>T
c.3026A>T (p.Lys1009Ile)
c.*843A>T (n.*843A>T)
c.4179A>T
c.3755A>T (p.Lys1252Ile)
n.231-418T>A
c.4952A>T (p.Lys1651Ile)
c.4949A>T (p.Lys1650Ile)
c.4904A>T (p.Lys1635Ile)
c.4028A>T (p.Lys1343Ile)
c.3797A>T (p.Lys1266Ile)
10g.94283905A>CCA377652587PLCE1,PLCE1-AS1c.3987A>C (p.Lys1329Asn)
c.*1454A>C (n.*1454A>C)
n.1646A>C
c.*195A>C (n.*195A>C)
c.3939A>C (p.Lys1313Asn)
n.9119A>C
n.2584A>C
c.4911A>C (p.Lys1637Asn)
c.4863A>C (p.Lys1621Asn)
c.3885A>C (p.Lys1295Asn)
c.3466A>C
c.3027A>C (p.Lys1009Asn)
c.*844A>C (n.*844A>C)
c.4180A>C
c.3756A>C (p.Lys1252Asn)
n.231-419T>G
c.4953A>C (p.Lys1651Asn)
c.4950A>C (p.Lys1650Asn)
c.4905A>C (p.Lys1635Asn)
c.4029A>C (p.Lys1343Asn)
c.3798A>C (p.Lys1266Asn)
10g.94283905A>GCA470818874PLCE1,PLCE1-AS1c.3987A>G (p.Lys1329=)
c.*1454A>G (n.*1454A>G)
n.1646A>G
c.*195A>G (n.*195A>G)
c.3939A>G (p.Lys1313=)
n.9119A>G
n.2584A>G
c.4911A>G (p.Lys1637=)
c.4863A>G (p.Lys1621=)
c.3885A>G (p.Lys1295=)
c.3466A>G
c.3027A>G (p.Lys1009=)
c.*844A>G (n.*844A>G)
c.4180A>G
c.3756A>G (p.Lys1252=)
n.231-419T>C
c.4953A>G (p.Lys1651=)
c.4950A>G (p.Lys1650=)
c.4905A>G (p.Lys1635=)
c.4029A>G (p.Lys1343=)
c.3798A>G (p.Lys1266=)
10g.94283905A>TCA377652588PLCE1,PLCE1-AS1c.3987A>T (p.Lys1329Asn)
c.*1454A>T (n.*1454A>T)
n.1646A>T
c.*195A>T (n.*195A>T)
c.3939A>T (p.Lys1313Asn)
n.9119A>T
n.2584A>T
c.4911A>T (p.Lys1637Asn)
c.4863A>T (p.Lys1621Asn)
c.3885A>T (p.Lys1295Asn)
c.3466A>T
c.3027A>T (p.Lys1009Asn)
c.*844A>T (n.*844A>T)
c.4180A>T
c.3756A>T (p.Lys1252Asn)
n.231-419T>A
c.4953A>T (p.Lys1651Asn)
c.4950A>T (p.Lys1650Asn)
c.4905A>T (p.Lys1635Asn)
c.4029A>T (p.Lys1343Asn)
c.3798A>T (p.Lys1266Asn)
10g.94283906G>ACA377652591PLCE1,PLCE1-AS1c.3988G>A (p.Gly1330Arg)
c.*1455G>A (n.*1455G>A)
n.1647G>A
c.*196G>A (n.*196G>A)
c.3940G>A (p.Gly1314Arg)
n.9120G>A
n.2585G>A
c.4912G>A (p.Gly1638Arg)
c.4864G>A (p.Gly1622Arg)
c.3886G>A (p.Gly1296Arg)
c.3467G>A
c.3028G>A (p.Gly1010Arg)
c.*845G>A (n.*845G>A)
c.4181G>A
c.3757G>A (p.Gly1253Arg)
n.231-420C>T
c.4954G>A (p.Gly1652Arg)
c.4951G>A (p.Gly1651Arg)
c.4906G>A (p.Gly1636Arg)
c.4030G>A (p.Gly1344Arg)
c.3799G>A (p.Gly1267Arg)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.94283906G>CCA377652589PLCE1,PLCE1-AS1c.3988G>C (p.Gly1330Arg)
c.*1455G>C (n.*1455G>C)
n.1647G>C
c.*196G>C (n.*196G>C)
c.3940G>C (p.Gly1314Arg)
n.9120G>C
n.2585G>C
c.4912G>C (p.Gly1638Arg)
c.4864G>C (p.Gly1622Arg)
c.3886G>C (p.Gly1296Arg)
c.3467G>C
c.3028G>C (p.Gly1010Arg)
c.*845G>C (n.*845G>C)
c.4181G>C
c.3757G>C (p.Gly1253Arg)
n.231-420C>G
c.4954G>C (p.Gly1652Arg)
c.4951G>C (p.Gly1651Arg)
c.4906G>C (p.Gly1636Arg)
c.4030G>C (p.Gly1344Arg)
c.3799G>C (p.Gly1267Arg)
10g.94283906G>TCA377652590PLCE1,PLCE1-AS1c.3988G>T (p.Gly1330Ter)
c.*1455G>T (n.*1455G>T)
n.1647G>T
c.*196G>T (n.*196G>T)
c.3940G>T (p.Gly1314Ter)
n.9120G>T
n.2585G>T
c.4912G>T (p.Gly1638Ter)
c.4864G>T (p.Gly1622Ter)
c.3886G>T (p.Gly1296Ter)
c.3467G>T
c.3028G>T (p.Gly1010Ter)
c.*845G>T (n.*845G>T)
c.4181G>T
c.3757G>T (p.Gly1253Ter)
n.231-420C>A
c.4954G>T (p.Gly1652Ter)
c.4951G>T (p.Gly1651Ter)
c.4906G>T (p.Gly1636Ter)
c.4030G>T (p.Gly1344Ter)
c.3799G>T (p.Gly1267Ter)
10g.94283907G>ACA377652592PLCE1,PLCE1-AS1c.3989G>A (p.Gly1330Glu)
c.*1456G>A (n.*1456G>A)
n.1648G>A
c.*197G>A (n.*197G>A)
c.3941G>A (p.Gly1314Glu)
n.9121G>A
n.2586G>A
c.4913G>A (p.Gly1638Glu)
c.4865G>A (p.Gly1622Glu)
c.3887G>A (p.Gly1296Glu)
c.3468G>A
c.3029G>A (p.Gly1010Glu)
c.*846G>A (n.*846G>A)
c.4182G>A
c.3758G>A (p.Gly1253Glu)
n.231-421C>T
c.4955G>A (p.Gly1652Glu)
c.4952G>A (p.Gly1651Glu)
c.4907G>A (p.Gly1636Glu)
c.4031G>A (p.Gly1344Glu)
c.3800G>A (p.Gly1267Glu)
10g.94283907G>CCA377652593PLCE1,PLCE1-AS1c.3989G>C (p.Gly1330Ala)
c.*1456G>C (n.*1456G>C)
n.1648G>C
c.*197G>C (n.*197G>C)
c.3941G>C (p.Gly1314Ala)
n.9121G>C
n.2586G>C
c.4913G>C (p.Gly1638Ala)
c.4865G>C (p.Gly1622Ala)
c.3887G>C (p.Gly1296Ala)
c.3468G>C
c.3029G>C (p.Gly1010Ala)
c.*846G>C (n.*846G>C)
c.4182G>C
c.3758G>C (p.Gly1253Ala)
n.231-421C>G
c.4955G>C (p.Gly1652Ala)
c.4952G>C (p.Gly1651Ala)
c.4907G>C (p.Gly1636Ala)
c.4031G>C (p.Gly1344Ala)
c.3800G>C (p.Gly1267Ala)
10g.94283907G=CA1928990406PLCE1,PLCE1-AS1c.3989G= (p.Gly1330=)
c.*1456G= (n.*1456G=)
n.1648G=
c.*197G= (n.*197G=)
c.3941G= (p.Gly1314=)
n.9121G=
n.2586G=
