NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_020435.4(GJC2):c.1123G>A (p.Val375Ile)
|
rs554468010
|
0.00050
|
NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser)
|
rs535282333
|
0.00020
|
NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn)
|
rs773338759
|
0.00018
|
NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly)
|
rs745978138
|
0.00018
|
NM_020435.4(GJC2):c.1137G>A (p.Ala379=)
|
rs770713772
|
0.00011
|
NM_020435.4(GJC2):c.1082G>T (p.Gly361Val)
|
rs1372028650
|
0.00010
|
NM_020435.4(GJC2):c.87G>A (p.Thr29=)
|
rs781315856
|
0.00010
|
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)
|
rs375288744
|
0.00006
|
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val)
|
rs752282539
|
0.00005
|
NM_020435.4(GJC2):c.418G>A (p.Asp140Asn)
|
rs563631405
|
0.00005
|
NM_020435.4(GJC2):c.1066C>A (p.Gln356Lys)
|
rs146841026
|
0.00004
|
NM_020435.4(GJC2):c.35T>C (p.Leu12Pro)
|
rs765598965
|
0.00004
|
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)
|
rs1330596542
|
0.00002
|
NM_020435.4(GJC2):c.295G>A (p.Val99Met)
|
rs754971409
|
0.00002
|
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr)
|
rs758277909
|
0.00002
|
NM_020435.4(GJC2):c.599G>A (p.Gly200Glu)
|
rs747380067
|
0.00002
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
NM_020435.4(GJC2):c.1028C>T (p.Ala343Val)
|
rs1157071248
|
0.00001
|
NM_020435.4(GJC2):c.102C>A (p.Phe34Leu)
|
rs1170317766
|
0.00001
|
NM_020435.4(GJC2):c.1038T>A (p.His346Gln)
|
rs559021726
|
0.00001
|
NM_020435.4(GJC2):c.1058T>C (p.Leu353Pro)
|
rs905863745
|
0.00001
|
NM_020435.4(GJC2):c.1102G>A (p.Asp368Asn)
|
rs779067650
|
0.00001
|
NM_020435.4(GJC2):c.1208T>C (p.Val403Ala)
|
rs1310388444
|
0.00001
|
NM_020435.4(GJC2):c.1219G>A (p.Gly407Ser)
|
rs758530794
|
0.00001
|
NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp)
|
rs918865729
|
0.00001
|
NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser)
|
rs780938071
|
0.00001
|
NM_020435.4(GJC2):c.1241G>T (p.Arg414Leu)
|
rs775352391
|
0.00001
|
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser)
|
rs761544365
|
0.00001
|
NM_020435.4(GJC2):c.1293G>C (p.Arg431Ser)
|
rs765571379
|
0.00001
|
NM_020435.4(GJC2):c.328C>G (p.Arg110Gly)
|
rs1203025597
|
0.00001
|
NM_020435.4(GJC2):c.331C>T (p.Arg111Cys)
|
rs914561394
|
0.00001
|
NM_020435.4(GJC2):c.434A>T (p.Glu145Val)
|
rs1250327843
|
0.00001
|
NM_020435.4(GJC2):c.448C>G (p.Leu150Val)
|
rs1558119730
|
0.00001
|
NM_020435.4(GJC2):c.546_566dup (p.Ala184_Gly190dup)
|
rs758571008
|
0.00001
|
NM_020435.4(GJC2):c.595G>A (p.Asp199Asn)
|
rs772486962
|
0.00001
|
NM_020435.4(GJC2):c.697C>G (p.Leu233Val)
|
rs1359291468
|
0.00001
|
NM_020435.4(GJC2):c.739C>T (p.Arg247Cys)
|
rs1057523987
|
0.00001
|
NC_000001.10:g.(?_228337558)_(228346779_?)dup
|
|
|
NM_020435.3(GJC2):c.-170A>G
|
rs587777496
|
|
NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln)
|
rs1011652150
|
|
NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu)
|
|
|
NM_020435.4(GJC2):c.1037A>T (p.His346Leu)
|
|
|
NM_020435.4(GJC2):c.1056C>G (p.Asn352Lys)
|
|
|
NM_020435.4(GJC2):c.1088C>A (p.Ala363Glu)
|
rs1469042630
|
|
NM_020435.4(GJC2):c.1093G>A (p.Gly365Arg)
|
rs1434548378
|
|
NM_020435.4(GJC2):c.109G>A (p.Val37Met)
|
rs886783252
|
|
NM_020435.4(GJC2):c.1105C>T (p.Arg369Trp)
|
|
|
NM_020435.4(GJC2):c.1133C>T (p.Pro378Leu)
|
|
|
NM_020435.4(GJC2):c.1145G>A (p.Arg382Gln)
|
rs2034731056
|
|
NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro)
|
|
|
NM_020435.4(GJC2):c.11T>G (p.Met4Arg)
|
rs2124965914
|
|
NM_020435.4(GJC2):c.1229G>A (p.Gly410Asp)
|
|
|
NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly)
|
rs769684659
|
|
NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro)
|
|
|
NM_020435.4(GJC2):c.1289G>A (p.Ser430Asn)
|
|
|
NM_020435.4(GJC2):c.133G>C (p.Ala45Pro)
|
|
|
