NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_001161352.2(KCNMA1):c.2710-8T>C
|
rs78672251
|
0.03213
|
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)
|
rs74140280
|
0.01852
|
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)
|
rs77280228
|
0.01731
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)
|
rs2229009
|
0.00285
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001161352.2(KCNMA1):c.2484+7G>A
|
rs13377017
|
0.00176
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_001161352.2(KCNMA1):c.2267-4486C>T
|
rs188354139
|
0.00032
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)
|
rs142770262
|
0.00017
|
NM_001161352.2(KCNMA1):c.2544C>T (p.Gly848=)
|
rs139475681
|
0.00004
|
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=)
|
rs776877666
|
0.00004
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001161352.2(KCNMA1):c.378+868G>A
|
rs879255370
|
0.00003
|
NM_001161352.2(KCNMA1):c.1224-4T>A
|
rs200167721
|
0.00002
|
NM_001161352.2(KCNMA1):c.3147+10C>T
|
rs777007748
|
0.00001
|
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln)
|
rs200723995
|
0.00001
|
GRCh37/hg19 10q22.3(chr10:78569588-78649411)x3
|
|
|
GRCh37/hg19 10q22.3(chr10:78583466-78651927)x3
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.1224-14C>T
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu)
|
rs768769748
|
|
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2363_2369del (p.His788fs)
|
rs2152988950
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|