NM_000388.4(CASR):c.2244= (p.Pro748=)
|
rs1553769059
|
0.99999
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
NM_000388.4(CASR):c.493-133T>C
|
rs3749207
|
0.55530
|
NM_000388.4(CASR):c.1609-89C>T
|
rs4678174
|
0.55250
|
NM_000388.4(CASR):c.493-91C>T
|
rs3749208
|
0.27432
|
NM_000388.4(CASR):c.1732+16T>C
|
rs2270916
|
0.11379
|
NM_000388.4(CASR):c.1608+52G>A
|
rs2279802
|
0.08999
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
|
rs117375173
|
0.00128
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_000388.4(CASR):c.906C>T (p.Ser302=)
|
rs201067850
|
0.00063
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_000388.4(CASR):c.1110G>A (p.Val370=)
|
rs150412204
|
0.00027
|
NM_000388.4(CASR):c.885C>T (p.Ala295=)
|
rs147307274
|
0.00026
|
NM_000388.4(CASR):c.573G>A (p.Glu191=)
|
rs141631116
|
0.00016
|
NM_000388.4(CASR):c.1752G>A (p.Lys584=)
|
rs138638329
|
0.00014
|
NM_000388.4(CASR):c.546T>A (p.Ser182=)
|
rs200545177
|
0.00014
|
NM_000388.4(CASR):c.1287C>T (p.His429=)
|
rs746515147
|
0.00013
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)
|
rs200382161
|
0.00010
|
NM_000388.4(CASR):c.114T>C (p.Phe38=)
|
rs61733590
|
0.00009
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)
|
rs150979829
|
0.00006
|
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)
|
rs1060502848
|
0.00006
|
NM_000388.4(CASR):c.165G>A (p.Pro55=)
|
rs200018529
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp)
|
rs760506005
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.1668G>A (p.Glu556=)
|
rs186279271
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)
|
rs762998933
|
0.00003
|
NM_000388.4(CASR):c.1456G>T (p.Val486Leu)
|
rs201829972
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.57C>T (p.Ala19=)
|
rs761576251
|
0.00002
|
NM_000388.4(CASR):c.613C>T (p.Arg205Cys)
|
rs775751453
|
0.00002
|
NM_000388.4(CASR):c.845A>G (p.Glu282Gly)
|
rs751540983
|
0.00002
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
NM_000388.4(CASR):c.-10C>T
|
rs753659949
|
0.00001
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser)
|
rs201520875
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile)
|
rs145042469
|
0.00001
|
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)
|
rs193922423
|
0.00001
|
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)
|
rs886041637
|
0.00001
|
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)
|
rs1358793834
|
0.00001
|
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)
|
rs1060502842
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)
|
rs767363250
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2102G>A (p.Arg701His)
|
rs1284532044
|
0.00001
|
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr)
|
rs199508583
|
0.00001
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000388.4(CASR):c.2672G>A (p.Arg891His)
|
rs533567836
|
0.00001
|
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)
|
rs201517907
|
0.00001
|
NM_000388.4(CASR):c.2829G>A (p.Gln943=)
|
rs764614440
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly)
|
rs766653315
|
0.00001
|
NM_000388.4(CASR):c.3132G>A (p.Val1044=)
|
rs755277801
|
0.00001
|
NM_000388.4(CASR):c.363T>A (p.Asp121Glu)
|
rs201923228
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
NM_000388.4(CASR):c.548T>C (p.Phe183Ser)
|
rs1064794824
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.939G>A (p.Val313=)
|
rs750302987
|
0.00001
|
GRCh37/hg19 3q21.1(chr3:121933635-121943859)x1
|
|
|
GRCh37/hg19 3q21.1(chr3:121976494-121978343)x4
|
|
|
GRCh37/hg19 3q21.1(chr3:121976494-121979229)x4
|
|
|
NM_000388.4(CASR):c.*60A>T
|
rs4677948
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1054T>G (p.Trp352Gly)
|
|
|
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)
|
rs2107632822
|
|
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr)
|
rs387907392
|
|
NM_000388.4(CASR):c.1074C>T (p.Cys358=)
|
rs886044221
|
|
NM_000388.4(CASR):c.1076A>T (p.His359Leu)
|
rs1576859031
|
|
NM_000388.4(CASR):c.108dup (p.Leu37fs)
|
rs886041823
|
|
NM_000388.4(CASR):c.1108G>A (p.Val370Met)
|
rs2074634164
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)
|
rs1559959758
|
|
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)
|
rs1057517712
|
|
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg)
|
rs755403770
|
|
NM_000388.4(CASR):c.1209T>C (p.Ser403=)
|
rs387907400
|
|
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)
|
rs193922421
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg)
|
rs1559959958
|
|
NM_000388.4(CASR):c.1340G>T (p.Gly447Val)
|
|
|
NM_000388.4(CASR):c.134C>A (p.Ala45Glu)
|
rs779995504
|
|
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)