c.4913G= (p.Gly1638=)
c.4865G= (p.Gly1622=)
c.3887G= (p.Gly1296=)
c.3468G=
c.3029G= (p.Gly1010=)
c.*846G= (n.*846G=)
c.4182G=
c.3758G= (p.Gly1253=)
n.231-421C=
c.4955G= (p.Gly1652=)
c.4952G= (p.Gly1651=)
c.4907G= (p.Gly1636=)
c.4031G= (p.Gly1344=)
c.3800G= (p.Gly1267=)
10g.94283907G>TCA377652594PLCE1,PLCE1-AS1c.3989G>T (p.Gly1330Val)
c.*1456G>T (n.*1456G>T)
n.1648G>T
c.*197G>T (n.*197G>T)
c.3941G>T (p.Gly1314Val)
n.9121G>T
n.2586G>T
c.4913G>T (p.Gly1638Val)
c.4865G>T (p.Gly1622Val)
c.3887G>T (p.Gly1296Val)
c.3468G>T
c.3029G>T (p.Gly1010Val)
c.*846G>T (n.*846G>T)
c.4182G>T
c.3758G>T (p.Gly1253Val)
n.231-421C>A
c.4955G>T (p.Gly1652Val)
c.4952G>T (p.Gly1651Val)
c.4907G>T (p.Gly1636Val)
c.4031G>T (p.Gly1344Val)
c.3800G>T (p.Gly1267Val)
 dbSNP
10g.94283908A>CCA470818875PLCE1,PLCE1-AS1c.3990A>C (p.Gly1330=)
c.*1457A>C (n.*1457A>C)
n.1649A>C
c.*198A>C (n.*198A>C)
c.3942A>C (p.Gly1314=)
n.9122A>C
n.2587A>C
c.4914A>C (p.Gly1638=)
c.4866A>C (p.Gly1622=)
c.3888A>C (p.Gly1296=)
c.3469A>C
c.3030A>C (p.Gly1010=)
c.*847A>C (n.*847A>C)
c.4183A>C
c.3759A>C (p.Gly1253=)
n.231-422T>G
c.4956A>C (p.Gly1652=)
c.4953A>C (p.Gly1651=)
c.4908A>C (p.Gly1636=)
c.4032A>C (p.Gly1344=)
c.3801A>C (p.Gly1267=)
10g.94283908A>GCA470818876PLCE1,PLCE1-AS1c.3990A>G (p.Gly1330=)
c.*1457A>G (n.*1457A>G)
n.1649A>G
c.*198A>G (n.*198A>G)
c.3942A>G (p.Gly1314=)
n.9122A>G
n.2587A>G
c.4914A>G (p.Gly1638=)
c.4866A>G (p.Gly1622=)
c.3888A>G (p.Gly1296=)
c.3469A>G
c.3030A>G (p.Gly1010=)
c.*847A>G (n.*847A>G)
c.4183A>G
c.3759A>G (p.Gly1253=)
n.231-422T>C
c.4956A>G (p.Gly1652=)
c.4953A>G (p.Gly1651=)
c.4908A>G (p.Gly1636=)
c.4032A>G (p.Gly1344=)
c.3801A>G (p.Gly1267=)
10g.94283908A>TCA470818877PLCE1,PLCE1-AS1c.3990A>T (p.Gly1330=)
c.*1457A>T (n.*1457A>T)
n.1649A>T
c.*198A>T (n.*198A>T)
c.3942A>T (p.Gly1314=)
n.9122A>T
n.2587A>T
c.4914A>T (p.Gly1638=)
c.4866A>T (p.Gly1622=)
c.3888A>T (p.Gly1296=)
c.3469A>T
c.3030A>T (p.Gly1010=)
c.*847A>T (n.*847A>T)
c.4183A>T
c.3759A>T (p.Gly1253=)
n.231-422T>A
c.4956A>T (p.Gly1652=)
c.4953A>T (p.Gly1651=)
c.4908A>T (p.Gly1636=)
c.4032A>T (p.Gly1344=)
c.3801A>T (p.Gly1267=)
10g.94283909A>CCA377652595PLCE1,PLCE1-AS1c.3991A>C (p.Lys1331Gln)
c.*1458A>C (n.*1458A>C)
n.1650A>C
c.*199A>C (n.*199A>C)
c.3943A>C (p.Lys1315Gln)
n.9123A>C
n.2588A>C
c.4915A>C (p.Lys1639Gln)
c.4867A>C (p.Lys1623Gln)
c.3889A>C (p.Lys1297Gln)
c.3470A>C
c.3031A>C (p.Lys1011Gln)
c.*848A>C (n.*848A>C)
c.4184A>C
c.3760A>C (p.Lys1254Gln)
n.231-423T>G
c.4957A>C (p.Lys1653Gln)
c.4954A>C (p.Lys1652Gln)
c.4909A>C (p.Lys1637Gln)
c.4033A>C (p.Lys1345Gln)
c.3802A>C (p.Lys1268Gln)
10g.94283909A>GCA377652596PLCE1,PLCE1-AS1c.3991A>G (p.Lys1331Glu)
c.*1458A>G (n.*1458A>G)
n.1650A>G
c.*199A>G (n.*199A>G)
c.3943A>G (p.Lys1315Glu)
n.9123A>G
n.2588A>G
c.4915A>G (p.Lys1639Glu)
c.4867A>G (p.Lys1623Glu)
c.3889A>G (p.Lys1297Glu)
c.3470A>G
c.3031A>G (p.Lys1011Glu)
c.*848A>G (n.*848A>G)
c.4184A>G
c.3760A>G (p.Lys1254Glu)
n.231-423T>C
c.4957A>G (p.Lys1653Glu)
c.4954A>G (p.Lys1652Glu)
c.4909A>G (p.Lys1637Glu)
c.4033A>G (p.Lys1345Glu)
c.3802A>G (p.Lys1268Glu)
10g.94283909A>TCA377652597PLCE1,PLCE1-AS1c.3991A>T (p.Lys1331Ter)
c.*1458A>T (n.*1458A>T)
n.1650A>T
c.*199A>T (n.*199A>T)
c.3943A>T (p.Lys1315Ter)
n.9123A>T
n.2588A>T
c.4915A>T (p.Lys1639Ter)
c.4867A>T (p.Lys1623Ter)
c.3889A>T (p.Lys1297Ter)
c.3470A>T
c.3031A>T (p.Lys1011Ter)
c.*848A>T (n.*848A>T)
c.4184A>T
c.3760A>T (p.Lys1254Ter)
n.231-423T>A
c.4957A>T (p.Lys1653Ter)
c.4954A>T (p.Lys1652Ter)
c.4909A>T (p.Lys1637Ter)
c.4033A>T (p.Lys1345Ter)
c.3802A>T (p.Lys1268Ter)
10g.94283910A>CCA377652599PLCE1,PLCE1-AS1c.3992A>C (p.Lys1331Thr)
c.*1459A>C (n.*1459A>C)
n.1651A>C
c.*200A>C (n.*200A>C)
c.3944A>C (p.Lys1315Thr)
n.9124A>C
n.2589A>C
c.4916A>C (p.Lys1639Thr)
c.4868A>C (p.Lys1623Thr)
c.3890A>C (p.Lys1297Thr)
c.3471A>C
c.3032A>C (p.Lys1011Thr)
c.*849A>C (n.*849A>C)
c.4185A>C
c.3761A>C (p.Lys1254Thr)
n.231-424T>G
c.4958A>C (p.Lys1653Thr)
c.4955A>C (p.Lys1652Thr)
c.4910A>C (p.Lys1637Thr)
c.4034A>C (p.Lys1345Thr)
c.3803A>C (p.Lys1268Thr)
10g.94283910A>GCA377652600PLCE1,PLCE1-AS1c.3992A>G (p.Lys1331Arg)
c.*1459A>G (n.*1459A>G)
n.1651A>G
c.*200A>G (n.*200A>G)
c.3944A>G (p.Lys1315Arg)
n.9124A>G
n.2589A>G
c.4916A>G (p.Lys1639Arg)
c.4868A>G (p.Lys1623Arg)
