NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)
|
rs774319202
|
0.00001
|
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
|
|
|
NM_000038.6(APC):c.135+1G>A
|
|
|
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
|
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)
|
rs1460397656
|
|
NM_000038.6(APC):c.4667del (p.Thr1556fs)
|
|
|
NM_000038.6(APC):c.6474del (p.Phe2159fs)
|
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)
|
rs1766600757
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1125del (p.Phe376fs)
|
|
|
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)
|
rs80359293
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)
|
rs886038122
|
|
NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)
|
|
|
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
|
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
rs1593201677
|
|
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)
|
|
|
NM_000090.4(COL3A1):c.1663-1G>T
|
|
|
NM_000090.4(COL3A1):c.1762-1G>T
|
|
|
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)
|
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
|
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
|
|
|
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
|
|
|
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
|
|
|
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
|
|
|
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
|
|
|
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
|
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
|
|
|
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
|
rs797044749
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.457+1G>A
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)
|
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)
|
rs1801410644
|
|
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)
|
rs864622174
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)
|
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)
|
rs1419032418
|
|
NM_000256.3(MYBPC3):c.506-1G>A
|
rs397516056
|
|
NM_000257.4(MYH7):c.4178T>C (p.Leu1393Pro)
|
|
|
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)
|
|
|
NM_000321.3(RB1):c.402dup (p.Leu135fs)
|
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000335.5(SCN5A):c.3388-1G>C
|
|
|
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
|
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)
|
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser)
|
rs879254999
|
|
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)
|
rs879255143
|
|
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)
|
rs879254719
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.706-2A>T
|
rs745487791
|
|
NM_000540.3(RYR1):c.10687-2A>G
|
rs1600930323
|
|
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr)
|
rs2145586397
|
|
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)
|
rs765432081
|
|
NM_000546.6(TP53):c.148dup (p.Ile50fs)
|
rs1567556956
|
|
NM_000546.6(TP53):c.430C>T (p.Gln144Ter)
|
rs757274881
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
NM_000546.6(TP53):c.489_495del (p.Lys164fs)
|
|
|
NM_000546.6(TP53):c.96+1G>C
|
rs1131691003
|
|
NM_000548.5(TSC2):c.-30+1G>C
|
rs587778004
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)
|
rs1555145520
|
|
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
|
rs1830383454
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.991+2T>A
|
|
|
NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)
|
|
|
NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)
|
|
|
NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)
|
|
|
NM_001267550.2(TTN):c.3283del (p.Glu1095fs)
|
|
|
NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)
|
|
|
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
|
|
|
NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)
|
|
|
NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)
|
|
|
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
|
|
|
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
|
|
|
NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)
|
|
|
NM_001267550.2(TTN):c.72463del (p.Ile24155fs)
|
|
|
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
|
|
|
NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)
|
|
|
NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)
|
|
|
NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)
|
|
|
NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)
|
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.91257del (p.Val30420fs)
|
|
|
NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)
|
|
|
NM_001267550.2(TTN):c.95738del (p.Pro31913fs)
|
|
|
NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)
|
|
|
NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)
|
|
|
NM_001458.5(FLNC):c.1714C>T (p.Gln572Ter)
|
|
|
NM_001458.5(FLNC):c.3636C>G (p.Tyr1212Ter)
|
|
|
NM_001458.5(FLNC):c.3790+1G>C
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.5(FLNC):c.4172C>A (p.Ser1391Ter)
|
|
|
NM_001458.5(FLNC):c.711del (p.Glu238fs)
|
|
|
NM_003000.3(SDHB):c.72+2T>G
|
|
|
NM_003002.4(SDHD):c.117del (p.Ile40fs)
|
|
|
NM_004329.3(BMPR1A):c.614C>A (p.Ser205Ter)
|
|
|
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
|
|
|
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
|
|
|
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
|
|
|
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
|
|
|
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
|
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
|
|
|
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
|
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
|
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_024675.4(PALB2):c.1684+1G>T
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)
|
|
|
NM_024675.4(PALB2):c.1933del (p.Glu645fs)
|
|
|
NM_024675.4(PALB2):c.2835-1G>T
|
|
|
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)
|
rs62625271
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|