Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8355411dupCA998362920REREc.3005+11dup (n.3005+11dup)
c.4667+11dup (n.4667+11dup)
c.3863+11dup (n.3863+11dup)
c.1721+11dup (n.1721+11dup)
c.4541+11dup (n.4541+11dup)
 dbSNP gnomAD v3 gnomAD v4
1g.8355411delCA2643072834REREc.3005+11del (n.3005+11del)
c.4667+11del (n.4667+11del)
c.3863+11del (n.3863+11del)
c.1721+11del (n.1721+11del)
c.4541+11del (n.4541+11del)
 gnomAD v4
1g.8355411C=CA1152318829REREc.3005+8G= (n.3005+8G=)
c.4667+8G= (n.4667+8G=)
c.3863+8G= (n.3863+8G=)
c.1721+8G= (n.1721+8G=)
c.4541+8G= (n.4541+8G=)
1g.8355411C>TCA521020160REREc.3005+8G>A (n.3005+8G>A)
c.4667+8G>A (n.4667+8G>A)
c.3863+8G>A (n.3863+8G>A)
c.1721+8G>A (n.1721+8G>A)
c.4541+8G>A (n.4541+8G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.8355412A>CCA2574344402REREc.3005+7T>G (n.3005+7T>G)
c.4667+7T>G (n.4667+7T>G)
c.3863+7T>G (n.3863+7T>G)
c.1721+7T>G (n.1721+7T>G)
c.4541+7T>G (n.4541+7T>G)
1g.8355412A>GCA2695465920REREc.3005+7T>C (n.3005+7T>C)
c.4667+7T>C (n.4667+7T>C)
c.3863+7T>C (n.3863+7T>C)
c.1721+7T>C (n.1721+7T>C)
c.4541+7T>C (n.4541+7T>C)
 dbSNP
1g.8355413C>ACA521020161REREc.3005+6G>T (n.3005+6G>T)
c.4667+6G>T (n.4667+6G>T)
c.3863+6G>T (n.3863+6G>T)
c.1721+6G>T (n.1721+6G>T)
c.4541+6G>T (n.4541+6G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355413C=CA1152318830REREc.3005+6G= (n.3005+6G=)
c.4667+6G= (n.4667+6G=)
c.3863+6G= (n.3863+6G=)
c.1721+6G= (n.1721+6G=)
c.4541+6G= (n.4541+6G=)
1g.8355413C>GCA739597664REREc.3005+6G>C (n.3005+6G>C)
c.4667+6G>C (n.4667+6G>C)
c.3863+6G>C (n.3863+6G>C)
c.1721+6G>C (n.1721+6G>C)
c.4541+6G>C (n.4541+6G>C)
 dbSNP gnomAD v4
1g.8355413C>TCA1152318831REREc.3005+6G>A (n.3005+6G>A)
c.4667+6G>A (n.4667+6G>A)
c.3863+6G>A (n.3863+6G>A)
c.1721+6G>A (n.1721+6G>A)
c.4541+6G>A (n.4541+6G>A)
 dbSNP
1g.8355415_8355416delCA2695465958REREc.3005+4_3005+5del (n.3005+4_3005+5del)
c.4667+4_4667+5del (n.4667+4_4667+5del)
c.3863+4_3863+5del (n.3863+4_3863+5del)
c.1721+4_1721+5del (n.1721+4_1721+5del)
c.4541+4_4541+5del (n.4541+4_4541+5del)
 dbSNP
1g.8355415delCA2574344403REREc.3005+4del (n.3005+4del)
c.4667+4del (n.4667+4del)
c.3863+4del (n.3863+4del)
c.1721+4del (n.1721+4del)
c.4541+4del (n.4541+4del)
1g.8355415T>CCA2574344404REREc.3005+4A>G (n.3005+4A>G)
c.4667+4A>G (n.4667+4A>G)
c.3863+4A>G (n.3863+4A>G)
c.1721+4A>G (n.1721+4A>G)
c.4541+4A>G (n.4541+4A>G)
1g.8355417A>CCA338167968REREc.3005+2T>G (n.3005+2T>G)
c.4667+2T>G (n.4667+2T>G)
c.3863+2T>G (n.3863+2T>G)
c.1721+2T>G (n.1721+2T>G)
c.4541+2T>G (n.4541+2T>G)
1g.8355417A>GCA338167970REREc.3005+2T>C (n.3005+2T>C)
c.4667+2T>C (n.4667+2T>C)
c.3863+2T>C (n.3863+2T>C)
c.1721+2T>C (n.1721+2T>C)
c.4541+2T>C (n.4541+2T>C)
1g.8355417A>TCA338167969REREc.3005+2T>A (n.3005+2T>A)
c.4667+2T>A (n.4667+2T>A)
c.3863+2T>A (n.3863+2T>A)
c.1721+2T>A (n.1721+2T>A)
c.4541+2T>A (n.4541+2T>A)
1g.8355418C>ACA338167971REREc.3005+1G>T (n.3005+1G>T)
c.4667+1G>T (n.4667+1G>T)
c.3863+1G>T (n.3863+1G>T)
c.1721+1G>T (n.1721+1G>T)
c.4541+1G>T (n.4541+1G>T)
1g.8355418C>GCA338167973REREc.3005+1G>C (n.3005+1G>C)
c.4667+1G>C (n.4667+1G>C)
c.3863+1G>C (n.3863+1G>C)
c.1721+1G>C (n.1721+1G>C)
c.4541+1G>C (n.4541+1G>C)
1g.8355418C>TCA338167972REREc.3005+1G>A (n.3005+1G>A)
c.4667+1G>A (n.4667+1G>A)
c.3863+1G>A (n.3863+1G>A)
c.1721+1G>A (n.1721+1G>A)
c.4541+1G>A (n.4541+1G>A)
1g.8355419C>ACA338167974REREc.3005G>T (p.Ser1002Ile)
c.4667G>T (p.Ser1556Ile)
c.3863G>T (p.Ser1288Ile)
c.1721G>T (p.Ser574Ile)
c.4541G>T (p.Ser1514Ile)
1g.8355419C>GCA338167975REREc.3005G>C (p.Ser1002Thr)
c.4667G>C (p.Ser1556Thr)
c.3863G>C (p.Ser1288Thr)
c.1721G>C (p.Ser574Thr)
c.4541G>C (p.Ser1514Thr)
1g.8355419C>TCA338167976REREc.3005G>A (p.Ser1002Asn)
c.4667G>A (p.Ser1556Asn)
c.3863G>A (p.Ser1288Asn)
c.1721G>A (p.Ser574Asn)
c.4541G>A (p.Ser1514Asn)
1g.8355420T>ACA338167977REREc.3004A>T (p.Ser1002Cys)
c.4666A>T (p.Ser1556Cys)
c.3862A>T (p.Ser1288Cys)
c.1720A>T (p.Ser574Cys)
c.4540A>T (p.Ser1514Cys)
1g.8355420T>CCA338167978REREc.3004A>G (p.Ser1002Gly)
c.4666A>G (p.Ser1556Gly)
c.3862A>G (p.Ser1288Gly)
c.1720A>G (p.Ser574Gly)
c.4540A>G (p.Ser1514Gly)
1g.8355420T>GCA338167979REREc.3004A>C (p.Ser1002Arg)
c.4666A>C (p.Ser1556Arg)
c.3862A>C (p.Ser1288Arg)
c.1720A>C (p.Ser574Arg)
c.4540A>C (p.Ser1514Arg)
1g.8355421G>ACA570725REREc.3003C>T (p.Tyr1001=)
c.4665C>T (p.Tyr1555=)
c.3861C>T (p.Tyr1287=)
c.1719C>T (p.Tyr573=)
c.4539C>T (p.Tyr1513=)
 dbSNP ExAC gnomAD v2
1g.8355421G>CCA338167980REREc.3003C>G (p.Tyr1001Ter)
c.4665C>G (p.Tyr1555Ter)
c.3861C>G (p.Tyr1287Ter)
c.1719C>G (p.Tyr573Ter)
c.4539C>G (p.Tyr1513Ter)
1g.8355421G=CA1152318832REREc.3003C= (p.Tyr1001=)
c.4665C= (p.Tyr1555=)
c.3861C= (p.Tyr1287=)
c.1719C= (p.Tyr573=)
c.4539C= (p.Tyr1513=)
1g.8355421G>TCA338167981REREc.3003C>A (p.Tyr1001Ter)
c.4665C>A (p.Tyr1555Ter)
c.3861C>A (p.Tyr1287Ter)
c.1719C>A (p.Tyr573Ter)
c.4539C>A (p.Tyr1513Ter)
1g.8355422T>ACA338167982REREc.3002A>T (p.Tyr1001Phe)
c.4664A>T (p.Tyr1555Phe)
c.3860A>T (p.Tyr1287Phe)
c.1718A>T (p.Tyr573Phe)
c.4538A>T (p.Tyr1513Phe)
1g.8355422T>CCA338167983REREc.3002A>G (p.Tyr1001Cys)
c.4664A>G (p.Tyr1555Cys)
c.3860A>G (p.Tyr1287Cys)
c.1718A>G (p.Tyr573Cys)
c.4538A>G (p.Tyr1513Cys)
1g.8355422T>GCA338167984REREc.3002A>C (p.Tyr1001Ser)
c.4664A>C (p.Tyr1555Ser)
c.3860A>C (p.Tyr1287Ser)
c.1718A>C (p.Tyr573Ser)
c.4538A>C (p.Tyr1513Ser)
1g.8355423A>CCA338167985REREc.3001T>G (p.Tyr1001Asp)
c.4663T>G (p.Tyr1555Asp)
c.3859T>G (p.Tyr1287Asp)
c.1717T>G (p.Tyr573Asp)
c.4537T>G (p.Tyr1513Asp)
1g.8355423A>GCA338167987REREc.3001T>C (p.Tyr1001His)
c.4663T>C (p.Tyr1555His)
c.3859T>C (p.Tyr1287His)
c.1717T>C (p.Tyr573His)
c.4537T>C (p.Tyr1513His)
1g.8355423A>TCA338167986REREc.3001T>A (p.Tyr1001Asn)
c.4663T>A (p.Tyr1555Asn)
c.3859T>A (p.Tyr1287Asn)
c.1717T>A (p.Tyr573Asn)
c.4537T>A (p.Tyr1513Asn)
1g.8355424A=CA1152318833REREc.3000T= (p.Tyr1000=)
c.4662T= (p.Tyr1554=)
c.3858T= (p.Tyr1286=)
c.1716T= (p.Tyr572=)
c.4536T= (p.Tyr1512=)
1g.8355424A>CCA338167988REREc.3000T>G (p.Tyr1000Ter)
c.4662T>G (p.Tyr1554Ter)
c.3858T>G (p.Tyr1286Ter)
c.1716T>G (p.Tyr572Ter)
c.4536T>G (p.Tyr1512Ter)
1g.8355424A>GCA570726REREc.3000T>C (p.Tyr1000=)
c.4662T>C (p.Tyr1554=)
c.3858T>C (p.Tyr1286=)
c.1716T>C (p.Tyr572=)
c.4536T>C (p.Tyr1512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355424A>TCA338167989REREc.3000T>A (p.Tyr1000Ter)
c.4662T>A (p.Tyr1554Ter)
c.3858T>A (p.Tyr1286Ter)
c.1716T>A (p.Tyr572Ter)
c.4536T>A (p.Tyr1512Ter)
1g.8355425T>ACA338167990REREc.2999A>T (p.Tyr1000Phe)
c.4661A>T (p.Tyr1554Phe)
c.3857A>T (p.Tyr1286Phe)
