Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154584793T>A | CA2648175330 | ADAR | c.3588A>T (n.3588A>T) c.*13A>T (n.*13A>T) c.3577A>T (n.3577A>T) n.2487A>T n.3679A>T c.*1169A>T (n.*1169A>T) n.4430A>T c.*860A>T (n.*860A>T) c.*1926A>T (n.*1926A>T) n.4555A>T c.*3216A>T (n.*3216A>T) n.3362A>T c.*3294A>T (n.*3294A>T) n.453A>T | gnomAD v4 |
1 | g.154584794C>G | CA2573911987 | ADAR | c.3587G>C (n.3587G>C) c.*12G>C (n.*12G>C) c.3576G>C (n.3576G>C) n.2486G>C n.3678G>C c.*1168G>C (n.*1168G>C) n.4429G>C c.*859G>C (n.*859G>C) c.*1925G>C (n.*1925G>C) n.4554G>C c.*3215G>C (n.*3215G>C) n.3361G>C c.*3293G>C (n.*3293G>C) n.452G>C | gnomAD v4 |
1 | g.154584794C>T | CA2746189591 | ADAR | c.3587G>A (n.3587G>A) c.*12G>A (n.*12G>A) c.3576G>A (n.3576G>A) n.2486G>A n.3678G>A c.*1168G>A (n.*1168G>A) n.4429G>A c.*859G>A (n.*859G>A) c.*1925G>A (n.*1925G>A) n.4554G>A c.*3215G>A (n.*3215G>A) n.3361G>A c.*3293G>A (n.*3293G>A) n.452G>A | |
1 | g.154584796C= | CA2480931172 | ADAR | c.3585G= (n.3585G=) c.*10G= (n.*10G=) c.3574G= (n.3574G=) n.2484G= n.3676G= c.*1166G= (n.*1166G=) n.4427G= c.*857G= (n.*857G=) c.*1923G= (n.*1923G=) n.4552G= c.*3213G= (n.*3213G=) n.3359G= c.*3291G= (n.*3291G=) n.450G= | |
1 | g.154584796C>G | CA1130909 | ADAR | c.3585G>C (n.3585G>C) c.*10G>C (n.*10G>C) c.3574G>C (n.3574G>C) n.2484G>C n.3676G>C c.*1166G>C (n.*1166G>C) n.4427G>C c.*857G>C (n.*857G>C) c.*1923G>C (n.*1923G>C) n.4552G>C c.*3213G>C (n.*3213G>C) n.3359G>C c.*3291G>C (n.*3291G>C) n.450G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154584796C>T | CA30848475 | ADAR | c.3585G>A (n.3585G>A) c.*10G>A (n.*10G>A) c.3574G>A (n.3574G>A) n.2484G>A n.3676G>A c.*1166G>A (n.*1166G>A) n.4427G>A c.*857G>A (n.*857G>A) c.*1923G>A (n.*1923G>A) n.4552G>A c.*3213G>A (n.*3213G>A) n.3359G>A c.*3291G>A (n.*3291G>A) n.450G>A | dbSNP gnomAD v4 |
1 | g.154584797T>A | CA2648175337 | ADAR | c.3584A>T (n.3584A>T) c.*9A>T (n.*9A>T) c.3573A>T (n.3573A>T) n.2483A>T n.3675A>T c.*1165A>T (n.*1165A>T) n.4426A>T c.*856A>T (n.*856A>T) c.*1922A>T (n.*1922A>T) n.4551A>T c.*3212A>T (n.*3212A>T) n.3358A>T c.*3290A>T (n.*3290A>T) n.449A>T | gnomAD v4 |
1 | g.154584798G>A | CA2648175339 | ADAR | c.3583C>T (n.3583C>T) c.*8C>T (n.*8C>T) c.3572C>T (n.3572C>T) n.2482C>T n.3674C>T c.*1164C>T (n.*1164C>T) n.4425C>T c.*855C>T (n.*855C>T) c.*1921C>T (n.*1921C>T) n.4550C>T c.*3211C>T (n.*3211C>T) n.3357C>T c.*3289C>T (n.*3289C>T) n.448C>T | gnomAD v4 |
1 | g.154584799G>A | CA1130910 | ADAR | c.3582C>T (n.3582C>T) c.*7C>T (n.*7C>T) c.3571C>T (n.3571C>T) n.2481C>T n.3673C>T c.*1163C>T (n.*1163C>T) n.4424C>T c.*854C>T (n.*854C>T) c.*1920C>T (n.*1920C>T) n.4549C>T c.*3210C>T (n.*3210C>T) n.3356C>T c.*3288C>T (n.*3288C>T) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154584799G= | CA1143721978 | ADAR | c.3582C= (n.3582C=) c.*7C= (n.*7C=) c.3571C= (n.3571C=) n.2481C= n.3673C= c.*1163C= (n.*1163C=) n.4424C= c.*854C= (n.*854C=) c.*1920C= (n.*1920C=) n.4549C= c.*3210C= (n.*3210C=) n.3356C= c.*3288C= (n.*3288C=) n.447C= | |
1 | g.154584800A= | CA2480931173 | ADAR | c.3581T= (n.3581T=) c.*6T= (n.*6T=) c.3570T= (n.3570T=) n.2480T= n.3672T= c.*1162T= (n.*1162T=) n.4423T= c.*853T= (n.*853T=) c.*1919T= (n.*1919T=) n.4548T= c.*3209T= (n.*3209T=) n.3355T= c.*3287T= (n.*3287T=) n.446T= | |
1 | g.154584800A>G | CA1130911 | ADAR | c.3581T>C (n.3581T>C) c.*6T>C (n.*6T>C) c.3570T>C (n.3570T>C) n.2480T>C n.3672T>C c.*1162T>C (n.*1162T>C) n.4423T>C c.*853T>C (n.*853T>C) c.*1919T>C (n.*1919T>C) n.4548T>C c.*3209T>C (n.*3209T>C) n.3355T>C c.*3287T>C (n.*3287T>C) n.446T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154584803A= | CA1148730894 | ADAR | c.3578T= (n.3578T=) c.*3T= (n.*3T=) c.3567T= (n.3567T=) n.2477T= n.3669T= c.*1159T= (n.*1159T=) n.4420T= c.*850T= (n.*850T=) c.*1916T= (n.*1916T=) n.4545T= c.*3206T= (n.*3206T=) n.3352T= c.*3284T= (n.*3284T=) n.443T= | |
1 | g.154584803A>G | CA1130912 | ADAR | c.3578T>C (n.3578T>C) c.*3T>C (n.*3T>C) c.3567T>C (n.3567T>C) n.2477T>C n.3669T>C c.*1159T>C (n.*1159T>C) n.4420T>C c.*850T>C (n.*850T>C) c.*1916T>C (n.*1916T>C) n.4545T>C c.*3206T>C (n.*3206T>C) n.3352T>C c.*3284T>C (n.*3284T>C) n.443T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154584803dup | CA2648175346 | ADAR | c.3578dup (n.3578dup) c.*3dup (n.*3dup) c.3567dup (n.3567dup) n.2477dup n.3669dup c.*1159dup (n.*1159dup) n.4420dup c.*850dup (n.*850dup) c.*1916dup (n.*1916dup) n.4545dup c.*3206dup (n.*3206dup) n.3352dup c.*3284dup (n.*3284dup) n.443dup | gnomAD v4 |
1 | g.154584804T>C | CA1130913 | ADAR | c.3577A>G (n.3577A>G) c.*2A>G (n.*2A>G) c.3566A>G (n.3566A>G) n.2476A>G n.3668A>G c.*1158A>G (n.*1158A>G) n.4419A>G c.*849A>G (n.*849A>G) c.*1915A>G (n.*1915A>G) n.4544A>G c.*3205A>G (n.*3205A>G) n.3351A>G c.*3283A>G (n.*3283A>G) n.442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154584804T= | CA2480931174 | ADAR | c.3577A= (n.3577A=) c.*2A= (n.*2A=) c.3566A= (n.3566A=) n.2476A= n.3668A= c.*1158A= (n.*1158A=) n.4419A= c.*849A= (n.*849A=) c.*1915A= (n.*1915A=) n.4544A= c.*3205A= (n.*3205A=) n.3351A= c.*3283A= (n.*3283A=) n.442A= | |
1 | g.154584805A= | CA1142142179 | ADAR | c.3576T= (n.3576T=) c.*1T= (n.*1T=) c.3565T= (n.3565T=) n.2475T= n.3667T= c.*1157T= (n.*1157T=) n.4418T= c.*848T= (n.*848T=) c.*1914T= (n.*1914T=) n.4543T= c.*3204T= (n.*3204T=) n.3350T= c.*3282T= (n.*3282T=) n.441T= | |
1 | g.154584805A>C | CA421231093 | ADAR | c.3576T>G (n.3576T>G) c.*1T>G (n.*1T>G) c.3565T>G (n.3565T>G) n.2475T>G n.3667T>G c.*1157T>G (n.*1157T>G) n.4418T>G c.*848T>G (n.*848T>G) c.*1914T>G (n.*1914T>G) n.4543T>G c.*3204T>G (n.*3204T>G) n.3350T>G c.*3282T>G (n.*3282T>G) n.441T>G | |
1 | g.154584805A>G | CA1130914 | ADAR | c.3576T>C (n.3576T>C) c.*1T>C (n.*1T>C) c.3565T>C (n.3565T>C) n.2475T>C n.3667T>C c.*1157T>C (n.*1157T>C) n.4418T>C c.*848T>C (n.*848T>C) c.*1914T>C (n.*1914T>C) n.4543T>C c.*3204T>C (n.*3204T>C) n.3350T>C c.*3282T>C (n.*3282T>C) n.441T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154584806C>A | CA342634404 | ADAR | c.3575G>T (n.3575G>T) c.3711G>T (p.Ter1237Tyr) c.3564G>T (p.Ter1188Tyr) c.3333G>T (p.Ter1111Tyr) c.2796G>T (p.Ter932Tyr) c.3681G>T (p.Ter1227Tyr) n.2474G>T c.3603G>T (p.Ter1201Tyr) n.3666G>T c.*1156G>T (n.*1156G>T) n.4417G>T c.*847G>T (n.*847G>T) c.*1913G>T (n.*1913G>T) n.4542G>T c.2739G>T (p.Ter913Tyr) c.3498G>T (p.Ter1166Tyr) c.*3203G>T (n.*3203G>T) n.3349G>T c.*3281G>T (n.*3281G>T) n.440G>T c.3546G>T (p.Ter1182Tyr) c.3810G>T (p.Ter1270Tyr) c.3732G>T (p.Ter1244Tyr) c.3699G>T (p.Ter1233Tyr) c.3708G>T (p.Ter1236Tyr) c.2718G>T (p.Ter906Tyr) | |
1 | g.154584806C>G | CA342634405 | ADAR | c.3575G>C (n.3575G>C) c.3711G>C (p.Ter1237Tyr) c.3564G>C (p.Ter1188Tyr) c.3333G>C (p.Ter1111Tyr) c.2796G>C (p.Ter932Tyr) c.3681G>C (p.Ter1227Tyr) n.2474G>C c.3603G>C (p.Ter1201Tyr) n.3666G>C c.*1156G>C (n.*1156G>C) n.4417G>C c.*847G>C (n.*847G>C) c.*1913G>C (n.*1913G>C) n.4542G>C c.2739G>C (p.Ter913Tyr) c.3498G>C (p.Ter1166Tyr) c.*3203G>C (n.*3203G>C) n.3349G>C c.*3281G>C (n.*3281G>C) n.440G>C c.3546G>C (p.Ter1182Tyr) c.3810G>C (p.Ter1270Tyr) c.3732G>C (p.Ter1244Tyr) c.3699G>C (p.Ter1233Tyr) c.3708G>C (p.Ter1236Tyr) c.2718G>C (p.Ter906Tyr) | gnomAD v4 |
1 | g.154584806C>T | CA421231094 | ADAR | c.3575G>A (n.3575G>A) c.3711G>A (p.Ter1237=) c.3564G>A (p.Ter1188=) c.3333G>A (p.Ter1111=) c.2796G>A (p.Ter932=) c.3681G>A (p.Ter1227=) n.2474G>A c.3603G>A (p.Ter1201=) n.3666G>A c.*1156G>A (n.*1156G>A) n.4417G>A c.*847G>A (n.*847G>A) c.*1913G>A (n.*1913G>A) n.4542G>A c.2739G>A (p.Ter913=) c.3498G>A (p.Ter1166=) c.*3203G>A (n.*3203G>A) n.3349G>A c.*3281G>A (n.*3281G>A) n.440G>A c.3546G>A (p.Ter1182=) c.3810G>A (p.Ter1270=) c.3732G>A (p.Ter1244=) c.3699G>A (p.Ter1233=) c.3708G>A (p.Ter1236=) c.2718G>A (p.Ter906=) | |
1 | g.154584807T>A | CA342634407 | ADAR | c.3574A>T (n.3574A>T) c.3710A>T (p.Ter1237Leu) c.3563A>T (p.Ter1188Leu) c.3332A>T (p.Ter1111Leu) c.2795A>T (p.Ter932Leu) c.3680A>T (p.Ter1227Leu) n.2473A>T c.3602A>T (p.Ter1201Leu) n.3665A>T c.*1155A>T (n.*1155A>T) n.4416A>T c.*846A>T (n.*846A>T) c.*1912A>T (n.*1912A>T) n.4541A>T c.2738A>T (p.Ter913Leu) c.3497A>T (p.Ter1166Leu) c.*3202A>T (n.*3202A>T) n.3348A>T c.*3280A>T (n.*3280A>T) n.439A>T c.3545A>T (p.Ter1182Leu) c.3809A>T (p.Ter1270Leu) c.3731A>T (p.Ter1244Leu) c.3698A>T (p.Ter1233Leu) c.3707A>T (p.Ter1236Leu) c.2717A>T (p.Ter906Leu) | |
1 | g.154584807T>C | CA342634408 | ADAR | c.3574A>G (n.3574A>G) c.3710A>G (p.Ter1237Trp) c.3563A>G (p.Ter1188Trp) c.3332A>G (p.Ter1111Trp) c.2795A>G (p.Ter932Trp) c.3680A>G (p.Ter1227Trp) n.2473A>G c.3602A>G (p.Ter1201Trp) n.3665A>G c.*1155A>G (n.*1155A>G) n.4416A>G c.*846A>G (n.*846A>G) c.*1912A>G (n.*1912A>G) n.4541A>G c.2738A>G (p.Ter913Trp) c.3497A>G (p.Ter1166Trp) c.*3202A>G (n.*3202A>G) n.3348A>G c.*3280A>G (n.*3280A>G) n.439A>G c.3545A>G (p.Ter1182Trp) c.3809A>G (p.Ter1270Trp) c.3731A>G (p.Ter1244Trp) c.3698A>G (p.Ter1233Trp) c.3707A>G (p.Ter1236Trp) c.2717A>G (p.Ter906Trp) | |
1 | g.154584807T>G | CA342634406 | ADAR | c.3574A>C (n.3574A>C) c.3710A>C (p.Ter1237Ser) c.3563A>C (p.Ter1188Ser) c.3332A>C (p.Ter1111Ser) c.2795A>C (p.Ter932Ser) c.3680A>C (p.Ter1227Ser) n.2473A>C c.3602A>C (p.Ter1201Ser) n.3665A>C c.*1155A>C (n.*1155A>C) n.4416A>C c.*846A>C (n.*846A>C) c.*1912A>C (n.*1912A>C) n.4541A>C c.2738A>C (p.Ter913Ser) c.3497A>C (p.Ter1166Ser) c.*3202A>C (n.*3202A>C) n.3348A>C c.*3280A>C (n.*3280A>C) n.439A>C c.3545A>C (p.Ter1182Ser) c.3809A>C (p.Ter1270Ser) c.3731A>C (p.Ter1244Ser) c.3698A>C (p.Ter1233Ser) c.3707A>C (p.Ter1236Ser) c.2717A>C (p.Ter906Ser) | |
1 | g.154584808A>C | CA342634409 | ADAR | c.3573T>G (n.3573T>G) c.3709T>G (p.Ter1237Glu) c.3562T>G (p.Ter1188Glu) c.3331T>G (p.Ter1111Glu) c.2794T>G (p.Ter932Glu) c.3679T>G (p.Ter1227Glu) n.2472T>G c.3601T>G (p.Ter1201Glu) n.3664T>G c.*1154T>G (n.*1154T>G) n.4415T>G c.*845T>G (n.*845T>G) c.*1911T>G (n.*1911T>G) n.4540T>G c.2737T>G (p.Ter913Glu) c.3496T>G (p.Ter1166Glu) c.*3201T>G (n.*3201T>G) n.3347T>G c.*3279T>G (n.*3279T>G) n.438T>G c.3544T>G (p.Ter1182Glu) c.3808T>G (p.Ter1270Glu) c.3730T>G (p.Ter1244Glu) c.3697T>G (p.Ter1233Glu) c.3706T>G (p.Ter1236Glu) c.2716T>G (p.Ter906Glu) | |
1 | g.154584808A>G | CA342634410 | ADAR | c.3573T>C (n.3573T>C) c.3709T>C (p.Ter1237Gln) c.3562T>C (p.Ter1188Gln) c.3331T>C (p.Ter1111Gln) c.2794T>C (p.Ter932Gln) c.3679T>C (p.Ter1227Gln) n.2472T>C c.3601T>C (p.Ter1201Gln) n.3664T>C c.*1154T>C (n.*1154T>C) n.4415T>C c.*845T>C (n.*845T>C) c.*1911T>C (n.*1911T>C) n.4540T>C c.2737T>C (p.Ter913Gln) c.3496T>C (p.Ter1166Gln) c.*3201T>C (n.*3201T>C) n.3347T>C c.*3279T>C (n.*3279T>C) n.438T>C c.3544T>C (p.Ter1182Gln) c.3808T>C (p.Ter1270Gln) c.3730T>C (p.Ter1244Gln) c.3697T>C (p.Ter1233Gln) c.3706T>C (p.Ter1236Gln) c.2716T>C (p.Ter906Gln) | |
1 | g.154584808A>T | CA342634411 | ADAR | c.3573T>A (n.3573T>A) c.3709T>A (p.Ter1237Lys) c.3562T>A (p.Ter1188Lys) c.3331T>A (p.Ter1111Lys) c.2794T>A (p.Ter932Lys) c.3679T>A (p.Ter1227Lys) n.2472T>A c.3601T>A (p.Ter1201Lys) n.3664T>A c.*1154T>A (n.*1154T>A) n.4415T>A c.*845T>A (n.*845T>A) c.*1911T>A (n.*1911T>A) n.4540T>A c.2737T>A (p.Ter913Lys) c.3496T>A (p.Ter1166Lys) c.*3201T>A (n.*3201T>A) n.3347T>A c.*3279T>A (n.*3279T>A) n.438T>A c.3544T>A (p.Ter1182Lys) c.3808T>A (p.Ter1270Lys) c.3730T>A (p.Ter1244Lys) c.3697T>A (p.Ter1233Lys) c.3706T>A (p.Ter1236Lys) c.2716T>A (p.Ter906Lys) | |
1 | g.154584809T>A | CA421231095 | ADAR | c.3572A>T (n.3572A>T) c.3708A>T (p.Val1236=) c.3561A>T (p.Val1187=) c.3330A>T (p.Val1110=) c.2793A>T (p.Val931=) c.3678A>T (p.Val1226=) n.2471A>T c.3600A>T (p.Val1200=) n.3663A>T c.*1153A>T (n.*1153A>T) n.4414A>T c.*844A>T (n.*844A>T) c.*1910A>T (n.*1910A>T) n.4539A>T c.2736A>T (p.Val912=) c.3495A>T (p.Val1165=) c.*3200A>T (n.*3200A>T) n.3346A>T c.*3278A>T (n.*3278A>T) n.437A>T c.3585A>T (p.Val1195=) c.3543A>T (p.Val1181=) c.3807A>T (p.Val1269=) c.3729A>T (p.Val1243=) c.3696A>T (p.Val1232=) c.3705A>T (p.Val1235=) c.2715A>T (p.Val905=) | |
1 | g.154584809T>C | CA421231098 | ADAR | c.3572A>G (n.3572A>G) c.3708A>G (p.Val1236=) c.3561A>G (p.Val1187=) c.3330A>G (p.Val1110=) c.2793A>G (p.Val931=) c.3678A>G (p.Val1226=) n.2471A>G c.3600A>G (p.Val1200=) n.3663A>G c.*1153A>G (n.*1153A>G) n.4414A>G c.*844A>G (n.*844A>G) c.*1910A>G (n.*1910A>G) n.4539A>G c.2736A>G (p.Val912=) c.3495A>G (p.Val1165=) c.*3200A>G (n.*3200A>G) n.3346A>G c.*3278A>G (n.*3278A>G) n.437A>G c.3585A>G (p.Val1195=) c.3543A>G (p.Val1181=) c.3807A>G (p.Val1269=) c.3729A>G (p.Val1243=) c.3696A>G (p.Val1232=) c.3705A>G (p.Val1235=) c.2715A>G (p.Val905=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584809T>G | CA421231099 | ADAR | c.3572A>C (n.3572A>C) c.3708A>C (p.Val1236=) c.3561A>C (p.Val1187=) c.3330A>C (p.Val1110=) c.2793A>C (p.Val931=) c.3678A>C (p.Val1226=) n.2471A>C c.3600A>C (p.Val1200=) n.3663A>C c.*1153A>C (n.*1153A>C) n.4414A>C c.*844A>C (n.*844A>C) c.*1910A>C (n.*1910A>C) n.4539A>C c.2736A>C (p.Val912=) c.3495A>C (p.Val1165=) c.*3200A>C (n.*3200A>C) n.3346A>C c.*3278A>C (n.*3278A>C) n.437A>C c.3585A>C (p.Val1195=) c.3543A>C (p.Val1181=) c.3807A>C (p.Val1269=) c.3729A>C (p.Val1243=) c.3696A>C (p.Val1232=) c.3705A>C (p.Val1235=) c.2715A>C (p.Val905=) | |
1 | g.154584809T= | CA2480931175 | ADAR | c.3572A= (n.3572A=) c.3708A= (p.Val1236=) c.3561A= (p.Val1187=) c.3330A= (p.Val1110=) c.2793A= (p.Val931=) c.3678A= (p.Val1226=) n.2471A= c.3600A= (p.Val1200=) n.3663A= c.*1153A= (n.*1153A=) n.4414A= c.*844A= (n.*844A=) c.*1910A= (n.*1910A=) n.4539A= c.2736A= (p.Val912=) c.3495A= (p.Val1165=) c.*3200A= (n.*3200A=) n.3346A= c.*3278A= (n.*3278A=) n.437A= c.3585A= (p.Val1195=) c.3543A= (p.Val1181=) c.3807A= (p.Val1269=) c.3729A= (p.Val1243=) c.3696A= (p.Val1232=) c.3705A= (p.Val1235=) c.2715A= (p.Val905=) | |
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 |
1 | g.154584824A>T | CA342634445 | ADAR | c.3557T>A (n.3557T>A) c.3693T>A (p.Phe1231Leu) c.3546T>A (p.Phe1182Leu) c.3315T>A (p.Phe1105Leu) c.2778T>A (p.Phe926Leu) c.3663T>A (p.Phe1221Leu) n.2456T>A c.3585T>A (p.Phe1195Leu) n.3648T>A c.*1138T>A (n.*1138T>A) n.4399T>A c.*829T>A (n.*829T>A) c.*1895T>A (n.*1895T>A) n.4524T>A c.2721T>A (p.Phe907Leu) c.3480T>A (p.Phe1160Leu) c.*3185T>A (n.*3185T>A) n.3331T>A c.*3263T>A (n.*3263T>A) n.422T>A c.3570T>A (p.Phe1190Leu) c.3528T>A (p.Phe1176Leu) c.3792T>A (p.Phe1264Leu) c.3714T>A (p.Phe1238Leu) c.3681T>A (p.Phe1227Leu) c.3690T>A (p.Phe1230Leu) c.2700T>A (p.Phe900Leu) | |
1 | g.154584825A>C | CA342634446 | ADAR | c.3556T>G (n.3556T>G) c.3692T>G (p.Phe1231Cys) c.3545T>G (p.Phe1182Cys) c.3314T>G (p.Phe1105Cys) c.2777T>G (p.Phe926Cys) c.3662T>G (p.Phe1221Cys) n.2455T>G c.3584T>G (p.Phe1195Cys) n.3647T>G c.*1137T>G (n.*1137T>G) n.4398T>G c.*828T>G (n.*828T>G) c.*1894T>G (n.*1894T>G) n.4523T>G c.2720T>G (p.Phe907Cys) c.3479T>G (p.Phe1160Cys) c.*3184T>G (n.*3184T>G) n.3330T>G c.*3262T>G (n.*3262T>G) n.421T>G c.3569T>G (p.Phe1190Cys) c.3527T>G (p.Phe1176Cys) c.3791T>G (p.Phe1264Cys) c.3713T>G (p.Phe1238Cys) c.3680T>G (p.Phe1227Cys) c.3689T>G (p.Phe1230Cys) c.2699T>G (p.Phe900Cys) | |
1 | g.154584825A>G | CA342634447 | ADAR | c.3556T>C (n.3556T>C) c.3692T>C (p.Phe1231Ser) c.3545T>C (p.Phe1182Ser) c.3314T>C (p.Phe1105Ser) c.2777T>C (p.Phe926Ser) c.3662T>C (p.Phe1221Ser) n.2455T>C c.3584T>C (p.Phe1195Ser) n.3647T>C c.*1137T>C (n.*1137T>C) n.4398T>C c.*828T>C (n.*828T>C) c.*1894T>C (n.*1894T>C) n.4523T>C c.2720T>C (p.Phe907Ser) c.3479T>C (p.Phe1160Ser) c.*3184T>C (n.*3184T>C) n.3330T>C c.*3262T>C (n.*3262T>C) n.421T>C c.3569T>C (p.Phe1190Ser) c.3527T>C (p.Phe1176Ser) c.3791T>C (p.Phe1264Ser) c.3713T>C (p.Phe1238Ser) c.3680T>C (p.Phe1227Ser) c.3689T>C (p.Phe1230Ser) c.2699T>C (p.Phe900Ser) | |
1 | g.154584825A>T | CA342634448 | ADAR | c.3556T>A (n.3556T>A) c.3692T>A (p.Phe1231Tyr) c.3545T>A (p.Phe1182Tyr) c.3314T>A (p.Phe1105Tyr) c.2777T>A (p.Phe926Tyr) c.3662T>A (p.Phe1221Tyr) n.2455T>A c.3584T>A (p.Phe1195Tyr) n.3647T>A c.*1137T>A (n.*1137T>A) n.4398T>A c.*828T>A (n.*828T>A) c.*1894T>A (n.*1894T>A) n.4523T>A c.2720T>A (p.Phe907Tyr) c.3479T>A (p.Phe1160Tyr) c.*3184T>A (n.*3184T>A) n.3330T>A c.*3262T>A (n.*3262T>A) n.421T>A c.3569T>A (p.Phe1190Tyr) c.3527T>A (p.Phe1176Tyr) c.3791T>A (p.Phe1264Tyr) c.3713T>A (p.Phe1238Tyr) c.3680T>A (p.Phe1227Tyr) c.3689T>A (p.Phe1230Tyr) c.2699T>A (p.Phe900Tyr) | |
1 | g.154584826A= | CA2480931180 | ADAR | c.3555T= (n.3555T=) c.3691T= (p.Phe1231=) c.3544T= (p.Phe1182=) c.3313T= (p.Phe1105=) c.2776T= (p.Phe926=) c.3661T= (p.Phe1221=) n.2454T= c.3583T= (p.Phe1195=) n.3646T= c.*1136T= (n.*1136T=) n.4397T= c.*827T= (n.*827T=) c.*1893T= (n.*1893T=) n.4522T= c.2719T= (p.Phe907=) c.3478T= (p.Phe1160=) c.*3183T= (n.*3183T=) n.3329T= c.*3261T= (n.*3261T=) n.420T= c.3568T= (p.Phe1190=) c.3526T= (p.Phe1176=) c.3790T= (p.Phe1264=) c.3712T= (p.Phe1238=) c.3679T= (p.Phe1227=) c.3688T= (p.Phe1230=) c.2698T= (p.Phe900=) | |
1 | g.154584826A>C | CA342634449 | ADAR | c.3555T>G (n.3555T>G) c.3691T>G (p.Phe1231Val) c.3544T>G (p.Phe1182Val) c.3313T>G (p.Phe1105Val) c.2776T>G (p.Phe926Val) c.3661T>G (p.Phe1221Val) n.2454T>G c.3583T>G (p.Phe1195Val) n.3646T>G c.*1136T>G (n.*1136T>G) n.4397T>G c.*827T>G (n.*827T>G) c.*1893T>G (n.*1893T>G) n.4522T>G c.2719T>G (p.Phe907Val) c.3478T>G (p.Phe1160Val) c.*3183T>G (n.*3183T>G) n.3329T>G c.*3261T>G (n.*3261T>G) n.420T>G c.3568T>G (p.Phe1190Val) c.3526T>G (p.Phe1176Val) c.3790T>G (p.Phe1264Val) c.3712T>G (p.Phe1238Val) c.3679T>G (p.Phe1227Val) c.3688T>G (p.Phe1230Val) c.2698T>G (p.Phe900Val) | |
1 | g.154584826A>G | CA342634450 | ADAR | c.3555T>C (n.3555T>C) c.3691T>C (p.Phe1231Leu) c.3544T>C (p.Phe1182Leu) c.3313T>C (p.Phe1105Leu) c.2776T>C (p.Phe926Leu) c.3661T>C (p.Phe1221Leu) n.2454T>C c.3583T>C (p.Phe1195Leu) n.3646T>C c.*1136T>C (n.*1136T>C) n.4397T>C c.*827T>C (n.*827T>C) c.*1893T>C (n.*1893T>C) n.4522T>C c.2719T>C (p.Phe907Leu) c.3478T>C (p.Phe1160Leu) c.*3183T>C (n.*3183T>C) n.3329T>C c.*3261T>C (n.*3261T>C) n.420T>C c.3568T>C (p.Phe1190Leu) c.3526T>C (p.Phe1176Leu) c.3790T>C (p.Phe1264Leu) c.3712T>C (p.Phe1238Leu) c.3679T>C (p.Phe1227Leu) c.3688T>C (p.Phe1230Leu) c.2698T>C (p.Phe900Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584826A>T | CA342634451 | ADAR | c.3555T>A (n.3555T>A) c.3691T>A (p.Phe1231Ile) c.3544T>A (p.Phe1182Ile) c.3313T>A (p.Phe1105Ile) c.2776T>A (p.Phe926Ile) c.3661T>A (p.Phe1221Ile) n.2454T>A c.3583T>A (p.Phe1195Ile) n.3646T>A c.*1136T>A (n.*1136T>A) n.4397T>A c.*827T>A (n.*827T>A) c.*1893T>A (n.*1893T>A) n.4522T>A c.2719T>A (p.Phe907Ile) c.3478T>A (p.Phe1160Ile) c.*3183T>A (n.*3183T>A) n.3329T>A c.*3261T>A (n.*3261T>A) n.420T>A c.3568T>A (p.Phe1190Ile) c.3526T>A (p.Phe1176Ile) c.3790T>A (p.Phe1264Ile) c.3712T>A (p.Phe1238Ile) c.3679T>A (p.Phe1227Ile) c.3688T>A (p.Phe1230Ile) c.2698T>A (p.Phe900Ile) | COSMIC COSMIC |
1 | g.154584827G>A | CA421231147 | ADAR | c.3554C>T (n.3554C>T) c.3690C>T (p.Asn1230=) c.3543C>T (p.Asn1181=) c.3312C>T (p.Asn1104=) c.2775C>T (p.Asn925=) c.3660C>T (p.Asn1220=) n.2453C>T c.3582C>T (p.Asn1194=) n.3645C>T c.*1135C>T (n.*1135C>T) n.4396C>T c.*826C>T (n.*826C>T) c.*1892C>T (n.*1892C>T) n.4521C>T c.2718C>T (p.Asn906=) c.3477C>T (p.Asn1159=) c.*3182C>T (n.*3182C>T) n.3328C>T c.*3260C>T (n.*3260C>T) n.419C>T c.3567C>T (p.Asn1189=) c.3525C>T (p.Asn1175=) c.3789C>T (p.Asn1263=) c.3711C>T (p.Asn1237=) c.3678C>T (p.Asn1226=) c.3687C>T (p.Asn1229=) c.2697C>T (p.Asn899=) | gnomAD v4 |
1 | g.154584827G>C | CA342634453 | ADAR | c.3554C>G (n.3554C>G) c.3690C>G (p.Asn1230Lys) c.3543C>G (p.Asn1181Lys) c.3312C>G (p.Asn1104Lys) c.2775C>G (p.Asn925Lys) c.3660C>G (p.Asn1220Lys) n.2453C>G c.3582C>G (p.Asn1194Lys) n.3645C>G c.*1135C>G (n.*1135C>G) n.4396C>G c.*826C>G (n.*826C>G) c.*1892C>G (n.*1892C>G) n.4521C>G c.2718C>G (p.Asn906Lys) c.3477C>G (p.Asn1159Lys) c.*3182C>G (n.*3182C>G) n.3328C>G c.*3260C>G (n.*3260C>G) n.419C>G c.3567C>G (p.Asn1189Lys) c.3525C>G (p.Asn1175Lys) c.3789C>G (p.Asn1263Lys) c.3711C>G (p.Asn1237Lys) c.3678C>G (p.Asn1226Lys) c.3687C>G (p.Asn1229Lys) c.2697C>G (p.Asn899Lys) | |
