Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154584810A>C | CA342634412 | ADAR | c.3571T>G (n.3571T>G) c.3707T>G (p.Val1236Gly) c.3560T>G (p.Val1187Gly) c.3329T>G (p.Val1110Gly) c.2792T>G (p.Val931Gly) c.3677T>G (p.Val1226Gly) n.2470T>G c.3599T>G (p.Val1200Gly) n.3662T>G c.*1152T>G (n.*1152T>G) n.4413T>G c.*843T>G (n.*843T>G) c.*1909T>G (n.*1909T>G) n.4538T>G c.2735T>G (p.Val912Gly) c.3494T>G (p.Val1165Gly) c.*3199T>G (n.*3199T>G) n.3345T>G c.*3277T>G (n.*3277T>G) n.436T>G c.3584T>G (p.Val1195Gly) c.3542T>G (p.Val1181Gly) c.3806T>G (p.Val1269Gly) c.3728T>G (p.Val1243Gly) c.3695T>G (p.Val1232Gly) c.3704T>G (p.Val1235Gly) c.2714T>G (p.Val905Gly) | |
1 | g.154584810A>G | CA342634413 | ADAR | c.3571T>C (n.3571T>C) c.3707T>C (p.Val1236Ala) c.3560T>C (p.Val1187Ala) c.3329T>C (p.Val1110Ala) c.2792T>C (p.Val931Ala) c.3677T>C (p.Val1226Ala) n.2470T>C c.3599T>C (p.Val1200Ala) n.3662T>C c.*1152T>C (n.*1152T>C) n.4413T>C c.*843T>C (n.*843T>C) c.*1909T>C (n.*1909T>C) n.4538T>C c.2735T>C (p.Val912Ala) c.3494T>C (p.Val1165Ala) c.*3199T>C (n.*3199T>C) n.3345T>C c.*3277T>C (n.*3277T>C) n.436T>C c.3584T>C (p.Val1195Ala) c.3542T>C (p.Val1181Ala) c.3806T>C (p.Val1269Ala) c.3728T>C (p.Val1243Ala) c.3695T>C (p.Val1232Ala) c.3704T>C (p.Val1235Ala) c.2714T>C (p.Val905Ala) | gnomAD v4 |
1 | g.154584810A>T | CA342634414 | ADAR | c.3571T>A (n.3571T>A) c.3707T>A (p.Val1236Glu) c.3560T>A (p.Val1187Glu) c.3329T>A (p.Val1110Glu) c.2792T>A (p.Val931Glu) c.3677T>A (p.Val1226Glu) n.2470T>A c.3599T>A (p.Val1200Glu) n.3662T>A c.*1152T>A (n.*1152T>A) n.4413T>A c.*843T>A (n.*843T>A) c.*1909T>A (n.*1909T>A) n.4538T>A c.2735T>A (p.Val912Glu) c.3494T>A (p.Val1165Glu) c.*3199T>A (n.*3199T>A) n.3345T>A c.*3277T>A (n.*3277T>A) n.436T>A c.3584T>A (p.Val1195Glu) c.3542T>A (p.Val1181Glu) c.3806T>A (p.Val1269Glu) c.3728T>A (p.Val1243Glu) c.3695T>A (p.Val1232Glu) c.3704T>A (p.Val1235Glu) c.2714T>A (p.Val905Glu) | |
1 | g.154584811C>A | CA342634415 | ADAR | c.3570G>T (n.3570G>T) c.3706G>T (p.Val1236Leu) c.3559G>T (p.Val1187Leu) c.3328G>T (p.Val1110Leu) c.2791G>T (p.Val931Leu) c.3676G>T (p.Val1226Leu) n.2469G>T c.3598G>T (p.Val1200Leu) n.3661G>T c.*1151G>T (n.*1151G>T) n.4412G>T c.*842G>T (n.*842G>T) c.*1908G>T (n.*1908G>T) n.4537G>T c.2734G>T (p.Val912Leu) c.3493G>T (p.Val1165Leu) c.*3198G>T (n.*3198G>T) n.3344G>T c.*3276G>T (n.*3276G>T) n.435G>T c.3583G>T (p.Val1195Leu) c.3541G>T (p.Val1181Leu) c.3805G>T (p.Val1269Leu) c.3727G>T (p.Val1243Leu) c.3694G>T (p.Val1232Leu) c.3703G>T (p.Val1235Leu) c.2713G>T (p.Val905Leu) | |
1 | g.154584811C>G | CA342634416 | ADAR | c.3570G>C (n.3570G>C) c.3706G>C (p.Val1236Leu) c.3559G>C (p.Val1187Leu) c.3328G>C (p.Val1110Leu) c.2791G>C (p.Val931Leu) c.3676G>C (p.Val1226Leu) n.2469G>C c.3598G>C (p.Val1200Leu) n.3661G>C c.*1151G>C (n.*1151G>C) n.4412G>C c.*842G>C (n.*842G>C) c.*1908G>C (n.*1908G>C) n.4537G>C c.2734G>C (p.Val912Leu) c.3493G>C (p.Val1165Leu) c.*3198G>C (n.*3198G>C) n.3344G>C c.*3276G>C (n.*3276G>C) n.435G>C c.3583G>C (p.Val1195Leu) c.3541G>C (p.Val1181Leu) c.3805G>C (p.Val1269Leu) c.3727G>C (p.Val1243Leu) c.3694G>C (p.Val1232Leu) c.3703G>C (p.Val1235Leu) c.2713G>C (p.Val905Leu) | |
1 | g.154584811C>T | CA342634417 | ADAR | c.3570G>A (n.3570G>A) c.3706G>A (p.Val1236Ile) c.3559G>A (p.Val1187Ile) c.3328G>A (p.Val1110Ile) c.2791G>A (p.Val931Ile) c.3676G>A (p.Val1226Ile) n.2469G>A c.3598G>A (p.Val1200Ile) n.3661G>A c.*1151G>A (n.*1151G>A) n.4412G>A c.*842G>A (n.*842G>A) c.*1908G>A (n.*1908G>A) n.4537G>A c.2734G>A (p.Val912Ile) c.3493G>A (p.Val1165Ile) c.*3198G>A (n.*3198G>A) n.3344G>A c.*3276G>A (n.*3276G>A) n.435G>A c.3583G>A (p.Val1195Ile) c.3541G>A (p.Val1181Ile) c.3805G>A (p.Val1269Ile) c.3727G>A (p.Val1243Ile) c.3694G>A (p.Val1232Ile) c.3703G>A (p.Val1235Ile) c.2713G>A (p.Val905Ile) | gnomAD v4 |
