NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00009
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_001943.5(DSG2):c.1652-1G>A
|
rs1382430464
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
|
rs63751457
|
0.00004
|
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)
|
rs755312623
|
0.00004
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys)
|
rs1202784860
|
0.00003
|
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)
|
rs541910371
|
0.00003
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000133.4(F9):c.459G>A (p.Val153=)
|
rs144314232
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)
|
rs370854023
|
0.00001
|
NM_001261.4(CDK9):c.673C>T (p.Arg225Cys)
|
rs767418586
|
0.00001
|
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter)
|
rs1192554889
|
0.00001
|
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
|
rs544861971
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)
|
rs727504567
|
0.00001
|
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
|
rs796052850
|
0.00001
|
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)
|
rs375941259
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3
|
|
|
GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3
|
|
|
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3
|
|
|
GRCh37/hg19 10q25.2(chr10:112516278-112583094)x1
|
|
|
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)
|
|
|
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3
|
|
|
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3
|
|
|
GRCh37/hg19 11q13.4(chr11:70403217-70698405)x1
|
|
|
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)
|
|
|
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1
|
|
|
GRCh37/hg19 12q12(chr12:46207100-46242644)
|
|
|
GRCh37/hg19 12q15(chr12:70430549-70988542)x1
|
|
|
GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1
|
|
|
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)
|
|
|
GRCh37/hg19 12q24.21(chr12:116374312-116535323)
|
|
|
GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1
|
|
|
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)
|
|
|
GRCh37/hg19 13q13.1(chr13:32668491-32709676)
|
|
|
GRCh37/hg19 13q13.3(chr13:35531798-39607778)
|
|
|
GRCh37/hg19 13q32.3(chr13:101167705-101265053)
|
|
|
GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:30943854-31171177)
|
|
|
GRCh37/hg19 16p13.13(chr16:11632852-11714575)
|
|
|
GRCh37/hg19 17p13.3(chr17:1036474-1277162)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3
|
|
|
GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1
|
|
|
GRCh37/hg19 18q21.2(chr18:53277008-53428347)
|
|
|
GRCh37/hg19 18q21.2(chr18:53289889-53383013)
|
|
|
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3
|
|
|
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3
|
|
|
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)
|
|
|
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3
|
|
|
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)
|
|
|
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)
|
|
|
GRCh37/hg19 1q23.3(chr1:161207984-161404272)
|
|
|
GRCh37/hg19 1q23.3(chr1:161224742-161415981)x3
|
|
|
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1
|
|
|
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3
|
|
|
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)
|
|
|
GRCh37/hg19 1q42.13(chr1:229555499-229577325)
|
|
|
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3
|
|
|
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)
|
|
|
GRCh37/hg19 20p13(chr20:404407-483858)x1
|
|
|
GRCh37/hg19 20p13(chr20:61568-806878)
|
|
|
GRCh37/hg19 22q12.2(chr22:32097774-32162022)x1
|
|
|
GRCh37/hg19 22q13.1(chr22:38116341-38369048)
|
|
|
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1
|
|
|
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1
|
|
|
GRCh37/hg19 2p22.2(chr2:36732352-36824417)x1
|
|
|
GRCh37/hg19 2p22.2(chr2:36768262-36961723)x1
|
|
|
GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1
|
|
|
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3
|
|
|
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)
|
|
|
GRCh37/hg19 2q23.3(chr2:150606201-153038451)
|
|
|
GRCh37/hg19 2q37.1(chr2:232215111-235593473)
|
|
|
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)
|
|
|
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)
|
|
|
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3
|
|
|
GRCh37/hg19 4q21.23(chr4:85821886-86397283)x1
|
|
|
GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3
|
|
|
GRCh37/hg19 4q25-26(chr4:112849108-115434557)
|
|
|
GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1
|
|
|
GRCh37/hg19 5p15.2(chr5:14300651-14379344)x1
|
|
|
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1
|
|
|
GRCh37/hg19 5q15(chr5:92845157-93475376)x1
|
|
|
GRCh37/hg19 6p22.3(chr6:16348584-16559316)
|
|
|
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)
|
|
|
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3
|
|
|
GRCh37/hg19 6q23.3(chr6:135710693-135735779)
|
|
|
GRCh37/hg19 6q24.1-24.2(chr6:140486733-143341271)
|
|
|
GRCh37/hg19 6q27(chr6:170158867-170919482)x1
|
|
|
GRCh37/hg19 6q27(chr6:170230181-170919482)
|
|
|
GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1
|
|
|
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)
|
|
|
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)
|
|
|
GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3
|
|
|
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1
|
|
|
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)
|
|
|
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1
