Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8355547T>ACA415842075REREc.2877A>T (p.Ala959=)
c.4539A>T (p.Ala1513=)
c.3735A>T (p.Ala1245=)
c.1593A>T (p.Ala531=)
c.507A>T (p.Ala169=)
c.4413A>T (p.Ala1471=)
1g.8355547T>CCA415842076REREc.2877A>G (p.Ala959=)
c.4539A>G (p.Ala1513=)
c.3735A>G (p.Ala1245=)
c.1593A>G (p.Ala531=)
c.507A>G (p.Ala169=)
c.4413A>G (p.Ala1471=)
 gnomAD v4
1g.8355547T>GCA415842077REREc.2877A>C (p.Ala959=)
c.4539A>C (p.Ala1513=)
c.3735A>C (p.Ala1245=)
c.1593A>C (p.Ala531=)
c.507A>C (p.Ala169=)
c.4413A>C (p.Ala1471=)
 gnomAD v4
1g.8355548G>ACA338168271REREc.2876C>T (p.Ala959Val)
c.4538C>T (p.Ala1513Val)
c.3734C>T (p.Ala1245Val)
c.1592C>T (p.Ala531Val)
c.506C>T (p.Ala169Val)
c.4412C>T (p.Ala1471Val)
 ClinVar gnomAD v4
1g.8355548G>CCA338168270REREc.2876C>G (p.Ala959Gly)
c.4538C>G (p.Ala1513Gly)
c.3734C>G (p.Ala1245Gly)
c.1592C>G (p.Ala531Gly)
c.506C>G (p.Ala169Gly)
c.4412C>G (p.Ala1471Gly)
1g.8355548G>TCA338168269REREc.2876C>A (p.Ala959Glu)
c.4538C>A (p.Ala1513Glu)
c.3734C>A (p.Ala1245Glu)
c.1592C>A (p.Ala531Glu)
c.506C>A (p.Ala169Glu)
c.4412C>A (p.Ala1471Glu)
 gnomAD v4
1g.8355549C>ACA338168272REREc.2875G>T (p.Ala959Ser)
c.4537G>T (p.Ala1513Ser)
c.3733G>T (p.Ala1245Ser)
c.1591G>T (p.Ala531Ser)
c.505G>T (p.Ala169Ser)
c.4411G>T (p.Ala1471Ser)
 gnomAD v4
1g.8355549C>GCA338168273REREc.2875G>C (p.Ala959Pro)
c.4537G>C (p.Ala1513Pro)
c.3733G>C (p.Ala1245Pro)
c.1591G>C (p.Ala531Pro)
c.505G>C (p.Ala169Pro)
c.4411G>C (p.Ala1471Pro)
 gnomAD v4
1g.8355549C>TCA338168274REREc.2875G>A (p.Ala959Thr)
c.4537G>A (p.Ala1513Thr)
c.3733G>A (p.Ala1245Thr)
c.1591G>A (p.Ala531Thr)
c.505G>A (p.Ala169Thr)
c.4411G>A (p.Ala1471Thr)
 gnomAD v4
1g.8355550T>ACA415842078REREc.2874A>T (p.Ser958=)
c.4536A>T (p.Ser1512=)
c.3732A>T (p.Ser1244=)
c.1590A>T (p.Ser530=)
c.504A>T (p.Ser168=)
c.4410A>T (p.Ser1470=)
1g.8355550T>CCA415842080REREc.2874A>G (p.Ser958=)
c.4536A>G (p.Ser1512=)
c.3732A>G (p.Ser1244=)
c.1590A>G (p.Ser530=)
c.504A>G (p.Ser168=)
c.4410A>G (p.Ser1470=)
1g.8355550T>GCA415842079REREc.2874A>C (p.Ser958=)
c.4536A>C (p.Ser1512=)
c.3732A>C (p.Ser1244=)
c.1590A>C (p.Ser530=)
c.504A>C (p.Ser168=)
c.4410A>C (p.Ser1470=)
 gnomAD v3 gnomAD v4
1g.8355551G>ACA338168275REREc.2873C>T (p.Ser958Leu)
c.4535C>T (p.Ser1512Leu)
c.3731C>T (p.Ser1244Leu)
c.1589C>T (p.Ser530Leu)
c.503C>T (p.Ser168Leu)
c.4409C>T (p.Ser1470Leu)
 COSMIC
1g.8355551G>CCA338168276REREc.2873C>G (p.Ser958Ter)
c.4535C>G (p.Ser1512Ter)
c.3731C>G (p.Ser1244Ter)
c.1589C>G (p.Ser530Ter)
c.503C>G (p.Ser168Ter)
c.4409C>G (p.Ser1470Ter)
1g.8355551G>TCA338168277REREc.2873C>A (p.Ser958Ter)
c.4535C>A (p.Ser1512Ter)
c.3731C>A (p.Ser1244Ter)
c.1589C>A (p.Ser530Ter)
c.503C>A (p.Ser168Ter)
c.4409C>A (p.Ser1470Ter)
 gnomAD v4
1g.8355552A=CA1152318880REREc.2872T= (p.Ser958=)
c.4534T= (p.Ser1512=)
c.3730T= (p.Ser1244=)
c.1588T= (p.Ser530=)
c.502T= (p.Ser168=)
c.4408T= (p.Ser1470=)
1g.8355552A>CCA338168278REREc.2872T>G (p.Ser958Ala)
c.4534T>G (p.Ser1512Ala)
c.3730T>G (p.Ser1244Ala)
c.1588T>G (p.Ser530Ala)
c.502T>G (p.Ser168Ala)
c.4408T>G (p.Ser1470Ala)
1g.8355552A>GCA570745REREc.2872T>C (p.Ser958Pro)
c.4534T>C (p.Ser1512Pro)
c.3730T>C (p.Ser1244Pro)
c.1588T>C (p.Ser530Pro)
c.502T>C (p.Ser168Pro)
c.4408T>C (p.Ser1470Pro)
 dbSNP ExAC gnomAD v2 COSMIC
1g.8355552A>TCA338168279REREc.2872T>A (p.Ser958Thr)
c.4534T>A (p.Ser1512Thr)
c.3730T>A (p.Ser1244Thr)
c.1588T>A (p.Ser530Thr)
c.502T>A (p.Ser168Thr)
c.4408T>A (p.Ser1470Thr)
1g.8355553C>ACA338168280REREc.2871G>T (p.Met957Ile)
c.4533G>T (p.Met1511Ile)
c.3729G>T (p.Met1243Ile)
c.1587G>T (p.Met529Ile)
c.501G>T (p.Met167Ile)
c.4407G>T (p.Met1469Ile)
 gnomAD v4
1g.8355553C=CA1152318881REREc.2871G= (p.Met957=)
c.4533G= (p.Met1511=)
c.3729G= (p.Met1243=)
c.1587G= (p.Met529=)
c.501G= (p.Met167=)
c.4407G= (p.Met1469=)
1g.8355553C>GCA338168281REREc.2871G>C (p.Met957Ile)
c.4533G>C (p.Met1511Ile)
c.3729G>C (p.Met1243Ile)
c.1587G>C (p.Met529Ile)
c.501G>C (p.Met167Ile)
c.4407G>C (p.Met1469Ile)
 gnomAD v4
1g.8355553C>TCA570746REREc.2871G>A (p.Met957Ile)
c.4533G>A (p.Met1511Ile)
c.3729G>A (p.Met1243Ile)
c.1587G>A (p.Met529Ile)
c.501G>A (p.Met167Ile)
c.4407G>A (p.Met1469Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355554A>CCA338168282REREc.2870T>G (p.Met957Arg)
c.4532T>G (p.Met1511Arg)
c.3728T>G (p.Met1243Arg)
c.1586T>G (p.Met529Arg)
c.500T>G (p.Met167Arg)
c.4406T>G (p.Met1469Arg)
1g.8355554A>GCA338168283REREc.2870T>C (p.Met957Thr)
c.4532T>C (p.Met1511Thr)
c.3728T>C (p.Met1243Thr)
c.1586T>C (p.Met529Thr)
c.500T>C (p.Met167Thr)
c.4406T>C (p.Met1469Thr)
 ClinVar gnomAD v4
1g.8355554A>TCA338168284REREc.2870T>A (p.Met957Lys)
c.4532T>A (p.Met1511Lys)
c.3728T>A (p.Met1243Lys)
c.1586T>A (p.Met529Lys)
c.500T>A (p.Met167Lys)
c.4406T>A (p.Met1469Lys)
 gnomAD v4
1g.8355555T>ACA338168285REREc.2869A>T (p.Met957Leu)
c.4531A>T (p.Met1511Leu)
c.3727A>T (p.Met1243Leu)
c.1585A>T (p.Met529Leu)
c.499A>T (p.Met167Leu)
c.4405A>T (p.Met1469Leu)
 gnomAD v4
1g.8355555T>CCA338168286REREc.2869A>G (p.Met957Val)
c.4531A>G (p.Met1511Val)
c.3727A>G (p.Met1243Val)
c.1585A>G (p.Met529Val)
c.499A>G (p.Met167Val)
c.4405A>G (p.Met1469Val)
 dbSNP gnomAD v2 gnomAD v4
1g.8355555T>GCA338168287REREc.2869A>C (p.Met957Leu)
c.4531A>C (p.Met1511Leu)
c.3727A>C (p.Met1243Leu)
c.1585A>C (p.Met529Leu)
c.499A>C (p.Met167Leu)
c.4405A>C (p.Met1469Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.8355555T=CA1152318882REREc.2869A= (p.Met957=)
c.4531A= (p.Met1511=)
c.3727A= (p.Met1243=)
c.1585A= (p.Met529=)
c.499A= (p.Met167=)
c.4405A= (p.Met1469=)
1g.8355556G>ACA415842082REREc.2868C>T (p.Pro956=)
c.4530C>T (p.Pro1510=)
c.3726C>T (p.Pro1242=)
c.1584C>T (p.Pro528=)
c.498C>T (p.Pro166=)
c.4404C>T (p.Pro1468=)
1g.8355556G>CCA570748REREc.2868C>G (p.Pro956=)
c.4530C>G (p.Pro1510=)
c.3726C>G (p.Pro1242=)
c.1584C>G (p.Pro528=)
c.498C>G (p.Pro166=)
c.4404C>G (p.Pro1468=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355556G=CA1152318884REREc.2868C= (p.Pro956=)
c.4530C= (p.Pro1510=)
c.3726C= (p.Pro1242=)
c.1584C= (p.Pro528=)
c.498C= (p.Pro166=)
c.4404C= (p.Pro1468=)
1g.8355556G>TCA570747REREc.2868C>A (p.Pro956=)
c.4530C>A (p.Pro1510=)
c.3726C>A (p.Pro1242=)
c.1584C>A (p.Pro528=)
c.498C>A (p.Pro166=)
c.4404C>A (p.Pro1468=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.8355561dupCA1152318883REREc.2868dup (p.Met957HisfsTer?)
c.4530dup (p.Met1511HisfsTer?)
c.3726dup (p.Met1243HisfsTer?)
c.1584dup (p.Met529HisfsTer?)
c.498dup (p.Met167HisfsTer?)
c.4404dup (p.Met1469HisfsTer?)
 dbSNP gnomAD v4
1g.8355561delCA2643072837REREc.2868del (p.Met957CysfsTer?)
c.4530del (p.Met1511CysfsTer?)
c.3726del (p.Met1243CysfsTer?)
c.1584del (p.Met529CysfsTer?)
c.498del (p.Met167CysfsTer?)
c.4404del (p.Met1469CysfsTer?)
