WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92022274T>A | CA368127448 | AKAP9 | c.3874T>A (p.Phe1292Ile) c.*3603T>A (n.*3603T>A) n.4096T>A c.3820T>A (p.Phe1274Ile) c.*3659T>A (n.*3659T>A) c.3616T>A (p.Phe1206Ile) c.3907T>A (p.Phe1303Ile) n.4094T>A c.3898T>A (p.Phe1300Ile) c.3910T>A (p.Phe1304Ile) c.3856T>A (p.Phe1286Ile) c.3502T>A (p.Phe1168Ile) | |
| 7 | g.92022274T>C | CA10626496 | AKAP9 | c.3874T>C (p.Phe1292Leu) c.*3603T>C (n.*3603T>C) n.4096T>C c.3820T>C (p.Phe1274Leu) c.*3659T>C (n.*3659T>C) c.3616T>C (p.Phe1206Leu) c.3907T>C (p.Phe1303Leu) n.4094T>C c.3898T>C (p.Phe1300Leu) c.3910T>C (p.Phe1304Leu) c.3856T>C (p.Phe1286Leu) c.3502T>C (p.Phe1168Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.92022274T>G | CA368127449 | AKAP9 | c.3874T>G (p.Phe1292Val) c.*3603T>G (n.*3603T>G) n.4096T>G c.3820T>G (p.Phe1274Val) c.*3659T>G (n.*3659T>G) c.3616T>G (p.Phe1206Val) c.3907T>G (p.Phe1303Val) n.4094T>G c.3898T>G (p.Phe1300Val) c.3910T>G (p.Phe1304Val) c.3856T>G (p.Phe1286Val) c.3502T>G (p.Phe1168Val) | gnomAD v4 |
| 7 | g.92022274T= | CA1725744478 | AKAP9 | c.3874T= (p.Phe1292=) c.*3603T= (n.*3603T=) n.4096T= c.3820T= (p.Phe1274=) c.*3659T= (n.*3659T=) c.3616T= (p.Phe1206=) c.3907T= (p.Phe1303=) n.4094T= c.3898T= (p.Phe1300=) c.3910T= (p.Phe1304=) c.3856T= (p.Phe1286=) c.3502T= (p.Phe1168=) | |
| 7 | g.92022275T>A | CA368127450 | AKAP9 | c.3875T>A (p.Phe1292Tyr) c.*3604T>A (n.*3604T>A) n.4097T>A c.3821T>A (p.Phe1274Tyr) c.*3660T>A (n.*3660T>A) c.3617T>A (p.Phe1206Tyr) c.3908T>A (p.Phe1303Tyr) n.4095T>A c.3899T>A (p.Phe1300Tyr) c.3911T>A (p.Phe1304Tyr) c.3857T>A (p.Phe1286Tyr) c.3503T>A (p.Phe1168Tyr) | |
| 7 | g.92022275T>C | CA368127451 | AKAP9 | c.3875T>C (p.Phe1292Ser) c.*3604T>C (n.*3604T>C) n.4097T>C c.3821T>C (p.Phe1274Ser) c.*3660T>C (n.*3660T>C) c.3617T>C (p.Phe1206Ser) c.3908T>C (p.Phe1303Ser) n.4095T>C c.3899T>C (p.Phe1300Ser) c.3911T>C (p.Phe1304Ser) c.3857T>C (p.Phe1286Ser) c.3503T>C (p.Phe1168Ser) | dbSNP |
| 7 | g.92022275T>G | CA368127452 | AKAP9 | c.3875T>G (p.Phe1292Cys) c.*3604T>G (n.*3604T>G) n.4097T>G c.3821T>G (p.Phe1274Cys) c.*3660T>G (n.*3660T>G) c.3617T>G (p.Phe1206Cys) c.3908T>G (p.Phe1303Cys) n.4095T>G c.3899T>G (p.Phe1300Cys) c.3911T>G (p.Phe1304Cys) c.3857T>G (p.Phe1286Cys) c.3503T>G (p.Phe1168Cys) | gnomAD v4 |
