NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)
|
rs1554820262
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)
|
rs1554710890
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001370259.2(MEN1):c.654+1del
|
rs1057518903
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)
|
rs1724332515
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)
|
rs1816433701
|
|
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
|
rs765548101
|
|
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
|
rs1554079046
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.990-1G>A
|
rs1554518790
|
|