 gnomAD v4
1g.8355557G>ACA338168288REREc.2867C>T (p.Pro956Leu)
c.4529C>T (p.Pro1510Leu)
c.3725C>T (p.Pro1242Leu)
c.1583C>T (p.Pro528Leu)
c.497C>T (p.Pro166Leu)
c.4403C>T (p.Pro1468Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.8355557G>CCA338168290REREc.2867C>G (p.Pro956Arg)
c.4529C>G (p.Pro1510Arg)
c.3725C>G (p.Pro1242Arg)
c.1583C>G (p.Pro528Arg)
c.497C>G (p.Pro166Arg)
c.4403C>G (p.Pro1468Arg)
 gnomAD v4
1g.8355557G=CA1152318885REREc.2867C= (p.Pro956=)
c.4529C= (p.Pro1510=)
c.3725C= (p.Pro1242=)
c.1583C= (p.Pro528=)
c.497C= (p.Pro166=)
c.4403C= (p.Pro1468=)
1g.8355557G>TCA338168289REREc.2867C>A (p.Pro956His)
c.4529C>A (p.Pro1510His)
c.3725C>A (p.Pro1242His)
c.1583C>A (p.Pro528His)
c.497C>A (p.Pro166His)
c.4403C>A (p.Pro1468His)
 gnomAD v4
1g.8355558G>ACA338168291REREc.2866C>T (p.Pro956Ser)
c.4528C>T (p.Pro1510Ser)
c.3724C>T (p.Pro1242Ser)
c.1582C>T (p.Pro528Ser)
c.496C>T (p.Pro166Ser)
c.4402C>T (p.Pro1468Ser)
 gnomAD v4
1g.8355558G>CCA570750REREc.2866C>G (p.Pro956Ala)
c.4528C>G (p.Pro1510Ala)
c.3724C>G (p.Pro1242Ala)
c.1582C>G (p.Pro528Ala)
c.496C>G (p.Pro166Ala)
c.4402C>G (p.Pro1468Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355558G=CA1141494607REREc.2866C= (p.Pro956=)
c.4528C= (p.Pro1510=)
c.3724C= (p.Pro1242=)
c.1582C= (p.Pro528=)
c.496C= (p.Pro166=)
c.4402C= (p.Pro1468=)
1g.8355558G>TCA570749REREc.2866C>A (p.Pro956Thr)
c.4528C>A (p.Pro1510Thr)
c.3724C>A (p.Pro1242Thr)
c.1582C>A (p.Pro528Thr)
c.496C>A (p.Pro166Thr)
c.4402C>A (p.Pro1468Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355559G>ACA415842083REREc.2865C>T (p.Pro955=)
c.4527C>T (p.Pro1509=)
c.3723C>T (p.Pro1241=)
c.1581C>T (p.Pro527=)
c.495C>T (p.Pro165=)
c.4401C>T (p.Pro1467=)
 dbSNP
1g.8355559G>CCA415842084REREc.2865C>G (p.Pro955=)
c.4527C>G (p.Pro1509=)
c.3723C>G (p.Pro1241=)
c.1581C>G (p.Pro527=)
c.495C>G (p.Pro165=)
c.4401C>G (p.Pro1467=)
 gnomAD v4
1g.8355559G=CA1152318886REREc.2865C= (p.Pro955=)
c.4527C= (p.Pro1509=)
c.3723C= (p.Pro1241=)
c.1581C= (p.Pro527=)
c.495C= (p.Pro165=)
c.4401C= (p.Pro1467=)
1g.8355559G>TCA415842085REREc.2865C>A (p.Pro955=)
c.4527C>A (p.Pro1509=)
c.3723C>A (p.Pro1241=)
c.1581C>A (p.Pro527=)
c.495C>A (p.Pro165=)
c.4401C>A (p.Pro1467=)
1g.8355560G>ACA338168292REREc.2864C>T (p.Pro955Leu)
c.4526C>T (p.Pro1509Leu)
c.3722C>T (p.Pro1241Leu)
c.1580C>T (p.Pro527Leu)
c.494C>T (p.Pro165Leu)
c.4400C>T (p.Pro1467Leu)
 gnomAD v4
1g.8355560G>CCA338168293REREc.2864C>G (p.Pro955Arg)
c.4526C>G (p.Pro1509Arg)
c.3722C>G (p.Pro1241Arg)
c.1580C>G (p.Pro527Arg)
c.494C>G (p.Pro165Arg)
c.4400C>G (p.Pro1467Arg)
1g.8355560G>TCA338168294REREc.2864C>A (p.Pro955His)
c.4526C>A (p.Pro1509His)
c.3722C>A (p.Pro1241His)
c.1580C>A (p.Pro527His)
c.494C>A (p.Pro165His)
c.4400C>A (p.Pro1467His)
1g.8355561G>ACA338168295REREc.2863C>T (p.Pro955Ser)
c.4525C>T (p.Pro1509Ser)
c.3721C>T (p.Pro1241Ser)
c.1579C>T (p.Pro527Ser)
c.493C>T (p.Pro165Ser)
c.4399C>T (p.Pro1467Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355561G>CCA338168296REREc.2863C>G (p.Pro955Ala)
c.4525C>G (p.Pro1509Ala)
c.3721C>G (p.Pro1241Ala)
c.1579C>G (p.Pro527Ala)
c.493C>G (p.Pro165Ala)
c.4399C>G (p.Pro1467Ala)
1g.8355561G=CA1152318887REREc.2863C= (p.Pro955=)
c.4525C= (p.Pro1509=)
c.3721C= (p.Pro1241=)
c.1579C= (p.Pro527=)
c.493C= (p.Pro165=)
c.4399C= (p.Pro1467=)
1g.8355561G>TCA338168297REREc.2863C>A (p.Pro955Thr)
c.4525C>A (p.Pro1509Thr)
c.3721C>A (p.Pro1241Thr)
c.1579C>A (p.Pro527Thr)
c.493C>A (p.Pro165Thr)
c.4399C>A (p.Pro1467Thr)
 gnomAD v4
1g.8355562T>ACA415842086REREc.2862A>T (p.Pro954=)
c.4524A>T (p.Pro1508=)
c.3720A>T (p.Pro1240=)
c.1578A>T (p.Pro526=)
c.492A>T (p.Pro164=)
c.4398A>T (p.Pro1466=)
1g.8355562T>CCA415842088REREc.2862A>G (p.Pro954=)
c.4524A>G (p.Pro1508=)
c.3720A>G (p.Pro1240=)
c.1578A>G (p.Pro526=)
c.492A>G (p.Pro164=)
c.4398A>G (p.Pro1466=)
1g.8355562T>GCA415842087REREc.2862A>C (p.Pro954=)
c.4524A>C (p.Pro1508=)
c.3720A>C (p.Pro1240=)
c.1578A>C (p.Pro526=)
c.492A>C (p.Pro164=)
c.4398A>C (p.Pro1466=)
 dbSNP gnomAD v3 gnomAD v4
1g.8355562T=CA1152318888REREc.2862A= (p.Pro954=)
c.4524A= (p.Pro1508=)
c.3720A= (p.Pro1240=)
c.1578A= (p.Pro526=)
c.492A= (p.Pro164=)
c.4398A= (p.Pro1466=)
1g.8355563G>ACA338168298REREc.2861C>T (p.Pro954Leu)
c.4523C>T (p.Pro1508Leu)
c.3719C>T (p.Pro1240Leu)
c.1577C>T (p.Pro526Leu)
c.491C>T (p.Pro164Leu)
c.4397C>T (p.Pro1466Leu)
1g.8355563G>CCA338168299REREc.2861C>G (p.Pro954Arg)
c.4523C>G (p.Pro1508Arg)
c.3719C>G (p.Pro1240Arg)
c.1577C>G (p.Pro526Arg)
c.491C>G (p.Pro164Arg)
c.4397C>G (p.Pro1466Arg)
1g.8355563G>TCA338168300REREc.2861C>A (p.Pro954Gln)
c.4523C>A (p.Pro1508Gln)
c.3719C>A (p.Pro1240Gln)
c.1577C>A (p.Pro526Gln)
c.491C>A (p.Pro164Gln)
c.4397C>A (p.Pro1466Gln)
1g.8355565delCA2643072838REREc.2861del (p.Pro954HisfsTer?)
c.4523del (p.Pro1508HisfsTer?)
c.3719del (p.Pro1240HisfsTer?)
c.1577del (p.Pro526HisfsTer?)
c.491del (p.Pro164HisfsTer?)
c.4397del (p.Pro1466HisfsTer?)
 gnomAD v4
1g.8355564G>ACA338168303REREc.2860C>T (p.Pro954Ser)
c.4522C>T (p.Pro1508Ser)
c.3718C>T (p.Pro1240Ser)
c.1576C>T (p.Pro526Ser)
c.490C>T (p.Pro164Ser)
c.4396C>T (p.Pro1466Ser)
1g.8355564G>CCA338168301REREc.2860C>G (p.Pro954Ala)
c.4522C>G (p.Pro1508Ala)
c.3718C>G (p.Pro1240Ala)
c.1576C>G (p.Pro526Ala)
c.490C>G (p.Pro164Ala)
c.4396C>G (p.Pro1466Ala)
1g.8355564G>TCA338168302REREc.2860C>A (p.Pro954Thr)
c.4522C>A (p.Pro1508Thr)
c.3718C>A (p.Pro1240Thr)
c.1576C>A (p.Pro526Thr)
c.490C>A (p.Pro164Thr)
c.4396C>A (p.Pro1466Thr)
1g.8355565G>ACA415842089REREc.2859C>T (p.Ile953=)
c.4521C>T (p.Ile1507=)
c.3717C>T (p.Ile1239=)
c.1575C>T (p.Ile525=)
c.489C>T (p.Ile163=)
c.4395C>T (p.Ile1465=)
1g.8355565G>CCA338168304REREc.2859C>G (p.Ile953Met)
c.4521C>G (p.Ile1507Met)
c.3717C>G (p.Ile1239Met)
c.1575C>G (p.Ile525Met)
c.489C>G (p.Ile163Met)
c.4395C>G (p.Ile1465Met)
1g.8355565G>TCA415842090REREc.2859C>A (p.Ile953=)
c.4521C>A (p.Ile1507=)
c.3717C>A (p.Ile1239=)
c.1575C>A (p.Ile525=)
c.489C>A (p.Ile163=)
c.4395C>A (p.Ile1465=)
1g.8355566A>CCA338168305REREc.2858T>G (p.Ile953Ser)
c.4520T>G (p.Ile1507Ser)
c.3716T>G (p.Ile1239Ser)
c.1574T>G (p.Ile525Ser)
c.488T>G (p.Ile163Ser)
c.4394T>G (p.Ile1465Ser)
1g.8355566A>GCA338168306REREc.2858T>C (p.Ile953Thr)
c.4520T>C (p.Ile1507Thr)
c.3716T>C (p.Ile1239Thr)
c.1574T>C (p.Ile525Thr)
c.488T>C (p.Ile163Thr)
c.4394T>C (p.Ile1465Thr)
1g.8355566A>TCA338168307REREc.2858T>A (p.Ile953Asn)
c.4520T>A (p.Ile1507Asn)
c.3716T>A (p.Ile1239Asn)
c.1574T>A (p.Ile525Asn)
c.488T>A (p.Ile163Asn)
c.4394T>A (p.Ile1465Asn)
1g.8355567T>ACA338168308REREc.2857A>T (p.Ile953Phe)
c.4519A>T (p.Ile1507Phe)
c.3715A>T (p.Ile1239Phe)
c.1573A>T (p.Ile525Phe)
c.487A>T (p.Ile163Phe)
c.4393A>T (p.Ile1465Phe)
1g.8355567T>CCA570751REREc.2857A>G (p.Ile953Val)
c.4519A>G (p.Ile1507Val)
c.3715A>G (p.Ile1239Val)
c.1573A>G (p.Ile525Val)
c.487A>G (p.Ile163Val)
c.4393A>G (p.Ile1465Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355567T>GCA338168309REREc.2857A>C (p.Ile953Leu)
c.4519A>C (p.Ile1507Leu)
c.3715A>C (p.Ile1239Leu)
c.1573A>C (p.Ile525Leu)
c.487A>C (p.Ile163Leu)
c.4393A>C (p.Ile1465Leu)
 gnomAD v4
1g.8355567T=CA1142097729REREc.2857A= (p.Ile953=)
c.4519A= (p.Ile1507=)
c.3715A= (p.Ile1239=)
c.1573A= (p.Ile525=)
c.487A= (p.Ile163=)
c.4393A= (p.Ile1465=)
1g.8355568G>ACA570752REREc.2856C>T (p.Ala952=)
c.4518C>T (p.Ala1506=)
c.3714C>T (p.Ala1238=)
c.1572C>T (p.Ala524=)
c.486C>T (p.Ala162=)
c.4392C>T (p.Ala1464=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355568G>CCA415842091REREc.2856C>G (p.Ala952=)
c.4518C>G (p.Ala1506=)
c.3714C>G (p.Ala1238=)
c.1572C>G (p.Ala524=)
c.486C>G (p.Ala162=)
c.4392C>G (p.Ala1464=)
1g.8355568G=CA1152318889REREc.2856C= (p.Ala952=)
c.4518C= (p.Ala1506=)
c.3714C= (p.Ala1238=)
c.1572C= (p.Ala524=)
c.486C= (p.Ala162=)
c.4392C= (p.Ala1464=)
1g.8355568G>TCA415842092REREc.2856C>A (p.Ala952=)
c.4518C>A (p.Ala1506=)
c.3714C>A (p.Ala1238=)
c.1572C>A (p.Ala524=)
c.486C>A (p.Ala162=)
c.4392C>A (p.Ala1464=)
 gnomAD v4
1g.8355569G>ACA570753REREc.2855C>T (p.Ala952Val)
c.4517C>T (p.Ala1506Val)
c.3713C>T (p.Ala1238Val)
c.1571C>T (p.Ala524Val)
c.485C>T (p.Ala162Val)
c.4391C>T (p.Ala1464Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355569G>CCA338168310REREc.2855C>G (p.Ala952Gly)
c.4517C>G (p.Ala1506Gly)
c.3713C>G (p.Ala1238Gly)
c.1571C>G (p.Ala524Gly)
c.485C>G (p.Ala162Gly)
c.4391C>G (p.Ala1464Gly)
1g.8355569G=CA1146365366REREc.2855C= (p.Ala952=)
c.4517C= (p.Ala1506=)
c.3713C= (p.Ala1238=)
c.1571C= (p.Ala524=)
c.485C= (p.Ala162=)
c.4391C= (p.Ala1464=)
1g.8355569G>TCA338168311REREc.2855C>A (p.Ala952Asp)
c.4517C>A (p.Ala1506Asp)
c.3713C>A (p.Ala1238Asp)
c.1571C>A (p.Ala524Asp)
c.485C>A (p.Ala162Asp)
c.4391C>A (p.Ala1464Asp)
 gnomAD v4
1g.8355570C>ACA338168313REREc.2854G>T (p.Ala952Ser)
c.4516G>T (p.Ala1506Ser)
c.3712G>T (p.Ala1238Ser)
c.1570G>T (p.Ala524Ser)
c.484G>T (p.Ala162Ser)
c.4390G>T (p.Ala1464Ser)
1g.8355570C=CA1149039647REREc.2854G= (p.Ala952=)
c.4516G= (p.Ala1506=)
c.3712G= (p.Ala1238=)
c.1570G= (p.Ala524=)
c.484G= (p.Ala162=)
c.4390G= (p.Ala1464=)
1g.8355570C>GCA338168312REREc.2854G>C (p.Ala952Pro)
c.4516G>C (p.Ala1506Pro)
c.3712G>C (p.Ala1238Pro)
c.1570G>C (p.Ala524Pro)
c.484G>C (p.Ala162Pro)
c.4390G>C (p.Ala1464Pro)
1g.8355570C>TCA570754REREc.2854G>A (p.Ala952Thr)
c.4516G>A (p.Ala1506Thr)
c.3712G>A (p.Ala1238Thr)
c.1570G>A (p.Ala524Thr)
c.484G>A (p.Ala162Thr)
c.4390G>A (p.Ala1464Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355573delCA2643072839REREc.2854del (p.Ala952ProfsTer?)