c.3890A>G (p.Lys1297Arg)
c.3471A>G
c.3032A>G (p.Lys1011Arg)
c.*849A>G (n.*849A>G)
c.4185A>G
c.3761A>G (p.Lys1254Arg)
n.231-424T>C
c.4958A>G (p.Lys1653Arg)
c.4955A>G (p.Lys1652Arg)
c.4910A>G (p.Lys1637Arg)
c.4034A>G (p.Lys1345Arg)
c.3803A>G (p.Lys1268Arg)
 gnomAD v4
10g.94283910A>TCA377652598PLCE1,PLCE1-AS1c.3992A>T (p.Lys1331Met)
c.*1459A>T (n.*1459A>T)
n.1651A>T
c.*200A>T (n.*200A>T)
c.3944A>T (p.Lys1315Met)
n.9124A>T
n.2589A>T
c.4916A>T (p.Lys1639Met)
c.4868A>T (p.Lys1623Met)
c.3890A>T (p.Lys1297Met)
c.3471A>T
c.3032A>T (p.Lys1011Met)
c.*849A>T (n.*849A>T)
c.4185A>T
c.3761A>T (p.Lys1254Met)
n.231-424T>A
c.4958A>T (p.Lys1653Met)
c.4955A>T (p.Lys1652Met)
c.4910A>T (p.Lys1637Met)
c.4034A>T (p.Lys1345Met)
c.3803A>T (p.Lys1268Met)
10g.94283911G>ACA5613244PLCE1,PLCE1-AS1c.3993G>A (p.Lys1331=)
c.*1460G>A (n.*1460G>A)
n.1652G>A
c.*201G>A (n.*201G>A)
c.3945G>A (p.Lys1315=)
n.9125G>A
n.2590G>A
c.4917G>A (p.Lys1639=)
c.4869G>A (p.Lys1623=)
c.3891G>A (p.Lys1297=)
c.3472G>A
c.3033G>A (p.Lys1011=)
c.*850G>A (n.*850G>A)
c.4186G>A
c.3762G>A (p.Lys1254=)
n.231-425C>T
c.4959G>A (p.Lys1653=)
c.4956G>A (p.Lys1652=)
c.4911G>A (p.Lys1637=)
c.4035G>A (p.Lys1345=)
c.3804G>A (p.Lys1268=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283911G>CCA377652602PLCE1,PLCE1-AS1c.3993G>C (p.Lys1331Asn)
c.*1460G>C (n.*1460G>C)
n.1652G>C
c.*201G>C (n.*201G>C)
c.3945G>C (p.Lys1315Asn)
n.9125G>C
n.2590G>C
c.4917G>C (p.Lys1639Asn)
c.4869G>C (p.Lys1623Asn)
c.3891G>C (p.Lys1297Asn)
c.3472G>C
c.3033G>C (p.Lys1011Asn)
c.*850G>C (n.*850G>C)
c.4186G>C
c.3762G>C (p.Lys1254Asn)
n.231-425C>G
c.4959G>C (p.Lys1653Asn)
c.4956G>C (p.Lys1652Asn)
c.4911G>C (p.Lys1637Asn)
c.4035G>C (p.Lys1345Asn)
c.3804G>C (p.Lys1268Asn)
10g.94283911G=CA1928990409PLCE1,PLCE1-AS1c.3993G= (p.Lys1331=)
c.*1460G= (n.*1460G=)
n.1652G=
c.*201G= (n.*201G=)
c.3945G= (p.Lys1315=)
n.9125G=
n.2590G=
c.4917G= (p.Lys1639=)
c.4869G= (p.Lys1623=)
c.3891G= (p.Lys1297=)
c.3472G=
c.3033G= (p.Lys1011=)
c.*850G= (n.*850G=)
c.4186G=
c.3762G= (p.Lys1254=)
n.231-425C=
c.4959G= (p.Lys1653=)
c.4956G= (p.Lys1652=)
c.4911G= (p.Lys1637=)
c.4035G= (p.Lys1345=)
c.3804G= (p.Lys1268=)
10g.94283911G>TCA377652601PLCE1,PLCE1-AS1c.3993G>T (p.Lys1331Asn)
c.*1460G>T (n.*1460G>T)
n.1652G>T
c.*201G>T (n.*201G>T)
c.3945G>T (p.Lys1315Asn)
n.9125G>T
n.2590G>T
c.4917G>T (p.Lys1639Asn)
c.4869G>T (p.Lys1623Asn)
c.3891G>T (p.Lys1297Asn)
c.3472G>T
c.3033G>T (p.Lys1011Asn)
c.*850G>T (n.*850G>T)
c.4186G>T
c.3762G>T (p.Lys1254Asn)
n.231-425C>A
c.4959G>T (p.Lys1653Asn)
c.4956G>T (p.Lys1652Asn)
c.4911G>T (p.Lys1637Asn)
c.4035G>T (p.Lys1345Asn)
c.3804G>T (p.Lys1268Asn)
10g.94283912G>ACA377652603PLCE1,PLCE1-AS1c.3993+1G>A (n.3993+1G>A)
c.*1460+1G>A (n.*1460+1G>A)
n.1652+1G>A
c.*201+1G>A (n.*201+1G>A)
c.3945+1G>A (n.3945+1G>A)
n.9125+1G>A
n.2590+1G>A
c.4917+1G>A (n.4917+1G>A)
c.4869+1G>A (n.4869+1G>A)
c.3891+1G>A (n.3891+1G>A)
c.3472+1G>A
c.3033+1G>A (n.3033+1G>A)
c.*850+1G>A (n.*850+1G>A)
c.4186+1G>A
c.3762+1G>A (n.3762+1G>A)
n.231-426C>T
c.4959+1G>A (n.4959+1G>A)
c.4956+1G>A (n.4956+1G>A)
c.4911+1G>A (n.4911+1G>A)
c.4035+1G>A (n.4035+1G>A)
c.3804+1G>A (n.3804+1G>A)
10g.94283912G>CCA377652604PLCE1,PLCE1-AS1c.3993+1G>C (n.3993+1G>C)
c.*1460+1G>C (n.*1460+1G>C)
n.1652+1G>C
c.*201+1G>C (n.*201+1G>C)
c.3945+1G>C (n.3945+1G>C)
n.9125+1G>C
n.2590+1G>C
c.4917+1G>C (n.4917+1G>C)
c.4869+1G>C (n.4869+1G>C)
c.3891+1G>C (n.3891+1G>C)
c.3472+1G>C
c.3033+1G>C (n.3033+1G>C)
c.*850+1G>C (n.*850+1G>C)
c.4186+1G>C
c.3762+1G>C (n.3762+1G>C)
n.231-426C>G
c.4959+1G>C (n.4959+1G>C)
c.4956+1G>C (n.4956+1G>C)
c.4911+1G>C (n.4911+1G>C)
c.4035+1G>C (n.4035+1G>C)
c.3804+1G>C (n.3804+1G>C)
 gnomAD v4
10g.94283912G=CA1928990412PLCE1,PLCE1-AS1c.3993+1G= (n.3993+1G=)
c.*1460+1G= (n.*1460+1G=)
n.1652+1G=
c.*201+1G= (n.*201+1G=)
c.3945+1G= (n.3945+1G=)
n.9125+1G=
n.2590+1G=
c.4917+1G= (n.4917+1G=)
c.4869+1G= (n.4869+1G=)
c.3891+1G= (n.3891+1G=)
c.3472+1G=
c.3033+1G= (n.3033+1G=)
c.*850+1G= (n.*850+1G=)
c.4186+1G=
c.3762+1G= (n.3762+1G=)
n.231-426C=
c.4959+1G= (n.4959+1G=)
c.4956+1G= (n.4956+1G=)
c.4911+1G= (n.4911+1G=)
c.4035+1G= (n.4035+1G=)
c.3804+1G= (n.3804+1G=)
10g.94283912G>TCA377652605PLCE1,PLCE1-AS1c.3993+1G>T (n.3993+1G>T)
c.*1460+1G>T (n.*1460+1G>T)