c.1715A>T (p.Tyr572Phe)
c.4535A>T (p.Tyr1512Phe)
1g.8355425T>CCA338167991REREc.2999A>G (p.Tyr1000Cys)
c.4661A>G (p.Tyr1554Cys)
c.3857A>G (p.Tyr1286Cys)
c.1715A>G (p.Tyr572Cys)
c.4535A>G (p.Tyr1512Cys)
1g.8355425T>GCA338167992REREc.2999A>C (p.Tyr1000Ser)
c.4661A>C (p.Tyr1554Ser)
c.3857A>C (p.Tyr1286Ser)
c.1715A>C (p.Tyr572Ser)
c.4535A>C (p.Tyr1512Ser)
1g.8355426A=CA1152318834REREc.2998T= (p.Tyr1000=)
c.4660T= (p.Tyr1554=)
c.3856T= (p.Tyr1286=)
c.1714T= (p.Tyr572=)
c.4534T= (p.Tyr1512=)
1g.8355426A>CCA338167993REREc.2998T>G (p.Tyr1000Asp)
c.4660T>G (p.Tyr1554Asp)
c.3856T>G (p.Tyr1286Asp)
c.1714T>G (p.Tyr572Asp)
c.4534T>G (p.Tyr1512Asp)
1g.8355426A>GCA338167994REREc.2998T>C (p.Tyr1000His)
c.4660T>C (p.Tyr1554His)
c.3856T>C (p.Tyr1286His)
c.1714T>C (p.Tyr572His)
c.4534T>C (p.Tyr1512His)
 dbSNP gnomAD v2 gnomAD v4
1g.8355426A>TCA338167995REREc.2998T>A (p.Tyr1000Asn)
c.4660T>A (p.Tyr1554Asn)
c.3856T>A (p.Tyr1286Asn)
c.1714T>A (p.Tyr572Asn)
c.4534T>A (p.Tyr1512Asn)
1g.8355427A>CCA338167997REREc.2997T>G (p.Asp999Glu)
c.4659T>G (p.Asp1553Glu)
c.3855T>G (p.Asp1285Glu)
c.1713T>G (p.Asp571Glu)
c.4533T>G (p.Asp1511Glu)
1g.8355427A>GCA415841626REREc.2997T>C (p.Asp999=)
c.4659T>C (p.Asp1553=)
c.3855T>C (p.Asp1285=)
c.1713T>C (p.Asp571=)
c.4533T>C (p.Asp1511=)
1g.8355427A>TCA338167996REREc.2997T>A (p.Asp999Glu)
c.4659T>A (p.Asp1553Glu)
c.3855T>A (p.Asp1285Glu)
c.1713T>A (p.Asp571Glu)
c.4533T>A (p.Asp1511Glu)
1g.8355428T>ACA338167998REREc.2996A>T (p.Asp999Val)
c.4658A>T (p.Asp1553Val)
c.3854A>T (p.Asp1285Val)
c.1712A>T (p.Asp571Val)
c.4532A>T (p.Asp1511Val)
1g.8355428T>CCA338167999REREc.2996A>G (p.Asp999Gly)
c.4658A>G (p.Asp1553Gly)
c.3854A>G (p.Asp1285Gly)
c.1712A>G (p.Asp571Gly)
c.4532A>G (p.Asp1511Gly)
1g.8355428T>GCA338168000REREc.2996A>C (p.Asp999Ala)
c.4658A>C (p.Asp1553Ala)
c.3854A>C (p.Asp1285Ala)
c.1712A>C (p.Asp571Ala)
c.4532A>C (p.Asp1511Ala)
1g.8355429C>ACA338168001REREc.2995G>T (p.Asp999Tyr)
c.4657G>T (p.Asp1553Tyr)
c.3853G>T (p.Asp1285Tyr)
c.1711G>T (p.Asp571Tyr)
c.4531G>T (p.Asp1511Tyr)
1g.8355429C=CA1152318835REREc.2995G= (p.Asp999=)
c.4657G= (p.Asp1553=)
c.3853G= (p.Asp1285=)
c.1711G= (p.Asp571=)
c.4531G= (p.Asp1511=)
1g.8355429C>GCA338168002REREc.2995G>C (p.Asp999His)
c.4657G>C (p.Asp1553His)
c.3853G>C (p.Asp1285His)
c.1711G>C (p.Asp571His)
c.4531G>C (p.Asp1511His)
1g.8355429C>TCA338168003REREc.2995G>A (p.Asp999Asn)
c.4657G>A (p.Asp1553Asn)
c.3853G>A (p.Asp1285Asn)
c.1711G>A (p.Asp571Asn)
c.4531G>A (p.Asp1511Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.8355430T>ACA338168004REREc.2994A>T (p.Glu998Asp)
c.4656A>T (p.Glu1552Asp)
c.3852A>T (p.Glu1284Asp)
c.1710A>T (p.Glu570Asp)
c.4530A>T (p.Glu1510Asp)
1g.8355430T>CCA415841635REREc.2994A>G (p.Glu998=)
c.4656A>G (p.Glu1552=)
c.3852A>G (p.Glu1284=)
c.1710A>G (p.Glu570=)
c.4530A>G (p.Glu1510=)
 dbSNP gnomAD v4
1g.8355430T>GCA338168005REREc.2994A>C (p.Glu998Asp)
c.4656A>C (p.Glu1552Asp)
c.3852A>C (p.Glu1284Asp)
c.1710A>C (p.Glu570Asp)
c.4530A>C (p.Glu1510Asp)
1g.8355430T=CA1152318836REREc.2994A= (p.Glu998=)
c.4656A= (p.Glu1552=)
c.3852A= (p.Glu1284=)
c.1710A= (p.Glu570=)
c.4530A= (p.Glu1510=)
1g.8355431T>ACA338168006REREc.2993A>T (p.Glu998Val)
c.4655A>T (p.Glu1552Val)
c.3851A>T (p.Glu1284Val)
c.1709A>T (p.Glu570Val)
c.4529A>T (p.Glu1510Val)
1g.8355431T>CCA338168007REREc.2993A>G (p.Glu998Gly)
c.4655A>G (p.Glu1552Gly)
c.3851A>G (p.Glu1284Gly)
c.1709A>G (p.Glu570Gly)
c.4529A>G (p.Glu1510Gly)
1g.8355431T>GCA338168008REREc.2993A>C (p.Glu998Ala)
c.4655A>C (p.Glu1552Ala)
c.3851A>C (p.Glu1284Ala)
c.1709A>C (p.Glu570Ala)
c.4529A>C (p.Glu1510Ala)
1g.8355432C>ACA338168011REREc.2992G>T (p.Glu998Ter)
c.4654G>T (p.Glu1552Ter)
c.3850G>T (p.Glu1284Ter)
c.1708G>T (p.Glu570Ter)
c.4528G>T (p.Glu1510Ter)
1g.8355432C>GCA338168010REREc.2992G>C (p.Glu998Gln)
c.4654G>C (p.Glu1552Gln)
c.3850G>C (p.Glu1284Gln)
c.1708G>C (p.Glu570Gln)
c.4528G>C (p.Glu1510Gln)
1g.8355432C>TCA338168009REREc.2992G>A (p.Glu998Lys)
c.4654G>A (p.Glu1552Lys)
c.3850G>A (p.Glu1284Lys)
c.1708G>A (p.Glu570Lys)
c.4528G>A (p.Glu1510Lys)
1g.8355433C>ACA338168012REREc.2991G>T (p.Gln997His)
c.4653G>T (p.Gln1551His)
c.3849G>T (p.Gln1283His)
c.1707G>T (p.Gln569His)
c.4527G>T (p.Gln1509His)
1g.8355433C>GCA338168013REREc.2991G>C (p.Gln997His)
c.4653G>C (p.Gln1551His)
c.3849G>C (p.Gln1283His)
c.1707G>C (p.Gln569His)
c.4527G>C (p.Gln1509His)
1g.8355433C>TCA415841648REREc.2991G>A (p.Gln997=)
c.4653G>A (p.Gln1551=)
c.3849G>A (p.Gln1283=)
c.1707G>A (p.Gln569=)
c.4527G>A (p.Gln1509=)
1g.8355434T>ACA338168014REREc.2990A>T (p.Gln997Leu)
c.4652A>T (p.Gln1551Leu)
c.3848A>T (p.Gln1283Leu)
c.1706A>T (p.Gln569Leu)
c.4526A>T (p.Gln1509Leu)
1g.8355434T>CCA338168015REREc.2990A>G (p.Gln997Arg)
c.4652A>G (p.Gln1551Arg)
c.3848A>G (p.Gln1283Arg)
c.1706A>G (p.Gln569Arg)
c.4526A>G (p.Gln1509Arg)
1g.8355434T>GCA338168016REREc.2990A>C (p.Gln997Pro)
c.4652A>C (p.Gln1551Pro)
c.3848A>C (p.Gln1283Pro)
c.1706A>C (p.Gln569Pro)
c.4526A>C (p.Gln1509Pro)
1g.8355435G>ACA338168017REREc.2989C>T (p.Gln997Ter)
c.4651C>T (p.Gln1551Ter)
c.3847C>T (p.Gln1283Ter)
c.1705C>T (p.Gln569Ter)
c.4525C>T (p.Gln1509Ter)
1g.8355435G>CCA338168018REREc.2989C>G (p.Gln997Glu)
c.4651C>G (p.Gln1551Glu)
c.3847C>G (p.Gln1283Glu)
c.1705C>G (p.Gln569Glu)
c.4525C>G (p.Gln1509Glu)
1g.8355435G>TCA338168019REREc.2989C>A (p.Gln997Lys)
c.4651C>A (p.Gln1551Lys)
c.3847C>A (p.Gln1283Lys)
c.1705C>A (p.Gln569Lys)
c.4525C>A (p.Gln1509Lys)
 gnomAD v4
1g.8355436A>CCA338168020REREc.2988T>G (p.Ser996Arg)
c.4650T>G (p.Ser1550Arg)
c.3846T>G (p.Ser1282Arg)
c.1704T>G (p.Ser568Arg)
c.4524T>G (p.Ser1508Arg)
1g.8355436A>GCA415841654REREc.2988T>C (p.Ser996=)
c.4650T>C (p.Ser1550=)
c.3846T>C (p.Ser1282=)
c.1704T>C (p.Ser568=)
c.4524T>C (p.Ser1508=)
1g.8355436A>TCA338168021REREc.2988T>A (p.Ser996Arg)
c.4650T>A (p.Ser1550Arg)
c.3846T>A (p.Ser1282Arg)
c.1704T>A (p.Ser568Arg)
c.4524T>A (p.Ser1508Arg)
1g.8355437C>ACA338168022REREc.2987G>T (p.Ser996Ile)
c.4649G>T (p.Ser1550Ile)
c.3845G>T (p.Ser1282Ile)
c.1703G>T (p.Ser568Ile)
c.4523G>T (p.Ser1508Ile)
1g.8355437C=CA1152318837REREc.2987G= (p.Ser996=)
c.4649G= (p.Ser1550=)
c.3845G= (p.Ser1282=)
c.1703G= (p.Ser568=)
c.4523G= (p.Ser1508=)
1g.8355437C>GCA338168023REREc.2987G>C (p.Ser996Thr)
c.4649G>C (p.Ser1550Thr)
c.3845G>C (p.Ser1282Thr)
c.1703G>C (p.Ser568Thr)
c.4523G>C (p.Ser1508Thr)
1g.8355437C>TCA338168024REREc.2987G>A (p.Ser996Asn)
c.4649G>A (p.Ser1550Asn)
c.3845G>A (p.Ser1282Asn)
c.1703G>A (p.Ser568Asn)
c.4523G>A (p.Ser1508Asn)
 dbSNP gnomAD v4
1g.8355438T>ACA338168026REREc.2986A>T (p.Ser996Cys)
