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.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)
|
rs148922894
|
0.00067
|
NM_000127.3(EXT1):c.741G>A (p.Glu247=)
|
rs148473091
|
0.00063
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
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.1612G>A (p.Val538Ile)
|
rs767492816
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
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.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000127.3(EXT1):c.963-16C>T
|
rs369462786
|
0.00009
|
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)
|
rs188859975
|
0.00008
|
NM_000127.3(EXT1):c.1161A>G (p.Leu387=)
|
rs200256697
|
0.00007
|
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile)
|
rs144397063
|
0.00007
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
|
rs757115396
|
0.00006
|
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys)
|
rs150818931
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_000127.3(EXT1):c.1722+9C>T
|
rs371055794
|
0.00005
|
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.543C>T (p.Leu181=)
|
rs375583188
|
0.00005
|
NM_000127.3(EXT1):c.1695C>T (p.Asp565=)
|
rs762218262
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.609C>T (p.Tyr203=)
|
rs886042484
|
0.00004
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1285-9A>G
|
rs761040629
|
0.00003
|
NM_000127.3(EXT1):c.1293G>A (p.Gln431=)
|
rs773449892
|
0.00003
|
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu)
|
rs183760697
|
0.00003
|
NM_000127.3(EXT1):c.1503C>G (p.Leu501=)
|
rs146108006
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1899A>G (p.Leu633=)
|
rs368191286
|
0.00003
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly)
|
rs772811741
|
0.00002
|
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
|
rs949806342
|
0.00002
|
NM_000127.3(EXT1):c.1608C>T (p.Val536=)
|
rs761252195
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.195C>T (p.Phe65=)
|
rs1202105470
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.2106G>A (p.Gln702=)
|
rs780640885
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
|
rs570085150
|
0.00002
|
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
|
rs764093488
|
0.00002
|
NM_000127.3(EXT1):c.699T>C (p.Ser233=)
|
rs370644296
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.962+7G>C
|
rs778490814
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1164+8A>G
|
rs765877825
|
0.00001
|
NM_000127.3(EXT1):c.123C>T (p.Ser41=)
|
rs1186563531
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1284+19C>T
|
rs774601928
|
0.00001
|
NM_000127.3(EXT1):c.1354T>C (p.Leu452=)
|
rs1372000855
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1467C>G (p.Pro489=)
|
rs747800473
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1545T>A (p.Val515=)
|
rs200372337
|
0.00001
|
NM_000127.3(EXT1):c.1633-2A>G
|
rs1233701691
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1704G>A (p.Thr568=)
|
rs146389596
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1740A>G (p.Thr580=)
|
rs1340368285
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
|
rs771063505
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
|
rs1480072354
|
0.00001
|
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
|
rs745677100
|
0.00001
|
NM_000127.3(EXT1):c.2055+17C>T
|
rs1295508874
|
0.00001
|
NM_000127.3(EXT1):c.2055+7A>C
|
rs889836376
|
0.00001
|
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
|
rs747703304
|
0.00001
|
NM_000127.3(EXT1):c.2121G>A (p.Thr707=)
|
rs746184779
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.2199C>G (p.Val733=)
|
rs201230140
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.303G>A (p.Glu101=)
|
rs893833607
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.405A>G (p.Leu135=)
|
rs1401060657
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.69C>T (p.Phe23=)
|
rs200276819
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NC_000008.10:g.(?_117647788)_(120797526_?)dup
|
|
|
NC_000008.10:g.(?_118803587)_(118819524_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118812156_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118834836_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118816941)_(118817152_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118847810_?)del
|
|
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.10:g.(?_118825091)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118825208)_119035925del
|
|
|
NC_000008.10:g.(?_118830654)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118831895)_(118834856_?)del
|
|
|
NC_000008.10:g.(?_118842449)_(118842608_?)del
|
|
|
NC_000008.10:g.(?_118847663)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_119122304)_(119123285_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(117799917_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_117807197)_(117807397_?)del
|
|
|
NC_000008.11:g.(?_117812852)_(117837221_?)dup
|
|
|
NC_000008.11:g.(?_117830210)_(117837221_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NM_000127.2(EXT1):c.1418del
|
rs1811893467
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
|
rs1812200901
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
|
rs2129791225
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
|
|
|
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
|
rs978347552
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly)
|
rs1554580147
|
|
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
|
rs1812200035
|
|
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
|
|
|
NM_000127.3(EXT1):c.1038A>G (p.Arg346=)
|
rs2129791072
|
|
NM_000127.3(EXT1):c.103del (p.Ser35fs)
|
rs1563659821
|
|
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
|
|
|
