NM_000390.4(CHM):c.315-1543T>C
|
rs12835678
|
0.27812
|
NM_000390.4(CHM):c.315-1541C>A
|
rs10217834
|
0.17278
|
NM_000390.4(CHM):c.265A>T (p.Ser89Cys)
|
rs145707160
|
0.01253
|
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)
|
rs145877269
|
0.00962
|
NM_000390.4(CHM):c.238C>T (p.Leu80Phe)
|
rs55741408
|
0.00895
|
NM_000390.4(CHM):c.1641G>T (p.Leu547=)
|
rs148301015
|
0.00132
|
NM_000390.4(CHM):c.825G>A (p.Pro275=)
|
rs145268507
|
0.00132
|
NM_000390.4(CHM):c.1620A>G (p.Gln540=)
|
rs140479582
|
0.00057
|
NM_000390.4(CHM):c.205G>C (p.Val69Leu)
|
rs145088557
|
0.00056
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_000390.4(CHM):c.1349+10C>T
|
rs376129971
|
0.00050
|
NM_000390.4(CHM):c.29A>G (p.Asp10Gly)
|
rs138374611
|
0.00042
|
NM_000390.4(CHM):c.8A>G (p.Asp3Gly)
|
rs149255670
|
0.00035
|
NM_000390.4(CHM):c.1380T>C (p.Asp460=)
|
rs138395490
|
0.00024
|
NM_000390.4(CHM):c.1255A>G (p.Ile419Val)
|
rs140093046
|
0.00015
|
NM_000390.4(CHM):c.1713C>T (p.Asn571=)
|
rs142340268
|
0.00012
|
NM_000390.4(CHM):c.1771-4C>T
|
rs376625115
|
0.00009
|
NM_000390.4(CHM):c.498G>A (p.Ala166=)
|
rs779055829
|
0.00006
|
NM_000390.4(CHM):c.957A>G (p.Thr319=)
|
rs373242750
|
0.00006
|
NM_000390.4(CHM):c.10A>G (p.Thr4Ala)
|
rs746300399
|
0.00004
|
NM_000390.4(CHM):c.182A>C (p.Glu61Ala)
|
rs372819339
|
0.00004
|
NM_000390.4(CHM):c.189+5A>G
|
rs757833413
|
0.00003
|
NM_000390.4(CHM):c.582A>G (p.Glu194=)
|
rs1444964030
|
0.00003
|
NM_000390.4(CHM):c.619A>G (p.Thr207Ala)
|
rs374880482
|
0.00003
|
NM_000390.4(CHM):c.1008T>C (p.Ile336=)
|
rs749991144
|
0.00002
|
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr)
|
rs754257889
|
0.00002
|
NM_000390.4(CHM):c.127T>C (p.Tyr43His)
|
rs780259893
|
0.00001
|
NM_000390.4(CHM):c.1446del (p.Gly483fs)
|
rs1244003380
|
0.00001
|
NM_000390.4(CHM):c.1574A>G (p.Gln525Arg)
|
rs1309166998
|
0.00001
|
NM_000390.4(CHM):c.1609+2dup
|
rs386833676
|
0.00001
|
NM_000390.4(CHM):c.1648C>G (p.Leu550Val)
|
rs186479811
|
0.00001
|
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr)
|
rs143212912
|
0.00001
|
NM_000390.4(CHM):c.1782T>C (p.Leu594=)
|
rs781107287
|
0.00001
|
NM_000390.4(CHM):c.1893A>G (p.Ile631Met)
|
rs778210722
|
0.00001
|
NM_000390.4(CHM):c.1929A>C (p.Thr643=)
|
rs747278560
|
0.00001
|
NM_000390.4(CHM):c.502G>C (p.Glu168Gln)
|
rs1023827317
|
0.00001
|
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys)
|
rs150754372
|
0.00001
|
NC_000023.11:g.86041956_86048370inv
|
|
|
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
|
|
|
NM_000390.2:c.315_702del
|
|
|
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)
|
rs1603262410
|
|
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)
|
rs2147663153
|
|
NM_000390.4(CHM):c.116+1G>A
|
rs786204761
|
|
NM_000390.4(CHM):c.116+1G>T
|
rs786204761
|
|
NM_000390.4(CHM):c.1166+1G>C
|
rs2147662906
|
|
NM_000390.4(CHM):c.1168_1244+1del
|
|
|
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
|
|
|
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)
|
rs1556277815
|
|
NM_000390.4(CHM):c.1245-8_1245-6del
|
rs766694606
|
|
NM_000390.4(CHM):c.1275G>C (p.Gln425His)
|
rs763252149
|
|
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
|
|
|
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)
|
rs1603244690
|
|