|
|
|
GRCh37/hg19 9p21.2(chr9:27209491-27267535)x1
|
|
|
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)
|
|
|
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)
|
|
|
GRCh37/hg19 Xp11.22(chrX:53797930-54608609)
|
|
|
GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31761311-31858935)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31776812-31899686)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31881035-31993637)
|
|
|
GRCh37/hg19 Xp22.12(chrX:19819871-20222167)
|
|
|
GRCh37/hg19 Xp22.12(chrX:19911680-20289993)
|
|
|
GRCh37/hg19 Xp22.32(chrX:5746197-5814098)
|
|
|
GRCh37/hg19 Xq12-13.1(chrX:67570138-68576809)
|
|
|
GRCh37/hg19 Xq21.1(chrX:79898147-80011045)
|
|
|
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)
|
|
|
GRCh37/hg19 Xq27.1-27.3(chrX:139493805-145133362)
|
|
|
GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395)
|
|
|
GRCh37/hg19 Xq28(chrX:147573781-147628228)
|
|
|
NC_000001.11:g.10115497_16283149dup
|
|
|
NC_000010.11:g.71645832del
|
rs1589292855
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
|
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)
|
rs1555152796
|
|
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs)
|
rs1554087314
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly)
|
rs1557238588
|
|
NM_000059.4(BRCA2):c.5511dup (p.Glu1838Ter)
|
rs2137518141
|
|
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs)
|
rs2137557686
|
|
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter)
|
rs1555286423
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000061.3(BTK):c.1103-2A>G
|
rs1603005659
|
|
NM_000061.3(BTK):c.484_500del (p.Ala162fs)
|
rs1603010333
|
|
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu)
|
rs1555574123
|
|
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser)
|
rs72648339
|
|
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)
|
rs1598295066
|
|
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1])
|
rs1555572458
|
|
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr)
|
rs1555571536
|
|
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser)
|
rs1584321194
|
|
NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala)
|
rs1554792005
|
|
NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del)
|
rs1601055900
|
|
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg)
|
rs1601053997
|
|
NM_000132.4(F8):c.1778T>A (p.Ile593Asn)
|
rs1557280964
|
|
NM_000133.4(F9):c.1144T>A (p.Cys382Ser)
|
rs137852260
|
|
NM_000133.4(F9):c.1174A>G (p.Asn392Asp)
|
rs1603267412
|
|
NM_000133.4(F9):c.1256T>G (p.Val419Gly)
|
rs137852280
|
|
NM_000133.4(F9):c.1290C>A (p.Ser430Arg)
|
rs762229532
|
|
NM_000133.4(F9):c.190T>C (p.Cys64Arg)
|
rs137852224
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
NM_000133.4(F9):c.803G>T (p.Cys268Phe)
|
rs1603267195
|
|
NM_000133.4(F9):c.88+5_88+8del
|
rs1603263399
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.3342TGA[1] (p.Asp1115del)
|
rs1597563323
|
|
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr)
|
rs1597529826
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.556C>A (p.His186Asn)
|
rs111033725
|
|
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
|
rs111033765
|
|
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
|
rs1131691505
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr)
|
rs1599881881
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter)
|
rs775479779
|
|
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile)
|
rs199472905
|
|
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)
|
rs104895208
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
|
rs398123271
|
|
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
|
rs143023066
|
|
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)
|
rs1561959114
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)
|
rs397516040
|
|
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln)
|
rs4981473
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)
|
rs1559614730
|
|
NM_000314.8(PTEN):c.635-1G>T
|
rs876661024
|
|
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu)
|
rs1554825207
|
|
NM_000321.3(RB1):c.1390-2A>G
|
rs1555286568
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter)
|
rs1570387558
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000355.4(TCN2):c.766_767dup (p.Met258fs)
|
rs1555895069
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000384.3(APOB):c.13020T>G (p.Tyr4340Ter)
|
rs141339310
|
|
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)
|
rs864622273
|
|
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)
|
rs370107958
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly)
|
rs1555729589
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly)
|
rs1599394654
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs)
|
rs1562929573
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000516.7(GNAS):c.1006dup (p.Arg336fs)
|
rs1569031388
|
|
NM_000518.5(HBB):c.235del (p.Leu79fs)
|
rs281865475
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000531.6(OTC):c.167T>C (p.Met56Thr)
|
rs72554320
|
|
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)
|
rs1424131846
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.557_559+2delinsGGGG
|
rs1567552467
|
|
NM_000546.6(TP53):c.559+2del
|
rs1567552459
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.869G>T (p.Arg290Leu)
|
rs55819519
|
|
NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro)
|
rs61749385
|
|
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys)
|
rs267607347
|
|
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu)