| 7 | g.92022275T= | CA1725744482 | AKAP9 | c.3875T= (p.Phe1292=) c.*3604T= (n.*3604T=) n.4097T= c.3821T= (p.Phe1274=) c.*3660T= (n.*3660T=) c.3617T= (p.Phe1206=) c.3908T= (p.Phe1303=) n.4095T= c.3899T= (p.Phe1300=) c.3911T= (p.Phe1304=) c.3857T= (p.Phe1286=) c.3503T= (p.Phe1168=) | |
| 7 | g.92022276T>A | CA368127453 | AKAP9 | c.3876T>A (p.Phe1292Leu) c.*3605T>A (n.*3605T>A) n.4098T>A c.3822T>A (p.Phe1274Leu) c.*3661T>A (n.*3661T>A) c.3618T>A (p.Phe1206Leu) c.3909T>A (p.Phe1303Leu) n.4096T>A c.3900T>A (p.Phe1300Leu) c.3912T>A (p.Phe1304Leu) c.3858T>A (p.Phe1286Leu) c.3504T>A (p.Phe1168Leu) | |
| 7 | g.92022276T>C | CA456450668 | AKAP9 | c.3876T>C (p.Phe1292=) c.*3605T>C (n.*3605T>C) n.4098T>C c.3822T>C (p.Phe1274=) c.*3661T>C (n.*3661T>C) c.3618T>C (p.Phe1206=) c.3909T>C (p.Phe1303=) n.4096T>C c.3900T>C (p.Phe1300=) c.3912T>C (p.Phe1304=) c.3858T>C (p.Phe1286=) c.3504T>C (p.Phe1168=) | |
| 7 | g.92022276T>G | CA368127454 | AKAP9 | c.3876T>G (p.Phe1292Leu) c.*3605T>G (n.*3605T>G) n.4098T>G c.3822T>G (p.Phe1274Leu) c.*3661T>G (n.*3661T>G) c.3618T>G (p.Phe1206Leu) c.3909T>G (p.Phe1303Leu) n.4096T>G c.3900T>G (p.Phe1300Leu) c.3912T>G (p.Phe1304Leu) c.3858T>G (p.Phe1286Leu) c.3504T>G (p.Phe1168Leu) | |
| 7 | g.92022277G>A | CA368127455 | AKAP9 | c.3877G>A (p.Gly1293Arg) c.*3606G>A (n.*3606G>A) n.4099G>A c.3823G>A (p.Gly1275Arg) c.*3662G>A (n.*3662G>A) c.3619G>A (p.Gly1207Arg) c.3910G>A (p.Gly1304Arg) n.4097G>A c.3901G>A (p.Gly1301Arg) c.3913G>A (p.Gly1305Arg) c.3859G>A (p.Gly1287Arg) c.3505G>A (p.Gly1169Arg) | gnomAD v4 |
| 7 | g.92022277G>C | CA368127456 | AKAP9 | c.3877G>C (p.Gly1293Arg) c.*3606G>C (n.*3606G>C) n.4099G>C c.3823G>C (p.Gly1275Arg) c.*3662G>C (n.*3662G>C) c.3619G>C (p.Gly1207Arg) c.3910G>C (p.Gly1304Arg) n.4097G>C c.3901G>C (p.Gly1301Arg) c.3913G>C (p.Gly1305Arg) c.3859G>C (p.Gly1287Arg) c.3505G>C (p.Gly1169Arg) | |
| 7 | g.92022277G>T | CA368127457 | AKAP9 | c.3877G>T (p.Gly1293Ter) c.*3606G>T (n.*3606G>T) n.4099G>T c.3823G>T (p.Gly1275Ter) c.*3662G>T (n.*3662G>T) c.3619G>T (p.Gly1207Ter) c.3910G>T (p.Gly1304Ter) n.4097G>T c.3901G>T (p.Gly1301Ter) c.3913G>T (p.Gly1305Ter) c.3859G>T (p.Gly1287Ter) c.3505G>T (p.Gly1169Ter) | |