c.4648A>T (p.Ser1550Cys)
c.3844A>T (p.Ser1282Cys)
c.1702A>T (p.Ser568Cys)
c.4522A>T (p.Ser1508Cys)
1g.8355438T>CCA338168027REREc.2986A>G (p.Ser996Gly)
c.4648A>G (p.Ser1550Gly)
c.3844A>G (p.Ser1282Gly)
c.1702A>G (p.Ser568Gly)
c.4522A>G (p.Ser1508Gly)
1g.8355438T>GCA338168025REREc.2986A>C (p.Ser996Arg)
c.4648A>C (p.Ser1550Arg)
c.3844A>C (p.Ser1282Arg)
c.1702A>C (p.Ser568Arg)
c.4522A>C (p.Ser1508Arg)
 dbSNP
1g.8355438T=CA1152318838REREc.2986A= (p.Ser996=)
c.4648A= (p.Ser1550=)
c.3844A= (p.Ser1282=)
c.1702A= (p.Ser568=)
c.4522A= (p.Ser1508=)
1g.8355439T>ACA415841660REREc.2985A>T (p.Pro995=)
c.4647A>T (p.Pro1549=)
c.3843A>T (p.Pro1281=)
c.1701A>T (p.Pro567=)
c.4521A>T (p.Pro1507=)
1g.8355439T>CCA415841661REREc.2985A>G (p.Pro995=)
c.4647A>G (p.Pro1549=)
c.3843A>G (p.Pro1281=)
c.1701A>G (p.Pro567=)
c.4521A>G (p.Pro1507=)
1g.8355439T>GCA415841663REREc.2985A>C (p.Pro995=)
c.4647A>C (p.Pro1549=)
c.3843A>C (p.Pro1281=)
c.1701A>C (p.Pro567=)
c.4521A>C (p.Pro1507=)
1g.8355440G>ACA570727REREc.2984C>T (p.Pro995Leu)
c.4646C>T (p.Pro1549Leu)
c.3842C>T (p.Pro1281Leu)
c.1700C>T (p.Pro567Leu)
c.4520C>T (p.Pro1507Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355440G>CCA338168028REREc.2984C>G (p.Pro995Arg)
c.4646C>G (p.Pro1549Arg)
c.3842C>G (p.Pro1281Arg)
c.1700C>G (p.Pro567Arg)
c.4520C>G (p.Pro1507Arg)
 dbSNP gnomAD v4
1g.8355440G=CA1152318839REREc.2984C= (p.Pro995=)
c.4646C= (p.Pro1549=)
c.3842C= (p.Pro1281=)
c.1700C= (p.Pro567=)
c.4520C= (p.Pro1507=)
1g.8355440G>TCA338168029REREc.2984C>A (p.Pro995Gln)
c.4646C>A (p.Pro1549Gln)
c.3842C>A (p.Pro1281Gln)
c.1700C>A (p.Pro567Gln)
c.4520C>A (p.Pro1507Gln)
 gnomAD v4
1g.8355441G>ACA338168030REREc.2983C>T (p.Pro995Ser)
c.4645C>T (p.Pro1549Ser)
c.3841C>T (p.Pro1281Ser)
c.1699C>T (p.Pro567Ser)
c.4519C>T (p.Pro1507Ser)
1g.8355441G>CCA338168031REREc.2983C>G (p.Pro995Ala)
c.4645C>G (p.Pro1549Ala)
c.3841C>G (p.Pro1281Ala)
c.1699C>G (p.Pro567Ala)
c.4519C>G (p.Pro1507Ala)
1g.8355441G>TCA338168032REREc.2983C>A (p.Pro995Thr)
c.4645C>A (p.Pro1549Thr)
c.3841C>A (p.Pro1281Thr)
c.1699C>A (p.Pro567Thr)
c.4519C>A (p.Pro1507Thr)
1g.8355442T>ACA415841671REREc.2982A>T (p.Leu994=)
c.4644A>T (p.Leu1548=)
c.3840A>T (p.Leu1280=)
c.1698A>T (p.Leu566=)
c.4518A>T (p.Leu1506=)
1g.8355442T>CCA17686986REREc.2982A>G (p.Leu994=)
c.4644A>G (p.Leu1548=)
c.3840A>G (p.Leu1280=)
c.1698A>G (p.Leu566=)
c.4518A>G (p.Leu1506=)
 dbSNP
1g.8355442T>GCA415841673REREc.2982A>C (p.Leu994=)
c.4644A>C (p.Leu1548=)
c.3840A>C (p.Leu1280=)
c.1698A>C (p.Leu566=)
c.4518A>C (p.Leu1506=)
1g.8355442T=CA1146387316REREc.2982A= (p.Leu994=)
c.4644A= (p.Leu1548=)
c.3840A= (p.Leu1280=)
c.1698A= (p.Leu566=)
c.4518A= (p.Leu1506=)
1g.8355443A>CCA338168033REREc.2981T>G (p.Leu994Arg)
c.4643T>G (p.Leu1548Arg)
c.3839T>G (p.Leu1280Arg)
c.1697T>G (p.Leu566Arg)
c.4517T>G (p.Leu1506Arg)
1g.8355443A>GCA338168034REREc.2981T>C (p.Leu994Pro)
c.4643T>C (p.Leu1548Pro)
c.3839T>C (p.Leu1280Pro)
c.1697T>C (p.Leu566Pro)
c.4517T>C (p.Leu1506Pro)
1g.8355443A>TCA338168035REREc.2981T>A (p.Leu994Gln)
c.4643T>A (p.Leu1548Gln)
c.3839T>A (p.Leu1280Gln)
c.1697T>A (p.Leu566Gln)
c.4517T>A (p.Leu1506Gln)
1g.8355444G>ACA415841681REREc.2980C>T (p.Leu994=)
c.4642C>T (p.Leu1548=)
c.3838C>T (p.Leu1280=)
c.1696C>T (p.Leu566=)
c.4516C>T (p.Leu1506=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355444G>CCA338168036REREc.2980C>G (p.Leu994Val)
c.4642C>G (p.Leu1548Val)
c.3838C>G (p.Leu1280Val)
c.1696C>G (p.Leu566Val)
c.4516C>G (p.Leu1506Val)
1g.8355444G=CA1152318840REREc.2980C= (p.Leu994=)
c.4642C= (p.Leu1548=)
c.3838C= (p.Leu1280=)
c.1696C= (p.Leu566=)
c.4516C= (p.Leu1506=)
1g.8355444G>TCA338168037REREc.2980C>A (p.Leu994Ile)
c.4642C>A (p.Leu1548Ile)
c.3838C>A (p.Leu1280Ile)
c.1696C>A (p.Leu566Ile)
c.4516C>A (p.Leu1506Ile)
1g.8355445G>ACA415841684REREc.2979C>T (p.His993=)
c.4641C>T (p.His1547=)
c.3837C>T (p.His1279=)
c.1695C>T (p.His565=)
c.4515C>T (p.His1505=)
 gnomAD v4
1g.8355445G>CCA338168038REREc.2979C>G (p.His993Gln)
c.4641C>G (p.His1547Gln)
c.3837C>G (p.His1279Gln)
c.1695C>G (p.His565Gln)
c.4515C>G (p.His1505Gln)
1g.8355445G>TCA338168039REREc.2979C>A (p.His993Gln)
c.4641C>A (p.His1547Gln)
c.3837C>A (p.His1279Gln)
c.1695C>A (p.His565Gln)
c.4515C>A (p.His1505Gln)
1g.8355446T>ACA338168040REREc.2978A>T (p.His993Leu)
c.4640A>T (p.His1547Leu)
c.3836A>T (p.His1279Leu)
c.1694A>T (p.His565Leu)
c.4514A>T (p.His1505Leu)
1g.8355446T>CCA338168041REREc.2978A>G (p.His993Arg)
c.4640A>G (p.His1547Arg)
c.3836A>G (p.His1279Arg)
c.1694A>G (p.His565Arg)
c.4514A>G (p.His1505Arg)
1g.8355446T>GCA338168042REREc.2978A>C (p.His993Pro)
c.4640A>C (p.His1547Pro)
c.3836A>C (p.His1279Pro)
c.1694A>C (p.His565Pro)
c.4514A>C (p.His1505Pro)
1g.8355447G>ACA570728REREc.2977C>T (p.His993Tyr)
c.4639C>T (p.His1547Tyr)
c.3835C>T (p.His1279Tyr)
c.1693C>T (p.His565Tyr)
c.4513C>T (p.His1505Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355447G>CCA338168044REREc.2977C>G (p.His993Asp)
c.4639C>G (p.His1547Asp)
c.3835C>G (p.His1279Asp)
c.1693C>G (p.His565Asp)
c.4513C>G (p.His1505Asp)
1g.8355447G=CA1148899275REREc.2977C= (p.His993=)
c.4639C= (p.His1547=)
c.3835C= (p.His1279=)
c.1693C= (p.His565=)
c.4513C= (p.His1505=)
1g.8355447G>TCA338168043REREc.2977C>A (p.His993Asn)
c.4639C>A (p.His1547Asn)
c.3835C>A (p.His1279Asn)
c.1693C>A (p.His565Asn)
c.4513C>A (p.His1505Asn)
1g.8355448G>ACA570729REREc.2976C>T (p.Gly992=)
c.4638C>T (p.Gly1546=)
c.3834C>T (p.Gly1278=)
c.1692C>T (p.Gly564=)
c.4512C>T (p.Gly1504=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355448G>CCA415841690REREc.2976C>G (p.Gly992=)
c.4638C>G (p.Gly1546=)
c.3834C>G (p.Gly1278=)
c.1692C>G (p.Gly564=)
c.4512C>G (p.Gly1504=)
1g.8355448G=CA1142244715REREc.2976C= (p.Gly992=)
c.4638C= (p.Gly1546=)
c.3834C= (p.Gly1278=)
c.1692C= (p.Gly564=)
c.4512C= (p.Gly1504=)
1g.8355448G>TCA415841692REREc.2976C>A (p.Gly992=)
c.4638C>A (p.Gly1546=)
c.3834C>A (p.Gly1278=)
c.1692C>A (p.Gly564=)
c.4512C>A (p.Gly1504=)
1g.8355449C>ACA338168045REREc.2975G>T (p.Gly992Val)
c.4637G>T (p.Gly1546Val)
c.3833G>T (p.Gly1278Val)
c.1691G>T (p.Gly564Val)
c.4511G>T (p.Gly1504Val)
1g.8355449C>GCA338168046REREc.2975G>C (p.Gly992Ala)
c.4637G>C (p.Gly1546Ala)
c.3833G>C (p.Gly1278Ala)
c.1691G>C (p.Gly564Ala)
c.4511G>C (p.Gly1504Ala)
1g.8355449C>TCA338168047REREc.2975G>A (p.Gly992Asp)
c.4637G>A (p.Gly1546Asp)
c.3833G>A (p.Gly1278Asp)
c.1691G>A (p.Gly564Asp)
c.4511G>A (p.Gly1504Asp)
 gnomAD v4
1g.8355450C>ACA338168048REREc.2974G>T (p.Gly992Cys)
c.4636G>T (p.Gly1546Cys)
c.3832G>T (p.Gly1278Cys)
c.1690G>T (p.Gly564Cys)
c.4510G>T (p.Gly1504Cys)