c.4516del (p.Ala1506ProfsTer?)
c.3712del (p.Ala1238ProfsTer?)
c.1570del (p.Ala524ProfsTer?)
c.484del (p.Ala162ProfsTer?)
c.4390del (p.Ala1464ProfsTer?)
 gnomAD v4
1g.8355571C>ACA570755REREc.2853G>T (p.Gly951=)
c.4515G>T (p.Gly1505=)
c.3711G>T (p.Gly1237=)
c.1569G>T (p.Gly523=)
c.483G>T (p.Gly161=)
c.4389G>T (p.Gly1463=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355571C=CA1141956728REREc.2853G= (p.Gly951=)
c.4515G= (p.Gly1505=)
c.3711G= (p.Gly1237=)
c.1569G= (p.Gly523=)
c.483G= (p.Gly161=)
c.4389G= (p.Gly1463=)
1g.8355571C>GCA415842093REREc.2853G>C (p.Gly951=)
c.4515G>C (p.Gly1505=)
c.3711G>C (p.Gly1237=)
c.1569G>C (p.Gly523=)
c.483G>C (p.Gly161=)
c.4389G>C (p.Gly1463=)
1g.8355571C>TCA415842094REREc.2853G>A (p.Gly951=)
c.4515G>A (p.Gly1505=)
c.3711G>A (p.Gly1237=)
c.1569G>A (p.Gly523=)
c.483G>A (p.Gly161=)
c.4389G>A (p.Gly1463=)
 dbSNP gnomAD v2 gnomAD v4
1g.8355572C>ACA338168316REREc.2852G>T (p.Gly951Val)
c.4514G>T (p.Gly1505Val)
c.3710G>T (p.Gly1237Val)
c.1568G>T (p.Gly523Val)
c.482G>T (p.Gly161Val)
c.4388G>T (p.Gly1463Val)
 gnomAD v4
1g.8355572C=CA1152318890REREc.2852G= (p.Gly951=)
c.4514G= (p.Gly1505=)
c.3710G= (p.Gly1237=)
c.1568G= (p.Gly523=)
c.482G= (p.Gly161=)
c.4388G= (p.Gly1463=)
1g.8355572C>GCA338168314REREc.2852G>C (p.Gly951Ala)
c.4514G>C (p.Gly1505Ala)
c.3710G>C (p.Gly1237Ala)
c.1568G>C (p.Gly523Ala)
c.482G>C (p.Gly161Ala)
c.4388G>C (p.Gly1463Ala)
 gnomAD v4
1g.8355572C>TCA338168315REREc.2852G>A (p.Gly951Glu)
c.4514G>A (p.Gly1505Glu)
c.3710G>A (p.Gly1237Glu)
c.1568G>A (p.Gly523Glu)
c.482G>A (p.Gly161Glu)
c.4388G>A (p.Gly1463Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.8355573C>ACA338168317REREc.2851G>T (p.Gly951Trp)
c.4513G>T (p.Gly1505Trp)
c.3709G>T (p.Gly1237Trp)
c.1567G>T (p.Gly523Trp)
c.481G>T (p.Gly161Trp)
c.4387G>T (p.Gly1463Trp)
 gnomAD v4
1g.8355573C=CA1152318891REREc.2851G= (p.Gly951=)
c.4513G= (p.Gly1505=)
c.3709G= (p.Gly1237=)
c.1567G= (p.Gly523=)
c.481G= (p.Gly161=)
c.4387G= (p.Gly1463=)
1g.8355573C>GCA338168318REREc.2851G>C (p.Gly951Arg)
c.4513G>C (p.Gly1505Arg)
c.3709G>C (p.Gly1237Arg)
c.1567G>C (p.Gly523Arg)
c.481G>C (p.Gly161Arg)
c.4387G>C (p.Gly1463Arg)
 dbSNP
1g.8355573C>TCA338168319REREc.2851G>A (p.Gly951Arg)
c.4513G>A (p.Gly1505Arg)
c.3709G>A (p.Gly1237Arg)
c.1567G>A (p.Gly523Arg)
c.481G>A (p.Gly161Arg)
c.4387G>A (p.Gly1463Arg)
 gnomAD v4
1g.8355574A>CCA415842096REREc.2850T>G (p.Pro950=)
c.4512T>G (p.Pro1504=)
c.3708T>G (p.Pro1236=)
c.1566T>G (p.Pro522=)
c.480T>G (p.Pro160=)
c.4386T>G (p.Pro1462=)
1g.8355574A>GCA415842097REREc.2850T>C (p.Pro950=)
c.4512T>C (p.Pro1504=)
c.3708T>C (p.Pro1236=)
c.1566T>C (p.Pro522=)
c.480T>C (p.Pro160=)
c.4386T>C (p.Pro1462=)
 gnomAD v4
1g.8355574A>TCA415842095REREc.2850T>A (p.Pro950=)
c.4512T>A (p.Pro1504=)
c.3708T>A (p.Pro1236=)
c.1566T>A (p.Pro522=)
c.480T>A (p.Pro160=)
c.4386T>A (p.Pro1462=)
1g.8355575G>ACA338168320REREc.2849C>T (p.Pro950Leu)
c.4511C>T (p.Pro1504Leu)
c.3707C>T (p.Pro1236Leu)
c.1565C>T (p.Pro522Leu)
c.479C>T (p.Pro160Leu)
c.4385C>T (p.Pro1462Leu)
1g.8355575G>CCA338168321REREc.2849C>G (p.Pro950Arg)
c.4511C>G (p.Pro1504Arg)
c.3707C>G (p.Pro1236Arg)
c.1565C>G (p.Pro522Arg)
c.479C>G (p.Pro160Arg)
c.4385C>G (p.Pro1462Arg)
1g.8355575G>TCA338168322REREc.2849C>A (p.Pro950His)
c.4511C>A (p.Pro1504His)
c.3707C>A (p.Pro1236His)
c.1565C>A (p.Pro522His)
c.479C>A (p.Pro160His)
c.4385C>A (p.Pro1462His)
1g.8355576G>ACA338168323REREc.2848C>T (p.Pro950Ser)
c.4510C>T (p.Pro1504Ser)
c.3706C>T (p.Pro1236Ser)
c.1564C>T (p.Pro522Ser)
c.478C>T (p.Pro160Ser)
c.4384C>T (p.Pro1462Ser)
 gnomAD v4
1g.8355576G>CCA338168324REREc.2848C>G (p.Pro950Ala)
c.4510C>G (p.Pro1504Ala)
c.3706C>G (p.Pro1236Ala)
c.1564C>G (p.Pro522Ala)
c.478C>G (p.Pro160Ala)
c.4384C>G (p.Pro1462Ala)
1g.8355576G>TCA338168325REREc.2848C>A (p.Pro950Thr)
c.4510C>A (p.Pro1504Thr)
c.3706C>A (p.Pro1236Thr)
c.1564C>A (p.Pro522Thr)
c.478C>A (p.Pro160Thr)
c.4384C>A (p.Pro1462Thr)
1g.8355577C>ACA415842099REREc.2847G>T (p.Leu949=)
c.4509G>T (p.Leu1503=)
c.3705G>T (p.Leu1235=)
c.1563G>T (p.Leu521=)
c.477G>T (p.Leu159=)
c.4383G>T (p.Leu1461=)
 dbSNP gnomAD v4
1g.8355577C=CA1152318892REREc.2847G= (p.Leu949=)
c.4509G= (p.Leu1503=)
c.3705G= (p.Leu1235=)
c.1563G= (p.Leu521=)
c.477G= (p.Leu159=)
c.4383G= (p.Leu1461=)
1g.8355577C>GCA415842100REREc.2847G>C (p.Leu949=)
c.4509G>C (p.Leu1503=)
c.3705G>C (p.Leu1235=)
c.1563G>C (p.Leu521=)
c.477G>C (p.Leu159=)
c.4383G>C (p.Leu1461=)
1g.8355577C>TCA415842101REREc.2847G>A (p.Leu949=)
c.4509G>A (p.Leu1503=)
c.3705G>A (p.Leu1235=)
c.1563G>A (p.Leu521=)
c.477G>A (p.Leu159=)
c.4383G>A (p.Leu1461=)
 dbSNP gnomAD v2 gnomAD v4
1g.8355578A=CA1152318893REREc.2846T= (p.Leu949=)
c.4508T= (p.Leu1503=)
c.3704T= (p.Leu1235=)
c.1562T= (p.Leu521=)
c.476T= (p.Leu159=)
c.4382T= (p.Leu1461=)
1g.8355578A>CCA338168328REREc.2846T>G (p.Leu949Arg)
c.4508T>G (p.Leu1503Arg)
c.3704T>G (p.Leu1235Arg)
c.1562T>G (p.Leu521Arg)
c.476T>G (p.Leu159Arg)
c.4382T>G (p.Leu1461Arg)
1g.8355578A>GCA338168327REREc.2846T>C (p.Leu949Pro)
c.4508T>C (p.Leu1503Pro)
c.3704T>C (p.Leu1235Pro)
c.1562T>C (p.Leu521Pro)
c.476T>C (p.Leu159Pro)
c.4382T>C (p.Leu1461Pro)
 gnomAD v4
1g.8355578A>TCA338168326REREc.2846T>A (p.Leu949Gln)
c.4508T>A (p.Leu1503Gln)
c.3704T>A (p.Leu1235Gln)
c.1562T>A (p.Leu521Gln)
c.476T>A (p.Leu159Gln)
c.4382T>A (p.Leu1461Gln)
1g.8355578_8355586delinsAGGTCACGGCA1152318894REREc.2838_2846delinsCCGTGACCT (p.Pro946=)
c.4500_4508delinsCCGTGACCT (p.Pro1500=)
c.3696_3704delinsCCGTGACCT (p.Pro1232=)
c.1554_1562delinsCCGTGACCT (p.Pro518=)
c.468_476delinsCCGTGACCT (p.Pro156=)
c.4374_4382delinsCCGTGACCT (p.Pro1458=)
1g.8355579G>ACA570757REREc.2845C>T (p.Leu949=)
c.4507C>T (p.Leu1503=)
c.3703C>T (p.Leu1235=)
c.1561C>T (p.Leu521=)
c.475C>T (p.Leu159=)
c.4381C>T (p.Leu1461=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355579G>CCA338168329REREc.2845C>G (p.Leu949Val)
c.4507C>G (p.Leu1503Val)
c.3703C>G (p.Leu1235Val)
c.1561C>G (p.Leu521Val)
c.475C>G (p.Leu159Val)
c.4381C>G (p.Leu1461Val)
1g.8355579G=CA1152318895REREc.2845C= (p.Leu949=)
c.4507C= (p.Leu1503=)
c.3703C= (p.Leu1235=)
c.1561C= (p.Leu521=)
c.475C= (p.Leu159=)
c.4381C= (p.Leu1461=)
1g.8355579G>TCA338168330REREc.2845C>A (p.Leu949Met)
c.4507C>A (p.Leu1503Met)
c.3703C>A (p.Leu1235Met)
c.1561C>A (p.Leu521Met)
c.475C>A (p.Leu159Met)
c.4381C>A (p.Leu1461Met)
1g.8355579_8355581dupCA570756REREc.2843_2845dup (p.Asp948_Leu949insHis)
c.4505_4507dup (p.Asp1502_Leu1503insHis)
c.3701_3703dup (p.Asp1234_Leu1235insHis)
c.1559_1561dup (p.Asp520_Leu521insHis)
c.473_475dup (p.Asp158_Leu159insHis)
c.4379_4381dup (p.Asp1460_Leu1461insHis)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355581_8355588delCA1152318896REREc.2838_2845del (p.Arg947AlafsTer?)
