NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His)
|
rs1203495492
|
0.00002
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
|
|
|
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
|
|
|
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
|
|
|
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
|
|
|
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
|
|
|
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
|
|
|
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
|
|
|
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
|
|
|
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
|
|
|
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
|
|
|
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro)
|
rs2145680256
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val)
|
rs2080905274
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys)
|
rs1600732174
|
|
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter)
|
rs756360226
|
|
NM_172107.4(KCNQ2):c.1148+2T>A
|
|
|
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs)
|
rs2145637592
|
|
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)
|
rs2145637412
|
|
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
|
|
|
NM_172107.4(KCNQ2):c.1623_1631+5del
|
rs2145547209
|
|
NM_172107.4(KCNQ2):c.1632-6C>A
|
|
|
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
|
|
|
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile)
|
rs2145542277
|
|
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
|
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
|
|
|
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)
|
rs2080187424
|
|
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)
|
rs796052654
|
|
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
|
rs2145541173
|
|
NM_172107.4(KCNQ2):c.1763+4A>G
|
rs2145541064
|
|
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
|
|
|
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
|
|
|
NM_172107.4(KCNQ2):c.297-1G>C
|
rs2081442293
|
|
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly)
|
rs2145789722
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.367del (p.Glu123fs)
|
rs2145789218
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)
|
rs1381622639
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn)
|
rs2145779680
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)
|
rs1057516081
|
|
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)
|
rs2145922320
|
|
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
|
|
|
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val)
|
rs2145776110
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys)
|
rs2081363302
|
|
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
|
|
|
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)
|
rs796052619
|
|
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)
|
rs2081362775
|
|
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
|
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
|
|
|
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)
|
rs2145774638
|
|
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)
|
rs2145774625
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg)
|
rs942541730
|
|
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
|
|
|
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr)
|
rs2081191454
|
|
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
|
|
|
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)
|
rs2081189736
|
|
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
|
|
|
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)
|
rs1057518500
|
|
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)
|
rs1555871832
|
|
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
|
|
|
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)
|
rs2145735332
|
|
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser)
|
rs796052633
|
|
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.816+2T>A
|
rs2081186625
|
|
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)
|
rs2145719551
|
|
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
|
|
|
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)
|
rs2081101244
|
|
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
|
|
|
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser)
|
rs1057519535
|
|
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)
|
rs1060500602
|
|
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
|
|
|
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
|
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|