NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)
|
rs1045177462
|
0.00001
|
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)
|
rs387907321
|
0.00001
|
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr)
|
rs368581522
|
0.00001
|
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter)
|
rs777752091
|
0.00001
|
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter)
|
rs797045095
|
0.00001
|
NC_000005.9:g.154735732_155604899dup
|
|
|
NC_000005.9:g.155599390_155755985dup
|
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs)
|
rs1588574984
|
|
NM_000264.5(PTCH1):c.456_457del (p.Met152fs)
|
rs1588622713
|
|
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)
|
rs1575362239
|
|
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)
|
rs2151169266
|
|
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
|
|
|
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)
|
rs2064782292
|
|
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
|
|
|
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)
|
rs886041102
|
|
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
|
|
|
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)
|
rs2148495027
|
|
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
|
|
|
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
|
|
|
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
|
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
|
rs1603277433
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)
|
rs782163019
|
|
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)
|
rs2135678282
|
|
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
|
|
|
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)
|
rs1956840371
|
|
NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)
|
|
|
NM_001378778.1(MPDZ):c.2649+1G>A
|
|
|
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter)
|
rs1951349487
|
|
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs)
|
rs751161649
|
|
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter)
|
rs1587149916
|
|
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
|
|
|
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
|
|
|
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs)
|
rs1586841546
|
|
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)
|
rs1576412227
|
|
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)
|
rs1576408057
|
|
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)
|
rs1576408050
|
|
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)
|
rs1576390243
|
|
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)
|
rs1576426439
|
|