c.4500_4507del (p.Arg1501AlafsTer?)
c.3696_3703del (p.Arg1233AlafsTer?)
c.1554_1561del (p.Arg519AlafsTer?)
c.468_475del (p.Arg157AlafsTer?)
c.4374_4381del (p.Arg1459AlafsTer?)
 dbSNP
1g.8355580G>ACA415842105REREc.2844C>T (p.Asp948=)
c.4506C>T (p.Asp1502=)
c.3702C>T (p.Asp1234=)
c.1560C>T (p.Asp520=)
c.474C>T (p.Asp158=)
c.4380C>T (p.Asp1460=)
 dbSNP gnomAD v4
1g.8355580G>CCA338168331REREc.2844C>G (p.Asp948Glu)
c.4506C>G (p.Asp1502Glu)
c.3702C>G (p.Asp1234Glu)
c.1560C>G (p.Asp520Glu)
c.474C>G (p.Asp158Glu)
c.4380C>G (p.Asp1460Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.8355580G=CA1152318897REREc.2844C= (p.Asp948=)
c.4506C= (p.Asp1502=)
c.3702C= (p.Asp1234=)
c.1560C= (p.Asp520=)
c.474C= (p.Asp158=)
c.4380C= (p.Asp1460=)
1g.8355580G>TCA338168332REREc.2844C>A (p.Asp948Glu)
c.4506C>A (p.Asp1502Glu)
c.3702C>A (p.Asp1234Glu)
c.1560C>A (p.Asp520Glu)
c.474C>A (p.Asp158Glu)
c.4380C>A (p.Asp1460Glu)
 gnomAD v4
1g.8355581T>ACA338168333REREc.2843A>T (p.Asp948Val)
c.4505A>T (p.Asp1502Val)
c.3701A>T (p.Asp1234Val)
c.1559A>T (p.Asp520Val)
c.473A>T (p.Asp158Val)
c.4379A>T (p.Asp1460Val)
1g.8355581T>CCA338168334REREc.2843A>G (p.Asp948Gly)
c.4505A>G (p.Asp1502Gly)
c.3701A>G (p.Asp1234Gly)
c.1559A>G (p.Asp520Gly)
c.473A>G (p.Asp158Gly)
c.4379A>G (p.Asp1460Gly)
1g.8355581T>GCA338168335REREc.2843A>C (p.Asp948Ala)
c.4505A>C (p.Asp1502Ala)
c.3701A>C (p.Asp1234Ala)
c.1559A>C (p.Asp520Ala)
c.473A>C (p.Asp158Ala)
c.4379A>C (p.Asp1460Ala)
1g.8355582C>ACA338168336REREc.2842G>T (p.Asp948Tyr)
c.4504G>T (p.Asp1502Tyr)
c.3700G>T (p.Asp1234Tyr)
c.1558G>T (p.Asp520Tyr)
c.472G>T (p.Asp158Tyr)
c.4378G>T (p.Asp1460Tyr)
 gnomAD v4
1g.8355582C>GCA338168337REREc.2842G>C (p.Asp948His)
c.4504G>C (p.Asp1502His)
c.3700G>C (p.Asp1234His)
c.1558G>C (p.Asp520His)
c.472G>C (p.Asp158His)
c.4378G>C (p.Asp1460His)
1g.8355582C>TCA338168338REREc.2842G>A (p.Asp948Asn)
c.4504G>A (p.Asp1502Asn)
c.3700G>A (p.Asp1234Asn)
c.1558G>A (p.Asp520Asn)
c.472G>A (p.Asp158Asn)
c.4378G>A (p.Asp1460Asn)
1g.8355583A>CCA415842107REREc.2841T>G (p.Arg947=)
c.4503T>G (p.Arg1501=)
c.3699T>G (p.Arg1233=)
c.1557T>G (p.Arg519=)
c.471T>G (p.Arg157=)
c.4377T>G (p.Arg1459=)
1g.8355583A>GCA415842108REREc.2841T>C (p.Arg947=)
c.4503T>C (p.Arg1501=)
c.3699T>C (p.Arg1233=)
c.1557T>C (p.Arg519=)
c.471T>C (p.Arg157=)
c.4377T>C (p.Arg1459=)
1g.8355583A>TCA415842110REREc.2841T>A (p.Arg947=)
c.4503T>A (p.Arg1501=)
c.3699T>A (p.Arg1233=)
c.1557T>A (p.Arg519=)
c.471T>A (p.Arg157=)
c.4377T>A (p.Arg1459=)
1g.8355584C>ACA338168340REREc.2840G>T (p.Arg947Leu)
c.4502G>T (p.Arg1501Leu)
c.3698G>T (p.Arg1233Leu)
c.1556G>T (p.Arg519Leu)
c.470G>T (p.Arg157Leu)
c.4376G>T (p.Arg1459Leu)
 gnomAD v4
1g.8355584C=CA1152318898REREc.2840G= (p.Arg947=)
c.4502G= (p.Arg1501=)
c.3698G= (p.Arg1233=)
c.1556G= (p.Arg519=)
c.470G= (p.Arg157=)
c.4376G= (p.Arg1459=)
1g.8355584C>GCA338168341REREc.2840G>C (p.Arg947Pro)
c.4502G>C (p.Arg1501Pro)
c.3698G>C (p.Arg1233Pro)
c.1556G>C (p.Arg519Pro)
c.470G>C (p.Arg157Pro)
c.4376G>C (p.Arg1459Pro)
 gnomAD v4 COSMIC
1g.8355584C>TCA338168339REREc.2840G>A (p.Arg947His)
c.4502G>A (p.Arg1501His)
c.3698G>A (p.Arg1233His)
c.1556G>A (p.Arg519His)
c.470G>A (p.Arg157His)
c.4376G>A (p.Arg1459His)
 dbSNP gnomAD v4
1g.8355585G>ACA338168342REREc.2839C>T (p.Arg947Cys)
c.4501C>T (p.Arg1501Cys)
c.3697C>T (p.Arg1233Cys)
c.1555C>T (p.Arg519Cys)
c.469C>T (p.Arg157Cys)
c.4375C>T (p.Arg1459Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.8355585G>CCA338168343REREc.2839C>G (p.Arg947Gly)
c.4501C>G (p.Arg1501Gly)
c.3697C>G (p.Arg1233Gly)
c.1555C>G (p.Arg519Gly)
c.469C>G (p.Arg157Gly)
c.4375C>G (p.Arg1459Gly)
1g.8355585G=CA1152318899REREc.2839C= (p.Arg947=)
c.4501C= (p.Arg1501=)
c.3697C= (p.Arg1233=)
c.1555C= (p.Arg519=)
c.469C= (p.Arg157=)
c.4375C= (p.Arg1459=)
1g.8355585G>TCA338168344REREc.2839C>A (p.Arg947Ser)
c.4501C>A (p.Arg1501Ser)
c.3697C>A (p.Arg1233Ser)
c.1555C>A (p.Arg519Ser)
c.469C>A (p.Arg157Ser)
c.4375C>A (p.Arg1459Ser)
 gnomAD v4
1g.8355589delCA2643072840REREc.2839del (p.Arg947ValfsTer?)
c.4501del (p.Arg1501ValfsTer?)
c.3697del (p.Arg1233ValfsTer?)
c.1555del (p.Arg519ValfsTer?)
c.469del (p.Arg157ValfsTer?)
c.4375del (p.Arg1459ValfsTer?)