|
rs2107633334
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.1395G>A (p.Arg465=)
|
rs387907391
|
|
NM_000388.4(CASR):c.1459G>A (p.Gly487Arg)
|
rs1559965137
|
|
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp)
|
rs1576870447
|
|
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_000388.4(CASR):c.1608+5G>A
|
rs2107643797
|
|
NM_000388.4(CASR):c.1608+5del
|
rs2074816023
|
|
NM_000388.4(CASR):c.1629C>T (p.Ser543=)
|
rs387907399
|
|
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr)
|
rs2107648244
|
|
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)
|
rs886041154
|
|
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)
|
rs104893719
|
|
NM_000388.4(CASR):c.1658G>T (p.Gly553Val)
|
rs1576875807
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)
|
rs1553768726
|
|
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu)
|
rs2074898883
|
|
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser)
|
rs1553768731
|
|
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly)
|
rs1559967708
|
|
NM_000388.4(CASR):c.1732+10C>T
|
rs201859314
|
|
NM_000388.4(CASR):c.1732+1G>T
|
rs1576875919
|
|
NM_000388.4(CASR):c.1747A>G (p.Asn583Asp)
|
|
|
NM_000388.4(CASR):c.1750A>T (p.Lys584Ter)
|
rs1057523748
|
|
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro)
|
rs1553768903
|
|
NM_000388.4(CASR):c.179G>T (p.Cys60Phe)
|
rs772906030
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.1828G>T (p.Glu610Ter)
|
rs1057520557
|
|
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
|
|
|
NM_000388.4(CASR):c.1849del (p.Thr617fs)
|
rs1553768938
|
|
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp)
|
rs2107649545
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
NM_000388.4(CASR):c.1913dup (p.Asn639fs)
|
rs1576877163
|
|
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile)
|
rs1559968450
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
NM_000388.4(CASR):c.1970C>A (p.Ser657Tyr)
|
|
|
NM_000388.4(CASR):c.197G>A (p.Arg66His)
|
rs1276839362
|
|
NM_000388.4(CASR):c.197G>T (p.Arg66Leu)
|
rs1276839362
|
|
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
|
|
|
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg)
|
rs2107649805
|
|
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)
|
rs1553768983
|
|
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg)
|
rs2107649847
|
|
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg)
|
rs2074930161
|
|
NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)
|
|
|
NM_000388.4(CASR):c.2097del (p.Asn700fs)
|
rs1576877427
|
|
NM_000388.4(CASR):c.2101del (p.Arg701fs)
|
rs1553769004
|
|
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro)
|
rs886043656
|
|
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)
|
rs1559968657
|
|
NM_000388.4(CASR):c.2129T>C (p.Ile710Thr)
|
rs2107649977
|
|
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)
|
rs2074932551
|
|
NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs)
|
rs1064793353
|
|
NM_000388.4(CASR):c.2165del (p.Asn722fs)
|
rs1559968729
|
|
NM_000388.4(CASR):c.2229C>T (p.Leu743=)
|
rs372578790
|
|
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)
|
|
|
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)
|
rs193922433
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu)
|
rs193922433
|
|
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys)
|
rs193922434
|
|
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro)
|
rs2074935297
|
|
NM_000388.4(CASR):c.2292G>C (p.Thr764=)
|
rs199615189
|
|
NM_000388.4(CASR):c.2299G>C (p.Glu767Gln)
|
|
|
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)
|
|
|
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg)
|
rs1479933693
|
|
NM_000388.4(CASR):c.2364C>G (p.Phe788Leu)
|
rs886041537
|
|
NM_000388.4(CASR):c.2371G>A (p.Ala791Thr)
|
rs2107650405
|
|
NM_000388.4(CASR):c.2383del (p.Arg795fs)
|
rs2107650417
|
|
NM_000388.4(CASR):c.2392C>T (p.Pro798Ser)
|
rs1576877924
|
|
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp)
|
rs752953216
|
|
NM_000388.4(CASR):c.2404A>C (p.Asn802His)
|
rs2074937924
|
|
NM_000388.4(CASR):c.2431A>G (p.Met811Val)
|
rs1057521129
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter)
|
rs1576878011
|
|
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr)
|
rs1553769120
|
|
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)
|
rs1576878027
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2540G>A (p.Gly847Asp)
|
rs1064794621
|
|
NM_000388.4(CASR):c.2557T>G (p.Phe853Val)
|
rs1576878133
|
|
NM_000388.4(CASR):c.2576T>C (p.Ile859Thr)
|
|
|
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu)
|
rs387907401
|
|
