text stringlengths 29 603 |
|---|
Y473X c.1419C>A p.Tyr473Ter |
S476X c.1427C>A p.Ser476Ter |
S476X c.1427C>G p.Ser476Ter |
W478X c.1433G>A p.Trp478Ter |
P480S c.1438C>T p.Pro480Ser |
P480L c.1439C>T p.Pro480Leu |
I485N c.1454T>A p.Ile485Asn |
I485T c.1454T>C p.Ile485Thr |
M486T c.1457T>C p.Met486Thr |
M486R c.1457T>G p.Met486Arg |
E487D c.1461G>C p.Glu487Asp |
Y501X c.1503T>A p.Tyr501Ter |
A517S c.1549G>T p.Ala517Ser |
Y519X c.1557T>A p.Tyr519Ter |
Y519X c.1557T>G p.Tyr519Ter |
W522X c.1565G>A p.Trp522Ter |
K524X c.1570A>T p.Lys524Ter |
E530X c.1588G>T p.Glu530Ter |
Y531X c.1593C>A p.Tyr531Ter |
Y531X c.1593C>G p.Tyr531Ter |
G543R c.1627G>C p.Gly543Arg |
G543E c.1628G>A p.Gly543Glu |
G544R c.1630G>C p.Gly544Arg |
G544C c.1630G>T p.Gly544Cys |
G544D c.1631G>A p.Gly544Asp |
G544V c.1631G>T p.Gly544Val |
N548D c.1642A>G p.Asn548Asp |
R551S c.1653G>T p.Arg551Ser |
R551C c.1651C>T p.Arg551Cys |
R551H c.1652G>A p.Arg551His |
R551P c.1652G>C p.Arg551Pro |
R551L c.1652G>T p.Arg551Leu |
C552R c.1654T>C p.Cys552Arg |
C552Y c.1655G>A p.Cys552Tyr |
C552X c.1656C>A p.Cys552Ter |
A553P c.1657G>C p.Ala553Pro |
Y554S c.1661A>C p.Tyr554Ser |
Y554X c.1662C>G p.Tyr554Ter |
Q558X c.1672C>T p.Gln558Ter |
W563X c.1688G>A p.Trp563Ter |
G568R c.1702G>C p.Gly568Arg |
T570A c.1708A>G p.Thr570Ala |
E603D c.1809G>T p.Glu603Asp |
S569F c.1706C>T p.Ser569Phe |
T570I c.1709C>T p.Thr570Ile |
# --- Dropped in canonical rebuild (kept here for audit trail) --- |
# Q576X c.1726C>T p.Gln576Ter # S97: dropped. Canonical[576]=T (Thr), not Q. 594-aa frame artifact. |
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