NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)
|
rs781745214
|
0.00001
|
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del
|
|
|
NM_000051.4(ATM):c.2441del (p.Asp814fs)
|
rs1565400045
|
|
NM_000051.4(ATM):c.5696dup (p.Cys1899fs)
|
rs1565486028
|
|
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs)
|
rs1593909229
|
|
NM_000133.4(F9):c.241_242del (p.Asn80_Thr81insTer)
|
rs1603264246
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000161.3(GCH1):c.126dup (p.Glu43fs)
|
rs1566687487
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.952_962del (p.Glu318fs)
|
rs1064793185
|
|
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)
|
rs1114167435
|
|
NM_000251.3(MSH2):c.2382del (p.Pro795fs)
|
rs1573574436
|
|
NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter)
|
rs2095885868
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter)
|
rs1554897879
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs)
|
rs1553414600
|
|
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter)
|
rs1567155145
|
|
NM_001009944.3(PKD1):c.7818dup (p.His2607fs)
|
rs1555452653
|
|
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter)
|
rs1597715477
|
|
NM_001042492.3(NF1):c.84del (p.Asn29fs)
|
rs1555604877
|
|
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)
|
rs1057516051
|
|
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu)
|
rs267607001
|
|
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs)
|
rs1565278132
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
NM_001267550.2(TTN):c.68022del (p.Glu22675fs)
|
rs2047085522
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs)
|
rs1575663327
|
|
NM_001267550.2(TTN):c.85519dup (p.Met28507fs)
|
rs1575614351
|
|
NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter)
|
rs1591901585
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)
|
rs1597597437
|
|
NM_003673.4(TCAP):c.90_91del (p.Ser31fs)
|
rs1555606976
|
|
NM_004006.3(DMD):c.1150-14_1158dup
|
|
|
NM_004006.3(DMD):c.2949+1G>T
|
rs1557374482
|
|
NM_004006.3(DMD):c.3004dup (p.Thr1002fs)
|
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter)
|
rs1057516028
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
NM_004006.3(DMD):c.7580T>A (p.Leu2527Ter)
|
rs1603452200
|
|
NM_004006.3(DMD):c.9110del (p.Gln3037fs)
|
|
|
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
|
|
|
NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs)
|
rs886044913
|
|
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs)
|
rs1593133607
|
|
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
|
|
|
NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)
|
rs2075396572
|
|
NM_015295.3(SMCHD1):c.4346+1G>T
|
rs2143632512
|
|
NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)
|
rs1329504858
|
|
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs)
|
rs1555460584
|
|
NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)
|
|
|