|
rs33931314
|
|
NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs)
|
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg)
|
rs752039618
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4724+1G>A
|
rs1555619056
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
|
rs1597866846
|
|
NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr)
|
rs1555108112
|
|
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn)
|
rs1571894217
|
|
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly)
|
rs1554810223
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001163809.2(WDR81):c.5326-1G>A
|
rs2151177215
|
|
NM_001182.5(ALDH7A1):c.1548C>A (p.Tyr516Ter)
|
|
|
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs)
|
rs1135402760
|
|
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)
|
rs1554904772
|
|
NM_001267550.2(TTN):c.87616G>T (p.Glu29206Ter)
|
rs1364550008
|
|
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs)
|
rs1553526134
|
|
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs)
|
rs1553526116
|
|
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)
|
rs1228403814
|
|
NM_001370259.2(MEN1):c.1391del (p.Ala464fs)
|
rs1555163858
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370658.1(BTD):c.248del (p.Lys83fs)
|
rs1553652177
|
|
NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser)
|
|
|
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg)
|
rs1085308010
|
|
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr)
|
rs869312667
|
|
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter)
|
rs878853169
|
|
NM_001385012.1(NBEA):c.955G>T (p.Asp319Tyr)
|
rs2152563427
|
|
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter)
|
rs1553815325
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg)
|
rs28937587
|
|
NM_001457.4(FLNB):c.502G>T (p.Gly168Cys)
|
rs80356504
|
|
NM_001492.6(GDF1):c.768_823del (p.Pro257fs)
|
|
|
NM_001540.5(HSPB1):c.512del (p.Lys171fs)
|
rs1554614680
|
|
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)
|
rs759224338
|
|
NM_001770.6(CD19):c.1303+1G>C
|
rs372929312
|
|
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val)
|
rs1555167372
|
|
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)
|
rs794727472
|
|
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala)
|
rs1592214400
|
|
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)
|
rs1555165245
|
|
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg)
|
rs1555165237
|
|
NM_001972.4(ELANE):c.641G>T (p.Gly214Val)
|
rs1555710089
|
|
NM_002397.5(MEF2C):c.1095G>C (p.Gln365His)
|
rs1581321362
|
|
NM_002693.3(POLG):c.3409dup (p.Val1137fs)
|
rs1555452461
|
|
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro)
|
rs1554499091
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
NM_002971.6(SATB1):c.1280G>A (p.Arg427Gln)
|
|
|
NM_003051.4(SLC16A1):c.97T>N (p.Ser33Xaa)
|
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)
|
rs1575166666
|
|
NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)
|
rs2141125120
|
|
NM_004004.6(GJB2):c.193T>C (p.Tyr65His)
|
rs886037849
|
|
NM_004006.3(DMD):c.5922+4A>G
|
rs1603631218
|
|
NM_004093.4(EFNB2):c.219T>G (p.Tyr73Ter)
|
rs1879182475
|
|
NM_004380.3(CREBBP):c.2464-2A>G
|
|
|
NM_004444.5(EPHB4):c.2450G>A (p.Gly817Glu)
|
rs1584653660
|
|
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg)
|
rs1584653054
|
|
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)
|
rs769965440
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005269.3(GLI1):c.1796del (p.Gly599fs)
|
rs758888293
|
|
NM_005535.3(IL12RB1):c.1021+1G>A
|
|
|
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu)
|
|
|
NM_006586.5(CNPY3):c.496-3_496-2del
|
rs1581718297
|
|
NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp)
|
rs1554987311
|
|
NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)
|
rs797046005
|
|
NM_007103.4(NDUFV1):c.155+1G>A
|
rs1565224383
|
|
NM_007294.4(BRCA1):c.4321G>A (p.Asp1441Asn)
|
|
|
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)
|
rs1057523861
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_015404.4(WHRN):c.837+1del
|
rs749910508
|
|
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_015713.5(RRM2B):c.184T>N (p.Ser62Xaa)
|
|
|
NM_015937.6(PIGT):c.1724_1725insA (p.Leu578fs)
|
rs2145478387
|
|
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs)
|
rs1332576936
|
|
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs)
|
rs1305675114
|
|
NM_016485.5(VTA1):c.52C>T (p.Gln18Ter)
|
|
|
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)
|
rs1586426507
|
|
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)
|
rs1554817910
|
|
NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu)
|
rs1588359968
|
|
NM_024675.4(PALB2):c.1939_1940insT (p.His647fs)
|
rs1966863209
|
|
NM_024675.4(PALB2):c.2127_2128del (p.Thr710fs)
|
rs2142380442
|
|
NM_024753.5(TTC21B):c.370_380del (p.His124fs)
|
rs1237271536
|
|
NM_030632.3(ASXL3):c.4806_4809dup (p.Ser1604fs)
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032141.4(NSRP1):c.24T>G (p.Tyr8Ter)
|
|
|
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg)
|
rs104886196
|
|
NM_033380.3(COL4A5):c.800G>T (p.Gly267Val)
|
rs1556406775
|
|
NM_170707.4(LMNA):c.3G>C (p.Met1Ile)
|
rs794728598
|
|
NM_177438.3(DICER1):c.2461C>T (p.Arg821Cys)
|
rs1891611876
|
|
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu)
|
rs368343829
|
|
NM_177438.3(DICER1):c.5604-1G>A
|
rs1889714810
|
|
NM_177438.3(DICER1):c.5729G>A (p.Arg1910Gln)
|
rs1555365979
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
Single allele
|
|
|