 gnomAD v4
1g.8355586G>ACA415842113REREc.2838C>T (p.Pro946=)
c.4500C>T (p.Pro1500=)
c.3696C>T (p.Pro1232=)
c.1554C>T (p.Pro518=)
c.468C>T (p.Pro156=)
c.4374C>T (p.Pro1458=)
1g.8355586G>CCA415842114REREc.2838C>G (p.Pro946=)
c.4500C>G (p.Pro1500=)
c.3696C>G (p.Pro1232=)
c.1554C>G (p.Pro518=)
c.468C>G (p.Pro156=)
c.4374C>G (p.Pro1458=)
1g.8355586G>TCA415842115REREc.2838C>A (p.Pro946=)
c.4500C>A (p.Pro1500=)
c.3696C>A (p.Pro1232=)
c.1554C>A (p.Pro518=)
c.468C>A (p.Pro156=)
c.4374C>A (p.Pro1458=)
 gnomAD v4
1g.8355587G>ACA338168345REREc.2837C>T (p.Pro946Leu)
c.4499C>T (p.Pro1500Leu)
c.3695C>T (p.Pro1232Leu)
c.1553C>T (p.Pro518Leu)
c.467C>T (p.Pro156Leu)
c.4373C>T (p.Pro1458Leu)
1g.8355587G>CCA338168346REREc.2837C>G (p.Pro946Arg)
c.4499C>G (p.Pro1500Arg)
c.3695C>G (p.Pro1232Arg)
c.1553C>G (p.Pro518Arg)
c.467C>G (p.Pro156Arg)
c.4373C>G (p.Pro1458Arg)
1g.8355587G>TCA338168347REREc.2837C>A (p.Pro946His)
c.4499C>A (p.Pro1500His)
c.3695C>A (p.Pro1232His)
c.1553C>A (p.Pro518His)
c.467C>A (p.Pro156His)
c.4373C>A (p.Pro1458His)
 gnomAD v4
1g.8355588G>ACA338168349REREc.2836C>T (p.Pro946Ser)
c.4498C>T (p.Pro1500Ser)
c.3694C>T (p.Pro1232Ser)
c.1552C>T (p.Pro518Ser)
c.466C>T (p.Pro156Ser)
c.4372C>T (p.Pro1458Ser)
 gnomAD v4
1g.8355588G>CCA17687219REREc.2836C>G (p.Pro946Ala)
c.4498C>G (p.Pro1500Ala)
c.3694C>G (p.Pro1232Ala)
c.1552C>G (p.Pro518Ala)
c.466C>G (p.Pro156Ala)
c.4372C>G (p.Pro1458Ala)
 dbSNP gnomAD v4
1g.8355588G=CA1152318900REREc.2836C= (p.Pro946=)
c.4498C= (p.Pro1500=)
c.3694C= (p.Pro1232=)
c.1552C= (p.Pro518=)
c.466C= (p.Pro156=)
c.4372C= (p.Pro1458=)
1g.8355588G>TCA338168348REREc.2836C>A (p.Pro946Thr)
c.4498C>A (p.Pro1500Thr)
c.3694C>A (p.Pro1232Thr)
c.1552C>A (p.Pro518Thr)
c.466C>A (p.Pro156Thr)
c.4372C>A (p.Pro1458Thr)
 gnomAD v4
1g.8355589G>ACA415842118REREc.2835C>T (p.Tyr945=)
c.4497C>T (p.Tyr1499=)
c.3693C>T (p.Tyr1231=)
c.1551C>T (p.Tyr517=)
c.465C>T (p.Tyr155=)
c.4371C>T (p.Tyr1457=)
 gnomAD v4
1g.8355589G>CCA338168350REREc.2835C>G (p.Tyr945Ter)
c.4497C>G (p.Tyr1499Ter)
c.3693C>G (p.Tyr1231Ter)
c.1551C>G (p.Tyr517Ter)
c.465C>G (p.Tyr155Ter)
c.4371C>G (p.Tyr1457Ter)
1g.8355589G>TCA338168351REREc.2835C>A (p.Tyr945Ter)
c.4497C>A (p.Tyr1499Ter)
c.3693C>A (p.Tyr1231Ter)
c.1551C>A (p.Tyr517Ter)
c.465C>A (p.Tyr155Ter)
c.4371C>A (p.Tyr1457Ter)
 gnomAD v4
1g.8355590T>ACA338168352REREc.2834A>T (p.Tyr945Phe)
c.4496A>T (p.Tyr1499Phe)
c.3692A>T (p.Tyr1231Phe)
c.1550A>T (p.Tyr517Phe)
c.464A>T (p.Tyr155Phe)
c.4370A>T (p.Tyr1457Phe)
1g.8355590T>CCA338168353REREc.2834A>G (p.Tyr945Cys)
c.4496A>G (p.Tyr1499Cys)
c.3692A>G (p.Tyr1231Cys)
c.1550A>G (p.Tyr517Cys)
c.464A>G (p.Tyr155Cys)
c.4370A>G (p.Tyr1457Cys)
 gnomAD v4
1g.8355590T>GCA338168354REREc.2834A>C (p.Tyr945Ser)
c.4496A>C (p.Tyr1499Ser)
c.3692A>C (p.Tyr1231Ser)
c.1550A>C (p.Tyr517Ser)
c.464A>C (p.Tyr155Ser)
c.4370A>C (p.Tyr1457Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.8355590T=CA1152318901REREc.2834A= (p.Tyr945=)
c.4496A= (p.Tyr1499=)
c.3692A= (p.Tyr1231=)
c.1550A= (p.Tyr517=)
c.464A= (p.Tyr155=)
c.4370A= (p.Tyr1457=)
1g.8355591A>CCA338168355REREc.2833T>G (p.Tyr945Asp)
c.4495T>G (p.Tyr1499Asp)
c.3691T>G (p.Tyr1231Asp)
c.1549T>G (p.Tyr517Asp)
c.463T>G (p.Tyr155Asp)
c.4369T>G (p.Tyr1457Asp)
1g.8355591A>GCA338168357REREc.2833T>C (p.Tyr945His)
c.4495T>C (p.Tyr1499His)
c.3691T>C (p.Tyr1231His)
c.1549T>C (p.Tyr517His)
c.463T>C (p.Tyr155His)
c.4369T>C (p.Tyr1457His)
1g.8355591A>TCA338168356REREc.2833T>A (p.Tyr945Asn)
c.4495T>A (p.Tyr1499Asn)
c.3691T>A (p.Tyr1231Asn)
c.1549T>A (p.Tyr517Asn)
c.463T>A (p.Tyr155Asn)
c.4369T>A (p.Tyr1457Asn)
1g.8355592G>ACA415842119REREc.2832C>T (p.Pro944=)
c.4494C>T (p.Pro1498=)
c.3690C>T (p.Pro1230=)
c.1548C>T (p.Pro516=)
c.462C>T (p.Pro154=)
c.4368C>T (p.Pro1456=)
 gnomAD v4
1g.8355592G>CCA415842120REREc.2832C>G (p.Pro944=)
c.4494C>G (p.Pro1498=)
c.3690C>G (p.Pro1230=)
c.1548C>G (p.Pro516=)
c.462C>G (p.Pro154=)
c.4368C>G (p.Pro1456=)
1g.8355592G>TCA415842121REREc.2832C>A (p.Pro944=)
c.4494C>A (p.Pro1498=)
c.3690C>A (p.Pro1230=)
c.1548C>A (p.Pro516=)
c.462C>A (p.Pro154=)
c.4368C>A (p.Pro1456=)
 gnomAD v4
1g.8355596dupCA2643072842REREc.2832dup (p.Tyr945LeufsTer4)
c.4494dup (p.Tyr1499LeufsTer4)
c.3690dup (p.Tyr1231LeufsTer4)
c.1548dup (p.Tyr517LeufsTer4)
c.462dup (p.Tyr155LeufsTer4)
c.4368dup (p.Tyr1457LeufsTer4)
 gnomAD v4
1g.8355596delCA2643072841REREc.2832del (p.Tyr945ThrfsTer?)
c.4494del (p.Tyr1499ThrfsTer?)
c.3690del (p.Tyr1231ThrfsTer?)
c.1548del (p.Tyr517ThrfsTer?)
c.462del (p.Tyr155ThrfsTer?)
c.4368del (p.Tyr1457ThrfsTer?)
 gnomAD v4
1g.8355593G>ACA338168358REREc.2831C>T (p.Pro944Leu)
c.4493C>T (p.Pro1498Leu)
c.3689C>T (p.Pro1230Leu)
c.1547C>T (p.Pro516Leu)
c.461C>T (p.Pro154Leu)
c.4367C>T (p.Pro1456Leu)
1g.8355593G>CCA338168359REREc.2831C>G (p.Pro944Arg)
c.4493C>G (p.Pro1498Arg)
c.3689C>G (p.Pro1230Arg)
c.1547C>G (p.Pro516Arg)
c.461C>G (p.Pro154Arg)
c.4367C>G (p.Pro1456Arg)
 gnomAD v4
1g.8355593G=CA1144092995REREc.2831C= (p.Pro944=)
c.4493C= (p.Pro1498=)
c.3689C= (p.Pro1230=)
c.1547C= (p.Pro516=)
c.461C= (p.Pro154=)
c.4367C= (p.Pro1456=)
1g.8355593G>TCA570758REREc.2831C>A (p.Pro944His)
c.4493C>A (p.Pro1498His)
c.3689C>A (p.Pro1230His)
c.1547C>A (p.Pro516His)
c.461C>A (p.Pro154His)
c.4367C>A (p.Pro1456His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355594G>ACA338168360REREc.2830C>T (p.Pro944Ser)
c.4492C>T (p.Pro1498Ser)
c.3688C>T (p.Pro1230Ser)
c.1546C>T (p.Pro516Ser)
c.460C>T (p.Pro154Ser)
c.4366C>T (p.Pro1456Ser)
1g.8355594G>CCA338168361REREc.2830C>G (p.Pro944Ala)
c.4492C>G (p.Pro1498Ala)
c.3688C>G (p.Pro1230Ala)
c.1546C>G (p.Pro516Ala)
c.460C>G (p.Pro154Ala)
c.4366C>G (p.Pro1456Ala)
 gnomAD v4
1g.8355594G>TCA338168362REREc.2830C>A (p.Pro944Thr)
c.4492C>A (p.Pro1498Thr)
c.3688C>A (p.Pro1230Thr)
c.1546C>A (p.Pro516Thr)
c.460C>A (p.Pro154Thr)
c.4366C>A (p.Pro1456Thr)
 gnomAD v4
1g.8355595G>ACA415842122REREc.2829C>T (p.Thr943=)
c.4491C>T (p.Thr1497=)
c.3687C>T (p.Thr1229=)
c.1545C>T (p.Thr515=)
c.459C>T (p.Thr153=)
c.4365C>T (p.Thr1455=)
 gnomAD v4
1g.8355595G>CCA415842123REREc.2829C>G (p.Thr943=)
c.4491C>G (p.Thr1497=)
c.3687C>G (p.Thr1229=)
c.1545C>G (p.Thr515=)
c.459C>G (p.Thr153=)
c.4365C>G (p.Thr1455=)
1g.8355595G=CA1152318902REREc.2829C= (p.Thr943=)
c.4491C= (p.Thr1497=)
c.3687C= (p.Thr1229=)
c.1545C= (p.Thr515=)
c.459C= (p.Thr153=)
c.4365C= (p.Thr1455=)
1g.8355595G>TCA570759REREc.2829C>A (p.Thr943=)
c.4491C>A (p.Thr1497=)
c.3687C>A (p.Thr1229=)
c.1545C>A (p.Thr515=)
c.459C>A (p.Thr153=)
c.4365C>A (p.Thr1455=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355596G>ACA338168363REREc.2828C>T (p.Thr943Ile)
c.4490C>T (p.Thr1497Ile)
c.3686C>T (p.Thr1229Ile)
c.1544C>T (p.Thr515Ile)
c.458C>T (p.Thr153Ile)
c.4364C>T (p.Thr1455Ile)
 gnomAD v4
1g.8355596G>CCA338168364REREc.2828C>G (p.Thr943Ser)
c.4490C>G (p.Thr1497Ser)
c.3686C>G (p.Thr1229Ser)
c.1544C>G (p.Thr515Ser)
c.458C>G (p.Thr153Ser)
c.4364C>G (p.Thr1455Ser)
1g.8355596G=CA1152318903REREc.2828C= (p.Thr943=)
c.4490C= (p.Thr1497=)
c.3686C= (p.Thr1229=)
c.1544C= (p.Thr515=)
c.458C= (p.Thr153=)
c.4364C= (p.Thr1455=)
1g.8355596G>TCA338168365REREc.2828C>A (p.Thr943Asn)
c.4490C>A (p.Thr1497Asn)
c.3686C>A (p.Thr1229Asn)
c.1544C>A (p.Thr515Asn)
c.458C>A (p.Thr153Asn)
c.4364C>A (p.Thr1455Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355597T>ACA338168366REREc.2827A>T (p.Thr943Ser)
c.4489A>T (p.Thr1497Ser)
c.3685A>T (p.Thr1229Ser)
c.1543A>T (p.Thr515Ser)
c.457A>T (p.Thr153Ser)
c.4363A>T (p.Thr1455Ser)
1g.8355597T>CCA338168367REREc.2827A>G (p.Thr943Ala)
c.4489A>G (p.Thr1497Ala)
c.3685A>G (p.Thr1229Ala)
c.1543A>G (p.Thr515Ala)
c.457A>G (p.Thr153Ala)
c.4363A>G (p.Thr1455Ala)
 gnomAD v4
1g.8355597T>GCA338168368REREc.2827A>C (p.Thr943Pro)
c.4489A>C (p.Thr1497Pro)
c.3685A>C (p.Thr1229Pro)
c.1543A>C (p.Thr515Pro)