1 | g.154584827G>T | CA342634452 | ADAR | c.3554C>A (n.3554C>A) c.3690C>A (p.Asn1230Lys) c.3543C>A (p.Asn1181Lys) c.3312C>A (p.Asn1104Lys) c.2775C>A (p.Asn925Lys) c.3660C>A (p.Asn1220Lys) n.2453C>A c.3582C>A (p.Asn1194Lys) n.3645C>A c.*1135C>A (n.*1135C>A) n.4396C>A c.*826C>A (n.*826C>A) c.*1892C>A (n.*1892C>A) n.4521C>A c.2718C>A (p.Asn906Lys) c.3477C>A (p.Asn1159Lys) c.*3182C>A (n.*3182C>A) n.3328C>A c.*3260C>A (n.*3260C>A) n.419C>A c.3567C>A (p.Asn1189Lys) c.3525C>A (p.Asn1175Lys) c.3789C>A (p.Asn1263Lys) c.3711C>A (p.Asn1237Lys) c.3678C>A (p.Asn1226Lys) c.3687C>A (p.Asn1229Lys) c.2697C>A (p.Asn899Lys) | |
1 | g.154584828T>A | CA342634454 | ADAR | c.3553A>T (n.3553A>T) c.3689A>T (p.Asn1230Ile) c.3542A>T (p.Asn1181Ile) c.3311A>T (p.Asn1104Ile) c.2774A>T (p.Asn925Ile) c.3659A>T (p.Asn1220Ile) n.2452A>T c.3581A>T (p.Asn1194Ile) n.3644A>T c.*1134A>T (n.*1134A>T) n.4395A>T c.*825A>T (n.*825A>T) c.*1891A>T (n.*1891A>T) n.4520A>T c.2717A>T (p.Asn906Ile) c.3476A>T (p.Asn1159Ile) c.*3181A>T (n.*3181A>T) n.3327A>T c.*3259A>T (n.*3259A>T) n.418A>T c.3566A>T (p.Asn1189Ile) c.3524A>T (p.Asn1175Ile) c.3788A>T (p.Asn1263Ile) c.3710A>T (p.Asn1237Ile) c.3677A>T (p.Asn1226Ile) c.3686A>T (p.Asn1229Ile) c.2696A>T (p.Asn899Ile) | |
1 | g.154584828T>C | CA342634455 | ADAR | c.3553A>G (n.3553A>G) c.3689A>G (p.Asn1230Ser) c.3542A>G (p.Asn1181Ser) c.3311A>G (p.Asn1104Ser) c.2774A>G (p.Asn925Ser) c.3659A>G (p.Asn1220Ser) n.2452A>G c.3581A>G (p.Asn1194Ser) n.3644A>G c.*1134A>G (n.*1134A>G) n.4395A>G c.*825A>G (n.*825A>G) c.*1891A>G (n.*1891A>G) n.4520A>G c.2717A>G (p.Asn906Ser) c.3476A>G (p.Asn1159Ser) c.*3181A>G (n.*3181A>G) n.3327A>G c.*3259A>G (n.*3259A>G) n.418A>G c.3566A>G (p.Asn1189Ser) c.3524A>G (p.Asn1175Ser) c.3788A>G (p.Asn1263Ser) c.3710A>G (p.Asn1237Ser) c.3677A>G (p.Asn1226Ser) c.3686A>G (p.Asn1229Ser) c.2696A>G (p.Asn899Ser) | |
1 | g.154584828T>G | CA342634456 | ADAR | c.3553A>C (n.3553A>C) c.3689A>C (p.Asn1230Thr) c.3542A>C (p.Asn1181Thr) c.3311A>C (p.Asn1104Thr) c.2774A>C (p.Asn925Thr) c.3659A>C (p.Asn1220Thr) n.2452A>C c.3581A>C (p.Asn1194Thr) n.3644A>C c.*1134A>C (n.*1134A>C) n.4395A>C c.*825A>C (n.*825A>C) c.*1891A>C (n.*1891A>C) n.4520A>C c.2717A>C (p.Asn906Thr) c.3476A>C (p.Asn1159Thr) c.*3181A>C (n.*3181A>C) n.3327A>C c.*3259A>C (n.*3259A>C) n.418A>C c.3566A>C (p.Asn1189Thr) c.3524A>C (p.Asn1175Thr) c.3788A>C (p.Asn1263Thr) c.3710A>C (p.Asn1237Thr) c.3677A>C (p.Asn1226Thr) c.3686A>C (p.Asn1229Thr) c.2696A>C (p.Asn899Thr) | |
1 | g.154584829T>A | CA342634457 | ADAR | c.3552A>T (n.3552A>T) c.3688A>T (p.Asn1230Tyr) c.3541A>T (p.Asn1181Tyr) c.3310A>T (p.Asn1104Tyr) c.2773A>T (p.Asn925Tyr) c.3658A>T (p.Asn1220Tyr) n.2451A>T c.3580A>T (p.Asn1194Tyr) n.3643A>T c.*1133A>T (n.*1133A>T) n.4394A>T c.*824A>T (n.*824A>T) c.*1890A>T (n.*1890A>T) n.4519A>T c.2716A>T (p.Asn906Tyr) c.3475A>T (p.Asn1159Tyr) c.*3180A>T (n.*3180A>T) n.3326A>T c.*3258A>T (n.*3258A>T) n.417A>T c.3565A>T (p.Asn1189Tyr) c.3523A>T (p.Asn1175Tyr) c.3787A>T (p.Asn1263Tyr) c.3709A>T (p.Asn1237Tyr) c.3676A>T (p.Asn1226Tyr) c.3685A>T (p.Asn1229Tyr) c.2695A>T (p.Asn899Tyr) | |
1 | g.154584829T>C | CA342634458 | ADAR | c.3552A>G (n.3552A>G) c.3688A>G (p.Asn1230Asp) c.3541A>G (p.Asn1181Asp) c.3310A>G (p.Asn1104Asp) c.2773A>G (p.Asn925Asp) c.3658A>G (p.Asn1220Asp) n.2451A>G c.3580A>G (p.Asn1194Asp) n.3643A>G c.*1133A>G (n.*1133A>G) n.4394A>G c.*824A>G (n.*824A>G) c.*1890A>G (n.*1890A>G) n.4519A>G c.2716A>G (p.Asn906Asp) c.3475A>G (p.Asn1159Asp) c.*3180A>G (n.*3180A>G) n.3326A>G c.*3258A>G (n.*3258A>G) n.417A>G c.3565A>G (p.Asn1189Asp) c.3523A>G (p.Asn1175Asp) c.3787A>G (p.Asn1263Asp) c.3709A>G (p.Asn1237Asp) c.3676A>G (p.Asn1226Asp) c.3685A>G (p.Asn1229Asp) c.2695A>G (p.Asn899Asp) | |
1 | g.154584829T>G | CA342634459 | ADAR | c.3552A>C (n.3552A>C) c.3688A>C (p.Asn1230His) c.3541A>C (p.Asn1181His) c.3310A>C (p.Asn1104His) c.2773A>C (p.Asn925His) c.3658A>C (p.Asn1220His) n.2451A>C c.3580A>C (p.Asn1194His) n.3643A>C c.*1133A>C (n.*1133A>C) n.4394A>C c.*824A>C (n.*824A>C) c.*1890A>C (n.*1890A>C) n.4519A>C c.2716A>C (p.Asn906His) c.3475A>C (p.Asn1159His) c.*3180A>C (n.*3180A>C) n.3326A>C c.*3258A>C (n.*3258A>C) n.417A>C c.3565A>C (p.Asn1189His) c.3523A>C (p.Asn1175His) c.3787A>C (p.Asn1263His) c.3709A>C (p.Asn1237His) c.3676A>C (p.Asn1226His) c.3685A>C (p.Asn1229His) c.2695A>C (p.Asn899His) | |
1 | g.154584830C>A | CA342634460 | ADAR | c.3551G>T (n.3551G>T) c.3687G>T (p.Lys1229Asn) c.3540G>T (p.Lys1180Asn) c.3309G>T (p.Lys1103Asn) c.2772G>T (p.Lys924Asn) c.3657G>T (p.Lys1219Asn) n.2450G>T c.3579G>T (p.Lys1193Asn) n.3642G>T c.*1132G>T (n.*1132G>T) n.4393G>T c.*823G>T (n.*823G>T) c.*1889G>T (n.*1889G>T) n.4518G>T c.2715G>T (p.Lys905Asn) c.3474G>T (p.Lys1158Asn) c.*3179G>T (n.*3179G>T) n.3325G>T c.*3257G>T (n.*3257G>T) n.416G>T c.3564G>T (p.Lys1188Asn) c.3522G>T (p.Lys1174Asn) c.3786G>T (p.Lys1262Asn) c.3708G>T (p.Lys1236Asn) c.3675G>T (p.Lys1225Asn) c.3684G>T (p.Lys1228Asn) c.2694G>T (p.Lys898Asn) | ClinVar dbSNP |
1 | g.154584830C>G | CA342634461 | ADAR | c.3551G>C (n.3551G>C) c.3687G>C (p.Lys1229Asn) c.3540G>C (p.Lys1180Asn) c.3309G>C (p.Lys1103Asn) c.2772G>C (p.Lys924Asn) c.3657G>C (p.Lys1219Asn) n.2450G>C c.3579G>C (p.Lys1193Asn) n.3642G>C c.*1132G>C (n.*1132G>C) n.4393G>C c.*823G>C (n.*823G>C) c.*1889G>C (n.*1889G>C) n.4518G>C c.2715G>C (p.Lys905Asn) c.3474G>C (p.Lys1158Asn) c.*3179G>C (n.*3179G>C) n.3325G>C c.*3257G>C (n.*3257G>C) n.416G>C c.3564G>C (p.Lys1188Asn) c.3522G>C (p.Lys1174Asn) c.3786G>C (p.Lys1262Asn) c.3708G>C (p.Lys1236Asn) c.3675G>C (p.Lys1225Asn) c.3684G>C (p.Lys1228Asn) c.2694G>C (p.Lys898Asn) | |
1 | g.154584830C>T | CA421231154 | ADAR | c.3551G>A (n.3551G>A) c.3687G>A (p.Lys1229=) c.3540G>A (p.Lys1180=) c.3309G>A (p.Lys1103=) c.2772G>A (p.Lys924=) c.3657G>A (p.Lys1219=) n.2450G>A c.3579G>A (p.Lys1193=) n.3642G>A c.*1132G>A (n.*1132G>A) n.4393G>A c.*823G>A (n.*823G>A) c.*1889G>A (n.*1889G>A) n.4518G>A c.2715G>A (p.Lys905=) c.3474G>A (p.Lys1158=) c.*3179G>A (n.*3179G>A) n.3325G>A c.*3257G>A (n.*3257G>A) n.416G>A c.3564G>A (p.Lys1188=) c.3522G>A (p.Lys1174=) c.3786G>A (p.Lys1262=) c.3708G>A (p.Lys1236=) c.3675G>A (p.Lys1225=) c.3684G>A (p.Lys1228=) c.2694G>A (p.Lys898=) | |
1 | g.154584831T>A | CA342634462 | ADAR | c.3550A>T (n.3550A>T) c.3686A>T (p.Lys1229Met) c.3539A>T (p.Lys1180Met) c.3308A>T (p.Lys1103Met) c.2771A>T (p.Lys924Met) c.3656A>T (p.Lys1219Met) n.2449A>T c.3578A>T (p.Lys1193Met) n.3641A>T c.*1131A>T (n.*1131A>T) n.4392A>T c.*822A>T (n.*822A>T) c.*1888A>T (n.*1888A>T) n.4517A>T c.2714A>T (p.Lys905Met) c.3473A>T (p.Lys1158Met) c.*3178A>T (n.*3178A>T) n.3324A>T c.*3256A>T (n.*3256A>T) n.415A>T c.3563A>T (p.Lys1188Met) c.3521A>T (p.Lys1174Met) c.3785A>T (p.Lys1262Met) c.3707A>T (p.Lys1236Met) c.3674A>T (p.Lys1225Met) c.3683A>T (p.Lys1228Met) c.2693A>T (p.Lys898Met) | |
1 | g.154584831T>C | CA342634463 | ADAR | c.3550A>G (n.3550A>G) c.3686A>G (p.Lys1229Arg) c.3539A>G (p.Lys1180Arg) c.3308A>G (p.Lys1103Arg) c.2771A>G (p.Lys924Arg) c.3656A>G (p.Lys1219Arg) n.2449A>G c.3578A>G (p.Lys1193Arg) n.3641A>G c.*1131A>G (n.*1131A>G) n.4392A>G c.*822A>G (n.*822A>G) c.*1888A>G (n.*1888A>G) n.4517A>G c.2714A>G (p.Lys905Arg) c.3473A>G (p.Lys1158Arg) c.*3178A>G (n.*3178A>G) n.3324A>G c.*3256A>G (n.*3256A>G) n.415A>G c.3563A>G (p.Lys1188Arg) c.3521A>G (p.Lys1174Arg) c.3785A>G (p.Lys1262Arg) c.3707A>G (p.Lys1236Arg) c.3674A>G (p.Lys1225Arg) c.3683A>G (p.Lys1228Arg) c.2693A>G (p.Lys898Arg) | |
1 | g.154584831T>G | CA342634464 | ADAR | c.3550A>C (n.3550A>C) c.3686A>C (p.Lys1229Thr) c.3539A>C (p.Lys1180Thr) c.3308A>C (p.Lys1103Thr) c.2771A>C (p.Lys924Thr) c.3656A>C (p.Lys1219Thr) n.2449A>C c.3578A>C (p.Lys1193Thr) n.3641A>C c.*1131A>C (n.*1131A>C) n.4392A>C c.*822A>C (n.*822A>C) c.*1888A>C (n.*1888A>C) n.4517A>C c.2714A>C (p.Lys905Thr) c.3473A>C (p.Lys1158Thr) c.*3178A>C (n.*3178A>C) n.3324A>C c.*3256A>C (n.*3256A>C) n.415A>C c.3563A>C (p.Lys1188Thr) c.3521A>C (p.Lys1174Thr) c.3785A>C (p.Lys1262Thr) c.3707A>C (p.Lys1236Thr) c.3674A>C (p.Lys1225Thr) c.3683A>C (p.Lys1228Thr) c.2693A>C (p.Lys898Thr) | |
1 | g.154584832T>A | CA342634466 | ADAR | c.3549A>T (n.3549A>T) c.3685A>T (p.Lys1229Ter) c.3538A>T (p.Lys1180Ter) c.3307A>T (p.Lys1103Ter) c.2770A>T (p.Lys924Ter) c.3655A>T (p.Lys1219Ter) n.2448A>T c.3577A>T (p.Lys1193Ter) n.3640A>T c.*1130A>T (n.*1130A>T) n.4391A>T c.*821A>T (n.*821A>T) c.*1887A>T (n.*1887A>T) n.4516A>T c.2713A>T (p.Lys905Ter) c.3472A>T (p.Lys1158Ter) c.*3177A>T (n.*3177A>T) n.3323A>T c.*3255A>T (n.*3255A>T) n.414A>T c.3562A>T (p.Lys1188Ter) c.3520A>T (p.Lys1174Ter) c.3784A>T (p.Lys1262Ter) c.3706A>T (p.Lys1236Ter) c.3673A>T (p.Lys1225Ter) c.3682A>T (p.Lys1228Ter) c.2692A>T (p.Lys898Ter) | |
1 | g.154584832T>C | CA342634467 | ADAR | c.3549A>G (n.3549A>G) c.3685A>G (p.Lys1229Glu) c.3538A>G (p.Lys1180Glu) c.3307A>G (p.Lys1103Glu) c.2770A>G (p.Lys924Glu) c.3655A>G (p.Lys1219Glu) n.2448A>G c.3577A>G (p.Lys1193Glu) n.3640A>G c.*1130A>G (n.*1130A>G) n.4391A>G c.*821A>G (n.*821A>G) c.*1887A>G (n.*1887A>G) n.4516A>G c.2713A>G (p.Lys905Glu) c.3472A>G (p.Lys1158Glu) c.*3177A>G (n.*3177A>G) n.3323A>G c.*3255A>G (n.*3255A>G) n.414A>G c.3562A>G (p.Lys1188Glu) c.3520A>G (p.Lys1174Glu) c.3784A>G (p.Lys1262Glu) c.3706A>G (p.Lys1236Glu) c.3673A>G (p.Lys1225Glu) c.3682A>G (p.Lys1228Glu) c.2692A>G (p.Lys898Glu) | |
1 | g.154584832T>G | CA342634465 | ADAR | c.3549A>C (n.3549A>C) c.3685A>C (p.Lys1229Gln) c.3538A>C (p.Lys1180Gln) c.3307A>C (p.Lys1103Gln) c.2770A>C (p.Lys924Gln) c.3655A>C (p.Lys1219Gln) n.2448A>C c.3577A>C (p.Lys1193Gln) n.3640A>C c.*1130A>C (n.*1130A>C) n.4391A>C c.*821A>C (n.*821A>C) c.*1887A>C (n.*1887A>C) n.4516A>C c.2713A>C (p.Lys905Gln) c.3472A>C (p.Lys1158Gln) c.*3177A>C (n.*3177A>C) n.3323A>C c.*3255A>C (n.*3255A>C) n.414A>C c.3562A>C (p.Lys1188Gln) c.3520A>C (p.Lys1174Gln) c.3784A>C (p.Lys1262Gln) c.3706A>C (p.Lys1236Gln) c.3673A>C (p.Lys1225Gln) c.3682A>C (p.Lys1228Gln) c.2692A>C (p.Lys898Gln) | |
1 | g.154584833T>A | CA342634468 | ADAR | c.3548A>T (n.3548A>T) c.3684A>T (p.Glu1228Asp) c.3537A>T (p.Glu1179Asp) c.3306A>T (p.Glu1102Asp) c.2769A>T (p.Glu923Asp) c.3654A>T (p.Glu1218Asp) n.2447A>T c.3576A>T (p.Glu1192Asp) n.3639A>T c.*1129A>T (n.*1129A>T) n.4390A>T c.*820A>T (n.*820A>T) c.*1886A>T (n.*1886A>T) n.4515A>T c.2712A>T (p.Glu904Asp) c.3471A>T (p.Glu1157Asp) c.*3176A>T (n.*3176A>T) n.3322A>T c.*3254A>T (n.*3254A>T) n.413A>T c.3561A>T (p.Glu1187Asp) c.3519A>T (p.Glu1173Asp) c.3783A>T (p.Glu1261Asp) c.3705A>T (p.Glu1235Asp) c.3672A>T (p.Glu1224Asp) c.3681A>T (p.Glu1227Asp) c.2691A>T (p.Glu897Asp) | |
1 | g.154584833T>C | CA1130916 | ADAR | c.3548A>G (n.3548A>G) c.3684A>G (p.Glu1228=) c.3537A>G (p.Glu1179=) c.3306A>G (p.Glu1102=) c.2769A>G (p.Glu923=) c.3654A>G (p.Glu1218=) n.2447A>G c.3576A>G (p.Glu1192=) n.3639A>G c.*1129A>G (n.*1129A>G) n.4390A>G c.*820A>G (n.*820A>G) c.*1886A>G (n.*1886A>G) n.4515A>G c.2712A>G (p.Glu904=) c.3471A>G (p.Glu1157=) c.*3176A>G (n.*3176A>G) n.3322A>G c.*3254A>G (n.*3254A>G) n.413A>G c.3561A>G (p.Glu1187=) c.3519A>G (p.Glu1173=) c.3783A>G (p.Glu1261=) c.3705A>G (p.Glu1235=) c.3672A>G (p.Glu1224=) c.3681A>G (p.Glu1227=) c.2691A>G (p.Glu897=) | dbSNP ExAC gnomAD v2 |
1 | g.154584833T>G | CA342634469 | ADAR | c.3548A>C (n.3548A>C) c.3684A>C (p.Glu1228Asp) c.3537A>C (p.Glu1179Asp) c.3306A>C (p.Glu1102Asp) c.2769A>C (p.Glu923Asp) c.3654A>C (p.Glu1218Asp) n.2447A>C c.3576A>C (p.Glu1192Asp) n.3639A>C c.*1129A>C (n.*1129A>C) n.4390A>C c.*820A>C (n.*820A>C) c.*1886A>C (n.*1886A>C) n.4515A>C c.2712A>C (p.Glu904Asp) c.3471A>C (p.Glu1157Asp) c.*3176A>C (n.*3176A>C) n.3322A>C c.*3254A>C (n.*3254A>C) n.413A>C c.3561A>C (p.Glu1187Asp) c.3519A>C (p.Glu1173Asp) c.3783A>C (p.Glu1261Asp) c.3705A>C (p.Glu1235Asp) c.3672A>C (p.Glu1224Asp) c.3681A>C (p.Glu1227Asp) c.2691A>C (p.Glu897Asp) | |
1 | g.154584833T= | CA1143948707 | ADAR | c.3548A= (n.3548A=) c.3684A= (p.Glu1228=) c.3537A= (p.Glu1179=) c.3306A= (p.Glu1102=) c.2769A= (p.Glu923=) c.3654A= (p.Glu1218=) n.2447A= c.3576A= (p.Glu1192=) n.3639A= c.*1129A= (n.*1129A=) n.4390A= c.*820A= (n.*820A=) c.*1886A= (n.*1886A=) n.4515A= c.2712A= (p.Glu904=) c.3471A= (p.Glu1157=) c.*3176A= (n.*3176A=) n.3322A= c.*3254A= (n.*3254A=) n.413A= c.3561A= (p.Glu1187=) c.3519A= (p.Glu1173=) c.3783A= (p.Glu1261=) c.3705A= (p.Glu1235=) c.3672A= (p.Glu1224=) c.3681A= (p.Glu1227=) c.2691A= (p.Glu897=) | |
1 | g.154584834T>A | CA342634470 | ADAR | c.3547A>T (n.3547A>T) c.3683A>T (p.Glu1228Val) c.3536A>T (p.Glu1179Val) c.3305A>T (p.Glu1102Val) c.2768A>T (p.Glu923Val) c.3653A>T (p.Glu1218Val) n.2446A>T c.3575A>T (p.Glu1192Val) n.3638A>T c.*1128A>T (n.*1128A>T) n.4389A>T c.*819A>T (n.*819A>T) c.*1885A>T (n.*1885A>T) n.4514A>T c.2711A>T (p.Glu904Val) c.3470A>T (p.Glu1157Val) c.*3175A>T (n.*3175A>T) n.3321A>T c.*3253A>T (n.*3253A>T) n.412A>T c.3560A>T (p.Glu1187Val) c.3518A>T (p.Glu1173Val) c.3782A>T (p.Glu1261Val) c.3704A>T (p.Glu1235Val) c.3671A>T (p.Glu1224Val) c.3680A>T (p.Glu1227Val) c.2690A>T (p.Glu897Val) | |
1 | g.154584834T>C | CA342634471 | ADAR | c.3547A>G (n.3547A>G) c.3683A>G (p.Glu1228Gly) c.3536A>G (p.Glu1179Gly) c.3305A>G (p.Glu1102Gly) c.2768A>G (p.Glu923Gly) c.3653A>G (p.Glu1218Gly) n.2446A>G c.3575A>G (p.Glu1192Gly) n.3638A>G c.*1128A>G (n.*1128A>G) n.4389A>G c.*819A>G (n.*819A>G) c.*1885A>G (n.*1885A>G) n.4514A>G c.2711A>G (p.Glu904Gly) c.3470A>G (p.Glu1157Gly) c.*3175A>G (n.*3175A>G) n.3321A>G c.*3253A>G (n.*3253A>G) n.412A>G c.3560A>G (p.Glu1187Gly) c.3518A>G (p.Glu1173Gly) c.3782A>G (p.Glu1261Gly) c.3704A>G (p.Glu1235Gly) c.3671A>G (p.Glu1224Gly) c.3680A>G (p.Glu1227Gly) c.2690A>G (p.Glu897Gly) | |
1 | g.154584834T>G | CA342634472 | ADAR | c.3547A>C (n.3547A>C) c.3683A>C (p.Glu1228Ala) c.3536A>C (p.Glu1179Ala) c.3305A>C (p.Glu1102Ala) c.2768A>C (p.Glu923Ala) c.3653A>C (p.Glu1218Ala) n.2446A>C c.3575A>C (p.Glu1192Ala) n.3638A>C c.*1128A>C (n.*1128A>C) n.4389A>C c.*819A>C (n.*819A>C) c.*1885A>C (n.*1885A>C) n.4514A>C c.2711A>C (p.Glu904Ala) c.3470A>C (p.Glu1157Ala) c.*3175A>C (n.*3175A>C) n.3321A>C c.*3253A>C (n.*3253A>C) n.412A>C c.3560A>C (p.Glu1187Ala) c.3518A>C (p.Glu1173Ala) c.3782A>C (p.Glu1261Ala) c.3704A>C (p.Glu1235Ala) c.3671A>C (p.Glu1224Ala) c.3680A>C (p.Glu1227Ala) c.2690A>C (p.Glu897Ala) | |
1 | g.154584835C>A | CA342634475 | ADAR | c.3546G>T (n.3546G>T) c.3682G>T (p.Glu1228Ter) c.3535G>T (p.Glu1179Ter) c.3304G>T (p.Glu1102Ter) c.2767G>T (p.Glu923Ter) c.3652G>T (p.Glu1218Ter) n.2445G>T c.3574G>T (p.Glu1192Ter) n.3637G>T c.*1127G>T (n.*1127G>T) n.4388G>T c.*818G>T (n.*818G>T) c.*1884G>T (n.*1884G>T) n.4513G>T c.2710G>T (p.Glu904Ter) c.3469G>T (p.Glu1157Ter) c.*3174G>T (n.*3174G>T) n.3320G>T c.*3252G>T (n.*3252G>T) n.411G>T c.3559G>T (p.Glu1187Ter) c.3517G>T (p.Glu1173Ter) c.3781G>T (p.Glu1261Ter) c.3703G>T (p.Glu1235Ter) c.3670G>T (p.Glu1224Ter) c.3679G>T (p.Glu1227Ter) c.2689G>T (p.Glu897Ter) | |
1 | g.154584835C>G | CA342634473 | ADAR | c.3546G>C (n.3546G>C) c.3682G>C (p.Glu1228Gln) c.3535G>C (p.Glu1179Gln) c.3304G>C (p.Glu1102Gln) c.2767G>C (p.Glu923Gln) c.3652G>C (p.Glu1218Gln) n.2445G>C c.3574G>C (p.Glu1192Gln) n.3637G>C c.*1127G>C (n.*1127G>C) n.4388G>C c.*818G>C (n.*818G>C) c.*1884G>C (n.*1884G>C) n.4513G>C c.2710G>C (p.Glu904Gln) c.3469G>C (p.Glu1157Gln) c.*3174G>C (n.*3174G>C) n.3320G>C c.*3252G>C (n.*3252G>C) n.411G>C c.3559G>C (p.Glu1187Gln) c.3517G>C (p.Glu1173Gln) c.3781G>C (p.Glu1261Gln) c.3703G>C (p.Glu1235Gln) c.3670G>C (p.Glu1224Gln) c.3679G>C (p.Glu1227Gln) c.2689G>C (p.Glu897Gln) | |
1 | g.154584835C>T | CA342634474 | ADAR | c.3546G>A (n.3546G>A) c.3682G>A (p.Glu1228Lys) c.3535G>A (p.Glu1179Lys) c.3304G>A (p.Glu1102Lys) c.2767G>A (p.Glu923Lys) c.3652G>A (p.Glu1218Lys) n.2445G>A c.3574G>A (p.Glu1192Lys) n.3637G>A c.*1127G>A (n.*1127G>A) n.4388G>A c.*818G>A (n.*818G>A) c.*1884G>A (n.*1884G>A) n.4513G>A c.2710G>A (p.Glu904Lys) c.3469G>A (p.Glu1157Lys) c.*3174G>A (n.*3174G>A) n.3320G>A c.*3252G>A (n.*3252G>A) n.411G>A c.3559G>A (p.Glu1187Lys) c.3517G>A (p.Glu1173Lys) c.3781G>A (p.Glu1261Lys) c.3703G>A (p.Glu1235Lys) c.3670G>A (p.Glu1224Lys) c.3679G>A (p.Glu1227Lys) c.2689G>A (p.Glu897Lys) | |
1 | g.154584836C>A | CA342634476 | ADAR | c.3545G>T (n.3545G>T) c.3681G>T (p.Glu1227Asp) c.3534G>T (p.Glu1178Asp) c.3303G>T (p.Glu1101Asp) c.2766G>T (p.Glu922Asp) c.3651G>T (p.Glu1217Asp) n.2444G>T c.3573G>T (p.Glu1191Asp) n.3636G>T c.*1126G>T (n.*1126G>T) n.4387G>T c.*817G>T (n.*817G>T) c.*1883G>T (n.*1883G>T) n.4512G>T c.2709G>T (p.Glu903Asp) c.3468G>T (p.Glu1156Asp) c.*3173G>T (n.*3173G>T) n.3319G>T c.*3251G>T (n.*3251G>T) n.410G>T c.3558G>T (p.Glu1186Asp) c.3516G>T (p.Glu1172Asp) c.3780G>T (p.Glu1260Asp) c.3702G>T (p.Glu1234Asp) c.3669G>T (p.Glu1223Asp) c.3678G>T (p.Glu1226Asp) c.2688G>T (p.Glu896Asp) | |
1 | g.154584836C= | CA2480931181 | ADAR | c.3545G= (n.3545G=) c.3681G= (p.Glu1227=) c.3534G= (p.Glu1178=) c.3303G= (p.Glu1101=) c.2766G= (p.Glu922=) c.3651G= (p.Glu1217=) n.2444G= c.3573G= (p.Glu1191=) n.3636G= c.*1126G= (n.*1126G=) n.4387G= c.*817G= (n.*817G=) c.*1883G= (n.*1883G=) n.4512G= c.2709G= (p.Glu903=) c.3468G= (p.Glu1156=) c.*3173G= (n.*3173G=) n.3319G= c.*3251G= (n.*3251G=) n.410G= c.3558G= (p.Glu1186=) c.3516G= (p.Glu1172=) c.3780G= (p.Glu1260=) c.3702G= (p.Glu1234=) c.3669G= (p.Glu1223=) c.3678G= (p.Glu1226=) c.2688G= (p.Glu896=) | |
1 | g.154584836C>G | CA342634477 | ADAR | c.3545G>C (n.3545G>C) c.3681G>C (p.Glu1227Asp) c.3534G>C (p.Glu1178Asp) c.3303G>C (p.Glu1101Asp) c.2766G>C (p.Glu922Asp) c.3651G>C (p.Glu1217Asp) n.2444G>C c.3573G>C (p.Glu1191Asp) n.3636G>C c.*1126G>C (n.*1126G>C) n.4387G>C c.*817G>C (n.*817G>C) c.*1883G>C (n.*1883G>C) n.4512G>C c.2709G>C (p.Glu903Asp) c.3468G>C (p.Glu1156Asp) c.*3173G>C (n.*3173G>C) n.3319G>C c.*3251G>C (n.*3251G>C) n.410G>C c.3558G>C (p.Glu1186Asp) c.3516G>C (p.Glu1172Asp) c.3780G>C (p.Glu1260Asp) c.3702G>C (p.Glu1234Asp) c.3669G>C (p.Glu1223Asp) c.3678G>C (p.Glu1226Asp) c.2688G>C (p.Glu896Asp) | |
1 | g.154584836C>T | CA421231316 | ADAR | c.3545G>A (n.3545G>A) c.3681G>A (p.Glu1227=) c.3534G>A (p.Glu1178=) c.3303G>A (p.Glu1101=) c.2766G>A (p.Glu922=) c.3651G>A (p.Glu1217=) n.2444G>A c.3573G>A (p.Glu1191=) n.3636G>A c.*1126G>A (n.*1126G>A) n.4387G>A c.*817G>A (n.*817G>A) c.*1883G>A (n.*1883G>A) n.4512G>A c.2709G>A (p.Glu903=) c.3468G>A (p.Glu1156=) c.*3173G>A (n.*3173G>A) n.3319G>A c.*3251G>A (n.*3251G>A) n.410G>A c.3558G>A (p.Glu1186=) c.3516G>A (p.Glu1172=) c.3780G>A (p.Glu1260=) c.3702G>A (p.Glu1234=) c.3669G>A (p.Glu1223=) c.3678G>A (p.Glu1226=) c.2688G>A (p.Glu896=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584837T>A | CA342634478 | ADAR | c.3544A>T (n.3544A>T) c.3680A>T (p.Glu1227Val) c.3533A>T (p.Glu1178Val) c.3302A>T (p.Glu1101Val) c.2765A>T (p.Glu922Val) c.3650A>T (p.Glu1217Val) n.2443A>T c.3572A>T (p.Glu1191Val) n.3635A>T c.*1125A>T (n.*1125A>T) n.4386A>T c.*816A>T (n.*816A>T) c.*1882A>T (n.*1882A>T) n.4511A>T c.2708A>T (p.Glu903Val) c.3467A>T (p.Glu1156Val) c.*3172A>T (n.*3172A>T) n.3318A>T c.*3250A>T (n.*3250A>T) n.409A>T c.3557A>T (p.Glu1186Val) c.3515A>T (p.Glu1172Val) c.3779A>T (p.Glu1260Val) c.3701A>T (p.Glu1234Val) c.3668A>T (p.Glu1223Val) c.3677A>T (p.Glu1226Val) c.2687A>T (p.Glu896Val) | |