1g.8355450C=CA1152318841REREc.2974G= (p.Gly992=)
c.4636G= (p.Gly1546=)
c.3832G= (p.Gly1278=)
c.1690G= (p.Gly564=)
c.4510G= (p.Gly1504=)
1g.8355450C>GCA338168049REREc.2974G>C (p.Gly992Arg)
c.4636G>C (p.Gly1546Arg)
c.3832G>C (p.Gly1278Arg)
c.1690G>C (p.Gly564Arg)
c.4510G>C (p.Gly1504Arg)
1g.8355450C>TCA338168050REREc.2974G>A (p.Gly992Ser)
c.4636G>A (p.Gly1546Ser)
c.3832G>A (p.Gly1278Ser)
c.1690G>A (p.Gly564Ser)
c.4510G>A (p.Gly1504Ser)
 dbSNP
1g.8355451A=CA1152318842REREc.2973T= (p.Gly991=)
c.4635T= (p.Gly1545=)
c.3831T= (p.Gly1277=)
c.1689T= (p.Gly563=)
c.4509T= (p.Gly1503=)
1g.8355451A>CCA415841705REREc.2973T>G (p.Gly991=)
c.4635T>G (p.Gly1545=)
c.3831T>G (p.Gly1277=)
c.1689T>G (p.Gly563=)
c.4509T>G (p.Gly1503=)
 dbSNP gnomAD v3 gnomAD v4
1g.8355451A>GCA415841708REREc.2973T>C (p.Gly991=)
c.4635T>C (p.Gly1545=)
c.3831T>C (p.Gly1277=)
c.1689T>C (p.Gly563=)
c.4509T>C (p.Gly1503=)
1g.8355451A>TCA415841710REREc.2973T>A (p.Gly991=)
c.4635T>A (p.Gly1545=)
c.3831T>A (p.Gly1277=)
c.1689T>A (p.Gly563=)
c.4509T>A (p.Gly1503=)
1g.8355452C>ACA338168051REREc.2972G>T (p.Gly991Val)
c.4634G>T (p.Gly1545Val)
c.3830G>T (p.Gly1277Val)
c.1688G>T (p.Gly563Val)
c.4508G>T (p.Gly1503Val)
 gnomAD v4
1g.8355452C>GCA338168052REREc.2972G>C (p.Gly991Ala)
c.4634G>C (p.Gly1545Ala)
c.3830G>C (p.Gly1277Ala)
c.1688G>C (p.Gly563Ala)
c.4508G>C (p.Gly1503Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.8355452C>TCA338168053REREc.2972G>A (p.Gly991Asp)
c.4634G>A (p.Gly1545Asp)
c.3830G>A (p.Gly1277Asp)
c.1688G>A (p.Gly563Asp)
c.4508G>A (p.Gly1503Asp)
1g.8355453C>ACA338168056REREc.2971G>T (p.Gly991Cys)
c.4633G>T (p.Gly1545Cys)
c.3829G>T (p.Gly1277Cys)
c.1687G>T (p.Gly563Cys)
c.4507G>T (p.Gly1503Cys)
1g.8355453C=CA1152318843REREc.2971G= (p.Gly991=)
c.4633G= (p.Gly1545=)
c.3829G= (p.Gly1277=)
c.1687G= (p.Gly563=)
c.4507G= (p.Gly1503=)
1g.8355453C>GCA338168055REREc.2971G>C (p.Gly991Arg)
c.4633G>C (p.Gly1545Arg)
c.3829G>C (p.Gly1277Arg)
c.1687G>C (p.Gly563Arg)
c.4507G>C (p.Gly1503Arg)
1g.8355453C>TCA338168054REREc.2971G>A (p.Gly991Ser)
c.4633G>A (p.Gly1545Ser)
c.3829G>A (p.Gly1277Ser)
c.1687G>A (p.Gly563Ser)
c.4507G>A (p.Gly1503Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355454A>CCA338168057REREc.2970T>G (p.His990Gln)
c.4632T>G (p.His1544Gln)
c.3828T>G (p.His1276Gln)
c.1686T>G (p.His562Gln)
c.4506T>G (p.His1502Gln)
1g.8355454A>GCA415841722REREc.2970T>C (p.His990=)
c.4632T>C (p.His1544=)
c.3828T>C (p.His1276=)
c.1686T>C (p.His562=)
c.4506T>C (p.His1502=)
1g.8355454A>TCA338168058REREc.2970T>A (p.His990Gln)
c.4632T>A (p.His1544Gln)
c.3828T>A (p.His1276Gln)
c.1686T>A (p.His562Gln)
c.4506T>A (p.His1502Gln)
1g.8355455T>ACA338168059REREc.2969A>T (p.His990Leu)
c.4631A>T (p.His1544Leu)
c.3827A>T (p.His1276Leu)
c.1685A>T (p.His562Leu)
c.4505A>T (p.His1502Leu)
1g.8355455T>CCA570730REREc.2969A>G (p.His990Arg)
c.4631A>G (p.His1544Arg)
c.3827A>G (p.His1276Arg)
c.1685A>G (p.His562Arg)
c.4505A>G (p.His1502Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355455T>GCA338168060REREc.2969A>C (p.His990Pro)
c.4631A>C (p.His1544Pro)
c.3827A>C (p.His1276Pro)
c.1685A>C (p.His562Pro)
c.4505A>C (p.His1502Pro)
1g.8355455T=CA1152318844REREc.2969A= (p.His990=)
c.4631A= (p.His1544=)
c.3827A= (p.His1276=)
c.1685A= (p.His562=)
c.4505A= (p.His1502=)
1g.8355456G>ACA338168063REREc.2968C>T (p.His990Tyr)
c.4630C>T (p.His1544Tyr)
c.3826C>T (p.His1276Tyr)
c.1684C>T (p.His562Tyr)
c.4504C>T (p.His1502Tyr)
1g.8355456G>CCA338168062REREc.2968C>G (p.His990Asp)
c.4630C>G (p.His1544Asp)
c.3826C>G (p.His1276Asp)
c.1684C>G (p.His562Asp)
c.4504C>G (p.His1502Asp)
1g.8355456G>TCA338168061REREc.2968C>A (p.His990Asn)
c.4630C>A (p.His1544Asn)
c.3826C>A (p.His1276Asn)
c.1684C>A (p.His562Asn)
c.4504C>A (p.His1502Asn)
 gnomAD v4
1g.8355457C>ACA338168064REREc.2967G>T (p.Met989Ile)
c.4629G>T (p.Met1543Ile)
c.3825G>T (p.Met1275Ile)
c.1683G>T (p.Met561Ile)
c.4503G>T (p.Met1501Ile)
 COSMIC
1g.8355457C=CA1148453538REREc.2967G= (p.Met989=)
c.4629G= (p.Met1543=)
c.3825G= (p.Met1275=)
c.1683G= (p.Met561=)
c.4503G= (p.Met1501=)
1g.8355457C>GCA338168065REREc.2967G>C (p.Met989Ile)
c.4629G>C (p.Met1543Ile)
c.3825G>C (p.Met1275Ile)
c.1683G>C (p.Met561Ile)
c.4503G>C (p.Met1501Ile)
1g.8355457C>TCA570731REREc.2967G>A (p.Met989Ile)
c.4629G>A (p.Met1543Ile)
c.3825G>A (p.Met1275Ile)
c.1683G>A (p.Met561Ile)
c.4503G>A (p.Met1501Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355458A=CA1152318845REREc.2966T= (p.Met989=)
c.4628T= (p.Met1543=)
c.3824T= (p.Met1275=)
c.1682T= (p.Met561=)
c.4502T= (p.Met1501=)
1g.8355458A>CCA338168066REREc.2966T>G (p.Met989Arg)
c.4628T>G (p.Met1543Arg)
c.3824T>G (p.Met1275Arg)
c.1682T>G (p.Met561Arg)
c.4502T>G (p.Met1501Arg)
1g.8355458A>GCA338168067REREc.2966T>C (p.Met989Thr)
c.4628T>C (p.Met1543Thr)
c.3824T>C (p.Met1275Thr)
c.1682T>C (p.Met561Thr)
c.4502T>C (p.Met1501Thr)
1g.8355458A>TCA338168068REREc.2966T>A (p.Met989Lys)
c.4628T>A (p.Met1543Lys)
c.3824T>A (p.Met1275Lys)
c.1682T>A (p.Met561Lys)
c.4502T>A (p.Met1501Lys)
 dbSNP
1g.8355459T>ACA338168069REREc.2965A>T (p.Met989Leu)
c.4627A>T (p.Met1543Leu)
c.3823A>T (p.Met1275Leu)
c.1681A>T (p.Met561Leu)
c.4501A>T (p.Met1501Leu)
1g.8355459T>CCA570732REREc.2965A>G (p.Met989Val)
c.4627A>G (p.Met1543Val)
c.3823A>G (p.Met1275Val)
c.1681A>G (p.Met561Val)
c.4501A>G (p.Met1501Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355459T>GCA338168070REREc.2965A>C (p.Met989Leu)
c.4627A>C (p.Met1543Leu)
c.3823A>C (p.Met1275Leu)
c.1681A>C (p.Met561Leu)
c.4501A>C (p.Met1501Leu)
1g.8355459T=CA1143999162REREc.2965A= (p.Met989=)
c.4627A= (p.Met1543=)
c.3823A= (p.Met1275=)
c.1681A= (p.Met561=)
c.4501A= (p.Met1501=)
1g.8355460G>ACA415841742REREc.2964C>T (p.His988=)
c.4626C>T (p.His1542=)
c.3822C>T (p.His1274=)
c.1680C>T (p.His560=)
c.4500C>T (p.His1500=)
 dbSNP gnomAD v4
1g.8355460G>CCA338168071REREc.2964C>G (p.His988Gln)
c.4626C>G (p.His1542Gln)
c.3822C>G (p.His1274Gln)
c.1680C>G (p.His560Gln)
c.4500C>G (p.His1500Gln)
 dbSNP
1g.8355460G=CA1152318846REREc.2964C= (p.His988=)
c.4626C= (p.His1542=)
c.3822C= (p.His1274=)
c.1680C= (p.His560=)
c.4500C= (p.His1500=)
1g.8355460G>TCA338168072REREc.2964C>A (p.His988Gln)
c.4626C>A (p.His1542Gln)
c.3822C>A (p.His1274Gln)
c.1680C>A (p.His560Gln)
c.4500C>A (p.His1500Gln)
 ClinVar gnomAD v4
1g.8355461T>ACA17687006REREc.2963A>T (p.His988Leu)
c.4625A>T (p.His1542Leu)
c.3821A>T (p.His1274Leu)
c.1679A>T (p.His560Leu)
c.4499A>T (p.His1500Leu)
 dbSNP
1g.8355461T>CCA17687013REREc.2963A>G (p.His988Arg)
c.4625A>G (p.His1542Arg)
c.3821A>G (p.His1274Arg)
c.1679A>G (p.His560Arg)
