NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_033100.4(CDHR1):c.1485+2T>C
|
rs767366723
|
0.00006
|
NM_033100.4(CDHR1):c.525+1G>A
|
rs373412516
|
0.00006
|
NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser)
|
rs748412274
|
0.00006
|
NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)
|
rs373978786
|
0.00004
|
NM_033100.4(CDHR1):c.295del (p.Glu99fs)
|
rs867166472
|
0.00004
|
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)
|
rs794726954
|
0.00003
|
NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter)
|
rs1220602138
|
0.00002
|
NM_033100.4(CDHR1):c.257del (p.Thr86fs)
|
rs1274804688
|
0.00002
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs)
|
rs750895925
|
0.00001
|
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala)
|
rs746501731
|
0.00001
|
NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter)
|
rs142980820
|
0.00001
|
NM_033100.4(CDHR1):c.954_958del (p.His319fs)
|
rs760608593
|
0.00001
|
NC_000010.10:g.(?_85954517)_(85955365_?)del
|
|
|
NC_000010.10:g.(?_85954517)_(85957612_?)del
|
|
|
NC_000010.10:g.(?_85954517)_(85960443_?)del
|
|
|
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)
|
rs1589313739
|
|
NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter)
|
rs1340364290
|
|
NM_033100.4(CDHR1):c.1040del (p.Asn347fs)
|
|
|
NM_033100.4(CDHR1):c.1168-1G>A
|
|
|
NM_033100.4(CDHR1):c.121_122del (p.Leu41fs)
|
|
|
NM_033100.4(CDHR1):c.1220del (p.Arg407fs)
|
rs1842277745
|
|
NM_033100.4(CDHR1):c.1233del (p.Thr412fs)
|
|
|
NM_033100.4(CDHR1):c.1305del (p.Val436fs)
|
|
|
NM_033100.4(CDHR1):c.1311_1316del (p.Leu437_Thr438del)
|
|
|
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)
|
rs1589306127
|
|
NM_033100.4(CDHR1):c.1405del (p.Val469fs)
|
|
|
NM_033100.4(CDHR1):c.1463del (p.Gly488fs)
|
rs756678484
|
|
NM_033100.4(CDHR1):c.1463dup (p.Ser489fs)
|
rs756678484
|
|
NM_033100.4(CDHR1):c.1485+2T>G
|
rs767366723
|
|
NM_033100.4(CDHR1):c.1503_1507del (p.Gly502fs)
|
rs1346965647
|
|
NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter)
|
rs74902839
|
|
NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter)
|
rs547812313
|
|
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)
|
rs1477733493
|
|
NM_033100.4(CDHR1):c.1570_1592del (p.Ser524fs)
|
|
|
NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter)
|
|
|
NM_033100.4(CDHR1):c.1664dup (p.Lys556fs)
|
|
|
NM_033100.4(CDHR1):c.1696dup (p.Leu566fs)
|
|
|
NM_033100.4(CDHR1):c.1709del (p.Asn570fs)
|
|
|
NM_033100.4(CDHR1):c.1782+1del
|
rs1589307705
|
|
NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)
|
|
|
NM_033100.4(CDHR1):c.193_194dup (p.Asp65fs)
|
rs749926328
|
|
NM_033100.4(CDHR1):c.1956del (p.Trp652fs)
|
|
|
NM_033100.4(CDHR1):c.1991del (p.Pro664fs)
|
|
|
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)
|
rs794726954
|
|
NM_033100.4(CDHR1):c.2038G>T (p.Glu680Ter)
|
|
|
NM_033100.4(CDHR1):c.2040+5G>T
|
|
|
NM_033100.4(CDHR1):c.2071_2072delinsTA (p.Leu691Ter)
|
|
|
NM_033100.4(CDHR1):c.2087_2090del (p.Asp696fs)
|
|
|
NM_033100.4(CDHR1):c.2108del (p.Gly703fs)
|
rs2132836781
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033100.4(CDHR1):c.338del (p.Gly113fs)
|
rs747425652
|
|
NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter)
|
rs531420059
|
|
NM_033100.4(CDHR1):c.413del (p.Glu138fs)
|
rs2132795062
|
|
NM_033100.4(CDHR1):c.438+1G>A
|
|
|
NM_033100.4(CDHR1):c.516del (p.Phe173fs)
|
|
|
NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter)
|
rs1486109432
|
|
NM_033100.4(CDHR1):c.525+1G>T
|
rs373412516
|
|
NM_033100.4(CDHR1):c.580del (p.Ala194fs)
|
rs2132803759
|
|
NM_033100.4(CDHR1):c.610del (p.Arg204fs)
|
rs1343744787
|
|
NM_033100.4(CDHR1):c.616del (p.His206fs)
|
rs1183979115
|
|
NM_033100.4(CDHR1):c.713del (p.Asp238fs)
|
|
|
NM_033100.4(CDHR1):c.74del (p.Pro25fs)
|
|
|
NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter)
|
rs769081286
|
|
NM_033100.4(CDHR1):c.782del (p.Pro261fs)
|
rs1842160172
|
|
NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter)
|
rs191858417
|
|
NM_033100.4(CDHR1):c.850del (p.Ser284fs)
|
|
|
NM_033100.4(CDHR1):c.863-1G>A
|
rs886041900
|
|
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)
|
rs1842216995
|
|