NM_000127.3(EXT1):c.1050T>G (p.Ala350=)
|
rs751521449
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1052dup (p.Leu351fs)
|
rs2129790994
|
|
NM_000127.3(EXT1):c.1053_1056+1del
|
rs1563575654
|
|
NM_000127.3(EXT1):c.1056+1G>A
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+1G>T
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+2T>A
|
rs1554580142
|
|
NM_000127.3(EXT1):c.1056+3A>C
|
rs1554580140
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
|
rs1812199676
|
|
NM_000127.3(EXT1):c.1057-12dup
|
rs775982542
|
|
NM_000127.3(EXT1):c.1057-1G>C
|
rs1587003661
|
|
NM_000127.3(EXT1):c.1057-2A>G
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-2A>T
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg)
|
rs1587003655
|
|
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
|
rs2129786671
|
|
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
|
|
|
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter)
|
rs11546829
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1073dup (p.Met359fs)
|
rs2129786583
|
|
NM_000127.3(EXT1):c.1076dup (p.Met359fs)
|
rs2129786574
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
|
|
|
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
|
rs1812174128
|
|
NM_000127.3(EXT1):c.111del (p.Glu38fs)
|
rs1586280235
|
|
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter)
|
rs2129786370
|
|
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
|
rs1812173838
|
|
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
|
rs2129786342
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
|
|
|
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
|
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
|
rs1812173037
|
|
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
|
rs2129786157
|
|
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
|
rs1817891356
|
|
NM_000127.3(EXT1):c.115del (p.Glu39fs)
|
rs1586280217
|
|
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter)
|
rs2129786122
|
|
NM_000127.3(EXT1):c.1164+15G>A
|
|
|
NM_000127.3(EXT1):c.1164+1G>A
|
rs2129786098
|
|
NM_000127.3(EXT1):c.1164+1G>T
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-1G>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-4A>G
|
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
|
rs1812078315
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
|
rs561006425
|
|
NM_000127.3(EXT1):c.1193del (p.Gln398fs)
|
rs2129772368
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
|
rs1369118661
|
|
NM_000127.3(EXT1):c.1217del (p.Gln406fs)
|
rs2129772259
|
|
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
|
rs1812077342
|
|
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
|
rs1812077295
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
|
rs1812076996
|
|
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
|
rs1812076915
|
|
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
|
rs1587001428
|
|
NM_000127.3(EXT1):c.1239G>A (p.Glu413=)
|
rs756701753
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
|
|
|
NM_000127.3(EXT1):c.124_962+1815del
|
|
|
NM_000127.3(EXT1):c.1263G>A (p.Lys421=)
|
rs2129772013
|
|
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
|
|
|
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+12del
|
|
|
NM_000127.3(EXT1):c.1284+20T>C
|
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1284+7G>A
|
|
|
NM_000127.3(EXT1):c.1285-1G>T
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1285-6T>G
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
|
rs1811943921
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
|
|
|
NM_000127.3(EXT1):c.1297A>C (p.Arg433=)
|
rs1037557280
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.129del (p.Asn44fs)
|
rs1817890492
|
|
NM_000127.3(EXT1):c.1307dup (p.His437fs)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
|
rs1811942900
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
|
rs1811942574
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
|
rs1811942117
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
|
|
|
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
|
|
|
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs)
|
rs2129749144
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
|
rs1811941012
|
|
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
|
rs1811940928
|
|
NM_000127.3(EXT1):c.1401del (p.Tyr468fs)
|
rs1554579004
|
|
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
|
rs1811940837
|
|
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
|
rs1811940788
|
|
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+16C>T
|
|
|
NM_000127.3(EXT1):c.1417+19G>C
|
|
|
NM_000127.3(EXT1):c.1417+1G>A
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1G>T
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1del
|
rs2129748931
|
|
NM_000127.3(EXT1):c.1417+2T>A
|
rs1554578992
|
|
NM_000127.3(EXT1):c.1417+2dup
|
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1418-13C>T
|
|
|
NM_000127.3(EXT1):c.1418-13_1418-11del
|
rs1203626052
|
|
NM_000127.3(EXT1):c.1418-1G>A
|
rs2129741436
|
|
NM_000127.3(EXT1):c.1418-20T>C
|
rs376258820
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
NM_000127.3(EXT1):c.1418-7A>G
|
|
|
NM_000127.3(EXT1):c.1418-8T>G
|
|
|
NM_000127.3(EXT1):c.141C>T (p.His47=)
|
|
|
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
|
|
|
NM_000127.3(EXT1):c.1425G>A (p.Lys475=)
|
rs1442814688
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
|
|
|
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
|
rs765275156
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.1468del (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
|
rs1811890821
|
|
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
|
rs1248782526
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