NM_000390.4(CHM):c.1350-1G>A
|
rs2148153587
|
|
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)
|
rs132630263
|
|
NM_000390.4(CHM):c.1359C>T (p.Ser453=)
|
rs2148153518
|
|
NM_000390.4(CHM):c.1402del (p.Ser468fs)
|
|
|
NM_000390.4(CHM):c.1413+1G>T
|
rs1926202120
|
|
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)
|
rs132630265
|
|
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)
|
rs132630264
|
|
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)
|
rs132630267
|
|
NM_000390.4(CHM):c.1511-6del
|
rs775072539
|
|
NM_000390.4(CHM):c.1520A>G (p.His507Arg)
|
rs397514603
|
|
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
|
|
|
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)
|
rs1603236385
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)
|
rs1603234322
|
|
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)
|
rs1924193863
|
|
NM_000390.4(CHM):c.1680del (p.Ser561fs)
|
rs1556207100
|
|
NM_000390.4(CHM):c.1714G>A (p.Val572Ile)
|
rs2148120495
|
|
NM_000390.4(CHM):c.187C>T (p.Gln63Ter)
|
rs1931625420
|
|
NM_000390.4(CHM):c.1920G>A (p.Lys640=)
|
rs748006115
|
|
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln)
|
rs1168750683
|
|
NM_000390.4(CHM):c.1A>G (p.Met1Val)
|
rs1057516265
|
|
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
|
rs1603288832
|
|
NM_000390.4(CHM):c.232C>T (p.Gln78Ter)
|
rs2147706580
|
|
NM_000390.4(CHM):c.280del (p.Thr94fs)
|
rs1555958073
|
|
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
|
|
|
NM_000390.4(CHM):c.29_30del (p.Asp10fs)
|
rs1603288815
|
|
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter)
|
rs897855683
|
|
NM_000390.4(CHM):c.315-1536A>G
|
rs1555955061
|
|
NM_000390.4(CHM):c.498_499dup (p.Leu167fs)
|
rs1930428430
|
|
NM_000390.4(CHM):c.525_526del (p.Glu177fs)
|
rs886041177
|
|
NM_000390.4(CHM):c.539del (p.Asn180fs)
|
rs1930424354
|
|
NM_000390.4(CHM):c.564_565del (p.Pro189fs)
|
rs1603264449
|
|
NM_000390.4(CHM):c.591T>C (p.Ser197=)
|
rs1429958944
|
|
NM_000390.4(CHM):c.5C>T (p.Ala2Val)
|
rs1185313651
|
|
NM_000390.4(CHM):c.652_655del (p.Ser218fs)
|
rs1930413413
|
|
NM_000390.4(CHM):c.660del (p.Ile221fs)
|
rs1603264410
|
|
NM_000390.4(CHM):c.6G>T (p.Ala2=)
|
rs773939161
|
|
NM_000390.4(CHM):c.703-2A>G
|
rs2147667674
|
|
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
|
|
|
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
|
rs776256380
|
|
NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
|
|
|
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
|
|
|
NM_000390.4(CHM):c.799C>T (p.Arg267Ter)
|
rs886041179
|
|
NM_000390.4(CHM):c.808C>T (p.Arg270Ter)
|
rs527236048
|
|
NM_000390.4(CHM):c.819+1G>C
|
rs1603263147
|
|
NM_000390.4(CHM):c.820-2A>G
|
rs1556307713
|
|
NM_000390.4(CHM):c.82_83del (p.Ser28fs)
|
|
|
NM_000390.4(CHM):c.83C>G (p.Ser28Ter)
|
rs2147791162
|
|
NM_000390.4(CHM):c.846dup (p.Asn283Ter)
|
rs2147665855
|
|
NM_000390.4(CHM):c.856C>T (p.Gln286Ter)
|
rs2147665799
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000390.4(CHM):c.926C>T (p.Pro309Leu)
|
rs1930084200
|
|
NM_000390.4(CHM):c.941-1G>A
|
|
|
NM_000390.4(CHM):c.961del (p.Tyr321fs)
|
rs2147663454
|
|
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)
|
|
|
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
|
|
|