c.457A>C (p.Thr153Pro)
c.4363A>C (p.Thr1455Pro)
 ClinVar dbSNP gnomAD v4
1g.8355597T=CA1152318904REREc.2827A= (p.Thr943=)
c.4489A= (p.Thr1497=)
c.3685A= (p.Thr1229=)
c.1543A= (p.Thr515=)
c.457A= (p.Thr153=)
c.4363A= (p.Thr1455=)
1g.8355598G>ACA415842124REREc.2826C>T (p.Gly942=)
c.4488C>T (p.Gly1496=)
c.3684C>T (p.Gly1228=)
c.1542C>T (p.Ser514=)
c.456C>T (p.Gly152=)
c.4362C>T (p.Gly1454=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.8355598G>CCA338168370REREc.2826C>G (p.Gly942=)
c.4488C>G (p.Gly1496=)
c.3684C>G (p.Gly1228=)
c.1542C>G (p.Ser514Arg)
c.456C>G (p.Gly152=)
c.4362C>G (p.Gly1454=)
1g.8355598G=CA1152318905REREc.2826C= (p.Gly942=)
c.4488C= (p.Gly1496=)
c.3684C= (p.Gly1228=)
c.1542C= (p.Ser514=)
c.456C= (p.Gly152=)
c.4362C= (p.Gly1454=)
1g.8355598G>TCA338168369REREc.2826C>A (p.Gly942=)
c.4488C>A (p.Gly1496=)
c.3684C>A (p.Gly1228=)
c.1542C>A (p.Ser514Arg)
c.456C>A (p.Gly152=)
c.4362C>A (p.Gly1454=)
 dbSNP gnomAD v4
1g.8355599C>ACA338168371REREc.2825G>T (p.Gly942Val)
c.4487G>T (p.Gly1496Val)
c.3683G>T (p.Gly1228Val)
c.1541G>T (p.Ser514Ile)
c.455G>T (p.Gly152Val)
c.4361G>T (p.Gly1454Val)
 gnomAD v4
1g.8355599C>GCA338168373REREc.2825G>C (p.Gly942Ala)
c.4487G>C (p.Gly1496Ala)
c.3683G>C (p.Gly1228Ala)
c.1541G>C (p.Ser514Thr)
c.455G>C (p.Gly152Ala)
c.4361G>C (p.Gly1454Ala)
1g.8355599C>TCA338168372REREc.2825G>A (p.Gly942Asp)
c.4487G>A (p.Gly1496Asp)
c.3683G>A (p.Gly1228Asp)
c.1541G>A (p.Ser514Asn)
c.455G>A (p.Gly152Asp)
c.4361G>A (p.Gly1454Asp)
 gnomAD v4
1g.8355600C>ACA338168374REREc.2825-1G>T (n.2825-1G>T)
c.4487-1G>T (n.4487-1G>T)
c.3683-1G>T (n.3683-1G>T)
c.1541-1G>T (n.1541-1G>T)
c.455-1G>T (n.455-1G>T)
c.4361-1G>T (n.4361-1G>T)
1g.8355600C>GCA338168376REREc.2825-1G>C (n.2825-1G>C)
c.4487-1G>C (n.4487-1G>C)
c.3683-1G>C (n.3683-1G>C)
c.1541-1G>C (n.1541-1G>C)
c.455-1G>C (n.455-1G>C)
c.4361-1G>C (n.4361-1G>C)
1g.8355600C>TCA338168375REREc.2825-1G>A (n.2825-1G>A)
c.4487-1G>A (n.4487-1G>A)
c.3683-1G>A (n.3683-1G>A)
c.1541-1G>A (n.1541-1G>A)
c.455-1G>A (n.455-1G>A)
c.4361-1G>A (n.4361-1G>A)
1g.8355601T>ACA338168377REREc.2825-2A>T (n.2825-2A>T)
c.4487-2A>T (n.4487-2A>T)
c.3683-2A>T (n.3683-2A>T)
c.1541-2A>T (n.1541-2A>T)
c.455-2A>T (n.455-2A>T)
c.4361-2A>T (n.4361-2A>T)
1g.8355601T>CCA338168379REREc.2825-2A>G (n.2825-2A>G)
c.4487-2A>G (n.4487-2A>G)
c.3683-2A>G (n.3683-2A>G)
c.1541-2A>G (n.1541-2A>G)
c.455-2A>G (n.455-2A>G)
c.4361-2A>G (n.4361-2A>G)
1g.8355601T>GCA338168378REREc.2825-2A>C (n.2825-2A>C)
c.4487-2A>C (n.4487-2A>C)
c.3683-2A>C (n.3683-2A>C)
c.1541-2A>C (n.1541-2A>C)
c.455-2A>C (n.455-2A>C)
c.4361-2A>C (n.4361-2A>C)
1g.8355602G>ACA2643072843REREc.2825-3C>T (n.2825-3C>T)
c.4487-3C>T (n.4487-3C>T)
c.3683-3C>T (n.3683-3C>T)
c.1541-3C>T (n.1541-3C>T)
c.455-3C>T (n.455-3C>T)
c.4361-3C>T (n.4361-3C>T)
 gnomAD v4
1g.8355602G>TCA2643072844REREc.2825-3C>A (n.2825-3C>A)
c.4487-3C>A (n.4487-3C>A)
c.3683-3C>A (n.3683-3C>A)
c.1541-3C>A (n.1541-3C>A)
c.455-3C>A (n.455-3C>A)
c.4361-3C>A (n.4361-3C>A)
 gnomAD v4
1g.8355603C=CA1152318906REREc.2825-4G= (n.2825-4G=)
c.4487-4G= (n.4487-4G=)
c.3683-4G= (n.3683-4G=)
c.1541-4G= (n.1541-4G=)
c.455-4G= (n.455-4G=)
c.4361-4G= (n.4361-4G=)
1g.8355603C>GCA2574344434REREc.2825-4G>C (n.2825-4G>C)
c.4487-4G>C (n.4487-4G>C)
c.3683-4G>C (n.3683-4G>C)
c.1541-4G>C (n.1541-4G>C)
c.455-4G>C (n.455-4G>C)
c.4361-4G>C (n.4361-4G>C)
1g.8355603C>TCA521020203REREc.2825-4G>A (n.2825-4G>A)
c.4487-4G>A (n.4487-4G>A)
c.3683-4G>A (n.3683-4G>A)
c.1541-4G>A (n.1541-4G>A)
c.455-4G>A (n.455-4G>A)
c.4361-4G>A (n.4361-4G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.8355604C>ACA570760REREc.2825-5G>T (n.2825-5G>T)
c.4487-5G>T (n.4487-5G>T)
c.3683-5G>T (n.3683-5G>T)
c.1541-5G>T (n.1541-5G>T)
c.455-5G>T (n.455-5G>T)
c.4361-5G>T (n.4361-5G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355604C=CA1152318907REREc.2825-5G= (n.2825-5G=)
c.4487-5G= (n.4487-5G=)
c.3683-5G= (n.3683-5G=)
c.1541-5G= (n.1541-5G=)
c.455-5G= (n.455-5G=)
c.4361-5G= (n.4361-5G=)
1g.8355604C>GCA998362975REREc.2825-5G>C (n.2825-5G>C)
c.4487-5G>C (n.4487-5G>C)
c.3683-5G>C (n.3683-5G>C)
c.1541-5G>C (n.1541-5G>C)
c.455-5G>C (n.455-5G>C)
c.4361-5G>C (n.4361-5G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.8355604C>TCA570761REREc.2825-5G>A (n.2825-5G>A)
c.4487-5G>A (n.4487-5G>A)
c.3683-5G>A (n.3683-5G>A)
c.1541-5G>A (n.1541-5G>A)
c.455-5G>A (n.455-5G>A)
c.4361-5G>A (n.4361-5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355605G>ACA17687230REREc.2825-6C>T (n.2825-6C>T)
c.4487-6C>T (n.4487-6C>T)
c.3683-6C>T (n.3683-6C>T)
c.1541-6C>T (n.1541-6C>T)
c.455-6C>T (n.455-6C>T)
c.4361-6C>T (n.4361-6C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355605G>CCA2643072845REREc.2825-6C>G (n.2825-6C>G)
c.4487-6C>G (n.4487-6C>G)
c.3683-6C>G (n.3683-6C>G)
c.1541-6C>G (n.1541-6C>G)
c.455-6C>G (n.455-6C>G)
c.4361-6C>G (n.4361-6C>G)
 gnomAD v4
1g.8355605G=CA1147660645REREc.2825-6C= (n.2825-6C=)
c.4487-6C= (n.4487-6C=)
c.3683-6C= (n.3683-6C=)
c.1541-6C= (n.1541-6C=)
c.455-6C= (n.455-6C=)
c.4361-6C= (n.4361-6C=)
1g.8355605G>TCA2643072846REREc.2825-6C>A (n.2825-6C>A)
c.4487-6C>A (n.4487-6C>A)
c.3683-6C>A (n.3683-6C>A)
c.1541-6C>A (n.1541-6C>A)
c.455-6C>A (n.455-6C>A)
c.4361-6C>A (n.4361-6C>A)
 gnomAD v4
1g.8355606A=CA1152318908REREc.2825-7T= (n.2825-7T=)
c.4487-7T= (n.4487-7T=)
c.3683-7T= (n.3683-7T=)
c.1541-7T= (n.1541-7T=)
c.455-7T= (n.455-7T=)
c.4361-7T= (n.4361-7T=)
1g.8355606A>GCA1152318909REREc.2825-7T>C (n.2825-7T>C)
c.4487-7T>C (n.4487-7T>C)
c.3683-7T>C (n.3683-7T>C)
c.1541-7T>C (n.1541-7T>C)
c.455-7T>C (n.455-7T>C)
c.4361-7T>C (n.4361-7T>C)
 dbSNP gnomAD v4
1g.8355606A>TCA2643072847REREc.2825-7T>A (n.2825-7T>A)
c.4487-7T>A (n.4487-7T>A)
c.3683-7T>A (n.3683-7T>A)
c.1541-7T>A (n.1541-7T>A)
c.455-7T>A (n.455-7T>A)
c.4361-7T>A (n.4361-7T>A)
 gnomAD v4
1g.8355608C>ACA2643072848REREc.2825-9G>T (n.2825-9G>T)
c.4487-9G>T (n.4487-9G>T)
c.3683-9G>T (n.3683-9G>T)
c.1541-9G>T (n.1541-9G>T)
c.455-9G>T (n.455-9G>T)
c.4361-9G>T (n.4361-9G>T)
 gnomAD v4
1g.8355608C=CA1152318910REREc.2825-9G= (n.2825-9G=)
c.4487-9G= (n.4487-9G=)
c.3683-9G= (n.3683-9G=)
c.1541-9G= (n.1541-9G=)
c.455-9G= (n.455-9G=)
c.4361-9G= (n.4361-9G=)
1g.8355608C>TCA521020204REREc.2825-9G>A (n.2825-9G>A)
c.4487-9G>A (n.4487-9G>A)
c.3683-9G>A (n.3683-9G>A)
c.1541-9G>A (n.1541-9G>A)
c.455-9G>A (n.455-9G>A)
c.4361-9G>A (n.4361-9G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.8355610C>ACA2643072849REREc.2825-11G>T (n.2825-11G>T)
c.4487-11G>T (n.4487-11G>T)
c.3683-11G>T (n.3683-11G>T)
c.1541-11G>T (n.1541-11G>T)
c.455-11G>T (n.455-11G>T)
c.4361-11G>T (n.4361-11G>T)
 gnomAD v4
1g.8355610_8355611delinsCACA1152318911REREc.2825-12_2825-11delinsTG (n.2825-12_2825-11delinsTG)
c.4487-12_4487-11delinsTG (n.4487-12_4487-11delinsTG)
c.3683-12_3683-11delinsTG (n.3683-12_3683-11delinsTG)
c.1541-12_1541-11delinsTG (n.1541-12_1541-11delinsTG)
c.455-12_455-11delinsTG (n.455-12_455-11delinsTG)
c.4361-12_4361-11delinsTG (n.4361-12_4361-11delinsTG)
1g.8355611A>GCA2643072850REREc.2825-12T>C (n.2825-12T>C)
c.4487-12T>C (n.4487-12T>C)
c.3683-12T>C (n.3683-12T>C)
c.1541-12T>C (n.1541-12T>C)
c.455-12T>C (n.455-12T>C)
c.4361-12T>C (n.4361-12T>C)
 gnomAD v4
1g.8355614delCA521020205REREc.2825-12del (n.2825-12del)
c.4487-12del (n.4487-12del)
c.3683-12del (n.3683-12del)
c.1541-12del (n.1541-12del)
c.455-12del (n.455-12del)
c.4361-12del (n.4361-12del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355612A=CA1152318912REREc.2825-13T= (n.2825-13T=)
c.4487-13T= (n.4487-13T=)
c.3683-13T= (n.3683-13T=)
c.1541-13T= (n.1541-13T=)
c.455-13T= (n.455-13T=)
c.4361-13T= (n.4361-13T=)
1g.8355612A>GCA998362984REREc.2825-13T>C (n.2825-13T>C)
c.4487-13T>C (n.4487-13T>C)
c.3683-13T>C (n.3683-13T>C)
c.1541-13T>C (n.1541-13T>C)
c.455-13T>C (n.455-13T>C)
