NM_000500.9(CYP21A2):c.447+38C>T
|
rs6466
|
0.27535
|
NM_000500.9(CYP21A2):c.293-80G>A
|
rs79249676
|
0.01774
|
NM_000500.9(CYP21A2):c.203-46C>T
|
rs6452
|
0.01305
|
NM_000500.9(CYP21A2):c.1223-21C>T
|
rs755724055
|
0.00535
|
NM_000500.9(CYP21A2):c.447+39G>A
|
rs569670804
|
0.00249
|
NM_000500.9(CYP21A2):c.292+56T>G
|
rs543633765
|
0.00139
|
NM_000500.9(CYP21A2):c.292+37T>A
|
rs184177366
|
0.00058
|
NM_000500.9(CYP21A2):c.651+30G>A
|
rs777741541
|
0.00019
|
NM_000500.9(CYP21A2):c.448-50G>A
|
rs780875791
|
0.00006
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000500.9(CYP21A2):c.652-5C>T
|
rs758449746
|
0.00004
|
NM_000500.9(CYP21A2):c.293-88G>A
|
rs1282239643
|
0.00003
|
NM_000500.9(CYP21A2):c.738+75C>T
|
rs1463196531
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly)
|
rs1436972952
|
0.00001
|
NM_000500.9(CYP21A2):c.293-131_293-129dup
|
rs1219292422
|
0.00001
|
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=)
|
rs1433029679
|
0.00001
|
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly)
|
rs1229809778
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)
|
rs730881521
|
|
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter)
|
rs397507662
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)
|
rs730882168
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)
|
rs397507814
|
|
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)
|
rs397507833
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
rs56383036
|
|
NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)
|
rs730882169
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000384.3(APOB):c.3446A>G (p.Gln1149Arg)
|
rs2103362933
|
|
NM_000500.9(CYP21A2):c.*18C>T
|
rs1582314321
|
|
NM_000500.9(CYP21A2):c.*2G>C
|
rs1182749183
|
|
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro)
|
rs376421504
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)
|
rs1582311004
|
|
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)
|
rs1451687726
|
|
NM_000500.9(CYP21A2):c.1223-3C>G
|
rs6460
|
|
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter)
|
rs1367112998
|
|
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser)
|
rs1582312633
|
|
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg)
|
rs751456004
|
|
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=)
|
rs1188690556
|
|
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu)
|
rs1257180779
|
|
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)
|
rs1240539721
|
|
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr)
|
rs776989258
|
|
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
|
rs779791105
|
|
NM_000500.9(CYP21A2):c.203-18G>C
|
rs1582300565
|
|
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser)
|
rs1185350916
|
|
NM_000500.9(CYP21A2):c.292+109C>G
|
rs1582301551
|
|
NM_000500.9(CYP21A2):c.292+3A>G
|
rs752771213
|
|
NM_000500.9(CYP21A2):c.292+45_292+46insTGT
|
rs1422458709
|
|
NM_000500.9(CYP21A2):c.293-100_293-99insG
|
rs1582301904
|
|
NM_000500.9(CYP21A2):c.293-115C>G
|
rs1582301787
|
|
NM_000500.9(CYP21A2):c.293-130C>T
|
rs1582301718
|
|
NM_000500.9(CYP21A2):c.293-136C>T
|
rs1582301685
|
|
NM_000500.9(CYP21A2):c.293-89A>G
|
rs1582302040
|
|
NM_000500.9(CYP21A2):c.293-91G>A
|
rs1051507539
|
|
NM_000500.9(CYP21A2):c.293-94T>A
|
rs1582301962
|
|
NM_000500.9(CYP21A2):c.293-95G>C
|
rs1382005578
|
|
NM_000500.9(CYP21A2):c.293-96G>T
|
rs1582301922
|
|
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=)
|
rs1258749689
|
|
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=)
|
rs1582303392
|
|
NM_000500.9(CYP21A2):c.448-3C>T
|
rs1582304092
|
|
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val)
|
rs1582304416
|
|
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)
|
rs1582304441
|
|
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr)
|
rs1582304457
|
|
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu)
|
rs1185695713
|
|
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter)
|
rs1582304536
|
|
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu)
|
rs777946906
|
|
NM_000500.9(CYP21A2):c.550-19C>G
|
rs1582305066
|
|
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
|
rs1582305275
|
|
NM_000500.9(CYP21A2):c.651+35A>G
|
rs12525076
|
|
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)
|
rs1582306855
|
|
NM_000500.9(CYP21A2):c.739-74G>A
|
rs1582307366
|
|
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)
|
rs182942340
|
|
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)
|
rs570785206
|
|
NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del
|
|
|
NM_000527.5(LDLR):c.1214A>T (p.Asn405Ile)
|
rs879254836
|
|
NM_000527.5(LDLR):c.1253A>G (p.Glu418Gly)
|
rs2147247251
|
|
NM_000527.5(LDLR):c.1586+1G>C
|
rs755389753
|
|
NM_000527.5(LDLR):c.1706-2A>G
|
rs878854027
|
|
NM_000527.5(LDLR):c.1846-11T>A
|
rs2147264751
|
|
NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs)
|
rs2147265360
|
|
NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
NM_001042492.3(NF1):c.1722-11T>G
|
rs2066961306
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2326-6T>G
|
rs1597713670
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.289-6T>G
|
rs757074803
|
|
NM_001042492.3(NF1):c.3315-3C>G
|
rs752318318
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA
|
rs2069724056
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs)
|
rs2151189840
|
|
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)
|
rs1057519577
|
|
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)
|
rs1057518645
|
|
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)
|
rs1057519578
|
|
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
|
rs1057519579
|
|
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
|
rs1057519580
|
|
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)
|
rs1060499554
|
|
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)
|
rs1057519025
|
|
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)
|
rs1057518643
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
|
NM_001733.7(C1R):c.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)
|
rs1057519576
|
|
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)
|
rs1057518646
|
|
NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
|
rs769707492
|
|
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
|
rs886040975
|
|
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)
|
rs886040974
|
|
NM_007294.4(BRCA1):c.(5193+1_5194-1)_(5277+1_5278-1)del
|
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)
|
rs80356971
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)
|
rs730882164
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)
|
rs730882165
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs)
|
rs730882167
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_015627.3(LDLRAP1):c.327G>T (p.Glu109Asp)
|
rs2044165165
|
|