n.1652+1G>T
c.*201+1G>T (n.*201+1G>T)
c.3945+1G>T (n.3945+1G>T)
n.9125+1G>T
n.2590+1G>T
c.4917+1G>T (n.4917+1G>T)
c.4869+1G>T (n.4869+1G>T)
c.3891+1G>T (n.3891+1G>T)
c.3472+1G>T
c.3033+1G>T (n.3033+1G>T)
c.*850+1G>T (n.*850+1G>T)
c.4186+1G>T
c.3762+1G>T (n.3762+1G>T)
n.231-426C>A
c.4959+1G>T (n.4959+1G>T)
c.4956+1G>T (n.4956+1G>T)
c.4911+1G>T (n.4911+1G>T)
c.4035+1G>T (n.4035+1G>T)
c.3804+1G>T (n.3804+1G>T)
10g.94283913T>ACA377652606PLCE1,PLCE1-AS1c.3993+2T>A (n.3993+2T>A)
c.*1460+2T>A (n.*1460+2T>A)
n.1652+2T>A
c.*201+2T>A (n.*201+2T>A)
c.3945+2T>A (n.3945+2T>A)
n.9125+2T>A
n.2590+2T>A
c.4917+2T>A (n.4917+2T>A)
c.4869+2T>A (n.4869+2T>A)
c.3891+2T>A (n.3891+2T>A)
c.3472+2T>A
c.3033+2T>A (n.3033+2T>A)
c.*850+2T>A (n.*850+2T>A)
c.4186+2T>A
c.3762+2T>A (n.3762+2T>A)
n.231-427A>T
c.4959+2T>A (n.4959+2T>A)
c.4956+2T>A (n.4956+2T>A)
c.4911+2T>A (n.4911+2T>A)
c.4035+2T>A (n.4035+2T>A)
c.3804+2T>A (n.3804+2T>A)
10g.94283913T>CCA377652607PLCE1,PLCE1-AS1c.3993+2T>C (n.3993+2T>C)
c.*1460+2T>C (n.*1460+2T>C)
n.1652+2T>C
c.*201+2T>C (n.*201+2T>C)
c.3945+2T>C (n.3945+2T>C)
n.9125+2T>C
n.2590+2T>C
c.4917+2T>C (n.4917+2T>C)
c.4869+2T>C (n.4869+2T>C)
c.3891+2T>C (n.3891+2T>C)
c.3472+2T>C
c.3033+2T>C (n.3033+2T>C)
c.*850+2T>C (n.*850+2T>C)
c.4186+2T>C
c.3762+2T>C (n.3762+2T>C)
n.231-427A>G
c.4959+2T>C (n.4959+2T>C)
c.4956+2T>C (n.4956+2T>C)
c.4911+2T>C (n.4911+2T>C)
c.4035+2T>C (n.4035+2T>C)
c.3804+2T>C (n.3804+2T>C)
10g.94283913T>GCA377652608PLCE1,PLCE1-AS1c.3993+2T>G (n.3993+2T>G)
c.*1460+2T>G (n.*1460+2T>G)
n.1652+2T>G
c.*201+2T>G (n.*201+2T>G)
c.3945+2T>G (n.3945+2T>G)
n.9125+2T>G
n.2590+2T>G
c.4917+2T>G (n.4917+2T>G)
c.4869+2T>G (n.4869+2T>G)
c.3891+2T>G (n.3891+2T>G)
c.3472+2T>G
c.3033+2T>G (n.3033+2T>G)
c.*850+2T>G (n.*850+2T>G)
c.4186+2T>G
c.3762+2T>G (n.3762+2T>G)
n.231-427A>C
c.4959+2T>G (n.4959+2T>G)
c.4956+2T>G (n.4956+2T>G)
c.4911+2T>G (n.4911+2T>G)
c.4035+2T>G (n.4035+2T>G)
c.3804+2T>G (n.3804+2T>G)
10g.94283913_94283968dupCA595300781PLCE1,PLCE1-AS1c.3993+2_3993+57dup (n.3993+2_3993+57dup)
c.*1460+2_*1460+57dup (n.*1460+2_*1460+57dup)
n.1652+2_1652+57dup
c.*201+2_*201+57dup (n.*201+2_*201+57dup)
c.3945+2_3945+57dup (n.3945+2_3945+57dup)
n.9125+2_9125+57dup
n.2590+2_2590+57dup
c.4917+2_4917+57dup (n.4917+2_4917+57dup)
c.4869+2_4869+57dup (n.4869+2_4869+57dup)
c.3891+2_3891+57dup (n.3891+2_3891+57dup)
c.3472+2_3472+57dup
c.3033+2_3033+57dup (n.3033+2_3033+57dup)
c.*850+2_*850+57dup (n.*850+2_*850+57dup)
c.4186+2_4186+57dup
c.3762+2_3762+57dup (n.3762+2_3762+57dup)
n.231-482_231-427dup
c.4959+2_4959+57dup (n.4959+2_4959+57dup)
c.4956+2_4956+57dup (n.4956+2_4956+57dup)
c.4911+2_4911+57dup (n.4911+2_4911+57dup)
c.4035+2_4035+57dup (n.4035+2_4035+57dup)
c.3804+2_3804+57dup (n.3804+2_3804+57dup)
 dbSNP gnomAD v2 gnomAD v4
10g.94283914G>ACA5613245PLCE1,PLCE1-AS1c.3993+3G>A (n.3993+3G>A)
c.*1460+3G>A (n.*1460+3G>A)
n.1652+3G>A
c.*201+3G>A (n.*201+3G>A)
c.3945+3G>A (n.3945+3G>A)
n.9125+3G>A
n.2590+3G>A
c.4917+3G>A (n.4917+3G>A)
c.4869+3G>A (n.4869+3G>A)
c.3891+3G>A (n.3891+3G>A)
c.3472+3G>A
c.3033+3G>A (n.3033+3G>A)
c.*850+3G>A (n.*850+3G>A)
c.4186+3G>A
c.3762+3G>A (n.3762+3G>A)
n.231-428C>T
c.4959+3G>A (n.4959+3G>A)
c.4956+3G>A (n.4956+3G>A)
c.4911+3G>A (n.4911+3G>A)
c.4035+3G>A (n.4035+3G>A)
c.3804+3G>A (n.3804+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283914G=CA1928990415PLCE1,PLCE1-AS1c.3993+3G= (n.3993+3G=)
c.*1460+3G= (n.*1460+3G=)
n.1652+3G=
c.*201+3G= (n.*201+3G=)
c.3945+3G= (n.3945+3G=)
n.9125+3G=
n.2590+3G=
c.4917+3G= (n.4917+3G=)
c.4869+3G= (n.4869+3G=)
c.3891+3G= (n.3891+3G=)
c.3472+3G=
c.3033+3G= (n.3033+3G=)
c.*850+3G= (n.*850+3G=)
c.4186+3G=
c.3762+3G= (n.3762+3G=)
n.231-428C=
c.4959+3G= (n.4959+3G=)
c.4956+3G= (n.4956+3G=)
c.4911+3G= (n.4911+3G=)
c.4035+3G= (n.4035+3G=)
c.3804+3G= (n.3804+3G=)
10g.94283914G>TCA211628252PLCE1,PLCE1-AS1c.3993+3G>T (n.3993+3G>T)
c.*1460+3G>T (n.*1460+3G>T)
n.1652+3G>T
c.*201+3G>T (n.*201+3G>T)
c.3945+3G>T (n.3945+3G>T)
n.9125+3G>T
n.2590+3G>T
c.4917+3G>T (n.4917+3G>T)
c.4869+3G>T (n.4869+3G>T)
c.3891+3G>T (n.3891+3G>T)
c.3472+3G>T
c.3033+3G>T (n.3033+3G>T)
c.*850+3G>T (n.*850+3G>T)
c.4186+3G>T
c.3762+3G>T (n.3762+3G>T)
n.231-428C>A
c.4959+3G>T (n.4959+3G>T)
c.4956+3G>T (n.4956+3G>T)