1 | g.154584837T>C | CA342634479 | ADAR | c.3544A>G (n.3544A>G) c.3680A>G (p.Glu1227Gly) c.3533A>G (p.Glu1178Gly) c.3302A>G (p.Glu1101Gly) c.2765A>G (p.Glu922Gly) c.3650A>G (p.Glu1217Gly) n.2443A>G c.3572A>G (p.Glu1191Gly) n.3635A>G c.*1125A>G (n.*1125A>G) n.4386A>G c.*816A>G (n.*816A>G) c.*1882A>G (n.*1882A>G) n.4511A>G c.2708A>G (p.Glu903Gly) c.3467A>G (p.Glu1156Gly) c.*3172A>G (n.*3172A>G) n.3318A>G c.*3250A>G (n.*3250A>G) n.409A>G c.3557A>G (p.Glu1186Gly) c.3515A>G (p.Glu1172Gly) c.3779A>G (p.Glu1260Gly) c.3701A>G (p.Glu1234Gly) c.3668A>G (p.Glu1223Gly) c.3677A>G (p.Glu1226Gly) c.2687A>G (p.Glu896Gly) | |
1 | g.154584837T>G | CA342634480 | ADAR | c.3544A>C (n.3544A>C) c.3680A>C (p.Glu1227Ala) c.3533A>C (p.Glu1178Ala) c.3302A>C (p.Glu1101Ala) c.2765A>C (p.Glu922Ala) c.3650A>C (p.Glu1217Ala) n.2443A>C c.3572A>C (p.Glu1191Ala) n.3635A>C c.*1125A>C (n.*1125A>C) n.4386A>C c.*816A>C (n.*816A>C) c.*1882A>C (n.*1882A>C) n.4511A>C c.2708A>C (p.Glu903Ala) c.3467A>C (p.Glu1156Ala) c.*3172A>C (n.*3172A>C) n.3318A>C c.*3250A>C (n.*3250A>C) n.409A>C c.3557A>C (p.Glu1186Ala) c.3515A>C (p.Glu1172Ala) c.3779A>C (p.Glu1260Ala) c.3701A>C (p.Glu1234Ala) c.3668A>C (p.Glu1223Ala) c.3677A>C (p.Glu1226Ala) c.2687A>C (p.Glu896Ala) | |
1 | g.154584838C>A | CA342634481 | ADAR | c.3543G>T (n.3543G>T) c.3679G>T (p.Glu1227Ter) c.3532G>T (p.Glu1178Ter) c.3301G>T (p.Glu1101Ter) c.2764G>T (p.Glu922Ter) c.3649G>T (p.Glu1217Ter) n.2442G>T c.3571G>T (p.Glu1191Ter) n.3634G>T c.*1124G>T (n.*1124G>T) n.4385G>T c.*815G>T (n.*815G>T) c.*1881G>T (n.*1881G>T) n.4510G>T c.2707G>T (p.Glu903Ter) c.3466G>T (p.Glu1156Ter) c.*3171G>T (n.*3171G>T) n.3317G>T c.*3249G>T (n.*3249G>T) n.408G>T c.3556G>T (p.Glu1186Ter) c.3514G>T (p.Glu1172Ter) c.3778G>T (p.Glu1260Ter) c.3700G>T (p.Glu1234Ter) c.3667G>T (p.Glu1223Ter) c.3676G>T (p.Glu1226Ter) c.2686G>T (p.Glu896Ter) | |
1 | g.154584838C>G | CA342634483 | ADAR | c.3543G>C (n.3543G>C) c.3679G>C (p.Glu1227Gln) c.3532G>C (p.Glu1178Gln) c.3301G>C (p.Glu1101Gln) c.2764G>C (p.Glu922Gln) c.3649G>C (p.Glu1217Gln) n.2442G>C c.3571G>C (p.Glu1191Gln) n.3634G>C c.*1124G>C (n.*1124G>C) n.4385G>C c.*815G>C (n.*815G>C) c.*1881G>C (n.*1881G>C) n.4510G>C c.2707G>C (p.Glu903Gln) c.3466G>C (p.Glu1156Gln) c.*3171G>C (n.*3171G>C) n.3317G>C c.*3249G>C (n.*3249G>C) n.408G>C c.3556G>C (p.Glu1186Gln) c.3514G>C (p.Glu1172Gln) c.3778G>C (p.Glu1260Gln) c.3700G>C (p.Glu1234Gln) c.3667G>C (p.Glu1223Gln) c.3676G>C (p.Glu1226Gln) c.2686G>C (p.Glu896Gln) | |
1 | g.154584838C>T | CA342634482 | ADAR | c.3543G>A (n.3543G>A) c.3679G>A (p.Glu1227Lys) c.3532G>A (p.Glu1178Lys) c.3301G>A (p.Glu1101Lys) c.2764G>A (p.Glu922Lys) c.3649G>A (p.Glu1217Lys) n.2442G>A c.3571G>A (p.Glu1191Lys) n.3634G>A c.*1124G>A (n.*1124G>A) n.4385G>A c.*815G>A (n.*815G>A) c.*1881G>A (n.*1881G>A) n.4510G>A c.2707G>A (p.Glu903Lys) c.3466G>A (p.Glu1156Lys) c.*3171G>A (n.*3171G>A) n.3317G>A c.*3249G>A (n.*3249G>A) n.408G>A c.3556G>A (p.Glu1186Lys) c.3514G>A (p.Glu1172Lys) c.3778G>A (p.Glu1260Lys) c.3700G>A (p.Glu1234Lys) c.3667G>A (p.Glu1223Lys) c.3676G>A (p.Glu1226Lys) c.2686G>A (p.Glu896Lys) | |
1 | g.154584839C>A | CA342634484 | ADAR | c.3542G>T (n.3542G>T) c.3678G>T (p.Gln1226His) c.3531G>T (p.Gln1177His) c.3300G>T (p.Gln1100His) c.2763G>T (p.Gln921His) c.3648G>T (p.Gln1216His) n.2441G>T c.3570G>T (p.Gln1190His) n.3633G>T c.*1123G>T (n.*1123G>T) n.4384G>T c.*814G>T (n.*814G>T) c.*1880G>T (n.*1880G>T) n.4509G>T c.2706G>T (p.Gln902His) c.3465G>T (p.Gln1155His) c.*3170G>T (n.*3170G>T) n.3316G>T c.*3248G>T (n.*3248G>T) n.407G>T c.3555G>T (p.Gln1185His) c.3513G>T (p.Gln1171His) c.3777G>T (p.Gln1259His) c.3699G>T (p.Gln1233His) c.3666G>T (p.Gln1222His) c.3675G>T (p.Gln1225His) c.2685G>T (p.Gln895His) | |
1 | g.154584839C= | CA2480931182 | ADAR | c.3542G= (n.3542G=) c.3678G= (p.Gln1226=) c.3531G= (p.Gln1177=) c.3300G= (p.Gln1100=) c.2763G= (p.Gln921=) c.3648G= (p.Gln1216=) n.2441G= c.3570G= (p.Gln1190=) n.3633G= c.*1123G= (n.*1123G=) n.4384G= c.*814G= (n.*814G=) c.*1880G= (n.*1880G=) n.4509G= c.2706G= (p.Gln902=) c.3465G= (p.Gln1155=) c.*3170G= (n.*3170G=) n.3316G= c.*3248G= (n.*3248G=) n.407G= c.3555G= (p.Gln1185=) c.3513G= (p.Gln1171=) c.3777G= (p.Gln1259=) c.3699G= (p.Gln1233=) c.3666G= (p.Gln1222=) c.3675G= (p.Gln1225=) c.2685G= (p.Gln895=) | |
1 | g.154584839C>G | CA342634485 | ADAR | c.3542G>C (n.3542G>C) c.3678G>C (p.Gln1226His) c.3531G>C (p.Gln1177His) c.3300G>C (p.Gln1100His) c.2763G>C (p.Gln921His) c.3648G>C (p.Gln1216His) n.2441G>C c.3570G>C (p.Gln1190His) n.3633G>C c.*1123G>C (n.*1123G>C) n.4384G>C c.*814G>C (n.*814G>C) c.*1880G>C (n.*1880G>C) n.4509G>C c.2706G>C (p.Gln902His) c.3465G>C (p.Gln1155His) c.*3170G>C (n.*3170G>C) n.3316G>C c.*3248G>C (n.*3248G>C) n.407G>C c.3555G>C (p.Gln1185His) c.3513G>C (p.Gln1171His) c.3777G>C (p.Gln1259His) c.3699G>C (p.Gln1233His) c.3666G>C (p.Gln1222His) c.3675G>C (p.Gln1225His) c.2685G>C (p.Gln895His) | |
1 | g.154584839C>T | CA421231322 | ADAR | c.3542G>A (n.3542G>A) c.3678G>A (p.Gln1226=) c.3531G>A (p.Gln1177=) c.3300G>A (p.Gln1100=) c.2763G>A (p.Gln921=) c.3648G>A (p.Gln1216=) n.2441G>A c.3570G>A (p.Gln1190=) n.3633G>A c.*1123G>A (n.*1123G>A) n.4384G>A c.*814G>A (n.*814G>A) c.*1880G>A (n.*1880G>A) n.4509G>A c.2706G>A (p.Gln902=) c.3465G>A (p.Gln1155=) c.*3170G>A (n.*3170G>A) n.3316G>A c.*3248G>A (n.*3248G>A) n.407G>A c.3555G>A (p.Gln1185=) c.3513G>A (p.Gln1171=) c.3777G>A (p.Gln1259=) c.3699G>A (p.Gln1233=) c.3666G>A (p.Gln1222=) c.3675G>A (p.Gln1225=) c.2685G>A (p.Gln895=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584840T>A | CA342634486 | ADAR | c.3541A>T (n.3541A>T) c.3677A>T (p.Gln1226Leu) c.3530A>T (p.Gln1177Leu) c.3299A>T (p.Gln1100Leu) c.2762A>T (p.Gln921Leu) c.3647A>T (p.Gln1216Leu) n.2440A>T c.3569A>T (p.Gln1190Leu) n.3632A>T c.*1122A>T (n.*1122A>T) n.4383A>T c.*813A>T (n.*813A>T) c.*1879A>T (n.*1879A>T) n.4508A>T c.2705A>T (p.Gln902Leu) c.3464A>T (p.Gln1155Leu) c.*3169A>T (n.*3169A>T) n.3315A>T c.*3247A>T (n.*3247A>T) n.406A>T c.3554A>T (p.Gln1185Leu) c.3512A>T (p.Gln1171Leu) c.3776A>T (p.Gln1259Leu) c.3698A>T (p.Gln1233Leu) c.3665A>T (p.Gln1222Leu) c.3674A>T (p.Gln1225Leu) c.2684A>T (p.Gln895Leu) | |
1 | g.154584840T>C | CA30848556 | ADAR | c.3541A>G (n.3541A>G) c.3677A>G (p.Gln1226Arg) c.3530A>G (p.Gln1177Arg) c.3299A>G (p.Gln1100Arg) c.2762A>G (p.Gln921Arg) c.3647A>G (p.Gln1216Arg) n.2440A>G c.3569A>G (p.Gln1190Arg) n.3632A>G c.*1122A>G (n.*1122A>G) n.4383A>G c.*813A>G (n.*813A>G) c.*1879A>G (n.*1879A>G) n.4508A>G c.2705A>G (p.Gln902Arg) c.3464A>G (p.Gln1155Arg) c.*3169A>G (n.*3169A>G) n.3315A>G c.*3247A>G (n.*3247A>G) n.406A>G c.3554A>G (p.Gln1185Arg) c.3512A>G (p.Gln1171Arg) c.3776A>G (p.Gln1259Arg) c.3698A>G (p.Gln1233Arg) c.3665A>G (p.Gln1222Arg) c.3674A>G (p.Gln1225Arg) c.2684A>G (p.Gln895Arg) | ClinVar dbSNP |
1 | g.154584840T>G | CA342634487 | ADAR | c.3541A>C (n.3541A>C) c.3677A>C (p.Gln1226Pro) c.3530A>C (p.Gln1177Pro) c.3299A>C (p.Gln1100Pro) c.2762A>C (p.Gln921Pro) c.3647A>C (p.Gln1216Pro) n.2440A>C c.3569A>C (p.Gln1190Pro) n.3632A>C c.*1122A>C (n.*1122A>C) n.4383A>C c.*813A>C (n.*813A>C) c.*1879A>C (n.*1879A>C) n.4508A>C c.2705A>C (p.Gln902Pro) c.3464A>C (p.Gln1155Pro) c.*3169A>C (n.*3169A>C) n.3315A>C c.*3247A>C (n.*3247A>C) n.406A>C c.3554A>C (p.Gln1185Pro) c.3512A>C (p.Gln1171Pro) c.3776A>C (p.Gln1259Pro) c.3698A>C (p.Gln1233Pro) c.3665A>C (p.Gln1222Pro) c.3674A>C (p.Gln1225Pro) c.2684A>C (p.Gln895Pro) | |
1 | g.154584840T= | CA2480931184 | ADAR | c.3541A= (n.3541A=) c.3677A= (p.Gln1226=) c.3530A= (p.Gln1177=) c.3299A= (p.Gln1100=) c.2762A= (p.Gln921=) c.3647A= (p.Gln1216=) n.2440A= c.3569A= (p.Gln1190=) n.3632A= c.*1122A= (n.*1122A=) n.4383A= c.*813A= (n.*813A=) c.*1879A= (n.*1879A=) n.4508A= c.2705A= (p.Gln902=) c.3464A= (p.Gln1155=) c.*3169A= (n.*3169A=) n.3315A= c.*3247A= (n.*3247A=) n.406A= c.3554A= (p.Gln1185=) c.3512A= (p.Gln1171=) c.3776A= (p.Gln1259=) c.3698A= (p.Gln1233=) c.3665A= (p.Gln1222=) c.3674A= (p.Gln1225=) c.2684A= (p.Gln895=) | |
1 | g.154584840_154584841insTTTTTTTTCTTTTTAAGCCATAATT | CA2480931183 | ADAR | c.3541_3542insATTATGGCTTAAAAAGAAAAAAAAA (n.3541_3542insATTATGGCTTAAAAAGAAAAAAAAA) c.3677_3678insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1227LeufsTer35) c.3530_3531insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1178LeufsTer35) c.3299_3300insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1101LeufsTer35) c.2762_2763insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu922LeufsTer35) c.3647_3648insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1217LeufsTer35) n.2440_2441insATTATGGCTTAAAAAGAAAAAAAAA c.3569_3570insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1191LeufsTer35) n.3632_3633insATTATGGCTTAAAAAGAAAAAAAAA c.*1122_*1123insATTATGGCTTAAAAAGAAAAAAAAA (n.*1122_*1123insATTATGGCTTAAAAAGAAAAAAAAA) n.4383_4384insATTATGGCTTAAAAAGAAAAAAAAA c.*813_*814insATTATGGCTTAAAAAGAAAAAAAAA (n.*813_*814insATTATGGCTTAAAAAGAAAAAAAAA) c.*1879_*1880insATTATGGCTTAAAAAGAAAAAAAAA (n.*1879_*1880insATTATGGCTTAAAAAGAAAAAAAAA) n.4508_4509insATTATGGCTTAAAAAGAAAAAAAAA c.2705_2706insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu903LeufsTer35) c.3464_3465insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1156LeufsTer35) c.*3169_*3170insATTATGGCTTAAAAAGAAAAAAAAA (n.*3169_*3170insATTATGGCTTAAAAAGAAAAAAAAA) n.3315_3316insATTATGGCTTAAAAAGAAAAAAAAA c.*3247_*3248insATTATGGCTTAAAAAGAAAAAAAAA (n.*3247_*3248insATTATGGCTTAAAAAGAAAAAAAAA) n.406_407insATTATGGCTTAAAAAGAAAAAAAAA c.3554_3555insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1186LeufsTer?) c.3512_3513insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1172LeufsTer35) c.3776_3777insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1260LeufsTer35) c.3698_3699insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1234LeufsTer35) c.3665_3666insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1223LeufsTer35) c.3674_3675insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1226LeufsTer35) c.2684_2685insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu896LeufsTer35) | dbSNP |
1 | g.154584841G>A | CA342634488 | ADAR | c.3540C>T (n.3540C>T) c.3676C>T (p.Gln1226Ter) c.3529C>T (p.Gln1177Ter) c.3298C>T (p.Gln1100Ter) c.2761C>T (p.Gln921Ter) c.3646C>T (p.Gln1216Ter) n.2439C>T c.3568C>T (p.Gln1190Ter) n.3631C>T c.*1121C>T (n.*1121C>T) n.4382C>T c.*812C>T (n.*812C>T) c.*1878C>T (n.*1878C>T) n.4507C>T c.2704C>T (p.Gln902Ter) c.3463C>T (p.Gln1155Ter) c.*3168C>T (n.*3168C>T) n.3314C>T c.*3246C>T (n.*3246C>T) n.405C>T c.3553C>T (p.Gln1185Ter) c.3511C>T (p.Gln1171Ter) c.3775C>T (p.Gln1259Ter) c.3697C>T (p.Gln1233Ter) c.3664C>T (p.Gln1222Ter) c.3673C>T (p.Gln1225Ter) c.2683C>T (p.Gln895Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584841G>C | CA342634489 | ADAR | c.3540C>G (n.3540C>G) c.3676C>G (p.Gln1226Glu) c.3529C>G (p.Gln1177Glu) c.3298C>G (p.Gln1100Glu) c.2761C>G (p.Gln921Glu) c.3646C>G (p.Gln1216Glu) n.2439C>G c.3568C>G (p.Gln1190Glu) n.3631C>G c.*1121C>G (n.*1121C>G) n.4382C>G c.*812C>G (n.*812C>G) c.*1878C>G (n.*1878C>G) n.4507C>G c.2704C>G (p.Gln902Glu) c.3463C>G (p.Gln1155Glu) c.*3168C>G (n.*3168C>G) n.3314C>G c.*3246C>G (n.*3246C>G) n.405C>G c.3553C>G (p.Gln1185Glu) c.3511C>G (p.Gln1171Glu) c.3775C>G (p.Gln1259Glu) c.3697C>G (p.Gln1233Glu) c.3664C>G (p.Gln1222Glu) c.3673C>G (p.Gln1225Glu) c.2683C>G (p.Gln895Glu) | |
1 | g.154584841G= | CA2480931185 | ADAR | c.3540C= (n.3540C=) c.3676C= (p.Gln1226=) c.3529C= (p.Gln1177=) c.3298C= (p.Gln1100=) c.2761C= (p.Gln921=) c.3646C= (p.Gln1216=) n.2439C= c.3568C= (p.Gln1190=) n.3631C= c.*1121C= (n.*1121C=) n.4382C= c.*812C= (n.*812C=) c.*1878C= (n.*1878C=) n.4507C= c.2704C= (p.Gln902=) c.3463C= (p.Gln1155=) c.*3168C= (n.*3168C=) n.3314C= c.*3246C= (n.*3246C=) n.405C= c.3553C= (p.Gln1185=) c.3511C= (p.Gln1171=) c.3775C= (p.Gln1259=) c.3697C= (p.Gln1233=) c.3664C= (p.Gln1222=) c.3673C= (p.Gln1225=) c.2683C= (p.Gln895=) | |
1 | g.154584841G>T | CA342634490 | ADAR | c.3540C>A (n.3540C>A) c.3676C>A (p.Gln1226Lys) c.3529C>A (p.Gln1177Lys) c.3298C>A (p.Gln1100Lys) c.2761C>A (p.Gln921Lys) c.3646C>A (p.Gln1216Lys) n.2439C>A c.3568C>A (p.Gln1190Lys) n.3631C>A c.*1121C>A (n.*1121C>A) n.4382C>A c.*812C>A (n.*812C>A) c.*1878C>A (n.*1878C>A) n.4507C>A c.2704C>A (p.Gln902Lys) c.3463C>A (p.Gln1155Lys) c.*3168C>A (n.*3168C>A) n.3314C>A c.*3246C>A (n.*3246C>A) n.405C>A c.3553C>A (p.Gln1185Lys) c.3511C>A (p.Gln1171Lys) c.3775C>A (p.Gln1259Lys) c.3697C>A (p.Gln1233Lys) c.3664C>A (p.Gln1222Lys) c.3673C>A (p.Gln1225Lys) c.2683C>A (p.Gln895Lys) | |
1 | g.154584842G>A | CA421231326 | ADAR | c.3539C>T (n.3539C>T) c.3675C>T (p.Pro1225=) c.3528C>T (p.Pro1176=) c.3297C>T (p.Pro1099=) c.2760C>T (p.Pro920=) c.3645C>T (p.Pro1215=) n.2438C>T c.3567C>T (p.Pro1189=) n.3630C>T c.*1120C>T (n.*1120C>T) n.4381C>T c.*811C>T (n.*811C>T) c.*1877C>T (n.*1877C>T) n.4506C>T c.2703C>T (p.Pro901=) c.3462C>T (p.Pro1154=) c.*3167C>T (n.*3167C>T) n.3313C>T c.*3245C>T (n.*3245C>T) n.404C>T c.3552C>T (p.Pro1184=) c.3510C>T (p.Pro1170=) c.3774C>T (p.Pro1258=) c.3696C>T (p.Pro1232=) c.3663C>T (p.Pro1221=) c.3672C>T (p.Pro1224=) c.2682C>T (p.Pro894=) | gnomAD v4 |
1 | g.154584842G>C | CA10607784 | ADAR | c.3539C>G (n.3539C>G) c.3675C>G (p.Pro1225=) c.3528C>G (p.Pro1176=) c.3297C>G (p.Pro1099=) c.2760C>G (p.Pro920=) c.3645C>G (p.Pro1215=) n.2438C>G c.3567C>G (p.Pro1189=) n.3630C>G c.*1120C>G (n.*1120C>G) n.4381C>G c.*811C>G (n.*811C>G) c.*1877C>G (n.*1877C>G) n.4506C>G c.2703C>G (p.Pro901=) c.3462C>G (p.Pro1154=) c.*3167C>G (n.*3167C>G) n.3313C>G c.*3245C>G (n.*3245C>G) n.404C>G c.3552C>G (p.Pro1184=) c.3510C>G (p.Pro1170=) c.3774C>G (p.Pro1258=) c.3696C>G (p.Pro1232=) c.3663C>G (p.Pro1221=) c.3672C>G (p.Pro1224=) c.2682C>G (p.Pro894=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154584842G= | CA2480931186 | ADAR | c.3539C= (n.3539C=) c.3675C= (p.Pro1225=) c.3528C= (p.Pro1176=) c.3297C= (p.Pro1099=) c.2760C= (p.Pro920=) c.3645C= (p.Pro1215=) n.2438C= c.3567C= (p.Pro1189=) n.3630C= c.*1120C= (n.*1120C=) n.4381C= c.*811C= (n.*811C=) c.*1877C= (n.*1877C=) n.4506C= c.2703C= (p.Pro901=) c.3462C= (p.Pro1154=) c.*3167C= (n.*3167C=) n.3313C= c.*3245C= (n.*3245C=) n.404C= c.3552C= (p.Pro1184=) c.3510C= (p.Pro1170=) c.3774C= (p.Pro1258=) c.3696C= (p.Pro1232=) c.3663C= (p.Pro1221=) c.3672C= (p.Pro1224=) c.2682C= (p.Pro894=) | |
1 | g.154584842G>T | CA421231323 | ADAR | c.3539C>A (n.3539C>A) c.3675C>A (p.Pro1225=) c.3528C>A (p.Pro1176=) c.3297C>A (p.Pro1099=) c.2760C>A (p.Pro920=) c.3645C>A (p.Pro1215=) n.2438C>A c.3567C>A (p.Pro1189=) n.3630C>A c.*1120C>A (n.*1120C>A) n.4381C>A c.*811C>A (n.*811C>A) c.*1877C>A (n.*1877C>A) n.4506C>A c.2703C>A (p.Pro901=) c.3462C>A (p.Pro1154=) c.*3167C>A (n.*3167C>A) n.3313C>A c.*3245C>A (n.*3245C>A) n.404C>A c.3552C>A (p.Pro1184=) c.3510C>A (p.Pro1170=) c.3774C>A (p.Pro1258=) c.3696C>A (p.Pro1232=) c.3663C>A (p.Pro1221=) c.3672C>A (p.Pro1224=) c.2682C>A (p.Pro894=) | |
1 | g.154584843G>A | CA342634491 | ADAR | c.3538C>T (n.3538C>T) c.3674C>T (p.Pro1225Leu) c.3527C>T (p.Pro1176Leu) c.3296C>T (p.Pro1099Leu) c.2759C>T (p.Pro920Leu) c.3644C>T (p.Pro1215Leu) n.2437C>T c.3566C>T (p.Pro1189Leu) n.3629C>T c.*1119C>T (n.*1119C>T) n.4380C>T c.*810C>T (n.*810C>T) c.*1876C>T (n.*1876C>T) n.4505C>T c.2702C>T (p.Pro901Leu) c.3461C>T (p.Pro1154Leu) c.*3166C>T (n.*3166C>T) n.3312C>T c.*3244C>T (n.*3244C>T) n.403C>T c.3551C>T (p.Pro1184Leu) c.3509C>T (p.Pro1170Leu) c.3773C>T (p.Pro1258Leu) c.3695C>T (p.Pro1232Leu) c.3662C>T (p.Pro1221Leu) c.3671C>T (p.Pro1224Leu) c.2681C>T (p.Pro894Leu) | |
1 | g.154584843G>C | CA342634492 | ADAR | c.3538C>G (n.3538C>G) c.3674C>G (p.Pro1225Arg) c.3527C>G (p.Pro1176Arg) c.3296C>G (p.Pro1099Arg) c.2759C>G (p.Pro920Arg) c.3644C>G (p.Pro1215Arg) n.2437C>G c.3566C>G (p.Pro1189Arg) n.3629C>G c.*1119C>G (n.*1119C>G) n.4380C>G c.*810C>G (n.*810C>G) c.*1876C>G (n.*1876C>G) n.4505C>G c.2702C>G (p.Pro901Arg) c.3461C>G (p.Pro1154Arg) c.*3166C>G (n.*3166C>G) n.3312C>G c.*3244C>G (n.*3244C>G) n.403C>G c.3551C>G (p.Pro1184Arg) c.3509C>G (p.Pro1170Arg) c.3773C>G (p.Pro1258Arg) c.3695C>G (p.Pro1232Arg) c.3662C>G (p.Pro1221Arg) c.3671C>G (p.Pro1224Arg) c.2681C>G (p.Pro894Arg) | |
1 | g.154584843G= | CA2480931187 | ADAR | c.3538C= (n.3538C=) c.3674C= (p.Pro1225=) c.3527C= (p.Pro1176=) c.3296C= (p.Pro1099=) c.2759C= (p.Pro920=) c.3644C= (p.Pro1215=) n.2437C= c.3566C= (p.Pro1189=) n.3629C= c.*1119C= (n.*1119C=) n.4380C= c.*810C= (n.*810C=) c.*1876C= (n.*1876C=) n.4505C= c.2702C= (p.Pro901=) c.3461C= (p.Pro1154=) c.*3166C= (n.*3166C=) n.3312C= c.*3244C= (n.*3244C=) n.403C= c.3551C= (p.Pro1184=) c.3509C= (p.Pro1170=) c.3773C= (p.Pro1258=) c.3695C= (p.Pro1232=) c.3662C= (p.Pro1221=) c.3671C= (p.Pro1224=) c.2681C= (p.Pro894=) | |
1 | g.154584843G>T | CA342634493 | ADAR | c.3538C>A (n.3538C>A) c.3674C>A (p.Pro1225His) c.3527C>A (p.Pro1176His) c.3296C>A (p.Pro1099His) c.2759C>A (p.Pro920His) c.3644C>A (p.Pro1215His) n.2437C>A c.3566C>A (p.Pro1189His) n.3629C>A c.*1119C>A (n.*1119C>A) n.4380C>A c.*810C>A (n.*810C>A) c.*1876C>A (n.*1876C>A) n.4505C>A c.2702C>A (p.Pro901His) c.3461C>A (p.Pro1154His) c.*3166C>A (n.*3166C>A) n.3312C>A c.*3244C>A (n.*3244C>A) n.403C>A c.3551C>A (p.Pro1184His) c.3509C>A (p.Pro1170His) c.3773C>A (p.Pro1258His) c.3695C>A (p.Pro1232His) c.3662C>A (p.Pro1221His) c.3671C>A (p.Pro1224His) c.2681C>A (p.Pro894His) | dbSNP |
1 | g.154584844G>A | CA342634495 | ADAR | c.3537C>T (n.3537C>T) c.3673C>T (p.Pro1225Ser) c.3526C>T (p.Pro1176Ser) c.3295C>T (p.Pro1099Ser) c.2758C>T (p.Pro920Ser) c.3643C>T (p.Pro1215Ser) n.2436C>T c.3565C>T (p.Pro1189Ser) n.3628C>T c.*1118C>T (n.*1118C>T) n.4379C>T c.*809C>T (n.*809C>T) c.*1875C>T (n.*1875C>T) n.4504C>T c.2701C>T (p.Pro901Ser) c.3460C>T (p.Pro1154Ser) c.*3165C>T (n.*3165C>T) n.3311C>T c.*3243C>T (n.*3243C>T) n.402C>T c.3550C>T (p.Pro1184Ser) c.3508C>T (p.Pro1170Ser) c.3772C>T (p.Pro1258Ser) c.3694C>T (p.Pro1232Ser) c.3661C>T (p.Pro1221Ser) c.3670C>T (p.Pro1224Ser) c.2680C>T (p.Pro894Ser) | |
1 | g.154584844G>C | CA342634496 | ADAR | c.3537C>G (n.3537C>G) c.3673C>G (p.Pro1225Ala) c.3526C>G (p.Pro1176Ala) c.3295C>G (p.Pro1099Ala) c.2758C>G (p.Pro920Ala) c.3643C>G (p.Pro1215Ala) n.2436C>G c.3565C>G (p.Pro1189Ala) n.3628C>G c.*1118C>G (n.*1118C>G) n.4379C>G c.*809C>G (n.*809C>G) c.*1875C>G (n.*1875C>G) n.4504C>G c.2701C>G (p.Pro901Ala) c.3460C>G (p.Pro1154Ala) c.*3165C>G (n.*3165C>G) n.3311C>G c.*3243C>G (n.*3243C>G) n.402C>G c.3550C>G (p.Pro1184Ala) c.3508C>G (p.Pro1170Ala) c.3772C>G (p.Pro1258Ala) c.3694C>G (p.Pro1232Ala) c.3661C>G (p.Pro1221Ala) c.3670C>G (p.Pro1224Ala) c.2680C>G (p.Pro894Ala) | |
1 | g.154584844G>T | CA342634494 | ADAR | c.3537C>A (n.3537C>A) c.3673C>A (p.Pro1225Thr) c.3526C>A (p.Pro1176Thr) c.3295C>A (p.Pro1099Thr) c.2758C>A (p.Pro920Thr) c.3643C>A (p.Pro1215Thr) n.2436C>A c.3565C>A (p.Pro1189Thr) n.3628C>A c.*1118C>A (n.*1118C>A) n.4379C>A c.*809C>A (n.*809C>A) c.*1875C>A (n.*1875C>A) n.4504C>A c.2701C>A (p.Pro901Thr) c.3460C>A (p.Pro1154Thr) c.*3165C>A (n.*3165C>A) n.3311C>A c.*3243C>A (n.*3243C>A) n.402C>A c.3550C>A (p.Pro1184Thr) c.3508C>A (p.Pro1170Thr) c.3772C>A (p.Pro1258Thr) c.3694C>A (p.Pro1232Thr) c.3661C>A (p.Pro1221Thr) c.3670C>A (p.Pro1224Thr) c.2680C>A (p.Pro894Thr) | gnomAD v4 |
1 | g.154584845T>A | CA342634498 | ADAR | c.3536A>T (n.3536A>T) c.3672A>T (p.Lys1224Asn) c.3525A>T (p.Lys1175Asn) c.3294A>T (p.Lys1098Asn) c.2757A>T (p.Lys919Asn) c.3642A>T (p.Lys1214Asn) n.2435A>T c.3564A>T (p.Lys1188Asn) n.3627A>T c.*1117A>T (n.*1117A>T) n.4378A>T c.*808A>T (n.*808A>T) c.*1874A>T (n.*1874A>T) n.4503A>T c.2700A>T (p.Lys900Asn) c.3459A>T (p.Lys1153Asn) c.*3164A>T (n.*3164A>T) n.3310A>T c.*3242A>T (n.*3242A>T) n.401A>T c.3549A>T (p.Lys1183Asn) c.3507A>T (p.Lys1169Asn) c.3771A>T (p.Lys1257Asn) c.3693A>T (p.Lys1231Asn) c.3660A>T (p.Lys1220Asn) c.3669A>T (p.Lys1223Asn) c.2679A>T (p.Lys893Asn) | |