1 | g.154584812del | CA2648175369 | ADAR | c.3569del (n.3569del) c.3705del (p.Val1236TyrfsTer6) c.3558del (p.Val1187TyrfsTer6) c.3327del (p.Val1110TyrfsTer6) c.2790del (p.Val931TyrfsTer6) c.3675del (p.Val1226TyrfsTer6) n.2468del c.3597del (p.Val1200TyrfsTer6) n.3660del c.*1150del (n.*1150del) n.4411del c.*841del (n.*841del) c.*1907del (n.*1907del) n.4536del c.2733del (p.Val912TyrfsTer6) c.3492del (p.Val1165TyrfsTer6) c.*3197del (n.*3197del) n.3343del c.*3275del (n.*3275del) n.434del c.3582del (p.Pro1194=) c.3540del (p.Val1181TyrfsTer6) c.3804del (p.Val1269TyrfsTer6) c.3726del (p.Val1243TyrfsTer6) c.3693del (p.Val1232TyrfsTer6) c.3702del (p.Val1235TyrfsTer6) c.2712del (p.Val905TyrfsTer6) | gnomAD v4 |
1 | g.154584812T>A | CA421231109 | ADAR | c.3569A>T (n.3569A>T) c.3705A>T (p.Pro1235=) c.3558A>T (p.Pro1186=) c.3327A>T (p.Pro1109=) c.2790A>T (p.Pro930=) c.3675A>T (p.Pro1225=) n.2468A>T c.3597A>T (p.Pro1199=) n.3660A>T c.*1150A>T (n.*1150A>T) n.4411A>T c.*841A>T (n.*841A>T) c.*1907A>T (n.*1907A>T) n.4536A>T c.2733A>T (p.Pro911=) c.3492A>T (p.Pro1164=) c.*3197A>T (n.*3197A>T) n.3343A>T c.*3275A>T (n.*3275A>T) n.434A>T c.3582A>T (p.Pro1194=) c.3540A>T (p.Pro1180=) c.3804A>T (p.Pro1268=) c.3726A>T (p.Pro1242=) c.3693A>T (p.Pro1231=) c.3702A>T (p.Pro1234=) c.2712A>T (p.Pro904=) | |
1 | g.154584812T>C | CA30848527 | ADAR | c.3569A>G (n.3569A>G) c.3705A>G (p.Pro1235=) c.3558A>G (p.Pro1186=) c.3327A>G (p.Pro1109=) c.2790A>G (p.Pro930=) c.3675A>G (p.Pro1225=) n.2468A>G c.3597A>G (p.Pro1199=) n.3660A>G c.*1150A>G (n.*1150A>G) n.4411A>G c.*841A>G (n.*841A>G) c.*1907A>G (n.*1907A>G) n.4536A>G c.2733A>G (p.Pro911=) c.3492A>G (p.Pro1164=) c.*3197A>G (n.*3197A>G) n.3343A>G c.*3275A>G (n.*3275A>G) n.434A>G c.3582A>G (p.Pro1194=) c.3540A>G (p.Pro1180=) c.3804A>G (p.Pro1268=) c.3726A>G (p.Pro1242=) c.3693A>G (p.Pro1231=) c.3702A>G (p.Pro1234=) c.2712A>G (p.Pro904=) | dbSNP gnomAD v4 |
1 | g.154584812T>G | CA421231111 | ADAR | c.3569A>C (n.3569A>C) c.3705A>C (p.Pro1235=) c.3558A>C (p.Pro1186=) c.3327A>C (p.Pro1109=) c.2790A>C (p.Pro930=) c.3675A>C (p.Pro1225=) n.2468A>C c.3597A>C (p.Pro1199=) n.3660A>C c.*1150A>C (n.*1150A>C) n.4411A>C c.*841A>C (n.*841A>C) c.*1907A>C (n.*1907A>C) n.4536A>C c.2733A>C (p.Pro911=) c.3492A>C (p.Pro1164=) c.*3197A>C (n.*3197A>C) n.3343A>C c.*3275A>C (n.*3275A>C) n.434A>C c.3582A>C (p.Pro1194=) c.3540A>C (p.Pro1180=) c.3804A>C (p.Pro1268=) c.3726A>C (p.Pro1242=) c.3693A>C (p.Pro1231=) c.3702A>C (p.Pro1234=) c.2712A>C (p.Pro904=) | |
1 | g.154584812T= | CA2480931176 | ADAR | c.3569A= (n.3569A=) c.3705A= (p.Pro1235=) c.3558A= (p.Pro1186=) c.3327A= (p.Pro1109=) c.2790A= (p.Pro930=) c.3675A= (p.Pro1225=) n.2468A= c.3597A= (p.Pro1199=) n.3660A= c.*1150A= (n.*1150A=) n.4411A= c.*841A= (n.*841A=) c.*1907A= (n.*1907A=) n.4536A= c.2733A= (p.Pro911=) c.3492A= (p.Pro1164=) c.*3197A= (n.*3197A=) n.3343A= c.*3275A= (n.*3275A=) n.434A= c.3582A= (p.Pro1194=) c.3540A= (p.Pro1180=) c.3804A= (p.Pro1268=) c.3726A= (p.Pro1242=) c.3693A= (p.Pro1231=) c.3702A= (p.Pro1234=) c.2712A= (p.Pro904=) | |
1 | g.154584813G>A | CA1130915 | ADAR | c.3568C>T (n.3568C>T) c.3704C>T (p.Pro1235Leu) c.3557C>T (p.Pro1186Leu) c.3326C>T (p.Pro1109Leu) c.2789C>T (p.Pro930Leu) c.3674C>T (p.Pro1225Leu) n.2467C>T c.3596C>T (p.Pro1199Leu) n.3659C>T c.*1149C>T (n.*1149C>T) n.4410C>T c.*840C>T (n.*840C>T) c.*1906C>T (n.*1906C>T) n.4535C>T c.2732C>T (p.Pro911Leu) c.3491C>T (p.Pro1164Leu) c.*3196C>T (n.*3196C>T) n.3342C>T c.*3274C>T (n.*3274C>T) n.433C>T c.3581C>T (p.Pro1194Leu) c.3539C>T (p.Pro1180Leu) c.3803C>T (p.Pro1268Leu) c.3725C>T (p.Pro1242Leu) c.3692C>T (p.Pro1231Leu) c.3701C>T (p.Pro1234Leu) c.2711C>T (p.Pro904Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154584813G>C | CA342634418 | ADAR | c.3568C>G (n.3568C>G) c.3704C>G (p.Pro1235Arg) c.3557C>G (p.Pro1186Arg) c.3326C>G (p.Pro1109Arg) c.2789C>G (p.Pro930Arg) c.3674C>G (p.Pro1225Arg) n.2467C>G c.3596C>G (p.Pro1199Arg) n.3659C>G c.*1149C>G (n.*1149C>G) n.4410C>G c.*840C>G (n.*840C>G) c.*1906C>G (n.*1906C>G) n.4535C>G c.2732C>G (p.Pro911Arg) c.3491C>G (p.Pro1164Arg) c.*3196C>G (n.*3196C>G) n.3342C>G c.*3274C>G (n.*3274C>G) n.433C>G c.3581C>G (p.Pro1194Arg) c.3539C>G (p.Pro1180Arg) c.3803C>G (p.Pro1268Arg) c.3725C>G (p.Pro1242Arg) c.3692C>G (p.Pro1231Arg) c.3701C>G (p.Pro1234Arg) c.2711C>G (p.Pro904Arg) | |