c.4361-13T>C (n.4361-13T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.8355615C>TCA2643072851REREc.2825-16G>A (n.2825-16G>A)
c.4487-16G>A (n.4487-16G>A)
c.3683-16G>A (n.3683-16G>A)
c.1541-16G>A (n.1541-16G>A)
c.455-16G>A (n.455-16G>A)
c.4361-16G>A (n.4361-16G>A)
 gnomAD v4
1g.8355616A=CA1143663189REREc.2825-17T= (n.2825-17T=)
c.4487-17T= (n.4487-17T=)
c.3683-17T= (n.3683-17T=)
c.1541-17T= (n.1541-17T=)
c.455-17T= (n.455-17T=)
c.4361-17T= (n.4361-17T=)
1g.8355616A>CCA570762REREc.2825-17T>G (n.2825-17T>G)
c.4487-17T>G (n.4487-17T>G)
c.3683-17T>G (n.3683-17T>G)
c.1541-17T>G (n.1541-17T>G)
c.455-17T>G (n.455-17T>G)
c.4361-17T>G (n.4361-17T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355616A>TCA2643072852REREc.2825-17T>A (n.2825-17T>A)
c.4487-17T>A (n.4487-17T>A)
c.3683-17T>A (n.3683-17T>A)
c.1541-17T>A (n.1541-17T>A)
c.455-17T>A (n.455-17T>A)
c.4361-17T>A (n.4361-17T>A)
 gnomAD v4
1g.8355617A>CCA2643072853REREc.2825-18T>G (n.2825-18T>G)
c.4487-18T>G (n.4487-18T>G)
c.3683-18T>G (n.3683-18T>G)
c.1541-18T>G (n.1541-18T>G)
c.455-18T>G (n.455-18T>G)
c.4361-18T>G (n.4361-18T>G)
 gnomAD v4
1g.8355618C>ACA2643072854REREc.2825-19G>T (n.2825-19G>T)
c.4487-19G>T (n.4487-19G>T)
c.3683-19G>T (n.3683-19G>T)
c.1541-19G>T (n.1541-19G>T)
c.455-19G>T (n.455-19G>T)
c.4361-19G>T (n.4361-19G>T)
 gnomAD v4
1g.8355618C=CA1152318913REREc.2825-19G= (n.2825-19G=)
c.4487-19G= (n.4487-19G=)
c.3683-19G= (n.3683-19G=)
c.1541-19G= (n.1541-19G=)
c.455-19G= (n.455-19G=)
c.4361-19G= (n.4361-19G=)
1g.8355618C>GCA2553900312REREc.2825-19G>C (n.2825-19G>C)
c.4487-19G>C (n.4487-19G>C)
c.3683-19G>C (n.3683-19G>C)
c.1541-19G>C (n.1541-19G>C)
c.455-19G>C (n.455-19G>C)
c.4361-19G>C (n.4361-19G>C)
1g.8355618C>TCA739598173REREc.2825-19G>A (n.2825-19G>A)
c.4487-19G>A (n.4487-19G>A)
c.3683-19G>A (n.3683-19G>A)
c.1541-19G>A (n.1541-19G>A)
c.455-19G>A (n.455-19G>A)
c.4361-19G>A (n.4361-19G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.8355619C>ACA2643072855REREc.2825-20G>T (n.2825-20G>T)
c.4487-20G>T (n.4487-20G>T)
c.3683-20G>T (n.3683-20G>T)
c.1541-20G>T (n.1541-20G>T)
c.455-20G>T (n.455-20G>T)
c.4361-20G>T (n.4361-20G>T)
 gnomAD v4
1g.8355620T>CCA739598183REREc.2825-21A>G (n.2825-21A>G)
c.4487-21A>G (n.4487-21A>G)
c.3683-21A>G (n.3683-21A>G)
c.1541-21A>G (n.1541-21A>G)
c.455-21A>G (n.455-21A>G)
c.4361-21A>G (n.4361-21A>G)
 dbSNP gnomAD v4
1g.8355620T>GCA739598191REREc.2825-21A>C (n.2825-21A>C)
c.4487-21A>C (n.4487-21A>C)
c.3683-21A>C (n.3683-21A>C)
c.1541-21A>C (n.1541-21A>C)
c.455-21A>C (n.455-21A>C)
c.4361-21A>C (n.4361-21A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.8355620T=CA1152318914REREc.2825-21A= (n.2825-21A=)
c.4487-21A= (n.4487-21A=)
c.3683-21A= (n.3683-21A=)
c.1541-21A= (n.1541-21A=)
c.455-21A= (n.455-21A=)
c.4361-21A= (n.4361-21A=)
1g.8355621G>ACA1152318916REREc.2825-22C>T (n.2825-22C>T)
c.4487-22C>T (n.4487-22C>T)
c.3683-22C>T (n.3683-22C>T)
c.1541-22C>T (n.1541-22C>T)
c.455-22C>T (n.455-22C>T)
c.4361-22C>T (n.4361-22C>T)
 dbSNP
1g.8355621G=CA1152318915REREc.2825-22C= (n.2825-22C=)
c.4487-22C= (n.4487-22C=)
c.3683-22C= (n.3683-22C=)
c.1541-22C= (n.1541-22C=)
c.455-22C= (n.455-22C=)
c.4361-22C= (n.4361-22C=)
1g.8355621G>TCA2643072856REREc.2825-22C>A (n.2825-22C>A)
c.4487-22C>A (n.4487-22C>A)
c.3683-22C>A (n.3683-22C>A)
c.1541-22C>A (n.1541-22C>A)
c.455-22C>A (n.455-22C>A)
c.4361-22C>A (n.4361-22C>A)
 gnomAD v4
1g.8355622C>ACA570764REREc.2825-23G>T (n.2825-23G>T)
c.4487-23G>T (n.4487-23G>T)
c.3683-23G>T (n.3683-23G>T)
c.1541-23G>T (n.1541-23G>T)
c.455-23G>T (n.455-23G>T)
c.4361-23G>T (n.4361-23G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355622C=CA1140611118REREc.2825-23G= (n.2825-23G=)
c.4487-23G= (n.4487-23G=)
c.3683-23G= (n.3683-23G=)
c.1541-23G= (n.1541-23G=)
c.455-23G= (n.455-23G=)
c.4361-23G= (n.4361-23G=)
1g.8355622C>GCA2581639747REREc.2825-23G>C (n.2825-23G>C)
c.4487-23G>C (n.4487-23G>C)
c.3683-23G>C (n.3683-23G>C)
c.1541-23G>C (n.1541-23G>C)
c.455-23G>C (n.455-23G>C)
c.4361-23G>C (n.4361-23G>C)
1g.8355622C>TCA570763REREc.2825-23G>A (n.2825-23G>A)
c.4487-23G>A (n.4487-23G>A)
c.3683-23G>A (n.3683-23G>A)
c.1541-23G>A (n.1541-23G>A)
c.455-23G>A (n.455-23G>A)
c.4361-23G>A (n.4361-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355623G>ACA570765REREc.2825-24C>T (n.2825-24C>T)
c.4487-24C>T (n.4487-24C>T)
c.3683-24C>T (n.3683-24C>T)
c.1541-24C>T (n.1541-24C>T)
c.455-24C>T (n.455-24C>T)
c.4361-24C>T (n.4361-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355623G=CA1144021855REREc.2825-24C= (n.2825-24C=)
c.4487-24C= (n.4487-24C=)
c.3683-24C= (n.3683-24C=)
c.1541-24C= (n.1541-24C=)
c.455-24C= (n.455-24C=)
c.4361-24C= (n.4361-24C=)
1g.8355623G>TCA998362991REREc.2825-24C>A (n.2825-24C>A)
c.4487-24C>A (n.4487-24C>A)
c.3683-24C>A (n.3683-24C>A)
c.1541-24C>A (n.1541-24C>A)
c.455-24C>A (n.455-24C>A)
c.4361-24C>A (n.4361-24C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.8355624C>ACA2643072857REREc.2825-25G>T (n.2825-25G>T)
c.4487-25G>T (n.4487-25G>T)
c.3683-25G>T (n.3683-25G>T)
c.1541-25G>T (n.1541-25G>T)
c.455-25G>T (n.455-25G>T)
c.4361-25G>T (n.4361-25G>T)
 gnomAD v4
1g.8355624C=CA1152318917REREc.2825-25G= (n.2825-25G=)
c.4487-25G= (n.4487-25G=)
c.3683-25G= (n.3683-25G=)
c.1541-25G= (n.1541-25G=)
c.455-25G= (n.455-25G=)
c.4361-25G= (n.4361-25G=)
1g.8355624C>TCA570766REREc.2825-25G>A (n.2825-25G>A)
c.4487-25G>A (n.4487-25G>A)
c.3683-25G>A (n.3683-25G>A)
c.1541-25G>A (n.1541-25G>A)
c.455-25G>A (n.455-25G>A)
c.4361-25G>A (n.4361-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355625T>GCA2643072858REREc.2825-26A>C (n.2825-26A>C)
c.4487-26A>C (n.4487-26A>C)
c.3683-26A>C (n.3683-26A>C)
c.1541-26A>C (n.1541-26A>C)
c.455-26A>C (n.455-26A>C)
c.4361-26A>C (n.4361-26A>C)
 gnomAD v4
1g.8355626A=CA1152318918REREc.2825-27T= (n.2825-27T=)
c.4487-27T= (n.4487-27T=)
c.3683-27T= (n.3683-27T=)
c.1541-27T= (n.1541-27T=)
c.455-27T= (n.455-27T=)
c.4361-27T= (n.4361-27T=)
1g.8355626A>CCA521020206REREc.2825-27T>G (n.2825-27T>G)
c.4487-27T>G (n.4487-27T>G)
c.3683-27T>G (n.3683-27T>G)
c.1541-27T>G (n.1541-27T>G)
c.455-27T>G (n.455-27T>G)
c.4361-27T>G (n.4361-27T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.8355627delCA2643072859REREc.2825-28del (n.2825-28del)
c.4487-28del (n.4487-28del)
c.3683-28del (n.3683-28del)
c.1541-28del (n.1541-28del)
c.455-28del (n.455-28del)
c.4361-28del (n.4361-28del)
 gnomAD v4
1g.8355627C>ACA2643072861REREc.2825-28G>T (n.2825-28G>T)
c.4487-28G>T (n.4487-28G>T)
c.3683-28G>T (n.3683-28G>T)
c.1541-28G>T (n.1541-28G>T)
c.455-28G>T (n.455-28G>T)
c.4361-28G>T (n.4361-28G>T)
 gnomAD v4
1g.8355627C>TCA2643072860REREc.2825-28G>A (n.2825-28G>A)
c.4487-28G>A (n.4487-28G>A)
c.3683-28G>A (n.3683-28G>A)
c.1541-28G>A (n.1541-28G>A)
c.455-28G>A (n.455-28G>A)
c.4361-28G>A (n.4361-28G>A)
 gnomAD v4
1g.8355628A>GCA2643072862REREc.2825-29T>C (n.2825-29T>C)
c.4487-29T>C (n.4487-29T>C)
c.3683-29T>C (n.3683-29T>C)
c.1541-29T>C (n.1541-29T>C)
c.455-29T>C (n.455-29T>C)
c.4361-29T>C (n.4361-29T>C)
 gnomAD v4
1g.8355628A>TCA2643072863REREc.2825-29T>A (n.2825-29T>A)
c.4487-29T>A (n.4487-29T>A)
c.3683-29T>A (n.3683-29T>A)
c.1541-29T>A (n.1541-29T>A)
c.455-29T>A (n.455-29T>A)
c.4361-29T>A (n.4361-29T>A)
 gnomAD v4
1g.8355629G>ACA739598203REREc.2825-30C>T (n.2825-30C>T)
c.4487-30C>T (n.4487-30C>T)
c.3683-30C>T (n.3683-30C>T)
c.1541-30C>T (n.1541-30C>T)
c.455-30C>T (n.455-30C>T)
c.4361-30C>T (n.4361-30C>T)
 dbSNP gnomAD v4
1g.8355629G=CA1152318919REREc.2825-30C= (n.2825-30C=)
c.4487-30C= (n.4487-30C=)
c.3683-30C= (n.3683-30C=)
c.1541-30C= (n.1541-30C=)
c.455-30C= (n.455-30C=)
c.4361-30C= (n.4361-30C=)
1g.8355629G>TCA2643072864REREc.2825-30C>A (n.2825-30C>A)
c.4487-30C>A (n.4487-30C>A)
c.3683-30C>A (n.3683-30C>A)
c.1541-30C>A (n.1541-30C>A)
c.455-30C>A (n.455-30C>A)