c.4499A>G (p.His1500Arg)
 dbSNP
1g.8355461T>GCA570733REREc.2963A>C (p.His988Pro)
c.4625A>C (p.His1542Pro)
c.3821A>C (p.His1274Pro)
c.1679A>C (p.His560Pro)
c.4499A>C (p.His1500Pro)
 dbSNP ExAC gnomAD v2
1g.8355461T=CA1141341970REREc.2963A= (p.His988=)
c.4625A= (p.His1542=)
c.3821A= (p.His1274=)
c.1679A= (p.His560=)
c.4499A= (p.His1500=)
1g.8355462G>ACA338168073REREc.2962C>T (p.His988Tyr)
c.4624C>T (p.His1542Tyr)
c.3820C>T (p.His1274Tyr)
c.1678C>T (p.His560Tyr)
c.4498C>T (p.His1500Tyr)
 ClinVar dbSNP
1g.8355462G>CCA338168074REREc.2962C>G (p.His988Asp)
c.4624C>G (p.His1542Asp)
c.3820C>G (p.His1274Asp)
c.1678C>G (p.His560Asp)
c.4498C>G (p.His1500Asp)
 gnomAD v4
1g.8355462G=CA1152318847REREc.2962C= (p.His988=)
c.4624C= (p.His1542=)
c.3820C= (p.His1274=)
c.1678C= (p.His560=)
c.4498C= (p.His1500=)
1g.8355462G>TCA338168075REREc.2962C>A (p.His988Asn)
c.4624C>A (p.His1542Asn)
c.3820C>A (p.His1274Asn)
c.1678C>A (p.His560Asn)
c.4498C>A (p.His1500Asn)
 ClinVar
1g.8355463G>ACA570735REREc.2961C>T (p.Pro987=)
c.4623C>T (p.Pro1541=)
c.3819C>T (p.Pro1273=)
c.1677C>T (p.Pro559=)
c.4497C>T (p.Pro1499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355463G>CCA570734REREc.2961C>G (p.Pro987=)
c.4623C>G (p.Pro1541=)
c.3819C>G (p.Pro1273=)
c.1677C>G (p.Pro559=)
c.4497C>G (p.Pro1499=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355463G=CA1148244020REREc.2961C= (p.Pro987=)
c.4623C= (p.Pro1541=)
c.3819C= (p.Pro1273=)
c.1677C= (p.Pro559=)
c.4497C= (p.Pro1499=)
1g.8355463G>TCA415841756REREc.2961C>A (p.Pro987=)
c.4623C>A (p.Pro1541=)
c.3819C>A (p.Pro1273=)
c.1677C>A (p.Pro559=)
c.4497C>A (p.Pro1499=)
1g.8355464G>ACA338168078REREc.2960C>T (p.Pro987Leu)
c.4622C>T (p.Pro1541Leu)
c.3818C>T (p.Pro1273Leu)
c.1676C>T (p.Pro559Leu)
c.4496C>T (p.Pro1499Leu)
1g.8355464G>CCA338168077REREc.2960C>G (p.Pro987Arg)
c.4622C>G (p.Pro1541Arg)
c.3818C>G (p.Pro1273Arg)
c.1676C>G (p.Pro559Arg)
c.4496C>G (p.Pro1499Arg)
 gnomAD v4
1g.8355464G>TCA338168076REREc.2960C>A (p.Pro987His)
c.4622C>A (p.Pro1541His)
c.3818C>A (p.Pro1273His)
c.1676C>A (p.Pro559His)
c.4496C>A (p.Pro1499His)
1g.8355465G>ACA338168079REREc.2959C>T (p.Pro987Ser)
c.4621C>T (p.Pro1541Ser)
c.3817C>T (p.Pro1273Ser)
c.1675C>T (p.Pro559Ser)
c.4495C>T (p.Pro1499Ser)
 gnomAD v4
1g.8355465G>CCA338168080REREc.2959C>G (p.Pro987Ala)
c.4621C>G (p.Pro1541Ala)
c.3817C>G (p.Pro1273Ala)
c.1675C>G (p.Pro559Ala)
c.4495C>G (p.Pro1499Ala)
1g.8355465G>TCA338168081REREc.2959C>A (p.Pro987Thr)
c.4621C>A (p.Pro1541Thr)
c.3817C>A (p.Pro1273Thr)
c.1675C>A (p.Pro559Thr)
c.4495C>A (p.Pro1499Thr)
 gnomAD v4
1g.8355466G>ACA415841766REREc.2958C>T (p.His986=)
c.4620C>T (p.His1540=)
c.3816C>T (p.His1272=)
c.1674C>T (p.His558=)
c.4494C>T (p.His1498=)
 dbSNP gnomAD v2 gnomAD v4
1g.8355466G>CCA338168082REREc.2958C>G (p.His986Gln)
c.4620C>G (p.His1540Gln)
c.3816C>G (p.His1272Gln)
c.1674C>G (p.His558Gln)
c.4494C>G (p.His1498Gln)
 ClinVar dbSNP
1g.8355466G=CA1152318848REREc.2958C= (p.His986=)
c.4620C= (p.His1540=)
c.3816C= (p.His1272=)
c.1674C= (p.His558=)
c.4494C= (p.His1498=)
1g.8355466G>TCA338168083REREc.2958C>A (p.His986Gln)
c.4620C>A (p.His1540Gln)
c.3816C>A (p.His1272Gln)
c.1674C>A (p.His558Gln)
c.4494C>A (p.His1498Gln)
 gnomAD v4
1g.8355467T>ACA338168086REREc.2957A>T (p.His986Leu)
c.4619A>T (p.His1540Leu)
c.3815A>T (p.His1272Leu)
c.1673A>T (p.His558Leu)
c.4493A>T (p.His1498Leu)
1g.8355467T>CCA338168085REREc.2957A>G (p.His986Arg)
c.4619A>G (p.His1540Arg)
c.3815A>G (p.His1272Arg)
c.1673A>G (p.His558Arg)
c.4493A>G (p.His1498Arg)
1g.8355467T>GCA338168084REREc.2957A>C (p.His986Pro)
c.4619A>C (p.His1540Pro)
c.3815A>C (p.His1272Pro)
c.1673A>C (p.His558Pro)
c.4493A>C (p.His1498Pro)
 dbSNP
1g.8355467T=CA1152318849REREc.2957A= (p.His986=)
c.4619A= (p.His1540=)
c.3815A= (p.His1272=)
c.1673A= (p.His558=)
c.4493A= (p.His1498=)
1g.8355468G>ACA338168087REREc.2956C>T (p.His986Tyr)
c.4618C>T (p.His1540Tyr)
c.3814C>T (p.His1272Tyr)
c.1672C>T (p.His558Tyr)
c.4492C>T (p.His1498Tyr)
1g.8355468G>CCA338168088REREc.2956C>G (p.His986Asp)
c.4618C>G (p.His1540Asp)
c.3814C>G (p.His1272Asp)
c.1672C>G (p.His558Asp)
c.4492C>G (p.His1498Asp)
1g.8355468G>TCA338168089REREc.2956C>A (p.His986Asn)
c.4618C>A (p.His1540Asn)
c.3814C>A (p.His1272Asn)
c.1672C>A (p.His558Asn)
c.4492C>A (p.His1498Asn)
1g.8355469T>ACA415841782REREc.2955A>T (p.Gly985=)
c.4617A>T (p.Gly1539=)
c.3813A>T (p.Gly1271=)
c.1671A>T (p.Gly557=)
c.4491A>T (p.Gly1497=)
1g.8355469T>CCA415841785REREc.2955A>G (p.Gly985=)
c.4617A>G (p.Gly1539=)
c.3813A>G (p.Gly1271=)
c.1671A>G (p.Gly557=)
c.4491A>G (p.Gly1497=)
 gnomAD v4
1g.8355469T>GCA415841787REREc.2955A>C (p.Gly985=)
c.4617A>C (p.Gly1539=)
c.3813A>C (p.Gly1271=)
c.1671A>C (p.Gly557=)
c.4491A>C (p.Gly1497=)
1g.8355470C>ACA338168090REREc.2954G>T (p.Gly985Val)
c.4616G>T (p.Gly1539Val)
c.3812G>T (p.Gly1271Val)
c.1670G>T (p.Gly557Val)
c.4490G>T (p.Gly1497Val)
1g.8355470C=CA1152318850REREc.2954G= (p.Gly985=)
c.4616G= (p.Gly1539=)
c.3812G= (p.Gly1271=)
c.1670G= (p.Gly557=)
c.4490G= (p.Gly1497=)
1g.8355470C>GCA338168091REREc.2954G>C (p.Gly985Ala)
c.4616G>C (p.Gly1539Ala)
c.3812G>C (p.Gly1271Ala)
c.1670G>C (p.Gly557Ala)
c.4490G>C (p.Gly1497Ala)
1g.8355470C>TCA570736REREc.2954G>A (p.Gly985Glu)
c.4616G>A (p.Gly1539Glu)
c.3812G>A (p.Gly1271Glu)
c.1670G>A (p.Gly557Glu)
c.4490G>A (p.Gly1497Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355471C>ACA338168094REREc.2953G>T (p.Gly985Ter)
c.4615G>T (p.Gly1539Ter)
c.3811G>T (p.Gly1271Ter)
c.1669G>T (p.Gly557Ter)
c.4489G>T (p.Gly1497Ter)
1g.8355471C>GCA338168092REREc.2953G>C (p.Gly985Arg)
c.4615G>C (p.Gly1539Arg)
c.3811G>C (p.Gly1271Arg)
c.1669G>C (p.Gly557Arg)
c.4489G>C (p.Gly1497Arg)
1g.8355471C>TCA338168093REREc.2953G>A (p.Gly985Arg)
c.4615G>A (p.Gly1539Arg)
c.3811G>A (p.Gly1271Arg)
c.1669G>A (p.Gly557Arg)
c.4489G>A (p.Gly1497Arg)
 gnomAD v4
1g.8355472A>CCA338168095REREc.2952T>G (p.His984Gln)
c.4614T>G (p.His1538Gln)
c.3810T>G (p.His1270Gln)
c.1668T>G (p.His556Gln)
c.4488T>G (p.His1496Gln)
1g.8355472A>GCA415841797REREc.2952T>C (p.His984=)
c.4614T>C (p.His1538=)
c.3810T>C (p.His1270=)
c.1668T>C (p.His556=)
c.4488T>C (p.His1496=)
 gnomAD v4
1g.8355472A>TCA338168096REREc.2952T>A (p.His984Gln)
c.4614T>A (p.His1538Gln)
c.3810T>A (p.His1270Gln)
c.1668T>A (p.His556Gln)
c.4488T>A (p.His1496Gln)
1g.8355473T>ACA338168097REREc.2951A>T (p.His984Leu)
c.4613A>T (p.His1538Leu)
c.3809A>T (p.His1270Leu)
c.1667A>T (p.His556Leu)
c.4487A>T (p.His1496Leu)
1g.8355473T>CCA338168098REREc.2951A>G (p.His984Arg)
c.4613A>G (p.His1538Arg)
c.3809A>G (p.His1270Arg)