NM_000388.4(CASR):c.2611G>T (p.Glu871Ter)
|
rs1057520646
|
|
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys)
|
rs2074941878
|
|
NM_000388.4(CASR):c.2637C>A (p.His879Gln)
|
rs1576878230
|
|
NM_000388.4(CASR):c.2639C>G (p.Ala880Gly)
|
|
|
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
|
|
|
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)
|
rs1559969429
|
|
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)
|
rs1057520791
|
|
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter)
|
rs2107651172
|
|
NM_000388.4(CASR):c.2796G>A (p.Gln932=)
|
rs1576878515
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
NM_000388.4(CASR):c.2901del (p.Phe968fs)
|
rs2107651486
|
|
NM_000388.4(CASR):c.2920A>T (p.Thr974Ser)
|
rs387907396
|
|
NM_000388.4(CASR):c.2944C>T (p.Pro982Ser)
|
rs387907395
|
|
NM_000388.4(CASR):c.3010del (p.Ser1004fs)
|
rs1131691620
|
|
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)
|
rs1256856876
|
|
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
|
rs202219108
|
|
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg)
|
rs2074953171
|
|
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala)
|
rs387907393
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.323del (p.Leu108fs)
|
rs1559956616
|
|
NM_000388.4(CASR):c.325G>A (p.Glu109Lys)
|
rs868732014
|
|
NM_000388.4(CASR):c.329C>A (p.Ala110Asp)
|
rs1559956624
|
|
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)
|
rs104893691
|
|
NM_000388.4(CASR):c.349C>T (p.Gln117Ter)
|
rs2107627659
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
|
rs121909260
|
|
NM_000388.4(CASR):c.380A>G (p.Glu127Gly)
|
rs121909260
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.422T>C (p.Val141Ala)
|
rs1085307643
|
|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)
|
rs121909264
|
|
NM_000388.4(CASR):c.440C>T (p.Ser147Leu)
|
|
|
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
|
|
|
NM_000388.4(CASR):c.449C>A (p.Ser150Tyr)
|
rs1559956735
|
|
NM_000388.4(CASR):c.449C>T (p.Ser150Phe)
|
rs1559956735
|
|
NM_000388.4(CASR):c.452C>T (p.Thr151Met)
|
rs104893694
|
|
NM_000388.4(CASR):c.467T>C (p.Leu156Pro)
|
rs2107627878
|
|
NM_000388.4(CASR):c.470T>C (p.Leu157Pro)
|
rs1553766286
|
|
NM_000388.4(CASR):c.482A>G (p.Tyr161Cys)
|
|
|
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
|
|
|
NM_000388.4(CASR):c.488C>T (p.Pro163Leu)
|
|
|
NM_000388.4(CASR):c.493-133_493-132del
|
rs2107631536
|
|
NM_000388.4(CASR):c.499T>A (p.Tyr167Asn)
|
rs1064795096
|
|
NM_000388.4(CASR):c.501T>C (p.Tyr167=)
|
rs387907394
|
|
NM_000388.4(CASR):c.509C>G (p.Ser170Cys)
|
|
|
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)
|
rs201851934
|
|
NM_000388.4(CASR):c.518T>C (p.Leu173Pro)
|
rs2107631736
|
|
NM_000388.4(CASR):c.527A>G (p.Asn176Ser)
|
rs1060502849
|
|
NM_000388.4(CASR):c.533A>G (p.Asn178Ser)
|
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.554G>C (p.Arg185Pro)
|
rs104893689
|
|
NM_000388.4(CASR):c.554del (p.Arg185fs)
|
rs193922442
|
|
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)
|
rs1064793992
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000388.4(CASR):c.624G>T (p.Trp208Cys)
|
rs2107631965
|
|
NM_000388.4(CASR):c.638C>T (p.Ala213Val)
|
rs1559958979
|
|
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)
|
rs201091657
|
|
NM_000388.4(CASR):c.650A>G (p.Asp217Gly)
|
rs886041155
|
|
NM_000388.4(CASR):c.652T>G (p.Tyr218Asp)
|
rs1057520583
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)
|
rs1202110240
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.664G>A (p.Gly222Arg)
|
rs2107632066
|
|
NM_000388.4(CASR):c.679C>G (p.Arg227Gly)
|
rs1085307984
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.707G>T (p.Cys236Phe)
|
rs1057518616
|
|
NM_000388.4(CASR):c.725T>C (p.Leu242Pro)
|
rs1064794676
|
|
NM_000388.4(CASR):c.725T>G (p.Leu242Arg)
|
rs1064794676
|
|
NM_000388.4(CASR):c.741dup (p.Asp248Ter)
|
|
|
NM_000388.4(CASR):c.74G>A (p.Arg25Gln)
|
rs568902441
|
|
NM_000388.4(CASR):c.767T>C (p.Val256Ala)
|
rs2074626876
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.823_824del (p.Asp275fs)
|
rs1553766794
|
|
NM_000388.4(CASR):c.879G>T (p.Trp293Cys)
|
rs773142330
|
|
NM_000388.4(CASR):c.888C>T (p.Ser296=)
|
rs759988398
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
NM_000388.4(CASR):c.903del (p.Ser302fs)
|
rs2107632517
|
|
NM_000388.4(CASR):c.920T>C (p.Met307Thr)
|
rs387907397
|
|
NM_000388.4(CASR):c.929A>G (p.Tyr310Cys)
|
rs867475575
|
|
NM_000388.4(CASR):c.92A>G (p.Asp31Gly)
|
rs1064795924
|
|
NM_000388.4(CASR):c.95T>A (p.Ile32Asn)
|
|
|
NM_000388.4(CASR):c.992G>A (p.Arg331Gln)
|
rs747090029
|
|
NM_000388.4(CASR):c.99C>T (p.Ile33=)
|
rs387907398
|
|