1 | g.154584845T>C | CA421231335 | ADAR | c.3536A>G (n.3536A>G) c.3672A>G (p.Lys1224=) c.3525A>G (p.Lys1175=) c.3294A>G (p.Lys1098=) c.2757A>G (p.Lys919=) c.3642A>G (p.Lys1214=) n.2435A>G c.3564A>G (p.Lys1188=) n.3627A>G c.*1117A>G (n.*1117A>G) n.4378A>G c.*808A>G (n.*808A>G) c.*1874A>G (n.*1874A>G) n.4503A>G c.2700A>G (p.Lys900=) c.3459A>G (p.Lys1153=) c.*3164A>G (n.*3164A>G) n.3310A>G c.*3242A>G (n.*3242A>G) n.401A>G c.3549A>G (p.Lys1183=) c.3507A>G (p.Lys1169=) c.3771A>G (p.Lys1257=) c.3693A>G (p.Lys1231=) c.3660A>G (p.Lys1220=) c.3669A>G (p.Lys1223=) c.2679A>G (p.Lys893=) | |
1 | g.154584845T>G | CA342634497 | ADAR | c.3536A>C (n.3536A>C) c.3672A>C (p.Lys1224Asn) c.3525A>C (p.Lys1175Asn) c.3294A>C (p.Lys1098Asn) c.2757A>C (p.Lys919Asn) c.3642A>C (p.Lys1214Asn) n.2435A>C c.3564A>C (p.Lys1188Asn) n.3627A>C c.*1117A>C (n.*1117A>C) n.4378A>C c.*808A>C (n.*808A>C) c.*1874A>C (n.*1874A>C) n.4503A>C c.2700A>C (p.Lys900Asn) c.3459A>C (p.Lys1153Asn) c.*3164A>C (n.*3164A>C) n.3310A>C c.*3242A>C (n.*3242A>C) n.401A>C c.3549A>C (p.Lys1183Asn) c.3507A>C (p.Lys1169Asn) c.3771A>C (p.Lys1257Asn) c.3693A>C (p.Lys1231Asn) c.3660A>C (p.Lys1220Asn) c.3669A>C (p.Lys1223Asn) c.2679A>C (p.Lys893Asn) | |
1 | g.154584847del | CA2648175427 | ADAR | c.3536del (n.3536del) c.3672del (p.Lys1224AsnfsTer18) c.3525del (p.Lys1175AsnfsTer18) c.3294del (p.Lys1098AsnfsTer18) c.2757del (p.Lys919AsnfsTer18) c.3642del (p.Lys1214AsnfsTer18) n.2435del c.3564del (p.Lys1188AsnfsTer18) n.3627del c.*1117del (n.*1117del) n.4378del c.*808del (n.*808del) c.*1874del (n.*1874del) n.4503del c.2700del (p.Lys900AsnfsTer18) c.3459del (p.Lys1153AsnfsTer18) c.*3164del (n.*3164del) n.3310del c.*3242del (n.*3242del) n.401del c.3549del (p.Lys1183AsnfsTer?) c.3507del (p.Lys1169AsnfsTer18) c.3771del (p.Lys1257AsnfsTer18) c.3693del (p.Lys1231AsnfsTer18) c.3660del (p.Lys1220AsnfsTer18) c.3669del (p.Lys1223AsnfsTer18) c.2679del (p.Lys893AsnfsTer18) | gnomAD v4 |
1 | g.154584846T>A | CA342634501 | ADAR | c.3535A>T (n.3535A>T) c.3671A>T (p.Lys1224Ile) c.3524A>T (p.Lys1175Ile) c.3293A>T (p.Lys1098Ile) c.2756A>T (p.Lys919Ile) c.3641A>T (p.Lys1214Ile) n.2434A>T c.3563A>T (p.Lys1188Ile) n.3626A>T c.*1116A>T (n.*1116A>T) n.4377A>T c.*807A>T (n.*807A>T) c.*1873A>T (n.*1873A>T) n.4502A>T c.2699A>T (p.Lys900Ile) c.3458A>T (p.Lys1153Ile) c.*3163A>T (n.*3163A>T) n.3309A>T c.*3241A>T (n.*3241A>T) n.400A>T c.3548A>T (p.Lys1183Ile) c.3506A>T (p.Lys1169Ile) c.3770A>T (p.Lys1257Ile) c.3692A>T (p.Lys1231Ile) c.3659A>T (p.Lys1220Ile) c.3668A>T (p.Lys1223Ile) c.2678A>T (p.Lys893Ile) | |
1 | g.154584846T>C | CA342634499 | ADAR | c.3535A>G (n.3535A>G) c.3671A>G (p.Lys1224Arg) c.3524A>G (p.Lys1175Arg) c.3293A>G (p.Lys1098Arg) c.2756A>G (p.Lys919Arg) c.3641A>G (p.Lys1214Arg) n.2434A>G c.3563A>G (p.Lys1188Arg) n.3626A>G c.*1116A>G (n.*1116A>G) n.4377A>G c.*807A>G (n.*807A>G) c.*1873A>G (n.*1873A>G) n.4502A>G c.2699A>G (p.Lys900Arg) c.3458A>G (p.Lys1153Arg) c.*3163A>G (n.*3163A>G) n.3309A>G c.*3241A>G (n.*3241A>G) n.400A>G c.3548A>G (p.Lys1183Arg) c.3506A>G (p.Lys1169Arg) c.3770A>G (p.Lys1257Arg) c.3692A>G (p.Lys1231Arg) c.3659A>G (p.Lys1220Arg) c.3668A>G (p.Lys1223Arg) c.2678A>G (p.Lys893Arg) | ClinVar gnomAD v4 |
1 | g.154584846T>G | CA342634500 | ADAR | c.3535A>C (n.3535A>C) c.3671A>C (p.Lys1224Thr) c.3524A>C (p.Lys1175Thr) c.3293A>C (p.Lys1098Thr) c.2756A>C (p.Lys919Thr) c.3641A>C (p.Lys1214Thr) n.2434A>C c.3563A>C (p.Lys1188Thr) n.3626A>C c.*1116A>C (n.*1116A>C) n.4377A>C c.*807A>C (n.*807A>C) c.*1873A>C (n.*1873A>C) n.4502A>C c.2699A>C (p.Lys900Thr) c.3458A>C (p.Lys1153Thr) c.*3163A>C (n.*3163A>C) n.3309A>C c.*3241A>C (n.*3241A>C) n.400A>C c.3548A>C (p.Lys1183Thr) c.3506A>C (p.Lys1169Thr) c.3770A>C (p.Lys1257Thr) c.3692A>C (p.Lys1231Thr) c.3659A>C (p.Lys1220Thr) c.3668A>C (p.Lys1223Thr) c.2678A>C (p.Lys893Thr) | |
1 | g.154584847T>A | CA342634502 | ADAR | c.3534A>T (n.3534A>T) c.3670A>T (p.Lys1224Ter) c.3523A>T (p.Lys1175Ter) c.3292A>T (p.Lys1098Ter) c.2755A>T (p.Lys919Ter) c.3640A>T (p.Lys1214Ter) n.2433A>T c.3562A>T (p.Lys1188Ter) n.3625A>T c.*1115A>T (n.*1115A>T) n.4376A>T c.*806A>T (n.*806A>T) c.*1872A>T (n.*1872A>T) n.4501A>T c.2698A>T (p.Lys900Ter) c.3457A>T (p.Lys1153Ter) c.*3162A>T (n.*3162A>T) n.3308A>T c.*3240A>T (n.*3240A>T) n.399A>T c.3547A>T (p.Lys1183Ter) c.3505A>T (p.Lys1169Ter) c.3769A>T (p.Lys1257Ter) c.3691A>T (p.Lys1231Ter) c.3658A>T (p.Lys1220Ter) c.3667A>T (p.Lys1223Ter) c.2677A>T (p.Lys893Ter) | |
1 | g.154584847T>C | CA342634503 | ADAR | c.3534A>G (n.3534A>G) c.3670A>G (p.Lys1224Glu) c.3523A>G (p.Lys1175Glu) c.3292A>G (p.Lys1098Glu) c.2755A>G (p.Lys919Glu) c.3640A>G (p.Lys1214Glu) n.2433A>G c.3562A>G (p.Lys1188Glu) n.3625A>G c.*1115A>G (n.*1115A>G) n.4376A>G c.*806A>G (n.*806A>G) c.*1872A>G (n.*1872A>G) n.4501A>G c.2698A>G (p.Lys900Glu) c.3457A>G (p.Lys1153Glu) c.*3162A>G (n.*3162A>G) n.3308A>G c.*3240A>G (n.*3240A>G) n.399A>G c.3547A>G (p.Lys1183Glu) c.3505A>G (p.Lys1169Glu) c.3769A>G (p.Lys1257Glu) c.3691A>G (p.Lys1231Glu) c.3658A>G (p.Lys1220Glu) c.3667A>G (p.Lys1223Glu) c.2677A>G (p.Lys893Glu) | |
1 | g.154584847T>G | CA342634504 | ADAR | c.3534A>C (n.3534A>C) c.3670A>C (p.Lys1224Gln) c.3523A>C (p.Lys1175Gln) c.3292A>C (p.Lys1098Gln) c.2755A>C (p.Lys919Gln) c.3640A>C (p.Lys1214Gln) n.2433A>C c.3562A>C (p.Lys1188Gln) n.3625A>C c.*1115A>C (n.*1115A>C) n.4376A>C c.*806A>C (n.*806A>C) c.*1872A>C (n.*1872A>C) n.4501A>C c.2698A>C (p.Lys900Gln) c.3457A>C (p.Lys1153Gln) c.*3162A>C (n.*3162A>C) n.3308A>C c.*3240A>C (n.*3240A>C) n.399A>C c.3547A>C (p.Lys1183Gln) c.3505A>C (p.Lys1169Gln) c.3769A>C (p.Lys1257Gln) c.3691A>C (p.Lys1231Gln) c.3658A>C (p.Lys1220Gln) c.3667A>C (p.Lys1223Gln) c.2677A>C (p.Lys893Gln) | |
1 | g.154584848G>A | CA421231340 | ADAR | c.3533C>T (n.3533C>T) c.3669C>T (p.Ser1223=) c.3522C>T (p.Ser1174=) c.3291C>T (p.Ser1097=) c.2754C>T (p.Ser918=) c.3639C>T (p.Ser1213=) n.2432C>T c.3561C>T (p.Ser1187=) n.3624C>T c.*1114C>T (n.*1114C>T) n.4375C>T c.*805C>T (n.*805C>T) c.*1871C>T (n.*1871C>T) n.4500C>T c.2697C>T (p.Ser899=) c.3456C>T (p.Ser1152=) c.*3161C>T (n.*3161C>T) n.3307C>T c.*3239C>T (n.*3239C>T) n.398C>T c.3546C>T (p.Ser1182=) c.3504C>T (p.Ser1168=) c.3768C>T (p.Ser1256=) c.3690C>T (p.Ser1230=) c.3657C>T (p.Ser1219=) c.3666C>T (p.Ser1222=) c.2676C>T (p.Ser892=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154584848G>C | CA342634505 | ADAR | c.3533C>G (n.3533C>G) c.3669C>G (p.Ser1223Arg) c.3522C>G (p.Ser1174Arg) c.3291C>G (p.Ser1097Arg) c.2754C>G (p.Ser918Arg) c.3639C>G (p.Ser1213Arg) n.2432C>G c.3561C>G (p.Ser1187Arg) n.3624C>G c.*1114C>G (n.*1114C>G) n.4375C>G c.*805C>G (n.*805C>G) c.*1871C>G (n.*1871C>G) n.4500C>G c.2697C>G (p.Ser899Arg) c.3456C>G (p.Ser1152Arg) c.*3161C>G (n.*3161C>G) n.3307C>G c.*3239C>G (n.*3239C>G) n.398C>G c.3546C>G (p.Ser1182Arg) c.3504C>G (p.Ser1168Arg) c.3768C>G (p.Ser1256Arg) c.3690C>G (p.Ser1230Arg) c.3657C>G (p.Ser1219Arg) c.3666C>G (p.Ser1222Arg) c.2676C>G (p.Ser892Arg) | |
1 | g.154584848G= | CA2480931188 | ADAR | c.3533C= (n.3533C=) c.3669C= (p.Ser1223=) c.3522C= (p.Ser1174=) c.3291C= (p.Ser1097=) c.2754C= (p.Ser918=) c.3639C= (p.Ser1213=) n.2432C= c.3561C= (p.Ser1187=) n.3624C= c.*1114C= (n.*1114C=) n.4375C= c.*805C= (n.*805C=) c.*1871C= (n.*1871C=) n.4500C= c.2697C= (p.Ser899=) c.3456C= (p.Ser1152=) c.*3161C= (n.*3161C=) n.3307C= c.*3239C= (n.*3239C=) n.398C= c.3546C= (p.Ser1182=) c.3504C= (p.Ser1168=) c.3768C= (p.Ser1256=) c.3690C= (p.Ser1230=) c.3657C= (p.Ser1219=) c.3666C= (p.Ser1222=) c.2676C= (p.Ser892=) | |
1 | g.154584848G>T | CA342634506 | ADAR | c.3533C>A (n.3533C>A) c.3669C>A (p.Ser1223Arg) c.3522C>A (p.Ser1174Arg) c.3291C>A (p.Ser1097Arg) c.2754C>A (p.Ser918Arg) c.3639C>A (p.Ser1213Arg) n.2432C>A c.3561C>A (p.Ser1187Arg) n.3624C>A c.*1114C>A (n.*1114C>A) n.4375C>A c.*805C>A (n.*805C>A) c.*1871C>A (n.*1871C>A) n.4500C>A c.2697C>A (p.Ser899Arg) c.3456C>A (p.Ser1152Arg) c.*3161C>A (n.*3161C>A) n.3307C>A c.*3239C>A (n.*3239C>A) n.398C>A c.3546C>A (p.Ser1182Arg) c.3504C>A (p.Ser1168Arg) c.3768C>A (p.Ser1256Arg) c.3690C>A (p.Ser1230Arg) c.3657C>A (p.Ser1219Arg) c.3666C>A (p.Ser1222Arg) c.2676C>A (p.Ser892Arg) | |
1 | g.154584849C>A | CA342634507 | ADAR | c.3532G>T (n.3532G>T) c.3668G>T (p.Ser1223Ile) c.3521G>T (p.Ser1174Ile) c.3290G>T (p.Ser1097Ile) c.2753G>T (p.Ser918Ile) c.3638G>T (p.Ser1213Ile) n.2431G>T c.3560G>T (p.Ser1187Ile) n.3623G>T c.*1113G>T (n.*1113G>T) n.4374G>T c.*804G>T (n.*804G>T) c.*1870G>T (n.*1870G>T) n.4499G>T c.2696G>T (p.Ser899Ile) c.3455G>T (p.Ser1152Ile) c.*3160G>T (n.*3160G>T) n.3306G>T c.*3238G>T (n.*3238G>T) n.397G>T c.3545G>T (p.Ser1182Ile) c.3503G>T (p.Ser1168Ile) c.3767G>T (p.Ser1256Ile) c.3689G>T (p.Ser1230Ile) c.3656G>T (p.Ser1219Ile) c.3665G>T (p.Ser1222Ile) c.2675G>T (p.Ser892Ile) | |
1 | g.154584849C>G | CA342634508 | ADAR | c.3532G>C (n.3532G>C) c.3668G>C (p.Ser1223Thr) c.3521G>C (p.Ser1174Thr) c.3290G>C (p.Ser1097Thr) c.2753G>C (p.Ser918Thr) c.3638G>C (p.Ser1213Thr) n.2431G>C c.3560G>C (p.Ser1187Thr) n.3623G>C c.*1113G>C (n.*1113G>C) n.4374G>C c.*804G>C (n.*804G>C) c.*1870G>C (n.*1870G>C) n.4499G>C c.2696G>C (p.Ser899Thr) c.3455G>C (p.Ser1152Thr) c.*3160G>C (n.*3160G>C) n.3306G>C c.*3238G>C (n.*3238G>C) n.397G>C c.3545G>C (p.Ser1182Thr) c.3503G>C (p.Ser1168Thr) c.3767G>C (p.Ser1256Thr) c.3689G>C (p.Ser1230Thr) c.3656G>C (p.Ser1219Thr) c.3665G>C (p.Ser1222Thr) c.2675G>C (p.Ser892Thr) | |
1 | g.154584849C>T | CA342634509 | ADAR | c.3532G>A (n.3532G>A) c.3668G>A (p.Ser1223Asn) c.3521G>A (p.Ser1174Asn) c.3290G>A (p.Ser1097Asn) c.2753G>A (p.Ser918Asn) c.3638G>A (p.Ser1213Asn) n.2431G>A c.3560G>A (p.Ser1187Asn) n.3623G>A c.*1113G>A (n.*1113G>A) n.4374G>A c.*804G>A (n.*804G>A) c.*1870G>A (n.*1870G>A) n.4499G>A c.2696G>A (p.Ser899Asn) c.3455G>A (p.Ser1152Asn) c.*3160G>A (n.*3160G>A) n.3306G>A c.*3238G>A (n.*3238G>A) n.397G>A c.3545G>A (p.Ser1182Asn) c.3503G>A (p.Ser1168Asn) c.3767G>A (p.Ser1256Asn) c.3689G>A (p.Ser1230Asn) c.3656G>A (p.Ser1219Asn) c.3665G>A (p.Ser1222Asn) c.2675G>A (p.Ser892Asn) | |
1 | g.154584850T>A | CA342634510 | ADAR | c.3531A>T (n.3531A>T) c.3667A>T (p.Ser1223Cys) c.3520A>T (p.Ser1174Cys) c.3289A>T (p.Ser1097Cys) c.2752A>T (p.Ser918Cys) c.3637A>T (p.Ser1213Cys) n.2430A>T c.3559A>T (p.Ser1187Cys) n.3622A>T c.*1112A>T (n.*1112A>T) n.4373A>T c.*803A>T (n.*803A>T) c.*1869A>T (n.*1869A>T) n.4498A>T c.2695A>T (p.Ser899Cys) c.3454A>T (p.Ser1152Cys) c.*3159A>T (n.*3159A>T) n.3305A>T c.*3237A>T (n.*3237A>T) n.396A>T c.3544A>T (p.Ser1182Cys) c.3502A>T (p.Ser1168Cys) c.3766A>T (p.Ser1256Cys) c.3688A>T (p.Ser1230Cys) c.3655A>T (p.Ser1219Cys) c.3664A>T (p.Ser1222Cys) c.2674A>T (p.Ser892Cys) | |
1 | g.154584850T>C | CA342634511 | ADAR | c.3531A>G (n.3531A>G) c.3667A>G (p.Ser1223Gly) c.3520A>G (p.Ser1174Gly) c.3289A>G (p.Ser1097Gly) c.2752A>G (p.Ser918Gly) c.3637A>G (p.Ser1213Gly) n.2430A>G c.3559A>G (p.Ser1187Gly) n.3622A>G c.*1112A>G (n.*1112A>G) n.4373A>G c.*803A>G (n.*803A>G) c.*1869A>G (n.*1869A>G) n.4498A>G c.2695A>G (p.Ser899Gly) c.3454A>G (p.Ser1152Gly) c.*3159A>G (n.*3159A>G) n.3305A>G c.*3237A>G (n.*3237A>G) n.396A>G c.3544A>G (p.Ser1182Gly) c.3502A>G (p.Ser1168Gly) c.3766A>G (p.Ser1256Gly) c.3688A>G (p.Ser1230Gly) c.3655A>G (p.Ser1219Gly) c.3664A>G (p.Ser1222Gly) c.2674A>G (p.Ser892Gly) | |
1 | g.154584850T>G | CA342634512 | ADAR | c.3531A>C (n.3531A>C) c.3667A>C (p.Ser1223Arg) c.3520A>C (p.Ser1174Arg) c.3289A>C (p.Ser1097Arg) c.2752A>C (p.Ser918Arg) c.3637A>C (p.Ser1213Arg) n.2430A>C c.3559A>C (p.Ser1187Arg) n.3622A>C c.*1112A>C (n.*1112A>C) n.4373A>C c.*803A>C (n.*803A>C) c.*1869A>C (n.*1869A>C) n.4498A>C c.2695A>C (p.Ser899Arg) c.3454A>C (p.Ser1152Arg) c.*3159A>C (n.*3159A>C) n.3305A>C c.*3237A>C (n.*3237A>C) n.396A>C c.3544A>C (p.Ser1182Arg) c.3502A>C (p.Ser1168Arg) c.3766A>C (p.Ser1256Arg) c.3688A>C (p.Ser1230Arg) c.3655A>C (p.Ser1219Arg) c.3664A>C (p.Ser1222Arg) c.2674A>C (p.Ser892Arg) | |
1 | g.154584851A>C | CA342634513 | ADAR | c.3530T>G (n.3530T>G) c.3666T>G (p.Ile1222Met) c.3519T>G (p.Ile1173Met) c.3288T>G (p.Ile1096Met) c.2751T>G (p.Ile917Met) c.3636T>G (p.Ile1212Met) n.2429T>G c.3558T>G (p.Ile1186Met) n.3621T>G c.*1111T>G (n.*1111T>G) n.4372T>G c.*802T>G (n.*802T>G) c.*1868T>G (n.*1868T>G) n.4497T>G c.2694T>G (p.Ile898Met) c.3453T>G (p.Ile1151Met) c.*3158T>G (n.*3158T>G) n.3304T>G c.*3236T>G (n.*3236T>G) n.395T>G c.3543T>G (p.Ile1181Met) c.3501T>G (p.Ile1167Met) c.3765T>G (p.Ile1255Met) c.3687T>G (p.Ile1229Met) c.3654T>G (p.Ile1218Met) c.3663T>G (p.Ile1221Met) c.2673T>G (p.Ile891Met) | |
1 | g.154584851A>G | CA421231347 | ADAR | c.3530T>C (n.3530T>C) c.3666T>C (p.Ile1222=) c.3519T>C (p.Ile1173=) c.3288T>C (p.Ile1096=) c.2751T>C (p.Ile917=) c.3636T>C (p.Ile1212=) n.2429T>C c.3558T>C (p.Ile1186=) n.3621T>C c.*1111T>C (n.*1111T>C) n.4372T>C c.*802T>C (n.*802T>C) c.*1868T>C (n.*1868T>C) n.4497T>C c.2694T>C (p.Ile898=) c.3453T>C (p.Ile1151=) c.*3158T>C (n.*3158T>C) n.3304T>C c.*3236T>C (n.*3236T>C) n.395T>C c.3543T>C (p.Ile1181=) c.3501T>C (p.Ile1167=) c.3765T>C (p.Ile1255=) c.3687T>C (p.Ile1229=) c.3654T>C (p.Ile1218=) c.3663T>C (p.Ile1221=) c.2673T>C (p.Ile891=) | ClinVar |
1 | g.154584851A>T | CA421231349 | ADAR | c.3530T>A (n.3530T>A) c.3666T>A (p.Ile1222=) c.3519T>A (p.Ile1173=) c.3288T>A (p.Ile1096=) c.2751T>A (p.Ile917=) c.3636T>A (p.Ile1212=) n.2429T>A c.3558T>A (p.Ile1186=) n.3621T>A c.*1111T>A (n.*1111T>A) n.4372T>A c.*802T>A (n.*802T>A) c.*1868T>A (n.*1868T>A) n.4497T>A c.2694T>A (p.Ile898=) c.3453T>A (p.Ile1151=) c.*3158T>A (n.*3158T>A) n.3304T>A c.*3236T>A (n.*3236T>A) n.395T>A c.3543T>A (p.Ile1181=) c.3501T>A (p.Ile1167=) c.3765T>A (p.Ile1255=) c.3687T>A (p.Ile1229=) c.3654T>A (p.Ile1218=) c.3663T>A (p.Ile1221=) c.2673T>A (p.Ile891=) | |
1 | g.154584852A>C | CA342634514 | ADAR | c.3529T>G (n.3529T>G) c.3665T>G (p.Ile1222Ser) c.3518T>G (p.Ile1173Ser) c.3287T>G (p.Ile1096Ser) c.2750T>G (p.Ile917Ser) c.3635T>G (p.Ile1212Ser) n.2428T>G c.3557T>G (p.Ile1186Ser) n.3620T>G c.*1110T>G (n.*1110T>G) n.4371T>G c.*801T>G (n.*801T>G) c.*1867T>G (n.*1867T>G) n.4496T>G c.2693T>G (p.Ile898Ser) c.3452T>G (p.Ile1151Ser) c.*3157T>G (n.*3157T>G) n.3303T>G c.*3235T>G (n.*3235T>G) n.394T>G c.3542T>G (p.Ile1181Ser) c.3500T>G (p.Ile1167Ser) c.3764T>G (p.Ile1255Ser) c.3686T>G (p.Ile1229Ser) c.3653T>G (p.Ile1218Ser) c.3662T>G (p.Ile1221Ser) c.2672T>G (p.Ile891Ser) | |
1 | g.154584852A>G | CA342634515 | ADAR | c.3529T>C (n.3529T>C) c.3665T>C (p.Ile1222Thr) c.3518T>C (p.Ile1173Thr) c.3287T>C (p.Ile1096Thr) c.2750T>C (p.Ile917Thr) c.3635T>C (p.Ile1212Thr) n.2428T>C c.3557T>C (p.Ile1186Thr) n.3620T>C c.*1110T>C (n.*1110T>C) n.4371T>C c.*801T>C (n.*801T>C) c.*1867T>C (n.*1867T>C) n.4496T>C c.2693T>C (p.Ile898Thr) c.3452T>C (p.Ile1151Thr) c.*3157T>C (n.*3157T>C) n.3303T>C c.*3235T>C (n.*3235T>C) n.394T>C c.3542T>C (p.Ile1181Thr) c.3500T>C (p.Ile1167Thr) c.3764T>C (p.Ile1255Thr) c.3686T>C (p.Ile1229Thr) c.3653T>C (p.Ile1218Thr) c.3662T>C (p.Ile1221Thr) c.2672T>C (p.Ile891Thr) | |
1 | g.154584852A>T | CA342634516 | ADAR | c.3529T>A (n.3529T>A) c.3665T>A (p.Ile1222Asn) c.3518T>A (p.Ile1173Asn) c.3287T>A (p.Ile1096Asn) c.2750T>A (p.Ile917Asn) c.3635T>A (p.Ile1212Asn) n.2428T>A c.3557T>A (p.Ile1186Asn) n.3620T>A c.*1110T>A (n.*1110T>A) n.4371T>A c.*801T>A (n.*801T>A) c.*1867T>A (n.*1867T>A) n.4496T>A c.2693T>A (p.Ile898Asn) c.3452T>A (p.Ile1151Asn) c.*3157T>A (n.*3157T>A) n.3303T>A c.*3235T>A (n.*3235T>A) n.394T>A c.3542T>A (p.Ile1181Asn) c.3500T>A (p.Ile1167Asn) c.3764T>A (p.Ile1255Asn) c.3686T>A (p.Ile1229Asn) c.3653T>A (p.Ile1218Asn) c.3662T>A (p.Ile1221Asn) c.2672T>A (p.Ile891Asn) | |
1 | g.154584853T>A | CA342634517 | ADAR | c.3528A>T (n.3528A>T) c.3664A>T (p.Ile1222Phe) c.3517A>T (p.Ile1173Phe) c.3286A>T (p.Ile1096Phe) c.2749A>T (p.Ile917Phe) c.3634A>T (p.Ile1212Phe) n.2427A>T c.3556A>T (p.Ile1186Phe) n.3619A>T c.*1109A>T (n.*1109A>T) n.4370A>T c.*800A>T (n.*800A>T) c.*1866A>T (n.*1866A>T) n.4495A>T c.2692A>T (p.Ile898Phe) c.3451A>T (p.Ile1151Phe) c.*3156A>T (n.*3156A>T) n.3302A>T c.*3234A>T (n.*3234A>T) n.393A>T c.3541A>T (p.Ile1181Phe) c.3499A>T (p.Ile1167Phe) c.3763A>T (p.Ile1255Phe) c.3685A>T (p.Ile1229Phe) c.3652A>T (p.Ile1218Phe) c.3661A>T (p.Ile1221Phe) c.2671A>T (p.Ile891Phe) | |
1 | g.154584853T>C | CA342634518 | ADAR | c.3528A>G (n.3528A>G) c.3664A>G (p.Ile1222Val) c.3517A>G (p.Ile1173Val) c.3286A>G (p.Ile1096Val) c.2749A>G (p.Ile917Val) c.3634A>G (p.Ile1212Val) n.2427A>G c.3556A>G (p.Ile1186Val) n.3619A>G c.*1109A>G (n.*1109A>G) n.4370A>G c.*800A>G (n.*800A>G) c.*1866A>G (n.*1866A>G) n.4495A>G c.2692A>G (p.Ile898Val) c.3451A>G (p.Ile1151Val) c.*3156A>G (n.*3156A>G) n.3302A>G c.*3234A>G (n.*3234A>G) n.393A>G c.3541A>G (p.Ile1181Val) c.3499A>G (p.Ile1167Val) c.3763A>G (p.Ile1255Val) c.3685A>G (p.Ile1229Val) c.3652A>G (p.Ile1218Val) c.3661A>G (p.Ile1221Val) c.2671A>G (p.Ile891Val) | ClinVar dbSNP |
1 | g.154584853T>G | CA342634519 | ADAR | c.3528A>C (n.3528A>C) c.3664A>C (p.Ile1222Leu) c.3517A>C (p.Ile1173Leu) c.3286A>C (p.Ile1096Leu) c.2749A>C (p.Ile917Leu) c.3634A>C (p.Ile1212Leu) n.2427A>C c.3556A>C (p.Ile1186Leu) n.3619A>C c.*1109A>C (n.*1109A>C) n.4370A>C c.*800A>C (n.*800A>C) c.*1866A>C (n.*1866A>C) n.4495A>C c.2692A>C (p.Ile898Leu) c.3451A>C (p.Ile1151Leu) c.*3156A>C (n.*3156A>C) n.3302A>C c.*3234A>C (n.*3234A>C) n.393A>C c.3541A>C (p.Ile1181Leu) c.3499A>C (p.Ile1167Leu) c.3763A>C (p.Ile1255Leu) c.3685A>C (p.Ile1229Leu) c.3652A>C (p.Ile1218Leu) c.3661A>C (p.Ile1221Leu) c.2671A>C (p.Ile891Leu) | |
1 | g.154584853T= | CA2480931189 | ADAR | c.3528A= (n.3528A=) c.3664A= (p.Ile1222=) c.3517A= (p.Ile1173=) c.3286A= (p.Ile1096=) c.2749A= (p.Ile917=) c.3634A= (p.Ile1212=) n.2427A= c.3556A= (p.Ile1186=) n.3619A= c.*1109A= (n.*1109A=) n.4370A= c.*800A= (n.*800A=) c.*1866A= (n.*1866A=) n.4495A= c.2692A= (p.Ile898=) c.3451A= (p.Ile1151=) c.*3156A= (n.*3156A=) n.3302A= c.*3234A= (n.*3234A=) n.393A= c.3541A= (p.Ile1181=) c.3499A= (p.Ile1167=) c.3763A= (p.Ile1255=) c.3685A= (p.Ile1229=) c.3652A= (p.Ile1218=) c.3661A= (p.Ile1221=) c.2671A= (p.Ile891=) | |
1 | g.154584854C>A | CA342634520 | ADAR | c.3527G>T (n.3527G>T) c.3663G>T (p.Trp1221Cys) c.3516G>T (p.Trp1172Cys) c.3285G>T (p.Trp1095Cys) c.2748G>T (p.Trp916Cys) c.3633G>T (p.Trp1211Cys) n.2426G>T c.3555G>T (p.Trp1185Cys) n.3618G>T c.*1108G>T (n.*1108G>T) n.4369G>T c.*799G>T (n.*799G>T) c.*1865G>T (n.*1865G>T) n.4494G>T c.2691G>T (p.Trp897Cys) c.3450G>T (p.Trp1150Cys) c.*3155G>T (n.*3155G>T) n.3301G>T c.*3233G>T (n.*3233G>T) n.392G>T c.3540G>T (p.Trp1180Cys) c.3498G>T (p.Trp1166Cys) c.3762G>T (p.Trp1254Cys) c.3684G>T (p.Trp1228Cys) c.3651G>T (p.Trp1217Cys) c.3660G>T (p.Trp1220Cys) c.2670G>T (p.Trp890Cys) | |
1 | g.154584854C>G | CA342634521 | ADAR | c.3527G>C (n.3527G>C) c.3663G>C (p.Trp1221Cys) c.3516G>C (p.Trp1172Cys) c.3285G>C (p.Trp1095Cys) c.2748G>C (p.Trp916Cys) c.3633G>C (p.Trp1211Cys) n.2426G>C c.3555G>C (p.Trp1185Cys) n.3618G>C c.*1108G>C (n.*1108G>C) n.4369G>C c.*799G>C (n.*799G>C) c.*1865G>C (n.*1865G>C) n.4494G>C c.2691G>C (p.Trp897Cys) c.3450G>C (p.Trp1150Cys) c.*3155G>C (n.*3155G>C) n.3301G>C c.*3233G>C (n.*3233G>C) n.392G>C c.3540G>C (p.Trp1180Cys) c.3498G>C (p.Trp1166Cys) c.3762G>C (p.Trp1254Cys) c.3684G>C (p.Trp1228Cys) c.3651G>C (p.Trp1217Cys) c.3660G>C (p.Trp1220Cys) c.2670G>C (p.Trp890Cys) | gnomAD v4 |
1 | g.154584854C>T | CA342634522 | ADAR | c.3527G>A (n.3527G>A) c.3663G>A (p.Trp1221Ter) c.3516G>A (p.Trp1172Ter) c.3285G>A (p.Trp1095Ter) c.2748G>A (p.Trp916Ter) c.3633G>A (p.Trp1211Ter) n.2426G>A c.3555G>A (p.Trp1185Ter) n.3618G>A c.*1108G>A (n.*1108G>A) n.4369G>A c.*799G>A (n.*799G>A) c.*1865G>A (n.*1865G>A) n.4494G>A c.2691G>A (p.Trp897Ter) c.3450G>A (p.Trp1150Ter) c.*3155G>A (n.*3155G>A) n.3301G>A c.*3233G>A (n.*3233G>A) n.392G>A c.3540G>A (p.Trp1180Ter) c.3498G>A (p.Trp1166Ter) c.3762G>A (p.Trp1254Ter) c.3684G>A (p.Trp1228Ter) c.3651G>A (p.Trp1217Ter) c.3660G>A (p.Trp1220Ter) c.2670G>A (p.Trp890Ter) | |
