NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)
|
rs204718
|
0.99996
|
NM_015330.6(SPECC1L):c.2560+46C>T
|
rs5760351
|
0.55421
|
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)
|
rs3747113
|
0.22461
|
NM_000381.4(MID1):c.498G>A (p.Pro166=)
|
rs7391874
|
0.00376
|
NM_000381.4(MID1):c.1242C>T (p.Tyr414=)
|
rs142718564
|
0.00269
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu)
|
rs780880323
|
0.00002
|
NM_000381.4(MID1):c.107G>A (p.Arg36His)
|
rs1270080835
|
0.00001
|
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)
|
rs745554420
|
0.00001
|
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys)
|
rs2041009697
|
0.00001
|
NG_008197.2:g.(218402_271087)_(271804_315503)dup
|
|
|
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)
|
rs2147287460
|
|
NM_000381.4(MID1):c.1142-1G>T
|
rs1929600096
|
|
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter)
|
rs2147266860
|
|
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del)
|
rs1569270035
|
|
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)
|
rs1556004400
|
|
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)
|
rs1556004366
|
|
NM_000381.4(MID1):c.1415G>A (p.Arg472His)
|
|
|
NM_000381.4(MID1):c.1454del (p.Pro485fs)
|
rs1556003200
|
|
NM_000381.4(MID1):c.1495G>A (p.Val499Met)
|
rs868016081
|
|
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)
|
rs1569268029
|
|
NM_000381.4(MID1):c.1558dup (p.Glu520fs)
|
rs1569268013
|
|
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
|
|
|
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter)
|
rs1556003095
|
|
NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp)
|
|
|
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
|
|
|
NM_000381.4(MID1):c.1655+1G>A
|
rs1928556991
|
|
NM_000381.4(MID1):c.1663A>G (p.Ile555Val)
|
rs398123341
|
|
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)
|
rs1057520313
|
|
NM_000381.4(MID1):c.1688dup (p.Lys564fs)
|
|
|
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter)
|
rs1556001968
|
|
NM_000381.4(MID1):c.1798del (p.His600fs)
|
|
|
NM_000381.4(MID1):c.1798dup (p.His600fs)
|
rs398123342
|
|
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter)
|
rs2147252384
|
|
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro)
|
rs28934611
|
|
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)
|
rs1556001856
|
|
NM_000381.4(MID1):c.1917del (p.Thr640fs)
|
rs1569265497
|
|
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro)
|
rs2147252300
|
|
NM_000381.4(MID1):c.343G>T (p.Glu115Ter)
|
rs104894865
|
|
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)
|
rs1934582371
|
|
NM_000381.4(MID1):c.476A>G (p.His159Arg)
|
rs1934579726
|
|
NM_000381.4(MID1):c.535G>A (p.Glu179Lys)
|
rs2147468779
|
|
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer)
|
rs2147369813
|
|
NM_000381.4(MID1):c.693T>G (p.Ile231Met)
|
|
|
NM_000381.4(MID1):c.712G>T (p.Glu238Ter)
|
rs387906719
|
|
NM_000381.4(MID1):c.757-1G>A
|
rs1555895725
|
|
NM_000381.4(MID1):c.757-1G>C
|
rs1555895725
|
|
NM_000381.4(MID1):c.757-5831A>G
|
rs1555896387
|
|
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)
|
rs1555895704
|
|
NM_000381.4(MID1):c.849G>C (p.Lys283Asn)
|
|
|
NM_000381.4(MID1):c.884T>C (p.Leu295Pro)
|
rs104894866
|
|
NM_000381.4(MID1):c.889C>T (p.Gln297Ter)
|
rs2147299486
|
|
NM_000381.4(MID1):c.922del (p.Arg308fs)
|
rs1555894390
|
|
NM_015330.6(SPECC1L):c.1292T>C (p.Leu431Pro)
|
rs1556226291
|
|
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala)
|
rs139099983
|
|
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer)
|
rs2040777042
|
|
NM_015330.6(SPECC1L):c.2473del (p.Met825fs)
|
rs2146521275
|
|
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val)
|
rs1601294872
|
|