|
NM_006517.5(SLC16A2):c.1399+43T>G
|
rs5937843
|
0.57946
|
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
|
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)
|
rs373279555
|
0.00001
|
|
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
|
|
|
|
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
|
|
|
|
NG_011641.2:g.(108110_108560)_(109645_112963)del
|
|
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[4]
|
rs760787234
|
|
|
NM_006517.5(SLC16A2):c.-53A>C
|
rs587784385
|
|
|
NM_006517.5(SLC16A2):c.-6_430+5del
|
rs2147833779
|
|
|
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
|
|
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
|
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
|
rs1380635081
|
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
|
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)
|
rs104894940
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
|
NM_006517.5(SLC16A2):c.1170+4_1170+7del
|
rs1555989846
|
|
|
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
|
rs122455132
|
|
|
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)
|
rs2147871837
|
|
|
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)
|
rs367543059
|
|
|
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
|
rs1602143383
|
|
|
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)
|
rs2147871878
|
|
|
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)
|
rs113994164
|
|
|
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)
|
rs104894931
|
|
|
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
|
rs1602143432
|
|
|
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)
|
rs2147871919
|
|
|
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
|
|
|
|
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)
|
rs1363308293
|
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
|
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)
|
rs2147350836
|
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
|
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)
|
rs1569281085
|
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
|
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
|
|
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
|
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
|
rs933036653
|
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
|
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
|
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)
|
rs113994162
|
|
|
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
|
|
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
|
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)
|
rs1602099961
|
|
|
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)
|
rs1602099961
|
|
|
NM_006517.5(SLC16A2):c.431-2A>G
|
rs2147869490
|
|
|
NM_006517.5(SLC16A2):c.431-44029A>C
|
rs1303981973
|
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
|
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)
|
rs1930396705
|
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
|
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)
|
rs104894936
|
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
|
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
|
|
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
|
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)
|
rs2147870528
|
|
|
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
|
|
|
|
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
|
|
|
|
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)
|
rs1930457917
|
|
|
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
|
|
|
|
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
|
|
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
|
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)
|
rs2147870614
|
|
|
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
|
|
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
|
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
|
rs1930463806
|
|
|
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)
|
|
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
|
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)
|
rs2147833877
|
|
|
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
|
|
|
|
Single allele
|
|
|