1 | g.154584813G= | CA1148258718 | ADAR | c.3568C= (n.3568C=) c.3704C= (p.Pro1235=) c.3557C= (p.Pro1186=) c.3326C= (p.Pro1109=) c.2789C= (p.Pro930=) c.3674C= (p.Pro1225=) n.2467C= c.3596C= (p.Pro1199=) n.3659C= c.*1149C= (n.*1149C=) n.4410C= c.*840C= (n.*840C=) c.*1906C= (n.*1906C=) n.4535C= c.2732C= (p.Pro911=) c.3491C= (p.Pro1164=) c.*3196C= (n.*3196C=) n.3342C= c.*3274C= (n.*3274C=) n.433C= c.3581C= (p.Pro1194=) c.3539C= (p.Pro1180=) c.3803C= (p.Pro1268=) c.3725C= (p.Pro1242=) c.3692C= (p.Pro1231=) c.3701C= (p.Pro1234=) c.2711C= (p.Pro904=) | |
1 | g.154584813G>T | CA342634419 | ADAR | c.3568C>A (n.3568C>A) c.3704C>A (p.Pro1235Gln) c.3557C>A (p.Pro1186Gln) c.3326C>A (p.Pro1109Gln) c.2789C>A (p.Pro930Gln) c.3674C>A (p.Pro1225Gln) n.2467C>A c.3596C>A (p.Pro1199Gln) n.3659C>A c.*1149C>A (n.*1149C>A) n.4410C>A c.*840C>A (n.*840C>A) c.*1906C>A (n.*1906C>A) n.4535C>A c.2732C>A (p.Pro911Gln) c.3491C>A (p.Pro1164Gln) c.*3196C>A (n.*3196C>A) n.3342C>A c.*3274C>A (n.*3274C>A) n.433C>A c.3581C>A (p.Pro1194Gln) c.3539C>A (p.Pro1180Gln) c.3803C>A (p.Pro1268Gln) c.3725C>A (p.Pro1242Gln) c.3692C>A (p.Pro1231Gln) c.3701C>A (p.Pro1234Gln) c.2711C>A (p.Pro904Gln) | |
1 | g.154584814G>A | CA30848537 | ADAR | c.3567C>T (n.3567C>T) c.3703C>T (p.Pro1235Ser) c.3556C>T (p.Pro1186Ser) c.3325C>T (p.Pro1109Ser) c.2788C>T (p.Pro930Ser) c.3673C>T (p.Pro1225Ser) n.2466C>T c.3595C>T (p.Pro1199Ser) n.3658C>T c.*1148C>T (n.*1148C>T) n.4409C>T c.*839C>T (n.*839C>T) c.*1905C>T (n.*1905C>T) n.4534C>T c.2731C>T (p.Pro911Ser) c.3490C>T (p.Pro1164Ser) c.*3195C>T (n.*3195C>T) n.3341C>T c.*3273C>T (n.*3273C>T) n.432C>T c.3580C>T (p.Pro1194Ser) c.3538C>T (p.Pro1180Ser) c.3802C>T (p.Pro1268Ser) c.3724C>T (p.Pro1242Ser) c.3691C>T (p.Pro1231Ser) c.3700C>T (p.Pro1234Ser) c.2710C>T (p.Pro904Ser) | dbSNP gnomAD v4 |
1 | g.154584814G>C | CA342634421 | ADAR | c.3567C>G (n.3567C>G) c.3703C>G (p.Pro1235Ala) c.3556C>G (p.Pro1186Ala) c.3325C>G (p.Pro1109Ala) c.2788C>G (p.Pro930Ala) c.3673C>G (p.Pro1225Ala) n.2466C>G c.3595C>G (p.Pro1199Ala) n.3658C>G c.*1148C>G (n.*1148C>G) n.4409C>G c.*839C>G (n.*839C>G) c.*1905C>G (n.*1905C>G) n.4534C>G c.2731C>G (p.Pro911Ala) c.3490C>G (p.Pro1164Ala) c.*3195C>G (n.*3195C>G) n.3341C>G c.*3273C>G (n.*3273C>G) n.432C>G c.3580C>G (p.Pro1194Ala) c.3538C>G (p.Pro1180Ala) c.3802C>G (p.Pro1268Ala) c.3724C>G (p.Pro1242Ala) c.3691C>G (p.Pro1231Ala) c.3700C>G (p.Pro1234Ala) c.2710C>G (p.Pro904Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584814G= | CA2480931177 | ADAR | c.3567C= (n.3567C=) c.3703C= (p.Pro1235=) c.3556C= (p.Pro1186=) c.3325C= (p.Pro1109=) c.2788C= (p.Pro930=) c.3673C= (p.Pro1225=) n.2466C= c.3595C= (p.Pro1199=) n.3658C= c.*1148C= (n.*1148C=) n.4409C= c.*839C= (n.*839C=) c.*1905C= (n.*1905C=) n.4534C= c.2731C= (p.Pro911=) c.3490C= (p.Pro1164=) c.*3195C= (n.*3195C=) n.3341C= c.*3273C= (n.*3273C=) n.432C= c.3580C= (p.Pro1194=) c.3538C= (p.Pro1180=) c.3802C= (p.Pro1268=) c.3724C= (p.Pro1242=) c.3691C= (p.Pro1231=) c.3700C= (p.Pro1234=) c.2710C= (p.Pro904=) | |
1 | g.154584814G>T | CA342634420 | ADAR | c.3567C>A (n.3567C>A) c.3703C>A (p.Pro1235Thr) c.3556C>A (p.Pro1186Thr) c.3325C>A (p.Pro1109Thr) c.2788C>A (p.Pro930Thr) c.3673C>A (p.Pro1225Thr) n.2466C>A c.3595C>A (p.Pro1199Thr) n.3658C>A c.*1148C>A (n.*1148C>A) n.4409C>A c.*839C>A (n.*839C>A) c.*1905C>A (n.*1905C>A) n.4534C>A c.2731C>A (p.Pro911Thr) c.3490C>A (p.Pro1164Thr) c.*3195C>A (n.*3195C>A) n.3341C>A c.*3273C>A (n.*3273C>A) n.432C>A c.3580C>A (p.Pro1194Thr) c.3538C>A (p.Pro1180Thr) c.3802C>A (p.Pro1268Thr) c.3724C>A (p.Pro1242Thr) c.3691C>A (p.Pro1231Thr) c.3700C>A (p.Pro1234Thr) c.2710C>A (p.Pro904Thr) | |