NM_020435.4(GJC2):c.139T>C (p.Tyr47His)
|
|
|
NM_020435.4(GJC2):c.195C>A (p.Asn65Lys)
|
|
|
NM_020435.4(GJC2):c.226C>A (p.His76Asn)
|
|
|
NM_020435.4(GJC2):c.231_233del (p.Arg78del)
|
|
|
NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)
|
|
|
NM_020435.4(GJC2):c.292G>A (p.Ala98Thr)
|
|
|
NM_020435.4(GJC2):c.29C>T (p.Thr10Met)
|
|
|
NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)
|
|
|
NM_020435.4(GJC2):c.338C>T (p.Ala113Val)
|
|
|
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys)
|
rs2124966245
|
|
NM_020435.4(GJC2):c.364C>G (p.Arg122Gly)
|
rs1171061411
|
|
NM_020435.4(GJC2):c.368C>A (p.Ala123Glu)
|
|
|
NM_020435.4(GJC2):c.386C>G (p.Pro129Arg)
|
|
|
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
|
|
|
NM_020435.4(GJC2):c.407C>G (p.Pro136Arg)
|
|
|
NM_020435.4(GJC2):c.409G>C (p.Glu137Gln)
|
rs2124966310
|
|
NM_020435.4(GJC2):c.412C>A (p.Pro138Thr)
|
|
|
NM_020435.4(GJC2):c.426C>T (p.Gly142=)
|
rs2124966330
|
|
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)
|
rs779077705
|
|
NM_020435.4(GJC2):c.452G>T (p.Gly151Val)
|
|
|
NM_020435.4(GJC2):c.454GAG[5] (p.Glu157_Glu158del)
|
rs746050475
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup)
|
rs746050475
|
|
NM_020435.4(GJC2):c.466_467delinsAT (p.Glu156Met)
|
rs1571907790
|
|
NM_020435.4(GJC2):c.476C>T (p.Thr159Met)
|
rs756868228
|
|
NM_020435.4(GJC2):c.484G>A (p.Ala162Thr)
|
|
|
NM_020435.4(GJC2):c.496G>A (p.Gly166Ser)
|
|
|
NM_020435.4(GJC2):c.498C>T (p.Gly166=)
|
rs2124966406
|
|
NM_020435.4(GJC2):c.506C>T (p.Ala169Val)
|
|
|
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup)
|
rs1159773438
|
|
NM_020435.4(GJC2):c.530C>T (p.Ala177Val)
|
|
|
NM_020435.4(GJC2):c.539A>G (p.Lys180Arg)
|
rs2124966466
|
|
NM_020435.4(GJC2):c.545_565dup (p.Val182_Ala188dup)
|
rs1553262516
|
|
NM_020435.4(GJC2):c.556G>A (p.Gly186Ser)
|
|
|
NM_020435.4(GJC2):c.577G>T (p.Gly193Cys)
|
|
|
NM_020435.4(GJC2):c.584C>T (p.Thr195Ile)
|
|
|
NM_020435.4(GJC2):c.601C>T (p.Arg201Trp)
|
|
|
NM_020435.4(GJC2):c.608G>A (p.Arg203His)
|
|
|
NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn)
|
|
|
NM_020435.4(GJC2):c.641T>C (p.Val214Ala)
|
|
|
NM_020435.4(GJC2):c.644C>T (p.Ala215Val)
|
|
|
NM_020435.4(GJC2):c.649_651del (p.Leu217del)
|
|
|
NM_020435.4(GJC2):c.653T>C (p.Val218Ala)
|
rs1571908001
|
|
NM_020435.4(GJC2):c.658A>G (p.Arg220Gly)
|
rs2124966578
|
|
NM_020435.4(GJC2):c.661G>C (p.Ala221Pro)
|
rs767296387
|
|
NM_020435.4(GJC2):c.661G>T (p.Ala221Ser)
|
rs767296387
|
|
NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys)
|
|
|
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
|
|
|
NM_020435.4(GJC2):c.721C>T (p.Pro241Ser)
|
|
|
NM_020435.4(GJC2):c.740G>A (p.Arg247His)
|
rs1057523988
|
|
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro)
|
rs1057523988
|
|
NM_020435.4(GJC2):c.751C>G (p.Pro251Ala)
|
|
|
NM_020435.4(GJC2):c.752C>T (p.Pro251Leu)
|
rs2034720620
|
|
NM_020435.4(GJC2):c.765C>G (p.Asp255Glu)
|
|
|
NM_020435.4(GJC2):c.766T>C (p.Cys256Arg)
|
|
|
NM_020435.4(GJC2):c.782C>G (p.Pro261Arg)
|
|
|
NM_020435.4(GJC2):c.784A>C (p.Thr262Pro)
|
|
|
NM_020435.4(GJC2):c.817G>C (p.Val273Leu)
|
rs374172867
|
|
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)
|
|
|
NM_020435.4(GJC2):c.845A>G (p.Asn282Ser)
|
rs1553262560
|
|
NM_020435.4(GJC2):c.898G>A (p.Gly300Ser)
|
|
|
NM_020435.4(GJC2):c.902G>C (p.Arg301Pro)
|
|
|
NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly)
|
|
|
NM_020435.4(GJC2):c.914dup (p.Ala306fs)
|
|
|
NM_020435.4(GJC2):c.915G>A (p.Pro305=)
|
rs2034723914
|
|
NM_020435.4(GJC2):c.923C>T (p.Ala308Val)
|
|
|
NM_020435.4(GJC2):c.924CCCCGC[3] (p.Pro313_Arg314insAlaPro)
|
|
|
NM_020435.4(GJC2):c.947C>A (p.Pro316Gln)
|
|
|
NM_020435.4(GJC2):c.968C>T (p.Ala323Val)
|
|
|
NM_020435.4(GJC2):c.997T>G (p.Tyr333Asp)
|
rs2124966916
|
|