NM_015295.3(SMCHD1):c.1040+1G>A
|
rs1245372794
|
0.00001
|
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)
|
rs397518422
|
0.00001
|
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)
|
rs1224850132
|
0.00001
|
NC_000018.9:g.(?_2656075)_(2656280_?)del
|
|
|
NC_000018.9:g.(?_2656075)_(2688765_?)del
|
|
|
NC_000018.9:g.(?_2666136)_(2667050_?)del
|
|
|
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)
|
rs886041918
|
|
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)
|
rs377471712
|
|
NM_015295.3(SMCHD1):c.1199del (p.Gln400fs)
|
|
|
NM_015295.3(SMCHD1):c.1282del (p.Arg428fs)
|
rs2143155004
|
|
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)
|
rs387907319
|
|
NM_015295.3(SMCHD1):c.1314_1317del (p.Tyr439fs)
|
|
|
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)
|
rs2143182200
|
|
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
|
|
|
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)
|
rs1057519614
|
|
NM_015295.3(SMCHD1):c.1647+3A>G
|
rs2143184995
|
|
NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs)
|
rs2073052786
|
|
NM_015295.3(SMCHD1):c.1886dup (p.Arg630fs)
|
rs2143233837
|
|
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)
|
rs397514623
|
|
NM_015295.3(SMCHD1):c.2078dup (p.Leu693fs)
|
rs2143255337
|
|
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)
|
rs2074549354
|
|
NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs)
|
rs2074555124
|
|
NM_015295.3(SMCHD1):c.2335dup (p.Met779fs)
|
|
|
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)
|
rs2143801614
|
|
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)
|
|
|
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)
|
rs2143438994
|
|
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)
|
|
|
NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs)
|
rs2075160048
|
|
NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs)
|
rs2075161300
|
|
NM_015295.3(SMCHD1):c.3274_3276+1del
|
rs2075161459
|
|
NM_015295.3(SMCHD1):c.3276_3276+4del
|
rs1555642277
|
|
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)
|
rs2143805963
|
|
NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs)
|
rs2075307655
|
|
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)
|
rs2075308386
|
|
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)
|
rs1555644339
|
|
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)
|
rs924153704
|
|
NM_015295.3(SMCHD1):c.3772_3773insA (p.Leu1258fs)
|
rs2143570702
|
|
NM_015295.3(SMCHD1):c.3784_3788del (p.Trp1262fs)
|
|
|
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)
|
|
|
NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
|
|
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
|
|
|
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)
|
rs1057519643
|
|
NM_015295.3(SMCHD1):c.4104del (p.Val1369fs)
|
rs1555647265
|
|
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)
|
rs1057519644
|
|
NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs)
|
rs2075566961
|
|
NM_015295.3(SMCHD1):c.444_447del (p.Ile149fs)
|
|
|
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)
|
rs1598416221
|
|
NM_015295.3(SMCHD1):c.4821dup (p.Ile1608fs)
|
rs1568350731
|
|
NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)
|
|
|
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter)
|
rs867694014
|
|
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)
|
rs2073049380
|
|