1 | g.154584815G>A | CA421231115 | ADAR | c.3566C>T (n.3566C>T) c.3702C>T (p.Cys1234=) c.3555C>T (p.Cys1185=) c.3324C>T (p.Cys1108=) c.2787C>T (p.Cys929=) c.3672C>T (p.Cys1224=) n.2465C>T c.3594C>T (p.Cys1198=) n.3657C>T c.*1147C>T (n.*1147C>T) n.4408C>T c.*838C>T (n.*838C>T) c.*1904C>T (n.*1904C>T) n.4533C>T c.2730C>T (p.Cys910=) c.3489C>T (p.Cys1163=) c.*3194C>T (n.*3194C>T) n.3340C>T c.*3272C>T (n.*3272C>T) n.431C>T c.3579C>T (p.Cys1193=) c.3537C>T (p.Cys1179=) c.3801C>T (p.Cys1267=) c.3723C>T (p.Cys1241=) c.3690C>T (p.Cys1230=) c.3699C>T (p.Cys1233=) c.2709C>T (p.Cys903=) | |
1 | g.154584815G>C | CA342634422 | ADAR | c.3566C>G (n.3566C>G) c.3702C>G (p.Cys1234Trp) c.3555C>G (p.Cys1185Trp) c.3324C>G (p.Cys1108Trp) c.2787C>G (p.Cys929Trp) c.3672C>G (p.Cys1224Trp) n.2465C>G c.3594C>G (p.Cys1198Trp) n.3657C>G c.*1147C>G (n.*1147C>G) n.4408C>G c.*838C>G (n.*838C>G) c.*1904C>G (n.*1904C>G) n.4533C>G c.2730C>G (p.Cys910Trp) c.3489C>G (p.Cys1163Trp) c.*3194C>G (n.*3194C>G) n.3340C>G c.*3272C>G (n.*3272C>G) n.431C>G c.3579C>G (p.Cys1193Trp) c.3537C>G (p.Cys1179Trp) c.3801C>G (p.Cys1267Trp) c.3723C>G (p.Cys1241Trp) c.3690C>G (p.Cys1230Trp) c.3699C>G (p.Cys1233Trp) c.2709C>G (p.Cys903Trp) | |
1 | g.154584815G>T | CA342634423 | ADAR | c.3566C>A (n.3566C>A) c.3702C>A (p.Cys1234Ter) c.3555C>A (p.Cys1185Ter) c.3324C>A (p.Cys1108Ter) c.2787C>A (p.Cys929Ter) c.3672C>A (p.Cys1224Ter) n.2465C>A c.3594C>A (p.Cys1198Ter) n.3657C>A c.*1147C>A (n.*1147C>A) n.4408C>A c.*838C>A (n.*838C>A) c.*1904C>A (n.*1904C>A) n.4533C>A c.2730C>A (p.Cys910Ter) c.3489C>A (p.Cys1163Ter) c.*3194C>A (n.*3194C>A) n.3340C>A c.*3272C>A (n.*3272C>A) n.431C>A c.3579C>A (p.Cys1193Ter) c.3537C>A (p.Cys1179Ter) c.3801C>A (p.Cys1267Ter) c.3723C>A (p.Cys1241Ter) c.3690C>A (p.Cys1230Ter) c.3699C>A (p.Cys1233Ter) c.2709C>A (p.Cys903Ter) | |
1 | g.154584816C>A | CA342634424 | ADAR | c.3565G>T (n.3565G>T) c.3701G>T (p.Cys1234Phe) c.3554G>T (p.Cys1185Phe) c.3323G>T (p.Cys1108Phe) c.2786G>T (p.Cys929Phe) c.3671G>T (p.Cys1224Phe) n.2464G>T c.3593G>T (p.Cys1198Phe) n.3656G>T c.*1146G>T (n.*1146G>T) n.4407G>T c.*837G>T (n.*837G>T) c.*1903G>T (n.*1903G>T) n.4532G>T c.2729G>T (p.Cys910Phe) c.3488G>T (p.Cys1163Phe) c.*3193G>T (n.*3193G>T) n.3339G>T c.*3271G>T (n.*3271G>T) n.430G>T c.3578G>T (p.Cys1193Phe) c.3536G>T (p.Cys1179Phe) c.3800G>T (p.Cys1267Phe) c.3722G>T (p.Cys1241Phe) c.3689G>T (p.Cys1230Phe) c.3698G>T (p.Cys1233Phe) c.2708G>T (p.Cys903Phe) | |
1 | g.154584816C>G | CA342634425 | ADAR | c.3565G>C (n.3565G>C) c.3701G>C (p.Cys1234Ser) c.3554G>C (p.Cys1185Ser) c.3323G>C (p.Cys1108Ser) c.2786G>C (p.Cys929Ser) c.3671G>C (p.Cys1224Ser) n.2464G>C c.3593G>C (p.Cys1198Ser) n.3656G>C c.*1146G>C (n.*1146G>C) n.4407G>C c.*837G>C (n.*837G>C) c.*1903G>C (n.*1903G>C) n.4532G>C c.2729G>C (p.Cys910Ser) c.3488G>C (p.Cys1163Ser) c.*3193G>C (n.*3193G>C) n.3339G>C c.*3271G>C (n.*3271G>C) n.430G>C c.3578G>C (p.Cys1193Ser) c.3536G>C (p.Cys1179Ser) c.3800G>C (p.Cys1267Ser) c.3722G>C (p.Cys1241Ser) c.3689G>C (p.Cys1230Ser) c.3698G>C (p.Cys1233Ser) c.2708G>C (p.Cys903Ser) | |
1 | g.154584816C>T | CA342634426 | ADAR | c.3565G>A (n.3565G>A) c.3701G>A (p.Cys1234Tyr) c.3554G>A (p.Cys1185Tyr) c.3323G>A (p.Cys1108Tyr) c.2786G>A (p.Cys929Tyr) c.3671G>A (p.Cys1224Tyr) n.2464G>A c.3593G>A (p.Cys1198Tyr) n.3656G>A c.*1146G>A (n.*1146G>A) n.4407G>A c.*837G>A (n.*837G>A) c.*1903G>A (n.*1903G>A) n.4532G>A c.2729G>A (p.Cys910Tyr) c.3488G>A (p.Cys1163Tyr) c.*3193G>A (n.*3193G>A) n.3339G>A c.*3271G>A (n.*3271G>A) n.430G>A c.3578G>A (p.Cys1193Tyr) c.3536G>A (p.Cys1179Tyr) c.3800G>A (p.Cys1267Tyr) c.3722G>A (p.Cys1241Tyr) c.3689G>A (p.Cys1230Tyr) c.3698G>A (p.Cys1233Tyr) c.2708G>A (p.Cys903Tyr) | |