1 | g.154584855del | CA2740090375 | ADAR | c.3527del (n.3527del) c.3663del (p.Trp1221Ter) c.3516del (p.Trp1172Ter) c.3285del (p.Trp1095Ter) c.2748del (p.Trp916Ter) c.3633del (p.Trp1211Ter) n.2426del c.3555del (p.Trp1185Ter) n.3618del c.*1108del (n.*1108del) n.4369del c.*799del (n.*799del) c.*1865del (n.*1865del) n.4494del c.2691del (p.Trp897Ter) c.3450del (p.Trp1150Ter) c.*3155del (n.*3155del) n.3301del c.*3233del (n.*3233del) n.392del c.3540del (p.Trp1180Ter) c.3498del (p.Trp1166Ter) c.3762del (p.Trp1254Ter) c.3684del (p.Trp1228Ter) c.3651del (p.Trp1217Ter) c.3660del (p.Trp1220Ter) c.2670del (p.Trp890Ter) | ClinVar |
1 | g.154584855C>A | CA342634523 | ADAR | c.3526G>T (n.3526G>T) c.3662G>T (p.Trp1221Leu) c.3515G>T (p.Trp1172Leu) c.3284G>T (p.Trp1095Leu) c.2747G>T (p.Trp916Leu) c.3632G>T (p.Trp1211Leu) n.2425G>T c.3554G>T (p.Trp1185Leu) n.3617G>T c.*1107G>T (n.*1107G>T) n.4368G>T c.*798G>T (n.*798G>T) c.*1864G>T (n.*1864G>T) n.4493G>T c.2690G>T (p.Trp897Leu) c.3449G>T (p.Trp1150Leu) c.*3154G>T (n.*3154G>T) n.3300G>T c.*3232G>T (n.*3232G>T) n.391G>T c.3539G>T (p.Trp1180Leu) c.3497G>T (p.Trp1166Leu) c.3761G>T (p.Trp1254Leu) c.3683G>T (p.Trp1228Leu) c.3650G>T (p.Trp1217Leu) c.3659G>T (p.Trp1220Leu) c.2669G>T (p.Trp890Leu) | ClinVar dbSNP |
1 | g.154584855C>G | CA342634524 | ADAR | c.3526G>C (n.3526G>C) c.3662G>C (p.Trp1221Ser) c.3515G>C (p.Trp1172Ser) c.3284G>C (p.Trp1095Ser) c.2747G>C (p.Trp916Ser) c.3632G>C (p.Trp1211Ser) n.2425G>C c.3554G>C (p.Trp1185Ser) n.3617G>C c.*1107G>C (n.*1107G>C) n.4368G>C c.*798G>C (n.*798G>C) c.*1864G>C (n.*1864G>C) n.4493G>C c.2690G>C (p.Trp897Ser) c.3449G>C (p.Trp1150Ser) c.*3154G>C (n.*3154G>C) n.3300G>C c.*3232G>C (n.*3232G>C) n.391G>C c.3539G>C (p.Trp1180Ser) c.3497G>C (p.Trp1166Ser) c.3761G>C (p.Trp1254Ser) c.3683G>C (p.Trp1228Ser) c.3650G>C (p.Trp1217Ser) c.3659G>C (p.Trp1220Ser) c.2669G>C (p.Trp890Ser) | |
1 | g.154584855C>T | CA342634525 | ADAR | c.3526G>A (n.3526G>A) c.3662G>A (p.Trp1221Ter) c.3515G>A (p.Trp1172Ter) c.3284G>A (p.Trp1095Ter) c.2747G>A (p.Trp916Ter) c.3632G>A (p.Trp1211Ter) n.2425G>A c.3554G>A (p.Trp1185Ter) n.3617G>A c.*1107G>A (n.*1107G>A) n.4368G>A c.*798G>A (n.*798G>A) c.*1864G>A (n.*1864G>A) n.4493G>A c.2690G>A (p.Trp897Ter) c.3449G>A (p.Trp1150Ter) c.*3154G>A (n.*3154G>A) n.3300G>A c.*3232G>A (n.*3232G>A) n.391G>A c.3539G>A (p.Trp1180Ter) c.3497G>A (p.Trp1166Ter) c.3761G>A (p.Trp1254Ter) c.3683G>A (p.Trp1228Ter) c.3650G>A (p.Trp1217Ter) c.3659G>A (p.Trp1220Ter) c.2669G>A (p.Trp890Ter) | |
1 | g.154584856A>C | CA342634528 | ADAR | c.3525T>G (n.3525T>G) c.3661T>G (p.Trp1221Gly) c.3514T>G (p.Trp1172Gly) c.3283T>G (p.Trp1095Gly) c.2746T>G (p.Trp916Gly) c.3631T>G (p.Trp1211Gly) n.2424T>G c.3553T>G (p.Trp1185Gly) n.3616T>G c.*1106T>G (n.*1106T>G) n.4367T>G c.*797T>G (n.*797T>G) c.*1863T>G (n.*1863T>G) n.4492T>G c.2689T>G (p.Trp897Gly) c.3448T>G (p.Trp1150Gly) c.*3153T>G (n.*3153T>G) n.3299T>G c.*3231T>G (n.*3231T>G) n.390T>G c.3538T>G (p.Trp1180Gly) c.3496T>G (p.Trp1166Gly) c.3760T>G (p.Trp1254Gly) c.3682T>G (p.Trp1228Gly) c.3649T>G (p.Trp1217Gly) c.3658T>G (p.Trp1220Gly) c.2668T>G (p.Trp890Gly) | |
1 | g.154584856A>G | CA342634527 | ADAR | c.3525T>C (n.3525T>C) c.3661T>C (p.Trp1221Arg) c.3514T>C (p.Trp1172Arg) c.3283T>C (p.Trp1095Arg) c.2746T>C (p.Trp916Arg) c.3631T>C (p.Trp1211Arg) n.2424T>C c.3553T>C (p.Trp1185Arg) n.3616T>C c.*1106T>C (n.*1106T>C) n.4367T>C c.*797T>C (n.*797T>C) c.*1863T>C (n.*1863T>C) n.4492T>C c.2689T>C (p.Trp897Arg) c.3448T>C (p.Trp1150Arg) c.*3153T>C (n.*3153T>C) n.3299T>C c.*3231T>C (n.*3231T>C) n.390T>C c.3538T>C (p.Trp1180Arg) c.3496T>C (p.Trp1166Arg) c.3760T>C (p.Trp1254Arg) c.3682T>C (p.Trp1228Arg) c.3649T>C (p.Trp1217Arg) c.3658T>C (p.Trp1220Arg) c.2668T>C (p.Trp890Arg) | |
1 | g.154584856A>T | CA342634526 | ADAR | c.3525T>A (n.3525T>A) c.3661T>A (p.Trp1221Arg) c.3514T>A (p.Trp1172Arg) c.3283T>A (p.Trp1095Arg) c.2746T>A (p.Trp916Arg) c.3631T>A (p.Trp1211Arg) n.2424T>A c.3553T>A (p.Trp1185Arg) n.3616T>A c.*1106T>A (n.*1106T>A) n.4367T>A c.*797T>A (n.*797T>A) c.*1863T>A (n.*1863T>A) n.4492T>A c.2689T>A (p.Trp897Arg) c.3448T>A (p.Trp1150Arg) c.*3153T>A (n.*3153T>A) n.3299T>A c.*3231T>A (n.*3231T>A) n.390T>A c.3538T>A (p.Trp1180Arg) c.3496T>A (p.Trp1166Arg) c.3760T>A (p.Trp1254Arg) c.3682T>A (p.Trp1228Arg) c.3649T>A (p.Trp1217Arg) c.3658T>A (p.Trp1220Arg) c.2668T>A (p.Trp890Arg) | |
1 | g.154584857G>A | CA421231367 | ADAR | c.3524C>T (n.3524C>T) c.3660C>T (p.Asn1220=) c.3513C>T (p.Asn1171=) c.3282C>T (p.Asn1094=) c.2745C>T (p.Asn915=) c.3630C>T (p.Asn1210=) n.2423C>T c.3552C>T (p.Asn1184=) n.3615C>T c.*1105C>T (n.*1105C>T) n.4366C>T c.*796C>T (n.*796C>T) c.*1862C>T (n.*1862C>T) n.4491C>T c.2688C>T (p.Asn896=) c.3447C>T (p.Asn1149=) c.*3152C>T (n.*3152C>T) n.3298C>T c.*3230C>T (n.*3230C>T) n.389C>T c.3537C>T (p.Asn1179=) c.3495C>T (p.Asn1165=) c.3759C>T (p.Asn1253=) c.3681C>T (p.Asn1227=) c.3648C>T (p.Asn1216=) c.3657C>T (p.Asn1219=) c.2667C>T (p.Asn889=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154584857G>C | CA342634529 | ADAR | c.3524C>G (n.3524C>G) c.3660C>G (p.Asn1220Lys) c.3513C>G (p.Asn1171Lys) c.3282C>G (p.Asn1094Lys) c.2745C>G (p.Asn915Lys) c.3630C>G (p.Asn1210Lys) n.2423C>G c.3552C>G (p.Asn1184Lys) n.3615C>G c.*1105C>G (n.*1105C>G) n.4366C>G c.*796C>G (n.*796C>G) c.*1862C>G (n.*1862C>G) n.4491C>G c.2688C>G (p.Asn896Lys) c.3447C>G (p.Asn1149Lys) c.*3152C>G (n.*3152C>G) n.3298C>G c.*3230C>G (n.*3230C>G) n.389C>G c.3537C>G (p.Asn1179Lys) c.3495C>G (p.Asn1165Lys) c.3759C>G (p.Asn1253Lys) c.3681C>G (p.Asn1227Lys) c.3648C>G (p.Asn1216Lys) c.3657C>G (p.Asn1219Lys) c.2667C>G (p.Asn889Lys) | |
1 | g.154584857G= | CA2480931190 | ADAR | c.3524C= (n.3524C=) c.3660C= (p.Asn1220=) c.3513C= (p.Asn1171=) c.3282C= (p.Asn1094=) c.2745C= (p.Asn915=) c.3630C= (p.Asn1210=) n.2423C= c.3552C= (p.Asn1184=) n.3615C= c.*1105C= (n.*1105C=) n.4366C= c.*796C= (n.*796C=) c.*1862C= (n.*1862C=) n.4491C= c.2688C= (p.Asn896=) c.3447C= (p.Asn1149=) c.*3152C= (n.*3152C=) n.3298C= c.*3230C= (n.*3230C=) n.389C= c.3537C= (p.Asn1179=) c.3495C= (p.Asn1165=) c.3759C= (p.Asn1253=) c.3681C= (p.Asn1227=) c.3648C= (p.Asn1216=) c.3657C= (p.Asn1219=) c.2667C= (p.Asn889=) | |
1 | g.154584857G>T | CA342634530 | ADAR | c.3524C>A (n.3524C>A) c.3660C>A (p.Asn1220Lys) c.3513C>A (p.Asn1171Lys) c.3282C>A (p.Asn1094Lys) c.2745C>A (p.Asn915Lys) c.3630C>A (p.Asn1210Lys) n.2423C>A c.3552C>A (p.Asn1184Lys) n.3615C>A c.*1105C>A (n.*1105C>A) n.4366C>A c.*796C>A (n.*796C>A) c.*1862C>A (n.*1862C>A) n.4491C>A c.2688C>A (p.Asn896Lys) c.3447C>A (p.Asn1149Lys) c.*3152C>A (n.*3152C>A) n.3298C>A c.*3230C>A (n.*3230C>A) n.389C>A c.3537C>A (p.Asn1179Lys) c.3495C>A (p.Asn1165Lys) c.3759C>A (p.Asn1253Lys) c.3681C>A (p.Asn1227Lys) c.3648C>A (p.Asn1216Lys) c.3657C>A (p.Asn1219Lys) c.2667C>A (p.Asn889Lys) | |
1 | g.154584858T>A | CA342634531 | ADAR | c.3523A>T (n.3523A>T) c.3659A>T (p.Asn1220Ile) c.3512A>T (p.Asn1171Ile) c.3281A>T (p.Asn1094Ile) c.2744A>T (p.Asn915Ile) c.3629A>T (p.Asn1210Ile) n.2422A>T c.3551A>T (p.Asn1184Ile) n.3614A>T c.*1104A>T (n.*1104A>T) n.4365A>T c.*795A>T (n.*795A>T) c.*1861A>T (n.*1861A>T) n.4490A>T c.2687A>T (p.Asn896Ile) c.3446A>T (p.Asn1149Ile) c.*3151A>T (n.*3151A>T) n.3297A>T c.*3229A>T (n.*3229A>T) n.388A>T c.3536A>T (p.Asn1179Ile) c.3494A>T (p.Asn1165Ile) c.3758A>T (p.Asn1253Ile) c.3680A>T (p.Asn1227Ile) c.3647A>T (p.Asn1216Ile) c.3656A>T (p.Asn1219Ile) c.2666A>T (p.Asn889Ile) | |
1 | g.154584858T>C | CA342634532 | ADAR | c.3523A>G (n.3523A>G) c.3659A>G (p.Asn1220Ser) c.3512A>G (p.Asn1171Ser) c.3281A>G (p.Asn1094Ser) c.2744A>G (p.Asn915Ser) c.3629A>G (p.Asn1210Ser) n.2422A>G c.3551A>G (p.Asn1184Ser) n.3614A>G c.*1104A>G (n.*1104A>G) n.4365A>G c.*795A>G (n.*795A>G) c.*1861A>G (n.*1861A>G) n.4490A>G c.2687A>G (p.Asn896Ser) c.3446A>G (p.Asn1149Ser) c.*3151A>G (n.*3151A>G) n.3297A>G c.*3229A>G (n.*3229A>G) n.388A>G c.3536A>G (p.Asn1179Ser) c.3494A>G (p.Asn1165Ser) c.3758A>G (p.Asn1253Ser) c.3680A>G (p.Asn1227Ser) c.3647A>G (p.Asn1216Ser) c.3656A>G (p.Asn1219Ser) c.2666A>G (p.Asn889Ser) | ClinVar |
1 | g.154584858T>G | CA342634533 | ADAR | c.3523A>C (n.3523A>C) c.3659A>C (p.Asn1220Thr) c.3512A>C (p.Asn1171Thr) c.3281A>C (p.Asn1094Thr) c.2744A>C (p.Asn915Thr) c.3629A>C (p.Asn1210Thr) n.2422A>C c.3551A>C (p.Asn1184Thr) n.3614A>C c.*1104A>C (n.*1104A>C) n.4365A>C c.*795A>C (n.*795A>C) c.*1861A>C (n.*1861A>C) n.4490A>C c.2687A>C (p.Asn896Thr) c.3446A>C (p.Asn1149Thr) c.*3151A>C (n.*3151A>C) n.3297A>C c.*3229A>C (n.*3229A>C) n.388A>C c.3536A>C (p.Asn1179Thr) c.3494A>C (p.Asn1165Thr) c.3758A>C (p.Asn1253Thr) c.3680A>C (p.Asn1227Thr) c.3647A>C (p.Asn1216Thr) c.3656A>C (p.Asn1219Thr) c.2666A>C (p.Asn889Thr) | |
1 | g.154584859T>A | CA342634534 | ADAR | c.3522A>T (n.3522A>T) c.3658A>T (p.Asn1220Tyr) c.3511A>T (p.Asn1171Tyr) c.3280A>T (p.Asn1094Tyr) c.2743A>T (p.Asn915Tyr) c.3628A>T (p.Asn1210Tyr) n.2421A>T c.3550A>T (p.Asn1184Tyr) n.3613A>T c.*1103A>T (n.*1103A>T) n.4364A>T c.*794A>T (n.*794A>T) c.*1860A>T (n.*1860A>T) n.4489A>T c.2686A>T (p.Asn896Tyr) c.3445A>T (p.Asn1149Tyr) c.*3150A>T (n.*3150A>T) n.3296A>T c.*3228A>T (n.*3228A>T) n.387A>T c.3535A>T (p.Asn1179Tyr) c.3493A>T (p.Asn1165Tyr) c.3757A>T (p.Asn1253Tyr) c.3679A>T (p.Asn1227Tyr) c.3646A>T (p.Asn1216Tyr) c.3655A>T (p.Asn1219Tyr) c.2665A>T (p.Asn889Tyr) | gnomAD v4 |
1 | g.154584859T>C | CA342634535 | ADAR | c.3522A>G (n.3522A>G) c.3658A>G (p.Asn1220Asp) c.3511A>G (p.Asn1171Asp) c.3280A>G (p.Asn1094Asp) c.2743A>G (p.Asn915Asp) c.3628A>G (p.Asn1210Asp) n.2421A>G c.3550A>G (p.Asn1184Asp) n.3613A>G c.*1103A>G (n.*1103A>G) n.4364A>G c.*794A>G (n.*794A>G) c.*1860A>G (n.*1860A>G) n.4489A>G c.2686A>G (p.Asn896Asp) c.3445A>G (p.Asn1149Asp) c.*3150A>G (n.*3150A>G) n.3296A>G c.*3228A>G (n.*3228A>G) n.387A>G c.3535A>G (p.Asn1179Asp) c.3493A>G (p.Asn1165Asp) c.3757A>G (p.Asn1253Asp) c.3679A>G (p.Asn1227Asp) c.3646A>G (p.Asn1216Asp) c.3655A>G (p.Asn1219Asp) c.2665A>G (p.Asn889Asp) | |
1 | g.154584859T>G | CA342634536 | ADAR | c.3522A>C (n.3522A>C) c.3658A>C (p.Asn1220His) c.3511A>C (p.Asn1171His) c.3280A>C (p.Asn1094His) c.2743A>C (p.Asn915His) c.3628A>C (p.Asn1210His) n.2421A>C c.3550A>C (p.Asn1184His) n.3613A>C c.*1103A>C (n.*1103A>C) n.4364A>C c.*794A>C (n.*794A>C) c.*1860A>C (n.*1860A>C) n.4489A>C c.2686A>C (p.Asn896His) c.3445A>C (p.Asn1149His) c.*3150A>C (n.*3150A>C) n.3296A>C c.*3228A>C (n.*3228A>C) n.387A>C c.3535A>C (p.Asn1179His) c.3493A>C (p.Asn1165His) c.3757A>C (p.Asn1253His) c.3679A>C (p.Asn1227His) c.3646A>C (p.Asn1216His) c.3655A>C (p.Asn1219His) c.2665A>C (p.Asn889His) | |
1 | g.154584860C>A | CA421231372 | ADAR | c.3521G>T (n.3521G>T) c.3657G>T (p.Gly1219=) c.3510G>T (p.Gly1170=) c.3279G>T (p.Gly1093=) c.2742G>T (p.Gly914=) c.3627G>T (p.Gly1209=) n.2420G>T c.3549G>T (p.Gly1183=) n.3612G>T c.*1102G>T (n.*1102G>T) n.4363G>T c.*793G>T (n.*793G>T) c.*1859G>T (n.*1859G>T) n.4488G>T c.2685G>T (p.Gly895=) c.3444G>T (p.Gly1148=) c.*3149G>T (n.*3149G>T) n.3295G>T c.*3227G>T (n.*3227G>T) n.386G>T c.3534G>T (p.Gly1178=) c.3492G>T (p.Gly1164=) c.3756G>T (p.Gly1252=) c.3678G>T (p.Gly1226=) c.3645G>T (p.Gly1215=) c.3654G>T (p.Gly1218=) c.2664G>T (p.Gly888=) | COSMIC |
1 | g.154584860C>G | CA421231373 | ADAR | c.3521G>C (n.3521G>C) c.3657G>C (p.Gly1219=) c.3510G>C (p.Gly1170=) c.3279G>C (p.Gly1093=) c.2742G>C (p.Gly914=) c.3627G>C (p.Gly1209=) n.2420G>C c.3549G>C (p.Gly1183=) n.3612G>C c.*1102G>C (n.*1102G>C) n.4363G>C c.*793G>C (n.*793G>C) c.*1859G>C (n.*1859G>C) n.4488G>C c.2685G>C (p.Gly895=) c.3444G>C (p.Gly1148=) c.*3149G>C (n.*3149G>C) n.3295G>C c.*3227G>C (n.*3227G>C) n.386G>C c.3534G>C (p.Gly1178=) c.3492G>C (p.Gly1164=) c.3756G>C (p.Gly1252=) c.3678G>C (p.Gly1226=) c.3645G>C (p.Gly1215=) c.3654G>C (p.Gly1218=) c.2664G>C (p.Gly888=) | ClinVar gnomAD v4 |
1 | g.154584860C>T | CA421231374 | ADAR | c.3521G>A (n.3521G>A) c.3657G>A (p.Gly1219=) c.3510G>A (p.Gly1170=) c.3279G>A (p.Gly1093=) c.2742G>A (p.Gly914=) c.3627G>A (p.Gly1209=) n.2420G>A c.3549G>A (p.Gly1183=) n.3612G>A c.*1102G>A (n.*1102G>A) n.4363G>A c.*793G>A (n.*793G>A) c.*1859G>A (n.*1859G>A) n.4488G>A c.2685G>A (p.Gly895=) c.3444G>A (p.Gly1148=) c.*3149G>A (n.*3149G>A) n.3295G>A c.*3227G>A (n.*3227G>A) n.386G>A c.3534G>A (p.Gly1178=) c.3492G>A (p.Gly1164=) c.3756G>A (p.Gly1252=) c.3678G>A (p.Gly1226=) c.3645G>A (p.Gly1215=) c.3654G>A (p.Gly1218=) c.2664G>A (p.Gly888=) | gnomAD v4 |
1 | g.154584861C>A | CA342634537 | ADAR | c.3520G>T (n.3520G>T) c.3656G>T (p.Gly1219Val) c.3509G>T (p.Gly1170Val) c.3278G>T (p.Gly1093Val) c.2741G>T (p.Gly914Val) c.3626G>T (p.Gly1209Val) n.2419G>T c.3548G>T (p.Gly1183Val) n.3611G>T c.*1101G>T (n.*1101G>T) n.4362G>T c.*792G>T (n.*792G>T) c.*1858G>T (n.*1858G>T) n.4487G>T c.2684G>T (p.Gly895Val) c.3443G>T (p.Gly1148Val) c.*3148G>T (n.*3148G>T) n.3294G>T c.*3226G>T (n.*3226G>T) n.385G>T c.3533G>T (p.Gly1178Val) c.3491G>T (p.Gly1164Val) c.3755G>T (p.Gly1252Val) c.3677G>T (p.Gly1226Val) c.3644G>T (p.Gly1215Val) c.3653G>T (p.Gly1218Val) c.2663G>T (p.Gly888Val) | |
1 | g.154584861C>G | CA342634538 | ADAR | c.3520G>C (n.3520G>C) c.3656G>C (p.Gly1219Ala) c.3509G>C (p.Gly1170Ala) c.3278G>C (p.Gly1093Ala) c.2741G>C (p.Gly914Ala) c.3626G>C (p.Gly1209Ala) n.2419G>C c.3548G>C (p.Gly1183Ala) n.3611G>C c.*1101G>C (n.*1101G>C) n.4362G>C c.*792G>C (n.*792G>C) c.*1858G>C (n.*1858G>C) n.4487G>C c.2684G>C (p.Gly895Ala) c.3443G>C (p.Gly1148Ala) c.*3148G>C (n.*3148G>C) n.3294G>C c.*3226G>C (n.*3226G>C) n.385G>C c.3533G>C (p.Gly1178Ala) c.3491G>C (p.Gly1164Ala) c.3755G>C (p.Gly1252Ala) c.3677G>C (p.Gly1226Ala) c.3644G>C (p.Gly1215Ala) c.3653G>C (p.Gly1218Ala) c.2663G>C (p.Gly888Ala) | |
1 | g.154584861C>T | CA342634539 | ADAR | c.3520G>A (n.3520G>A) c.3656G>A (p.Gly1219Glu) c.3509G>A (p.Gly1170Glu) c.3278G>A (p.Gly1093Glu) c.2741G>A (p.Gly914Glu) c.3626G>A (p.Gly1209Glu) n.2419G>A c.3548G>A (p.Gly1183Glu) n.3611G>A c.*1101G>A (n.*1101G>A) n.4362G>A c.*792G>A (n.*792G>A) c.*1858G>A (n.*1858G>A) n.4487G>A c.2684G>A (p.Gly895Glu) c.3443G>A (p.Gly1148Glu) c.*3148G>A (n.*3148G>A) n.3294G>A c.*3226G>A (n.*3226G>A) n.385G>A c.3533G>A (p.Gly1178Glu) c.3491G>A (p.Gly1164Glu) c.3755G>A (p.Gly1252Glu) c.3677G>A (p.Gly1226Glu) c.3644G>A (p.Gly1215Glu) c.3653G>A (p.Gly1218Glu) c.2663G>A (p.Gly888Glu) | |
1 | g.154584862C>A | CA342634540 | ADAR | c.3519G>T (n.3519G>T) c.3655G>T (p.Gly1219Trp) c.3508G>T (p.Gly1170Trp) c.3277G>T (p.Gly1093Trp) c.2740G>T (p.Gly914Trp) c.3625G>T (p.Gly1209Trp) n.2418G>T c.3547G>T (p.Gly1183Trp) n.3610G>T c.*1100G>T (n.*1100G>T) n.4361G>T c.*791G>T (n.*791G>T) c.*1857G>T (n.*1857G>T) n.4486G>T c.2683G>T (p.Gly895Trp) c.3442G>T (p.Gly1148Trp) c.*3147G>T (n.*3147G>T) n.3293G>T c.*3225G>T (n.*3225G>T) n.384G>T c.3532G>T (p.Gly1178Trp) c.3490G>T (p.Gly1164Trp) c.3754G>T (p.Gly1252Trp) c.3676G>T (p.Gly1226Trp) c.3643G>T (p.Gly1215Trp) c.3652G>T (p.Gly1218Trp) c.2662G>T (p.Gly888Trp) | COSMIC COSMIC |
1 | g.154584862C>G | CA342634541 | ADAR | c.3519G>C (n.3519G>C) c.3655G>C (p.Gly1219Arg) c.3508G>C (p.Gly1170Arg) c.3277G>C (p.Gly1093Arg) c.2740G>C (p.Gly914Arg) c.3625G>C (p.Gly1209Arg) n.2418G>C c.3547G>C (p.Gly1183Arg) n.3610G>C c.*1100G>C (n.*1100G>C) n.4361G>C c.*791G>C (n.*791G>C) c.*1857G>C (n.*1857G>C) n.4486G>C c.2683G>C (p.Gly895Arg) c.3442G>C (p.Gly1148Arg) c.*3147G>C (n.*3147G>C) n.3293G>C c.*3225G>C (n.*3225G>C) n.384G>C c.3532G>C (p.Gly1178Arg) c.3490G>C (p.Gly1164Arg) c.3754G>C (p.Gly1252Arg) c.3676G>C (p.Gly1226Arg) c.3643G>C (p.Gly1215Arg) c.3652G>C (p.Gly1218Arg) c.2662G>C (p.Gly888Arg) | |
1 | g.154584862C>T | CA342634542 | ADAR | c.3519G>A (n.3519G>A) c.3655G>A (p.Gly1219Arg) c.3508G>A (p.Gly1170Arg) c.3277G>A (p.Gly1093Arg) c.2740G>A (p.Gly914Arg) c.3625G>A (p.Gly1209Arg) n.2418G>A c.3547G>A (p.Gly1183Arg) n.3610G>A c.*1100G>A (n.*1100G>A) n.4361G>A c.*791G>A (n.*791G>A) c.*1857G>A (n.*1857G>A) n.4486G>A c.2683G>A (p.Gly895Arg) c.3442G>A (p.Gly1148Arg) c.*3147G>A (n.*3147G>A) n.3293G>A c.*3225G>A (n.*3225G>A) n.384G>A c.3532G>A (p.Gly1178Arg) c.3490G>A (p.Gly1164Arg) c.3754G>A (p.Gly1252Arg) c.3676G>A (p.Gly1226Arg) c.3643G>A (p.Gly1215Arg) c.3652G>A (p.Gly1218Arg) c.2662G>A (p.Gly888Arg) | |
1 | g.154584862_154584863delinsCA | CA2480931191 | ADAR | c.3518_3519delinsTG (n.3518_3519delinsTG) c.3654_3655delinsTG (p.Tyr1218=) c.3507_3508delinsTG (p.Tyr1169=) c.3276_3277delinsTG (p.Tyr1092=) c.2739_2740delinsTG (p.Tyr913=) c.3624_3625delinsTG (p.Tyr1208=) n.2417_2418delinsTG c.3546_3547delinsTG (p.Tyr1182=) n.3609_3610delinsTG c.*1099_*1100delinsTG (n.*1099_*1100delinsTG) n.4360_4361delinsTG c.*790_*791delinsTG (n.*790_*791delinsTG) c.*1856_*1857delinsTG (n.*1856_*1857delinsTG) n.4485_4486delinsTG c.2682_2683delinsTG (p.Tyr894=) c.3441_3442delinsTG (p.Tyr1147=) c.*3146_*3147delinsTG (n.*3146_*3147delinsTG) n.3292_3293delinsTG c.*3224_*3225delinsTG (n.*3224_*3225delinsTG) n.383_384delinsTG c.3531_3532delinsTG (p.Tyr1177=) c.3489_3490delinsTG (p.Tyr1163=) c.3753_3754delinsTG (p.Tyr1251=) c.3675_3676delinsTG (p.Tyr1225=) c.3642_3643delinsTG (p.Tyr1214=) c.3651_3652delinsTG (p.Tyr1217=) c.2661_2662delinsTG (p.Tyr887=) | |
1 | g.154584863del | CA526666211 | ADAR | c.3518del (n.3518del) c.3654del (p.Tyr1218Ter) c.3507del (p.Tyr1169Ter) c.3276del (p.Tyr1092Ter) c.2739del (p.Tyr913Ter) c.3624del (p.Tyr1208Ter) n.2417del c.3546del (p.Tyr1182Ter) n.3609del c.*1099del (n.*1099del) n.4360del c.*790del (n.*790del) c.*1856del (n.*1856del) n.4485del c.2682del (p.Tyr894Ter) c.3441del (p.Tyr1147Ter) c.*3146del (n.*3146del) n.3292del c.*3224del (n.*3224del) n.383del c.3531del (p.Tyr1177Ter) c.3489del (p.Tyr1163Ter) c.3753del (p.Tyr1251Ter) c.3675del (p.Tyr1225Ter) c.3642del (p.Tyr1214Ter) c.3651del (p.Tyr1217Ter) c.2661del (p.Tyr887Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584863A>C | CA342634543 | ADAR | c.3518T>G (n.3518T>G) c.3654T>G (p.Tyr1218Ter) c.3507T>G (p.Tyr1169Ter) c.3276T>G (p.Tyr1092Ter) c.2739T>G (p.Tyr913Ter) c.3624T>G (p.Tyr1208Ter) n.2417T>G c.3546T>G (p.Tyr1182Ter) n.3609T>G c.*1099T>G (n.*1099T>G) n.4360T>G c.*790T>G (n.*790T>G) c.*1856T>G (n.*1856T>G) n.4485T>G c.2682T>G (p.Tyr894Ter) c.3441T>G (p.Tyr1147Ter) c.*3146T>G (n.*3146T>G) n.3292T>G c.*3224T>G (n.*3224T>G) n.383T>G c.3531T>G (p.Tyr1177Ter) c.3489T>G (p.Tyr1163Ter) c.3753T>G (p.Tyr1251Ter) c.3675T>G (p.Tyr1225Ter) c.3642T>G (p.Tyr1214Ter) c.3651T>G (p.Tyr1217Ter) c.2661T>G (p.Tyr887Ter) | |
1 | g.154584863A>G | CA421231378 | ADAR | c.3518T>C (n.3518T>C) c.3654T>C (p.Tyr1218=) c.3507T>C (p.Tyr1169=) c.3276T>C (p.Tyr1092=) c.2739T>C (p.Tyr913=) c.3624T>C (p.Tyr1208=) n.2417T>C c.3546T>C (p.Tyr1182=) n.3609T>C c.*1099T>C (n.*1099T>C) n.4360T>C c.*790T>C (n.*790T>C) c.*1856T>C (n.*1856T>C) n.4485T>C c.2682T>C (p.Tyr894=) c.3441T>C (p.Tyr1147=) c.*3146T>C (n.*3146T>C) n.3292T>C c.*3224T>C (n.*3224T>C) n.383T>C c.3531T>C (p.Tyr1177=) c.3489T>C (p.Tyr1163=) c.3753T>C (p.Tyr1251=) c.3675T>C (p.Tyr1225=) c.3642T>C (p.Tyr1214=) c.3651T>C (p.Tyr1217=) c.2661T>C (p.Tyr887=) | gnomAD v4 |
1 | g.154584863A>T | CA342634544 | ADAR | c.3518T>A (n.3518T>A) c.3654T>A (p.Tyr1218Ter) c.3507T>A (p.Tyr1169Ter) c.3276T>A (p.Tyr1092Ter) c.2739T>A (p.Tyr913Ter) c.3624T>A (p.Tyr1208Ter) n.2417T>A c.3546T>A (p.Tyr1182Ter) n.3609T>A c.*1099T>A (n.*1099T>A) n.4360T>A c.*790T>A (n.*790T>A) c.*1856T>A (n.*1856T>A) n.4485T>A c.2682T>A (p.Tyr894Ter) c.3441T>A (p.Tyr1147Ter) c.*3146T>A (n.*3146T>A) n.3292T>A c.*3224T>A (n.*3224T>A) n.383T>A c.3531T>A (p.Tyr1177Ter) c.3489T>A (p.Tyr1163Ter) c.3753T>A (p.Tyr1251Ter) c.3675T>A (p.Tyr1225Ter) c.3642T>A (p.Tyr1214Ter) c.3651T>A (p.Tyr1217Ter) c.2661T>A (p.Tyr887Ter) | |