c.1667A>G (p.His556Arg)
c.4487A>G (p.His1496Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355473T>GCA338168099REREc.2951A>C (p.His984Pro)
c.4613A>C (p.His1538Pro)
c.3809A>C (p.His1270Pro)
c.1667A>C (p.His556Pro)
c.4487A>C (p.His1496Pro)
1g.8355473T=CA1152318851REREc.2951A= (p.His984=)
c.4613A= (p.His1538=)
c.3809A= (p.His1270=)
c.1667A= (p.His556=)
c.4487A= (p.His1496=)
1g.8355474G>ACA338168100REREc.2950C>T (p.His984Tyr)
c.4612C>T (p.His1538Tyr)
c.3808C>T (p.His1270Tyr)
c.1666C>T (p.His556Tyr)
c.4486C>T (p.His1496Tyr)
1g.8355474G>CCA338168101REREc.2950C>G (p.His984Asp)
c.4612C>G (p.His1538Asp)
c.3808C>G (p.His1270Asp)
c.1666C>G (p.His556Asp)
c.4486C>G (p.His1496Asp)
1g.8355474G>TCA338168102REREc.2950C>A (p.His984Asn)
c.4612C>A (p.His1538Asn)
c.3808C>A (p.His1270Asn)
c.1666C>A (p.His556Asn)
c.4486C>A (p.His1496Asn)
 gnomAD v4
1g.8355475C>ACA415841814REREc.2949G>T (p.Leu983=)
c.4611G>T (p.Leu1537=)
c.3807G>T (p.Leu1269=)
c.1665G>T (p.Leu555=)
c.4485G>T (p.Leu1495=)
1g.8355475C=CA1152318852REREc.2949G= (p.Leu983=)
c.4611G= (p.Leu1537=)
c.3807G= (p.Leu1269=)
c.1665G= (p.Leu555=)
c.4485G= (p.Leu1495=)
1g.8355475C>GCA415841811REREc.2949G>C (p.Leu983=)
c.4611G>C (p.Leu1537=)
c.3807G>C (p.Leu1269=)
c.1665G>C (p.Leu555=)
c.4485G>C (p.Leu1495=)
1g.8355475C>TCA415841809REREc.2949G>A (p.Leu983=)
c.4611G>A (p.Leu1537=)
c.3807G>A (p.Leu1269=)
c.1665G>A (p.Leu555=)
c.4485G>A (p.Leu1495=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8355476A>CCA338168103REREc.2948T>G (p.Leu983Arg)
c.4610T>G (p.Leu1537Arg)
c.3806T>G (p.Leu1269Arg)
c.1664T>G (p.Leu555Arg)
c.4484T>G (p.Leu1495Arg)
1g.8355476A>GCA338168104REREc.2948T>C (p.Leu983Pro)
c.4610T>C (p.Leu1537Pro)
c.3806T>C (p.Leu1269Pro)
c.1664T>C (p.Leu555Pro)
c.4484T>C (p.Leu1495Pro)
1g.8355476A>TCA338168105REREc.2948T>A (p.Leu983Gln)
c.4610T>A (p.Leu1537Gln)
c.3806T>A (p.Leu1269Gln)
c.1664T>A (p.Leu555Gln)
c.4484T>A (p.Leu1495Gln)
1g.8355477G>ACA415841819REREc.2947C>T (p.Leu983=)
c.4609C>T (p.Leu1537=)
c.3805C>T (p.Leu1269=)
c.1663C>T (p.Leu555=)
c.4483C>T (p.Leu1495=)
1g.8355477G>CCA338168106REREc.2947C>G (p.Leu983Val)
c.4609C>G (p.Leu1537Val)
c.3805C>G (p.Leu1269Val)
c.1663C>G (p.Leu555Val)
c.4483C>G (p.Leu1495Val)
1g.8355477G>TCA338168107REREc.2947C>A (p.Leu983Met)
c.4609C>A (p.Leu1537Met)
c.3805C>A (p.Leu1269Met)
c.1663C>A (p.Leu555Met)
c.4483C>A (p.Leu1495Met)
1g.8355478C>ACA338168108REREc.2946G>T (p.Trp982Cys)
c.4608G>T (p.Trp1536Cys)
c.3804G>T (p.Trp1268Cys)
c.1662G>T (p.Trp554Cys)
c.4482G>T (p.Trp1494Cys)
 gnomAD v4
1g.8355478C>GCA338168110REREc.2946G>C (p.Trp982Cys)
c.4608G>C (p.Trp1536Cys)
c.3804G>C (p.Trp1268Cys)
c.1662G>C (p.Trp554Cys)
c.4482G>C (p.Trp1494Cys)
1g.8355478C>TCA338168109REREc.2946G>A (p.Trp982Ter)
c.4608G>A (p.Trp1536Ter)
c.3804G>A (p.Trp1268Ter)
c.1662G>A (p.Trp554Ter)
c.4482G>A (p.Trp1494Ter)
 gnomAD v4 COSMIC
1g.8355479C>ACA338168111REREc.2945G>T (p.Trp982Leu)
c.4607G>T (p.Trp1536Leu)
c.3803G>T (p.Trp1268Leu)
c.1661G>T (p.Trp554Leu)
c.4481G>T (p.Trp1494Leu)
1g.8355479C>GCA338168112REREc.2945G>C (p.Trp982Ser)
c.4607G>C (p.Trp1536Ser)
c.3803G>C (p.Trp1268Ser)
c.1661G>C (p.Trp554Ser)
c.4481G>C (p.Trp1494Ser)
1g.8355479C>TCA338168113REREc.2945G>A (p.Trp982Ter)
c.4607G>A (p.Trp1536Ter)
c.3803G>A (p.Trp1268Ter)
c.1661G>A (p.Trp554Ter)
c.4481G>A (p.Trp1494Ter)
 gnomAD v4
1g.8355480A>CCA338168114REREc.2944T>G (p.Trp982Gly)
c.4606T>G (p.Trp1536Gly)
c.3802T>G (p.Trp1268Gly)
c.1660T>G (p.Trp554Gly)
c.4480T>G (p.Trp1494Gly)
1g.8355480A>GCA338168115REREc.2944T>C (p.Trp982Arg)
c.4606T>C (p.Trp1536Arg)
c.3802T>C (p.Trp1268Arg)
c.1660T>C (p.Trp554Arg)
c.4480T>C (p.Trp1494Arg)
1g.8355480A>TCA338168116REREc.2944T>A (p.Trp982Arg)
c.4606T>A (p.Trp1536Arg)
c.3802T>A (p.Trp1268Arg)
c.1660T>A (p.Trp554Arg)
c.4480T>A (p.Trp1494Arg)
1g.8355481C>ACA338168117REREc.2943G>T (p.Gln981His)
c.4605G>T (p.Gln1535His)
c.3801G>T (p.Gln1267His)
c.1659G>T (p.Gln553His)
c.4479G>T (p.Gln1493His)
1g.8355481C=CA1152318853REREc.2943G= (p.Gln981=)
c.4605G= (p.Gln1535=)
c.3801G= (p.Gln1267=)
c.1659G= (p.Gln553=)
c.4479G= (p.Gln1493=)
1g.8355481C>GCA338168118REREc.2943G>C (p.Gln981His)
c.4605G>C (p.Gln1535His)
c.3801G>C (p.Gln1267His)
c.1659G>C (p.Gln553His)
c.4479G>C (p.Gln1493His)
1g.8355481C>TCA415841832REREc.2943G>A (p.Gln981=)
c.4605G>A (p.Gln1535=)
c.3801G>A (p.Gln1267=)
c.1659G>A (p.Gln553=)
c.4479G>A (p.Gln1493=)
 dbSNP
1g.8355482T>ACA338168119REREc.2942A>T (p.Gln981Leu)
c.4604A>T (p.Gln1535Leu)
c.3800A>T (p.Gln1267Leu)
c.1658A>T (p.Gln553Leu)
c.4478A>T (p.Gln1493Leu)
1g.8355482T>CCA338168120REREc.2942A>G (p.Gln981Arg)
c.4604A>G (p.Gln1535Arg)
c.3800A>G (p.Gln1267Arg)
c.1658A>G (p.Gln553Arg)
c.4478A>G (p.Gln1493Arg)
1g.8355482T>GCA338168121REREc.2942A>C (p.Gln981Pro)
c.4604A>C (p.Gln1535Pro)
c.3800A>C (p.Gln1267Pro)
c.1658A>C (p.Gln553Pro)
c.4478A>C (p.Gln1493Pro)
1g.8355483G>ACA338168124REREc.2941C>T (p.Gln981Ter)
c.4603C>T (p.Gln1535Ter)
c.3799C>T (p.Gln1267Ter)
c.1657C>T (p.Gln553Ter)
c.4477C>T (p.Gln1493Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.8355483G>CCA338168123REREc.2941C>G (p.Gln981Glu)
c.4603C>G (p.Gln1535Glu)
c.3799C>G (p.Gln1267Glu)
c.1657C>G (p.Gln553Glu)
c.4477C>G (p.Gln1493Glu)
1g.8355483G=CA1152318854REREc.2941C= (p.Gln981=)
c.4603C= (p.Gln1535=)
c.3799C= (p.Gln1267=)
c.1657C= (p.Gln553=)
c.4477C= (p.Gln1493=)
1g.8355483G>TCA338168122REREc.2941C>A (p.Gln981Lys)
c.4603C>A (p.Gln1535Lys)
c.3799C>A (p.Gln1267Lys)
c.1657C>A (p.Gln553Lys)
c.4477C>A (p.Gln1493Lys)
1g.8355484C>ACA338168125REREc.2940G>T (p.Gln980His)
c.4602G>T (p.Gln1534His)
c.3798G>T (p.Gln1266His)
c.1656G>T (p.Gln552His)
c.4476G>T (p.Gln1492His)
1g.8355484C>GCA338168126REREc.2940G>C (p.Gln980His)
c.4602G>C (p.Gln1534His)
c.3798G>C (p.Gln1266His)
c.1656G>C (p.Gln552His)
c.4476G>C (p.Gln1492His)
1g.8355484C>TCA415841843REREc.2940G>A (p.Gln980=)
c.4602G>A (p.Gln1534=)
c.3798G>A (p.Gln1266=)
c.1656G>A (p.Gln552=)
c.4476G>A (p.Gln1492=)
 gnomAD v4
1g.8355485T>ACA338168127REREc.2939A>T (p.Gln980Leu)
c.4601A>T (p.Gln1534Leu)
c.3797A>T (p.Gln1266Leu)
c.1655A>T (p.Gln552Leu)
c.4475A>T (p.Gln1492Leu)
1g.8355485T>CCA338168128REREc.2939A>G (p.Gln980Arg)
c.4601A>G (p.Gln1534Arg)
c.3797A>G (p.Gln1266Arg)
c.1655A>G (p.Gln552Arg)
c.4475A>G (p.Gln1492Arg)
 gnomAD v4
1g.8355485T>GCA338168129REREc.2939A>C (p.Gln980Pro)
c.4601A>C (p.Gln1534Pro)
c.3797A>C (p.Gln1266Pro)
c.1655A>C (p.Gln552Pro)
c.4475A>C (p.Gln1492Pro)
1g.8355486G>ACA338168130REREc.2938C>T (p.Gln980Ter)
c.4600C>T (p.Gln1534Ter)
c.3796C>T (p.Gln1266Ter)
c.1654C>T (p.Gln552Ter)
