NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)
|
rs479632
|
0.24653
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
|
rs142594314
|
0.00128
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)
|
rs777064285
|
0.00012
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
0.00003
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_001384125.1(BLTP1):c.3323+1G>A
|
rs775292946
|
0.00001
|
NM_002653.5(PITX1):c.158C>T (p.Thr53Met)
|
rs777634577
|
0.00001
|
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)
|
rs778360818
|
0.00001
|
46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn
|
|
|
46;XY;t(2;10)(p25;q26)dn
|
|
|
NM_000093.5(COL5A1):c.2903del (p.Pro968fs)
|
rs1057518871
|
|
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)
|
rs772470710
|
|
NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)
|
rs370810713
|
|
NM_001366521.1(ATP2B1):c.3060+2T>G
|
rs2135942244
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)
|
rs730882245
|
|
NM_001384125.1(BLTP1):c.692del (p.Phe231fs)
|
rs1741122462
|
|
NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)
|
rs1555539904
|
|
NM_002653.5(PITX1):c.292del (p.Ser98fs)
|
|
|
NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)
|
rs121909109
|
|
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)
|
rs1752408604
|
|
NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)
|
|
|
NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)
|
rs1752403312
|
|
NM_002653.5(PITX1):c.765_799del (p.Ala256fs)
|
rs730882191
|
|
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser)
|
rs141612135
|
|
NM_002653.5(PITX1):c.87del (p.Ala30fs)
|
rs2149562896
|
|
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)
|
rs1554846212
|
|
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
|
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)
|
rs780770356
|
|