NM_000297.4(PKD2):c.595+207T>C
|
rs2725235
|
0.78129
|
NM_000297.4(PKD2):c.844-22G>A
|
rs2725221
|
0.66782
|
NM_000297.4(PKD2):c.1716+117A>G
|
rs2725210
|
0.33871
|
NM_000297.4(PKD2):c.1716+310T>C
|
rs2728103
|
0.32205
|
NM_000297.4(PKD2):c.2523-169T>C
|
rs2725203
|
0.31587
|
NM_000297.4(PKD2):c.2019+274C>A
|
rs2725207
|
0.30999
|
NM_000297.4(PKD2):c.*1237G>A
|
rs10965
|
0.25694
|
NM_000297.4(PKD2):c.2358+245A>T
|
rs11938025
|
0.25379
|
NM_000297.4(PKD2):c.1548+321A>G
|
rs10031265
|
0.21880
|
NM_000297.4(PKD2):c.*256C>T
|
rs2728121
|
0.13098
|
NM_000297.4(PKD2):c.1094+92A>G
|
rs17013735
|
0.10175
|
NM_000297.4(PKD2):c.1094+308T>C
|
rs2725219
|
0.08801
|
NM_000297.4(PKD2):c.1549-137T>C
|
rs2728104
|
0.08736
|
NM_000297.4(PKD2):c.*1030G>A
|
rs2725202
|
0.08186
|
NM_000297.4(PKD2):c.843+218C>A
|
rs2728109
|
0.07940
|
NM_000297.4(PKD2):c.1094+324T>A
|
rs7674673
|
0.05311
|
NM_000297.4(PKD2):c.596-87T>A
|
rs72873461
|
0.03287
|
NM_000297.4(PKD2):c.1549-47C>T
|
rs75331451
|
0.01955
|
NM_000297.4(PKD2):c.596-16C>T
|
rs62310565
|
0.01932
|
NM_000297.4(PKD2):c.710-29G>A
|
rs72873478
|
0.01046
|
NM_000297.4(PKD2):c.2358+23G>A
|
rs10516804
|
0.01042
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000297.4(PKD2):c.*1120C>T
|
rs116540621
|
0.00805
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000297.4(PKD2):c.2119-35T>C
|
rs78885971
|
0.00524
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_000297.4(PKD2):c.*1113G>A
|
rs541524392
|
0.00232
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000297.4(PKD2):c.*552G>A
|
rs139787413
|
0.00123
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)
|
rs1801612
|
0.00065
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_000297.4(PKD2):c.2829C>T (p.Ser943=)
|
rs138495345
|
0.00036
|
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)
|
rs143581690
|
0.00028
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)
|
rs555242193
|
0.00017
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_000297.4(PKD2):c.2814A>G (p.Gln938=)
|
rs573469832
|
0.00008
|
NM_000297.4(PKD2):c.1548+9G>C
|
rs376901684
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2295T>C (p.Asp765=)
|
rs138982773
|
0.00001
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1
|
|
|
NM_000297.4(PKD2):c.1094+269G>C
|
rs2725220
|
|
NM_000297.4(PKD2):c.1094+315G>C
|
rs2725218
|
|
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
|
|
|
NM_000297.4(PKD2):c.1548+314dup
|
rs35144940
|
|
NM_000297.4(PKD2):c.1587A>T (p.Thr529=)
|
rs375543446
|
|
NM_000297.4(PKD2):c.1716+137del
|
rs70957296
|
|
NM_000297.4(PKD2):c.1716+17A>G
|
rs142580445
|
|
NM_000297.4(PKD2):c.2020-158del
|
rs60055635
|
|
NM_000297.4(PKD2):c.2118+10del
|
|
|
NM_000297.4(PKD2):c.2118+10dup
|
rs756472871
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2240+113del
|
rs111465406
|
|
NM_000297.4(PKD2):c.2240+113dup
|
rs111465406
|
|
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
|
|
|
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
|
|
|
NM_000297.4(PKD2):c.2671-3dup
|
|
|
NM_000297.4(PKD2):c.596-116del
|
rs200521275
|
|
NM_000297.4(PKD2):c.699C>T (p.Val233=)
|
|
|
NM_000297.4(PKD2):c.710-4539T>C
|
|
|
NM_000297.4(PKD2):c.843+57T>C
|
rs17786456
|
|