1 | g.154584864T>A | CA342634545 | ADAR | c.3517A>T (n.3517A>T) c.3653A>T (p.Tyr1218Phe) c.3506A>T (p.Tyr1169Phe) c.3275A>T (p.Tyr1092Phe) c.2738A>T (p.Tyr913Phe) c.3623A>T (p.Tyr1208Phe) n.2416A>T c.3545A>T (p.Tyr1182Phe) n.3608A>T c.*1098A>T (n.*1098A>T) n.4359A>T c.*789A>T (n.*789A>T) c.*1855A>T (n.*1855A>T) n.4484A>T c.2681A>T (p.Tyr894Phe) c.3440A>T (p.Tyr1147Phe) c.*3145A>T (n.*3145A>T) n.3291A>T c.*3223A>T (n.*3223A>T) n.382A>T c.3530A>T (p.Tyr1177Phe) c.3488A>T (p.Tyr1163Phe) c.3752A>T (p.Tyr1251Phe) c.3674A>T (p.Tyr1225Phe) c.3641A>T (p.Tyr1214Phe) c.3650A>T (p.Tyr1217Phe) c.2660A>T (p.Tyr887Phe) | |
1 | g.154584864T>C | CA342634546 | ADAR | c.3517A>G (n.3517A>G) c.3653A>G (p.Tyr1218Cys) c.3506A>G (p.Tyr1169Cys) c.3275A>G (p.Tyr1092Cys) c.2738A>G (p.Tyr913Cys) c.3623A>G (p.Tyr1208Cys) n.2416A>G c.3545A>G (p.Tyr1182Cys) n.3608A>G c.*1098A>G (n.*1098A>G) n.4359A>G c.*789A>G (n.*789A>G) c.*1855A>G (n.*1855A>G) n.4484A>G c.2681A>G (p.Tyr894Cys) c.3440A>G (p.Tyr1147Cys) c.*3145A>G (n.*3145A>G) n.3291A>G c.*3223A>G (n.*3223A>G) n.382A>G c.3530A>G (p.Tyr1177Cys) c.3488A>G (p.Tyr1163Cys) c.3752A>G (p.Tyr1251Cys) c.3674A>G (p.Tyr1225Cys) c.3641A>G (p.Tyr1214Cys) c.3650A>G (p.Tyr1217Cys) c.2660A>G (p.Tyr887Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.154584864T>G | CA342634547 | ADAR | c.3517A>C (n.3517A>C) c.3653A>C (p.Tyr1218Ser) c.3506A>C (p.Tyr1169Ser) c.3275A>C (p.Tyr1092Ser) c.2738A>C (p.Tyr913Ser) c.3623A>C (p.Tyr1208Ser) n.2416A>C c.3545A>C (p.Tyr1182Ser) n.3608A>C c.*1098A>C (n.*1098A>C) n.4359A>C c.*789A>C (n.*789A>C) c.*1855A>C (n.*1855A>C) n.4484A>C c.2681A>C (p.Tyr894Ser) c.3440A>C (p.Tyr1147Ser) c.*3145A>C (n.*3145A>C) n.3291A>C c.*3223A>C (n.*3223A>C) n.382A>C c.3530A>C (p.Tyr1177Ser) c.3488A>C (p.Tyr1163Ser) c.3752A>C (p.Tyr1251Ser) c.3674A>C (p.Tyr1225Ser) c.3641A>C (p.Tyr1214Ser) c.3650A>C (p.Tyr1217Ser) c.2660A>C (p.Tyr887Ser) | |
1 | g.154584865A>C | CA342634548 | ADAR | c.3516T>G (n.3516T>G) c.3652T>G (p.Tyr1218Asp) c.3505T>G (p.Tyr1169Asp) c.3274T>G (p.Tyr1092Asp) c.2737T>G (p.Tyr913Asp) c.3622T>G (p.Tyr1208Asp) n.2415T>G c.3544T>G (p.Tyr1182Asp) n.3607T>G c.*1097T>G (n.*1097T>G) n.4358T>G c.*788T>G (n.*788T>G) c.*1854T>G (n.*1854T>G) n.4483T>G c.2680T>G (p.Tyr894Asp) c.3439T>G (p.Tyr1147Asp) c.*3144T>G (n.*3144T>G) n.3290T>G c.*3222T>G (n.*3222T>G) n.381T>G c.3529T>G (p.Tyr1177Asp) c.3487T>G (p.Tyr1163Asp) c.3751T>G (p.Tyr1251Asp) c.3673T>G (p.Tyr1225Asp) c.3640T>G (p.Tyr1214Asp) c.3649T>G (p.Tyr1217Asp) c.2659T>G (p.Tyr887Asp) | |
1 | g.154584865A>G | CA342634549 | ADAR | c.3516T>C (n.3516T>C) c.3652T>C (p.Tyr1218His) c.3505T>C (p.Tyr1169His) c.3274T>C (p.Tyr1092His) c.2737T>C (p.Tyr913His) c.3622T>C (p.Tyr1208His) n.2415T>C c.3544T>C (p.Tyr1182His) n.3607T>C c.*1097T>C (n.*1097T>C) n.4358T>C c.*788T>C (n.*788T>C) c.*1854T>C (n.*1854T>C) n.4483T>C c.2680T>C (p.Tyr894His) c.3439T>C (p.Tyr1147His) c.*3144T>C (n.*3144T>C) n.3290T>C c.*3222T>C (n.*3222T>C) n.381T>C c.3529T>C (p.Tyr1177His) c.3487T>C (p.Tyr1163His) c.3751T>C (p.Tyr1251His) c.3673T>C (p.Tyr1225His) c.3640T>C (p.Tyr1214His) c.3649T>C (p.Tyr1217His) c.2659T>C (p.Tyr887His) | |
1 | g.154584865A>T | CA342634550 | ADAR | c.3516T>A (n.3516T>A) c.3652T>A (p.Tyr1218Asn) c.3505T>A (p.Tyr1169Asn) c.3274T>A (p.Tyr1092Asn) c.2737T>A (p.Tyr913Asn) c.3622T>A (p.Tyr1208Asn) n.2415T>A c.3544T>A (p.Tyr1182Asn) n.3607T>A c.*1097T>A (n.*1097T>A) n.4358T>A c.*788T>A (n.*788T>A) c.*1854T>A (n.*1854T>A) n.4483T>A c.2680T>A (p.Tyr894Asn) c.3439T>A (p.Tyr1147Asn) c.*3144T>A (n.*3144T>A) n.3290T>A c.*3222T>A (n.*3222T>A) n.381T>A c.3529T>A (p.Tyr1177Asn) c.3487T>A (p.Tyr1163Asn) c.3751T>A (p.Tyr1251Asn) c.3673T>A (p.Tyr1225Asn) c.3640T>A (p.Tyr1214Asn) c.3649T>A (p.Tyr1217Asn) c.2659T>A (p.Tyr887Asn) | |
1 | g.154584866G>A | CA421231383 | ADAR | c.3515C>T (n.3515C>T) c.3651C>T (p.Gly1217=) c.3504C>T (p.Gly1168=) c.3273C>T (p.Gly1091=) c.2736C>T (p.Gly912=) c.3621C>T (p.Gly1207=) n.2414C>T c.3543C>T (p.Gly1181=) n.3606C>T c.*1096C>T (n.*1096C>T) n.4357C>T c.*787C>T (n.*787C>T) c.*1853C>T (n.*1853C>T) n.4482C>T c.2679C>T (p.Gly893=) c.3438C>T (p.Gly1146=) c.*3143C>T (n.*3143C>T) n.3289C>T c.*3221C>T (n.*3221C>T) n.380C>T c.3528C>T (p.Gly1176=) c.3486C>T (p.Gly1162=) c.3750C>T (p.Gly1250=) c.3672C>T (p.Gly1224=) c.3639C>T (p.Gly1213=) c.3648C>T (p.Gly1216=) c.2658C>T (p.Gly886=) | |
1 | g.154584866G>C | CA421231385 | ADAR | c.3515C>G (n.3515C>G) c.3651C>G (p.Gly1217=) c.3504C>G (p.Gly1168=) c.3273C>G (p.Gly1091=) c.2736C>G (p.Gly912=) c.3621C>G (p.Gly1207=) n.2414C>G c.3543C>G (p.Gly1181=) n.3606C>G c.*1096C>G (n.*1096C>G) n.4357C>G c.*787C>G (n.*787C>G) c.*1853C>G (n.*1853C>G) n.4482C>G c.2679C>G (p.Gly893=) c.3438C>G (p.Gly1146=) c.*3143C>G (n.*3143C>G) n.3289C>G c.*3221C>G (n.*3221C>G) n.380C>G c.3528C>G (p.Gly1176=) c.3486C>G (p.Gly1162=) c.3750C>G (p.Gly1250=) c.3672C>G (p.Gly1224=) c.3639C>G (p.Gly1213=) c.3648C>G (p.Gly1216=) c.2658C>G (p.Gly886=) | |
1 | g.154584866G>T | CA421231387 | ADAR | c.3515C>A (n.3515C>A) c.3651C>A (p.Gly1217=) c.3504C>A (p.Gly1168=) c.3273C>A (p.Gly1091=) c.2736C>A (p.Gly912=) c.3621C>A (p.Gly1207=) n.2414C>A c.3543C>A (p.Gly1181=) n.3606C>A c.*1096C>A (n.*1096C>A) n.4357C>A c.*787C>A (n.*787C>A) c.*1853C>A (n.*1853C>A) n.4482C>A c.2679C>A (p.Gly893=) c.3438C>A (p.Gly1146=) c.*3143C>A (n.*3143C>A) n.3289C>A c.*3221C>A (n.*3221C>A) n.380C>A c.3528C>A (p.Gly1176=) c.3486C>A (p.Gly1162=) c.3750C>A (p.Gly1250=) c.3672C>A (p.Gly1224=) c.3639C>A (p.Gly1213=) c.3648C>A (p.Gly1216=) c.2658C>A (p.Gly886=) | |
1 | g.154584867C>A | CA342634551 | ADAR | c.3514G>T (n.3514G>T) c.3650G>T (p.Gly1217Val) c.3503G>T (p.Gly1168Val) c.3272G>T (p.Gly1091Val) c.2735G>T (p.Gly912Val) c.3620G>T (p.Gly1207Val) n.2413G>T c.3542G>T (p.Gly1181Val) n.3605G>T c.*1095G>T (n.*1095G>T) n.4356G>T c.*786G>T (n.*786G>T) c.*1852G>T (n.*1852G>T) n.4481G>T c.2678G>T (p.Gly893Val) c.3437G>T (p.Gly1146Val) c.*3142G>T (n.*3142G>T) n.3288G>T c.*3220G>T (n.*3220G>T) n.379G>T c.3527G>T (p.Gly1176Val) c.3485G>T (p.Gly1162Val) c.3749G>T (p.Gly1250Val) c.3671G>T (p.Gly1224Val) c.3638G>T (p.Gly1213Val) c.3647G>T (p.Gly1216Val) c.2657G>T (p.Gly886Val) | |
1 | g.154584867C>G | CA342634552 | ADAR | c.3514G>C (n.3514G>C) c.3650G>C (p.Gly1217Ala) c.3503G>C (p.Gly1168Ala) c.3272G>C (p.Gly1091Ala) c.2735G>C (p.Gly912Ala) c.3620G>C (p.Gly1207Ala) n.2413G>C c.3542G>C (p.Gly1181Ala) n.3605G>C c.*1095G>C (n.*1095G>C) n.4356G>C c.*786G>C (n.*786G>C) c.*1852G>C (n.*1852G>C) n.4481G>C c.2678G>C (p.Gly893Ala) c.3437G>C (p.Gly1146Ala) c.*3142G>C (n.*3142G>C) n.3288G>C c.*3220G>C (n.*3220G>C) n.379G>C c.3527G>C (p.Gly1176Ala) c.3485G>C (p.Gly1162Ala) c.3749G>C (p.Gly1250Ala) c.3671G>C (p.Gly1224Ala) c.3638G>C (p.Gly1213Ala) c.3647G>C (p.Gly1216Ala) c.2657G>C (p.Gly886Ala) | |
1 | g.154584867C>T | CA342634553 | ADAR | c.3514G>A (n.3514G>A) c.3650G>A (p.Gly1217Asp) c.3503G>A (p.Gly1168Asp) c.3272G>A (p.Gly1091Asp) c.2735G>A (p.Gly912Asp) c.3620G>A (p.Gly1207Asp) n.2413G>A c.3542G>A (p.Gly1181Asp) n.3605G>A c.*1095G>A (n.*1095G>A) n.4356G>A c.*786G>A (n.*786G>A) c.*1852G>A (n.*1852G>A) n.4481G>A c.2678G>A (p.Gly893Asp) c.3437G>A (p.Gly1146Asp) c.*3142G>A (n.*3142G>A) n.3288G>A c.*3220G>A (n.*3220G>A) n.379G>A c.3527G>A (p.Gly1176Asp) c.3485G>A (p.Gly1162Asp) c.3749G>A (p.Gly1250Asp) c.3671G>A (p.Gly1224Asp) c.3638G>A (p.Gly1213Asp) c.3647G>A (p.Gly1216Asp) c.2657G>A (p.Gly886Asp) | |
1 | g.154584869dup | CA2586967333 | ADAR | c.3514dup (n.3514dup) c.3650dup (p.Tyr1218LeufsTer6) c.3503dup (p.Tyr1169LeufsTer6) c.3272dup (p.Tyr1092LeufsTer6) c.2735dup (p.Tyr913LeufsTer6) c.3620dup (p.Tyr1208LeufsTer6) n.2413dup c.3542dup (p.Tyr1182LeufsTer6) n.3605dup c.*1095dup (n.*1095dup) n.4356dup c.*786dup (n.*786dup) c.*1852dup (n.*1852dup) n.4481dup c.2678dup (p.Tyr894LeufsTer6) c.3437dup (p.Tyr1147LeufsTer6) c.*3142dup (n.*3142dup) n.3288dup c.*3220dup (n.*3220dup) n.379dup c.3527dup (p.Tyr1177LeufsTer6) c.3485dup (p.Tyr1163LeufsTer6) c.3749dup (p.Tyr1251LeufsTer6) c.3671dup (p.Tyr1225LeufsTer6) c.3638dup (p.Tyr1214LeufsTer6) c.3647dup (p.Tyr1217LeufsTer6) c.2657dup (p.Tyr887LeufsTer6) | |
1 | g.154584868C>A | CA342634554 | ADAR | c.3513G>T (n.3513G>T) c.3649G>T (p.Gly1217Cys) c.3502G>T (p.Gly1168Cys) c.3271G>T (p.Gly1091Cys) c.2734G>T (p.Gly912Cys) c.3619G>T (p.Gly1207Cys) n.2412G>T c.3541G>T (p.Gly1181Cys) n.3604G>T c.*1094G>T (n.*1094G>T) n.4355G>T c.*785G>T (n.*785G>T) c.*1851G>T (n.*1851G>T) n.4480G>T c.2677G>T (p.Gly893Cys) c.3436G>T (p.Gly1146Cys) c.*3141G>T (n.*3141G>T) n.3287G>T c.*3219G>T (n.*3219G>T) n.378G>T c.3526G>T (p.Gly1176Cys) c.3484G>T (p.Gly1162Cys) c.3748G>T (p.Gly1250Cys) c.3670G>T (p.Gly1224Cys) c.3637G>T (p.Gly1213Cys) c.3646G>T (p.Gly1216Cys) c.2656G>T (p.Gly886Cys) | |
1 | g.154584868C>G | CA342634555 | ADAR | c.3513G>C (n.3513G>C) c.3649G>C (p.Gly1217Arg) c.3502G>C (p.Gly1168Arg) c.3271G>C (p.Gly1091Arg) c.2734G>C (p.Gly912Arg) c.3619G>C (p.Gly1207Arg) n.2412G>C c.3541G>C (p.Gly1181Arg) n.3604G>C c.*1094G>C (n.*1094G>C) n.4355G>C c.*785G>C (n.*785G>C) c.*1851G>C (n.*1851G>C) n.4480G>C c.2677G>C (p.Gly893Arg) c.3436G>C (p.Gly1146Arg) c.*3141G>C (n.*3141G>C) n.3287G>C c.*3219G>C (n.*3219G>C) n.378G>C c.3526G>C (p.Gly1176Arg) c.3484G>C (p.Gly1162Arg) c.3748G>C (p.Gly1250Arg) c.3670G>C (p.Gly1224Arg) c.3637G>C (p.Gly1213Arg) c.3646G>C (p.Gly1216Arg) c.2656G>C (p.Gly886Arg) | |
1 | g.154584868C>T | CA342634556 | ADAR | c.3513G>A (n.3513G>A) c.3649G>A (p.Gly1217Ser) c.3502G>A (p.Gly1168Ser) c.3271G>A (p.Gly1091Ser) c.2734G>A (p.Gly912Ser) c.3619G>A (p.Gly1207Ser) n.2412G>A c.3541G>A (p.Gly1181Ser) n.3604G>A c.*1094G>A (n.*1094G>A) n.4355G>A c.*785G>A (n.*785G>A) c.*1851G>A (n.*1851G>A) n.4480G>A c.2677G>A (p.Gly893Ser) c.3436G>A (p.Gly1146Ser) c.*3141G>A (n.*3141G>A) n.3287G>A c.*3219G>A (n.*3219G>A) n.378G>A c.3526G>A (p.Gly1176Ser) c.3484G>A (p.Gly1162Ser) c.3748G>A (p.Gly1250Ser) c.3670G>A (p.Gly1224Ser) c.3637G>A (p.Gly1213Ser) c.3646G>A (p.Gly1216Ser) c.2656G>A (p.Gly886Ser) | |
1 | g.154584869C>A | CA342634558 | ADAR | c.3512G>T (n.3512G>T) c.3648G>T (p.Met1216Ile) c.3501G>T (p.Met1167Ile) c.3270G>T (p.Met1090Ile) c.2733G>T (p.Met911Ile) c.3618G>T (p.Met1206Ile) n.2411G>T c.3540G>T (p.Met1180Ile) n.3603G>T c.*1093G>T (n.*1093G>T) n.4354G>T c.*784G>T (n.*784G>T) c.*1850G>T (n.*1850G>T) n.4479G>T c.2676G>T (p.Met892Ile) c.3435G>T (p.Met1145Ile) c.*3140G>T (n.*3140G>T) n.3286G>T c.*3218G>T (n.*3218G>T) n.377G>T c.3525G>T (p.Met1175Ile) c.3483G>T (p.Met1161Ile) c.3747G>T (p.Met1249Ile) c.3669G>T (p.Met1223Ile) c.3636G>T (p.Met1212Ile) c.3645G>T (p.Met1215Ile) c.2655G>T (p.Met885Ile) | |
1 | g.154584869C>G | CA342634559 | ADAR | c.3512G>C (n.3512G>C) c.3648G>C (p.Met1216Ile) c.3501G>C (p.Met1167Ile) c.3270G>C (p.Met1090Ile) c.2733G>C (p.Met911Ile) c.3618G>C (p.Met1206Ile) n.2411G>C c.3540G>C (p.Met1180Ile) n.3603G>C c.*1093G>C (n.*1093G>C) n.4354G>C c.*784G>C (n.*784G>C) c.*1850G>C (n.*1850G>C) n.4479G>C c.2676G>C (p.Met892Ile) c.3435G>C (p.Met1145Ile) c.*3140G>C (n.*3140G>C) n.3286G>C c.*3218G>C (n.*3218G>C) n.377G>C c.3525G>C (p.Met1175Ile) c.3483G>C (p.Met1161Ile) c.3747G>C (p.Met1249Ile) c.3669G>C (p.Met1223Ile) c.3636G>C (p.Met1212Ile) c.3645G>C (p.Met1215Ile) c.2655G>C (p.Met885Ile) | |
1 | g.154584869C>T | CA342634557 | ADAR | c.3512G>A (n.3512G>A) c.3648G>A (p.Met1216Ile) c.3501G>A (p.Met1167Ile) c.3270G>A (p.Met1090Ile) c.2733G>A (p.Met911Ile) c.3618G>A (p.Met1206Ile) n.2411G>A c.3540G>A (p.Met1180Ile) n.3603G>A c.*1093G>A (n.*1093G>A) n.4354G>A c.*784G>A (n.*784G>A) c.*1850G>A (n.*1850G>A) n.4479G>A c.2676G>A (p.Met892Ile) c.3435G>A (p.Met1145Ile) c.*3140G>A (n.*3140G>A) n.3286G>A c.*3218G>A (n.*3218G>A) n.377G>A c.3525G>A (p.Met1175Ile) c.3483G>A (p.Met1161Ile) c.3747G>A (p.Met1249Ile) c.3669G>A (p.Met1223Ile) c.3636G>A (p.Met1212Ile) c.3645G>A (p.Met1215Ile) c.2655G>A (p.Met885Ile) | |
1 | g.154584870A>C | CA342634562 | ADAR | c.3511T>G (n.3511T>G) c.3647T>G (p.Met1216Arg) c.3500T>G (p.Met1167Arg) c.3269T>G (p.Met1090Arg) c.2732T>G (p.Met911Arg) c.3617T>G (p.Met1206Arg) n.2410T>G c.3539T>G (p.Met1180Arg) n.3602T>G c.*1092T>G (n.*1092T>G) n.4353T>G c.*783T>G (n.*783T>G) c.*1849T>G (n.*1849T>G) n.4478T>G c.2675T>G (p.Met892Arg) c.3434T>G (p.Met1145Arg) c.*3139T>G (n.*3139T>G) n.3285T>G c.*3217T>G (n.*3217T>G) n.376T>G c.3524T>G (p.Met1175Arg) c.3482T>G (p.Met1161Arg) c.3746T>G (p.Met1249Arg) c.3668T>G (p.Met1223Arg) c.3635T>G (p.Met1212Arg) c.3644T>G (p.Met1215Arg) c.2654T>G (p.Met885Arg) | |
1 | g.154584870A>G | CA342634560 | ADAR | c.3511T>C (n.3511T>C) c.3647T>C (p.Met1216Thr) c.3500T>C (p.Met1167Thr) c.3269T>C (p.Met1090Thr) c.2732T>C (p.Met911Thr) c.3617T>C (p.Met1206Thr) n.2410T>C c.3539T>C (p.Met1180Thr) n.3602T>C c.*1092T>C (n.*1092T>C) n.4353T>C c.*783T>C (n.*783T>C) c.*1849T>C (n.*1849T>C) n.4478T>C c.2675T>C (p.Met892Thr) c.3434T>C (p.Met1145Thr) c.*3139T>C (n.*3139T>C) n.3285T>C c.*3217T>C (n.*3217T>C) n.376T>C c.3524T>C (p.Met1175Thr) c.3482T>C (p.Met1161Thr) c.3746T>C (p.Met1249Thr) c.3668T>C (p.Met1223Thr) c.3635T>C (p.Met1212Thr) c.3644T>C (p.Met1215Thr) c.2654T>C (p.Met885Thr) | gnomAD v4 |
1 | g.154584870A>T | CA342634561 | ADAR | c.3511T>A (n.3511T>A) c.3647T>A (p.Met1216Lys) c.3500T>A (p.Met1167Lys) c.3269T>A (p.Met1090Lys) c.2732T>A (p.Met911Lys) c.3617T>A (p.Met1206Lys) n.2410T>A c.3539T>A (p.Met1180Lys) n.3602T>A c.*1092T>A (n.*1092T>A) n.4353T>A c.*783T>A (n.*783T>A) c.*1849T>A (n.*1849T>A) n.4478T>A c.2675T>A (p.Met892Lys) c.3434T>A (p.Met1145Lys) c.*3139T>A (n.*3139T>A) n.3285T>A c.*3217T>A (n.*3217T>A) n.376T>A c.3524T>A (p.Met1175Lys) c.3482T>A (p.Met1161Lys) c.3746T>A (p.Met1249Lys) c.3668T>A (p.Met1223Lys) c.3635T>A (p.Met1212Lys) c.3644T>A (p.Met1215Lys) c.2654T>A (p.Met885Lys) | |
1 | g.154584871T>A | CA342634563 | ADAR | c.3510A>T (n.3510A>T) c.3646A>T (p.Met1216Leu) c.3499A>T (p.Met1167Leu) c.3268A>T (p.Met1090Leu) c.2731A>T (p.Met911Leu) c.3616A>T (p.Met1206Leu) n.2409A>T c.3538A>T (p.Met1180Leu) n.3601A>T c.*1091A>T (n.*1091A>T) n.4352A>T c.*782A>T (n.*782A>T) c.*1848A>T (n.*1848A>T) n.4477A>T c.2674A>T (p.Met892Leu) c.3433A>T (p.Met1145Leu) c.*3138A>T (n.*3138A>T) n.3284A>T c.*3216A>T (n.*3216A>T) n.375A>T c.3523A>T (p.Met1175Leu) c.3481A>T (p.Met1161Leu) c.3745A>T (p.Met1249Leu) c.3667A>T (p.Met1223Leu) c.3634A>T (p.Met1212Leu) c.3643A>T (p.Met1215Leu) c.2653A>T (p.Met885Leu) | |
1 | g.154584871T>C | CA342634564 | ADAR | c.3510A>G (n.3510A>G) c.3646A>G (p.Met1216Val) c.3499A>G (p.Met1167Val) c.3268A>G (p.Met1090Val) c.2731A>G (p.Met911Val) c.3616A>G (p.Met1206Val) n.2409A>G c.3538A>G (p.Met1180Val) n.3601A>G c.*1091A>G (n.*1091A>G) n.4352A>G c.*782A>G (n.*782A>G) c.*1848A>G (n.*1848A>G) n.4477A>G c.2674A>G (p.Met892Val) c.3433A>G (p.Met1145Val) c.*3138A>G (n.*3138A>G) n.3284A>G c.*3216A>G (n.*3216A>G) n.375A>G c.3523A>G (p.Met1175Val) c.3481A>G (p.Met1161Val) c.3745A>G (p.Met1249Val) c.3667A>G (p.Met1223Val) c.3634A>G (p.Met1212Val) c.3643A>G (p.Met1215Val) c.2653A>G (p.Met885Val) | gnomAD v4 |
1 | g.154584871T>G | CA342634565 | ADAR | c.3510A>C (n.3510A>C) c.3646A>C (p.Met1216Leu) c.3499A>C (p.Met1167Leu) c.3268A>C (p.Met1090Leu) c.2731A>C (p.Met911Leu) c.3616A>C (p.Met1206Leu) n.2409A>C c.3538A>C (p.Met1180Leu) n.3601A>C c.*1091A>C (n.*1091A>C) n.4352A>C c.*782A>C (n.*782A>C) c.*1848A>C (n.*1848A>C) n.4477A>C c.2674A>C (p.Met892Leu) c.3433A>C (p.Met1145Leu) c.*3138A>C (n.*3138A>C) n.3284A>C c.*3216A>C (n.*3216A>C) n.375A>C c.3523A>C (p.Met1175Leu) c.3481A>C (p.Met1161Leu) c.3745A>C (p.Met1249Leu) c.3667A>C (p.Met1223Leu) c.3634A>C (p.Met1212Leu) c.3643A>C (p.Met1215Leu) c.2653A>C (p.Met885Leu) | |
1 | g.154584872A>C | CA342634566 | ADAR | c.3509T>G (n.3509T>G) c.3645T>G (p.Asp1215Glu) c.3498T>G (p.Asp1166Glu) c.3267T>G (p.Asp1089Glu) c.2730T>G (p.Asp910Glu) c.3615T>G (p.Asp1205Glu) n.2408T>G c.3537T>G (p.Asp1179Glu) n.3600T>G c.*1090T>G (n.*1090T>G) n.4351T>G c.*781T>G (n.*781T>G) c.*1847T>G (n.*1847T>G) n.4476T>G c.2673T>G (p.Asp891Glu) c.3432T>G (p.Asp1144Glu) c.*3137T>G (n.*3137T>G) n.3283T>G c.*3215T>G (n.*3215T>G) n.374T>G c.3522T>G (p.Asp1174Glu) c.3480T>G (p.Asp1160Glu) c.3744T>G (p.Asp1248Glu) c.3666T>G (p.Asp1222Glu) c.3633T>G (p.Asp1211Glu) c.3642T>G (p.Asp1214Glu) c.2652T>G (p.Asp884Glu) | |
1 | g.154584872A>G | CA421231394 | ADAR | c.3509T>C (n.3509T>C) c.3645T>C (p.Asp1215=) c.3498T>C (p.Asp1166=) c.3267T>C (p.Asp1089=) c.2730T>C (p.Asp910=) c.3615T>C (p.Asp1205=) n.2408T>C c.3537T>C (p.Asp1179=) n.3600T>C c.*1090T>C (n.*1090T>C) n.4351T>C c.*781T>C (n.*781T>C) c.*1847T>C (n.*1847T>C) n.4476T>C c.2673T>C (p.Asp891=) c.3432T>C (p.Asp1144=) c.*3137T>C (n.*3137T>C) n.3283T>C c.*3215T>C (n.*3215T>C) n.374T>C c.3522T>C (p.Asp1174=) c.3480T>C (p.Asp1160=) c.3744T>C (p.Asp1248=) c.3666T>C (p.Asp1222=) c.3633T>C (p.Asp1211=) c.3642T>C (p.Asp1214=) c.2652T>C (p.Asp884=) | |
1 | g.154584872A>T | CA342634567 | ADAR | c.3509T>A (n.3509T>A) c.3645T>A (p.Asp1215Glu) c.3498T>A (p.Asp1166Glu) c.3267T>A (p.Asp1089Glu) c.2730T>A (p.Asp910Glu) c.3615T>A (p.Asp1205Glu) n.2408T>A c.3537T>A (p.Asp1179Glu) n.3600T>A c.*1090T>A (n.*1090T>A) n.4351T>A c.*781T>A (n.*781T>A) c.*1847T>A (n.*1847T>A) n.4476T>A c.2673T>A (p.Asp891Glu) c.3432T>A (p.Asp1144Glu) c.*3137T>A (n.*3137T>A) n.3283T>A c.*3215T>A (n.*3215T>A) n.374T>A c.3522T>A (p.Asp1174Glu) c.3480T>A (p.Asp1160Glu) c.3744T>A (p.Asp1248Glu) c.3666T>A (p.Asp1222Glu) c.3633T>A (p.Asp1211Glu) c.3642T>A (p.Asp1214Glu) c.2652T>A (p.Asp884Glu) | |
1 | g.154584873T>A | CA342634570 | ADAR | c.3508A>T (n.3508A>T) c.3644A>T (p.Asp1215Val) c.3497A>T (p.Asp1166Val) c.3266A>T (p.Asp1089Val) c.2729A>T (p.Asp910Val) c.3614A>T (p.Asp1205Val) n.2407A>T c.3536A>T (p.Asp1179Val) n.3599A>T c.*1089A>T (n.*1089A>T) n.4350A>T c.*780A>T (n.*780A>T) c.*1846A>T (n.*1846A>T) n.4475A>T c.2672A>T (p.Asp891Val) c.3431A>T (p.Asp1144Val) c.*3136A>T (n.*3136A>T) n.3282A>T c.*3214A>T (n.*3214A>T) n.373A>T c.3521A>T (p.Asp1174Val) c.3479A>T (p.Asp1160Val) c.3743A>T (p.Asp1248Val) c.3665A>T (p.Asp1222Val) c.3632A>T (p.Asp1211Val) c.3641A>T (p.Asp1214Val) c.2651A>T (p.Asp884Val) | |
1 | g.154584873T>C | CA342634568 | ADAR | c.3508A>G (n.3508A>G) c.3644A>G (p.Asp1215Gly) c.3497A>G (p.Asp1166Gly) c.3266A>G (p.Asp1089Gly) c.2729A>G (p.Asp910Gly) c.3614A>G (p.Asp1205Gly) n.2407A>G c.3536A>G (p.Asp1179Gly) n.3599A>G c.*1089A>G (n.*1089A>G) n.4350A>G c.*780A>G (n.*780A>G) c.*1846A>G (n.*1846A>G) n.4475A>G c.2672A>G (p.Asp891Gly) c.3431A>G (p.Asp1144Gly) c.*3136A>G (n.*3136A>G) n.3282A>G c.*3214A>G (n.*3214A>G) n.373A>G c.3521A>G (p.Asp1174Gly) c.3479A>G (p.Asp1160Gly) c.3743A>G (p.Asp1248Gly) c.3665A>G (p.Asp1222Gly) c.3632A>G (p.Asp1211Gly) c.3641A>G (p.Asp1214Gly) c.2651A>G (p.Asp884Gly) | |
1 | g.154584873T>G | CA342634569 | ADAR | c.3508A>C (n.3508A>C) c.3644A>C (p.Asp1215Ala) c.3497A>C (p.Asp1166Ala) c.3266A>C (p.Asp1089Ala) c.2729A>C (p.Asp910Ala) c.3614A>C (p.Asp1205Ala) n.2407A>C c.3536A>C (p.Asp1179Ala) n.3599A>C c.*1089A>C (n.*1089A>C) n.4350A>C c.*780A>C (n.*780A>C) c.*1846A>C (n.*1846A>C) n.4475A>C c.2672A>C (p.Asp891Ala) c.3431A>C (p.Asp1144Ala) c.*3136A>C (n.*3136A>C) n.3282A>C c.*3214A>C (n.*3214A>C) n.373A>C c.3521A>C (p.Asp1174Ala) c.3479A>C (p.Asp1160Ala) c.3743A>C (p.Asp1248Ala) c.3665A>C (p.Asp1222Ala) c.3632A>C (p.Asp1211Ala) c.3641A>C (p.Asp1214Ala) c.2651A>C (p.Asp884Ala) | |
