NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000314.8(PTEN):c.180del (p.Lys60fs)
|
rs1589640429
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.586del (p.His196fs)
|
rs587776670
|
0.00001
|
C124S
|
|
|
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
|
rs587776672
|
|
NM_000314.7(PTEN):c.-861G>T
|
rs587776675
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro)
|
rs121909230
|
|
NM_000314.8(PTEN):c.347_351del (p.Asp116fs)
|
rs587776666
|
|
NM_000314.8(PTEN):c.368A>G (p.His123Arg)
|
rs121909222
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)
|
rs121909218
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
NM_000314.8(PTEN):c.40dup (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)
|
rs121909220
|
|
NM_000314.8(PTEN):c.492+2T>G
|
rs1554898244
|
|
NM_000314.8(PTEN):c.507del (p.Ser170fs)
|
rs587776673
|
|
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg)
|
rs121909221
|
|
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer)
|
rs397515374
|
|
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)
|
rs121909227
|
|
NM_000314.8(PTEN):c.696del (p.Arg233fs)
|
rs587776669
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)
|
rs121909228
|
|
PTEN, DEL
|
|
|