c.4911+3G>T (n.4911+3G>T)
c.4035+3G>T (n.4035+3G>T)
c.3804+3G>T (n.3804+3G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.94283915G>ACA2610238863PLCE1,PLCE1-AS1c.3993+4G>A (n.3993+4G>A)
c.*1460+4G>A (n.*1460+4G>A)
n.1652+4G>A
c.*201+4G>A (n.*201+4G>A)
c.3945+4G>A (n.3945+4G>A)
n.9125+4G>A
n.2590+4G>A
c.4917+4G>A (n.4917+4G>A)
c.4869+4G>A (n.4869+4G>A)
c.3891+4G>A (n.3891+4G>A)
c.3472+4G>A
c.3033+4G>A (n.3033+4G>A)
c.*850+4G>A (n.*850+4G>A)
c.4186+4G>A
c.3762+4G>A (n.3762+4G>A)
n.231-429C>T
c.4959+4G>A (n.4959+4G>A)
c.4956+4G>A (n.4956+4G>A)
c.4911+4G>A (n.4911+4G>A)
c.4035+4G>A (n.4035+4G>A)
c.3804+4G>A (n.3804+4G>A)
 gnomAD v4
10g.94283916G>ACA670120954PLCE1,PLCE1-AS1c.3993+5G>A (n.3993+5G>A)
c.*1460+5G>A (n.*1460+5G>A)
n.1652+5G>A
c.*201+5G>A (n.*201+5G>A)
c.3945+5G>A (n.3945+5G>A)
n.9125+5G>A
n.2590+5G>A
c.4917+5G>A (n.4917+5G>A)
c.4869+5G>A (n.4869+5G>A)
c.3891+5G>A (n.3891+5G>A)
c.3472+5G>A
c.3033+5G>A (n.3033+5G>A)
c.*850+5G>A (n.*850+5G>A)
c.4186+5G>A
c.3762+5G>A (n.3762+5G>A)
n.231-430C>T
c.4959+5G>A (n.4959+5G>A)
c.4956+5G>A (n.4956+5G>A)
c.4911+5G>A (n.4911+5G>A)
c.4035+5G>A (n.4035+5G>A)
c.3804+5G>A (n.3804+5G>A)
 dbSNP
10g.94283916G=CA1928990417PLCE1,PLCE1-AS1c.3993+5G= (n.3993+5G=)
c.*1460+5G= (n.*1460+5G=)
n.1652+5G=
c.*201+5G= (n.*201+5G=)
c.3945+5G= (n.3945+5G=)
n.9125+5G=
n.2590+5G=
c.4917+5G= (n.4917+5G=)
c.4869+5G= (n.4869+5G=)
c.3891+5G= (n.3891+5G=)
c.3472+5G=
c.3033+5G= (n.3033+5G=)
c.*850+5G= (n.*850+5G=)
c.4186+5G=
c.3762+5G= (n.3762+5G=)
n.231-430C=
c.4959+5G= (n.4959+5G=)
c.4956+5G= (n.4956+5G=)
c.4911+5G= (n.4911+5G=)
c.4035+5G= (n.4035+5G=)
c.3804+5G= (n.3804+5G=)
10g.94283916G>TCA2722358975PLCE1,PLCE1-AS1c.3993+5G>T (n.3993+5G>T)
c.*1460+5G>T (n.*1460+5G>T)
n.1652+5G>T
c.*201+5G>T (n.*201+5G>T)
c.3945+5G>T (n.3945+5G>T)
n.9125+5G>T
n.2590+5G>T
c.4917+5G>T (n.4917+5G>T)
c.4869+5G>T (n.4869+5G>T)
c.3891+5G>T (n.3891+5G>T)
c.3472+5G>T
c.3033+5G>T (n.3033+5G>T)
c.*850+5G>T (n.*850+5G>T)
c.4186+5G>T
c.3762+5G>T (n.3762+5G>T)
n.231-430C>A
c.4959+5G>T (n.4959+5G>T)
c.4956+5G>T (n.4956+5G>T)
c.4911+5G>T (n.4911+5G>T)
c.4035+5G>T (n.4035+5G>T)
c.3804+5G>T (n.3804+5G>T)
 dbSNP
10g.94283917T>CCA1928990420PLCE1,PLCE1-AS1c.3993+6T>C (n.3993+6T>C)
c.*1460+6T>C (n.*1460+6T>C)
n.1652+6T>C
c.*201+6T>C (n.*201+6T>C)
c.3945+6T>C (n.3945+6T>C)
n.9125+6T>C
n.2590+6T>C
c.4917+6T>C (n.4917+6T>C)
c.4869+6T>C (n.4869+6T>C)
c.3891+6T>C (n.3891+6T>C)
c.3472+6T>C
c.3033+6T>C (n.3033+6T>C)
c.*850+6T>C (n.*850+6T>C)
c.4186+6T>C
c.3762+6T>C (n.3762+6T>C)
n.231-431A>G
c.4959+6T>C (n.4959+6T>C)
c.4956+6T>C (n.4956+6T>C)
c.4911+6T>C (n.4911+6T>C)
c.4035+6T>C (n.4035+6T>C)
c.3804+6T>C (n.3804+6T>C)
 dbSNP
10g.94283917T=CA1928990419PLCE1,PLCE1-AS1c.3993+6T= (n.3993+6T=)
c.*1460+6T= (n.*1460+6T=)
n.1652+6T=
c.*201+6T= (n.*201+6T=)
c.3945+6T= (n.3945+6T=)
n.9125+6T=
n.2590+6T=
c.4917+6T= (n.4917+6T=)
c.4869+6T= (n.4869+6T=)
c.3891+6T= (n.3891+6T=)
c.3472+6T=
c.3033+6T= (n.3033+6T=)
c.*850+6T= (n.*850+6T=)
c.4186+6T=
c.3762+6T= (n.3762+6T=)
n.231-431A=
c.4959+6T= (n.4959+6T=)
c.4956+6T= (n.4956+6T=)
c.4911+6T= (n.4911+6T=)
c.4035+6T= (n.4035+6T=)
c.3804+6T= (n.3804+6T=)
10g.94283918G>TCA2610238864PLCE1,PLCE1-AS1c.3993+7G>T (n.3993+7G>T)
c.*1460+7G>T (n.*1460+7G>T)
n.1652+7G>T
c.*201+7G>T (n.*201+7G>T)
c.3945+7G>T (n.3945+7G>T)
n.9125+7G>T
n.2590+7G>T
c.4917+7G>T (n.4917+7G>T)
c.4869+7G>T (n.4869+7G>T)
c.3891+7G>T (n.3891+7G>T)
c.3472+7G>T
c.3033+7G>T (n.3033+7G>T)
c.*850+7G>T (n.*850+7G>T)
c.4186+7G>T
c.3762+7G>T (n.3762+7G>T)
n.231-432C>A
c.4959+7G>T (n.4959+7G>T)
c.4956+7G>T (n.4956+7G>T)
c.4911+7G>T (n.4911+7G>T)
c.4035+7G>T (n.4035+7G>T)
c.3804+7G>T (n.3804+7G>T)
 gnomAD v4
10g.94283921C>ACA2789055860PLCE1,PLCE1-AS1c.3993+10C>A (n.3993+10C>A)
c.*1460+10C>A (n.*1460+10C>A)
n.1652+10C>A
c.*201+10C>A (n.*201+10C>A)
c.3945+10C>A (n.3945+10C>A)
n.9125+10C>A
n.2590+10C>A
c.4917+10C>A (n.4917+10C>A)
c.4869+10C>A (n.4869+10C>A)
c.3891+10C>A (n.3891+10C>A)
c.3472+10C>A
c.3033+10C>A (n.3033+10C>A)
c.*850+10C>A (n.*850+10C>A)
c.4186+10C>A
c.3762+10C>A (n.3762+10C>A)
n.231-435G>T
c.4959+10C>A (n.4959+10C>A)
c.4956+10C>A (n.4956+10C>A)
c.4911+10C>A (n.4911+10C>A)
c.4035+10C>A (n.4035+10C>A)
c.3804+10C>A (n.3804+10C>A)