1 | g.154584817A= | CA2480931178 | ADAR | c.3564T= (n.3564T=) c.3700T= (p.Cys1234=) c.3553T= (p.Cys1185=) c.3322T= (p.Cys1108=) c.2785T= (p.Cys929=) c.3670T= (p.Cys1224=) n.2463T= c.3592T= (p.Cys1198=) n.3655T= c.*1145T= (n.*1145T=) n.4406T= c.*836T= (n.*836T=) c.*1902T= (n.*1902T=) n.4531T= c.2728T= (p.Cys910=) c.3487T= (p.Cys1163=) c.*3192T= (n.*3192T=) n.3338T= c.*3270T= (n.*3270T=) n.429T= c.3577T= (p.Cys1193=) c.3535T= (p.Cys1179=) c.3799T= (p.Cys1267=) c.3721T= (p.Cys1241=) c.3688T= (p.Cys1230=) c.3697T= (p.Cys1233=) c.2707T= (p.Cys903=) | |
1 | g.154584817A>C | CA342634429 | ADAR | c.3564T>G (n.3564T>G) c.3700T>G (p.Cys1234Gly) c.3553T>G (p.Cys1185Gly) c.3322T>G (p.Cys1108Gly) c.2785T>G (p.Cys929Gly) c.3670T>G (p.Cys1224Gly) n.2463T>G c.3592T>G (p.Cys1198Gly) n.3655T>G c.*1145T>G (n.*1145T>G) n.4406T>G c.*836T>G (n.*836T>G) c.*1902T>G (n.*1902T>G) n.4531T>G c.2728T>G (p.Cys910Gly) c.3487T>G (p.Cys1163Gly) c.*3192T>G (n.*3192T>G) n.3338T>G c.*3270T>G (n.*3270T>G) n.429T>G c.3577T>G (p.Cys1193Gly) c.3535T>G (p.Cys1179Gly) c.3799T>G (p.Cys1267Gly) c.3721T>G (p.Cys1241Gly) c.3688T>G (p.Cys1230Gly) c.3697T>G (p.Cys1233Gly) c.2707T>G (p.Cys903Gly) | gnomAD v4 |
1 | g.154584817A>G | CA342634427 | ADAR | c.3564T>C (n.3564T>C) c.3700T>C (p.Cys1234Arg) c.3553T>C (p.Cys1185Arg) c.3322T>C (p.Cys1108Arg) c.2785T>C (p.Cys929Arg) c.3670T>C (p.Cys1224Arg) n.2463T>C c.3592T>C (p.Cys1198Arg) n.3655T>C c.*1145T>C (n.*1145T>C) n.4406T>C c.*836T>C (n.*836T>C) c.*1902T>C (n.*1902T>C) n.4531T>C c.2728T>C (p.Cys910Arg) c.3487T>C (p.Cys1163Arg) c.*3192T>C (n.*3192T>C) n.3338T>C c.*3270T>C (n.*3270T>C) n.429T>C c.3577T>C (p.Cys1193Arg) c.3535T>C (p.Cys1179Arg) c.3799T>C (p.Cys1267Arg) c.3721T>C (p.Cys1241Arg) c.3688T>C (p.Cys1230Arg) c.3697T>C (p.Cys1233Arg) c.2707T>C (p.Cys903Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584817A>T | CA342634428 | ADAR | c.3564T>A (n.3564T>A) c.3700T>A (p.Cys1234Ser) c.3553T>A (p.Cys1185Ser) c.3322T>A (p.Cys1108Ser) c.2785T>A (p.Cys929Ser) c.3670T>A (p.Cys1224Ser) n.2463T>A c.3592T>A (p.Cys1198Ser) n.3655T>A c.*1145T>A (n.*1145T>A) n.4406T>A c.*836T>A (n.*836T>A) c.*1902T>A (n.*1902T>A) n.4531T>A c.2728T>A (p.Cys910Ser) c.3487T>A (p.Cys1163Ser) c.*3192T>A (n.*3192T>A) n.3338T>A c.*3270T>A (n.*3270T>A) n.429T>A c.3577T>A (p.Cys1193Ser) c.3535T>A (p.Cys1179Ser) c.3799T>A (p.Cys1267Ser) c.3721T>A (p.Cys1241Ser) c.3688T>A (p.Cys1230Ser) c.3697T>A (p.Cys1233Ser) c.2707T>A (p.Cys903Ser) | |
1 | g.154584818G>A | CA421231127 | ADAR | c.3563C>T (n.3563C>T) c.3699C>T (p.Leu1233=) c.3552C>T (p.Leu1184=) c.3321C>T (p.Leu1107=) c.2784C>T (p.Leu928=) c.3669C>T (p.Leu1223=) n.2462C>T c.3591C>T (p.Leu1197=) n.3654C>T c.*1144C>T (n.*1144C>T) n.4405C>T c.*835C>T (n.*835C>T) c.*1901C>T (n.*1901C>T) n.4530C>T c.2727C>T (p.Leu909=) c.3486C>T (p.Leu1162=) c.*3191C>T (n.*3191C>T) n.3337C>T c.*3269C>T (n.*3269C>T) n.428C>T c.3576C>T (p.Leu1192=) c.3534C>T (p.Leu1178=) c.3798C>T (p.Leu1266=) c.3720C>T (p.Leu1240=) c.3687C>T (p.Leu1229=) c.3696C>T (p.Leu1232=) c.2706C>T (p.Leu902=) | gnomAD v4 |
1 | g.154584818G>C | CA421231126 | ADAR | c.3563C>G (n.3563C>G) c.3699C>G (p.Leu1233=) c.3552C>G (p.Leu1184=) c.3321C>G (p.Leu1107=) c.2784C>G (p.Leu928=) c.3669C>G (p.Leu1223=) n.2462C>G c.3591C>G (p.Leu1197=) n.3654C>G c.*1144C>G (n.*1144C>G) n.4405C>G c.*835C>G (n.*835C>G) c.*1901C>G (n.*1901C>G) n.4530C>G c.2727C>G (p.Leu909=) c.3486C>G (p.Leu1162=) c.*3191C>G (n.*3191C>G) n.3337C>G c.*3269C>G (n.*3269C>G) n.428C>G c.3576C>G (p.Leu1192=) c.3534C>G (p.Leu1178=) c.3798C>G (p.Leu1266=) c.3720C>G (p.Leu1240=) c.3687C>G (p.Leu1229=) c.3696C>G (p.Leu1232=) c.2706C>G (p.Leu902=) | |