| 7 | g.92022278G>A | CA368127458 | AKAP9 | c.3878G>A (p.Gly1293Glu) c.*3607G>A (n.*3607G>A) n.4100G>A c.3824G>A (p.Gly1275Glu) c.*3663G>A (n.*3663G>A) c.3620G>A (p.Gly1207Glu) c.3911G>A (p.Gly1304Glu) n.4098G>A c.3902G>A (p.Gly1301Glu) c.3914G>A (p.Gly1305Glu) c.3860G>A (p.Gly1287Glu) c.3506G>A (p.Gly1169Glu) | |
| 7 | g.92022278G>C | CA368127460 | AKAP9 | c.3878G>C (p.Gly1293Ala) c.*3607G>C (n.*3607G>C) n.4100G>C c.3824G>C (p.Gly1275Ala) c.*3663G>C (n.*3663G>C) c.3620G>C (p.Gly1207Ala) c.3911G>C (p.Gly1304Ala) n.4098G>C c.3902G>C (p.Gly1301Ala) c.3914G>C (p.Gly1305Ala) c.3860G>C (p.Gly1287Ala) c.3506G>C (p.Gly1169Ala) | gnomAD v4 |
| 7 | g.92022278G>T | CA368127459 | AKAP9 | c.3878G>T (p.Gly1293Val) c.*3607G>T (n.*3607G>T) n.4100G>T c.3824G>T (p.Gly1275Val) c.*3663G>T (n.*3663G>T) c.3620G>T (p.Gly1207Val) c.3911G>T (p.Gly1304Val) n.4098G>T c.3902G>T (p.Gly1301Val) c.3914G>T (p.Gly1305Val) c.3860G>T (p.Gly1287Val) c.3506G>T (p.Gly1169Val) | |
| 7 | g.92022279A>C | CA456450672 | AKAP9 | c.3879A>C (p.Gly1293=) c.*3608A>C (n.*3608A>C) n.4101A>C c.3825A>C (p.Gly1275=) c.*3664A>C (n.*3664A>C) c.3621A>C (p.Gly1207=) c.3912A>C (p.Gly1304=) n.4099A>C c.3903A>C (p.Gly1301=) c.3915A>C (p.Gly1305=) c.3861A>C (p.Gly1287=) c.3507A>C (p.Gly1169=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.92022279A>G | CA456450673 | AKAP9 | c.3879A>G (p.Gly1293=) c.*3608A>G (n.*3608A>G) n.4101A>G c.3825A>G (p.Gly1275=) c.*3664A>G (n.*3664A>G) c.3621A>G (p.Gly1207=) c.3912A>G (p.Gly1304=) n.4099A>G c.3903A>G (p.Gly1301=) c.3915A>G (p.Gly1305=) c.3861A>G (p.Gly1287=) c.3507A>G (p.Gly1169=) | |
| 7 | g.92022279A>T | CA456450674 | AKAP9 | c.3879A>T (p.Gly1293=) c.*3608A>T (n.*3608A>T) n.4101A>T c.3825A>T (p.Gly1275=) c.*3664A>T (n.*3664A>T) c.3621A>T (p.Gly1207=) c.3912A>T (p.Gly1304=) n.4099A>T c.3903A>T (p.Gly1301=) c.3915A>T (p.Gly1305=) c.3861A>T (p.Gly1287=) c.3507A>T (p.Gly1169=) | |
| 7 | g.92022280G>A | CA368127461 | AKAP9 | c.3880G>A (p.Glu1294Lys) c.*3609G>A (n.*3609G>A) n.4102G>A c.3826G>A (p.Glu1276Lys) c.*3665G>A (n.*3665G>A) c.3622G>A (p.Glu1208Lys) c.3913G>A (p.Glu1305Lys) n.4100G>A c.3904G>A (p.Glu1302Lys) c.3916G>A (p.Glu1306Lys) c.3862G>A (p.Glu1288Lys) c.3508G>A (p.Glu1170Lys) | |