c.4474C>T (p.Gln1492Ter)
1g.8355486G>CCA338168131REREc.2938C>G (p.Gln980Glu)
c.4600C>G (p.Gln1534Glu)
c.3796C>G (p.Gln1266Glu)
c.1654C>G (p.Gln552Glu)
c.4474C>G (p.Gln1492Glu)
1g.8355486G>TCA338168132REREc.2938C>A (p.Gln980Lys)
c.4600C>A (p.Gln1534Lys)
c.3796C>A (p.Gln1266Lys)
c.1654C>A (p.Gln552Lys)
c.4474C>A (p.Gln1492Lys)
 gnomAD v4
1g.8355487C>ACA338168133REREc.2937G>T (p.Glu979Asp)
c.4599G>T (p.Glu1533Asp)
c.3795G>T (p.Glu1265Asp)
c.1653G>T (p.Glu551Asp)
c.4473G>T (p.Glu1491Asp)
1g.8355487C>GCA338168134REREc.2937G>C (p.Glu979Asp)
c.4599G>C (p.Glu1533Asp)
c.3795G>C (p.Glu1265Asp)
c.1653G>C (p.Glu551Asp)
c.4473G>C (p.Glu1491Asp)
1g.8355487C>TCA415841854REREc.2937G>A (p.Glu979=)
c.4599G>A (p.Glu1533=)
c.3795G>A (p.Glu1265=)
c.1653G>A (p.Glu551=)
c.4473G>A (p.Glu1491=)
 gnomAD v4
1g.8355488T>ACA338168135REREc.2936A>T (p.Glu979Val)
c.4598A>T (p.Glu1533Val)
c.3794A>T (p.Glu1265Val)
c.1652A>T (p.Glu551Val)
c.4472A>T (p.Glu1491Val)
1g.8355488T>CCA338168136REREc.2936A>G (p.Glu979Gly)
c.4598A>G (p.Glu1533Gly)
c.3794A>G (p.Glu1265Gly)
c.1652A>G (p.Glu551Gly)
c.4472A>G (p.Glu1491Gly)
 dbSNP
1g.8355488T>GCA338168137REREc.2936A>C (p.Glu979Ala)
c.4598A>C (p.Glu1533Ala)
c.3794A>C (p.Glu1265Ala)
c.1652A>C (p.Glu551Ala)
c.4472A>C (p.Glu1491Ala)
1g.8355488T=CA1152318855REREc.2936A= (p.Glu979=)
c.4598A= (p.Glu1533=)
c.3794A= (p.Glu1265=)
c.1652A= (p.Glu551=)
c.4472A= (p.Glu1491=)
1g.8355489C>ACA338168139REREc.2935G>T (p.Glu979Ter)
c.4597G>T (p.Glu1533Ter)
c.3793G>T (p.Glu1265Ter)
c.1651G>T (p.Glu551Ter)
c.4471G>T (p.Glu1491Ter)
1g.8355489C>GCA338168140REREc.2935G>C (p.Glu979Gln)
c.4597G>C (p.Glu1533Gln)
c.3793G>C (p.Glu1265Gln)
c.1651G>C (p.Glu551Gln)
c.4471G>C (p.Glu1491Gln)
1g.8355489C>TCA338168138REREc.2935G>A (p.Glu979Lys)
c.4597G>A (p.Glu1533Lys)
c.3793G>A (p.Glu1265Lys)
c.1651G>A (p.Glu551Lys)
c.4471G>A (p.Glu1491Lys)
1g.8355490C>ACA338168142REREc.2934G>T (p.Met978Ile)
c.4596G>T (p.Met1532Ile)
c.3792G>T (p.Met1264Ile)
c.1650G>T (p.Met550Ile)
c.4470G>T (p.Met1490Ile)
1g.8355490C>GCA338168141REREc.2934G>C (p.Met978Ile)
c.4596G>C (p.Met1532Ile)
c.3792G>C (p.Met1264Ile)
c.1650G>C (p.Met550Ile)
c.4470G>C (p.Met1490Ile)
1g.8355490C>TCA338168143REREc.2934G>A (p.Met978Ile)
c.4596G>A (p.Met1532Ile)
c.3792G>A (p.Met1264Ile)
c.1650G>A (p.Met550Ile)
c.4470G>A (p.Met1490Ile)
1g.8355491A=CA1152318856REREc.2933T= (p.Met978=)
c.4595T= (p.Met1532=)
c.3791T= (p.Met1264=)
c.1649T= (p.Met550=)
c.4469T= (p.Met1490=)
1g.8355491A>CCA338168144REREc.2933T>G (p.Met978Arg)
c.4595T>G (p.Met1532Arg)
c.3791T>G (p.Met1264Arg)
c.1649T>G (p.Met550Arg)
c.4469T>G (p.Met1490Arg)
1g.8355491A>GCA338168146REREc.2933T>C (p.Met978Thr)
c.4595T>C (p.Met1532Thr)
c.3791T>C (p.Met1264Thr)
c.1649T>C (p.Met550Thr)
c.4469T>C (p.Met1490Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.8355491A>TCA338168145REREc.2933T>A (p.Met978Lys)
c.4595T>A (p.Met1532Lys)
c.3791T>A (p.Met1264Lys)
c.1649T>A (p.Met550Lys)
c.4469T>A (p.Met1490Lys)
1g.8355492T>ACA338168147REREc.2932A>T (p.Met978Leu)
c.4594A>T (p.Met1532Leu)
c.3790A>T (p.Met1264Leu)
c.1648A>T (p.Met550Leu)
c.4468A>T (p.Met1490Leu)
1g.8355492T>CCA338168148REREc.2932A>G (p.Met978Val)
c.4594A>G (p.Met1532Val)
c.3790A>G (p.Met1264Val)
c.1648A>G (p.Met550Val)
c.4468A>G (p.Met1490Val)
 ClinVar dbSNP
1g.8355492T>GCA338168149REREc.2932A>C (p.Met978Leu)
c.4594A>C (p.Met1532Leu)
c.3790A>C (p.Met1264Leu)
c.1648A>C (p.Met550Leu)
c.4468A>C (p.Met1490Leu)
1g.8355492T=CA1152318857REREc.2932A= (p.Met978=)
c.4594A= (p.Met1532=)
c.3790A= (p.Met1264=)
c.1648A= (p.Met550=)
c.4468A= (p.Met1490=)
1g.8355493G>ACA415841871REREc.2931C>T (p.Ala977=)
c.4593C>T (p.Ala1531=)
c.3789C>T (p.Ala1263=)
c.1647C>T (p.Ala549=)
c.4467C>T (p.Ala1489=)
1g.8355493G>CCA415841872REREc.2931C>G (p.Ala977=)
c.4593C>G (p.Ala1531=)
c.3789C>G (p.Ala1263=)
c.1647C>G (p.Ala549=)
c.4467C>G (p.Ala1489=)
1g.8355493G>TCA415841874REREc.2931C>A (p.Ala977=)
c.4593C>A (p.Ala1531=)
c.3789C>A (p.Ala1263=)
c.1647C>A (p.Ala549=)
c.4467C>A (p.Ala1489=)
1g.8355494G>ACA338168150REREc.2930C>T (p.Ala977Val)
c.4592C>T (p.Ala1531Val)
c.3788C>T (p.Ala1263Val)
c.1646C>T (p.Ala549Val)
c.4466C>T (p.Ala1489Val)
 gnomAD v4
1g.8355494G>CCA338168151REREc.2930C>G (p.Ala977Gly)
c.4592C>G (p.Ala1531Gly)
c.3788C>G (p.Ala1263Gly)
c.1646C>G (p.Ala549Gly)
c.4466C>G (p.Ala1489Gly)
1g.8355494G>TCA338168152REREc.2930C>A (p.Ala977Asp)
c.4592C>A (p.Ala1531Asp)
c.3788C>A (p.Ala1263Asp)
c.1646C>A (p.Ala549Asp)
c.4466C>A (p.Ala1489Asp)
1g.8355495C>ACA570737REREc.2929G>T (p.Ala977Ser)
c.4591G>T (p.Ala1531Ser)
c.3787G>T (p.Ala1263Ser)
c.1645G>T (p.Ala549Ser)
c.4465G>T (p.Ala1489Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.8355495C=CA1152318858REREc.2929G= (p.Ala977=)
c.4591G= (p.Ala1531=)
c.3787G= (p.Ala1263=)
c.1645G= (p.Ala549=)
c.4465G= (p.Ala1489=)
1g.8355495C>GCA338168153REREc.2929G>C (p.Ala977Pro)
c.4591G>C (p.Ala1531Pro)
c.3787G>C (p.Ala1263Pro)
c.1645G>C (p.Ala549Pro)
c.4465G>C (p.Ala1489Pro)
1g.8355495C>TCA338168154REREc.2929G>A (p.Ala977Thr)
c.4591G>A (p.Ala1531Thr)
c.3787G>A (p.Ala1263Thr)
c.1645G>A (p.Ala549Thr)
c.4465G>A (p.Ala1489Thr)
 dbSNP
1g.8355496C>ACA415841884REREc.2928G>T (p.Leu976=)
c.4590G>T (p.Leu1530=)
c.3786G>T (p.Leu1262=)
c.1644G>T (p.Leu548=)
c.4464G>T (p.Leu1488=)
1g.8355496C>GCA415841885REREc.2928G>C (p.Leu976=)
c.4590G>C (p.Leu1530=)
c.3786G>C (p.Leu1262=)
c.1644G>C (p.Leu548=)
c.4464G>C (p.Leu1488=)
1g.8355496C>TCA415841887REREc.2928G>A (p.Leu976=)
c.4590G>A (p.Leu1530=)
c.3786G>A (p.Leu1262=)
c.1644G>A (p.Leu548=)
c.4464G>A (p.Leu1488=)
1g.8355497A>CCA338168155REREc.2927T>G (p.Leu976Arg)
c.4589T>G (p.Leu1530Arg)
c.3785T>G (p.Leu1262Arg)
c.1643T>G (p.Leu548Arg)
c.4463T>G (p.Leu1488Arg)
1g.8355497A>GCA338168156REREc.2927T>C (p.Leu976Pro)
c.4589T>C (p.Leu1530Pro)
c.3785T>C (p.Leu1262Pro)
c.1643T>C (p.Leu548Pro)
c.4463T>C (p.Leu1488Pro)
1g.8355497A>TCA338168157REREc.2927T>A (p.Leu976Gln)
c.4589T>A (p.Leu1530Gln)
c.3785T>A (p.Leu1262Gln)
c.1643T>A (p.Leu548Gln)
c.4463T>A (p.Leu1488Gln)
1g.8355498G>ACA415841894REREc.2926C>T (p.Leu976=)
c.4588C>T (p.Leu1530=)
c.3784C>T (p.Leu1262=)
c.1642C>T (p.Leu548=)
c.4462C>T (p.Leu1488=)
1g.8355498G>CCA338168158REREc.2926C>G (p.Leu976Val)
c.4588C>G (p.Leu1530Val)
c.3784C>G (p.Leu1262Val)
c.1642C>G (p.Leu548Val)
c.4462C>G (p.Leu1488Val)
1g.8355498G>TCA338168159REREc.2926C>A (p.Leu976Met)
c.4588C>A (p.Leu1530Met)
c.3784C>A (p.Leu1262Met)
c.1642C>A (p.Leu548Met)
c.4462C>A (p.Leu1488Met)
1g.8355499T>ACA338168160REREc.2925A>T (p.Arg975Ser)
c.4587A>T (p.Arg1529Ser)
c.3783A>T (p.Arg1261Ser)