1 | g.154584818G>T | CA421231125 | ADAR | c.3563C>A (n.3563C>A) c.3699C>A (p.Leu1233=) c.3552C>A (p.Leu1184=) c.3321C>A (p.Leu1107=) c.2784C>A (p.Leu928=) c.3669C>A (p.Leu1223=) n.2462C>A c.3591C>A (p.Leu1197=) n.3654C>A c.*1144C>A (n.*1144C>A) n.4405C>A c.*835C>A (n.*835C>A) c.*1901C>A (n.*1901C>A) n.4530C>A c.2727C>A (p.Leu909=) c.3486C>A (p.Leu1162=) c.*3191C>A (n.*3191C>A) n.3337C>A c.*3269C>A (n.*3269C>A) n.428C>A c.3576C>A (p.Leu1192=) c.3534C>A (p.Leu1178=) c.3798C>A (p.Leu1266=) c.3720C>A (p.Leu1240=) c.3687C>A (p.Leu1229=) c.3696C>A (p.Leu1232=) c.2706C>A (p.Leu902=) | |
1 | g.154584819A>C | CA342634430 | ADAR | c.3562T>G (n.3562T>G) c.3698T>G (p.Leu1233Arg) c.3551T>G (p.Leu1184Arg) c.3320T>G (p.Leu1107Arg) c.2783T>G (p.Leu928Arg) c.3668T>G (p.Leu1223Arg) n.2461T>G c.3590T>G (p.Leu1197Arg) n.3653T>G c.*1143T>G (n.*1143T>G) n.4404T>G c.*834T>G (n.*834T>G) c.*1900T>G (n.*1900T>G) n.4529T>G c.2726T>G (p.Leu909Arg) c.3485T>G (p.Leu1162Arg) c.*3190T>G (n.*3190T>G) n.3336T>G c.*3268T>G (n.*3268T>G) n.427T>G c.3575T>G (p.Leu1192Arg) c.3533T>G (p.Leu1178Arg) c.3797T>G (p.Leu1266Arg) c.3719T>G (p.Leu1240Arg) c.3686T>G (p.Leu1229Arg) c.3695T>G (p.Leu1232Arg) c.2705T>G (p.Leu902Arg) | |
1 | g.154584819A>G | CA342634431 | ADAR | c.3562T>C (n.3562T>C) c.3698T>C (p.Leu1233Pro) c.3551T>C (p.Leu1184Pro) c.3320T>C (p.Leu1107Pro) c.2783T>C (p.Leu928Pro) c.3668T>C (p.Leu1223Pro) n.2461T>C c.3590T>C (p.Leu1197Pro) n.3653T>C c.*1143T>C (n.*1143T>C) n.4404T>C c.*834T>C (n.*834T>C) c.*1900T>C (n.*1900T>C) n.4529T>C c.2726T>C (p.Leu909Pro) c.3485T>C (p.Leu1162Pro) c.*3190T>C (n.*3190T>C) n.3336T>C c.*3268T>C (n.*3268T>C) n.427T>C c.3575T>C (p.Leu1192Pro) c.3533T>C (p.Leu1178Pro) c.3797T>C (p.Leu1266Pro) c.3719T>C (p.Leu1240Pro) c.3686T>C (p.Leu1229Pro) c.3695T>C (p.Leu1232Pro) c.2705T>C (p.Leu902Pro) | |
1 | g.154584819A>T | CA342634432 | ADAR | c.3562T>A (n.3562T>A) c.3698T>A (p.Leu1233His) c.3551T>A (p.Leu1184His) c.3320T>A (p.Leu1107His) c.2783T>A (p.Leu928His) c.3668T>A (p.Leu1223His) n.2461T>A c.3590T>A (p.Leu1197His) n.3653T>A c.*1143T>A (n.*1143T>A) n.4404T>A c.*834T>A (n.*834T>A) c.*1900T>A (n.*1900T>A) n.4529T>A c.2726T>A (p.Leu909His) c.3485T>A (p.Leu1162His) c.*3190T>A (n.*3190T>A) n.3336T>A c.*3268T>A (n.*3268T>A) n.427T>A c.3575T>A (p.Leu1192His) c.3533T>A (p.Leu1178His) c.3797T>A (p.Leu1266His) c.3719T>A (p.Leu1240His) c.3686T>A (p.Leu1229His) c.3695T>A (p.Leu1232His) c.2705T>A (p.Leu902His) | |
1 | g.154584820G>A | CA342634433 | ADAR | c.3561C>T (n.3561C>T) c.3697C>T (p.Leu1233Phe) c.3550C>T (p.Leu1184Phe) c.3319C>T (p.Leu1107Phe) c.2782C>T (p.Leu928Phe) c.3667C>T (p.Leu1223Phe) n.2460C>T c.3589C>T (p.Leu1197Phe) n.3652C>T c.*1142C>T (n.*1142C>T) n.4403C>T c.*833C>T (n.*833C>T) c.*1899C>T (n.*1899C>T) n.4528C>T c.2725C>T (p.Leu909Phe) c.3484C>T (p.Leu1162Phe) c.*3189C>T (n.*3189C>T) n.3335C>T c.*3267C>T (n.*3267C>T) n.426C>T c.3574C>T (p.Leu1192Phe) c.3532C>T (p.Leu1178Phe) c.3796C>T (p.Leu1266Phe) c.3718C>T (p.Leu1240Phe) c.3685C>T (p.Leu1229Phe) c.3694C>T (p.Leu1232Phe) c.2704C>T (p.Leu902Phe) | |
1 | g.154584820G>C | CA342634434 | ADAR | c.3561C>G (n.3561C>G) c.3697C>G (p.Leu1233Val) c.3550C>G (p.Leu1184Val) c.3319C>G (p.Leu1107Val) c.2782C>G (p.Leu928Val) c.3667C>G (p.Leu1223Val) n.2460C>G c.3589C>G (p.Leu1197Val) n.3652C>G c.*1142C>G (n.*1142C>G) n.4403C>G c.*833C>G (n.*833C>G) c.*1899C>G (n.*1899C>G) n.4528C>G c.2725C>G (p.Leu909Val) c.3484C>G (p.Leu1162Val) c.*3189C>G (n.*3189C>G) n.3335C>G c.*3267C>G (n.*3267C>G) n.426C>G c.3574C>G (p.Leu1192Val) c.3532C>G (p.Leu1178Val) c.3796C>G (p.Leu1266Val) c.3718C>G (p.Leu1240Val) c.3685C>G (p.Leu1229Val) c.3694C>G (p.Leu1232Val) c.2704C>G (p.Leu902Val) | COSMIC COSMIC |