| 7 | g.92022280G>C | CA368127463 | AKAP9 | c.3880G>C (p.Glu1294Gln) c.*3609G>C (n.*3609G>C) n.4102G>C c.3826G>C (p.Glu1276Gln) c.*3665G>C (n.*3665G>C) c.3622G>C (p.Glu1208Gln) c.3913G>C (p.Glu1305Gln) n.4100G>C c.3904G>C (p.Glu1302Gln) c.3916G>C (p.Glu1306Gln) c.3862G>C (p.Glu1288Gln) c.3508G>C (p.Glu1170Gln) | |
| 7 | g.92022280G>T | CA368127462 | AKAP9 | c.3880G>T (p.Glu1294Ter) c.*3609G>T (n.*3609G>T) n.4102G>T c.3826G>T (p.Glu1276Ter) c.*3665G>T (n.*3665G>T) c.3622G>T (p.Glu1208Ter) c.3913G>T (p.Glu1305Ter) n.4100G>T c.3904G>T (p.Glu1302Ter) c.3916G>T (p.Glu1306Ter) c.3862G>T (p.Glu1288Ter) c.3508G>T (p.Glu1170Ter) | |
| 7 | g.92022281A>C | CA368127464 | AKAP9 | c.3881A>C (p.Glu1294Ala) c.*3610A>C (n.*3610A>C) n.4103A>C c.3827A>C (p.Glu1276Ala) c.*3666A>C (n.*3666A>C) c.3623A>C (p.Glu1208Ala) c.3914A>C (p.Glu1305Ala) n.4101A>C c.3905A>C (p.Glu1302Ala) c.3917A>C (p.Glu1306Ala) c.3863A>C (p.Glu1288Ala) c.3509A>C (p.Glu1170Ala) | |
| 7 | g.92022281A>G | CA368127466 | AKAP9 | c.3881A>G (p.Glu1294Gly) c.*3610A>G (n.*3610A>G) n.4103A>G c.3827A>G (p.Glu1276Gly) c.*3666A>G (n.*3666A>G) c.3623A>G (p.Glu1208Gly) c.3914A>G (p.Glu1305Gly) n.4101A>G c.3905A>G (p.Glu1302Gly) c.3917A>G (p.Glu1306Gly) c.3863A>G (p.Glu1288Gly) c.3509A>G (p.Glu1170Gly) | ClinVar gnomAD v4 |
| 7 | g.92022281A>T | CA368127465 | AKAP9 | c.3881A>T (p.Glu1294Val) c.*3610A>T (n.*3610A>T) n.4103A>T c.3827A>T (p.Glu1276Val) c.*3666A>T (n.*3666A>T) c.3623A>T (p.Glu1208Val) c.3914A>T (p.Glu1305Val) n.4101A>T c.3905A>T (p.Glu1302Val) c.3917A>T (p.Glu1306Val) c.3863A>T (p.Glu1288Val) c.3509A>T (p.Glu1170Val) | |
| 7 | g.92022282A>C | CA368127467 | AKAP9 | c.3882A>C (p.Glu1294Asp) c.*3611A>C (n.*3611A>C) n.4104A>C c.3828A>C (p.Glu1276Asp) c.*3667A>C (n.*3667A>C) c.3624A>C (p.Glu1208Asp) c.3915A>C (p.Glu1305Asp) n.4102A>C c.3906A>C (p.Glu1302Asp) c.3918A>C (p.Glu1306Asp) c.3864A>C (p.Glu1288Asp) c.3510A>C (p.Glu1170Asp) | gnomAD v4 |
| 7 | g.92022282A>G | CA456450676 | AKAP9 | c.3882A>G (p.Glu1294=) c.*3611A>G (n.*3611A>G) n.4104A>G c.3828A>G (p.Glu1276=) c.*3667A>G (n.*3667A>G) c.3624A>G (p.Glu1208=) c.3915A>G (p.Glu1305=) n.4102A>G c.3906A>G (p.Glu1302=) c.3918A>G (p.Glu1306=) c.3864A>G (p.Glu1288=) c.3510A>G (p.Glu1170=) | COSMIC COSMIC |