c.1641A>T (p.Arg547Ser)
c.4461A>T (p.Arg1487Ser)
1g.8355499T>CCA570738REREc.2925A>G (p.Arg975=)
c.4587A>G (p.Arg1529=)
c.3783A>G (p.Arg1261=)
c.1641A>G (p.Arg547=)
c.4461A>G (p.Arg1487=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8355499T>GCA338168161REREc.2925A>C (p.Arg975Ser)
c.4587A>C (p.Arg1529Ser)
c.3783A>C (p.Arg1261Ser)
c.1641A>C (p.Arg547Ser)
c.4461A>C (p.Arg1487Ser)
1g.8355499T=CA1152318859REREc.2925A= (p.Arg975=)
c.4587A= (p.Arg1529=)
c.3783A= (p.Arg1261=)
c.1641A= (p.Arg547=)
c.4461A= (p.Arg1487=)
1g.8355500C>ACA338168162REREc.2924G>T (p.Arg975Ile)
c.4586G>T (p.Arg1529Ile)
c.3782G>T (p.Arg1261Ile)
c.1640G>T (p.Arg547Ile)
c.4460G>T (p.Arg1487Ile)
1g.8355500C>GCA338168163REREc.2924G>C (p.Arg975Thr)
c.4586G>C (p.Arg1529Thr)
c.3782G>C (p.Arg1261Thr)
c.1640G>C (p.Arg547Thr)
c.4460G>C (p.Arg1487Thr)
1g.8355500C>TCA338168164REREc.2924G>A (p.Arg975Lys)
c.4586G>A (p.Arg1529Lys)
c.3782G>A (p.Arg1261Lys)
c.1640G>A (p.Arg547Lys)
c.4460G>A (p.Arg1487Lys)
1g.8355501T>ACA338168165REREc.2923A>T (p.Arg975Ter)
c.4585A>T (p.Arg1529Ter)
c.3781A>T (p.Arg1261Ter)
c.1639A>T (p.Arg547Ter)
c.4459A>T (p.Arg1487Ter)
1g.8355501T>CCA338168166REREc.2923A>G (p.Arg975Gly)
c.4585A>G (p.Arg1529Gly)
c.3781A>G (p.Arg1261Gly)
c.1639A>G (p.Arg547Gly)
c.4459A>G (p.Arg1487Gly)
1g.8355501T>GCA415841904REREc.2923A>C (p.Arg975=)
c.4585A>C (p.Arg1529=)
c.3781A>C (p.Arg1261=)
c.1639A>C (p.Arg547=)
c.4459A>C (p.Arg1487=)
1g.8355502C>ACA338168167REREc.2922G>T (p.Gln974His)
c.4584G>T (p.Gln1528His)
c.3780G>T (p.Gln1260His)
c.1638G>T (p.Gln546His)
c.4458G>T (p.Gln1486His)
 dbSNP gnomAD v4
1g.8355502C=CA1152318860REREc.2922G= (p.Gln974=)
c.4584G= (p.Gln1528=)
c.3780G= (p.Gln1260=)
c.1638G= (p.Gln546=)
c.4458G= (p.Gln1486=)
1g.8355502C>GCA338168168REREc.2922G>C (p.Gln974His)
c.4584G>C (p.Gln1528His)
c.3780G>C (p.Gln1260His)
c.1638G>C (p.Gln546His)
c.4458G>C (p.Gln1486His)
1g.8355502C>TCA415841909REREc.2922G>A (p.Gln974=)
c.4584G>A (p.Gln1528=)
c.3780G>A (p.Gln1260=)
c.1638G>A (p.Gln546=)
c.4458G>A (p.Gln1486=)
1g.8355503T>ACA338168169REREc.2921A>T (p.Gln974Leu)
c.4583A>T (p.Gln1528Leu)
c.3779A>T (p.Gln1260Leu)
c.1637A>T (p.Gln546Leu)
c.4457A>T (p.Gln1486Leu)
1g.8355503T>CCA338168170REREc.2921A>G (p.Gln974Arg)
c.4583A>G (p.Gln1528Arg)
c.3779A>G (p.Gln1260Arg)
c.1637A>G (p.Gln546Arg)
c.4457A>G (p.Gln1486Arg)
 gnomAD v4
1g.8355503T>GCA338168171REREc.2921A>C (p.Gln974Pro)
c.4583A>C (p.Gln1528Pro)
c.3779A>C (p.Gln1260Pro)
c.1637A>C (p.Gln546Pro)
c.4457A>C (p.Gln1486Pro)
1g.8355504G>ACA338168172REREc.2920C>T (p.Gln974Ter)
c.4582C>T (p.Gln1528Ter)
c.3778C>T (p.Gln1260Ter)
c.1636C>T (p.Gln546Ter)
c.4456C>T (p.Gln1486Ter)
 gnomAD v4
1g.8355504G>CCA338168174REREc.2920C>G (p.Gln974Glu)
c.4582C>G (p.Gln1528Glu)
c.3778C>G (p.Gln1260Glu)
c.1636C>G (p.Gln546Glu)
c.4456C>G (p.Gln1486Glu)
1g.8355504G>TCA338168173REREc.2920C>A (p.Gln974Lys)
c.4582C>A (p.Gln1528Lys)
c.3778C>A (p.Gln1260Lys)
c.1636C>A (p.Gln546Lys)
c.4456C>A (p.Gln1486Lys)
1g.8355505C>ACA415841918REREc.2919G>T (p.Leu973=)
c.4581G>T (p.Leu1527=)
c.3777G>T (p.Leu1259=)
c.1635G>T (p.Leu545=)
c.4455G>T (p.Leu1485=)
1g.8355505C=CA1152318861REREc.2919G= (p.Leu973=)
c.4581G= (p.Leu1527=)
c.3777G= (p.Leu1259=)
c.1635G= (p.Leu545=)
c.4455G= (p.Leu1485=)
1g.8355505C>GCA415841920REREc.2919G>C (p.Leu973=)
c.4581G>C (p.Leu1527=)
c.3777G>C (p.Leu1259=)
c.1635G>C (p.Leu545=)
c.4455G>C (p.Leu1485=)
1g.8355505C>TCA415841923REREc.2919G>A (p.Leu973=)
c.4581G>A (p.Leu1527=)
c.3777G>A (p.Leu1259=)
c.1635G>A (p.Leu545=)
c.4455G>A (p.Leu1485=)
 dbSNP
1g.8355506A>CCA338168175REREc.2918T>G (p.Leu973Arg)
c.4580T>G (p.Leu1527Arg)
c.3776T>G (p.Leu1259Arg)
c.1634T>G (p.Leu545Arg)
c.4454T>G (p.Leu1485Arg)
 gnomAD v4
1g.8355506A>GCA338168176REREc.2918T>C (p.Leu973Pro)
c.4580T>C (p.Leu1527Pro)
c.3776T>C (p.Leu1259Pro)
c.1634T>C (p.Leu545Pro)
c.4454T>C (p.Leu1485Pro)
1g.8355506A>TCA338168177REREc.2918T>A (p.Leu973Gln)
c.4580T>A (p.Leu1527Gln)
c.3776T>A (p.Leu1259Gln)
c.1634T>A (p.Leu545Gln)
c.4454T>A (p.Leu1485Gln)
1g.8355507G>ACA415841928REREc.2917C>T (p.Leu973=)
c.4579C>T (p.Leu1527=)
c.3775C>T (p.Leu1259=)
c.1633C>T (p.Leu545=)
c.4453C>T (p.Leu1485=)
 gnomAD v4
1g.8355507G>CCA338168178REREc.2917C>G (p.Leu973Val)
c.4579C>G (p.Leu1527Val)
c.3775C>G (p.Leu1259Val)
c.1633C>G (p.Leu545Val)
c.4453C>G (p.Leu1485Val)
1g.8355507G>TCA338168179REREc.2917C>A (p.Leu973Met)
c.4579C>A (p.Leu1527Met)
c.3775C>A (p.Leu1259Met)
c.1633C>A (p.Leu545Met)
c.4453C>A (p.Leu1485Met)
 gnomAD v4
1g.8355508C>ACA338168180REREc.2916G>T (p.Glu972Asp)
c.4578G>T (p.Glu1526Asp)
c.3774G>T (p.Glu1258Asp)
c.1632G>T (p.Glu544Asp)
c.4452G>T (p.Glu1484Asp)
1g.8355508C>GCA338168181REREc.2916G>C (p.Glu972Asp)
c.4578G>C (p.Glu1526Asp)
c.3774G>C (p.Glu1258Asp)
c.1632G>C (p.Glu544Asp)
c.4452G>C (p.Glu1484Asp)
1g.8355508C>TCA415841935REREc.2916G>A (p.Glu972=)
c.4578G>A (p.Glu1526=)
c.3774G>A (p.Glu1258=)
c.1632G>A (p.Glu544=)
c.4452G>A (p.Glu1484=)
1g.8355509T>ACA338168182REREc.2915A>T (p.Glu972Val)
c.4577A>T (p.Glu1526Val)
c.3773A>T (p.Glu1258Val)
c.1631A>T (p.Glu544Val)
c.4451A>T (p.Glu1484Val)
1g.8355509T>CCA338168183REREc.2915A>G (p.Glu972Gly)
c.4577A>G (p.Glu1526Gly)
c.3773A>G (p.Glu1258Gly)
c.1631A>G (p.Glu544Gly)
c.4451A>G (p.Glu1484Gly)
1g.8355509T>GCA338168184REREc.2915A>C (p.Glu972Ala)
c.4577A>C (p.Glu1526Ala)
c.3773A>C (p.Glu1258Ala)
c.1631A>C (p.Glu544Ala)
c.4451A>C (p.Glu1484Ala)
1g.8355510C>ACA338168185REREc.2914G>T (p.Glu972Ter)
c.4576G>T (p.Glu1526Ter)
c.3772G>T (p.Glu1258Ter)
c.1630G>T (p.Glu544Ter)
c.4450G>T (p.Glu1484Ter)
 gnomAD v4
1g.8355510C>GCA338168186REREc.2914G>C (p.Glu972Gln)
c.4576G>C (p.Glu1526Gln)
c.3772G>C (p.Glu1258Gln)
c.1630G>C (p.Glu544Gln)
c.4450G>C (p.Glu1484Gln)
1g.8355510C>TCA338168187REREc.2914G>A (p.Glu972Lys)
c.4576G>A (p.Glu1526Lys)
c.3772G>A (p.Glu1258Lys)
c.1630G>A (p.Glu544Lys)
c.4450G>A (p.Glu1484Lys)
1g.8355511G>ACA415841944REREc.2913C>T (p.Ala971=)
c.4575C>T (p.Ala1525=)
c.3771C>T (p.Ala1257=)
c.1629C>T (p.Ala543=)
c.4449C>T (p.Ala1483=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.8355511G>CCA570739REREc.2913C>G (p.Ala971=)
c.4575C>G (p.Ala1525=)
c.3771C>G (p.Ala1257=)
c.1629C>G (p.Ala543=)
c.4449C>G (p.Ala1483=)
 dbSNP ExAC gnomAD v2
1g.8355511G=CA1152318862REREc.2913C= (p.Ala971=)
c.4575C= (p.Ala1525=)
c.3771C= (p.Ala1257=)
c.1629C= (p.Ala543=)
c.4449C= (p.Ala1483=)
1g.8355511G>TCA415841947REREc.2913C>A (p.Ala971=)
c.4575C>A (p.Ala1525=)
c.3771C>A (p.Ala1257=)
c.1629C>A (p.Ala543=)
c.4449C>A (p.Ala1483=)
 gnomAD v4

Number of alleles fetched