|
rs146108006
|
|
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
|
|
|
NM_000127.3(EXT1):c.1515C>A (p.Ala505=)
|
rs2129740778
|
|
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter)
|
rs2129740737
|
|
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
|
rs2129740749
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
|
rs1383256196
|
|
NM_000127.3(EXT1):c.1536+11A>G
|
|
|
NM_000127.3(EXT1):c.1536+1G>A
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+1G>C
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537-16G>A
|
|
|
NM_000127.3(EXT1):c.1537-1G>C
|
rs2129736985
|
|
NM_000127.3(EXT1):c.1537-2A>G
|
rs1554578710
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
|
|
|
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
|
rs1811864784
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter)
|
rs1563569983
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
|
|
|
NM_000127.3(EXT1):c.15dup (p.Arg6fs)
|
rs759834555
|
|
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
|
rs1811863055
|
|
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter)
|
rs2129736434
|
|
NM_000127.3(EXT1):c.1632+10G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>C
|
|
|
NM_000127.3(EXT1):c.1632+1dup
|
rs1811862827
|
|
NM_000127.3(EXT1):c.1632+2T>G
|
|
|
NM_000127.3(EXT1):c.1632+9C>A
|
rs368634215
|
|
NM_000127.3(EXT1):c.1633-14C>G
|
|
|
NM_000127.3(EXT1):c.1633-15T>A
|
|
|
NM_000127.3(EXT1):c.1633-16T>C
|
|
|
NM_000127.3(EXT1):c.1633-1G>A
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-1G>T
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-34_1670del
|
rs1554657940
|
|
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
|
|
|
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
|
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter)
|
rs2129720355
|
|
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter)
|
rs757115396
|
|
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
|
rs1823353089
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
|
|
|
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
|
|
|
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
|
rs368004125
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
|
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
|
rs1823352329
|
|
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
|
rs1823351882
|
|
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
|
|
|
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
|
rs1554657927
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter)
|
rs2129720016
|
|
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
|
rs1586993117
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
|
rs1823350888
|
|
NM_000127.3(EXT1):c.1722+11A>G
|
|
|
NM_000127.3(EXT1):c.1722+1G>A
|
|
|
NM_000127.3(EXT1):c.1722+1G>T
|
rs1823350857
|
|
NM_000127.3(EXT1):c.1722+2T>G
|
rs1823350795
|
|
NM_000127.3(EXT1):c.1722+2dup
|
|
|
NM_000127.3(EXT1):c.1723-17T>A
|
rs2129702062
|
|
NM_000127.3(EXT1):c.1723-2A>C
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
|
|
|
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter)
|
rs1586990402
|
|
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
|
rs1586990398
|
|
NM_000127.3(EXT1):c.1762dup (p.Arg588fs)
|
rs2129701760
|
|
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
|
|
|
NM_000127.3(EXT1):c.176del (p.Pro59fs)
|
rs1817889027
|
|
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
|
rs1823254431
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.1773del (p.Tyr592fs)
|
rs1586990361
|
|
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
|
rs1823254238
|
|
NM_000127.3(EXT1):c.1779del (p.Ala594fs)
|
rs2129701642
|
|
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
|
rs1823253698
|
|
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
|
rs1718310043
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
|
|
|
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
|
rs1823253516
|
|
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
|
rs1554657437
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)
|
rs1586990317
|
|
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
|
rs1823253080
|
|
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
|
rs1823253013
|
|
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
|
|
|
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter)
|
rs2129701251
|
|
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter)
|
rs2129701239
|
|
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
|
|
|
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
|
|
|
NM_000127.3(EXT1):c.1845C>T (p.Asp615=)
|
rs2129701116
|
|
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
|
rs2129701119
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
|
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
|
rs1823251633
|
|
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
|
rs886039357
|
|
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
|
|
|
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
|
rs2129700894
|
|
NM_000127.3(EXT1):c.1883+14A>T
|
|
|
NM_000127.3(EXT1):c.1883+1G>A
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+1G>T
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+2T>C
|
rs1823251224
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1884-1G>A
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-1G>T
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
|
rs1823215251
|
|
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=)
|
rs1823215215
|
|
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
|
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
|
|
|
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter)
|
rs2129694149
|
|
