NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter)
|
rs139027297
|
0.00003
|
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter)
|
rs1282433030
|
0.00002
|
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter)
|
rs1478587308
|
0.00001
|
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp)
|
rs755071813
|
0.00001
|
NM_133497.4(KCNV2):c.866del (p.Ser289fs)
|
rs758877996
|
0.00001
|
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)
|
rs754275640
|
0.00001
|
NC_000009.11:g.(?_2717738)_(2719115_?)del
|
|
|
NC_000009.11:g.(?_2717755)_(2728666_?)del
|
|
|
NC_000009.11:g.(?_2717758)_(2728666_?)del
|
|
|
NC_000009.11:g.(?_2729426)_(2729727_?)del
|
|
|
NC_000009.12:g.(?_2717740)_(2729727_?)del
|
|
|
NG_012181.1:g.5233_16321delinsCATTTG
|
|
|
NM_133497.4(KCNV2):c.1007ACCTGGTGG[1] (p.Asp339_Val341del)
|
rs786205064
|
|
NM_133497.4(KCNV2):c.1057G>T (p.Glu353Ter)
|
|
|
NM_133497.4(KCNV2):c.1096del (p.Val366fs)
|
rs1486482604
|
|
NM_133497.4(KCNV2):c.1108_1195del (p.Gly370fs)
|
|
|
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)
|
rs138924201
|
|
NM_133497.4(KCNV2):c.1199del (p.Phe400fs)
|
rs768486552
|
|
NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro)
|
rs1819808781
|
|
NM_133497.4(KCNV2):c.1295_1296del (p.Val432fs)
|
rs1318199256
|
|
NM_133497.4(KCNV2):c.1336dup (p.His446fs)
|
|
|
NM_133497.4(KCNV2):c.1356+3_1356+6del
|
rs748084580
|
|
NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp)
|
rs104894115
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)
|
rs149648640
|
|
NM_133497.4(KCNV2):c.153T>A (p.Tyr51Ter)
|
|
|
NM_133497.4(KCNV2):c.196C>T (p.Gln66Ter)
|
|
|
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs)
|
rs1385132304
|
|
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter)
|
rs387907302
|
|
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)
|
rs202036979
|
|
NM_133497.4(KCNV2):c.361del (p.Thr121fs)
|
rs2130860471
|
|
NM_133497.4(KCNV2):c.39C>G (p.Tyr13Ter)
|
|
|
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs)
|
rs1586686845
|
|
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)
|
rs748280472
|
|
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)
|
rs104894113
|
|
NM_133497.4(KCNV2):c.430G>T (p.Glu144Ter)
|
rs777051584
|
|
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys)
|
rs140256288
|
|
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter)
|
rs140256288
|
|
NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser)
|
rs397514604
|
|
NM_133497.4(KCNV2):c.491del (p.Phe164fs)
|
rs2130860673
|
|
NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg)
|
rs751600925
|
|
NM_133497.4(KCNV2):c.547G>T (p.Glu183Ter)
|
rs1272477167
|
|
NM_133497.4(KCNV2):c.563G>A (p.Trp188Ter)
|
|
|
NM_133497.4(KCNV2):c.564G>C (p.Trp188Cys)
|
rs772921412
|
|
NM_133497.4(KCNV2):c.613G>T (p.Glu205Ter)
|
rs753157401
|
|
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)
|
|
|
NM_133497.4(KCNV2):c.649C>T (p.Gln217Ter)
|
rs2130860955
|
|
NM_133497.4(KCNV2):c.656_657del (p.Glu219fs)
|
rs2130860973
|
|
NM_133497.4(KCNV2):c.700dup (p.Arg234fs)
|
|
|
NM_133497.4(KCNV2):c.705_706dup (p.Met236fs)
|
|
|
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del)
|
rs1586687216
|
|
NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter)
|
rs2130861136
|
|
NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp)
|
rs104894116
|
|
NM_133497.4(KCNV2):c.774del (p.Ala259fs)
|
rs753147277
|
|
NM_133497.4(KCNV2):c.781del (p.Ala261fs)
|
rs2130861209
|
|
NM_133497.4(KCNV2):c.856C>T (p.Gln286Ter)
|
|
|
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter)
|
rs569992163
|
|
NM_133497.4(KCNV2):c.889_901del (p.Asp297fs)
|
rs1563795658
|
|
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)
|
rs786205121
|
|
NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter)
|
rs104894114
|
|
NM_133497.4(KCNV2):c.951C>G (p.Tyr317Ter)
|
rs1432037634
|
|
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)
|
rs1819797791
|
|
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)
|
rs986350598
|
|
NM_133497.4:c.1357_1638del
|
rs1820025037
|
|