1 | g.154584820G>T | CA342634435 | ADAR | c.3561C>A (n.3561C>A) c.3697C>A (p.Leu1233Ile) c.3550C>A (p.Leu1184Ile) c.3319C>A (p.Leu1107Ile) c.2782C>A (p.Leu928Ile) c.3667C>A (p.Leu1223Ile) n.2460C>A c.3589C>A (p.Leu1197Ile) n.3652C>A c.*1142C>A (n.*1142C>A) n.4403C>A c.*833C>A (n.*833C>A) c.*1899C>A (n.*1899C>A) n.4528C>A c.2725C>A (p.Leu909Ile) c.3484C>A (p.Leu1162Ile) c.*3189C>A (n.*3189C>A) n.3335C>A c.*3267C>A (n.*3267C>A) n.426C>A c.3574C>A (p.Leu1192Ile) c.3532C>A (p.Leu1178Ile) c.3796C>A (p.Leu1266Ile) c.3718C>A (p.Leu1240Ile) c.3685C>A (p.Leu1229Ile) c.3694C>A (p.Leu1232Ile) c.2704C>A (p.Leu902Ile) | |
1 | g.154584821A>C | CA342634436 | ADAR | c.3560T>G (n.3560T>G) c.3696T>G (p.Tyr1232Ter) c.3549T>G (p.Tyr1183Ter) c.3318T>G (p.Tyr1106Ter) c.2781T>G (p.Tyr927Ter) c.3666T>G (p.Tyr1222Ter) n.2459T>G c.3588T>G (p.Tyr1196Ter) n.3651T>G c.*1141T>G (n.*1141T>G) n.4402T>G c.*832T>G (n.*832T>G) c.*1898T>G (n.*1898T>G) n.4527T>G c.2724T>G (p.Tyr908Ter) c.3483T>G (p.Tyr1161Ter) c.*3188T>G (n.*3188T>G) n.3334T>G c.*3266T>G (n.*3266T>G) n.425T>G c.3573T>G (p.Tyr1191Ter) c.3531T>G (p.Tyr1177Ter) c.3795T>G (p.Tyr1265Ter) c.3717T>G (p.Tyr1239Ter) c.3684T>G (p.Tyr1228Ter) c.3693T>G (p.Tyr1231Ter) c.2703T>G (p.Tyr901Ter) | |
1 | g.154584821A>G | CA421231132 | ADAR | c.3560T>C (n.3560T>C) c.3696T>C (p.Tyr1232=) c.3549T>C (p.Tyr1183=) c.3318T>C (p.Tyr1106=) c.2781T>C (p.Tyr927=) c.3666T>C (p.Tyr1222=) n.2459T>C c.3588T>C (p.Tyr1196=) n.3651T>C c.*1141T>C (n.*1141T>C) n.4402T>C c.*832T>C (n.*832T>C) c.*1898T>C (n.*1898T>C) n.4527T>C c.2724T>C (p.Tyr908=) c.3483T>C (p.Tyr1161=) c.*3188T>C (n.*3188T>C) n.3334T>C c.*3266T>C (n.*3266T>C) n.425T>C c.3573T>C (p.Tyr1191=) c.3531T>C (p.Tyr1177=) c.3795T>C (p.Tyr1265=) c.3717T>C (p.Tyr1239=) c.3684T>C (p.Tyr1228=) c.3693T>C (p.Tyr1231=) c.2703T>C (p.Tyr901=) | |
1 | g.154584821A>T | CA342634437 | ADAR | c.3560T>A (n.3560T>A) c.3696T>A (p.Tyr1232Ter) c.3549T>A (p.Tyr1183Ter) c.3318T>A (p.Tyr1106Ter) c.2781T>A (p.Tyr927Ter) c.3666T>A (p.Tyr1222Ter) n.2459T>A c.3588T>A (p.Tyr1196Ter) n.3651T>A c.*1141T>A (n.*1141T>A) n.4402T>A c.*832T>A (n.*832T>A) c.*1898T>A (n.*1898T>A) n.4527T>A c.2724T>A (p.Tyr908Ter) c.3483T>A (p.Tyr1161Ter) c.*3188T>A (n.*3188T>A) n.3334T>A c.*3266T>A (n.*3266T>A) n.425T>A c.3573T>A (p.Tyr1191Ter) c.3531T>A (p.Tyr1177Ter) c.3795T>A (p.Tyr1265Ter) c.3717T>A (p.Tyr1239Ter) c.3684T>A (p.Tyr1228Ter) c.3693T>A (p.Tyr1231Ter) c.2703T>A (p.Tyr901Ter) | |
1 | g.154584822T>A | CA342634438 | ADAR | c.3559A>T (n.3559A>T) c.3695A>T (p.Tyr1232Phe) c.3548A>T (p.Tyr1183Phe) c.3317A>T (p.Tyr1106Phe) c.2780A>T (p.Tyr927Phe) c.3665A>T (p.Tyr1222Phe) n.2458A>T c.3587A>T (p.Tyr1196Phe) n.3650A>T c.*1140A>T (n.*1140A>T) n.4401A>T c.*831A>T (n.*831A>T) c.*1897A>T (n.*1897A>T) n.4526A>T c.2723A>T (p.Tyr908Phe) c.3482A>T (p.Tyr1161Phe) c.*3187A>T (n.*3187A>T) n.3333A>T c.*3265A>T (n.*3265A>T) n.424A>T c.3572A>T (p.Tyr1191Phe) c.3530A>T (p.Tyr1177Phe) c.3794A>T (p.Tyr1265Phe) c.3716A>T (p.Tyr1239Phe) c.3683A>T (p.Tyr1228Phe) c.3692A>T (p.Tyr1231Phe) c.2702A>T (p.Tyr901Phe) | |
1 | g.154584822T>C | CA342634440 | ADAR | c.3559A>G (n.3559A>G) c.3695A>G (p.Tyr1232Cys) c.3548A>G (p.Tyr1183Cys) c.3317A>G (p.Tyr1106Cys) c.2780A>G (p.Tyr927Cys) c.3665A>G (p.Tyr1222Cys) n.2458A>G c.3587A>G (p.Tyr1196Cys) n.3650A>G c.*1140A>G (n.*1140A>G) n.4401A>G c.*831A>G (n.*831A>G) c.*1897A>G (n.*1897A>G) n.4526A>G c.2723A>G (p.Tyr908Cys) c.3482A>G (p.Tyr1161Cys) c.*3187A>G (n.*3187A>G) n.3333A>G c.*3265A>G (n.*3265A>G) n.424A>G c.3572A>G (p.Tyr1191Cys) c.3530A>G (p.Tyr1177Cys) c.3794A>G (p.Tyr1265Cys) c.3716A>G (p.Tyr1239Cys) c.3683A>G (p.Tyr1228Cys) c.3692A>G (p.Tyr1231Cys) c.2702A>G (p.Tyr901Cys) | |
1 | g.154584822T>G | CA342634439 | ADAR | c.3559A>C (n.3559A>C) c.3695A>C (p.Tyr1232Ser) c.3548A>C (p.Tyr1183Ser) c.3317A>C (p.Tyr1106Ser) c.2780A>C (p.Tyr927Ser) c.3665A>C (p.Tyr1222Ser) n.2458A>C c.3587A>C (p.Tyr1196Ser) n.3650A>C c.*1140A>C (n.*1140A>C) n.4401A>C c.*831A>C (n.*831A>C) c.*1897A>C (n.*1897A>C) n.4526A>C c.2723A>C (p.Tyr908Ser) c.3482A>C (p.Tyr1161Ser) c.*3187A>C (n.*3187A>C) n.3333A>C c.*3265A>C (n.*3265A>C) n.424A>C c.3572A>C (p.Tyr1191Ser) c.3530A>C (p.Tyr1177Ser) c.3794A>C (p.Tyr1265Ser) c.3716A>C (p.Tyr1239Ser) c.3683A>C (p.Tyr1228Ser) c.3692A>C (p.Tyr1231Ser) c.2702A>C (p.Tyr901Ser) | ClinVar |
1 | g.154584823A>C | CA342634441 | ADAR | c.3558T>G (n.3558T>G) c.3694T>G (p.Tyr1232Asp) c.3547T>G (p.Tyr1183Asp) c.3316T>G (p.Tyr1106Asp) c.2779T>G (p.Tyr927Asp) c.3664T>G (p.Tyr1222Asp) n.2457T>G c.3586T>G (p.Tyr1196Asp) n.3649T>G c.*1139T>G (n.*1139T>G) n.4400T>G c.*830T>G (n.*830T>G) c.*1896T>G (n.*1896T>G) n.4525T>G c.2722T>G (p.Tyr908Asp) c.3481T>G (p.Tyr1161Asp) c.*3186T>G (n.*3186T>G) n.3332T>G c.*3264T>G (n.*3264T>G) n.423T>G c.3571T>G (p.Tyr1191Asp) c.3529T>G (p.Tyr1177Asp) c.3793T>G (p.Tyr1265Asp) c.3715T>G (p.Tyr1239Asp) c.3682T>G (p.Tyr1228Asp) c.3691T>G (p.Tyr1231Asp) c.2701T>G (p.Tyr901Asp) | |
1 | g.154584823A>G | CA342634442 | ADAR | c.3558T>C (n.3558T>C) c.3694T>C (p.Tyr1232His) c.3547T>C (p.Tyr1183His) c.3316T>C (p.Tyr1106His) c.2779T>C (p.Tyr927His) c.3664T>C (p.Tyr1222His) n.2457T>C c.3586T>C (p.Tyr1196His) n.3649T>C c.*1139T>C (n.*1139T>C) n.4400T>C c.*830T>C (n.*830T>C) c.*1896T>C (n.*1896T>C) n.4525T>C c.2722T>C (p.Tyr908His) c.3481T>C (p.Tyr1161His) c.*3186T>C (n.*3186T>C) n.3332T>C c.*3264T>C (n.*3264T>C) n.423T>C c.3571T>C (p.Tyr1191His) c.3529T>C (p.Tyr1177His) c.3793T>C (p.Tyr1265His) c.3715T>C (p.Tyr1239His) c.3682T>C (p.Tyr1228His) c.3691T>C (p.Tyr1231His) c.2701T>C (p.Tyr901His) | |
1 | g.154584823A>T | CA342634443 | ADAR | c.3558T>A (n.3558T>A) c.3694T>A (p.Tyr1232Asn) c.3547T>A (p.Tyr1183Asn) c.3316T>A (p.Tyr1106Asn) c.2779T>A (p.Tyr927Asn) c.3664T>A (p.Tyr1222Asn) n.2457T>A c.3586T>A (p.Tyr1196Asn) n.3649T>A c.*1139T>A (n.*1139T>A) n.4400T>A c.*830T>A (n.*830T>A) c.*1896T>A (n.*1896T>A) n.4525T>A c.2722T>A (p.Tyr908Asn) c.3481T>A (p.Tyr1161Asn) c.*3186T>A (n.*3186T>A) n.3332T>A c.*3264T>A (n.*3264T>A) n.423T>A c.3571T>A (p.Tyr1191Asn) c.3529T>A (p.Tyr1177Asn) c.3793T>A (p.Tyr1265Asn) c.3715T>A (p.Tyr1239Asn) c.3682T>A (p.Tyr1228Asn) c.3691T>A (p.Tyr1231Asn) c.2701T>A (p.Tyr901Asn) | |
1 | g.154584824A= | CA2480931179 | ADAR | c.3557T= (n.3557T=) c.3693T= (p.Phe1231=) c.3546T= (p.Phe1182=) c.3315T= (p.Phe1105=) c.2778T= (p.Phe926=) c.3663T= (p.Phe1221=) n.2456T= c.3585T= (p.Phe1195=) n.3648T= c.*1138T= (n.*1138T=) n.4399T= c.*829T= (n.*829T=) c.*1895T= (n.*1895T=) n.4524T= c.2721T= (p.Phe907=) c.3480T= (p.Phe1160=) c.*3185T= (n.*3185T=) n.3331T= c.*3263T= (n.*3263T=) n.422T= c.3570T= (p.Phe1190=) c.3528T= (p.Phe1176=) c.3792T= (p.Phe1264=) c.3714T= (p.Phe1238=) c.3681T= (p.Phe1227=) c.3690T= (p.Phe1230=) c.2700T= (p.Phe900=) | |
1 | g.154584824A>C | CA342634444 | ADAR | c.3557T>G (n.3557T>G) c.3693T>G (p.Phe1231Leu) c.3546T>G (p.Phe1182Leu) c.3315T>G (p.Phe1105Leu) c.2778T>G (p.Phe926Leu) c.3663T>G (p.Phe1221Leu) n.2456T>G c.3585T>G (p.Phe1195Leu) n.3648T>G c.*1138T>G (n.*1138T>G) n.4399T>G c.*829T>G (n.*829T>G) c.*1895T>G (n.*1895T>G) n.4524T>G c.2721T>G (p.Phe907Leu) c.3480T>G (p.Phe1160Leu) c.*3185T>G (n.*3185T>G) n.3331T>G c.*3263T>G (n.*3263T>G) n.422T>G c.3570T>G (p.Phe1190Leu) c.3528T>G (p.Phe1176Leu) c.3792T>G (p.Phe1264Leu) c.3714T>G (p.Phe1238Leu) c.3681T>G (p.Phe1227Leu) c.3690T>G (p.Phe1230Leu) c.2700T>G (p.Phe900Leu) | |
1 | g.154584824A>G | CA30848545 | ADAR | c.3557T>C (n.3557T>C) c.3693T>C (p.Phe1231=) c.3546T>C (p.Phe1182=) c.3315T>C (p.Phe1105=) c.2778T>C (p.Phe926=) c.3663T>C (p.Phe1221=) n.2456T>C c.3585T>C (p.Phe1195=) n.3648T>C c.*1138T>C (n.*1138T>C) n.4399T>C c.*829T>C (n.*829T>C) c.*1895T>C (n.*1895T>C) n.4524T>C c.2721T>C (p.Phe907=) c.3480T>C (p.Phe1160=) c.*3185T>C (n.*3185T>C) n.3331T>C c.*3263T>C (n.*3263T>C) n.422T>C c.3570T>C (p.Phe1190=) c.3528T>C (p.Phe1176=) c.3792T>C (p.Phe1264=) c.3714T>C (p.Phe1238=) c.3681T>C (p.Phe1227=) c.3690T>C (p.Phe1230=) c.2700T>C (p.Phe900=) | ClinVar dbSNP |