NM_000127.3(EXT1):c.1906del (p.His636fs)
|
rs2129694129
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter)
|
rs1586989220
|
|
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
|
rs1823214768
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
|
|
|
NM_000127.3(EXT1):c.1944del (p.Gln648fs)
|
rs1586989202
|
|
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
|
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.194del (p.Phe65fs)
|
|
|
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
|
rs1823213816
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.1971del (p.Met657fs)
|
rs1823213767
|
|
NM_000127.3(EXT1):c.1983G>A (p.Val661=)
|
rs962526270
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
|
|
|
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
|
rs2129693616
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
|
rs1131692020
|
|
NM_000127.3(EXT1):c.2004del (p.Pro669fs)
|
rs1563872934
|
|
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.2016G>A (p.Val672=)
|
|
|
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
|
rs1823212809
|
|
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
|
rs1823212774
|
|
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
|
rs2130044984
|
|
NM_000127.3(EXT1):c.2043A>T (p.Thr681=)
|
rs746481404
|
|
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
|
rs1823212594
|
|
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
|
rs1823212414
|
|
NM_000127.3(EXT1):c.2055+10G>A
|
|
|
NM_000127.3(EXT1):c.2055+20del
|
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2056-14C>G
|
|
|
NM_000127.3(EXT1):c.2056-14C>T
|
rs759290391
|
|
NM_000127.3(EXT1):c.2059del (p.Ser687fs)
|
rs1554656288
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
|
|
|
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
|
rs1817887343
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)
|
rs1554656266
|
|
NM_000127.3(EXT1):c.2115del (p.Met705fs)
|
rs1823137578
|
|
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
|
rs1823137520
|
|
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2131del (p.Trp711fs)
|
rs2129679904
|
|
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)
|
rs786205593
|
|
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)
|
rs2129679879
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
|
|
|
NM_000127.3(EXT1):c.218del (p.Asn73fs)
|
rs1554601568
|
|
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
|
rs201230140
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
|
|
|
NM_000127.3(EXT1):c.243C>A (p.Ser81=)
|
rs916118962
|
|
NM_000127.3(EXT1):c.247del (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.247dup (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
|
|
|
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
|
rs1064793753
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
|
rs1817885411
|
|
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs)
|
rs1586279952
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter)
|
rs1227875610
|
|
NM_000127.3(EXT1):c.282dup (p.Gly95fs)
|
rs1563659649
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
|
rs1817884837
|
|
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
|
rs2130044431
|
|
NM_000127.3(EXT1):c.287del (p.Lys96fs)
|
rs1817884791
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.293del (p.Cys98fs)
|
rs2130044416
|
|
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
|
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000127.3(EXT1):c.345dup (p.Val116fs)
|
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
|
rs982804750
|
|
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
|
|
|
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
|
|
|
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
|
rs1817882619
|
|
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter)
|
rs2130043930
|
|
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter)
|
rs1586279835
|
|
NM_000127.3(EXT1):c.369_370del (p.Lys126fs)
|
rs2130043872
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
|
|
|
NM_000127.3(EXT1):c.373del (p.Glu125fs)
|
|
|
NM_000127.3(EXT1):c.373dup (p.Glu125fs)
|
rs2130043834
|
|
NM_000127.3(EXT1):c.379del (p.Ile127fs)
|
|
|
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
|
|
|
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
|
|
|
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
|
rs1817881036
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
|
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.419del (p.Gly140fs)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.423C>T (p.Ser141=)
|
rs2130043533
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.435del (p.Ser146fs)
|
rs2130043490
|
|
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
|
|
|
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
|
|
|
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
|
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.453G>C (p.Ala151=)
|
rs780843781
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
|
|
|
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter)
|
rs1554601534
|
|
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
|
rs1817879832
|
|
NM_000127.3(EXT1):c.461_462del (p.Phe154fs)
|
rs2130043334
|
|
NM_000127.3(EXT1):c.465C>T (p.Val155=)
|
|
|
NM_000127.3(EXT1):c.46del (p.Cys16fs)
|
rs1817893887
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
|
rs1817879125
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
|
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000127.3(EXT1):c.515_527del (p.His172fs)
|
|
|
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
|
rs1817878703
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
|
|
|
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs)
|
rs1554601525
