NM_001001344.3(ATP2B3):c.790+17G>C
|
rs2980013
|
0.99748
|
NM_001001344.3(ATP2B3):c.2839+33A>G
|
rs2980018
|
0.99672
|
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=)
|
rs3020949
|
0.99114
|
NM_001001344.3(ATP2B3):c.2326+11C>T
|
rs3020957
|
0.95109
|
NM_001001344.3(ATP2B3):c.2839+14G>T
|
rs3020959
|
0.88308
|
NM_001001344.3(ATP2B3):c.664+41G>A
|
rs762733
|
0.76378
|
NM_001001344.3(ATP2B3):c.1824-58G>A
|
rs2239682
|
0.43153
|
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=)
|
rs2269415
|
0.41962
|
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707
|
0.10515
|
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)
|
rs1340989
|
0.08733
|
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281
|
0.02758
|
NM_001001344.3(ATP2B3):c.407-6G>A
|
rs139607201
|
0.01600
|
NM_001271696.3(ABCB7):c.945-7C>T
|
rs5937938
|
0.00961
|
NM_002024.6(FMR1):c.18G>T (p.Val6=)
|
rs111485627
|
0.00830
|
NM_001001344.3(ATP2B3):c.3052-5C>T
|
rs189012896
|
0.00714
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)
|
rs140031135
|
0.00412
|
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val)
|
rs149428057
|
0.00320
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)
|
rs151288786
|
0.00187
|
NM_001271696.3(ABCB7):c.1032+12A>G
|
rs148980611
|
0.00087
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)
|
rs201842753
|
0.00004
|
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys)
|
rs782683285
|
0.00003
|
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His)
|
rs782587313
|
0.00003
|
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln)
|
rs201426629
|
0.00003
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His)
|
rs1557010446
|
0.00001
|
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln)
|
rs782067205
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile)
|
rs768257406
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
0.00001
|
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu)
|
rs2090483867
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
NM_001001344.3(ATP2B3):c.2541C>G (p.Asp847Glu)
|
|
|
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)
|
rs2124491843
|
|
NM_001001344.3(ATP2B3):c.3160-57A>G
|
rs4243536
|
|
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile)
|
rs1569535623
|
|
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp)
|
rs1227019809
|
|
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)
|
rs397514619
|
|
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)
|
rs782596945
|
|
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
|
|
|
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
|
|
|
NM_001001344.3(ATP2B3):c.665-116A>G
|
rs2980012
|
|
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
|
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)
|
rs1057518042
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_001271696.3(ABCB7):c.168+69C>G
|
rs1039123
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
NM_002024.6(FMR1):c.-128GGC[55_200]
|
|
|
NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)
|
|
|
NM_002024.6:c.-128GGM[55_?]
|
|
|