|
NM_005202.4(COL8A2):c.193+34C>T
|
rs274754
|
0.62904
|
|
NM_001083962.2(TCF4):c.789+23C>T
|
rs1788027
|
0.53241
|
|
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)
|
rs8766
|
0.37317
|
|
NM_001083962.2(TCF4):c.305-165C>T
|
rs17522826
|
0.15868
|
|
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
|
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
|
rs118020901
|
0.00680
|
|
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)
|
rs185919705
|
0.00200
|
|
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)
|
rs181958589
|
0.00124
|
|
NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)
|
rs1577181
|
0.00096
|
|
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=)
|
rs149166539
|
0.00082
|
|
NM_001083962.2(TCF4):c.*5-10C>T
|
rs552239655
|
0.00052
|
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
|
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)
|
rs143965185
|
0.00029
|
|
NM_001083962.2(TCF4):c.923-17G>T
|
rs550597992
|
0.00010
|
|
NM_001174089.2(SLC4A11):c.2192+1G>A
|
rs759540763
|
0.00005
|
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
|
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)
|
rs751797233
|
0.00003
|
|
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
|
rs267607066
|
0.00003
|
|
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)
|
rs745458688
|
0.00002
|
|
NM_001083962.2(TCF4):c.550-22780G>A
|
rs962581774
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
|
NG_011716.2:g.54765TGC[51_?]
|
|
|
|
NM_001083962.2(TCF4):c.-21+2T>A
|
rs1568471128
|
|
|
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer)
|
rs1600404795
|
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
|
NM_001083962.2(TCF4):c.1417_1418delinsT (p.Pro473fs)
|
|
|
|
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
|
|
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
|
NM_001083962.2(TCF4):c.1739G>T (p.Arg580Leu)
|
|
|
|
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)
|
rs755332116
|
|
|
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
|
|
|
|
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)
|
rs878853149
|
|
|
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer)
|
rs1568622225
|
|
|
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
|
|
|
|
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
|
|
|
|
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)
|
rs1555796645
|
|
|
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)
|
rs267607065
|
|
|
NM_001174089.2(SLC4A11):c.1423GAG[1] (p.Glu476del)
|
|
|
|
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)
|
rs755379986
|
|
|
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu)
|
rs267607064
|
|
|
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)
|
rs2068078358
|
|
|
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)
|
rs772409032
|
|
|
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)
|
rs1600618680
|
|
|
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)
|
rs2122588507
|
|
|
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
|
|
|
|
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
|
|
|
|
NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)
|
rs1554797626
|
|
|
NM_001174096.2(ZEB1):c.504del (p.Gln169fs)
|
rs2069829602
|
|
|
NM_001174096.2(ZEB1):c.593A>C (p.Glu198Ala)
|
|
|
|
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
|
|
|
|
NM_001386094.1(AGBL1):c.1641G>T (p.Met547Ile)
|
|
|
|
NM_001386094.1(AGBL1):c.2423G>C (p.Ser808Thr)
|
|
|
|
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
|
|
|
|
NM_001386094.1(AGBL1):c.861C>T (p.Pro287=)
|
|
|
|
NM_005202.4(COL8A2):c.*12G>T
|
rs3738360
|
|
|
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)
|
rs80358192
|
|
|
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)
|
rs80358191
|
|
|
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)
|
rs727504229
|
|
|
NM_005202.4(COL8A2):c.1484G>T (p.Gly495Val)
|
|
|
|
NM_152336.4(AGBL1):c.3285A>C (p.Thr1095=)
|
|
|
|
NM_152336.4(AGBL1):c.3323+1G>A
|
rs79072327
|
|