NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
|
|
|
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
|
|
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NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
|
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
|
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
|
|
|
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
|
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
|
|
|
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
|
rs1811865335
|
|
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
|
|
|
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
|
|
|
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
|
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
|
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.1836del (p.Lys611_Trp612insTer)
|
|
|
NM_000127.3(EXT1):c.1883+5G>A
|
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2055+1G>C
|
|
|
NM_000127.3(EXT1):c.2055+2dup
|
|
|
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
|
|
|
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
|
|
|
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
|
rs1823138986
|
|
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
|
|
|
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
|
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
|
|
|
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
|
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
|
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
|
|
|
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
|
|
|
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
|
|
|
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
|
|
|
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
|
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.528_535del (p.Lys177fs)
|
rs587776540
|
|
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
|
|
|
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
|
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
|
|
|
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
|
|
|
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
|
|
|
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
|
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)
|
|
|