NM_000127.3(EXT1):c.1761G>A (p.Glu587=)
|
rs7837891
|
0.36094
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
|
rs17439693
|
0.17547
|
NM_000127.3(EXT1):c.114A>G (p.Glu38=)
|
rs17506447
|
0.01623
|
NM_000127.3(EXT1):c.117A>G (p.Glu39=)
|
rs78429222
|
0.00558
|
NM_000127.3(EXT1):c.1633-26C>A
|
rs188609829
|
0.00123
|
NM_000127.3(EXT1):c.741G>A (p.Glu247=)
|
rs148473091
|
0.00063
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_000127.3(EXT1):c.99C>T (p.Ser33=)
|
rs147654656
|
0.00028
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000127.3(EXT1):c.1319G>A (p.Arg440His)
|
rs144550328
|
0.00019
|
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu)
|
rs1176457130
|
0.00016
|
NM_000127.3(EXT1):c.1284+25G>A
|
rs375754024
|
0.00010
|
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)
|
rs145720047
|
0.00010
|
NM_000127.3(EXT1):c.1680C>T (p.Ala560=)
|
rs540101738
|
0.00010
|
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)
|
rs142122090
|
0.00009
|
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)
|
rs188859975
|
0.00008
|
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)
|
rs138855109
|
0.00005
|
NM_000127.3(EXT1):c.2178C>T (p.Pro726=)
|
rs557560039
|
0.00005
|
NM_000127.3(EXT1):c.1503C>G (p.Leu501=)
|
rs146108006
|
0.00003
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.1020C>T (p.Arg340=)
|
rs886038242
|
0.00001
|
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
|
rs747703304
|
0.00001
|
NM_000127.3(EXT1):c.1044G>A (p.Leu348=)
|
|
|
NM_000127.3(EXT1):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000127.3(EXT1):c.1118dup (p.Asn373fs)
|
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1464_1465insAC (p.Pro489fs)
|
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1884-2A>G
|
|
|
NM_000127.3(EXT1):c.1888_1889insTTT (p.Tyr629_Tyr630insPhe)
|
|
|
NM_000127.3(EXT1):c.1952del (p.Asn651fs)
|
|
|
NM_000127.3(EXT1):c.202dup (p.Trp68fs)
|
|
|
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
|
|
|
NM_000127.3(EXT1):c.335del (p.Asn112fs)
|
|
|
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.995C>G (p.Thr332Ser)
|
|
|