10g.94283921C=CA1928990421PLCE1,PLCE1-AS1c.3993+10C= (n.3993+10C=)
c.*1460+10C= (n.*1460+10C=)
n.1652+10C=
c.*201+10C= (n.*201+10C=)
c.3945+10C= (n.3945+10C=)
n.9125+10C=
n.2590+10C=
c.4917+10C= (n.4917+10C=)
c.4869+10C= (n.4869+10C=)
c.3891+10C= (n.3891+10C=)
c.3472+10C=
c.3033+10C= (n.3033+10C=)
c.*850+10C= (n.*850+10C=)
c.4186+10C=
c.3762+10C= (n.3762+10C=)
n.231-435G=
c.4959+10C= (n.4959+10C=)
c.4956+10C= (n.4956+10C=)
c.4911+10C= (n.4911+10C=)
c.4035+10C= (n.4035+10C=)
c.3804+10C= (n.3804+10C=)
10g.94283921C>GCA595300784PLCE1,PLCE1-AS1c.3993+10C>G (n.3993+10C>G)
c.*1460+10C>G (n.*1460+10C>G)
n.1652+10C>G
c.*201+10C>G (n.*201+10C>G)
c.3945+10C>G (n.3945+10C>G)
n.9125+10C>G
n.2590+10C>G
c.4917+10C>G (n.4917+10C>G)
c.4869+10C>G (n.4869+10C>G)
c.3891+10C>G (n.3891+10C>G)
c.3472+10C>G
c.3033+10C>G (n.3033+10C>G)
c.*850+10C>G (n.*850+10C>G)
c.4186+10C>G
c.3762+10C>G (n.3762+10C>G)
n.231-435G>C
c.4959+10C>G (n.4959+10C>G)
c.4956+10C>G (n.4956+10C>G)
c.4911+10C>G (n.4911+10C>G)
c.4035+10C>G (n.4035+10C>G)
c.3804+10C>G (n.3804+10C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94283921C>TCA5613246PLCE1,PLCE1-AS1c.3993+10C>T (n.3993+10C>T)
c.*1460+10C>T (n.*1460+10C>T)
n.1652+10C>T
c.*201+10C>T (n.*201+10C>T)
c.3945+10C>T (n.3945+10C>T)
n.9125+10C>T
n.2590+10C>T
c.4917+10C>T (n.4917+10C>T)
c.4869+10C>T (n.4869+10C>T)
c.3891+10C>T (n.3891+10C>T)
c.3472+10C>T
c.3033+10C>T (n.3033+10C>T)
c.*850+10C>T (n.*850+10C>T)
c.4186+10C>T
c.3762+10C>T (n.3762+10C>T)
n.231-435G>A
c.4959+10C>T (n.4959+10C>T)
c.4956+10C>T (n.4956+10C>T)
c.4911+10C>T (n.4911+10C>T)
c.4035+10C>T (n.4035+10C>T)
c.3804+10C>T (n.3804+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94283922G>ACA595300786PLCE1,PLCE1-AS1c.3993+11G>A (n.3993+11G>A)
c.*1460+11G>A (n.*1460+11G>A)
n.1652+11G>A
c.*201+11G>A (n.*201+11G>A)
c.3945+11G>A (n.3945+11G>A)
n.9125+11G>A
n.2590+11G>A
c.4917+11G>A (n.4917+11G>A)
c.4869+11G>A (n.4869+11G>A)
c.3891+11G>A (n.3891+11G>A)
c.3472+11G>A
c.3033+11G>A (n.3033+11G>A)
c.*850+11G>A (n.*850+11G>A)
c.4186+11G>A
c.3762+11G>A (n.3762+11G>A)
n.231-436C>T
c.4959+11G>A (n.4959+11G>A)
c.4956+11G>A (n.4956+11G>A)
c.4911+11G>A (n.4911+11G>A)
c.4035+11G>A (n.4035+11G>A)
c.3804+11G>A (n.3804+11G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94283922G>CCA2610238865PLCE1,PLCE1-AS1c.3993+11G>C (n.3993+11G>C)
c.*1460+11G>C (n.*1460+11G>C)
n.1652+11G>C
c.*201+11G>C (n.*201+11G>C)
c.3945+11G>C (n.3945+11G>C)
n.9125+11G>C
n.2590+11G>C
c.4917+11G>C (n.4917+11G>C)
c.4869+11G>C (n.4869+11G>C)
c.3891+11G>C (n.3891+11G>C)
c.3472+11G>C
c.3033+11G>C (n.3033+11G>C)
c.*850+11G>C (n.*850+11G>C)
c.4186+11G>C
c.3762+11G>C (n.3762+11G>C)
n.231-436C>G
c.4959+11G>C (n.4959+11G>C)
c.4956+11G>C (n.4956+11G>C)
c.4911+11G>C (n.4911+11G>C)
c.4035+11G>C (n.4035+11G>C)
c.3804+11G>C (n.3804+11G>C)
 gnomAD v4
10g.94283922G=CA1928990423PLCE1,PLCE1-AS1c.3993+11G= (n.3993+11G=)
c.*1460+11G= (n.*1460+11G=)
n.1652+11G=
c.*201+11G= (n.*201+11G=)
c.3945+11G= (n.3945+11G=)
n.9125+11G=
n.2590+11G=
c.4917+11G= (n.4917+11G=)
c.4869+11G= (n.4869+11G=)
c.3891+11G= (n.3891+11G=)
c.3472+11G=
c.3033+11G= (n.3033+11G=)
c.*850+11G= (n.*850+11G=)
c.4186+11G=
c.3762+11G= (n.3762+11G=)
n.231-436C=
c.4959+11G= (n.4959+11G=)
c.4956+11G= (n.4956+11G=)
c.4911+11G= (n.4911+11G=)
c.4035+11G= (n.4035+11G=)
c.3804+11G= (n.3804+11G=)
10g.94283923G>ACA5613247PLCE1,PLCE1-AS1c.3993+12G>A (n.3993+12G>A)
c.*1460+12G>A (n.*1460+12G>A)
n.1652+12G>A
c.*201+12G>A (n.*201+12G>A)
c.3945+12G>A (n.3945+12G>A)
n.9125+12G>A
n.2590+12G>A
c.4917+12G>A (n.4917+12G>A)
c.4869+12G>A (n.4869+12G>A)
c.3891+12G>A (n.3891+12G>A)
c.3472+12G>A
c.3033+12G>A (n.3033+12G>A)
c.*850+12G>A (n.*850+12G>A)
c.4186+12G>A
c.3762+12G>A (n.3762+12G>A)
n.231-437C>T
c.4959+12G>A (n.4959+12G>A)
c.4956+12G>A (n.4956+12G>A)
c.4911+12G>A (n.4911+12G>A)
c.4035+12G>A (n.4035+12G>A)
c.3804+12G>A (n.3804+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94283923G=CA1928990425PLCE1,PLCE1-AS1c.3993+12G= (n.3993+12G=)
c.*1460+12G= (n.*1460+12G=)
n.1652+12G=
c.*201+12G= (n.*201+12G=)
c.3945+12G= (n.3945+12G=)
n.9125+12G=
n.2590+12G=
c.4917+12G= (n.4917+12G=)
c.4869+12G= (n.4869+12G=)
c.3891+12G= (n.3891+12G=)
c.3472+12G=
c.3033+12G= (n.3033+12G=)