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)
|
rs886039561
|
|
NM_000127.3(EXT1):c.538_539del (p.Leu181fs)
|
rs886039486
|
|
NM_000127.3(EXT1):c.540_962+399del
|
rs2130039927
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.542_543del (p.Leu181fs)
|
rs1563659474
|
|
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
|
|
|
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
|
|
|
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
|
rs2130042921
|
|
NM_000127.3(EXT1):c.558T>C (p.Asn186=)
|
rs1817877428
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.55del (p.Leu19fs)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)
|
rs1563659467
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
|
|
|
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)
|
rs1586279621
|
|
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
|
rs1817876363
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del)
|
rs1554601502
|
|
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
|
rs1817876107
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
|
rs2130045851
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter)
|
rs2130042683
|
|
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter)
|
rs2130042549
|
|
NM_000127.3(EXT1):c.642_663del (p.Met215fs)
|
rs1586279544
|
|
NM_000127.3(EXT1):c.642_675del (p.Met215fs)
|
rs1586279535
|
|
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs)
|
rs1554601507
|
|
NM_000127.3(EXT1):c.644_654del (p.Met215fs)
|
rs2130042421
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.648G>A (p.Leu216=)
|
rs2130042468
|
|
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
|
rs1817874249
|
|
NM_000127.3(EXT1):c.651_663del (p.Lys218fs)
|
rs1554601504
|
|
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
|
rs1817873963
|
|
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
|
|
|
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
|
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
|
rs764093488
|
|
NM_000127.3(EXT1):c.674del (p.Asn225fs)
|
rs1817873681
|
|
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
|
|
|
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
|
rs1817873582
|
|
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
|
rs1817873443
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.698del (p.Ser233fs)
|
rs1817872999
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
|
rs2130042109
|
|
NM_000127.3(EXT1):c.712del (p.Ser238fs)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
|
rs2130041954
|
|
NM_000127.3(EXT1):c.756del (p.Lys252fs)
|
|
|
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
|
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.770del (p.Pro257fs)
|
rs2130041891
|
|
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
|
rs1817871338
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.773_777del (p.Pro258fs)
|
rs2130041831
|
|
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
|
|
|
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
|
|
|
NM_000127.3(EXT1):c.787del (p.Met263fs)
|
rs2130041790
|
|
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg)
|
rs377162411
|
|
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
|
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.798del (p.Phe266fs)
|
rs1563659352
|
|
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
|
rs1817892723
|
|
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu)
|
rs886039352
|
|
NM_000127.3(EXT1):c.803G>T (p.Gly268Val)
|
rs886039352
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)
|
rs1064793786
|
|
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
|
rs1817870176
|
|
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
|
rs1817870237
|
|
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.837dup (p.Arg280fs)
|
rs2130041540
|
|
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly)
|
rs1554601483
|
|
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
|
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser)
|
rs1563659325
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.846del (p.Leu283fs)
|
rs1554601481
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
|
rs1057520608
|
|
NM_000127.3(EXT1):c.854dup (p.His285fs)
|
rs1554601476
|
|
NM_000127.3(EXT1):c.855C>T (p.His285=)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
|
rs759708614
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.907del (p.Asp303fs)
|
rs2130041164
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
|
rs1817868370
|
|
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
|
rs1554601474
|
|
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
|
rs1817867776
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.949del (p.Thr317fs)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter)
|
rs1586279297
|
|
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
|
rs1817866954
|
|
NM_000127.3(EXT1):c.962+17del
|
|
|
NM_000127.3(EXT1):c.962+18C>T
|
|
|
NM_000127.3(EXT1):c.962+1G>A
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>T
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962+7G>A
|
rs778490814
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963-13C>T
|
|
|
NM_000127.3(EXT1):c.963-14T>G
|
|
|
NM_000127.3(EXT1):c.963-15C>T
|
|
|
NM_000127.3(EXT1):c.963-2A>G
|
rs1554580162
|
|
NM_000127.3(EXT1):c.963-7dup
|
rs2129791582
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
|
|
|
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
|
|
|
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
|
rs2129791475
|
|
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs)
|
rs1563575697
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp)
|
rs1554580153
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|