c.4361-30C>A (n.4361-30C>A)
 gnomAD v4
1g.8355630A=CA1146435201REREc.2825-31T= (n.2825-31T=)
c.4487-31T= (n.4487-31T=)
c.3683-31T= (n.3683-31T=)
c.1541-31T= (n.1541-31T=)
c.455-31T= (n.455-31T=)
c.4361-31T= (n.4361-31T=)
1g.8355630A>CCA17687286REREc.2825-31T>G (n.2825-31T>G)
c.4487-31T>G (n.4487-31T>G)
c.3683-31T>G (n.3683-31T>G)
c.1541-31T>G (n.1541-31T>G)
c.455-31T>G (n.455-31T>G)
c.4361-31T>G (n.4361-31T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.8355633T>ACA2643072865REREc.2825-34A>T (n.2825-34A>T)
c.4487-34A>T (n.4487-34A>T)
c.3683-34A>T (n.3683-34A>T)
c.1541-34A>T (n.1541-34A>T)
c.455-34A>T (n.455-34A>T)
c.4361-34A>T (n.4361-34A>T)
 gnomAD v4
1g.8355633T>CCA570767REREc.2825-34A>G (n.2825-34A>G)
c.4487-34A>G (n.4487-34A>G)
c.3683-34A>G (n.3683-34A>G)
c.1541-34A>G (n.1541-34A>G)
c.455-34A>G (n.455-34A>G)
c.4361-34A>G (n.4361-34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355633T=CA1152318920REREc.2825-34A= (n.2825-34A=)
c.4487-34A= (n.4487-34A=)
c.3683-34A= (n.3683-34A=)
c.1541-34A= (n.1541-34A=)
c.455-34A= (n.455-34A=)
c.4361-34A= (n.4361-34A=)
1g.8355634A=CA1152318921REREc.2825-35T= (n.2825-35T=)
c.4487-35T= (n.4487-35T=)
c.3683-35T= (n.3683-35T=)
c.1541-35T= (n.1541-35T=)
c.455-35T= (n.455-35T=)
c.4361-35T= (n.4361-35T=)
1g.8355634A>CCA1152318922REREc.2825-35T>G (n.2825-35T>G)
c.4487-35T>G (n.4487-35T>G)
c.3683-35T>G (n.3683-35T>G)
c.1541-35T>G (n.1541-35T>G)
c.455-35T>G (n.455-35T>G)
c.4361-35T>G (n.4361-35T>G)
 dbSNP
1g.8355634A>GCA17687292REREc.2825-35T>C (n.2825-35T>C)
c.4487-35T>C (n.4487-35T>C)
c.3683-35T>C (n.3683-35T>C)
c.1541-35T>C (n.1541-35T>C)
c.455-35T>C (n.455-35T>C)
c.4361-35T>C (n.4361-35T>C)
 dbSNP gnomAD v4
1g.8355635G>ACA570769REREc.2825-36C>T (n.2825-36C>T)
c.4487-36C>T (n.4487-36C>T)
c.3683-36C>T (n.3683-36C>T)
c.1541-36C>T (n.1541-36C>T)
c.455-36C>T (n.455-36C>T)
c.4361-36C>T (n.4361-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355635G=CA1152318923REREc.2825-36C= (n.2825-36C=)
c.4487-36C= (n.4487-36C=)
c.3683-36C= (n.3683-36C=)
c.1541-36C= (n.1541-36C=)
c.455-36C= (n.455-36C=)
c.4361-36C= (n.4361-36C=)
1g.8355635G>TCA570768REREc.2825-36C>A (n.2825-36C>A)
c.4487-36C>A (n.4487-36C>A)
c.3683-36C>A (n.3683-36C>A)
c.1541-36C>A (n.1541-36C>A)
c.455-36C>A (n.455-36C>A)
c.4361-36C>A (n.4361-36C>A)
 dbSNP ExAC gnomAD v4
1g.8355636C>ACA2643072867REREc.2825-37G>T (n.2825-37G>T)
c.4487-37G>T (n.4487-37G>T)
c.3683-37G>T (n.3683-37G>T)
c.1541-37G>T (n.1541-37G>T)
c.455-37G>T (n.455-37G>T)
c.4361-37G>T (n.4361-37G>T)
 gnomAD v4
1g.8355636C>TCA2643072868REREc.2825-37G>A (n.2825-37G>A)
c.4487-37G>A (n.4487-37G>A)
c.3683-37G>A (n.3683-37G>A)
c.1541-37G>A (n.1541-37G>A)
c.455-37G>A (n.455-37G>A)
c.4361-37G>A (n.4361-37G>A)
 gnomAD v4
1g.8355637delCA2643072866REREc.2825-37del (n.2825-37del)
c.4487-37del (n.4487-37del)
c.3683-37del (n.3683-37del)
c.1541-37del (n.1541-37del)
c.455-37del (n.455-37del)
c.4361-37del (n.4361-37del)
 gnomAD v4
1g.8355637C>TCA2574344438REREc.2825-38G>A (n.2825-38G>A)
c.4487-38G>A (n.4487-38G>A)
c.3683-38G>A (n.3683-38G>A)
c.1541-38G>A (n.1541-38G>A)
c.455-38G>A (n.455-38G>A)
c.4361-38G>A (n.4361-38G>A)
 gnomAD v4
1g.8355638A>GCA2643072869REREc.2825-39T>C (n.2825-39T>C)
c.4487-39T>C (n.4487-39T>C)
c.3683-39T>C (n.3683-39T>C)
c.1541-39T>C (n.1541-39T>C)
c.455-39T>C (n.455-39T>C)
c.4361-39T>C (n.4361-39T>C)
 gnomAD v4
1g.8355638A>TCA2643072870REREc.2825-39T>A (n.2825-39T>A)
c.4487-39T>A (n.4487-39T>A)
c.3683-39T>A (n.3683-39T>A)
c.1541-39T>A (n.1541-39T>A)
c.455-39T>A (n.455-39T>A)
c.4361-39T>A (n.4361-39T>A)
 gnomAD v4
1g.8355639G>ACA2643072871REREc.2825-40C>T (n.2825-40C>T)
c.4487-40C>T (n.4487-40C>T)
c.3683-40C>T (n.3683-40C>T)
c.1541-40C>T (n.1541-40C>T)
c.455-40C>T (n.455-40C>T)
c.4361-40C>T (n.4361-40C>T)
 dbSNP gnomAD v4
1g.8355639G>TCA2643072872REREc.2825-40C>A (n.2825-40C>A)
c.4487-40C>A (n.4487-40C>A)
c.3683-40C>A (n.3683-40C>A)
c.1541-40C>A (n.1541-40C>A)
c.455-40C>A (n.455-40C>A)
c.4361-40C>A (n.4361-40C>A)
 gnomAD v4
1g.8355640A>GCA2643072873REREc.2825-41T>C (n.2825-41T>C)
c.4487-41T>C (n.4487-41T>C)
c.3683-41T>C (n.3683-41T>C)
c.1541-41T>C (n.1541-41T>C)
c.455-41T>C (n.455-41T>C)
c.4361-41T>C (n.4361-41T>C)
 gnomAD v4
1g.8355641G>ACA17687308REREc.2825-42C>T (n.2825-42C>T)
c.4487-42C>T (n.4487-42C>T)
c.3683-42C>T (n.3683-42C>T)
c.1541-42C>T (n.1541-42C>T)
c.455-42C>T (n.455-42C>T)
c.4361-42C>T (n.4361-42C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355641G>CCA739598216REREc.2825-42C>G (n.2825-42C>G)
c.4487-42C>G (n.4487-42C>G)
c.3683-42C>G (n.3683-42C>G)
c.1541-42C>G (n.1541-42C>G)
c.455-42C>G (n.455-42C>G)
c.4361-42C>G (n.4361-42C>G)
 dbSNP
1g.8355641G=CA1152318924REREc.2825-42C= (n.2825-42C=)
c.4487-42C= (n.4487-42C=)
c.3683-42C= (n.3683-42C=)
c.1541-42C= (n.1541-42C=)
c.455-42C= (n.455-42C=)
c.4361-42C= (n.4361-42C=)
1g.8355641G>TCA2643072874REREc.2825-42C>A (n.2825-42C>A)
c.4487-42C>A (n.4487-42C>A)
c.3683-42C>A (n.3683-42C>A)
c.1541-42C>A (n.1541-42C>A)
c.455-42C>A (n.455-42C>A)
c.4361-42C>A (n.4361-42C>A)
 gnomAD v4
1g.8355642G>TCA2643072875REREc.2825-43C>A (n.2825-43C>A)
c.4487-43C>A (n.4487-43C>A)
c.3683-43C>A (n.3683-43C>A)
c.1541-43C>A (n.1541-43C>A)
c.455-43C>A (n.455-43C>A)
c.4361-43C>A (n.4361-43C>A)
 gnomAD v4
1g.8355643A=CA1152318925REREc.2825-44T= (n.2825-44T=)
c.4487-44T= (n.4487-44T=)
c.3683-44T= (n.3683-44T=)
c.1541-44T= (n.1541-44T=)
c.455-44T= (n.455-44T=)
c.4361-44T= (n.4361-44T=)
1g.8355643A>GCA17687317REREc.2825-44T>C (n.2825-44T>C)
c.4487-44T>C (n.4487-44T>C)
c.3683-44T>C (n.3683-44T>C)
c.1541-44T>C (n.1541-44T>C)
c.455-44T>C (n.455-44T>C)
c.4361-44T>C (n.4361-44T>C)
 dbSNP gnomAD v4
1g.8355644C>ACA2643072876REREc.2825-45G>T (n.2825-45G>T)
c.4487-45G>T (n.4487-45G>T)
c.3683-45G>T (n.3683-45G>T)
c.1541-45G>T (n.1541-45G>T)
c.455-45G>T (n.455-45G>T)
c.4361-45G>T (n.4361-45G>T)
 gnomAD v4
1g.8355644C=CA1152318926REREc.2825-45G= (n.2825-45G=)
c.4487-45G= (n.4487-45G=)
c.3683-45G= (n.3683-45G=)
c.1541-45G= (n.1541-45G=)
c.455-45G= (n.455-45G=)
c.4361-45G= (n.4361-45G=)
1g.8355644C>TCA521020207REREc.2825-45G>A (n.2825-45G>A)
c.4487-45G>A (n.4487-45G>A)
c.3683-45G>A (n.3683-45G>A)
c.1541-45G>A (n.1541-45G>A)
c.455-45G>A (n.455-45G>A)
c.4361-45G>A (n.4361-45G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355645T>ACA2643072877REREc.2825-46A>T (n.2825-46A>T)
c.4487-46A>T (n.4487-46A>T)
c.3683-46A>T (n.3683-46A>T)
c.1541-46A>T (n.1541-46A>T)
c.455-46A>T (n.455-46A>T)
c.4361-46A>T (n.4361-46A>T)
 gnomAD v4
1g.8355645T>CCA2643072878REREc.2825-46A>G (n.2825-46A>G)
c.4487-46A>G (n.4487-46A>G)
c.3683-46A>G (n.3683-46A>G)
c.1541-46A>G (n.1541-46A>G)
c.455-46A>G (n.455-46A>G)
c.4361-46A>G (n.4361-46A>G)
 gnomAD v4
1g.8355646G>ACA2643072881REREc.2825-47C>T (n.2825-47C>T)
c.4487-47C>T (n.4487-47C>T)
c.3683-47C>T (n.3683-47C>T)
c.1541-47C>T (n.1541-47C>T)
c.455-47C>T (n.455-47C>T)
c.4361-47C>T (n.4361-47C>T)
 gnomAD v4
1g.8355646G>TCA2643072880REREc.2825-47C>A (n.2825-47C>A)
c.4487-47C>A (n.4487-47C>A)
c.3683-47C>A (n.3683-47C>A)
c.1541-47C>A (n.1541-47C>A)
c.455-47C>A (n.455-47C>A)
c.4361-47C>A (n.4361-47C>A)
 gnomAD v4
1g.8355647delCA2643072879REREc.2825-47del (n.2825-47del)
c.4487-47del (n.4487-47del)
c.3683-47del (n.3683-47del)
c.1541-47del (n.1541-47del)
c.455-47del (n.455-47del)
c.4361-47del (n.4361-47del)
 gnomAD v4
1g.8355647G>ACA2643072882REREc.2825-48C>T (n.2825-48C>T)
c.4487-48C>T (n.4487-48C>T)
c.3683-48C>T (n.3683-48C>T)
c.1541-48C>T (n.1541-48C>T)
c.455-48C>T (n.455-48C>T)
c.4361-48C>T (n.4361-48C>T)
 gnomAD v4
1g.8355647G>TCA2643072883REREc.2825-48C>A (n.2825-48C>A)
c.4487-48C>A (n.4487-48C>A)
c.3683-48C>A (n.3683-48C>A)
c.1541-48C>A (n.1541-48C>A)
c.455-48C>A (n.455-48C>A)
c.4361-48C>A (n.4361-48C>A)
 gnomAD v4

Number of alleles fetched