c.*850+12G= (n.*850+12G=)
c.4186+12G=
c.3762+12G= (n.3762+12G=)
n.231-437C=
c.4959+12G= (n.4959+12G=)
c.4956+12G= (n.4956+12G=)
c.4911+12G= (n.4911+12G=)
c.4035+12G= (n.4035+12G=)
c.3804+12G= (n.3804+12G=)
10g.94283924T>CCA1928990428PLCE1,PLCE1-AS1c.3993+13T>C (n.3993+13T>C)
c.*1460+13T>C (n.*1460+13T>C)
n.1652+13T>C
c.*201+13T>C (n.*201+13T>C)
c.3945+13T>C (n.3945+13T>C)
n.9125+13T>C
n.2590+13T>C
c.4917+13T>C (n.4917+13T>C)
c.4869+13T>C (n.4869+13T>C)
c.3891+13T>C (n.3891+13T>C)
c.3472+13T>C
c.3033+13T>C (n.3033+13T>C)
c.*850+13T>C (n.*850+13T>C)
c.4186+13T>C
c.3762+13T>C (n.3762+13T>C)
n.231-438A>G
c.4959+13T>C (n.4959+13T>C)
c.4956+13T>C (n.4956+13T>C)
c.4911+13T>C (n.4911+13T>C)
c.4035+13T>C (n.4035+13T>C)
c.3804+13T>C (n.3804+13T>C)
 dbSNP
10g.94283924T=CA1928990427PLCE1,PLCE1-AS1c.3993+13T= (n.3993+13T=)
c.*1460+13T= (n.*1460+13T=)
n.1652+13T=
c.*201+13T= (n.*201+13T=)
c.3945+13T= (n.3945+13T=)
n.9125+13T=
n.2590+13T=
c.4917+13T= (n.4917+13T=)
c.4869+13T= (n.4869+13T=)
c.3891+13T= (n.3891+13T=)
c.3472+13T=
c.3033+13T= (n.3033+13T=)
c.*850+13T= (n.*850+13T=)
c.4186+13T=
c.3762+13T= (n.3762+13T=)
n.231-438A=
c.4959+13T= (n.4959+13T=)
c.4956+13T= (n.4956+13T=)
c.4911+13T= (n.4911+13T=)
c.4035+13T= (n.4035+13T=)
c.3804+13T= (n.3804+13T=)
10g.94283925T>GCA2610238866PLCE1,PLCE1-AS1c.3993+14T>G (n.3993+14T>G)
c.*1460+14T>G (n.*1460+14T>G)
n.1652+14T>G
c.*201+14T>G (n.*201+14T>G)
c.3945+14T>G (n.3945+14T>G)
n.9125+14T>G
n.2590+14T>G
c.4917+14T>G (n.4917+14T>G)
c.4869+14T>G (n.4869+14T>G)
c.3891+14T>G (n.3891+14T>G)
c.3472+14T>G
c.3033+14T>G (n.3033+14T>G)
c.*850+14T>G (n.*850+14T>G)
c.4186+14T>G
c.3762+14T>G (n.3762+14T>G)
n.231-439A>C
c.4959+14T>G (n.4959+14T>G)
c.4956+14T>G (n.4956+14T>G)
c.4911+14T>G (n.4911+14T>G)
c.4035+14T>G (n.4035+14T>G)
c.3804+14T>G (n.3804+14T>G)
 gnomAD v4
10g.94283927C>ACA2610238867PLCE1,PLCE1-AS1c.3993+16C>A (n.3993+16C>A)
c.*1460+16C>A (n.*1460+16C>A)
n.1652+16C>A
c.*201+16C>A (n.*201+16C>A)
c.3945+16C>A (n.3945+16C>A)
n.9125+16C>A
n.2590+16C>A
c.4917+16C>A (n.4917+16C>A)
c.4869+16C>A (n.4869+16C>A)
c.3891+16C>A (n.3891+16C>A)
c.3472+16C>A
c.3033+16C>A (n.3033+16C>A)
c.*850+16C>A (n.*850+16C>A)
c.4186+16C>A
c.3762+16C>A (n.3762+16C>A)
n.231-441G>T
c.4959+16C>A (n.4959+16C>A)
c.4956+16C>A (n.4956+16C>A)
c.4911+16C>A (n.4911+16C>A)
c.4035+16C>A (n.4035+16C>A)
c.3804+16C>A (n.3804+16C>A)
 gnomAD v4
10g.94283929G>CCA2610238868PLCE1,PLCE1-AS1c.3993+18G>C (n.3993+18G>C)
c.*1460+18G>C (n.*1460+18G>C)
n.1652+18G>C
c.*201+18G>C (n.*201+18G>C)
c.3945+18G>C (n.3945+18G>C)
n.9125+18G>C
n.2590+18G>C
c.4917+18G>C (n.4917+18G>C)
c.4869+18G>C (n.4869+18G>C)
c.3891+18G>C (n.3891+18G>C)
c.3472+18G>C
c.3033+18G>C (n.3033+18G>C)
c.*850+18G>C (n.*850+18G>C)
c.4186+18G>C
c.3762+18G>C (n.3762+18G>C)
n.231-443C>G
c.4959+18G>C (n.4959+18G>C)
c.4956+18G>C (n.4956+18G>C)
c.4911+18G>C (n.4911+18G>C)
c.4035+18G>C (n.4035+18G>C)
c.3804+18G>C (n.3804+18G>C)
 gnomAD v4
10g.94283933A>CCA2574455034PLCE1,PLCE1-AS1c.3993+22A>C (n.3993+22A>C)
c.*1460+22A>C (n.*1460+22A>C)
n.1652+22A>C
c.*201+22A>C (n.*201+22A>C)
c.3945+22A>C (n.3945+22A>C)
n.9125+22A>C
n.2590+22A>C
c.4917+22A>C (n.4917+22A>C)
c.4869+22A>C (n.4869+22A>C)
c.3891+22A>C (n.3891+22A>C)
c.3472+22A>C
c.3033+22A>C (n.3033+22A>C)
c.*850+22A>C (n.*850+22A>C)
c.4186+22A>C
c.3762+22A>C (n.3762+22A>C)
n.231-447T>G
c.4959+22A>C (n.4959+22A>C)
c.4956+22A>C (n.4956+22A>C)
c.4911+22A>C (n.4911+22A>C)
c.4035+22A>C (n.4035+22A>C)
c.3804+22A>C (n.3804+22A>C)
10g.94283935T>ACA1928990431PLCE1,PLCE1-AS1c.3993+24T>A (n.3993+24T>A)
c.*1460+24T>A (n.*1460+24T>A)
n.1652+24T>A
c.*201+24T>A (n.*201+24T>A)
c.3945+24T>A (n.3945+24T>A)
n.9125+24T>A
n.2590+24T>A
c.4917+24T>A (n.4917+24T>A)
c.4869+24T>A (n.4869+24T>A)
c.3891+24T>A (n.3891+24T>A)
c.3472+24T>A
c.3033+24T>A (n.3033+24T>A)
c.*850+24T>A (n.*850+24T>A)
c.4186+24T>A
c.3762+24T>A (n.3762+24T>A)
n.231-449A>T
c.4959+24T>A (n.4959+24T>A)
c.4956+24T>A (n.4956+24T>A)
c.4911+24T>A (n.4911+24T>A)
c.4035+24T>A (n.4035+24T>A)
c.3804+24T>A (n.3804+24T>A)
 dbSNP
10g.94283935T=CA1928990430PLCE1,PLCE1-AS1c.3993+24T= (n.3993+24T=)
c.*1460+24T= (n.*1460+24T=)
n.1652+24T=
c.*201+24T= (n.*201+24T=)
c.3945+24T= (n.3945+24T=)
n.9125+24T=