1 | g.154584874C>A | CA342634571 | ADAR | c.3507G>T (n.3507G>T) c.3643G>T (p.Asp1215Tyr) c.3496G>T (p.Asp1166Tyr) c.3265G>T (p.Asp1089Tyr) c.2728G>T (p.Asp910Tyr) c.3613G>T (p.Asp1205Tyr) n.2406G>T c.3535G>T (p.Asp1179Tyr) n.3598G>T c.*1088G>T (n.*1088G>T) n.4349G>T c.*779G>T (n.*779G>T) c.*1845G>T (n.*1845G>T) n.4474G>T c.2671G>T (p.Asp891Tyr) c.3430G>T (p.Asp1144Tyr) c.*3135G>T (n.*3135G>T) n.3281G>T c.*3213G>T (n.*3213G>T) n.372G>T c.3520G>T (p.Asp1174Tyr) c.3478G>T (p.Asp1160Tyr) c.3742G>T (p.Asp1248Tyr) c.3664G>T (p.Asp1222Tyr) c.3631G>T (p.Asp1211Tyr) c.3640G>T (p.Asp1214Tyr) c.2650G>T (p.Asp884Tyr) | |
1 | g.154584874C>G | CA342634572 | ADAR | c.3507G>C (n.3507G>C) c.3643G>C (p.Asp1215His) c.3496G>C (p.Asp1166His) c.3265G>C (p.Asp1089His) c.2728G>C (p.Asp910His) c.3613G>C (p.Asp1205His) n.2406G>C c.3535G>C (p.Asp1179His) n.3598G>C c.*1088G>C (n.*1088G>C) n.4349G>C c.*779G>C (n.*779G>C) c.*1845G>C (n.*1845G>C) n.4474G>C c.2671G>C (p.Asp891His) c.3430G>C (p.Asp1144His) c.*3135G>C (n.*3135G>C) n.3281G>C c.*3213G>C (n.*3213G>C) n.372G>C c.3520G>C (p.Asp1174His) c.3478G>C (p.Asp1160His) c.3742G>C (p.Asp1248His) c.3664G>C (p.Asp1222His) c.3631G>C (p.Asp1211His) c.3640G>C (p.Asp1214His) c.2650G>C (p.Asp884His) | |
1 | g.154584874C>T | CA342634573 | ADAR | c.3507G>A (n.3507G>A) c.3643G>A (p.Asp1215Asn) c.3496G>A (p.Asp1166Asn) c.3265G>A (p.Asp1089Asn) c.2728G>A (p.Asp910Asn) c.3613G>A (p.Asp1205Asn) n.2406G>A c.3535G>A (p.Asp1179Asn) n.3598G>A c.*1088G>A (n.*1088G>A) n.4349G>A c.*779G>A (n.*779G>A) c.*1845G>A (n.*1845G>A) n.4474G>A c.2671G>A (p.Asp891Asn) c.3430G>A (p.Asp1144Asn) c.*3135G>A (n.*3135G>A) n.3281G>A c.*3213G>A (n.*3213G>A) n.372G>A c.3520G>A (p.Asp1174Asn) c.3478G>A (p.Asp1160Asn) c.3742G>A (p.Asp1248Asn) c.3664G>A (p.Asp1222Asn) c.3631G>A (p.Asp1211Asn) c.3640G>A (p.Asp1214Asn) c.2650G>A (p.Asp884Asn) | |
1 | g.154584875C>A | CA342634574 | ADAR | c.3506G>T (n.3506G>T) c.3642G>T (p.Lys1214Asn) c.3495G>T (p.Lys1165Asn) c.3264G>T (p.Lys1088Asn) c.2727G>T (p.Lys909Asn) c.3612G>T (p.Lys1204Asn) n.2405G>T c.3534G>T (p.Lys1178Asn) n.3597G>T c.*1087G>T (n.*1087G>T) n.4348G>T c.*778G>T (n.*778G>T) c.*1844G>T (n.*1844G>T) n.4473G>T c.2670G>T (p.Lys890Asn) c.3429G>T (p.Lys1143Asn) c.*3134G>T (n.*3134G>T) n.3280G>T c.*3212G>T (n.*3212G>T) n.371G>T c.3519G>T (p.Lys1173Asn) c.3477G>T (p.Lys1159Asn) c.3741G>T (p.Lys1247Asn) c.3663G>T (p.Lys1221Asn) c.3630G>T (p.Lys1210Asn) c.3639G>T (p.Lys1213Asn) c.2649G>T (p.Lys883Asn) | |
1 | g.154584875C>G | CA342634575 | ADAR | c.3506G>C (n.3506G>C) c.3642G>C (p.Lys1214Asn) c.3495G>C (p.Lys1165Asn) c.3264G>C (p.Lys1088Asn) c.2727G>C (p.Lys909Asn) c.3612G>C (p.Lys1204Asn) n.2405G>C c.3534G>C (p.Lys1178Asn) n.3597G>C c.*1087G>C (n.*1087G>C) n.4348G>C c.*778G>C (n.*778G>C) c.*1844G>C (n.*1844G>C) n.4473G>C c.2670G>C (p.Lys890Asn) c.3429G>C (p.Lys1143Asn) c.*3134G>C (n.*3134G>C) n.3280G>C c.*3212G>C (n.*3212G>C) n.371G>C c.3519G>C (p.Lys1173Asn) c.3477G>C (p.Lys1159Asn) c.3741G>C (p.Lys1247Asn) c.3663G>C (p.Lys1221Asn) c.3630G>C (p.Lys1210Asn) c.3639G>C (p.Lys1213Asn) c.2649G>C (p.Lys883Asn) | |
1 | g.154584875C>T | CA421231399 | ADAR | c.3506G>A (n.3506G>A) c.3642G>A (p.Lys1214=) c.3495G>A (p.Lys1165=) c.3264G>A (p.Lys1088=) c.2727G>A (p.Lys909=) c.3612G>A (p.Lys1204=) n.2405G>A c.3534G>A (p.Lys1178=) n.3597G>A c.*1087G>A (n.*1087G>A) n.4348G>A c.*778G>A (n.*778G>A) c.*1844G>A (n.*1844G>A) n.4473G>A c.2670G>A (p.Lys890=) c.3429G>A (p.Lys1143=) c.*3134G>A (n.*3134G>A) n.3280G>A c.*3212G>A (n.*3212G>A) n.371G>A c.3519G>A (p.Lys1173=) c.3477G>A (p.Lys1159=) c.3741G>A (p.Lys1247=) c.3663G>A (p.Lys1221=) c.3630G>A (p.Lys1210=) c.3639G>A (p.Lys1213=) c.2649G>A (p.Lys883=) | |
1 | g.154584876T>A | CA342634576 | ADAR | c.3505A>T (n.3505A>T) c.3641A>T (p.Lys1214Met) c.3494A>T (p.Lys1165Met) c.3263A>T (p.Lys1088Met) c.2726A>T (p.Lys909Met) c.3611A>T (p.Lys1204Met) n.2404A>T c.3533A>T (p.Lys1178Met) n.3596A>T c.*1086A>T (n.*1086A>T) n.4347A>T c.*777A>T (n.*777A>T) c.*1843A>T (n.*1843A>T) n.4472A>T c.2669A>T (p.Lys890Met) c.3428A>T (p.Lys1143Met) c.*3133A>T (n.*3133A>T) n.3279A>T c.*3211A>T (n.*3211A>T) n.370A>T c.3518A>T (p.Lys1173Met) c.3476A>T (p.Lys1159Met) c.3740A>T (p.Lys1247Met) c.3662A>T (p.Lys1221Met) c.3629A>T (p.Lys1210Met) c.3638A>T (p.Lys1213Met) c.2648A>T (p.Lys883Met) | |
1 | g.154584876T>C | CA342634578 | ADAR | c.3505A>G (n.3505A>G) c.3641A>G (p.Lys1214Arg) c.3494A>G (p.Lys1165Arg) c.3263A>G (p.Lys1088Arg) c.2726A>G (p.Lys909Arg) c.3611A>G (p.Lys1204Arg) n.2404A>G c.3533A>G (p.Lys1178Arg) n.3596A>G c.*1086A>G (n.*1086A>G) n.4347A>G c.*777A>G (n.*777A>G) c.*1843A>G (n.*1843A>G) n.4472A>G c.2669A>G (p.Lys890Arg) c.3428A>G (p.Lys1143Arg) c.*3133A>G (n.*3133A>G) n.3279A>G c.*3211A>G (n.*3211A>G) n.370A>G c.3518A>G (p.Lys1173Arg) c.3476A>G (p.Lys1159Arg) c.3740A>G (p.Lys1247Arg) c.3662A>G (p.Lys1221Arg) c.3629A>G (p.Lys1210Arg) c.3638A>G (p.Lys1213Arg) c.2648A>G (p.Lys883Arg) | |
1 | g.154584876T>G | CA342634577 | ADAR | c.3505A>C (n.3505A>C) c.3641A>C (p.Lys1214Thr) c.3494A>C (p.Lys1165Thr) c.3263A>C (p.Lys1088Thr) c.2726A>C (p.Lys909Thr) c.3611A>C (p.Lys1204Thr) n.2404A>C c.3533A>C (p.Lys1178Thr) n.3596A>C c.*1086A>C (n.*1086A>C) n.4347A>C c.*777A>C (n.*777A>C) c.*1843A>C (n.*1843A>C) n.4472A>C c.2669A>C (p.Lys890Thr) c.3428A>C (p.Lys1143Thr) c.*3133A>C (n.*3133A>C) n.3279A>C c.*3211A>C (n.*3211A>C) n.370A>C c.3518A>C (p.Lys1173Thr) c.3476A>C (p.Lys1159Thr) c.3740A>C (p.Lys1247Thr) c.3662A>C (p.Lys1221Thr) c.3629A>C (p.Lys1210Thr) c.3638A>C (p.Lys1213Thr) c.2648A>C (p.Lys883Thr) | |
1 | g.154584877T>A | CA342634579 | ADAR | c.3504A>T (n.3504A>T) c.3640A>T (p.Lys1214Ter) c.3493A>T (p.Lys1165Ter) c.3262A>T (p.Lys1088Ter) c.2725A>T (p.Lys909Ter) c.3610A>T (p.Lys1204Ter) n.2403A>T c.3532A>T (p.Lys1178Ter) n.3595A>T c.*1085A>T (n.*1085A>T) n.4346A>T c.*776A>T (n.*776A>T) c.*1842A>T (n.*1842A>T) n.4471A>T c.2668A>T (p.Lys890Ter) c.3427A>T (p.Lys1143Ter) c.*3132A>T (n.*3132A>T) n.3278A>T c.*3210A>T (n.*3210A>T) n.369A>T c.3517A>T (p.Lys1173Ter) c.3475A>T (p.Lys1159Ter) c.3739A>T (p.Lys1247Ter) c.3661A>T (p.Lys1221Ter) c.3628A>T (p.Lys1210Ter) c.3637A>T (p.Lys1213Ter) c.2647A>T (p.Lys883Ter) | |
1 | g.154584877T>C | CA342634580 | ADAR | c.3504A>G (n.3504A>G) c.3640A>G (p.Lys1214Glu) c.3493A>G (p.Lys1165Glu) c.3262A>G (p.Lys1088Glu) c.2725A>G (p.Lys909Glu) c.3610A>G (p.Lys1204Glu) n.2403A>G c.3532A>G (p.Lys1178Glu) n.3595A>G c.*1085A>G (n.*1085A>G) n.4346A>G c.*776A>G (n.*776A>G) c.*1842A>G (n.*1842A>G) n.4471A>G c.2668A>G (p.Lys890Glu) c.3427A>G (p.Lys1143Glu) c.*3132A>G (n.*3132A>G) n.3278A>G c.*3210A>G (n.*3210A>G) n.369A>G c.3517A>G (p.Lys1173Glu) c.3475A>G (p.Lys1159Glu) c.3739A>G (p.Lys1247Glu) c.3661A>G (p.Lys1221Glu) c.3628A>G (p.Lys1210Glu) c.3637A>G (p.Lys1213Glu) c.2647A>G (p.Lys883Glu) | |
1 | g.154584877T>G | CA342634581 | ADAR | c.3504A>C (n.3504A>C) c.3640A>C (p.Lys1214Gln) c.3493A>C (p.Lys1165Gln) c.3262A>C (p.Lys1088Gln) c.2725A>C (p.Lys909Gln) c.3610A>C (p.Lys1204Gln) n.2403A>C c.3532A>C (p.Lys1178Gln) n.3595A>C c.*1085A>C (n.*1085A>C) n.4346A>C c.*776A>C (n.*776A>C) c.*1842A>C (n.*1842A>C) n.4471A>C c.2668A>C (p.Lys890Gln) c.3427A>C (p.Lys1143Gln) c.*3132A>C (n.*3132A>C) n.3278A>C c.*3210A>C (n.*3210A>C) n.369A>C c.3517A>C (p.Lys1173Gln) c.3475A>C (p.Lys1159Gln) c.3739A>C (p.Lys1247Gln) c.3661A>C (p.Lys1221Gln) c.3628A>C (p.Lys1210Gln) c.3637A>C (p.Lys1213Gln) c.2647A>C (p.Lys883Gln) | |
1 | g.154584878C>A | CA421231400 | ADAR | c.3503G>T (n.3503G>T) c.3639G>T (p.Leu1213=) c.3492G>T (p.Leu1164=) c.3261G>T (p.Leu1087=) c.2724G>T (p.Leu908=) c.3609G>T (p.Leu1203=) n.2402G>T c.3531G>T (p.Leu1177=) n.3594G>T c.*1084G>T (n.*1084G>T) n.4345G>T c.*775G>T (n.*775G>T) c.*1841G>T (n.*1841G>T) n.4470G>T c.2667G>T (p.Leu889=) c.3426G>T (p.Leu1142=) c.*3131G>T (n.*3131G>T) n.3277G>T c.*3209G>T (n.*3209G>T) n.368G>T c.3516G>T (p.Leu1172=) c.3474G>T (p.Leu1158=) c.3738G>T (p.Leu1246=) c.3660G>T (p.Leu1220=) c.3627G>T (p.Leu1209=) c.3636G>T (p.Leu1212=) c.2646G>T (p.Leu882=) | |
1 | g.154584878C>G | CA421231401 | ADAR | c.3503G>C (n.3503G>C) c.3639G>C (p.Leu1213=) c.3492G>C (p.Leu1164=) c.3261G>C (p.Leu1087=) c.2724G>C (p.Leu908=) c.3609G>C (p.Leu1203=) n.2402G>C c.3531G>C (p.Leu1177=) n.3594G>C c.*1084G>C (n.*1084G>C) n.4345G>C c.*775G>C (n.*775G>C) c.*1841G>C (n.*1841G>C) n.4470G>C c.2667G>C (p.Leu889=) c.3426G>C (p.Leu1142=) c.*3131G>C (n.*3131G>C) n.3277G>C c.*3209G>C (n.*3209G>C) n.368G>C c.3516G>C (p.Leu1172=) c.3474G>C (p.Leu1158=) c.3738G>C (p.Leu1246=) c.3660G>C (p.Leu1220=) c.3627G>C (p.Leu1209=) c.3636G>C (p.Leu1212=) c.2646G>C (p.Leu882=) | |
1 | g.154584878C>T | CA421231402 | ADAR | c.3503G>A (n.3503G>A) c.3639G>A (p.Leu1213=) c.3492G>A (p.Leu1164=) c.3261G>A (p.Leu1087=) c.2724G>A (p.Leu908=) c.3609G>A (p.Leu1203=) n.2402G>A c.3531G>A (p.Leu1177=) n.3594G>A c.*1084G>A (n.*1084G>A) n.4345G>A c.*775G>A (n.*775G>A) c.*1841G>A (n.*1841G>A) n.4470G>A c.2667G>A (p.Leu889=) c.3426G>A (p.Leu1142=) c.*3131G>A (n.*3131G>A) n.3277G>A c.*3209G>A (n.*3209G>A) n.368G>A c.3516G>A (p.Leu1172=) c.3474G>A (p.Leu1158=) c.3738G>A (p.Leu1246=) c.3660G>A (p.Leu1220=) c.3627G>A (p.Leu1209=) c.3636G>A (p.Leu1212=) c.2646G>A (p.Leu882=) | |
1 | g.154584879A>C | CA342634582 | ADAR | c.3502T>G (n.3502T>G) c.3638T>G (p.Leu1213Arg) c.3491T>G (p.Leu1164Arg) c.3260T>G (p.Leu1087Arg) c.2723T>G (p.Leu908Arg) c.3608T>G (p.Leu1203Arg) n.2401T>G c.3530T>G (p.Leu1177Arg) n.3593T>G c.*1083T>G (n.*1083T>G) n.4344T>G c.*774T>G (n.*774T>G) c.*1840T>G (n.*1840T>G) n.4469T>G c.2666T>G (p.Leu889Arg) c.3425T>G (p.Leu1142Arg) c.*3130T>G (n.*3130T>G) n.3276T>G c.*3208T>G (n.*3208T>G) n.367T>G c.3515T>G (p.Leu1172Arg) c.3473T>G (p.Leu1158Arg) c.3737T>G (p.Leu1246Arg) c.3659T>G (p.Leu1220Arg) c.3626T>G (p.Leu1209Arg) c.3635T>G (p.Leu1212Arg) c.2645T>G (p.Leu882Arg) | |
1 | g.154584879A>G | CA342634583 | ADAR | c.3502T>C (n.3502T>C) c.3638T>C (p.Leu1213Pro) c.3491T>C (p.Leu1164Pro) c.3260T>C (p.Leu1087Pro) c.2723T>C (p.Leu908Pro) c.3608T>C (p.Leu1203Pro) n.2401T>C c.3530T>C (p.Leu1177Pro) n.3593T>C c.*1083T>C (n.*1083T>C) n.4344T>C c.*774T>C (n.*774T>C) c.*1840T>C (n.*1840T>C) n.4469T>C c.2666T>C (p.Leu889Pro) c.3425T>C (p.Leu1142Pro) c.*3130T>C (n.*3130T>C) n.3276T>C c.*3208T>C (n.*3208T>C) n.367T>C c.3515T>C (p.Leu1172Pro) c.3473T>C (p.Leu1158Pro) c.3737T>C (p.Leu1246Pro) c.3659T>C (p.Leu1220Pro) c.3626T>C (p.Leu1209Pro) c.3635T>C (p.Leu1212Pro) c.2645T>C (p.Leu882Pro) | |
1 | g.154584879A>T | CA342634584 | ADAR | c.3502T>A (n.3502T>A) c.3638T>A (p.Leu1213Gln) c.3491T>A (p.Leu1164Gln) c.3260T>A (p.Leu1087Gln) c.2723T>A (p.Leu908Gln) c.3608T>A (p.Leu1203Gln) n.2401T>A c.3530T>A (p.Leu1177Gln) n.3593T>A c.*1083T>A (n.*1083T>A) n.4344T>A c.*774T>A (n.*774T>A) c.*1840T>A (n.*1840T>A) n.4469T>A c.2666T>A (p.Leu889Gln) c.3425T>A (p.Leu1142Gln) c.*3130T>A (n.*3130T>A) n.3276T>A c.*3208T>A (n.*3208T>A) n.367T>A c.3515T>A (p.Leu1172Gln) c.3473T>A (p.Leu1158Gln) c.3737T>A (p.Leu1246Gln) c.3659T>A (p.Leu1220Gln) c.3626T>A (p.Leu1209Gln) c.3635T>A (p.Leu1212Gln) c.2645T>A (p.Leu882Gln) | |
1 | g.154584880G>A | CA421231406 | ADAR | c.3501C>T (n.3501C>T) c.3637C>T (p.Leu1213=) c.3490C>T (p.Leu1164=) c.3259C>T (p.Leu1087=) c.2722C>T (p.Leu908=) c.3607C>T (p.Leu1203=) n.2400C>T c.3529C>T (p.Leu1177=) n.3592C>T c.*1082C>T (n.*1082C>T) n.4343C>T c.*773C>T (n.*773C>T) c.*1839C>T (n.*1839C>T) n.4468C>T c.2665C>T (p.Leu889=) c.3424C>T (p.Leu1142=) c.*3129C>T (n.*3129C>T) n.3275C>T c.*3207C>T (n.*3207C>T) n.366C>T c.3514C>T (p.Leu1172=) c.3472C>T (p.Leu1158=) c.3736C>T (p.Leu1246=) c.3658C>T (p.Leu1220=) c.3625C>T (p.Leu1209=) c.3634C>T (p.Leu1212=) c.2644C>T (p.Leu882=) | |
1 | g.154584880G>C | CA342634585 | ADAR | c.3501C>G (n.3501C>G) c.3637C>G (p.Leu1213Val) c.3490C>G (p.Leu1164Val) c.3259C>G (p.Leu1087Val) c.2722C>G (p.Leu908Val) c.3607C>G (p.Leu1203Val) n.2400C>G c.3529C>G (p.Leu1177Val) n.3592C>G c.*1082C>G (n.*1082C>G) n.4343C>G c.*773C>G (n.*773C>G) c.*1839C>G (n.*1839C>G) n.4468C>G c.2665C>G (p.Leu889Val) c.3424C>G (p.Leu1142Val) c.*3129C>G (n.*3129C>G) n.3275C>G c.*3207C>G (n.*3207C>G) n.366C>G c.3514C>G (p.Leu1172Val) c.3472C>G (p.Leu1158Val) c.3736C>G (p.Leu1246Val) c.3658C>G (p.Leu1220Val) c.3625C>G (p.Leu1209Val) c.3634C>G (p.Leu1212Val) c.2644C>G (p.Leu882Val) | |
1 | g.154584880G>T | CA342634586 | ADAR | c.3501C>A (n.3501C>A) c.3637C>A (p.Leu1213Met) c.3490C>A (p.Leu1164Met) c.3259C>A (p.Leu1087Met) c.2722C>A (p.Leu908Met) c.3607C>A (p.Leu1203Met) n.2400C>A c.3529C>A (p.Leu1177Met) n.3592C>A c.*1082C>A (n.*1082C>A) n.4343C>A c.*773C>A (n.*773C>A) c.*1839C>A (n.*1839C>A) n.4468C>A c.2665C>A (p.Leu889Met) c.3424C>A (p.Leu1142Met) c.*3129C>A (n.*3129C>A) n.3275C>A c.*3207C>A (n.*3207C>A) n.366C>A c.3514C>A (p.Leu1172Met) c.3472C>A (p.Leu1158Met) c.3736C>A (p.Leu1246Met) c.3658C>A (p.Leu1220Met) c.3625C>A (p.Leu1209Met) c.3634C>A (p.Leu1212Met) c.2644C>A (p.Leu882Met) | |
1 | g.154584881G>A | CA421231408 | ADAR | c.3500C>T (n.3500C>T) c.3636C>T (p.Gly1212=) c.3489C>T (p.Gly1163=) c.3258C>T (p.Gly1086=) c.2721C>T (p.Gly907=) c.3606C>T (p.Gly1202=) n.2399C>T c.3528C>T (p.Gly1176=) n.3591C>T c.*1081C>T (n.*1081C>T) n.4342C>T c.*772C>T (n.*772C>T) c.*1838C>T (n.*1838C>T) n.4467C>T c.2664C>T (p.Gly888=) c.3423C>T (p.Gly1141=) c.*3128C>T (n.*3128C>T) n.3274C>T c.*3206C>T (n.*3206C>T) n.365C>T c.3513C>T (p.Gly1171=) c.3471C>T (p.Gly1157=) c.3735C>T (p.Gly1245=) c.3657C>T (p.Gly1219=) c.3624C>T (p.Gly1208=) c.3633C>T (p.Gly1211=) c.2643C>T (p.Gly881=) | |
1 | g.154584881G>C | CA421231409 | ADAR | c.3500C>G (n.3500C>G) c.3636C>G (p.Gly1212=) c.3489C>G (p.Gly1163=) c.3258C>G (p.Gly1086=) c.2721C>G (p.Gly907=) c.3606C>G (p.Gly1202=) n.2399C>G c.3528C>G (p.Gly1176=) n.3591C>G c.*1081C>G (n.*1081C>G) n.4342C>G c.*772C>G (n.*772C>G) c.*1838C>G (n.*1838C>G) n.4467C>G c.2664C>G (p.Gly888=) c.3423C>G (p.Gly1141=) c.*3128C>G (n.*3128C>G) n.3274C>G c.*3206C>G (n.*3206C>G) n.365C>G c.3513C>G (p.Gly1171=) c.3471C>G (p.Gly1157=) c.3735C>G (p.Gly1245=) c.3657C>G (p.Gly1219=) c.3624C>G (p.Gly1208=) c.3633C>G (p.Gly1211=) c.2643C>G (p.Gly881=) | |
1 | g.154584881G>T | CA421231410 | ADAR | c.3500C>A (n.3500C>A) c.3636C>A (p.Gly1212=) c.3489C>A (p.Gly1163=) c.3258C>A (p.Gly1086=) c.2721C>A (p.Gly907=) c.3606C>A (p.Gly1202=) n.2399C>A c.3528C>A (p.Gly1176=) n.3591C>A c.*1081C>A (n.*1081C>A) n.4342C>A c.*772C>A (n.*772C>A) c.*1838C>A (n.*1838C>A) n.4467C>A c.2664C>A (p.Gly888=) c.3423C>A (p.Gly1141=) c.*3128C>A (n.*3128C>A) n.3274C>A c.*3206C>A (n.*3206C>A) n.365C>A c.3513C>A (p.Gly1171=) c.3471C>A (p.Gly1157=) c.3735C>A (p.Gly1245=) c.3657C>A (p.Gly1219=) c.3624C>A (p.Gly1208=) c.3633C>A (p.Gly1211=) c.2643C>A (p.Gly881=) | |
1 | g.154584882C>A | CA342634587 | ADAR | c.3499G>T (n.3499G>T) c.3635G>T (p.Gly1212Val) c.3488G>T (p.Gly1163Val) c.3257G>T (p.Gly1086Val) c.2720G>T (p.Gly907Val) c.3605G>T (p.Gly1202Val) n.2398G>T c.3527G>T (p.Gly1176Val) n.3590G>T c.*1080G>T (n.*1080G>T) n.4341G>T c.*771G>T (n.*771G>T) c.*1837G>T (n.*1837G>T) n.4466G>T c.2663G>T (p.Gly888Val) c.3422G>T (p.Gly1141Val) c.*3127G>T (n.*3127G>T) n.3273G>T c.*3205G>T (n.*3205G>T) n.364G>T c.3512G>T (p.Gly1171Val) c.3470G>T (p.Gly1157Val) c.3734G>T (p.Gly1245Val) c.3656G>T (p.Gly1219Val) c.3623G>T (p.Gly1208Val) c.3632G>T (p.Gly1211Val) c.2642G>T (p.Gly881Val) | ClinVar |
1 | g.154584882C>G | CA342634588 | ADAR | c.3499G>C (n.3499G>C) c.3635G>C (p.Gly1212Ala) c.3488G>C (p.Gly1163Ala) c.3257G>C (p.Gly1086Ala) c.2720G>C (p.Gly907Ala) c.3605G>C (p.Gly1202Ala) n.2398G>C c.3527G>C (p.Gly1176Ala) n.3590G>C c.*1080G>C (n.*1080G>C) n.4341G>C c.*771G>C (n.*771G>C) c.*1837G>C (n.*1837G>C) n.4466G>C c.2663G>C (p.Gly888Ala) c.3422G>C (p.Gly1141Ala) c.*3127G>C (n.*3127G>C) n.3273G>C c.*3205G>C (n.*3205G>C) n.364G>C c.3512G>C (p.Gly1171Ala) c.3470G>C (p.Gly1157Ala) c.3734G>C (p.Gly1245Ala) c.3656G>C (p.Gly1219Ala) c.3623G>C (p.Gly1208Ala) c.3632G>C (p.Gly1211Ala) c.2642G>C (p.Gly881Ala) | ClinVar |
1 | g.154584882C>T | CA342634589 | ADAR | c.3499G>A (n.3499G>A) c.3635G>A (p.Gly1212Asp) c.3488G>A (p.Gly1163Asp) c.3257G>A (p.Gly1086Asp) c.2720G>A (p.Gly907Asp) c.3605G>A (p.Gly1202Asp) n.2398G>A c.3527G>A (p.Gly1176Asp) n.3590G>A c.*1080G>A (n.*1080G>A) n.4341G>A c.*771G>A (n.*771G>A) c.*1837G>A (n.*1837G>A) n.4466G>A c.2663G>A (p.Gly888Asp) c.3422G>A (p.Gly1141Asp) c.*3127G>A (n.*3127G>A) n.3273G>A c.*3205G>A (n.*3205G>A) n.364G>A c.3512G>A (p.Gly1171Asp) c.3470G>A (p.Gly1157Asp) c.3734G>A (p.Gly1245Asp) c.3656G>A (p.Gly1219Asp) c.3623G>A (p.Gly1208Asp) c.3632G>A (p.Gly1211Asp) c.2642G>A (p.Gly881Asp) | |
1 | g.154584883C>A | CA342634592 | ADAR | c.3498G>T (n.3498G>T) c.3634G>T (p.Gly1212Cys) c.3487G>T (p.Gly1163Cys) c.3256G>T (p.Gly1086Cys) c.2719G>T (p.Gly907Cys) c.3604G>T (p.Gly1202Cys) n.2397G>T c.3526G>T (p.Gly1176Cys) n.3589G>T c.*1079G>T (n.*1079G>T) n.4340G>T c.*770G>T (n.*770G>T) c.*1836G>T (n.*1836G>T) n.4465G>T c.2662G>T (p.Gly888Cys) c.3421G>T (p.Gly1141Cys) c.*3126G>T (n.*3126G>T) n.3272G>T c.*3204G>T (n.*3204G>T) n.363G>T c.3511G>T (p.Gly1171Cys) c.3469G>T (p.Gly1157Cys) c.3733G>T (p.Gly1245Cys) c.3655G>T (p.Gly1219Cys) c.3622G>T (p.Gly1208Cys) c.3631G>T (p.Gly1211Cys) c.2641G>T (p.Gly881Cys) | |
1 | g.154584883C>G | CA342634591 | ADAR | c.3498G>C (n.3498G>C) c.3634G>C (p.Gly1212Arg) c.3487G>C (p.Gly1163Arg) c.3256G>C (p.Gly1086Arg) c.2719G>C (p.Gly907Arg) c.3604G>C (p.Gly1202Arg) n.2397G>C c.3526G>C (p.Gly1176Arg) n.3589G>C c.*1079G>C (n.*1079G>C) n.4340G>C c.*770G>C (n.*770G>C) c.*1836G>C (n.*1836G>C) n.4465G>C c.2662G>C (p.Gly888Arg) c.3421G>C (p.Gly1141Arg) c.*3126G>C (n.*3126G>C) n.3272G>C c.*3204G>C (n.*3204G>C) n.363G>C c.3511G>C (p.Gly1171Arg) c.3469G>C (p.Gly1157Arg) c.3733G>C (p.Gly1245Arg) c.3655G>C (p.Gly1219Arg) c.3622G>C (p.Gly1208Arg) c.3631G>C (p.Gly1211Arg) c.2641G>C (p.Gly881Arg) | |
1 | g.154584883C>T | CA342634590 | ADAR | c.3498G>A (n.3498G>A) c.3634G>A (p.Gly1212Ser) c.3487G>A (p.Gly1163Ser) c.3256G>A (p.Gly1086Ser) c.2719G>A (p.Gly907Ser) c.3604G>A (p.Gly1202Ser) n.2397G>A c.3526G>A (p.Gly1176Ser) n.3589G>A c.*1079G>A (n.*1079G>A) n.4340G>A c.*770G>A (n.*770G>A) c.*1836G>A (n.*1836G>A) n.4465G>A c.2662G>A (p.Gly888Ser) c.3421G>A (p.Gly1141Ser) c.*3126G>A (n.*3126G>A) n.3272G>A c.*3204G>A (n.*3204G>A) n.363G>A c.3511G>A (p.Gly1171Ser) c.3469G>A (p.Gly1157Ser) c.3733G>A (p.Gly1245Ser) c.3655G>A (p.Gly1219Ser) c.3622G>A (p.Gly1208Ser) c.3631G>A (p.Gly1211Ser) c.2641G>A (p.Gly881Ser) | |
1 | g.154584884T>A | CA342634593 | ADAR | c.3497A>T (n.3497A>T) c.3633A>T (p.Lys1211Asn) c.3486A>T (p.Lys1162Asn) c.3255A>T (p.Lys1085Asn) c.2718A>T (p.Lys906Asn) c.3603A>T (p.Lys1201Asn) n.2396A>T c.3525A>T (p.Lys1175Asn) n.3588A>T c.*1078A>T (n.*1078A>T) n.4339A>T c.*769A>T (n.*769A>T) c.*1835A>T (n.*1835A>T) n.4464A>T c.2661A>T (p.Lys887Asn) c.3420A>T (p.Lys1140Asn) c.*3125A>T (n.*3125A>T) n.3271A>T c.*3203A>T (n.*3203A>T) n.362A>T c.3510A>T (p.Lys1170Asn) c.3468A>T (p.Lys1156Asn) c.3732A>T (p.Lys1244Asn) c.3654A>T (p.Lys1218Asn) c.3621A>T (p.Lys1207Asn) c.3630A>T (p.Lys1210Asn) c.2640A>T (p.Lys880Asn) | |
1 | g.154584884T>C | CA421231414 | ADAR | c.3497A>G (n.3497A>G) c.3633A>G (p.Lys1211=) c.3486A>G (p.Lys1162=) c.3255A>G (p.Lys1085=) c.2718A>G (p.Lys906=) c.3603A>G (p.Lys1201=) n.2396A>G c.3525A>G (p.Lys1175=) n.3588A>G c.*1078A>G (n.*1078A>G) n.4339A>G c.*769A>G (n.*769A>G) c.*1835A>G (n.*1835A>G) n.4464A>G c.2661A>G (p.Lys887=) c.3420A>G (p.Lys1140=) c.*3125A>G (n.*3125A>G) n.3271A>G c.*3203A>G (n.*3203A>G) n.362A>G c.3510A>G (p.Lys1170=) c.3468A>G (p.Lys1156=) c.3732A>G (p.Lys1244=) c.3654A>G (p.Lys1218=) c.3621A>G (p.Lys1207=) c.3630A>G (p.Lys1210=) c.2640A>G (p.Lys880=) | |
1 | g.154584884T>G | CA342634594 | ADAR | c.3497A>C (n.3497A>C) c.3633A>C (p.Lys1211Asn) c.3486A>C (p.Lys1162Asn) c.3255A>C (p.Lys1085Asn) c.2718A>C (p.Lys906Asn) c.3603A>C (p.Lys1201Asn) n.2396A>C c.3525A>C (p.Lys1175Asn) n.3588A>C c.*1078A>C (n.*1078A>C) n.4339A>C c.*769A>C (n.*769A>C) c.*1835A>C (n.*1835A>C) n.4464A>C c.2661A>C (p.Lys887Asn) c.3420A>C (p.Lys1140Asn) c.*3125A>C (n.*3125A>C) n.3271A>C c.*3203A>C (n.*3203A>C) n.362A>C c.3510A>C (p.Lys1170Asn) c.3468A>C (p.Lys1156Asn) c.3732A>C (p.Lys1244Asn) c.3654A>C (p.Lys1218Asn) c.3621A>C (p.Lys1207Asn) c.3630A>C (p.Lys1210Asn) c.2640A>C (p.Lys880Asn) | |
1 | g.154584889del | CA2586967334 | ADAR | c.3497del (n.3497del) c.3633del (p.Gly1212AlafsTer2) c.3486del (p.Gly1163AlafsTer2) c.3255del (p.Gly1086AlafsTer2) c.2718del (p.Gly907AlafsTer2) c.3603del (p.Gly1202AlafsTer2) n.2396del c.3525del (p.Gly1176AlafsTer2) n.3588del c.*1078del (n.*1078del) n.4339del c.*769del (n.*769del) c.*1835del (n.*1835del) n.4464del c.2661del (p.Gly888AlafsTer2) c.3420del (p.Gly1141AlafsTer2) c.*3125del (n.*3125del) n.3271del c.*3203del (n.*3203del) n.362del c.3510del (p.Gly1171AlafsTer2) c.3468del (p.Gly1157AlafsTer2) c.3732del (p.Gly1245AlafsTer2) c.3654del (p.Gly1219AlafsTer2) c.3621del (p.Gly1208AlafsTer2) c.3630del (p.Gly1211AlafsTer2) c.2640del (p.Gly881AlafsTer2) | |
1 | g.154584885T>A | CA342634595 | ADAR | c.3496A>T (n.3496A>T) c.3632A>T (p.Lys1211Ile) c.3485A>T (p.Lys1162Ile) c.3254A>T (p.Lys1085Ile) c.2717A>T (p.Lys906Ile) c.3602A>T (p.Lys1201Ile) n.2395A>T c.3524A>T (p.Lys1175Ile) n.3587A>T c.*1077A>T (n.*1077A>T) n.4338A>T c.*768A>T (n.*768A>T) c.*1834A>T (n.*1834A>T) n.4463A>T c.2660A>T (p.Lys887Ile) c.3419A>T (p.Lys1140Ile) c.*3124A>T (n.*3124A>T) n.3270A>T c.*3202A>T (n.*3202A>T) n.361A>T c.3509A>T (p.Lys1170Ile) c.3467A>T (p.Lys1156Ile) c.3731A>T (p.Lys1244Ile) c.3653A>T (p.Lys1218Ile) c.3620A>T (p.Lys1207Ile) c.3629A>T (p.Lys1210Ile) c.2639A>T (p.Lys880Ile) | |
1 | g.154584885T>C | CA342634596 | ADAR | c.3496A>G (n.3496A>G) c.3632A>G (p.Lys1211Arg) c.3485A>G (p.Lys1162Arg) c.3254A>G (p.Lys1085Arg) c.2717A>G (p.Lys906Arg) c.3602A>G (p.Lys1201Arg) n.2395A>G c.3524A>G (p.Lys1175Arg) n.3587A>G c.*1077A>G (n.*1077A>G) n.4338A>G c.*768A>G (n.*768A>G) c.*1834A>G (n.*1834A>G) n.4463A>G c.2660A>G (p.Lys887Arg) c.3419A>G (p.Lys1140Arg) c.*3124A>G (n.*3124A>G) n.3270A>G c.*3202A>G (n.*3202A>G) n.361A>G c.3509A>G (p.Lys1170Arg) c.3467A>G (p.Lys1156Arg) c.3731A>G (p.Lys1244Arg) c.3653A>G (p.Lys1218Arg) c.3620A>G (p.Lys1207Arg) c.3629A>G (p.Lys1210Arg) c.2639A>G (p.Lys880Arg) | gnomAD v4 |
1 | g.154584885T>G | CA342634597 | ADAR | c.3496A>C (n.3496A>C) c.3632A>C (p.Lys1211Thr) c.3485A>C (p.Lys1162Thr) c.3254A>C (p.Lys1085Thr) c.2717A>C (p.Lys906Thr) c.3602A>C (p.Lys1201Thr) n.2395A>C c.3524A>C (p.Lys1175Thr) n.3587A>C c.*1077A>C (n.*1077A>C) n.4338A>C c.*768A>C (n.*768A>C) c.*1834A>C (n.*1834A>C) n.4463A>C c.2660A>C (p.Lys887Thr) c.3419A>C (p.Lys1140Thr) c.*3124A>C (n.*3124A>C) n.3270A>C c.*3202A>C (n.*3202A>C) n.361A>C c.3509A>C (p.Lys1170Thr) c.3467A>C (p.Lys1156Thr) c.3731A>C (p.Lys1244Thr) c.3653A>C (p.Lys1218Thr) c.3620A>C (p.Lys1207Thr) c.3629A>C (p.Lys1210Thr) c.2639A>C (p.Lys880Thr) | |
1 | g.154584886T>A | CA342634598 | ADAR | c.3495A>T (n.3495A>T) c.3631A>T (p.Lys1211Ter) c.3484A>T (p.Lys1162Ter) c.3253A>T (p.Lys1085Ter) c.2716A>T (p.Lys906Ter) c.3601A>T (p.Lys1201Ter) n.2394A>T c.3523A>T (p.Lys1175Ter) n.3586A>T c.*1076A>T (n.*1076A>T) n.4337A>T c.*767A>T (n.*767A>T) c.*1833A>T (n.*1833A>T) n.4462A>T c.2659A>T (p.Lys887Ter) c.3418A>T (p.Lys1140Ter) c.*3123A>T (n.*3123A>T) n.3269A>T c.*3201A>T (n.*3201A>T) n.360A>T c.3508A>T (p.Lys1170Ter) c.3466A>T (p.Lys1156Ter) c.3730A>T (p.Lys1244Ter) c.3652A>T (p.Lys1218Ter) c.3619A>T (p.Lys1207Ter) c.3628A>T (p.Lys1210Ter) c.2638A>T (p.Lys880Ter) | |
1 | g.154584886T>C | CA342634599 | ADAR | c.3495A>G (n.3495A>G) c.3631A>G (p.Lys1211Glu) c.3484A>G (p.Lys1162Glu) c.3253A>G (p.Lys1085Glu) c.2716A>G (p.Lys906Glu) c.3601A>G (p.Lys1201Glu) n.2394A>G c.3523A>G (p.Lys1175Glu) n.3586A>G c.*1076A>G (n.*1076A>G) n.4337A>G c.*767A>G (n.*767A>G) c.*1833A>G (n.*1833A>G) n.4462A>G c.2659A>G (p.Lys887Glu) c.3418A>G (p.Lys1140Glu) c.*3123A>G (n.*3123A>G) n.3269A>G c.*3201A>G (n.*3201A>G) n.360A>G c.3508A>G (p.Lys1170Glu) c.3466A>G (p.Lys1156Glu) c.3730A>G (p.Lys1244Glu) c.3652A>G (p.Lys1218Glu) c.3619A>G (p.Lys1207Glu) c.3628A>G (p.Lys1210Glu) c.2638A>G (p.Lys880Glu) | |
1 | g.154584886T>G | CA342634600 | ADAR | c.3495A>C (n.3495A>C) c.3631A>C (p.Lys1211Gln) c.3484A>C (p.Lys1162Gln) c.3253A>C (p.Lys1085Gln) c.2716A>C (p.Lys906Gln) c.3601A>C (p.Lys1201Gln) n.2394A>C c.3523A>C (p.Lys1175Gln) n.3586A>C c.*1076A>C (n.*1076A>C) n.4337A>C c.*767A>C (n.*767A>C) c.*1833A>C (n.*1833A>C) n.4462A>C c.2659A>C (p.Lys887Gln) c.3418A>C (p.Lys1140Gln) c.*3123A>C (n.*3123A>C) n.3269A>C c.*3201A>C (n.*3201A>C) n.360A>C c.3508A>C (p.Lys1170Gln) c.3466A>C (p.Lys1156Gln) c.3730A>C (p.Lys1244Gln) c.3652A>C (p.Lys1218Gln) c.3619A>C (p.Lys1207Gln) c.3628A>C (p.Lys1210Gln) c.2638A>C (p.Lys880Gln) | |
1 | g.154584887T>A | CA342634601 | ADAR | c.3494A>T (n.3494A>T) c.3630A>T (p.Lys1210Asn) c.3483A>T (p.Lys1161Asn) c.3252A>T (p.Lys1084Asn) c.2715A>T (p.Lys905Asn) c.3600A>T (p.Lys1200Asn) n.2393A>T c.3522A>T (p.Lys1174Asn) n.3585A>T c.*1075A>T (n.*1075A>T) n.4336A>T c.*766A>T (n.*766A>T) c.*1832A>T (n.*1832A>T) n.4461A>T c.2658A>T (p.Lys886Asn) c.3417A>T (p.Lys1139Asn) c.*3122A>T (n.*3122A>T) n.3268A>T c.*3200A>T (n.*3200A>T) n.359A>T c.3507A>T (p.Lys1169Asn) c.3465A>T (p.Lys1155Asn) c.3729A>T (p.Lys1243Asn) c.3651A>T (p.Lys1217Asn) c.3618A>T (p.Lys1206Asn) c.3627A>T (p.Lys1209Asn) c.2637A>T (p.Lys879Asn) | |
1 | g.154584887T>C | CA421231416 | ADAR | c.3494A>G (n.3494A>G) c.3630A>G (p.Lys1210=) c.3483A>G (p.Lys1161=) c.3252A>G (p.Lys1084=) c.2715A>G (p.Lys905=) c.3600A>G (p.Lys1200=) n.2393A>G c.3522A>G (p.Lys1174=) n.3585A>G c.*1075A>G (n.*1075A>G) n.4336A>G c.*766A>G (n.*766A>G) c.*1832A>G (n.*1832A>G) n.4461A>G c.2658A>G (p.Lys886=) c.3417A>G (p.Lys1139=) c.*3122A>G (n.*3122A>G) n.3268A>G c.*3200A>G (n.*3200A>G) n.359A>G c.3507A>G (p.Lys1169=) c.3465A>G (p.Lys1155=) c.3729A>G (p.Lys1243=) c.3651A>G (p.Lys1217=) c.3618A>G (p.Lys1206=) c.3627A>G (p.Lys1209=) c.2637A>G (p.Lys879=) | |
1 | g.154584887T>G | CA342634602 | ADAR | c.3494A>C (n.3494A>C) c.3630A>C (p.Lys1210Asn) c.3483A>C (p.Lys1161Asn) c.3252A>C (p.Lys1084Asn) c.2715A>C (p.Lys905Asn) c.3600A>C (p.Lys1200Asn) n.2393A>C c.3522A>C (p.Lys1174Asn) n.3585A>C c.*1075A>C (n.*1075A>C) n.4336A>C c.*766A>C (n.*766A>C) c.*1832A>C (n.*1832A>C) n.4461A>C c.2658A>C (p.Lys886Asn) c.3417A>C (p.Lys1139Asn) c.*3122A>C (n.*3122A>C) n.3268A>C c.*3200A>C (n.*3200A>C) n.359A>C c.3507A>C (p.Lys1169Asn) c.3465A>C (p.Lys1155Asn) c.3729A>C (p.Lys1243Asn) c.3651A>C (p.Lys1217Asn) c.3618A>C (p.Lys1206Asn) c.3627A>C (p.Lys1209Asn) c.2637A>C (p.Lys879Asn) | |
1 | g.154584888T>A | CA342634603 | ADAR | c.3493A>T (n.3493A>T) c.3629A>T (p.Lys1210Ile) c.3482A>T (p.Lys1161Ile) c.3251A>T (p.Lys1084Ile) c.2714A>T (p.Lys905Ile) c.3599A>T (p.Lys1200Ile) n.2392A>T c.3521A>T (p.Lys1174Ile) n.3584A>T c.*1074A>T (n.*1074A>T) n.4335A>T c.*765A>T (n.*765A>T) c.*1831A>T (n.*1831A>T) n.4460A>T c.2657A>T (p.Lys886Ile) c.3416A>T (p.Lys1139Ile) c.*3121A>T (n.*3121A>T) n.3267A>T c.*3199A>T (n.*3199A>T) n.358A>T c.3506A>T (p.Lys1169Ile) c.3464A>T (p.Lys1155Ile) c.3728A>T (p.Lys1243Ile) c.3650A>T (p.Lys1217Ile) c.3617A>T (p.Lys1206Ile) c.3626A>T (p.Lys1209Ile) c.2636A>T (p.Lys879Ile) | |
1 | g.154584888T>C | CA342634604 | ADAR | c.3493A>G (n.3493A>G) c.3629A>G (p.Lys1210Arg) c.3482A>G (p.Lys1161Arg) c.3251A>G (p.Lys1084Arg) c.2714A>G (p.Lys905Arg) c.3599A>G (p.Lys1200Arg) n.2392A>G c.3521A>G (p.Lys1174Arg) n.3584A>G c.*1074A>G (n.*1074A>G) n.4335A>G c.*765A>G (n.*765A>G) c.*1831A>G (n.*1831A>G) n.4460A>G c.2657A>G (p.Lys886Arg) c.3416A>G (p.Lys1139Arg) c.*3121A>G (n.*3121A>G) n.3267A>G c.*3199A>G (n.*3199A>G) n.358A>G c.3506A>G (p.Lys1169Arg) c.3464A>G (p.Lys1155Arg) c.3728A>G (p.Lys1243Arg) c.3650A>G (p.Lys1217Arg) c.3617A>G (p.Lys1206Arg) c.3626A>G (p.Lys1209Arg) c.2636A>G (p.Lys879Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154584888T>G | CA342634605 | ADAR | c.3493A>C (n.3493A>C) c.3629A>C (p.Lys1210Thr) c.3482A>C (p.Lys1161Thr) c.3251A>C (p.Lys1084Thr) c.2714A>C (p.Lys905Thr) c.3599A>C (p.Lys1200Thr) n.2392A>C c.3521A>C (p.Lys1174Thr) n.3584A>C c.*1074A>C (n.*1074A>C) n.4335A>C c.*765A>C (n.*765A>C) c.*1831A>C (n.*1831A>C) n.4460A>C c.2657A>C (p.Lys886Thr) c.3416A>C (p.Lys1139Thr) c.*3121A>C (n.*3121A>C) n.3267A>C c.*3199A>C (n.*3199A>C) n.358A>C c.3506A>C (p.Lys1169Thr) c.3464A>C (p.Lys1155Thr) c.3728A>C (p.Lys1243Thr) c.3650A>C (p.Lys1217Thr) c.3617A>C (p.Lys1206Thr) c.3626A>C (p.Lys1209Thr) c.2636A>C (p.Lys879Thr) | |
1 | g.154584888T= | CA2480931192 | ADAR | c.3493A= (n.3493A=) c.3629A= (p.Lys1210=) c.3482A= (p.Lys1161=) c.3251A= (p.Lys1084=) c.2714A= (p.Lys905=) c.3599A= (p.Lys1200=) n.2392A= c.3521A= (p.Lys1174=) n.3584A= c.*1074A= (n.*1074A=) n.4335A= c.*765A= (n.*765A=) c.*1831A= (n.*1831A=) n.4460A= c.2657A= (p.Lys886=) c.3416A= (p.Lys1139=) c.*3121A= (n.*3121A=) n.3267A= c.*3199A= (n.*3199A=) n.358A= c.3506A= (p.Lys1169=) c.3464A= (p.Lys1155=) c.3728A= (p.Lys1243=) c.3650A= (p.Lys1217=) c.3617A= (p.Lys1206=) c.3626A= (p.Lys1209=) c.2636A= (p.Lys879=) | |
1 | g.154584889T>A | CA342634607 | ADAR | c.3492A>T (n.3492A>T) c.3628A>T (p.Lys1210Ter) c.3481A>T (p.Lys1161Ter) c.3250A>T (p.Lys1084Ter) c.2713A>T (p.Lys905Ter) c.3598A>T (p.Lys1200Ter) n.2391A>T c.3520A>T (p.Lys1174Ter) n.3583A>T c.*1073A>T (n.*1073A>T) n.4334A>T c.*764A>T (n.*764A>T) c.*1830A>T (n.*1830A>T) n.4459A>T c.2656A>T (p.Lys886Ter) c.3415A>T (p.Lys1139Ter) c.*3120A>T (n.*3120A>T) n.3266A>T c.*3198A>T (n.*3198A>T) n.357A>T c.3505A>T (p.Lys1169Ter) c.3463A>T (p.Lys1155Ter) c.3727A>T (p.Lys1243Ter) c.3649A>T (p.Lys1217Ter) c.3616A>T (p.Lys1206Ter) c.3625A>T (p.Lys1209Ter) c.2635A>T (p.Lys879Ter) | |
1 | g.154584889T>C | CA342634608 | ADAR | c.3492A>G (n.3492A>G) c.3628A>G (p.Lys1210Glu) c.3481A>G (p.Lys1161Glu) c.3250A>G (p.Lys1084Glu) c.2713A>G (p.Lys905Glu) c.3598A>G (p.Lys1200Glu) n.2391A>G c.3520A>G (p.Lys1174Glu) n.3583A>G c.*1073A>G (n.*1073A>G) n.4334A>G c.*764A>G (n.*764A>G) c.*1830A>G (n.*1830A>G) n.4459A>G c.2656A>G (p.Lys886Glu) c.3415A>G (p.Lys1139Glu) c.*3120A>G (n.*3120A>G) n.3266A>G c.*3198A>G (n.*3198A>G) n.357A>G c.3505A>G (p.Lys1169Glu) c.3463A>G (p.Lys1155Glu) c.3727A>G (p.Lys1243Glu) c.3649A>G (p.Lys1217Glu) c.3616A>G (p.Lys1206Glu) c.3625A>G (p.Lys1209Glu) c.2635A>G (p.Lys879Glu) | |
1 | g.154584889T>G | CA342634606 | ADAR | c.3492A>C (n.3492A>C) c.3628A>C (p.Lys1210Gln) c.3481A>C (p.Lys1161Gln) c.3250A>C (p.Lys1084Gln) c.2713A>C (p.Lys905Gln) c.3598A>C (p.Lys1200Gln) n.2391A>C c.3520A>C (p.Lys1174Gln) n.3583A>C c.*1073A>C (n.*1073A>C) n.4334A>C c.*764A>C (n.*764A>C) c.*1830A>C (n.*1830A>C) n.4459A>C c.2656A>C (p.Lys886Gln) c.3415A>C (p.Lys1139Gln) c.*3120A>C (n.*3120A>C) n.3266A>C c.*3198A>C (n.*3198A>C) n.357A>C c.3505A>C (p.Lys1169Gln) c.3463A>C (p.Lys1155Gln) c.3727A>C (p.Lys1243Gln) c.3649A>C (p.Lys1217Gln) c.3616A>C (p.Lys1206Gln) c.3625A>C (p.Lys1209Gln) c.2635A>C (p.Lys879Gln) | ClinVar dbSNP gnomAD v4 |
1 | g.154584890G>A | CA421231419 | ADAR | c.3491C>T (n.3491C>T) c.3627C>T (p.Phe1209=) c.3480C>T (p.Phe1160=) c.3249C>T (p.Phe1083=) c.2712C>T (p.Phe904=) c.3597C>T (p.Phe1199=) n.2390C>T c.3519C>T (p.Phe1173=) n.3582C>T c.*1072C>T (n.*1072C>T) n.4333C>T c.*763C>T (n.*763C>T) c.*1829C>T (n.*1829C>T) n.4458C>T c.2655C>T (p.Phe885=) c.3414C>T (p.Phe1138=) c.*3119C>T (n.*3119C>T) n.3265C>T c.*3197C>T (n.*3197C>T) n.356C>T c.3504C>T (p.Phe1168=) c.3462C>T (p.Phe1154=) c.3726C>T (p.Phe1242=) c.3648C>T (p.Phe1216=) c.3615C>T (p.Phe1205=) c.3624C>T (p.Phe1208=) c.2634C>T (p.Phe878=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154584890G>C | CA342634609 | ADAR | c.3491C>G (n.3491C>G) c.3627C>G (p.Phe1209Leu) c.3480C>G (p.Phe1160Leu) c.3249C>G (p.Phe1083Leu) c.2712C>G (p.Phe904Leu) c.3597C>G (p.Phe1199Leu) n.2390C>G c.3519C>G (p.Phe1173Leu) n.3582C>G c.*1072C>G (n.*1072C>G) n.4333C>G c.*763C>G (n.*763C>G) c.*1829C>G (n.*1829C>G) n.4458C>G c.2655C>G (p.Phe885Leu) c.3414C>G (p.Phe1138Leu) c.*3119C>G (n.*3119C>G) n.3265C>G c.*3197C>G (n.*3197C>G) n.356C>G c.3504C>G (p.Phe1168Leu) c.3462C>G (p.Phe1154Leu) c.3726C>G (p.Phe1242Leu) c.3648C>G (p.Phe1216Leu) c.3615C>G (p.Phe1205Leu) c.3624C>G (p.Phe1208Leu) c.2634C>G (p.Phe878Leu) | |
1 | g.154584890G= | CA2480931193 | ADAR | c.3491C= (n.3491C=) c.3627C= (p.Phe1209=) c.3480C= (p.Phe1160=) c.3249C= (p.Phe1083=) c.2712C= (p.Phe904=) c.3597C= (p.Phe1199=) n.2390C= c.3519C= (p.Phe1173=) n.3582C= c.*1072C= (n.*1072C=) n.4333C= c.*763C= (n.*763C=) c.*1829C= (n.*1829C=) n.4458C= c.2655C= (p.Phe885=) c.3414C= (p.Phe1138=) c.*3119C= (n.*3119C=) n.3265C= c.*3197C= (n.*3197C=) n.356C= c.3504C= (p.Phe1168=) c.3462C= (p.Phe1154=) c.3726C= (p.Phe1242=) c.3648C= (p.Phe1216=) c.3615C= (p.Phe1205=) c.3624C= (p.Phe1208=) c.2634C= (p.Phe878=) | |
1 | g.154584890G>T | CA342634610 | ADAR | c.3491C>A (n.3491C>A) c.3627C>A (p.Phe1209Leu) c.3480C>A (p.Phe1160Leu) c.3249C>A (p.Phe1083Leu) c.2712C>A (p.Phe904Leu) c.3597C>A (p.Phe1199Leu) n.2390C>A c.3519C>A (p.Phe1173Leu) n.3582C>A c.*1072C>A (n.*1072C>A) n.4333C>A c.*763C>A (n.*763C>A) c.*1829C>A (n.*1829C>A) n.4458C>A c.2655C>A (p.Phe885Leu) c.3414C>A (p.Phe1138Leu) c.*3119C>A (n.*3119C>A) n.3265C>A c.*3197C>A (n.*3197C>A) n.356C>A c.3504C>A (p.Phe1168Leu) c.3462C>A (p.Phe1154Leu) c.3726C>A (p.Phe1242Leu) c.3648C>A (p.Phe1216Leu) c.3615C>A (p.Phe1205Leu) c.3624C>A (p.Phe1208Leu) c.2634C>A (p.Phe878Leu) | |
1 | g.154584891A>C | CA342634611 | ADAR | c.3490T>G (n.3490T>G) c.3626T>G (p.Phe1209Cys) c.3479T>G (p.Phe1160Cys) c.3248T>G (p.Phe1083Cys) c.2711T>G (p.Phe904Cys) c.3596T>G (p.Phe1199Cys) n.2389T>G c.3518T>G (p.Phe1173Cys) n.3581T>G c.*1071T>G (n.*1071T>G) n.4332T>G c.*762T>G (n.*762T>G) c.*1828T>G (n.*1828T>G) n.4457T>G c.2654T>G (p.Phe885Cys) c.3413T>G (p.Phe1138Cys) c.*3118T>G (n.*3118T>G) n.3264T>G c.*3196T>G (n.*3196T>G) n.355T>G c.3503T>G (p.Phe1168Cys) c.3461T>G (p.Phe1154Cys) c.3725T>G (p.Phe1242Cys) c.3647T>G (p.Phe1216Cys) c.3614T>G (p.Phe1205Cys) c.3623T>G (p.Phe1208Cys) c.2633T>G (p.Phe878Cys) | |
1 | g.154584891A>G | CA342634612 | ADAR | c.3490T>C (n.3490T>C) c.3626T>C (p.Phe1209Ser) c.3479T>C (p.Phe1160Ser) c.3248T>C (p.Phe1083Ser) c.2711T>C (p.Phe904Ser) c.3596T>C (p.Phe1199Ser) n.2389T>C c.3518T>C (p.Phe1173Ser) n.3581T>C c.*1071T>C (n.*1071T>C) n.4332T>C c.*762T>C (n.*762T>C) c.*1828T>C (n.*1828T>C) n.4457T>C c.2654T>C (p.Phe885Ser) c.3413T>C (p.Phe1138Ser) c.*3118T>C (n.*3118T>C) n.3264T>C c.*3196T>C (n.*3196T>C) n.355T>C c.3503T>C (p.Phe1168Ser) c.3461T>C (p.Phe1154Ser) c.3725T>C (p.Phe1242Ser) c.3647T>C (p.Phe1216Ser) c.3614T>C (p.Phe1205Ser) c.3623T>C (p.Phe1208Ser) c.2633T>C (p.Phe878Ser) | |
1 | g.154584891A>T | CA342634613 | ADAR | c.3490T>A (n.3490T>A) c.3626T>A (p.Phe1209Tyr) c.3479T>A (p.Phe1160Tyr) c.3248T>A (p.Phe1083Tyr) c.2711T>A (p.Phe904Tyr) c.3596T>A (p.Phe1199Tyr) n.2389T>A c.3518T>A (p.Phe1173Tyr) n.3581T>A c.*1071T>A (n.*1071T>A) n.4332T>A c.*762T>A (n.*762T>A) c.*1828T>A (n.*1828T>A) n.4457T>A c.2654T>A (p.Phe885Tyr) c.3413T>A (p.Phe1138Tyr) c.*3118T>A (n.*3118T>A) n.3264T>A c.*3196T>A (n.*3196T>A) n.355T>A c.3503T>A (p.Phe1168Tyr) c.3461T>A (p.Phe1154Tyr) c.3725T>A (p.Phe1242Tyr) c.3647T>A (p.Phe1216Tyr) c.3614T>A (p.Phe1205Tyr) c.3623T>A (p.Phe1208Tyr) c.2633T>A (p.Phe878Tyr) | |
1 | g.154584892A>C | CA342634616 | ADAR | c.3489T>G (n.3489T>G) c.3625T>G (p.Phe1209Val) c.3478T>G (p.Phe1160Val) c.3247T>G (p.Phe1083Val) c.2710T>G (p.Phe904Val) c.3595T>G (p.Phe1199Val) n.2388T>G c.3517T>G (p.Phe1173Val) n.3580T>G c.*1070T>G (n.*1070T>G) n.4331T>G c.*761T>G (n.*761T>G) c.*1827T>G (n.*1827T>G) n.4456T>G c.2653T>G (p.Phe885Val) c.3412T>G (p.Phe1138Val) c.*3117T>G (n.*3117T>G) n.3263T>G c.*3195T>G (n.*3195T>G) n.354T>G c.3502T>G (p.Phe1168Val) c.3460T>G (p.Phe1154Val) c.3724T>G (p.Phe1242Val) c.3646T>G (p.Phe1216Val) c.3613T>G (p.Phe1205Val) c.3622T>G (p.Phe1208Val) c.2632T>G (p.Phe878Val) | |
1 | g.154584892A>G | CA342634614 | ADAR | c.3489T>C (n.3489T>C) c.3625T>C (p.Phe1209Leu) c.3478T>C (p.Phe1160Leu) c.3247T>C (p.Phe1083Leu) c.2710T>C (p.Phe904Leu) c.3595T>C (p.Phe1199Leu) n.2388T>C c.3517T>C (p.Phe1173Leu) n.3580T>C c.*1070T>C (n.*1070T>C) n.4331T>C c.*761T>C (n.*761T>C) c.*1827T>C (n.*1827T>C) n.4456T>C c.2653T>C (p.Phe885Leu) c.3412T>C (p.Phe1138Leu) c.*3117T>C (n.*3117T>C) n.3263T>C c.*3195T>C (n.*3195T>C) n.354T>C c.3502T>C (p.Phe1168Leu) c.3460T>C (p.Phe1154Leu) c.3724T>C (p.Phe1242Leu) c.3646T>C (p.Phe1216Leu) c.3613T>C (p.Phe1205Leu) c.3622T>C (p.Phe1208Leu) c.2632T>C (p.Phe878Leu) | |
1 | g.154584892A>T | CA342634615 | ADAR | c.3489T>A (n.3489T>A) c.3625T>A (p.Phe1209Ile) c.3478T>A (p.Phe1160Ile) c.3247T>A (p.Phe1083Ile) c.2710T>A (p.Phe904Ile) c.3595T>A (p.Phe1199Ile) n.2388T>A c.3517T>A (p.Phe1173Ile) n.3580T>A c.*1070T>A (n.*1070T>A) n.4331T>A c.*761T>A (n.*761T>A) c.*1827T>A (n.*1827T>A) n.4456T>A c.2653T>A (p.Phe885Ile) c.3412T>A (p.Phe1138Ile) c.*3117T>A (n.*3117T>A) n.3263T>A c.*3195T>A (n.*3195T>A) n.354T>A c.3502T>A (p.Phe1168Ile) c.3460T>A (p.Phe1154Ile) c.3724T>A (p.Phe1242Ile) c.3646T>A (p.Phe1216Ile) c.3613T>A (p.Phe1205Ile) c.3622T>A (p.Phe1208Ile) c.2632T>A (p.Phe878Ile) | |
1 | g.154584893G>A | CA421231423 | ADAR | c.3488C>T (n.3488C>T) c.3624C>T (p.Tyr1208=) c.3477C>T (p.Tyr1159=) c.3246C>T (p.Tyr1082=) c.2709C>T (p.Tyr903=) c.3594C>T (p.Tyr1198=) n.2387C>T c.3516C>T (p.Tyr1172=) n.3579C>T c.*1069C>T (n.*1069C>T) n.4330C>T c.*760C>T (n.*760C>T) c.*1826C>T (n.*1826C>T) n.4455C>T c.2652C>T (p.Tyr884=) c.3411C>T (p.Tyr1137=) c.*3116C>T (n.*3116C>T) n.3262C>T c.*3194C>T (n.*3194C>T) n.353C>T c.3501C>T (p.Tyr1167=) c.3459C>T (p.Tyr1153=) c.3723C>T (p.Tyr1241=) c.3645C>T (p.Tyr1215=) c.3612C>T (p.Tyr1204=) c.3621C>T (p.Tyr1207=) c.2631C>T (p.Tyr877=) | dbSNP |
1 | g.154584893G>C | CA342634617 | ADAR | c.3488C>G (n.3488C>G) c.3624C>G (p.Tyr1208Ter) c.3477C>G (p.Tyr1159Ter) c.3246C>G (p.Tyr1082Ter) c.2709C>G (p.Tyr903Ter) c.3594C>G (p.Tyr1198Ter) n.2387C>G c.3516C>G (p.Tyr1172Ter) n.3579C>G c.*1069C>G (n.*1069C>G) n.4330C>G c.*760C>G (n.*760C>G) c.*1826C>G (n.*1826C>G) n.4455C>G c.2652C>G (p.Tyr884Ter) c.3411C>G (p.Tyr1137Ter) c.*3116C>G (n.*3116C>G) n.3262C>G c.*3194C>G (n.*3194C>G) n.353C>G c.3501C>G (p.Tyr1167Ter) c.3459C>G (p.Tyr1153Ter) c.3723C>G (p.Tyr1241Ter) c.3645C>G (p.Tyr1215Ter) c.3612C>G (p.Tyr1204Ter) c.3621C>G (p.Tyr1207Ter) c.2631C>G (p.Tyr877Ter) | |
1 | g.154584893G= | CA2480931194 | ADAR | c.3488C= (n.3488C=) c.3624C= (p.Tyr1208=) c.3477C= (p.Tyr1159=) c.3246C= (p.Tyr1082=) c.2709C= (p.Tyr903=) c.3594C= (p.Tyr1198=) n.2387C= c.3516C= (p.Tyr1172=) n.3579C= c.*1069C= (n.*1069C=) n.4330C= c.*760C= (n.*760C=) c.*1826C= (n.*1826C=) n.4455C= c.2652C= (p.Tyr884=) c.3411C= (p.Tyr1137=) c.*3116C= (n.*3116C=) n.3262C= c.*3194C= (n.*3194C=) n.353C= c.3501C= (p.Tyr1167=) c.3459C= (p.Tyr1153=) c.3723C= (p.Tyr1241=) c.3645C= (p.Tyr1215=) c.3612C= (p.Tyr1204=) c.3621C= (p.Tyr1207=) c.2631C= (p.Tyr877=) | |
1 | g.154584893G>T | CA342634618 | ADAR | c.3488C>A (n.3488C>A) c.3624C>A (p.Tyr1208Ter) c.3477C>A (p.Tyr1159Ter) c.3246C>A (p.Tyr1082Ter) c.2709C>A (p.Tyr903Ter) c.3594C>A (p.Tyr1198Ter) n.2387C>A c.3516C>A (p.Tyr1172Ter) n.3579C>A c.*1069C>A (n.*1069C>A) n.4330C>A c.*760C>A (n.*760C>A) c.*1826C>A (n.*1826C>A) n.4455C>A c.2652C>A (p.Tyr884Ter) c.3411C>A (p.Tyr1137Ter) c.*3116C>A (n.*3116C>A) n.3262C>A c.*3194C>A (n.*3194C>A) n.353C>A c.3501C>A (p.Tyr1167Ter) c.3459C>A (p.Tyr1153Ter) c.3723C>A (p.Tyr1241Ter) c.3645C>A (p.Tyr1215Ter) c.3612C>A (p.Tyr1204Ter) c.3621C>A (p.Tyr1207Ter) c.2631C>A (p.Tyr877Ter) | gnomAD v4 |