| 7 | g.92022282A>T | CA368127468 | AKAP9 | c.3882A>T (p.Glu1294Asp) c.*3611A>T (n.*3611A>T) n.4104A>T c.3828A>T (p.Glu1276Asp) c.*3667A>T (n.*3667A>T) c.3624A>T (p.Glu1208Asp) c.3915A>T (p.Glu1305Asp) n.4102A>T c.3906A>T (p.Glu1302Asp) c.3918A>T (p.Glu1306Asp) c.3864A>T (p.Glu1288Asp) c.3510A>T (p.Glu1170Asp) | |
| 7 | g.92022283G>A | CA368127469 | AKAP9 | c.3883G>A (p.Glu1295Lys) c.*3612G>A (n.*3612G>A) n.4105G>A c.3829G>A (p.Glu1277Lys) c.*3668G>A (n.*3668G>A) c.3625G>A (p.Glu1209Lys) c.3916G>A (p.Glu1306Lys) n.4103G>A c.3907G>A (p.Glu1303Lys) c.3919G>A (p.Glu1307Lys) c.3865G>A (p.Glu1289Lys) c.3511G>A (p.Glu1171Lys) | |
| 7 | g.92022283G>C | CA368127471 | AKAP9 | c.3883G>C (p.Glu1295Gln) c.*3612G>C (n.*3612G>C) n.4105G>C c.3829G>C (p.Glu1277Gln) c.*3668G>C (n.*3668G>C) c.3625G>C (p.Glu1209Gln) c.3916G>C (p.Glu1306Gln) n.4103G>C c.3907G>C (p.Glu1303Gln) c.3919G>C (p.Glu1307Gln) c.3865G>C (p.Glu1289Gln) c.3511G>C (p.Glu1171Gln) | |
| 7 | g.92022283G>T | CA368127470 | AKAP9 | c.3883G>T (p.Glu1295Ter) c.*3612G>T (n.*3612G>T) n.4105G>T c.3829G>T (p.Glu1277Ter) c.*3668G>T (n.*3668G>T) c.3625G>T (p.Glu1209Ter) c.3916G>T (p.Glu1306Ter) n.4103G>T c.3907G>T (p.Glu1303Ter) c.3919G>T (p.Glu1307Ter) c.3865G>T (p.Glu1289Ter) c.3511G>T (p.Glu1171Ter) | |
| 7 | g.92022284A>C | CA368127472 | AKAP9 | c.3884A>C (p.Glu1295Ala) c.*3613A>C (n.*3613A>C) n.4106A>C c.3830A>C (p.Glu1277Ala) c.*3669A>C (n.*3669A>C) c.3626A>C (p.Glu1209Ala) c.3917A>C (p.Glu1306Ala) n.4104A>C c.3908A>C (p.Glu1303Ala) c.3920A>C (p.Glu1307Ala) c.3866A>C (p.Glu1289Ala) c.3512A>C (p.Glu1171Ala) | |
| 7 | g.92022284A>G | CA368127474 | AKAP9 | c.3884A>G (p.Glu1295Gly) c.*3613A>G (n.*3613A>G) n.4106A>G c.3830A>G (p.Glu1277Gly) c.*3669A>G (n.*3669A>G) c.3626A>G (p.Glu1209Gly) c.3917A>G (p.Glu1306Gly) n.4104A>G c.3908A>G (p.Glu1303Gly) c.3920A>G (p.Glu1307Gly) c.3866A>G (p.Glu1289Gly) c.3512A>G (p.Glu1171Gly) | |
| 7 | g.92022284A>T | CA368127473 | AKAP9 | c.3884A>T (p.Glu1295Val) c.*3613A>T (n.*3613A>T) n.4106A>T c.3830A>T (p.Glu1277Val) c.*3669A>T (n.*3669A>T) c.3626A>T (p.Glu1209Val) c.3917A>T (p.Glu1306Val) n.4104A>T c.3908A>T (p.Glu1303Val) c.3920A>T (p.Glu1307Val) c.3866A>T (p.Glu1289Val) c.3512A>T (p.Glu1171Val) | |
| 7 | g.92022285A>C | CA368127475 | AKAP9 | c.3885A>C (p.Glu1295Asp) c.*3614A>C (n.*3614A>C) n.4107A>C c.3831A>C (p.Glu1277Asp) c.*3670A>C (n.*3670A>C) c.3627A>C (p.Glu1209Asp) c.3918A>C (p.Glu1306Asp) n.4105A>C c.3909A>C (p.Glu1303Asp) c.3921A>C (p.Glu1307Asp) c.3867A>C (p.Glu1289Asp) c.3513A>C (p.Glu1171Asp) | |
| 7 | g.92022285A>G | CA456450680 | AKAP9 | c.3885A>G (p.Glu1295=) c.*3614A>G (n.*3614A>G) n.4107A>G c.3831A>G (p.Glu1277=) c.*3670A>G (n.*3670A>G) c.3627A>G (p.Glu1209=) c.3918A>G (p.Glu1306=) n.4105A>G c.3909A>G (p.Glu1303=) c.3921A>G (p.Glu1307=) c.3867A>G (p.Glu1289=) c.3513A>G (p.Glu1171=) | |
| 7 | g.92022285A>T | CA368127476 | AKAP9 | c.3885A>T (p.Glu1295Asp) c.*3614A>T (n.*3614A>T) n.4107A>T c.3831A>T (p.Glu1277Asp) c.*3670A>T (n.*3670A>T) c.3627A>T (p.Glu1209Asp) c.3918A>T (p.Glu1306Asp) n.4105A>T c.3909A>T (p.Glu1303Asp) c.3921A>T (p.Glu1307Asp) c.3867A>T (p.Glu1289Asp) c.3513A>T (p.Glu1171Asp) | |
| 7 | g.92022286A= | CA1725744486 | AKAP9 | c.3886A= (p.Asn1296=) c.*3615A= (n.*3615A=) n.4108A= c.3832A= (p.Asn1278=) c.*3671A= (n.*3671A=) c.3628A= (p.Asn1210=) c.3919A= (p.Asn1307=) n.4106A= c.3910A= (p.Asn1304=) c.3922A= (p.Asn1308=) c.3868A= (p.Asn1290=) c.3514A= (p.Asn1172=) | |
| 7 | g.92022286A>C | CA368127477 | AKAP9 | c.3886A>C (p.Asn1296His) c.*3615A>C (n.*3615A>C) n.4108A>C c.3832A>C (p.Asn1278His) c.*3671A>C (n.*3671A>C) c.3628A>C (p.Asn1210His) c.3919A>C (p.Asn1307His) n.4106A>C c.3910A>C (p.Asn1304His) c.3922A>C (p.Asn1308His) c.3868A>C (p.Asn1290His) c.3514A>C (p.Asn1172His) | |
| 7 | g.92022286A>G | CA4336421 | AKAP9 | c.3886A>G (p.Asn1296Asp) c.*3615A>G (n.*3615A>G) n.4108A>G c.3832A>G (p.Asn1278Asp) c.*3671A>G (n.*3671A>G) c.3628A>G (p.Asn1210Asp) c.3919A>G (p.Asn1307Asp) n.4106A>G c.3910A>G (p.Asn1304Asp) c.3922A>G (p.Asn1308Asp) c.3868A>G (p.Asn1290Asp) c.3514A>G (p.Asn1172Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92022286A>T | CA368127478 | AKAP9 | c.3886A>T (p.Asn1296Tyr) c.*3615A>T (n.*3615A>T) n.4108A>T c.3832A>T (p.Asn1278Tyr) c.*3671A>T (n.*3671A>T) c.3628A>T (p.Asn1210Tyr) c.3919A>T (p.Asn1307Tyr) n.4106A>T c.3910A>T (p.Asn1304Tyr) c.3922A>T (p.Asn1308Tyr) c.3868A>T (p.Asn1290Tyr) c.3514A>T (p.Asn1172Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.92022287A>C | CA368127479 | AKAP9 | c.3887A>C (p.Asn1296Thr) c.*3616A>C (n.*3616A>C) n.4109A>C c.3833A>C (p.Asn1278Thr) c.*3672A>C (n.*3672A>C) c.3629A>C (p.Asn1210Thr) c.3920A>C (p.Asn1307Thr) n.4107A>C c.3911A>C (p.Asn1304Thr) c.3923A>C (p.Asn1308Thr) c.3869A>C (p.Asn1290Thr) c.3515A>C (p.Asn1172Thr) | |
| 7 | g.92022287A>G | CA368127480 | AKAP9 | c.3887A>G (p.Asn1296Ser) c.*3616A>G (n.*3616A>G) n.4109A>G c.3833A>G (p.Asn1278Ser) c.*3672A>G (n.*3672A>G) c.3629A>G (p.Asn1210Ser) c.3920A>G (p.Asn1307Ser) n.4107A>G c.3911A>G (p.Asn1304Ser) c.3923A>G (p.Asn1308Ser) c.3869A>G (p.Asn1290Ser) c.3515A>G (p.Asn1172Ser) | |
| 7 | g.92022287A>T | CA368127481 | AKAP9 | c.3887A>T (p.Asn1296Ile) c.*3616A>T (n.*3616A>T) n.4109A>T c.3833A>T (p.Asn1278Ile) c.*3672A>T (n.*3672A>T) c.3629A>T (p.Asn1210Ile) c.3920A>T (p.Asn1307Ile) n.4107A>T c.3911A>T (p.Asn1304Ile) c.3923A>T (p.Asn1308Ile) c.3869A>T (p.Asn1290Ile) c.3515A>T (p.Asn1172Ile) | |
| 7 | g.92022288C>A | CA368127482 | AKAP9 | c.3888C>A (p.Asn1296Lys) c.*3617C>A (n.*3617C>A) n.4110C>A c.3834C>A (p.Asn1278Lys) c.*3673C>A (n.*3673C>A) c.3630C>A (p.Asn1210Lys) c.3921C>A (p.Asn1307Lys) n.4108C>A c.3912C>A (p.Asn1304Lys) c.3924C>A (p.Asn1308Lys) c.3870C>A (p.Asn1290Lys) c.3516C>A (p.Asn1172Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.92022288C= | CA1725744487 | AKAP9 | c.3888C= (p.Asn1296=) c.*3617C= (n.*3617C=) n.4110C= c.3834C= (p.Asn1278=) c.*3673C= (n.*3673C=) c.3630C= (p.Asn1210=) c.3921C= (p.Asn1307=) n.4108C= c.3912C= (p.Asn1304=) c.3924C= (p.Asn1308=) c.3870C= (p.Asn1290=) c.3516C= (p.Asn1172=) | |
| 7 | g.92022288C>G | CA368127483 | AKAP9 | c.3888C>G (p.Asn1296Lys) c.*3617C>G (n.*3617C>G) n.4110C>G c.3834C>G (p.Asn1278Lys) c.*3673C>G (n.*3673C>G) c.3630C>G (p.Asn1210Lys) c.3921C>G (p.Asn1307Lys) n.4108C>G c.3912C>G (p.Asn1304Lys) c.3924C>G (p.Asn1308Lys) c.3870C>G (p.Asn1290Lys) c.3516C>G (p.Asn1172Lys) | |
| 7 | g.92022288C>T | CA456450682 | AKAP9 | c.3888C>T (p.Asn1296=) c.*3617C>T (n.*3617C>T) n.4110C>T c.3834C>T (p.Asn1278=) c.*3673C>T (n.*3673C>T) c.3630C>T (p.Asn1210=) c.3921C>T (p.Asn1307=) n.4108C>T c.3912C>T (p.Asn1304=) c.3924C>T (p.Asn1308=) c.3870C>T (p.Asn1290=) c.3516C>T (p.Asn1172=) | |
| 7 | g.92022289C>A | CA368127485 | AKAP9 | c.3889C>A (p.Leu1297Ile) c.*3618C>A (n.*3618C>A) n.4111C>A c.3835C>A (p.Leu1279Ile) c.*3674C>A (n.*3674C>A) c.3631C>A (p.Leu1211Ile) c.3922C>A (p.Leu1308Ile) n.4109C>A c.3913C>A (p.Leu1305Ile) c.3925C>A (p.Leu1309Ile) c.3871C>A (p.Leu1291Ile) c.3517C>A (p.Leu1173Ile) |