n.2590+24T=
c.4917+24T= (n.4917+24T=)
c.4869+24T= (n.4869+24T=)
c.3891+24T= (n.3891+24T=)
c.3472+24T=
c.3033+24T= (n.3033+24T=)
c.*850+24T= (n.*850+24T=)
c.4186+24T=
c.3762+24T= (n.3762+24T=)
n.231-449A=
c.4959+24T= (n.4959+24T=)
c.4956+24T= (n.4956+24T=)
c.4911+24T= (n.4911+24T=)
c.4035+24T= (n.4035+24T=)
c.3804+24T= (n.3804+24T=)
10g.94283936G>ACA595300788PLCE1,PLCE1-AS1c.3993+25G>A (n.3993+25G>A)
c.*1460+25G>A (n.*1460+25G>A)
n.1652+25G>A
c.*201+25G>A (n.*201+25G>A)
c.3945+25G>A (n.3945+25G>A)
n.9125+25G>A
n.2590+25G>A
c.4917+25G>A (n.4917+25G>A)
c.4869+25G>A (n.4869+25G>A)
c.3891+25G>A (n.3891+25G>A)
c.3472+25G>A
c.3033+25G>A (n.3033+25G>A)
c.*850+25G>A (n.*850+25G>A)
c.4186+25G>A
c.3762+25G>A (n.3762+25G>A)
n.231-450C>T
c.4959+25G>A (n.4959+25G>A)
c.4956+25G>A (n.4956+25G>A)
c.4911+25G>A (n.4911+25G>A)
c.4035+25G>A (n.4035+25G>A)
c.3804+25G>A (n.3804+25G>A)
 dbSNP gnomAD v2
10g.94283936G=CA1928990433PLCE1,PLCE1-AS1c.3993+25G= (n.3993+25G=)
c.*1460+25G= (n.*1460+25G=)
n.1652+25G=
c.*201+25G= (n.*201+25G=)
c.3945+25G= (n.3945+25G=)
n.9125+25G=
n.2590+25G=
c.4917+25G= (n.4917+25G=)
c.4869+25G= (n.4869+25G=)
c.3891+25G= (n.3891+25G=)
c.3472+25G=
c.3033+25G= (n.3033+25G=)
c.*850+25G= (n.*850+25G=)
c.4186+25G=
c.3762+25G= (n.3762+25G=)
n.231-450C=
c.4959+25G= (n.4959+25G=)
c.4956+25G= (n.4956+25G=)
c.4911+25G= (n.4911+25G=)
c.4035+25G= (n.4035+25G=)
c.3804+25G= (n.3804+25G=)
10g.94283936G>TCA670120970PLCE1,PLCE1-AS1c.3993+25G>T (n.3993+25G>T)
c.*1460+25G>T (n.*1460+25G>T)
n.1652+25G>T
c.*201+25G>T (n.*201+25G>T)
c.3945+25G>T (n.3945+25G>T)
n.9125+25G>T
n.2590+25G>T
c.4917+25G>T (n.4917+25G>T)
c.4869+25G>T (n.4869+25G>T)
c.3891+25G>T (n.3891+25G>T)
c.3472+25G>T
c.3033+25G>T (n.3033+25G>T)
c.*850+25G>T (n.*850+25G>T)
c.4186+25G>T
c.3762+25G>T (n.3762+25G>T)
n.231-450C>A
c.4959+25G>T (n.4959+25G>T)
c.4956+25G>T (n.4956+25G>T)
c.4911+25G>T (n.4911+25G>T)
c.4035+25G>T (n.4035+25G>T)
c.3804+25G>T (n.3804+25G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.94283939A>GCA2610238869PLCE1,PLCE1-AS1c.3993+28A>G (n.3993+28A>G)
c.*1460+28A>G (n.*1460+28A>G)
n.1652+28A>G
c.*201+28A>G (n.*201+28A>G)
c.3945+28A>G (n.3945+28A>G)
n.9125+28A>G
n.2590+28A>G
c.4917+28A>G (n.4917+28A>G)
c.4869+28A>G (n.4869+28A>G)
c.3891+28A>G (n.3891+28A>G)
c.3472+28A>G
c.3033+28A>G (n.3033+28A>G)
c.*850+28A>G (n.*850+28A>G)
c.4186+28A>G
c.3762+28A>G (n.3762+28A>G)
n.231-453T>C
c.4959+28A>G (n.4959+28A>G)
c.4956+28A>G (n.4956+28A>G)
c.4911+28A>G (n.4911+28A>G)
c.4035+28A>G (n.4035+28A>G)
c.3804+28A>G (n.3804+28A>G)
 gnomAD v4
10g.94283940C=CA1928990436PLCE1,PLCE1-AS1c.3993+29C= (n.3993+29C=)
c.*1460+29C= (n.*1460+29C=)
n.1652+29C=
c.*201+29C= (n.*201+29C=)
c.3945+29C= (n.3945+29C=)
n.9125+29C=
n.2590+29C=
c.4917+29C= (n.4917+29C=)
c.4869+29C= (n.4869+29C=)
c.3891+29C= (n.3891+29C=)
c.3472+29C=
c.3033+29C= (n.3033+29C=)
c.*850+29C= (n.*850+29C=)
c.4186+29C=
c.3762+29C= (n.3762+29C=)
n.231-454G=
c.4959+29C= (n.4959+29C=)
c.4956+29C= (n.4956+29C=)
c.4911+29C= (n.4911+29C=)
c.4035+29C= (n.4035+29C=)
c.3804+29C= (n.3804+29C=)
10g.94283940C>GCA2574455038PLCE1,PLCE1-AS1c.3993+29C>G (n.3993+29C>G)
c.*1460+29C>G (n.*1460+29C>G)
n.1652+29C>G
c.*201+29C>G (n.*201+29C>G)
c.3945+29C>G (n.3945+29C>G)
n.9125+29C>G
n.2590+29C>G
c.4917+29C>G (n.4917+29C>G)
c.4869+29C>G (n.4869+29C>G)
c.3891+29C>G (n.3891+29C>G)
c.3472+29C>G
c.3033+29C>G (n.3033+29C>G)
c.*850+29C>G (n.*850+29C>G)
c.4186+29C>G
c.3762+29C>G (n.3762+29C>G)
n.231-454G>C
c.4959+29C>G (n.4959+29C>G)
c.4956+29C>G (n.4956+29C>G)
c.4911+29C>G (n.4911+29C>G)
c.4035+29C>G (n.4035+29C>G)
c.3804+29C>G (n.3804+29C>G)
 gnomAD v4
10g.94283940C>TCA5613248PLCE1,PLCE1-AS1c.3993+29C>T (n.3993+29C>T)
c.*1460+29C>T (n.*1460+29C>T)
n.1652+29C>T
c.*201+29C>T (n.*201+29C>T)
c.3945+29C>T (n.3945+29C>T)
n.9125+29C>T
n.2590+29C>T
c.4917+29C>T (n.4917+29C>T)
c.4869+29C>T (n.4869+29C>T)
c.3891+29C>T (n.3891+29C>T)
c.3472+29C>T
c.3033+29C>T (n.3033+29C>T)
c.*850+29C>T (n.*850+29C>T)
c.4186+29C>T
c.3762+29C>T (n.3762+29C>T)
n.231-454G>A
c.4959+29C>T (n.4959+29C>T)
c.4956+29C>T (n.4956+29C>T)
c.4911+29C>T (n.4911+29C>T)
c.4035+29C>T (n.4035+29C>T)
c.3804+29C>T (n.3804+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched