Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3227968_3228090del | CA1014849387 | SLC4A11 | c.2558+176_2559-105del (n.2558+176_2559-105del) c.2489+176_2490-105del (n.2489+176_2490-105del) c.2357+176_2358-105del (n.2357+176_2358-105del) c.2444+176_2445-105del (n.2444+176_2445-105del) c.2606+176_2607-105del (n.2606+176_2607-105del) c.2687+176_2688-105del (n.2687+176_2688-105del) c.*706+176_*707-105del (n.*706+176_*707-105del) c.2927+176_2928-105del (n.2927+176_2928-105del) c.2501+176_2502-105del (n.2501+176_2502-105del) c.2525+176_2526-105del (n.2525+176_2526-105del) n.2656+176_2657-105del c.2921+176_2922-105del (n.2921+176_2922-105del) n.3101+176_3102-105del n.3081+176_3082-105del c.2573+176_2574-105del (n.2573+176_2574-105del) n.3066+176_3067-105del | gnomAD v3 gnomAD v4 |
20 | g.3227987_3228096delinsACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCG | CA2346474720 | SLC4A11 | c.2558+163_2559-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2558+163_2559-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2489+163_2490-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2489+163_2490-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2357+163_2358-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2357+163_2358-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2444+163_2445-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2444+163_2445-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2606+163_2607-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2606+163_2607-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2687+163_2688-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2687+163_2688-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.*706+163_*707-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.*706+163_*707-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2927+163_2928-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2927+163_2928-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2501+163_2502-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2501+163_2502-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) c.2525+163_2526-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2525+163_2526-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) n.2656+163_2657-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT c.2921+163_2922-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2921+163_2922-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) n.3101+163_3102-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT n.3081+163_3082-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT c.2573+163_2574-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT (n.2573+163_2574-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT) n.3066+163_3067-131delinsCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGAGTGGAGAGTGGGT | |
20 | g.3228000_3228108del | CA1014849402 | SLC4A11 | c.2558+163_2559-132del (n.2558+163_2559-132del) c.2489+163_2490-132del (n.2489+163_2490-132del) c.2357+163_2358-132del (n.2357+163_2358-132del) c.2444+163_2445-132del (n.2444+163_2445-132del) c.2606+163_2607-132del (n.2606+163_2607-132del) c.2687+163_2688-132del (n.2687+163_2688-132del) c.*706+163_*707-132del (n.*706+163_*707-132del) c.2927+163_2928-132del (n.2927+163_2928-132del) c.2501+163_2502-132del (n.2501+163_2502-132del) c.2525+163_2526-132del (n.2525+163_2526-132del) n.2656+163_2657-132del c.2921+163_2922-132del (n.2921+163_2922-132del) n.3101+163_3102-132del n.3081+163_3082-132del c.2573+163_2574-132del (n.2573+163_2574-132del) n.3066+163_3067-132del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228000_3228109delinsTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACC | CA2346474736 | SLC4A11 | c.2558+150_2559-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2558+150_2559-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2489+150_2490-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2489+150_2490-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2357+150_2358-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2357+150_2358-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2444+150_2445-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2444+150_2445-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2606+150_2607-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2606+150_2607-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2687+150_2688-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2687+150_2688-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.*706+150_*707-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.*706+150_*707-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2927+150_2928-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2927+150_2928-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2501+150_2502-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2501+150_2502-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) c.2525+150_2526-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2525+150_2526-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) n.2656+150_2657-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA c.2921+150_2922-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2921+150_2922-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) n.3101+150_3102-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA n.3081+150_3082-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA c.2573+150_2574-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA (n.2573+150_2574-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA) n.3066+150_3067-144delinsGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGGGCTCCAGTCTAGGA | |
20 | g.3228006_3228114del | CA1014849414 | SLC4A11 | c.2558+150_2559-145del (n.2558+150_2559-145del) c.2489+150_2490-145del (n.2489+150_2490-145del) c.2357+150_2358-145del (n.2357+150_2358-145del) c.2444+150_2445-145del (n.2444+150_2445-145del) c.2606+150_2607-145del (n.2606+150_2607-145del) c.2687+150_2688-145del (n.2687+150_2688-145del) c.*706+150_*707-145del (n.*706+150_*707-145del) c.2927+150_2928-145del (n.2927+150_2928-145del) c.2501+150_2502-145del (n.2501+150_2502-145del) c.2525+150_2526-145del (n.2525+150_2526-145del) n.2656+150_2657-145del c.2921+150_2922-145del (n.2921+150_2922-145del) n.3101+150_3102-145del n.3081+150_3082-145del c.2573+150_2574-145del (n.2573+150_2574-145del) n.3066+150_3067-145del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228014_3228067del | CA1014849419 | SLC4A11 | c.2558+194_2559-156del (n.2558+194_2559-156del) c.2489+194_2490-156del (n.2489+194_2490-156del) c.2357+194_2358-156del (n.2357+194_2358-156del) c.2444+194_2445-156del (n.2444+194_2445-156del) c.2606+194_2607-156del (n.2606+194_2607-156del) c.2687+194_2688-156del (n.2687+194_2688-156del) c.*706+194_*707-156del (n.*706+194_*707-156del) c.2927+194_2928-156del (n.2927+194_2928-156del) c.2501+194_2502-156del (n.2501+194_2502-156del) c.2525+194_2526-156del (n.2525+194_2526-156del) n.2656+194_2657-156del c.2921+194_2922-156del (n.2921+194_2922-156del) n.3101+194_3102-156del n.3081+194_3082-156del c.2573+194_2574-156del (n.2573+194_2574-156del) n.3066+194_3067-156del | gnomAD v3 gnomAD v4 |
20 | g.3228027_3228241del | CA1014849418 | SLC4A11 | c.2558+33_2559-156del (n.2558+33_2559-156del) c.2489+33_2490-156del (n.2489+33_2490-156del) c.2357+33_2358-156del (n.2357+33_2358-156del) c.2444+33_2445-156del (n.2444+33_2445-156del) c.2606+33_2607-156del (n.2606+33_2607-156del) c.2687+33_2688-156del (n.2687+33_2688-156del) c.*706+33_*707-156del (n.*706+33_*707-156del) c.2927+33_2928-156del (n.2927+33_2928-156del) c.2501+33_2502-156del (n.2501+33_2502-156del) c.2525+33_2526-156del (n.2525+33_2526-156del) n.2656+33_2657-156del c.2921+33_2922-156del (n.2921+33_2922-156del) n.3101+33_3102-156del n.3081+33_3082-156del c.2573+33_2574-156del (n.2573+33_2574-156del) n.3066+33_3067-156del | gnomAD v3 gnomAD v4 |
20 | g.3228014_3228068delinsCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT | CA2346474744 | SLC4A11 | c.2558+191_2559-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2558+191_2559-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2489+191_2490-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2489+191_2490-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2357+191_2358-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2357+191_2358-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2444+191_2445-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2444+191_2445-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2606+191_2607-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2606+191_2607-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2687+191_2688-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2687+191_2688-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.*706+191_*707-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.*706+191_*707-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2927+191_2928-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2927+191_2928-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2501+191_2502-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2501+191_2502-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) c.2525+191_2526-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2525+191_2526-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) n.2656+191_2657-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG c.2921+191_2922-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2921+191_2922-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) n.3101+191_3102-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG n.3081+191_3082-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG c.2573+191_2574-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG (n.2573+191_2574-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG) n.3066+191_3067-158delinsAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGTGGGTGGTGGGCAGGAGGG | |
20 | g.3228025_3228078del | CA634173526 | SLC4A11 | c.2558+191_2559-159del (n.2558+191_2559-159del) c.2489+191_2490-159del (n.2489+191_2490-159del) c.2357+191_2358-159del (n.2357+191_2358-159del) c.2444+191_2445-159del (n.2444+191_2445-159del) c.2606+191_2607-159del (n.2606+191_2607-159del) c.2687+191_2688-159del (n.2687+191_2688-159del) c.*706+191_*707-159del (n.*706+191_*707-159del) c.2927+191_2928-159del (n.2927+191_2928-159del) c.2501+191_2502-159del (n.2501+191_2502-159del) c.2525+191_2526-159del (n.2525+191_2526-159del) n.2656+191_2657-159del c.2921+191_2922-159del (n.2921+191_2922-159del) n.3101+191_3102-159del n.3081+191_3082-159del c.2573+191_2574-159del (n.2573+191_2574-159del) n.3066+191_3067-159del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228029_3228082dup | CA2815075132 | SLC4A11 | c.2558+180_2559-170dup (n.2558+180_2559-170dup) c.2489+180_2490-170dup (n.2489+180_2490-170dup) c.2357+180_2358-170dup (n.2357+180_2358-170dup) c.2444+180_2445-170dup (n.2444+180_2445-170dup) c.2606+180_2607-170dup (n.2606+180_2607-170dup) c.2687+180_2688-170dup (n.2687+180_2688-170dup) c.*706+180_*707-170dup (n.*706+180_*707-170dup) c.2927+180_2928-170dup (n.2927+180_2928-170dup) c.2501+180_2502-170dup (n.2501+180_2502-170dup) c.2525+180_2526-170dup (n.2525+180_2526-170dup) n.2656+180_2657-170dup c.2921+180_2922-170dup (n.2921+180_2922-170dup) n.3101+180_3102-170dup n.3081+180_3082-170dup c.2573+180_2574-170dup (n.2573+180_2574-170dup) n.3066+180_3067-170dup | |
20 | g.3228029_3228082del | CA1014849427 | SLC4A11 | c.2558+180_2559-170del (n.2558+180_2559-170del) c.2489+180_2490-170del (n.2489+180_2490-170del) c.2357+180_2358-170del (n.2357+180_2358-170del) c.2444+180_2445-170del (n.2444+180_2445-170del) c.2606+180_2607-170del (n.2606+180_2607-170del) c.2687+180_2688-170del (n.2687+180_2688-170del) c.*706+180_*707-170del (n.*706+180_*707-170del) c.2927+180_2928-170del (n.2927+180_2928-170del) c.2501+180_2502-170del (n.2501+180_2502-170del) c.2525+180_2526-170del (n.2525+180_2526-170del) n.2656+180_2657-170del c.2921+180_2922-170del (n.2921+180_2922-170del) n.3101+180_3102-170del n.3081+180_3082-170del c.2573+180_2574-170del (n.2573+180_2574-170del) n.3066+180_3067-170del | gnomAD v3 gnomAD v4 |
20 | g.3228038_3228145del | CA1014849429 | SLC4A11 | c.2558+125_2559-171del (n.2558+125_2559-171del) c.2489+125_2490-171del (n.2489+125_2490-171del) c.2357+125_2358-171del (n.2357+125_2358-171del) c.2444+125_2445-171del (n.2444+125_2445-171del) c.2606+125_2607-171del (n.2606+125_2607-171del) c.2687+125_2688-171del (n.2687+125_2688-171del) c.*706+125_*707-171del (n.*706+125_*707-171del) c.2927+125_2928-171del (n.2927+125_2928-171del) c.2501+125_2502-171del (n.2501+125_2502-171del) c.2525+125_2526-171del (n.2525+125_2526-171del) n.2656+125_2657-171del c.2921+125_2922-171del (n.2921+125_2922-171del) n.3101+125_3102-171del n.3081+125_3082-171del c.2573+125_2574-171del (n.2573+125_2574-171del) n.3066+125_3067-171del | gnomAD v3 gnomAD v4 |
20 | g.3228032_3228086delinsACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCT | CA2346474753 | SLC4A11 | c.2558+173_2559-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2558+173_2559-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2489+173_2490-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2489+173_2490-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2357+173_2358-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2357+173_2358-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2444+173_2445-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2444+173_2445-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2606+173_2607-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2606+173_2607-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2687+173_2688-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2687+173_2688-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.*706+173_*707-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.*706+173_*707-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2927+173_2928-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2927+173_2928-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2501+173_2502-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2501+173_2502-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) c.2525+173_2526-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2525+173_2526-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) n.2656+173_2657-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT c.2921+173_2922-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2921+173_2922-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) n.3101+173_3102-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT n.3081+173_3082-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT c.2573+173_2574-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT (n.2573+173_2574-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT) n.3066+173_3067-176delinsAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGGTGGAGAGTGGGCGGGCTGGGGT | |
20 | g.3228056_3228109dup | CA1014849435 | SLC4A11 | c.2558+173_2559-177dup (n.2558+173_2559-177dup) c.2489+173_2490-177dup (n.2489+173_2490-177dup) c.2357+173_2358-177dup (n.2357+173_2358-177dup) c.2444+173_2445-177dup (n.2444+173_2445-177dup) c.2606+173_2607-177dup (n.2606+173_2607-177dup) c.2687+173_2688-177dup (n.2687+173_2688-177dup) c.*706+173_*707-177dup (n.*706+173_*707-177dup) c.2927+173_2928-177dup (n.2927+173_2928-177dup) c.2501+173_2502-177dup (n.2501+173_2502-177dup) c.2525+173_2526-177dup (n.2525+173_2526-177dup) n.2656+173_2657-177dup c.2921+173_2922-177dup (n.2921+173_2922-177dup) n.3101+173_3102-177dup n.3081+173_3082-177dup c.2573+173_2574-177dup (n.2573+173_2574-177dup) n.3066+173_3067-177dup | gnomAD v3 gnomAD v4 |
20 | g.3228056_3228109del | CA634173530 | SLC4A11 | c.2558+173_2559-177del (n.2558+173_2559-177del) c.2489+173_2490-177del (n.2489+173_2490-177del) c.2357+173_2358-177del (n.2357+173_2358-177del) c.2444+173_2445-177del (n.2444+173_2445-177del) c.2606+173_2607-177del (n.2606+173_2607-177del) c.2687+173_2688-177del (n.2687+173_2688-177del) c.*706+173_*707-177del (n.*706+173_*707-177del) c.2927+173_2928-177del (n.2927+173_2928-177del) c.2501+173_2502-177del (n.2501+173_2502-177del) c.2525+173_2526-177del (n.2525+173_2526-177del) n.2656+173_2657-177del c.2921+173_2922-177del (n.2921+173_2922-177del) n.3101+173_3102-177del n.3081+173_3082-177del c.2573+173_2574-177del (n.2573+173_2574-177del) n.3066+173_3067-177del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228037_3228089del | CA1014849438 | SLC4A11 | c.2558+173_2559-178del (n.2558+173_2559-178del) c.2489+173_2490-178del (n.2489+173_2490-178del) c.2357+173_2358-178del (n.2357+173_2358-178del) c.2444+173_2445-178del (n.2444+173_2445-178del) c.2606+173_2607-178del (n.2606+173_2607-178del) c.2687+173_2688-178del (n.2687+173_2688-178del) c.*706+173_*707-178del (n.*706+173_*707-178del) c.2927+173_2928-178del (n.2927+173_2928-178del) c.2501+173_2502-178del (n.2501+173_2502-178del) c.2525+173_2526-178del (n.2525+173_2526-178del) n.2656+173_2657-178del c.2921+173_2922-178del (n.2921+173_2922-178del) n.3101+173_3102-178del n.3081+173_3082-178del c.2573+173_2574-178del (n.2573+173_2574-178del) n.3066+173_3067-178del | gnomAD v3 gnomAD v4 |
20 | g.3228037_3228086del | CA1014849439 | SLC4A11 | c.2558+173_2559-181del (n.2558+173_2559-181del) c.2489+173_2490-181del (n.2489+173_2490-181del) c.2357+173_2358-181del (n.2357+173_2358-181del) c.2444+173_2445-181del (n.2444+173_2445-181del) c.2606+173_2607-181del (n.2606+173_2607-181del) c.2687+173_2688-181del (n.2687+173_2688-181del) c.*706+173_*707-181del (n.*706+173_*707-181del) c.2927+173_2928-181del (n.2927+173_2928-181del) c.2501+173_2502-181del (n.2501+173_2502-181del) c.2525+173_2526-181del (n.2525+173_2526-181del) n.2656+173_2657-181del c.2921+173_2922-181del (n.2921+173_2922-181del) n.3101+173_3102-181del n.3081+173_3082-181del c.2573+173_2574-181del (n.2573+173_2574-181del) n.3066+173_3067-181del | gnomAD v3 gnomAD v4 |
20 | g.3228040_3228091del | CA2815075135 | SLC4A11 | c.2558+168_2559-184del (n.2558+168_2559-184del) c.2489+168_2490-184del (n.2489+168_2490-184del) c.2357+168_2358-184del (n.2357+168_2358-184del) c.2444+168_2445-184del (n.2444+168_2445-184del) c.2606+168_2607-184del (n.2606+168_2607-184del) c.2687+168_2688-184del (n.2687+168_2688-184del) c.*706+168_*707-184del (n.*706+168_*707-184del) c.2927+168_2928-184del (n.2927+168_2928-184del) c.2501+168_2502-184del (n.2501+168_2502-184del) c.2525+168_2526-184del (n.2525+168_2526-184del) n.2656+168_2657-184del c.2921+168_2922-184del (n.2921+168_2922-184del) n.3101+168_3102-184del n.3081+168_3082-184del c.2573+168_2574-184del (n.2573+168_2574-184del) n.3066+168_3067-184del | |
20 | g.3228048_3228100del | CA1014849443 | SLC4A11 | c.2558+159_2559-192del (n.2558+159_2559-192del) c.2489+159_2490-192del (n.2489+159_2490-192del) c.2357+159_2358-192del (n.2357+159_2358-192del) c.2444+159_2445-192del (n.2444+159_2445-192del) c.2606+159_2607-192del (n.2606+159_2607-192del) c.2687+159_2688-192del (n.2687+159_2688-192del) c.*706+159_*707-192del (n.*706+159_*707-192del) c.2927+159_2928-192del (n.2927+159_2928-192del) c.2501+159_2502-192del (n.2501+159_2502-192del) c.2525+159_2526-192del (n.2525+159_2526-192del) n.2656+159_2657-192del c.2921+159_2922-192del (n.2921+159_2922-192del) n.3101+159_3102-192del n.3081+159_3082-192del c.2573+159_2574-192del (n.2573+159_2574-192del) n.3066+159_3067-192del | gnomAD v3 gnomAD v4 |
20 | g.3228055C>A | CA2346474766 | SLC4A11 | c.2559-199G>T (n.2559-199G>T) c.2490-199G>T (n.2490-199G>T) c.2358-199G>T (n.2358-199G>T) c.2445-199G>T (n.2445-199G>T) c.2607-199G>T (n.2607-199G>T) c.2688-199G>T (n.2688-199G>T) c.*707-199G>T (n.*707-199G>T) c.2928-199G>T (n.2928-199G>T) c.2502-199G>T (n.2502-199G>T) c.2526-199G>T (n.2526-199G>T) n.2657-199G>T c.2922-199G>T (n.2922-199G>T) n.3102-199G>T n.3082-199G>T c.2574-199G>T (n.2574-199G>T) n.3067-199G>T | dbSNP |
20 | g.3228055C= | CA2346474765 | SLC4A11 | c.2559-199G= (n.2559-199G=) c.2490-199G= (n.2490-199G=) c.2358-199G= (n.2358-199G=) c.2445-199G= (n.2445-199G=) c.2607-199G= (n.2607-199G=) c.2688-199G= (n.2688-199G=) c.*707-199G= (n.*707-199G=) c.2928-199G= (n.2928-199G=) c.2502-199G= (n.2502-199G=) c.2526-199G= (n.2526-199G=) n.2657-199G= c.2922-199G= (n.2922-199G=) n.3102-199G= n.3082-199G= c.2574-199G= (n.2574-199G=) n.3067-199G= | |
20 | g.3228055C>T | CA743608785 | SLC4A11 | c.2559-199G>A (n.2559-199G>A) c.2490-199G>A (n.2490-199G>A) c.2358-199G>A (n.2358-199G>A) c.2445-199G>A (n.2445-199G>A) c.2607-199G>A (n.2607-199G>A) c.2688-199G>A (n.2688-199G>A) c.*707-199G>A (n.*707-199G>A) c.2928-199G>A (n.2928-199G>A) c.2502-199G>A (n.2502-199G>A) c.2526-199G>A (n.2526-199G>A) n.2657-199G>A c.2922-199G>A (n.2922-199G>A) n.3102-199G>A n.3082-199G>A c.2574-199G>A (n.2574-199G>A) n.3067-199G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228056T>A | CA2815075136 | SLC4A11 | c.2559-200A>T (n.2559-200A>T) c.2490-200A>T (n.2490-200A>T) c.2358-200A>T (n.2358-200A>T) c.2445-200A>T (n.2445-200A>T) c.2607-200A>T (n.2607-200A>T) c.2688-200A>T (n.2688-200A>T) c.*707-200A>T (n.*707-200A>T) c.2928-200A>T (n.2928-200A>T) c.2502-200A>T (n.2502-200A>T) c.2526-200A>T (n.2526-200A>T) n.2657-200A>T c.2922-200A>T (n.2922-200A>T) n.3102-200A>T n.3082-200A>T c.2574-200A>T (n.2574-200A>T) n.3067-200A>T | |
20 | g.3228056T>C | CA310984510 | SLC4A11 | c.2559-200A>G (n.2559-200A>G) c.2490-200A>G (n.2490-200A>G) c.2358-200A>G (n.2358-200A>G) c.2445-200A>G (n.2445-200A>G) c.2607-200A>G (n.2607-200A>G) c.2688-200A>G (n.2688-200A>G) c.*707-200A>G (n.*707-200A>G) c.2928-200A>G (n.2928-200A>G) c.2502-200A>G (n.2502-200A>G) c.2526-200A>G (n.2526-200A>G) n.2657-200A>G c.2922-200A>G (n.2922-200A>G) n.3102-200A>G n.3082-200A>G c.2574-200A>G (n.2574-200A>G) n.3067-200A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228056T= | CA2346474767 | SLC4A11 | c.2559-200A= (n.2559-200A=) c.2490-200A= (n.2490-200A=) c.2358-200A= (n.2358-200A=) c.2445-200A= (n.2445-200A=) c.2607-200A= (n.2607-200A=) c.2688-200A= (n.2688-200A=) c.*707-200A= (n.*707-200A=) c.2928-200A= (n.2928-200A=) c.2502-200A= (n.2502-200A=) c.2526-200A= (n.2526-200A=) n.2657-200A= c.2922-200A= (n.2922-200A=) n.3102-200A= n.3082-200A= c.2574-200A= (n.2574-200A=) n.3067-200A= | |
20 | g.3228063_3228116del | CA634173535 | SLC4A11 | c.2558+149_2559-201del (n.2558+149_2559-201del) c.2489+149_2490-201del (n.2489+149_2490-201del) c.2357+149_2358-201del (n.2357+149_2358-201del) c.2444+149_2445-201del (n.2444+149_2445-201del) c.2606+149_2607-201del (n.2606+149_2607-201del) c.2687+149_2688-201del (n.2687+149_2688-201del) c.*706+149_*707-201del (n.*706+149_*707-201del) c.2927+149_2928-201del (n.2927+149_2928-201del) c.2501+149_2502-201del (n.2501+149_2502-201del) c.2525+149_2526-201del (n.2525+149_2526-201del) n.2656+149_2657-201del c.2921+149_2922-201del (n.2921+149_2922-201del) n.3101+149_3102-201del n.3081+149_3082-201del c.2573+149_2574-201del (n.2573+149_2574-201del) n.3066+149_3067-201del | gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228058T>C | CA2346474769 | SLC4A11 | c.2559-202A>G (n.2559-202A>G) c.2490-202A>G (n.2490-202A>G) c.2358-202A>G (n.2358-202A>G) c.2445-202A>G (n.2445-202A>G) c.2607-202A>G (n.2607-202A>G) c.2688-202A>G (n.2688-202A>G) c.*707-202A>G (n.*707-202A>G) c.2928-202A>G (n.2928-202A>G) c.2502-202A>G (n.2502-202A>G) c.2526-202A>G (n.2526-202A>G) n.2657-202A>G c.2922-202A>G (n.2922-202A>G) n.3102-202A>G n.3082-202A>G c.2574-202A>G (n.2574-202A>G) n.3067-202A>G | dbSNP |
20 | g.3228058T>G | CA2815075137 | SLC4A11 | c.2559-202A>C (n.2559-202A>C) c.2490-202A>C (n.2490-202A>C) c.2358-202A>C (n.2358-202A>C) c.2445-202A>C (n.2445-202A>C) c.2607-202A>C (n.2607-202A>C) c.2688-202A>C (n.2688-202A>C) c.*707-202A>C (n.*707-202A>C) c.2928-202A>C (n.2928-202A>C) c.2502-202A>C (n.2502-202A>C) c.2526-202A>C (n.2526-202A>C) n.2657-202A>C c.2922-202A>C (n.2922-202A>C) n.3102-202A>C n.3082-202A>C c.2574-202A>C (n.2574-202A>C) n.3067-202A>C | |
20 | g.3228058T= | CA2346474768 | SLC4A11 | c.2559-202A= (n.2559-202A=) c.2490-202A= (n.2490-202A=) c.2358-202A= (n.2358-202A=) c.2445-202A= (n.2445-202A=) c.2607-202A= (n.2607-202A=) c.2688-202A= (n.2688-202A=) c.*707-202A= (n.*707-202A=) c.2928-202A= (n.2928-202A=) c.2502-202A= (n.2502-202A=) c.2526-202A= (n.2526-202A=) n.2657-202A= c.2922-202A= (n.2922-202A=) n.3102-202A= n.3082-202A= c.2574-202A= (n.2574-202A=) n.3067-202A= | |
20 | g.3228059A>C | CA2815075138 | SLC4A11 | c.2558+200T>G (n.2558+200T>G) c.2489+200T>G (n.2489+200T>G) c.2357+200T>G (n.2357+200T>G) c.2444+200T>G (n.2444+200T>G) c.2606+200T>G (n.2606+200T>G) c.2687+200T>G (n.2687+200T>G) c.*706+200T>G (n.*706+200T>G) c.2927+200T>G (n.2927+200T>G) c.2501+200T>G (n.2501+200T>G) c.2525+200T>G (n.2525+200T>G) n.2656+200T>G c.2921+200T>G (n.2921+200T>G) n.3101+200T>G n.3081+200T>G c.2573+200T>G (n.2573+200T>G) n.3066+200T>G | |
20 | g.3228061G>A | CA743608791 | SLC4A11 | c.2558+198C>T (n.2558+198C>T) c.2489+198C>T (n.2489+198C>T) c.2357+198C>T (n.2357+198C>T) c.2444+198C>T (n.2444+198C>T) c.2606+198C>T (n.2606+198C>T) c.2687+198C>T (n.2687+198C>T) c.*706+198C>T (n.*706+198C>T) c.2927+198C>T (n.2927+198C>T) c.2501+198C>T (n.2501+198C>T) c.2525+198C>T (n.2525+198C>T) n.2656+198C>T c.2921+198C>T (n.2921+198C>T) n.3101+198C>T n.3081+198C>T c.2573+198C>T (n.2573+198C>T) n.3066+198C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228061G= | CA2346474770 | SLC4A11 | c.2558+198C= (n.2558+198C=) c.2489+198C= (n.2489+198C=) c.2357+198C= (n.2357+198C=) c.2444+198C= (n.2444+198C=) c.2606+198C= (n.2606+198C=) c.2687+198C= (n.2687+198C=) c.*706+198C= (n.*706+198C=) c.2927+198C= (n.2927+198C=) c.2501+198C= (n.2501+198C=) c.2525+198C= (n.2525+198C=) n.2656+198C= c.2921+198C= (n.2921+198C=) n.3101+198C= n.3081+198C= c.2573+198C= (n.2573+198C=) n.3066+198C= | |
20 | g.3228062C= | CA2346474771 | SLC4A11 | c.2558+197G= (n.2558+197G=) c.2489+197G= (n.2489+197G=) c.2357+197G= (n.2357+197G=) c.2444+197G= (n.2444+197G=) c.2606+197G= (n.2606+197G=) c.2687+197G= (n.2687+197G=) c.*706+197G= (n.*706+197G=) c.2927+197G= (n.2927+197G=) c.2501+197G= (n.2501+197G=) c.2525+197G= (n.2525+197G=) n.2656+197G= c.2921+197G= (n.2921+197G=) n.3101+197G= n.3081+197G= c.2573+197G= (n.2573+197G=) n.3066+197G= | |
20 | g.3228062C>T | CA743608792 | SLC4A11 | c.2558+197G>A (n.2558+197G>A) c.2489+197G>A (n.2489+197G>A) c.2357+197G>A (n.2357+197G>A) c.2444+197G>A (n.2444+197G>A) c.2606+197G>A (n.2606+197G>A) c.2687+197G>A (n.2687+197G>A) c.*706+197G>A (n.*706+197G>A) c.2927+197G>A (n.2927+197G>A) c.2501+197G>A (n.2501+197G>A) c.2525+197G>A (n.2525+197G>A) n.2656+197G>A c.2921+197G>A (n.2921+197G>A) n.3101+197G>A n.3081+197G>A c.2573+197G>A (n.2573+197G>A) n.3066+197G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228063T>A | CA743608793 | SLC4A11 | c.2558+196A>T (n.2558+196A>T) c.2489+196A>T (n.2489+196A>T) c.2357+196A>T (n.2357+196A>T) c.2444+196A>T (n.2444+196A>T) c.2606+196A>T (n.2606+196A>T) c.2687+196A>T (n.2687+196A>T) c.*706+196A>T (n.*706+196A>T) c.2927+196A>T (n.2927+196A>T) c.2501+196A>T (n.2501+196A>T) c.2525+196A>T (n.2525+196A>T) n.2656+196A>T c.2921+196A>T (n.2921+196A>T) n.3101+196A>T n.3081+196A>T c.2573+196A>T (n.2573+196A>T) n.3066+196A>T | dbSNP |
20 | g.3228063T>G | CA743608794 | SLC4A11 | c.2558+196A>C (n.2558+196A>C) c.2489+196A>C (n.2489+196A>C) c.2357+196A>C (n.2357+196A>C) c.2444+196A>C (n.2444+196A>C) c.2606+196A>C (n.2606+196A>C) c.2687+196A>C (n.2687+196A>C) c.*706+196A>C (n.*706+196A>C) c.2927+196A>C (n.2927+196A>C) c.2501+196A>C (n.2501+196A>C) c.2525+196A>C (n.2525+196A>C) n.2656+196A>C c.2921+196A>C (n.2921+196A>C) n.3101+196A>C n.3081+196A>C c.2573+196A>C (n.2573+196A>C) n.3066+196A>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228063T= | CA2346474772 | SLC4A11 | c.2558+196A= (n.2558+196A=) c.2489+196A= (n.2489+196A=) c.2357+196A= (n.2357+196A=) c.2444+196A= (n.2444+196A=) c.2606+196A= (n.2606+196A=) c.2687+196A= (n.2687+196A=) c.*706+196A= (n.*706+196A=) c.2927+196A= (n.2927+196A=) c.2501+196A= (n.2501+196A=) c.2525+196A= (n.2525+196A=) n.2656+196A= c.2921+196A= (n.2921+196A=) n.3101+196A= n.3081+196A= c.2573+196A= (n.2573+196A=) n.3066+196A= | |
20 | g.3228064G>A | CA310984511 | SLC4A11 | c.2558+195C>T (n.2558+195C>T) c.2489+195C>T (n.2489+195C>T) c.2357+195C>T (n.2357+195C>T) c.2444+195C>T (n.2444+195C>T) c.2606+195C>T (n.2606+195C>T) c.2687+195C>T (n.2687+195C>T) c.*706+195C>T (n.*706+195C>T) c.2927+195C>T (n.2927+195C>T) c.2501+195C>T (n.2501+195C>T) c.2525+195C>T (n.2525+195C>T) n.2656+195C>T c.2921+195C>T (n.2921+195C>T) n.3101+195C>T n.3081+195C>T c.2573+195C>T (n.2573+195C>T) n.3066+195C>T | dbSNP |
20 | g.3228064G= | CA2346474773 | SLC4A11 | c.2558+195C= (n.2558+195C=) c.2489+195C= (n.2489+195C=) c.2357+195C= (n.2357+195C=) c.2444+195C= (n.2444+195C=) c.2606+195C= (n.2606+195C=) c.2687+195C= (n.2687+195C=) c.*706+195C= (n.*706+195C=) c.2927+195C= (n.2927+195C=) c.2501+195C= (n.2501+195C=) c.2525+195C= (n.2525+195C=) n.2656+195C= c.2921+195C= (n.2921+195C=) n.3101+195C= n.3081+195C= c.2573+195C= (n.2573+195C=) n.3066+195C= | |
20 | g.3228065G>A | CA2346474775 | SLC4A11 | c.2558+194C>T (n.2558+194C>T) c.2489+194C>T (n.2489+194C>T) c.2357+194C>T (n.2357+194C>T) c.2444+194C>T (n.2444+194C>T) c.2606+194C>T (n.2606+194C>T) c.2687+194C>T (n.2687+194C>T) c.*706+194C>T (n.*706+194C>T) c.2927+194C>T (n.2927+194C>T) c.2501+194C>T (n.2501+194C>T) c.2525+194C>T (n.2525+194C>T) n.2656+194C>T c.2921+194C>T (n.2921+194C>T) n.3101+194C>T n.3081+194C>T c.2573+194C>T (n.2573+194C>T) n.3066+194C>T | dbSNP |
20 | g.3228065G= | CA2346474774 | SLC4A11 | c.2558+194C= (n.2558+194C=) c.2489+194C= (n.2489+194C=) c.2357+194C= (n.2357+194C=) c.2444+194C= (n.2444+194C=) c.2606+194C= (n.2606+194C=) c.2687+194C= (n.2687+194C=) c.*706+194C= (n.*706+194C=) c.2927+194C= (n.2927+194C=) c.2501+194C= (n.2501+194C=) c.2525+194C= (n.2525+194C=) n.2656+194C= c.2921+194C= (n.2921+194C=) n.3101+194C= n.3081+194C= c.2573+194C= (n.2573+194C=) n.3066+194C= | |
20 | g.3228065G>T | CA743608796 | SLC4A11 | c.2558+194C>A (n.2558+194C>A) c.2489+194C>A (n.2489+194C>A) c.2357+194C>A (n.2357+194C>A) c.2444+194C>A (n.2444+194C>A) c.2606+194C>A (n.2606+194C>A) c.2687+194C>A (n.2687+194C>A) c.*706+194C>A (n.*706+194C>A) c.2927+194C>A (n.2927+194C>A) c.2501+194C>A (n.2501+194C>A) c.2525+194C>A (n.2525+194C>A) n.2656+194C>A c.2921+194C>A (n.2921+194C>A) n.3101+194C>A n.3081+194C>A c.2573+194C>A (n.2573+194C>A) n.3066+194C>A | dbSNP |
20 | g.3228065_3228066insA | CA509411878 | SLC4A11 | c.2558+193_2558+194insT (n.2558+193_2558+194insT) c.2489+193_2489+194insT (n.2489+193_2489+194insT) c.2357+193_2357+194insT (n.2357+193_2357+194insT) c.2444+193_2444+194insT (n.2444+193_2444+194insT) c.2606+193_2606+194insT (n.2606+193_2606+194insT) c.2687+193_2687+194insT (n.2687+193_2687+194insT) c.*706+193_*706+194insT (n.*706+193_*706+194insT) c.2927+193_2927+194insT (n.2927+193_2927+194insT) c.2501+193_2501+194insT (n.2501+193_2501+194insT) c.2525+193_2525+194insT (n.2525+193_2525+194insT) n.2656+193_2656+194insT c.2921+193_2921+194insT (n.2921+193_2921+194insT) n.3101+193_3101+194insT n.3081+193_3081+194insT c.2573+193_2573+194insT (n.2573+193_2573+194insT) n.3066+193_3066+194insT | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228066G>A | CA2346474777 | SLC4A11 | c.2558+193C>T (n.2558+193C>T) c.2489+193C>T (n.2489+193C>T) c.2357+193C>T (n.2357+193C>T) c.2444+193C>T (n.2444+193C>T) c.2606+193C>T (n.2606+193C>T) c.2687+193C>T (n.2687+193C>T) c.*706+193C>T (n.*706+193C>T) c.2927+193C>T (n.2927+193C>T) c.2501+193C>T (n.2501+193C>T) c.2525+193C>T (n.2525+193C>T) n.2656+193C>T c.2921+193C>T (n.2921+193C>T) n.3101+193C>T n.3081+193C>T c.2573+193C>T (n.2573+193C>T) n.3066+193C>T | dbSNP |
20 | g.3228066G= | CA2346474776 | SLC4A11 | c.2558+193C= (n.2558+193C=) c.2489+193C= (n.2489+193C=) c.2357+193C= (n.2357+193C=) c.2444+193C= (n.2444+193C=) c.2606+193C= (n.2606+193C=) c.2687+193C= (n.2687+193C=) c.*706+193C= (n.*706+193C=) c.2927+193C= (n.2927+193C=) c.2501+193C= (n.2501+193C=) c.2525+193C= (n.2525+193C=) n.2656+193C= c.2921+193C= (n.2921+193C=) n.3101+193C= n.3081+193C= c.2573+193C= (n.2573+193C=) n.3066+193C= | |
20 | g.3228066_3228069delinsGCTC | CA2346474778 | SLC4A11 | c.2558+190_2558+193delinsGAGC (n.2558+190_2558+193delinsGAGC) c.2489+190_2489+193delinsGAGC (n.2489+190_2489+193delinsGAGC) c.2357+190_2357+193delinsGAGC (n.2357+190_2357+193delinsGAGC) c.2444+190_2444+193delinsGAGC (n.2444+190_2444+193delinsGAGC) c.2606+190_2606+193delinsGAGC (n.2606+190_2606+193delinsGAGC) c.2687+190_2687+193delinsGAGC (n.2687+190_2687+193delinsGAGC) c.*706+190_*706+193delinsGAGC (n.*706+190_*706+193delinsGAGC) c.2927+190_2927+193delinsGAGC (n.2927+190_2927+193delinsGAGC) c.2501+190_2501+193delinsGAGC (n.2501+190_2501+193delinsGAGC) c.2525+190_2525+193delinsGAGC (n.2525+190_2525+193delinsGAGC) n.2656+190_2656+193delinsGAGC c.2921+190_2921+193delinsGAGC (n.2921+190_2921+193delinsGAGC) n.3101+190_3101+193delinsGAGC n.3081+190_3081+193delinsGAGC c.2573+190_2573+193delinsGAGC (n.2573+190_2573+193delinsGAGC) n.3066+190_3066+193delinsGAGC | |
20 | g.3228072_3228074del | CA1014849446 | SLC4A11 | c.2558+190_2558+192del (n.2558+190_2558+192del) c.2489+190_2489+192del (n.2489+190_2489+192del) c.2357+190_2357+192del (n.2357+190_2357+192del) c.2444+190_2444+192del (n.2444+190_2444+192del) c.2606+190_2606+192del (n.2606+190_2606+192del) c.2687+190_2687+192del (n.2687+190_2687+192del) c.*706+190_*706+192del (n.*706+190_*706+192del) c.2927+190_2927+192del (n.2927+190_2927+192del) c.2501+190_2501+192del (n.2501+190_2501+192del) c.2525+190_2525+192del (n.2525+190_2525+192del) n.2656+190_2656+192del c.2921+190_2921+192del (n.2921+190_2921+192del) n.3101+190_3101+192del n.3081+190_3081+192del c.2573+190_2573+192del (n.2573+190_2573+192del) n.3066+190_3066+192del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228068T>C | CA743608799 | SLC4A11 | c.2558+191A>G (n.2558+191A>G) c.2489+191A>G (n.2489+191A>G) c.2357+191A>G (n.2357+191A>G) c.2444+191A>G (n.2444+191A>G) c.2606+191A>G (n.2606+191A>G) c.2687+191A>G (n.2687+191A>G) c.*706+191A>G (n.*706+191A>G) c.2927+191A>G (n.2927+191A>G) c.2501+191A>G (n.2501+191A>G) c.2525+191A>G (n.2525+191A>G) n.2656+191A>G c.2921+191A>G (n.2921+191A>G) n.3101+191A>G n.3081+191A>G c.2573+191A>G (n.2573+191A>G) n.3066+191A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228068T= | CA2346474779 | SLC4A11 | c.2558+191A= (n.2558+191A=) c.2489+191A= (n.2489+191A=) c.2357+191A= (n.2357+191A=) c.2444+191A= (n.2444+191A=) c.2606+191A= (n.2606+191A=) c.2687+191A= (n.2687+191A=) c.*706+191A= (n.*706+191A=) c.2927+191A= (n.2927+191A=) c.2501+191A= (n.2501+191A=) c.2525+191A= (n.2525+191A=) n.2656+191A= c.2921+191A= (n.2921+191A=) n.3101+191A= n.3081+191A= c.2573+191A= (n.2573+191A=) n.3066+191A= | |
20 | g.3228069C>A | CA2503160890 | SLC4A11 | c.2558+190G>T (n.2558+190G>T) c.2489+190G>T (n.2489+190G>T) c.2357+190G>T (n.2357+190G>T) c.2444+190G>T (n.2444+190G>T) c.2606+190G>T (n.2606+190G>T) c.2687+190G>T (n.2687+190G>T) c.*706+190G>T (n.*706+190G>T) c.2927+190G>T (n.2927+190G>T) c.2501+190G>T (n.2501+190G>T) c.2525+190G>T (n.2525+190G>T) n.2656+190G>T c.2921+190G>T (n.2921+190G>T) n.3101+190G>T n.3081+190G>T c.2573+190G>T (n.2573+190G>T) n.3066+190G>T | |
20 | g.3228075_3228128del | CA1014849447 | SLC4A11 | c.2558+137_2558+190del (n.2558+137_2558+190del) c.2489+137_2489+190del (n.2489+137_2489+190del) c.2357+137_2357+190del (n.2357+137_2357+190del) c.2444+137_2444+190del (n.2444+137_2444+190del) c.2606+137_2606+190del (n.2606+137_2606+190del) c.2687+137_2687+190del (n.2687+137_2687+190del) c.*706+137_*706+190del (n.*706+137_*706+190del) c.2927+137_2927+190del (n.2927+137_2927+190del) c.2501+137_2501+190del (n.2501+137_2501+190del) c.2525+137_2525+190del (n.2525+137_2525+190del) n.2656+137_2656+190del c.2921+137_2921+190del (n.2921+137_2921+190del) n.3101+137_3101+190del n.3081+137_3081+190del c.2573+137_2573+190del (n.2573+137_2573+190del) n.3066+137_3066+190del | gnomAD v3 gnomAD v4 |
20 | g.3228079_3228239del | CA1014849448 | SLC4A11 | c.2558+30_2558+190del (n.2558+30_2558+190del) c.2489+30_2489+190del (n.2489+30_2489+190del) c.2357+30_2357+190del (n.2357+30_2357+190del) c.2444+30_2444+190del (n.2444+30_2444+190del) c.2606+30_2606+190del (n.2606+30_2606+190del) c.2687+30_2687+190del (n.2687+30_2687+190del) c.*706+30_*706+190del (n.*706+30_*706+190del) c.2927+30_2927+190del (n.2927+30_2927+190del) c.2501+30_2501+190del (n.2501+30_2501+190del) c.2525+30_2525+190del (n.2525+30_2525+190del) n.2656+30_2656+190del c.2921+30_2921+190del (n.2921+30_2921+190del) n.3101+30_3101+190del n.3081+30_3081+190del c.2573+30_2573+190del (n.2573+30_2573+190del) n.3066+30_3066+190del | gnomAD v3 gnomAD v4 |
20 | g.3228072C= | CA2346474780 | SLC4A11 | c.2558+187G= (n.2558+187G=) c.2489+187G= (n.2489+187G=) c.2357+187G= (n.2357+187G=) c.2444+187G= (n.2444+187G=) c.2606+187G= (n.2606+187G=) c.2687+187G= (n.2687+187G=) c.*706+187G= (n.*706+187G=) c.2927+187G= (n.2927+187G=) c.2501+187G= (n.2501+187G=) c.2525+187G= (n.2525+187G=) n.2656+187G= c.2921+187G= (n.2921+187G=) n.3101+187G= n.3081+187G= c.2573+187G= (n.2573+187G=) n.3066+187G= | |
20 | g.3228072C>T | CA743608801 | SLC4A11 | c.2558+187G>A (n.2558+187G>A) c.2489+187G>A (n.2489+187G>A) c.2357+187G>A (n.2357+187G>A) c.2444+187G>A (n.2444+187G>A) c.2606+187G>A (n.2606+187G>A) c.2687+187G>A (n.2687+187G>A) c.*706+187G>A (n.*706+187G>A) c.2927+187G>A (n.2927+187G>A) c.2501+187G>A (n.2501+187G>A) c.2525+187G>A (n.2525+187G>A) n.2656+187G>A c.2921+187G>A (n.2921+187G>A) n.3101+187G>A n.3081+187G>A c.2573+187G>A (n.2573+187G>A) n.3066+187G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228074T>G | CA2346474782 | SLC4A11 | c.2558+185A>C (n.2558+185A>C) c.2489+185A>C (n.2489+185A>C) c.2357+185A>C (n.2357+185A>C) c.2444+185A>C (n.2444+185A>C) c.2606+185A>C (n.2606+185A>C) c.2687+185A>C (n.2687+185A>C) c.*706+185A>C (n.*706+185A>C) c.2927+185A>C (n.2927+185A>C) c.2501+185A>C (n.2501+185A>C) c.2525+185A>C (n.2525+185A>C) n.2656+185A>C c.2921+185A>C (n.2921+185A>C) n.3101+185A>C n.3081+185A>C c.2573+185A>C (n.2573+185A>C) n.3066+185A>C | dbSNP |
20 | g.3228074T= | CA2346474781 | SLC4A11 | c.2558+185A= (n.2558+185A=) c.2489+185A= (n.2489+185A=) c.2357+185A= (n.2357+185A=) c.2444+185A= (n.2444+185A=) c.2606+185A= (n.2606+185A=) c.2687+185A= (n.2687+185A=) c.*706+185A= (n.*706+185A=) c.2927+185A= (n.2927+185A=) c.2501+185A= (n.2501+185A=) c.2525+185A= (n.2525+185A=) n.2656+185A= c.2921+185A= (n.2921+185A=) n.3101+185A= n.3081+185A= c.2573+185A= (n.2573+185A=) n.3066+185A= | |
20 | g.3228078del | CA2736218724 | SLC4A11 | c.2558+183del (n.2558+183del) c.2489+183del (n.2489+183del) c.2357+183del (n.2357+183del) c.2444+183del (n.2444+183del) c.2606+183del (n.2606+183del) c.2687+183del (n.2687+183del) c.*706+183del (n.*706+183del) c.2927+183del (n.2927+183del) c.2501+183del (n.2501+183del) c.2525+183del (n.2525+183del) n.2656+183del c.2921+183del (n.2921+183del) n.3101+183del n.3081+183del c.2573+183del (n.2573+183del) n.3066+183del | dbSNP |
20 | g.3228077C>A | CA2736218805 | SLC4A11 | c.2558+182G>T (n.2558+182G>T) c.2489+182G>T (n.2489+182G>T) c.2357+182G>T (n.2357+182G>T) c.2444+182G>T (n.2444+182G>T) c.2606+182G>T (n.2606+182G>T) c.2687+182G>T (n.2687+182G>T) c.*706+182G>T (n.*706+182G>T) c.2927+182G>T (n.2927+182G>T) c.2501+182G>T (n.2501+182G>T) c.2525+182G>T (n.2525+182G>T) n.2656+182G>T c.2921+182G>T (n.2921+182G>T) n.3101+182G>T n.3081+182G>T c.2573+182G>T (n.2573+182G>T) n.3066+182G>T | dbSNP |
20 | g.3228078C= | CA2346474783 | SLC4A11 | c.2558+181G= (n.2558+181G=) c.2489+181G= (n.2489+181G=) c.2357+181G= (n.2357+181G=) c.2444+181G= (n.2444+181G=) c.2606+181G= (n.2606+181G=) c.2687+181G= (n.2687+181G=) c.*706+181G= (n.*706+181G=) c.2927+181G= (n.2927+181G=) c.2501+181G= (n.2501+181G=) c.2525+181G= (n.2525+181G=) n.2656+181G= c.2921+181G= (n.2921+181G=) n.3101+181G= n.3081+181G= c.2573+181G= (n.2573+181G=) n.3066+181G= | |
20 | g.3228078C>T | CA1014849449 | SLC4A11 | c.2558+181G>A (n.2558+181G>A) c.2489+181G>A (n.2489+181G>A) c.2357+181G>A (n.2357+181G>A) c.2444+181G>A (n.2444+181G>A) c.2606+181G>A (n.2606+181G>A) c.2687+181G>A (n.2687+181G>A) c.*706+181G>A (n.*706+181G>A) c.2927+181G>A (n.2927+181G>A) c.2501+181G>A (n.2501+181G>A) c.2525+181G>A (n.2525+181G>A) n.2656+181G>A c.2921+181G>A (n.2921+181G>A) n.3101+181G>A n.3081+181G>A c.2573+181G>A (n.2573+181G>A) n.3066+181G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228079G>A | CA743608803 | SLC4A11 | c.2558+180C>T (n.2558+180C>T) c.2489+180C>T (n.2489+180C>T) c.2357+180C>T (n.2357+180C>T) c.2444+180C>T (n.2444+180C>T) c.2606+180C>T (n.2606+180C>T) c.2687+180C>T (n.2687+180C>T) c.*706+180C>T (n.*706+180C>T) c.2927+180C>T (n.2927+180C>T) c.2501+180C>T (n.2501+180C>T) c.2525+180C>T (n.2525+180C>T) n.2656+180C>T c.2921+180C>T (n.2921+180C>T) n.3101+180C>T n.3081+180C>T c.2573+180C>T (n.2573+180C>T) n.3066+180C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228079G= | CA2346474784 | SLC4A11 | c.2558+180C= (n.2558+180C=) c.2489+180C= (n.2489+180C=) c.2357+180C= (n.2357+180C=) c.2444+180C= (n.2444+180C=) c.2606+180C= (n.2606+180C=) c.2687+180C= (n.2687+180C=) c.*706+180C= (n.*706+180C=) c.2927+180C= (n.2927+180C=) c.2501+180C= (n.2501+180C=) c.2525+180C= (n.2525+180C=) n.2656+180C= c.2921+180C= (n.2921+180C=) n.3101+180C= n.3081+180C= c.2573+180C= (n.2573+180C=) n.3066+180C= | |
20 | g.3228079G>T | CA2815075139 | SLC4A11 | c.2558+180C>A (n.2558+180C>A) c.2489+180C>A (n.2489+180C>A) c.2357+180C>A (n.2357+180C>A) c.2444+180C>A (n.2444+180C>A) c.2606+180C>A (n.2606+180C>A) c.2687+180C>A (n.2687+180C>A) c.*706+180C>A (n.*706+180C>A) c.2927+180C>A (n.2927+180C>A) c.2501+180C>A (n.2501+180C>A) c.2525+180C>A (n.2525+180C>A) n.2656+180C>A c.2921+180C>A (n.2921+180C>A) n.3101+180C>A n.3081+180C>A c.2573+180C>A (n.2573+180C>A) n.3066+180C>A | |
20 | g.3228080C= | CA2346474785 | SLC4A11 | c.2558+179G= (n.2558+179G=) c.2489+179G= (n.2489+179G=) c.2357+179G= (n.2357+179G=) c.2444+179G= (n.2444+179G=) c.2606+179G= (n.2606+179G=) c.2687+179G= (n.2687+179G=) c.*706+179G= (n.*706+179G=) c.2927+179G= (n.2927+179G=) c.2501+179G= (n.2501+179G=) c.2525+179G= (n.2525+179G=) n.2656+179G= c.2921+179G= (n.2921+179G=) n.3101+179G= n.3081+179G= c.2573+179G= (n.2573+179G=) n.3066+179G= | |
20 | g.3228080C>G | CA743608804 | SLC4A11 | c.2558+179G>C (n.2558+179G>C) c.2489+179G>C (n.2489+179G>C) c.2357+179G>C (n.2357+179G>C) c.2444+179G>C (n.2444+179G>C) c.2606+179G>C (n.2606+179G>C) c.2687+179G>C (n.2687+179G>C) c.*706+179G>C (n.*706+179G>C) c.2927+179G>C (n.2927+179G>C) c.2501+179G>C (n.2501+179G>C) c.2525+179G>C (n.2525+179G>C) n.2656+179G>C c.2921+179G>C (n.2921+179G>C) n.3101+179G>C n.3081+179G>C c.2573+179G>C (n.2573+179G>C) n.3066+179G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228080C>T | CA2346474786 | SLC4A11 | c.2558+179G>A (n.2558+179G>A) c.2489+179G>A (n.2489+179G>A) c.2357+179G>A (n.2357+179G>A) c.2444+179G>A (n.2444+179G>A) c.2606+179G>A (n.2606+179G>A) c.2687+179G>A (n.2687+179G>A) c.*706+179G>A (n.*706+179G>A) c.2927+179G>A (n.2927+179G>A) c.2501+179G>A (n.2501+179G>A) c.2525+179G>A (n.2525+179G>A) n.2656+179G>A c.2921+179G>A (n.2921+179G>A) n.3101+179G>A n.3081+179G>A c.2573+179G>A (n.2573+179G>A) n.3066+179G>A | dbSNP |
20 | g.3228082del | CA2815075140 | SLC4A11 | c.2558+177del (n.2558+177del) c.2489+177del (n.2489+177del) c.2357+177del (n.2357+177del) c.2444+177del (n.2444+177del) c.2606+177del (n.2606+177del) c.2687+177del (n.2687+177del) c.*706+177del (n.*706+177del) c.2927+177del (n.2927+177del) c.2501+177del (n.2501+177del) c.2525+177del (n.2525+177del) n.2656+177del c.2921+177del (n.2921+177del) n.3101+177del n.3081+177del c.2573+177del (n.2573+177del) n.3066+177del | |
20 | g.3228083G>C | CA634173536 | SLC4A11 | c.2558+176C>G (n.2558+176C>G) c.2489+176C>G (n.2489+176C>G) c.2357+176C>G (n.2357+176C>G) c.2444+176C>G (n.2444+176C>G) c.2606+176C>G (n.2606+176C>G) c.2687+176C>G (n.2687+176C>G) c.*706+176C>G (n.*706+176C>G) c.2927+176C>G (n.2927+176C>G) c.2501+176C>G (n.2501+176C>G) c.2525+176C>G (n.2525+176C>G) n.2656+176C>G c.2921+176C>G (n.2921+176C>G) n.3101+176C>G n.3081+176C>G c.2573+176C>G (n.2573+176C>G) n.3066+176C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228083G= | CA2346474787 | SLC4A11 | c.2558+176C= (n.2558+176C=) c.2489+176C= (n.2489+176C=) c.2357+176C= (n.2357+176C=) c.2444+176C= (n.2444+176C=) c.2606+176C= (n.2606+176C=) c.2687+176C= (n.2687+176C=) c.*706+176C= (n.*706+176C=) c.2927+176C= (n.2927+176C=) c.2501+176C= (n.2501+176C=) c.2525+176C= (n.2525+176C=) n.2656+176C= c.2921+176C= (n.2921+176C=) n.3101+176C= n.3081+176C= c.2573+176C= (n.2573+176C=) n.3066+176C= | |
20 | g.3228083_3228087del | CA1014849450 | SLC4A11 | c.2558+172_2558+176del (n.2558+172_2558+176del) c.2489+172_2489+176del (n.2489+172_2489+176del) c.2357+172_2357+176del (n.2357+172_2357+176del) c.2444+172_2444+176del (n.2444+172_2444+176del) c.2606+172_2606+176del (n.2606+172_2606+176del) c.2687+172_2687+176del (n.2687+172_2687+176del) c.*706+172_*706+176del (n.*706+172_*706+176del) c.2927+172_2927+176del (n.2927+172_2927+176del) c.2501+172_2501+176del (n.2501+172_2501+176del) c.2525+172_2525+176del (n.2525+172_2525+176del) n.2656+172_2656+176del c.2921+172_2921+176del (n.2921+172_2921+176del) n.3101+172_3101+176del n.3081+172_3081+176del c.2573+172_2573+176del (n.2573+172_2573+176del) n.3066+172_3066+176del | gnomAD v3 gnomAD v4 |
20 | g.3228085C= | CA2346474788 | SLC4A11 | c.2558+174G= (n.2558+174G=) c.2489+174G= (n.2489+174G=) c.2357+174G= (n.2357+174G=) c.2444+174G= (n.2444+174G=) c.2606+174G= (n.2606+174G=) c.2687+174G= (n.2687+174G=) c.*706+174G= (n.*706+174G=) c.2927+174G= (n.2927+174G=) c.2501+174G= (n.2501+174G=) c.2525+174G= (n.2525+174G=) n.2656+174G= c.2921+174G= (n.2921+174G=) n.3101+174G= n.3081+174G= c.2573+174G= (n.2573+174G=) n.3066+174G= | |
20 | g.3228085C>T | CA310984515 | SLC4A11 | c.2558+174G>A (n.2558+174G>A) c.2489+174G>A (n.2489+174G>A) c.2357+174G>A (n.2357+174G>A) c.2444+174G>A (n.2444+174G>A) c.2606+174G>A (n.2606+174G>A) c.2687+174G>A (n.2687+174G>A) c.*706+174G>A (n.*706+174G>A) c.2927+174G>A (n.2927+174G>A) c.2501+174G>A (n.2501+174G>A) c.2525+174G>A (n.2525+174G>A) n.2656+174G>A c.2921+174G>A (n.2921+174G>A) n.3101+174G>A n.3081+174G>A c.2573+174G>A (n.2573+174G>A) n.3066+174G>A | dbSNP |
20 | g.3228086T>A | CA634173537 | SLC4A11 | c.2558+173A>T (n.2558+173A>T) c.2489+173A>T (n.2489+173A>T) c.2357+173A>T (n.2357+173A>T) c.2444+173A>T (n.2444+173A>T) c.2606+173A>T (n.2606+173A>T) c.2687+173A>T (n.2687+173A>T) c.*706+173A>T (n.*706+173A>T) c.2927+173A>T (n.2927+173A>T) c.2501+173A>T (n.2501+173A>T) c.2525+173A>T (n.2525+173A>T) n.2656+173A>T c.2921+173A>T (n.2921+173A>T) n.3101+173A>T n.3081+173A>T c.2573+173A>T (n.2573+173A>T) n.3066+173A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228086T>C | CA2346474791 | SLC4A11 | c.2558+173A>G (n.2558+173A>G) c.2489+173A>G (n.2489+173A>G) c.2357+173A>G (n.2357+173A>G) c.2444+173A>G (n.2444+173A>G) c.2606+173A>G (n.2606+173A>G) c.2687+173A>G (n.2687+173A>G) c.*706+173A>G (n.*706+173A>G) c.2927+173A>G (n.2927+173A>G) c.2501+173A>G (n.2501+173A>G) c.2525+173A>G (n.2525+173A>G) n.2656+173A>G c.2921+173A>G (n.2921+173A>G) n.3101+173A>G n.3081+173A>G c.2573+173A>G (n.2573+173A>G) n.3066+173A>G | dbSNP |
20 | g.3228086T>G | CA2815075141 | SLC4A11 | c.2558+173A>C (n.2558+173A>C) c.2489+173A>C (n.2489+173A>C) c.2357+173A>C (n.2357+173A>C) c.2444+173A>C (n.2444+173A>C) c.2606+173A>C (n.2606+173A>C) c.2687+173A>C (n.2687+173A>C) c.*706+173A>C (n.*706+173A>C) c.2927+173A>C (n.2927+173A>C) c.2501+173A>C (n.2501+173A>C) c.2525+173A>C (n.2525+173A>C) n.2656+173A>C c.2921+173A>C (n.2921+173A>C) n.3101+173A>C n.3081+173A>C c.2573+173A>C (n.2573+173A>C) n.3066+173A>C | |
20 | g.3228086T= | CA2346474790 | SLC4A11 | c.2558+173A= (n.2558+173A=) c.2489+173A= (n.2489+173A=) c.2357+173A= (n.2357+173A=) c.2444+173A= (n.2444+173A=) c.2606+173A= (n.2606+173A=) c.2687+173A= (n.2687+173A=) c.*706+173A= (n.*706+173A=) c.2927+173A= (n.2927+173A=) c.2501+173A= (n.2501+173A=) c.2525+173A= (n.2525+173A=) n.2656+173A= c.2921+173A= (n.2921+173A=) n.3101+173A= n.3081+173A= c.2573+173A= (n.2573+173A=) n.3066+173A= | |
20 | g.3228086_3228192del | CA1014849451 | SLC4A11 | c.2558+67_2558+173del (n.2558+67_2558+173del) c.2489+67_2489+173del (n.2489+67_2489+173del) c.2357+67_2357+173del (n.2357+67_2357+173del) c.2444+67_2444+173del (n.2444+67_2444+173del) c.2606+67_2606+173del (n.2606+67_2606+173del) c.2687+67_2687+173del (n.2687+67_2687+173del) c.*706+67_*706+173del (n.*706+67_*706+173del) c.2927+67_2927+173del (n.2927+67_2927+173del) c.2501+67_2501+173del (n.2501+67_2501+173del) c.2525+67_2525+173del (n.2525+67_2525+173del) n.2656+67_2656+173del c.2921+67_2921+173del (n.2921+67_2921+173del) n.3101+67_3101+173del n.3081+67_3081+173del c.2573+67_2573+173del (n.2573+67_2573+173del) n.3066+67_3066+173del | gnomAD v3 gnomAD v4 |
20 | g.3228086_3228193delinsTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTG | CA2346474789 | SLC4A11 | c.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2558+66_2558+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2489+66_2489+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2489+66_2489+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2357+66_2357+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2357+66_2357+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2444+66_2444+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2444+66_2444+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2606+66_2606+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2606+66_2606+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2687+66_2687+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2687+66_2687+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.*706+66_*706+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.*706+66_*706+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2927+66_2927+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2927+66_2927+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2501+66_2501+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) c.2525+66_2525+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2525+66_2525+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) n.2656+66_2656+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA c.2921+66_2921+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2921+66_2921+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) n.3101+66_3101+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA n.3081+66_3081+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA c.2573+66_2573+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA (n.2573+66_2573+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA) n.3066+66_3066+173delinsCAGCGGCTGGGAGGAGGGGTCCCACCTAGGGGCGGAGAATGGGCGGGTTGGGGTGGGTGCCCAGGAGGAGGGGTCCTGCCTAGGGGTGGAGAGTGGGCGGGCTGGGGA | |
20 | g.3228087C= | CA2346474792 | SLC4A11 | c.2558+172G= (n.2558+172G=) c.2489+172G= (n.2489+172G=) c.2357+172G= (n.2357+172G=) c.2444+172G= (n.2444+172G=) c.2606+172G= (n.2606+172G=) c.2687+172G= (n.2687+172G=) c.*706+172G= (n.*706+172G=) c.2927+172G= (n.2927+172G=) c.2501+172G= (n.2501+172G=) c.2525+172G= (n.2525+172G=) n.2656+172G= c.2921+172G= (n.2921+172G=) n.3101+172G= n.3081+172G= c.2573+172G= (n.2573+172G=) n.3066+172G= | |
20 | g.3228087C>T | CA2346474793 | SLC4A11 | c.2558+172G>A (n.2558+172G>A) c.2489+172G>A (n.2489+172G>A) c.2357+172G>A (n.2357+172G>A) c.2444+172G>A (n.2444+172G>A) c.2606+172G>A (n.2606+172G>A) c.2687+172G>A (n.2687+172G>A) c.*706+172G>A (n.*706+172G>A) c.2927+172G>A (n.2927+172G>A) c.2501+172G>A (n.2501+172G>A) c.2525+172G>A (n.2525+172G>A) n.2656+172G>A c.2921+172G>A (n.2921+172G>A) n.3101+172G>A n.3081+172G>A c.2573+172G>A (n.2573+172G>A) n.3066+172G>A | dbSNP |
20 | g.3228101_3228207del | CA634173538 | SLC4A11 | c.2558+66_2558+172del (n.2558+66_2558+172del) c.2489+66_2489+172del (n.2489+66_2489+172del) c.2357+66_2357+172del (n.2357+66_2357+172del) c.2444+66_2444+172del (n.2444+66_2444+172del) c.2606+66_2606+172del (n.2606+66_2606+172del) c.2687+66_2687+172del (n.2687+66_2687+172del) c.*706+66_*706+172del (n.*706+66_*706+172del) c.2927+66_2927+172del (n.2927+66_2927+172del) c.2501+66_2501+172del (n.2501+66_2501+172del) c.2525+66_2525+172del (n.2525+66_2525+172del) n.2656+66_2656+172del c.2921+66_2921+172del (n.2921+66_2921+172del) n.3101+66_3101+172del n.3081+66_3081+172del c.2573+66_2573+172del (n.2573+66_2573+172del) n.3066+66_3066+172del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228088C= | CA2346474794 | SLC4A11 | c.2558+171G= (n.2558+171G=) c.2489+171G= (n.2489+171G=) c.2357+171G= (n.2357+171G=) c.2444+171G= (n.2444+171G=) c.2606+171G= (n.2606+171G=) c.2687+171G= (n.2687+171G=) c.*706+171G= (n.*706+171G=) c.2927+171G= (n.2927+171G=) c.2501+171G= (n.2501+171G=) c.2525+171G= (n.2525+171G=) n.2656+171G= c.2921+171G= (n.2921+171G=) n.3101+171G= n.3081+171G= c.2573+171G= (n.2573+171G=) n.3066+171G= | |
20 | g.3228088C>G | CA310984533 | SLC4A11 | c.2558+171G>C (n.2558+171G>C) c.2489+171G>C (n.2489+171G>C) c.2357+171G>C (n.2357+171G>C) c.2444+171G>C (n.2444+171G>C) c.2606+171G>C (n.2606+171G>C) c.2687+171G>C (n.2687+171G>C) c.*706+171G>C (n.*706+171G>C) c.2927+171G>C (n.2927+171G>C) c.2501+171G>C (n.2501+171G>C) c.2525+171G>C (n.2525+171G>C) n.2656+171G>C c.2921+171G>C (n.2921+171G>C) n.3101+171G>C n.3081+171G>C c.2573+171G>C (n.2573+171G>C) n.3066+171G>C | dbSNP |
20 | g.3228088C>T | CA2501282799 | SLC4A11 | c.2558+171G>A (n.2558+171G>A) c.2489+171G>A (n.2489+171G>A) c.2357+171G>A (n.2357+171G>A) c.2444+171G>A (n.2444+171G>A) c.2606+171G>A (n.2606+171G>A) c.2687+171G>A (n.2687+171G>A) c.*706+171G>A (n.*706+171G>A) c.2927+171G>A (n.2927+171G>A) c.2501+171G>A (n.2501+171G>A) c.2525+171G>A (n.2525+171G>A) n.2656+171G>A c.2921+171G>A (n.2921+171G>A) n.3101+171G>A n.3081+171G>A c.2573+171G>A (n.2573+171G>A) n.3066+171G>A | |
20 | g.3228091A= | CA2346474795 | SLC4A11 | c.2558+168T= (n.2558+168T=) c.2489+168T= (n.2489+168T=) c.2357+168T= (n.2357+168T=) c.2444+168T= (n.2444+168T=) c.2606+168T= (n.2606+168T=) c.2687+168T= (n.2687+168T=) c.*706+168T= (n.*706+168T=) c.2927+168T= (n.2927+168T=) c.2501+168T= (n.2501+168T=) c.2525+168T= (n.2525+168T=) n.2656+168T= c.2921+168T= (n.2921+168T=) n.3101+168T= n.3081+168T= c.2573+168T= (n.2573+168T=) n.3066+168T= | |
20 | g.3228091A>C | CA1014849452 | SLC4A11 | c.2558+168T>G (n.2558+168T>G) c.2489+168T>G (n.2489+168T>G) c.2357+168T>G (n.2357+168T>G) c.2444+168T>G (n.2444+168T>G) c.2606+168T>G (n.2606+168T>G) c.2687+168T>G (n.2687+168T>G) c.*706+168T>G (n.*706+168T>G) c.2927+168T>G (n.2927+168T>G) c.2501+168T>G (n.2501+168T>G) c.2525+168T>G (n.2525+168T>G) n.2656+168T>G c.2921+168T>G (n.2921+168T>G) n.3101+168T>G n.3081+168T>G c.2573+168T>G (n.2573+168T>G) n.3066+168T>G | gnomAD v3 gnomAD v4 |
20 | g.3228091A>T | CA2346474796 | SLC4A11 | c.2558+168T>A (n.2558+168T>A) c.2489+168T>A (n.2489+168T>A) c.2357+168T>A (n.2357+168T>A) c.2444+168T>A (n.2444+168T>A) c.2606+168T>A (n.2606+168T>A) c.2687+168T>A (n.2687+168T>A) c.*706+168T>A (n.*706+168T>A) c.2927+168T>A (n.2927+168T>A) c.2501+168T>A (n.2501+168T>A) c.2525+168T>A (n.2525+168T>A) n.2656+168T>A c.2921+168T>A (n.2921+168T>A) n.3101+168T>A n.3081+168T>A c.2573+168T>A (n.2573+168T>A) n.3066+168T>A | dbSNP |
20 | g.3228093C= | CA2346474797 | SLC4A11 | c.2558+166G= (n.2558+166G=) c.2489+166G= (n.2489+166G=) c.2357+166G= (n.2357+166G=) c.2444+166G= (n.2444+166G=) c.2606+166G= (n.2606+166G=) c.2687+166G= (n.2687+166G=) c.*706+166G= (n.*706+166G=) c.2927+166G= (n.2927+166G=) c.2501+166G= (n.2501+166G=) c.2525+166G= (n.2525+166G=) n.2656+166G= c.2921+166G= (n.2921+166G=) n.3101+166G= n.3081+166G= c.2573+166G= (n.2573+166G=) n.3066+166G= | |
20 | g.3228093C>T | CA2346474798 | SLC4A11 | c.2558+166G>A (n.2558+166G>A) c.2489+166G>A (n.2489+166G>A) c.2357+166G>A (n.2357+166G>A) c.2444+166G>A (n.2444+166G>A) c.2606+166G>A (n.2606+166G>A) c.2687+166G>A (n.2687+166G>A) c.*706+166G>A (n.*706+166G>A) c.2927+166G>A (n.2927+166G>A) c.2501+166G>A (n.2501+166G>A) c.2525+166G>A (n.2525+166G>A) n.2656+166G>A c.2921+166G>A (n.2921+166G>A) n.3101+166G>A n.3081+166G>A c.2573+166G>A (n.2573+166G>A) n.3066+166G>A | dbSNP |
20 | g.3228101_3228154del | CA1014849453 | SLC4A11 | c.2558+113_2558+166del (n.2558+113_2558+166del) c.2489+113_2489+166del (n.2489+113_2489+166del) c.2357+113_2357+166del (n.2357+113_2357+166del) c.2444+113_2444+166del (n.2444+113_2444+166del) c.2606+113_2606+166del (n.2606+113_2606+166del) c.2687+113_2687+166del (n.2687+113_2687+166del) c.*706+113_*706+166del (n.*706+113_*706+166del) c.2927+113_2927+166del (n.2927+113_2927+166del) c.2501+113_2501+166del (n.2501+113_2501+166del) c.2525+113_2525+166del (n.2525+113_2525+166del) n.2656+113_2656+166del c.2921+113_2921+166del (n.2921+113_2921+166del) n.3101+113_3101+166del n.3081+113_3081+166del c.2573+113_2573+166del (n.2573+113_2573+166del) n.3066+113_3066+166del | gnomAD v3 gnomAD v4 |
20 | g.3228094C>A | CA2346474800 | SLC4A11 | c.2558+165G>T (n.2558+165G>T) c.2489+165G>T (n.2489+165G>T) c.2357+165G>T (n.2357+165G>T) c.2444+165G>T (n.2444+165G>T) c.2606+165G>T (n.2606+165G>T) c.2687+165G>T (n.2687+165G>T) c.*706+165G>T (n.*706+165G>T) c.2927+165G>T (n.2927+165G>T) c.2501+165G>T (n.2501+165G>T) c.2525+165G>T (n.2525+165G>T) n.2656+165G>T c.2921+165G>T (n.2921+165G>T) n.3101+165G>T n.3081+165G>T c.2573+165G>T (n.2573+165G>T) n.3066+165G>T | dbSNP |
20 | g.3228094C= | CA2346474799 | SLC4A11 | c.2558+165G= (n.2558+165G=) c.2489+165G= (n.2489+165G=) c.2357+165G= (n.2357+165G=) c.2444+165G= (n.2444+165G=) c.2606+165G= (n.2606+165G=) c.2687+165G= (n.2687+165G=) c.*706+165G= (n.*706+165G=) c.2927+165G= (n.2927+165G=) c.2501+165G= (n.2501+165G=) c.2525+165G= (n.2525+165G=) n.2656+165G= c.2921+165G= (n.2921+165G=) n.3101+165G= n.3081+165G= c.2573+165G= (n.2573+165G=) n.3066+165G= | |
20 | g.3228095C>A | CA2346474801 | SLC4A11 | c.2558+164G>T (n.2558+164G>T) c.2489+164G>T (n.2489+164G>T) c.2357+164G>T (n.2357+164G>T) c.2444+164G>T (n.2444+164G>T) c.2606+164G>T (n.2606+164G>T) c.2687+164G>T (n.2687+164G>T) c.*706+164G>T (n.*706+164G>T) c.2927+164G>T (n.2927+164G>T) c.2501+164G>T (n.2501+164G>T) c.2525+164G>T (n.2525+164G>T) n.2656+164G>T c.2921+164G>T (n.2921+164G>T) n.3101+164G>T n.3081+164G>T c.2573+164G>T (n.2573+164G>T) n.3066+164G>T | dbSNP |
20 | g.3228095C= | CA2346474802 | SLC4A11 | c.2558+164G= (n.2558+164G=) c.2489+164G= (n.2489+164G=) c.2357+164G= (n.2357+164G=) c.2444+164G= (n.2444+164G=) c.2606+164G= (n.2606+164G=) c.2687+164G= (n.2687+164G=) c.*706+164G= (n.*706+164G=) c.2927+164G= (n.2927+164G=) c.2501+164G= (n.2501+164G=) c.2525+164G= (n.2525+164G=) n.2656+164G= c.2921+164G= (n.2921+164G=) n.3101+164G= n.3081+164G= c.2573+164G= (n.2573+164G=) n.3066+164G= | |
20 | g.3228095C>G | CA310984534 | SLC4A11 | c.2558+164G>C (n.2558+164G>C) c.2489+164G>C (n.2489+164G>C) c.2357+164G>C (n.2357+164G>C) c.2444+164G>C (n.2444+164G>C) c.2606+164G>C (n.2606+164G>C) c.2687+164G>C (n.2687+164G>C) c.*706+164G>C (n.*706+164G>C) c.2927+164G>C (n.2927+164G>C) c.2501+164G>C (n.2501+164G>C) c.2525+164G>C (n.2525+164G>C) n.2656+164G>C c.2921+164G>C (n.2921+164G>C) n.3101+164G>C n.3081+164G>C c.2573+164G>C (n.2573+164G>C) n.3066+164G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228095C>T | CA310984536 | SLC4A11 | c.2558+164G>A (n.2558+164G>A) c.2489+164G>A (n.2489+164G>A) c.2357+164G>A (n.2357+164G>A) c.2444+164G>A (n.2444+164G>A) c.2606+164G>A (n.2606+164G>A) c.2687+164G>A (n.2687+164G>A) c.*706+164G>A (n.*706+164G>A) c.2927+164G>A (n.2927+164G>A) c.2501+164G>A (n.2501+164G>A) c.2525+164G>A (n.2525+164G>A) n.2656+164G>A c.2921+164G>A (n.2921+164G>A) n.3101+164G>A n.3081+164G>A c.2573+164G>A (n.2573+164G>A) n.3066+164G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228096G>A | CA634173539 | SLC4A11 | c.2558+163C>T (n.2558+163C>T) c.2489+163C>T (n.2489+163C>T) c.2357+163C>T (n.2357+163C>T) c.2444+163C>T (n.2444+163C>T) c.2606+163C>T (n.2606+163C>T) c.2687+163C>T (n.2687+163C>T) c.*706+163C>T (n.*706+163C>T) c.2927+163C>T (n.2927+163C>T) c.2501+163C>T (n.2501+163C>T) c.2525+163C>T (n.2525+163C>T) n.2656+163C>T c.2921+163C>T (n.2921+163C>T) n.3101+163C>T n.3081+163C>T c.2573+163C>T (n.2573+163C>T) n.3066+163C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228096G>C | CA1014849454 | SLC4A11 | c.2558+163C>G (n.2558+163C>G) c.2489+163C>G (n.2489+163C>G) c.2357+163C>G (n.2357+163C>G) c.2444+163C>G (n.2444+163C>G) c.2606+163C>G (n.2606+163C>G) c.2687+163C>G (n.2687+163C>G) c.*706+163C>G (n.*706+163C>G) c.2927+163C>G (n.2927+163C>G) c.2501+163C>G (n.2501+163C>G) c.2525+163C>G (n.2525+163C>G) n.2656+163C>G c.2921+163C>G (n.2921+163C>G) n.3101+163C>G n.3081+163C>G c.2573+163C>G (n.2573+163C>G) n.3066+163C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228096G= | CA2346474803 | SLC4A11 | c.2558+163C= (n.2558+163C=) c.2489+163C= (n.2489+163C=) c.2357+163C= (n.2357+163C=) c.2444+163C= (n.2444+163C=) c.2606+163C= (n.2606+163C=) c.2687+163C= (n.2687+163C=) c.*706+163C= (n.*706+163C=) c.2927+163C= (n.2927+163C=) c.2501+163C= (n.2501+163C=) c.2525+163C= (n.2525+163C=) n.2656+163C= c.2921+163C= (n.2921+163C=) n.3101+163C= n.3081+163C= c.2573+163C= (n.2573+163C=) n.3066+163C= | |
20 | g.3228099C= | CA2346474804 | SLC4A11 | c.2558+160G= (n.2558+160G=) c.2489+160G= (n.2489+160G=) c.2357+160G= (n.2357+160G=) c.2444+160G= (n.2444+160G=) c.2606+160G= (n.2606+160G=) c.2687+160G= (n.2687+160G=) c.*706+160G= (n.*706+160G=) c.2927+160G= (n.2927+160G=) c.2501+160G= (n.2501+160G=) c.2525+160G= (n.2525+160G=) n.2656+160G= c.2921+160G= (n.2921+160G=) n.3101+160G= n.3081+160G= c.2573+160G= (n.2573+160G=) n.3066+160G= | |
20 | g.3228099C>T | CA2346474805 | SLC4A11 | c.2558+160G>A (n.2558+160G>A) c.2489+160G>A (n.2489+160G>A) c.2357+160G>A (n.2357+160G>A) c.2444+160G>A (n.2444+160G>A) c.2606+160G>A (n.2606+160G>A) c.2687+160G>A (n.2687+160G>A) c.*706+160G>A (n.*706+160G>A) c.2927+160G>A (n.2927+160G>A) c.2501+160G>A (n.2501+160G>A) c.2525+160G>A (n.2525+160G>A) n.2656+160G>A c.2921+160G>A (n.2921+160G>A) n.3101+160G>A n.3081+160G>A c.2573+160G>A (n.2573+160G>A) n.3066+160G>A | dbSNP |
20 | g.3228100A= | CA2346474806 | SLC4A11 | c.2558+159T= (n.2558+159T=) c.2489+159T= (n.2489+159T=) c.2357+159T= (n.2357+159T=) c.2444+159T= (n.2444+159T=) c.2606+159T= (n.2606+159T=) c.2687+159T= (n.2687+159T=) c.*706+159T= (n.*706+159T=) c.2927+159T= (n.2927+159T=) c.2501+159T= (n.2501+159T=) c.2525+159T= (n.2525+159T=) n.2656+159T= c.2921+159T= (n.2921+159T=) n.3101+159T= n.3081+159T= c.2573+159T= (n.2573+159T=) n.3066+159T= | |
20 | g.3228100A>C | CA1014849455 | SLC4A11 | c.2558+159T>G (n.2558+159T>G) c.2489+159T>G (n.2489+159T>G) c.2357+159T>G (n.2357+159T>G) c.2444+159T>G (n.2444+159T>G) c.2606+159T>G (n.2606+159T>G) c.2687+159T>G (n.2687+159T>G) c.*706+159T>G (n.*706+159T>G) c.2927+159T>G (n.2927+159T>G) c.2501+159T>G (n.2501+159T>G) c.2525+159T>G (n.2525+159T>G) n.2656+159T>G c.2921+159T>G (n.2921+159T>G) n.3101+159T>G n.3081+159T>G c.2573+159T>G (n.2573+159T>G) n.3066+159T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228101C= | CA2346474807 | SLC4A11 | c.2558+158G= (n.2558+158G=) c.2489+158G= (n.2489+158G=) c.2357+158G= (n.2357+158G=) c.2444+158G= (n.2444+158G=) c.2606+158G= (n.2606+158G=) c.2687+158G= (n.2687+158G=) c.*706+158G= (n.*706+158G=) c.2927+158G= (n.2927+158G=) c.2501+158G= (n.2501+158G=) c.2525+158G= (n.2525+158G=) n.2656+158G= c.2921+158G= (n.2921+158G=) n.3101+158G= n.3081+158G= c.2573+158G= (n.2573+158G=) n.3066+158G= | |
20 | g.3228101C>G | CA743608828 | SLC4A11 | c.2558+158G>C (n.2558+158G>C) c.2489+158G>C (n.2489+158G>C) c.2357+158G>C (n.2357+158G>C) c.2444+158G>C (n.2444+158G>C) c.2606+158G>C (n.2606+158G>C) c.2687+158G>C (n.2687+158G>C) c.*706+158G>C (n.*706+158G>C) c.2927+158G>C (n.2927+158G>C) c.2501+158G>C (n.2501+158G>C) c.2525+158G>C (n.2525+158G>C) n.2656+158G>C c.2921+158G>C (n.2921+158G>C) n.3101+158G>C n.3081+158G>C c.2573+158G>C (n.2573+158G>C) n.3066+158G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228101_3228106del | CA2815075142 | SLC4A11 | c.2558+153_2558+158del (n.2558+153_2558+158del) c.2489+153_2489+158del (n.2489+153_2489+158del) c.2357+153_2357+158del (n.2357+153_2357+158del) c.2444+153_2444+158del (n.2444+153_2444+158del) c.2606+153_2606+158del (n.2606+153_2606+158del) c.2687+153_2687+158del (n.2687+153_2687+158del) c.*706+153_*706+158del (n.*706+153_*706+158del) c.2927+153_2927+158del (n.2927+153_2927+158del) c.2501+153_2501+158del (n.2501+153_2501+158del) c.2525+153_2525+158del (n.2525+153_2525+158del) n.2656+153_2656+158del c.2921+153_2921+158del (n.2921+153_2921+158del) n.3101+153_3101+158del n.3081+153_3081+158del c.2573+153_2573+158del (n.2573+153_2573+158del) n.3066+153_3066+158del | |
20 | g.3228102T>A | CA1014849457 | SLC4A11 | c.2558+157A>T (n.2558+157A>T) c.2489+157A>T (n.2489+157A>T) c.2357+157A>T (n.2357+157A>T) c.2444+157A>T (n.2444+157A>T) c.2606+157A>T (n.2606+157A>T) c.2687+157A>T (n.2687+157A>T) c.*706+157A>T (n.*706+157A>T) c.2927+157A>T (n.2927+157A>T) c.2501+157A>T (n.2501+157A>T) c.2525+157A>T (n.2525+157A>T) n.2656+157A>T c.2921+157A>T (n.2921+157A>T) n.3101+157A>T n.3081+157A>T c.2573+157A>T (n.2573+157A>T) n.3066+157A>T | gnomAD v3 gnomAD v4 |
20 | g.3228102T>G | CA2815075143 | SLC4A11 | c.2558+157A>C (n.2558+157A>C) c.2489+157A>C (n.2489+157A>C) c.2357+157A>C (n.2357+157A>C) c.2444+157A>C (n.2444+157A>C) c.2606+157A>C (n.2606+157A>C) c.2687+157A>C (n.2687+157A>C) c.*706+157A>C (n.*706+157A>C) c.2927+157A>C (n.2927+157A>C) c.2501+157A>C (n.2501+157A>C) c.2525+157A>C (n.2525+157A>C) n.2656+157A>C c.2921+157A>C (n.2921+157A>C) n.3101+157A>C n.3081+157A>C c.2573+157A>C (n.2573+157A>C) n.3066+157A>C | |
20 | g.3228107_3228160del | CA2543587601 | SLC4A11 | c.2558+104_2558+157del (n.2558+104_2558+157del) c.2489+104_2489+157del (n.2489+104_2489+157del) c.2357+104_2357+157del (n.2357+104_2357+157del) c.2444+104_2444+157del (n.2444+104_2444+157del) c.2606+104_2606+157del (n.2606+104_2606+157del) c.2687+104_2687+157del (n.2687+104_2687+157del) c.*706+104_*706+157del (n.*706+104_*706+157del) c.2927+104_2927+157del (n.2927+104_2927+157del) c.2501+104_2501+157del (n.2501+104_2501+157del) c.2525+104_2525+157del (n.2525+104_2525+157del) n.2656+104_2656+157del c.2921+104_2921+157del (n.2921+104_2921+157del) n.3101+104_3101+157del n.3081+104_3081+157del c.2573+104_2573+157del (n.2573+104_2573+157del) n.3066+104_3066+157del | |
20 | g.3228109_3228215del | CA1014849456 | SLC4A11 | c.2558+51_2558+157del (n.2558+51_2558+157del) c.2489+51_2489+157del (n.2489+51_2489+157del) c.2357+51_2357+157del (n.2357+51_2357+157del) c.2444+51_2444+157del (n.2444+51_2444+157del) c.2606+51_2606+157del (n.2606+51_2606+157del) c.2687+51_2687+157del (n.2687+51_2687+157del) c.*706+51_*706+157del (n.*706+51_*706+157del) c.2927+51_2927+157del (n.2927+51_2927+157del) c.2501+51_2501+157del (n.2501+51_2501+157del) c.2525+51_2525+157del (n.2525+51_2525+157del) n.2656+51_2656+157del c.2921+51_2921+157del (n.2921+51_2921+157del) n.3101+51_3101+157del n.3081+51_3081+157del c.2573+51_2573+157del (n.2573+51_2573+157del) n.3066+51_3066+157del | gnomAD v3 gnomAD v4 |
20 | g.3228103C>T | CA1014849458 | SLC4A11 | c.2558+156G>A (n.2558+156G>A) c.2489+156G>A (n.2489+156G>A) c.2357+156G>A (n.2357+156G>A) c.2444+156G>A (n.2444+156G>A) c.2606+156G>A (n.2606+156G>A) c.2687+156G>A (n.2687+156G>A) c.*706+156G>A (n.*706+156G>A) c.2927+156G>A (n.2927+156G>A) c.2501+156G>A (n.2501+156G>A) c.2525+156G>A (n.2525+156G>A) n.2656+156G>A c.2921+156G>A (n.2921+156G>A) n.3101+156G>A n.3081+156G>A c.2573+156G>A (n.2573+156G>A) n.3066+156G>A | gnomAD v3 gnomAD v4 |
20 | g.3228104T>A | CA2815075144 | SLC4A11 | c.2558+155A>T (n.2558+155A>T) c.2489+155A>T (n.2489+155A>T) c.2357+155A>T (n.2357+155A>T) c.2444+155A>T (n.2444+155A>T) c.2606+155A>T (n.2606+155A>T) c.2687+155A>T (n.2687+155A>T) c.*706+155A>T (n.*706+155A>T) c.2927+155A>T (n.2927+155A>T) c.2501+155A>T (n.2501+155A>T) c.2525+155A>T (n.2525+155A>T) n.2656+155A>T c.2921+155A>T (n.2921+155A>T) n.3101+155A>T n.3081+155A>T c.2573+155A>T (n.2573+155A>T) n.3066+155A>T | |
20 | g.3228104T>C | CA1014849459 | SLC4A11 | c.2558+155A>G (n.2558+155A>G) c.2489+155A>G (n.2489+155A>G) c.2357+155A>G (n.2357+155A>G) c.2444+155A>G (n.2444+155A>G) c.2606+155A>G (n.2606+155A>G) c.2687+155A>G (n.2687+155A>G) c.*706+155A>G (n.*706+155A>G) c.2927+155A>G (n.2927+155A>G) c.2501+155A>G (n.2501+155A>G) c.2525+155A>G (n.2525+155A>G) n.2656+155A>G c.2921+155A>G (n.2921+155A>G) n.3101+155A>G n.3081+155A>G c.2573+155A>G (n.2573+155A>G) n.3066+155A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228104T= | CA2346474808 | SLC4A11 | c.2558+155A= (n.2558+155A=) c.2489+155A= (n.2489+155A=) c.2357+155A= (n.2357+155A=) c.2444+155A= (n.2444+155A=) c.2606+155A= (n.2606+155A=) c.2687+155A= (n.2687+155A=) c.*706+155A= (n.*706+155A=) c.2927+155A= (n.2927+155A=) c.2501+155A= (n.2501+155A=) c.2525+155A= (n.2525+155A=) n.2656+155A= c.2921+155A= (n.2921+155A=) n.3101+155A= n.3081+155A= c.2573+155A= (n.2573+155A=) n.3066+155A= | |
20 | g.3228107A= | CA2346474810 | SLC4A11 | c.2558+152T= (n.2558+152T=) c.2489+152T= (n.2489+152T=) c.2357+152T= (n.2357+152T=) c.2444+152T= (n.2444+152T=) c.2606+152T= (n.2606+152T=) c.2687+152T= (n.2687+152T=) c.*706+152T= (n.*706+152T=) c.2927+152T= (n.2927+152T=) c.2501+152T= (n.2501+152T=) c.2525+152T= (n.2525+152T=) n.2656+152T= c.2921+152T= (n.2921+152T=) n.3101+152T= n.3081+152T= c.2573+152T= (n.2573+152T=) n.3066+152T= | |
20 | g.3228107A>C | CA1014849460 | SLC4A11 | c.2558+152T>G (n.2558+152T>G) c.2489+152T>G (n.2489+152T>G) c.2357+152T>G (n.2357+152T>G) c.2444+152T>G (n.2444+152T>G) c.2606+152T>G (n.2606+152T>G) c.2687+152T>G (n.2687+152T>G) c.*706+152T>G (n.*706+152T>G) c.2927+152T>G (n.2927+152T>G) c.2501+152T>G (n.2501+152T>G) c.2525+152T>G (n.2525+152T>G) n.2656+152T>G c.2921+152T>G (n.2921+152T>G) n.3101+152T>G n.3081+152T>G c.2573+152T>G (n.2573+152T>G) n.3066+152T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228107A>G | CA2346474809 | SLC4A11 | c.2558+152T>C (n.2558+152T>C) c.2489+152T>C (n.2489+152T>C) c.2357+152T>C (n.2357+152T>C) c.2444+152T>C (n.2444+152T>C) c.2606+152T>C (n.2606+152T>C) c.2687+152T>C (n.2687+152T>C) c.*706+152T>C (n.*706+152T>C) c.2927+152T>C (n.2927+152T>C) c.2501+152T>C (n.2501+152T>C) c.2525+152T>C (n.2525+152T>C) n.2656+152T>C c.2921+152T>C (n.2921+152T>C) n.3101+152T>C n.3081+152T>C c.2573+152T>C (n.2573+152T>C) n.3066+152T>C | dbSNP |
20 | g.3228107A>T | CA2651690908 | SLC4A11 | c.2558+152T>A (n.2558+152T>A) c.2489+152T>A (n.2489+152T>A) c.2357+152T>A (n.2357+152T>A) c.2444+152T>A (n.2444+152T>A) c.2606+152T>A (n.2606+152T>A) c.2687+152T>A (n.2687+152T>A) c.*706+152T>A (n.*706+152T>A) c.2927+152T>A (n.2927+152T>A) c.2501+152T>A (n.2501+152T>A) c.2525+152T>A (n.2525+152T>A) n.2656+152T>A c.2921+152T>A (n.2921+152T>A) n.3101+152T>A n.3081+152T>A c.2573+152T>A (n.2573+152T>A) n.3066+152T>A | gnomAD v4 |
20 | g.3228108C>A | CA743608830 | SLC4A11 | c.2558+151G>T (n.2558+151G>T) c.2489+151G>T (n.2489+151G>T) c.2357+151G>T (n.2357+151G>T) c.2444+151G>T (n.2444+151G>T) c.2606+151G>T (n.2606+151G>T) c.2687+151G>T (n.2687+151G>T) c.*706+151G>T (n.*706+151G>T) c.2927+151G>T (n.2927+151G>T) c.2501+151G>T (n.2501+151G>T) c.2525+151G>T (n.2525+151G>T) n.2656+151G>T c.2921+151G>T (n.2921+151G>T) n.3101+151G>T n.3081+151G>T c.2573+151G>T (n.2573+151G>T) n.3066+151G>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228108C= | CA2346474811 | SLC4A11 | c.2558+151G= (n.2558+151G=) c.2489+151G= (n.2489+151G=) c.2357+151G= (n.2357+151G=) c.2444+151G= (n.2444+151G=) c.2606+151G= (n.2606+151G=) c.2687+151G= (n.2687+151G=) c.*706+151G= (n.*706+151G=) c.2927+151G= (n.2927+151G=) c.2501+151G= (n.2501+151G=) c.2525+151G= (n.2525+151G=) n.2656+151G= c.2921+151G= (n.2921+151G=) n.3101+151G= n.3081+151G= c.2573+151G= (n.2573+151G=) n.3066+151G= | |
20 | g.3228108C>G | CA2651690910 | SLC4A11 | c.2558+151G>C (n.2558+151G>C) c.2489+151G>C (n.2489+151G>C) c.2357+151G>C (n.2357+151G>C) c.2444+151G>C (n.2444+151G>C) c.2606+151G>C (n.2606+151G>C) c.2687+151G>C (n.2687+151G>C) c.*706+151G>C (n.*706+151G>C) c.2927+151G>C (n.2927+151G>C) c.2501+151G>C (n.2501+151G>C) c.2525+151G>C (n.2525+151G>C) n.2656+151G>C c.2921+151G>C (n.2921+151G>C) n.3101+151G>C n.3081+151G>C c.2573+151G>C (n.2573+151G>C) n.3066+151G>C | gnomAD v4 |
20 | g.3228109_3228110insTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCCCC | CA2651690909 | SLC4A11 | c.2558+151_2558+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2558+151_2558+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2489+151_2489+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2489+151_2489+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2357+151_2357+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2357+151_2357+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2444+151_2444+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2444+151_2444+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2606+151_2606+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2606+151_2606+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2687+151_2687+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2687+151_2687+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.*706+151_*706+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.*706+151_*706+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2927+151_2927+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2927+151_2927+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2501+151_2501+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2501+151_2501+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) c.2525+151_2525+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2525+151_2525+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) n.2656+151_2656+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG c.2921+151_2921+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2921+151_2921+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) n.3101+151_3101+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG n.3081+151_3081+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG c.2573+151_2573+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG (n.2573+151_2573+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG) n.3066+151_3066+152insGGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGGAGGAGCCCAGCCTAGAGG | gnomAD v4 |
20 | g.3228116_3228169del | CA1014849461 | SLC4A11 | c.2558+98_2558+151del (n.2558+98_2558+151del) c.2489+98_2489+151del (n.2489+98_2489+151del) c.2357+98_2357+151del (n.2357+98_2357+151del) c.2444+98_2444+151del (n.2444+98_2444+151del) c.2606+98_2606+151del (n.2606+98_2606+151del) c.2687+98_2687+151del (n.2687+98_2687+151del) c.*706+98_*706+151del (n.*706+98_*706+151del) c.2927+98_2927+151del (n.2927+98_2927+151del) c.2501+98_2501+151del (n.2501+98_2501+151del) c.2525+98_2525+151del (n.2525+98_2525+151del) n.2656+98_2656+151del c.2921+98_2921+151del (n.2921+98_2921+151del) n.3101+98_3101+151del n.3081+98_3081+151del c.2573+98_2573+151del (n.2573+98_2573+151del) n.3066+98_3066+151del | gnomAD v3 gnomAD v4 |
20 | g.3228109C>A | CA310984538 | SLC4A11 | c.2558+150G>T (n.2558+150G>T) c.2489+150G>T (n.2489+150G>T) c.2357+150G>T (n.2357+150G>T) c.2444+150G>T (n.2444+150G>T) c.2606+150G>T (n.2606+150G>T) c.2687+150G>T (n.2687+150G>T) c.*706+150G>T (n.*706+150G>T) c.2927+150G>T (n.2927+150G>T) c.2501+150G>T (n.2501+150G>T) c.2525+150G>T (n.2525+150G>T) n.2656+150G>T c.2921+150G>T (n.2921+150G>T) n.3101+150G>T n.3081+150G>T c.2573+150G>T (n.2573+150G>T) n.3066+150G>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228109C= | CA2346474812 | SLC4A11 | c.2558+150G= (n.2558+150G=) c.2489+150G= (n.2489+150G=) c.2357+150G= (n.2357+150G=) c.2444+150G= (n.2444+150G=) c.2606+150G= (n.2606+150G=) c.2687+150G= (n.2687+150G=) c.*706+150G= (n.*706+150G=) c.2927+150G= (n.2927+150G=) c.2501+150G= (n.2501+150G=) c.2525+150G= (n.2525+150G=) n.2656+150G= c.2921+150G= (n.2921+150G=) n.3101+150G= n.3081+150G= c.2573+150G= (n.2573+150G=) n.3066+150G= | |
20 | g.3228109C>G | CA2651690911 | SLC4A11 | c.2558+150G>C (n.2558+150G>C) c.2489+150G>C (n.2489+150G>C) c.2357+150G>C (n.2357+150G>C) c.2444+150G>C (n.2444+150G>C) c.2606+150G>C (n.2606+150G>C) c.2687+150G>C (n.2687+150G>C) c.*706+150G>C (n.*706+150G>C) c.2927+150G>C (n.2927+150G>C) c.2501+150G>C (n.2501+150G>C) c.2525+150G>C (n.2525+150G>C) n.2656+150G>C c.2921+150G>C (n.2921+150G>C) n.3101+150G>C n.3081+150G>C c.2573+150G>C (n.2573+150G>C) n.3066+150G>C | gnomAD v4 |
20 | g.3228109C>T | CA2346474813 | SLC4A11 | c.2558+150G>A (n.2558+150G>A) c.2489+150G>A (n.2489+150G>A) c.2357+150G>A (n.2357+150G>A) c.2444+150G>A (n.2444+150G>A) c.2606+150G>A (n.2606+150G>A) c.2687+150G>A (n.2687+150G>A) c.*706+150G>A (n.*706+150G>A) c.2927+150G>A (n.2927+150G>A) c.2501+150G>A (n.2501+150G>A) c.2525+150G>A (n.2525+150G>A) n.2656+150G>A c.2921+150G>A (n.2921+150G>A) n.3101+150G>A n.3081+150G>A c.2573+150G>A (n.2573+150G>A) n.3066+150G>A | dbSNP gnomAD v4 |
20 | g.3228109_3228110insTCTAGGCTGGGCT | CA2651690913 | SLC4A11 | c.2558+149_2558+150insAGCCCAGCCTAGA (n.2558+149_2558+150insAGCCCAGCCTAGA) c.2489+149_2489+150insAGCCCAGCCTAGA (n.2489+149_2489+150insAGCCCAGCCTAGA) c.2357+149_2357+150insAGCCCAGCCTAGA (n.2357+149_2357+150insAGCCCAGCCTAGA) c.2444+149_2444+150insAGCCCAGCCTAGA (n.2444+149_2444+150insAGCCCAGCCTAGA) c.2606+149_2606+150insAGCCCAGCCTAGA (n.2606+149_2606+150insAGCCCAGCCTAGA) c.2687+149_2687+150insAGCCCAGCCTAGA (n.2687+149_2687+150insAGCCCAGCCTAGA) c.*706+149_*706+150insAGCCCAGCCTAGA (n.*706+149_*706+150insAGCCCAGCCTAGA) c.2927+149_2927+150insAGCCCAGCCTAGA (n.2927+149_2927+150insAGCCCAGCCTAGA) c.2501+149_2501+150insAGCCCAGCCTAGA (n.2501+149_2501+150insAGCCCAGCCTAGA) c.2525+149_2525+150insAGCCCAGCCTAGA (n.2525+149_2525+150insAGCCCAGCCTAGA) n.2656+149_2656+150insAGCCCAGCCTAGA c.2921+149_2921+150insAGCCCAGCCTAGA (n.2921+149_2921+150insAGCCCAGCCTAGA) n.3101+149_3101+150insAGCCCAGCCTAGA n.3081+149_3081+150insAGCCCAGCCTAGA c.2573+149_2573+150insAGCCCAGCCTAGA (n.2573+149_2573+150insAGCCCAGCCTAGA) n.3066+149_3066+150insAGCCCAGCCTAGA | gnomAD v4 |
20 | g.3228110C>A | CA2651690912 | SLC4A11 | c.2558+149G>T (n.2558+149G>T) c.2489+149G>T (n.2489+149G>T) c.2357+149G>T (n.2357+149G>T) c.2444+149G>T (n.2444+149G>T) c.2606+149G>T (n.2606+149G>T) c.2687+149G>T (n.2687+149G>T) c.*706+149G>T (n.*706+149G>T) c.2927+149G>T (n.2927+149G>T) c.2501+149G>T (n.2501+149G>T) c.2525+149G>T (n.2525+149G>T) n.2656+149G>T c.2921+149G>T (n.2921+149G>T) n.3101+149G>T n.3081+149G>T c.2573+149G>T (n.2573+149G>T) n.3066+149G>T | gnomAD v4 |
20 | g.3228110C= | CA2346474814 | SLC4A11 | c.2558+149G= (n.2558+149G=) c.2489+149G= (n.2489+149G=) c.2357+149G= (n.2357+149G=) c.2444+149G= (n.2444+149G=) c.2606+149G= (n.2606+149G=) c.2687+149G= (n.2687+149G=) c.*706+149G= (n.*706+149G=) c.2927+149G= (n.2927+149G=) c.2501+149G= (n.2501+149G=) c.2525+149G= (n.2525+149G=) n.2656+149G= c.2921+149G= (n.2921+149G=) n.3101+149G= n.3081+149G= c.2573+149G= (n.2573+149G=) n.3066+149G= | |
20 | g.3228110C>T | CA634173540 | SLC4A11 | c.2558+149G>A (n.2558+149G>A) c.2489+149G>A (n.2489+149G>A) c.2357+149G>A (n.2357+149G>A) c.2444+149G>A (n.2444+149G>A) c.2606+149G>A (n.2606+149G>A) c.2687+149G>A (n.2687+149G>A) c.*706+149G>A (n.*706+149G>A) c.2927+149G>A (n.2927+149G>A) c.2501+149G>A (n.2501+149G>A) c.2525+149G>A (n.2525+149G>A) n.2656+149G>A c.2921+149G>A (n.2921+149G>A) n.3101+149G>A n.3081+149G>A c.2573+149G>A (n.2573+149G>A) n.3066+149G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228115_3228221del | CA1014849462 | SLC4A11 | c.2558+43_2558+149del (n.2558+43_2558+149del) c.2489+43_2489+149del (n.2489+43_2489+149del) c.2357+43_2357+149del (n.2357+43_2357+149del) c.2444+43_2444+149del (n.2444+43_2444+149del) c.2606+43_2606+149del (n.2606+43_2606+149del) c.2687+43_2687+149del (n.2687+43_2687+149del) c.*706+43_*706+149del (n.*706+43_*706+149del) c.2927+43_2927+149del (n.2927+43_2927+149del) c.2501+43_2501+149del (n.2501+43_2501+149del) c.2525+43_2525+149del (n.2525+43_2525+149del) n.2656+43_2656+149del c.2921+43_2921+149del (n.2921+43_2921+149del) n.3101+43_3101+149del n.3081+43_3081+149del c.2573+43_2573+149del (n.2573+43_2573+149del) n.3066+43_3066+149del | gnomAD v3 gnomAD v4 |
20 | g.3228111C>A | CA2651690914 | SLC4A11 | c.2558+148G>T (n.2558+148G>T) c.2489+148G>T (n.2489+148G>T) c.2357+148G>T (n.2357+148G>T) c.2444+148G>T (n.2444+148G>T) c.2606+148G>T (n.2606+148G>T) c.2687+148G>T (n.2687+148G>T) c.*706+148G>T (n.*706+148G>T) c.2927+148G>T (n.2927+148G>T) c.2501+148G>T (n.2501+148G>T) c.2525+148G>T (n.2525+148G>T) n.2656+148G>T c.2921+148G>T (n.2921+148G>T) n.3101+148G>T n.3081+148G>T c.2573+148G>T (n.2573+148G>T) n.3066+148G>T | gnomAD v4 |
20 | g.3228112T>A | CA2651690915 | SLC4A11 | c.2558+147A>T (n.2558+147A>T) c.2489+147A>T (n.2489+147A>T) c.2357+147A>T (n.2357+147A>T) c.2444+147A>T (n.2444+147A>T) c.2606+147A>T (n.2606+147A>T) c.2687+147A>T (n.2687+147A>T) c.*706+147A>T (n.*706+147A>T) c.2927+147A>T (n.2927+147A>T) c.2501+147A>T (n.2501+147A>T) c.2525+147A>T (n.2525+147A>T) n.2656+147A>T c.2921+147A>T (n.2921+147A>T) n.3101+147A>T n.3081+147A>T c.2573+147A>T (n.2573+147A>T) n.3066+147A>T | gnomAD v4 |
20 | g.3228112T>C | CA634173541 | SLC4A11 | c.2558+147A>G (n.2558+147A>G) c.2489+147A>G (n.2489+147A>G) c.2357+147A>G (n.2357+147A>G) c.2444+147A>G (n.2444+147A>G) c.2606+147A>G (n.2606+147A>G) c.2687+147A>G (n.2687+147A>G) c.*706+147A>G (n.*706+147A>G) c.2927+147A>G (n.2927+147A>G) c.2501+147A>G (n.2501+147A>G) c.2525+147A>G (n.2525+147A>G) n.2656+147A>G c.2921+147A>G (n.2921+147A>G) n.3101+147A>G n.3081+147A>G c.2573+147A>G (n.2573+147A>G) n.3066+147A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228112T>G | CA2651690916 | SLC4A11 | c.2558+147A>C (n.2558+147A>C) c.2489+147A>C (n.2489+147A>C) c.2357+147A>C (n.2357+147A>C) c.2444+147A>C (n.2444+147A>C) c.2606+147A>C (n.2606+147A>C) c.2687+147A>C (n.2687+147A>C) c.*706+147A>C (n.*706+147A>C) c.2927+147A>C (n.2927+147A>C) c.2501+147A>C (n.2501+147A>C) c.2525+147A>C (n.2525+147A>C) n.2656+147A>C c.2921+147A>C (n.2921+147A>C) n.3101+147A>C n.3081+147A>C c.2573+147A>C (n.2573+147A>C) n.3066+147A>C | gnomAD v4 |
20 | g.3228112T= | CA2346474815 | SLC4A11 | c.2558+147A= (n.2558+147A=) c.2489+147A= (n.2489+147A=) c.2357+147A= (n.2357+147A=) c.2444+147A= (n.2444+147A=) c.2606+147A= (n.2606+147A=) c.2687+147A= (n.2687+147A=) c.*706+147A= (n.*706+147A=) c.2927+147A= (n.2927+147A=) c.2501+147A= (n.2501+147A=) c.2525+147A= (n.2525+147A=) n.2656+147A= c.2921+147A= (n.2921+147A=) n.3101+147A= n.3081+147A= c.2573+147A= (n.2573+147A=) n.3066+147A= | |
20 | g.3228112_3228113insCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCG | CA2651690917 | SLC4A11 | c.2558+146_2558+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2558+146_2558+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2489+146_2489+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2489+146_2489+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2357+146_2357+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2357+146_2357+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2444+146_2444+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2444+146_2444+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2606+146_2606+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2606+146_2606+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2687+146_2687+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2687+146_2687+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.*706+146_*706+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.*706+146_*706+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2927+146_2927+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2927+146_2927+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2501+146_2501+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2501+146_2501+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) c.2525+146_2525+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2525+146_2525+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) n.2656+146_2656+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG c.2921+146_2921+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2921+146_2921+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) n.3101+146_3101+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG n.3081+146_3081+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG c.2573+146_2573+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG (n.2573+146_2573+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG) n.3066+146_3066+147insCGGGGTGGAGAGTGGGCGGGCTGGGGAGGCTGGCGGGCAGG | gnomAD v4 |
20 | g.3228112_3228113insCCTGCCCGCCAGCCTCCCCAGCCCCCCCCCACTCCACCCCA | CA2815075145 | SLC4A11 | c.2558+146_2558+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2558+146_2558+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2489+146_2489+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2489+146_2489+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2357+146_2357+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2357+146_2357+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2444+146_2444+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2444+146_2444+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2606+146_2606+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2606+146_2606+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2687+146_2687+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2687+146_2687+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.*706+146_*706+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.*706+146_*706+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2927+146_2927+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2927+146_2927+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2501+146_2501+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2501+146_2501+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) c.2525+146_2525+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2525+146_2525+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) n.2656+146_2656+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG c.2921+146_2921+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2921+146_2921+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) n.3101+146_3101+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG n.3081+146_3081+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG c.2573+146_2573+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG (n.2573+146_2573+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG) n.3066+146_3066+147insTGGGGTGGAGTGGGGGGGGGCTGGGGAGGCTGGCGGGCAGG | |
20 | g.3228113A>C | CA2651690918 | SLC4A11 | c.2558+146T>G (n.2558+146T>G) c.2489+146T>G (n.2489+146T>G) c.2357+146T>G (n.2357+146T>G) c.2444+146T>G (n.2444+146T>G) c.2606+146T>G (n.2606+146T>G) c.2687+146T>G (n.2687+146T>G) c.*706+146T>G (n.*706+146T>G) c.2927+146T>G (n.2927+146T>G) c.2501+146T>G (n.2501+146T>G) c.2525+146T>G (n.2525+146T>G) n.2656+146T>G c.2921+146T>G (n.2921+146T>G) n.3101+146T>G n.3081+146T>G c.2573+146T>G (n.2573+146T>G) n.3066+146T>G | gnomAD v4 |
20 | g.3228113A>G | CA2516197082 | SLC4A11 | c.2558+146T>C (n.2558+146T>C) c.2489+146T>C (n.2489+146T>C) c.2357+146T>C (n.2357+146T>C) c.2444+146T>C (n.2444+146T>C) c.2606+146T>C (n.2606+146T>C) c.2687+146T>C (n.2687+146T>C) c.*706+146T>C (n.*706+146T>C) c.2927+146T>C (n.2927+146T>C) c.2501+146T>C (n.2501+146T>C) c.2525+146T>C (n.2525+146T>C) n.2656+146T>C c.2921+146T>C (n.2921+146T>C) n.3101+146T>C n.3081+146T>C c.2573+146T>C (n.2573+146T>C) n.3066+146T>C | gnomAD v4 |
20 | g.3228113A>T | CA2651690919 | SLC4A11 | c.2558+146T>A (n.2558+146T>A) c.2489+146T>A (n.2489+146T>A) c.2357+146T>A (n.2357+146T>A) c.2444+146T>A (n.2444+146T>A) c.2606+146T>A (n.2606+146T>A) c.2687+146T>A (n.2687+146T>A) c.*706+146T>A (n.*706+146T>A) c.2927+146T>A (n.2927+146T>A) c.2501+146T>A (n.2501+146T>A) c.2525+146T>A (n.2525+146T>A) n.2656+146T>A c.2921+146T>A (n.2921+146T>A) n.3101+146T>A n.3081+146T>A c.2573+146T>A (n.2573+146T>A) n.3066+146T>A | gnomAD v4 |
20 | g.3228113dup | CA743608834 | SLC4A11 | c.2558+146dup (n.2558+146dup) c.2489+146dup (n.2489+146dup) c.2357+146dup (n.2357+146dup) c.2444+146dup (n.2444+146dup) c.2606+146dup (n.2606+146dup) c.2687+146dup (n.2687+146dup) c.*706+146dup (n.*706+146dup) c.2927+146dup (n.2927+146dup) c.2501+146dup (n.2501+146dup) c.2525+146dup (n.2525+146dup) n.2656+146dup c.2921+146dup (n.2921+146dup) n.3101+146dup n.3081+146dup c.2573+146dup (n.2573+146dup) n.3066+146dup | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228114G>A | CA2651690921 | SLC4A11 | c.2558+145C>T (n.2558+145C>T) c.2489+145C>T (n.2489+145C>T) c.2357+145C>T (n.2357+145C>T) c.2444+145C>T (n.2444+145C>T) c.2606+145C>T (n.2606+145C>T) c.2687+145C>T (n.2687+145C>T) c.*706+145C>T (n.*706+145C>T) c.2927+145C>T (n.2927+145C>T) c.2501+145C>T (n.2501+145C>T) c.2525+145C>T (n.2525+145C>T) n.2656+145C>T c.2921+145C>T (n.2921+145C>T) n.3101+145C>T n.3081+145C>T c.2573+145C>T (n.2573+145C>T) n.3066+145C>T | gnomAD v4 |
20 | g.3228114G>C | CA2651690920 | SLC4A11 | c.2558+145C>G (n.2558+145C>G) c.2489+145C>G (n.2489+145C>G) c.2357+145C>G (n.2357+145C>G) c.2444+145C>G (n.2444+145C>G) c.2606+145C>G (n.2606+145C>G) c.2687+145C>G (n.2687+145C>G) c.*706+145C>G (n.*706+145C>G) c.2927+145C>G (n.2927+145C>G) c.2501+145C>G (n.2501+145C>G) c.2525+145C>G (n.2525+145C>G) n.2656+145C>G c.2921+145C>G (n.2921+145C>G) n.3101+145C>G n.3081+145C>G c.2573+145C>G (n.2573+145C>G) n.3066+145C>G | gnomAD v4 |
20 | g.3228114G= | CA2346474816 | SLC4A11 | c.2558+145C= (n.2558+145C=) c.2489+145C= (n.2489+145C=) c.2357+145C= (n.2357+145C=) c.2444+145C= (n.2444+145C=) c.2606+145C= (n.2606+145C=) c.2687+145C= (n.2687+145C=) c.*706+145C= (n.*706+145C=) c.2927+145C= (n.2927+145C=) c.2501+145C= (n.2501+145C=) c.2525+145C= (n.2525+145C=) n.2656+145C= c.2921+145C= (n.2921+145C=) n.3101+145C= n.3081+145C= c.2573+145C= (n.2573+145C=) n.3066+145C= | |
20 | g.3228114G>T | CA2346474817 | SLC4A11 | c.2558+145C>A (n.2558+145C>A) c.2489+145C>A (n.2489+145C>A) c.2357+145C>A (n.2357+145C>A) c.2444+145C>A (n.2444+145C>A) c.2606+145C>A (n.2606+145C>A) c.2687+145C>A (n.2687+145C>A) c.*706+145C>A (n.*706+145C>A) c.2927+145C>A (n.2927+145C>A) c.2501+145C>A (n.2501+145C>A) c.2525+145C>A (n.2525+145C>A) n.2656+145C>A c.2921+145C>A (n.2921+145C>A) n.3101+145C>A n.3081+145C>A c.2573+145C>A (n.2573+145C>A) n.3066+145C>A | dbSNP gnomAD v4 |
20 | g.3228115G>A | CA1014849463 | SLC4A11 | c.2558+144C>T (n.2558+144C>T) c.2489+144C>T (n.2489+144C>T) c.2357+144C>T (n.2357+144C>T) c.2444+144C>T (n.2444+144C>T) c.2606+144C>T (n.2606+144C>T) c.2687+144C>T (n.2687+144C>T) c.*706+144C>T (n.*706+144C>T) c.2927+144C>T (n.2927+144C>T) c.2501+144C>T (n.2501+144C>T) c.2525+144C>T (n.2525+144C>T) n.2656+144C>T c.2921+144C>T (n.2921+144C>T) n.3101+144C>T n.3081+144C>T c.2573+144C>T (n.2573+144C>T) n.3066+144C>T | gnomAD v3 gnomAD v4 |
20 | g.3228115G>T | CA2651690922 | SLC4A11 | c.2558+144C>A (n.2558+144C>A) c.2489+144C>A (n.2489+144C>A) c.2357+144C>A (n.2357+144C>A) c.2444+144C>A (n.2444+144C>A) c.2606+144C>A (n.2606+144C>A) c.2687+144C>A (n.2687+144C>A) c.*706+144C>A (n.*706+144C>A) c.2927+144C>A (n.2927+144C>A) c.2501+144C>A (n.2501+144C>A) c.2525+144C>A (n.2525+144C>A) n.2656+144C>A c.2921+144C>A (n.2921+144C>A) n.3101+144C>A n.3081+144C>A c.2573+144C>A (n.2573+144C>A) n.3066+144C>A | gnomAD v4 |
20 | g.3228116C>A | CA310984540 | SLC4A11 | c.2558+143G>T (n.2558+143G>T) c.2489+143G>T (n.2489+143G>T) c.2357+143G>T (n.2357+143G>T) c.2444+143G>T (n.2444+143G>T) c.2606+143G>T (n.2606+143G>T) c.2687+143G>T (n.2687+143G>T) c.*706+143G>T (n.*706+143G>T) c.2927+143G>T (n.2927+143G>T) c.2501+143G>T (n.2501+143G>T) c.2525+143G>T (n.2525+143G>T) n.2656+143G>T c.2921+143G>T (n.2921+143G>T) n.3101+143G>T n.3081+143G>T c.2573+143G>T (n.2573+143G>T) n.3066+143G>T | dbSNP gnomAD v4 |
20 | g.3228116C= | CA2346474818 | SLC4A11 | c.2558+143G= (n.2558+143G=) c.2489+143G= (n.2489+143G=) c.2357+143G= (n.2357+143G=) c.2444+143G= (n.2444+143G=) c.2606+143G= (n.2606+143G=) c.2687+143G= (n.2687+143G=) c.*706+143G= (n.*706+143G=) c.2927+143G= (n.2927+143G=) c.2501+143G= (n.2501+143G=) c.2525+143G= (n.2525+143G=) n.2656+143G= c.2921+143G= (n.2921+143G=) n.3101+143G= n.3081+143G= c.2573+143G= (n.2573+143G=) n.3066+143G= | |
20 | g.3228116C>T | CA2346474819 | SLC4A11 | c.2558+143G>A (n.2558+143G>A) c.2489+143G>A (n.2489+143G>A) c.2357+143G>A (n.2357+143G>A) c.2444+143G>A (n.2444+143G>A) c.2606+143G>A (n.2606+143G>A) c.2687+143G>A (n.2687+143G>A) c.*706+143G>A (n.*706+143G>A) c.2927+143G>A (n.2927+143G>A) c.2501+143G>A (n.2501+143G>A) c.2525+143G>A (n.2525+143G>A) n.2656+143G>A c.2921+143G>A (n.2921+143G>A) n.3101+143G>A n.3081+143G>A c.2573+143G>A (n.2573+143G>A) n.3066+143G>A | dbSNP gnomAD v4 |
20 | g.3228117_3228223del | CA1014849464 | SLC4A11 | c.2558+37_2558+143del (n.2558+37_2558+143del) c.2489+37_2489+143del (n.2489+37_2489+143del) c.2357+37_2357+143del (n.2357+37_2357+143del) c.2444+37_2444+143del (n.2444+37_2444+143del) c.2606+37_2606+143del (n.2606+37_2606+143del) c.2687+37_2687+143del (n.2687+37_2687+143del) c.*706+37_*706+143del (n.*706+37_*706+143del) c.2927+37_2927+143del (n.2927+37_2927+143del) c.2501+37_2501+143del (n.2501+37_2501+143del) c.2525+37_2525+143del (n.2525+37_2525+143del) n.2656+37_2656+143del c.2921+37_2921+143del (n.2921+37_2921+143del) n.3101+37_3101+143del n.3081+37_3081+143del c.2573+37_2573+143del (n.2573+37_2573+143del) n.3066+37_3066+143del | gnomAD v3 gnomAD v4 |
20 | g.3228117A= | CA2346474820 | SLC4A11 | c.2558+142T= (n.2558+142T=) c.2489+142T= (n.2489+142T=) c.2357+142T= (n.2357+142T=) c.2444+142T= (n.2444+142T=) c.2606+142T= (n.2606+142T=) c.2687+142T= (n.2687+142T=) c.*706+142T= (n.*706+142T=) c.2927+142T= (n.2927+142T=) c.2501+142T= (n.2501+142T=) c.2525+142T= (n.2525+142T=) n.2656+142T= c.2921+142T= (n.2921+142T=) n.3101+142T= n.3081+142T= c.2573+142T= (n.2573+142T=) n.3066+142T= | |
20 | g.3228117A>C | CA2651690923 | SLC4A11 | c.2558+142T>G (n.2558+142T>G) c.2489+142T>G (n.2489+142T>G) c.2357+142T>G (n.2357+142T>G) c.2444+142T>G (n.2444+142T>G) c.2606+142T>G (n.2606+142T>G) c.2687+142T>G (n.2687+142T>G) c.*706+142T>G (n.*706+142T>G) c.2927+142T>G (n.2927+142T>G) c.2501+142T>G (n.2501+142T>G) c.2525+142T>G (n.2525+142T>G) n.2656+142T>G c.2921+142T>G (n.2921+142T>G) n.3101+142T>G n.3081+142T>G c.2573+142T>G (n.2573+142T>G) n.3066+142T>G | gnomAD v4 |
20 | g.3228117A>G | CA310984544 | SLC4A11 | c.2558+142T>C (n.2558+142T>C) c.2489+142T>C (n.2489+142T>C) c.2357+142T>C (n.2357+142T>C) c.2444+142T>C (n.2444+142T>C) c.2606+142T>C (n.2606+142T>C) c.2687+142T>C (n.2687+142T>C) c.*706+142T>C (n.*706+142T>C) c.2927+142T>C (n.2927+142T>C) c.2501+142T>C (n.2501+142T>C) c.2525+142T>C (n.2525+142T>C) n.2656+142T>C c.2921+142T>C (n.2921+142T>C) n.3101+142T>C n.3081+142T>C c.2573+142T>C (n.2573+142T>C) n.3066+142T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228117A>T | CA634173542 | SLC4A11 | c.2558+142T>A (n.2558+142T>A) c.2489+142T>A (n.2489+142T>A) c.2357+142T>A (n.2357+142T>A) c.2444+142T>A (n.2444+142T>A) c.2606+142T>A (n.2606+142T>A) c.2687+142T>A (n.2687+142T>A) c.*706+142T>A (n.*706+142T>A) c.2927+142T>A (n.2927+142T>A) c.2501+142T>A (n.2501+142T>A) c.2525+142T>A (n.2525+142T>A) n.2656+142T>A c.2921+142T>A (n.2921+142T>A) n.3101+142T>A n.3081+142T>A c.2573+142T>A (n.2573+142T>A) n.3066+142T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228118G>A | CA2651690925 | SLC4A11 | c.2558+141C>T (n.2558+141C>T) c.2489+141C>T (n.2489+141C>T) c.2357+141C>T (n.2357+141C>T) c.2444+141C>T (n.2444+141C>T) c.2606+141C>T (n.2606+141C>T) c.2687+141C>T (n.2687+141C>T) c.*706+141C>T (n.*706+141C>T) c.2927+141C>T (n.2927+141C>T) c.2501+141C>T (n.2501+141C>T) c.2525+141C>T (n.2525+141C>T) n.2656+141C>T c.2921+141C>T (n.2921+141C>T) n.3101+141C>T n.3081+141C>T c.2573+141C>T (n.2573+141C>T) n.3066+141C>T | gnomAD v4 |
20 | g.3228118G= | CA2346474821 | SLC4A11 | c.2558+141C= (n.2558+141C=) c.2489+141C= (n.2489+141C=) c.2357+141C= (n.2357+141C=) c.2444+141C= (n.2444+141C=) c.2606+141C= (n.2606+141C=) c.2687+141C= (n.2687+141C=) c.*706+141C= (n.*706+141C=) c.2927+141C= (n.2927+141C=) c.2501+141C= (n.2501+141C=) c.2525+141C= (n.2525+141C=) n.2656+141C= c.2921+141C= (n.2921+141C=) n.3101+141C= n.3081+141C= c.2573+141C= (n.2573+141C=) n.3066+141C= | |
20 | g.3228118G>T | CA1014849466 | SLC4A11 | c.2558+141C>A (n.2558+141C>A) c.2489+141C>A (n.2489+141C>A) c.2357+141C>A (n.2357+141C>A) c.2444+141C>A (n.2444+141C>A) c.2606+141C>A (n.2606+141C>A) c.2687+141C>A (n.2687+141C>A) c.*706+141C>A (n.*706+141C>A) c.2927+141C>A (n.2927+141C>A) c.2501+141C>A (n.2501+141C>A) c.2525+141C>A (n.2525+141C>A) n.2656+141C>A c.2921+141C>A (n.2921+141C>A) n.3101+141C>A n.3081+141C>A c.2573+141C>A (n.2573+141C>A) n.3066+141C>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228131_3228184dup | CA2651690924 | SLC4A11 | c.2558+88_2558+141dup (n.2558+88_2558+141dup) c.2489+88_2489+141dup (n.2489+88_2489+141dup) c.2357+88_2357+141dup (n.2357+88_2357+141dup) c.2444+88_2444+141dup (n.2444+88_2444+141dup) c.2606+88_2606+141dup (n.2606+88_2606+141dup) c.2687+88_2687+141dup (n.2687+88_2687+141dup) c.*706+88_*706+141dup (n.*706+88_*706+141dup) c.2927+88_2927+141dup (n.2927+88_2927+141dup) c.2501+88_2501+141dup (n.2501+88_2501+141dup) c.2525+88_2525+141dup (n.2525+88_2525+141dup) n.2656+88_2656+141dup c.2921+88_2921+141dup (n.2921+88_2921+141dup) n.3101+88_3101+141dup n.3081+88_3081+141dup c.2573+88_2573+141dup (n.2573+88_2573+141dup) n.3066+88_3066+141dup | gnomAD v4 |
20 | g.3228131_3228184del | CA1014849465 | SLC4A11 | c.2558+88_2558+141del (n.2558+88_2558+141del) c.2489+88_2489+141del (n.2489+88_2489+141del) c.2357+88_2357+141del (n.2357+88_2357+141del) c.2444+88_2444+141del (n.2444+88_2444+141del) c.2606+88_2606+141del (n.2606+88_2606+141del) c.2687+88_2687+141del (n.2687+88_2687+141del) c.*706+88_*706+141del (n.*706+88_*706+141del) c.2927+88_2927+141del (n.2927+88_2927+141del) c.2501+88_2501+141del (n.2501+88_2501+141del) c.2525+88_2525+141del (n.2525+88_2525+141del) n.2656+88_2656+141del c.2921+88_2921+141del (n.2921+88_2921+141del) n.3101+88_3101+141del n.3081+88_3081+141del c.2573+88_2573+141del (n.2573+88_2573+141del) n.3066+88_3066+141del | gnomAD v3 gnomAD v4 |
20 | g.3228119G>A | CA2651690926 | SLC4A11 | c.2558+140C>T (n.2558+140C>T) c.2489+140C>T (n.2489+140C>T) c.2357+140C>T (n.2357+140C>T) c.2444+140C>T (n.2444+140C>T) c.2606+140C>T (n.2606+140C>T) c.2687+140C>T (n.2687+140C>T) c.*706+140C>T (n.*706+140C>T) c.2927+140C>T (n.2927+140C>T) c.2501+140C>T (n.2501+140C>T) c.2525+140C>T (n.2525+140C>T) n.2656+140C>T c.2921+140C>T (n.2921+140C>T) n.3101+140C>T n.3081+140C>T c.2573+140C>T (n.2573+140C>T) n.3066+140C>T | gnomAD v4 |
20 | g.3228119G>C | CA2651690927 | SLC4A11 | c.2558+140C>G (n.2558+140C>G) c.2489+140C>G (n.2489+140C>G) c.2357+140C>G (n.2357+140C>G) c.2444+140C>G (n.2444+140C>G) c.2606+140C>G (n.2606+140C>G) c.2687+140C>G (n.2687+140C>G) c.*706+140C>G (n.*706+140C>G) c.2927+140C>G (n.2927+140C>G) c.2501+140C>G (n.2501+140C>G) c.2525+140C>G (n.2525+140C>G) n.2656+140C>G c.2921+140C>G (n.2921+140C>G) n.3101+140C>G n.3081+140C>G c.2573+140C>G (n.2573+140C>G) n.3066+140C>G | gnomAD v4 |
20 | g.3228119_3228122delinsGACC | CA2346474822 | SLC4A11 | c.2558+137_2558+140delinsGGTC (n.2558+137_2558+140delinsGGTC) c.2489+137_2489+140delinsGGTC (n.2489+137_2489+140delinsGGTC) c.2357+137_2357+140delinsGGTC (n.2357+137_2357+140delinsGGTC) c.2444+137_2444+140delinsGGTC (n.2444+137_2444+140delinsGGTC) c.2606+137_2606+140delinsGGTC (n.2606+137_2606+140delinsGGTC) c.2687+137_2687+140delinsGGTC (n.2687+137_2687+140delinsGGTC) c.*706+137_*706+140delinsGGTC (n.*706+137_*706+140delinsGGTC) c.2927+137_2927+140delinsGGTC (n.2927+137_2927+140delinsGGTC) c.2501+137_2501+140delinsGGTC (n.2501+137_2501+140delinsGGTC) c.2525+137_2525+140delinsGGTC (n.2525+137_2525+140delinsGGTC) n.2656+137_2656+140delinsGGTC c.2921+137_2921+140delinsGGTC (n.2921+137_2921+140delinsGGTC) n.3101+137_3101+140delinsGGTC n.3081+137_3081+140delinsGGTC c.2573+137_2573+140delinsGGTC (n.2573+137_2573+140delinsGGTC) n.3066+137_3066+140delinsGGTC | |
20 | g.3228120A= | CA2346474823 | SLC4A11 | c.2558+139T= (n.2558+139T=) c.2489+139T= (n.2489+139T=) c.2357+139T= (n.2357+139T=) c.2444+139T= (n.2444+139T=) c.2606+139T= (n.2606+139T=) c.2687+139T= (n.2687+139T=) c.*706+139T= (n.*706+139T=) c.2927+139T= (n.2927+139T=) c.2501+139T= (n.2501+139T=) c.2525+139T= (n.2525+139T=) n.2656+139T= c.2921+139T= (n.2921+139T=) n.3101+139T= n.3081+139T= c.2573+139T= (n.2573+139T=) n.3066+139T= | |
20 | g.3228120A>C | CA1014849467 | SLC4A11 | c.2558+139T>G (n.2558+139T>G) c.2489+139T>G (n.2489+139T>G) c.2357+139T>G (n.2357+139T>G) c.2444+139T>G (n.2444+139T>G) c.2606+139T>G (n.2606+139T>G) c.2687+139T>G (n.2687+139T>G) c.*706+139T>G (n.*706+139T>G) c.2927+139T>G (n.2927+139T>G) c.2501+139T>G (n.2501+139T>G) c.2525+139T>G (n.2525+139T>G) n.2656+139T>G c.2921+139T>G (n.2921+139T>G) n.3101+139T>G n.3081+139T>G c.2573+139T>G (n.2573+139T>G) n.3066+139T>G | gnomAD v3 gnomAD v4 |
20 | g.3228120A>G | CA743608838 | SLC4A11 | c.2558+139T>C (n.2558+139T>C) c.2489+139T>C (n.2489+139T>C) c.2357+139T>C (n.2357+139T>C) c.2444+139T>C (n.2444+139T>C) c.2606+139T>C (n.2606+139T>C) c.2687+139T>C (n.2687+139T>C) c.*706+139T>C (n.*706+139T>C) c.2927+139T>C (n.2927+139T>C) c.2501+139T>C (n.2501+139T>C) c.2525+139T>C (n.2525+139T>C) n.2656+139T>C c.2921+139T>C (n.2921+139T>C) n.3101+139T>C n.3081+139T>C c.2573+139T>C (n.2573+139T>C) n.3066+139T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228120A>T | CA2651690928 | SLC4A11 | c.2558+139T>A (n.2558+139T>A) c.2489+139T>A (n.2489+139T>A) c.2357+139T>A (n.2357+139T>A) c.2444+139T>A (n.2444+139T>A) c.2606+139T>A (n.2606+139T>A) c.2687+139T>A (n.2687+139T>A) c.*706+139T>A (n.*706+139T>A) c.2927+139T>A (n.2927+139T>A) c.2501+139T>A (n.2501+139T>A) c.2525+139T>A (n.2525+139T>A) n.2656+139T>A c.2921+139T>A (n.2921+139T>A) n.3101+139T>A n.3081+139T>A c.2573+139T>A (n.2573+139T>A) n.3066+139T>A | gnomAD v4 |
20 | g.3228120_3228122del | CA634173543 | SLC4A11 | c.2558+137_2558+139del (n.2558+137_2558+139del) c.2489+137_2489+139del (n.2489+137_2489+139del) c.2357+137_2357+139del (n.2357+137_2357+139del) c.2444+137_2444+139del (n.2444+137_2444+139del) c.2606+137_2606+139del (n.2606+137_2606+139del) c.2687+137_2687+139del (n.2687+137_2687+139del) c.*706+137_*706+139del (n.*706+137_*706+139del) c.2927+137_2927+139del (n.2927+137_2927+139del) c.2501+137_2501+139del (n.2501+137_2501+139del) c.2525+137_2525+139del (n.2525+137_2525+139del) n.2656+137_2656+139del c.2921+137_2921+139del (n.2921+137_2921+139del) n.3101+137_3101+139del n.3081+137_3081+139del c.2573+137_2573+139del (n.2573+137_2573+139del) n.3066+137_3066+139del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228120_3228121insGGAG | CA2566371563 | SLC4A11 | c.2558+138_2558+139insCTCC (n.2558+138_2558+139insCTCC) c.2489+138_2489+139insCTCC (n.2489+138_2489+139insCTCC) c.2357+138_2357+139insCTCC (n.2357+138_2357+139insCTCC) c.2444+138_2444+139insCTCC (n.2444+138_2444+139insCTCC) c.2606+138_2606+139insCTCC (n.2606+138_2606+139insCTCC) c.2687+138_2687+139insCTCC (n.2687+138_2687+139insCTCC) c.*706+138_*706+139insCTCC (n.*706+138_*706+139insCTCC) c.2927+138_2927+139insCTCC (n.2927+138_2927+139insCTCC) c.2501+138_2501+139insCTCC (n.2501+138_2501+139insCTCC) c.2525+138_2525+139insCTCC (n.2525+138_2525+139insCTCC) n.2656+138_2656+139insCTCC c.2921+138_2921+139insCTCC (n.2921+138_2921+139insCTCC) n.3101+138_3101+139insCTCC n.3081+138_3081+139insCTCC c.2573+138_2573+139insCTCC (n.2573+138_2573+139insCTCC) n.3066+138_3066+139insCTCC | |
20 | g.3228121C>A | CA2651690929 | SLC4A11 | c.2558+138G>T (n.2558+138G>T) c.2489+138G>T (n.2489+138G>T) c.2357+138G>T (n.2357+138G>T) c.2444+138G>T (n.2444+138G>T) c.2606+138G>T (n.2606+138G>T) c.2687+138G>T (n.2687+138G>T) c.*706+138G>T (n.*706+138G>T) c.2927+138G>T (n.2927+138G>T) c.2501+138G>T (n.2501+138G>T) c.2525+138G>T (n.2525+138G>T) n.2656+138G>T c.2921+138G>T (n.2921+138G>T) n.3101+138G>T n.3081+138G>T c.2573+138G>T (n.2573+138G>T) n.3066+138G>T | gnomAD v4 |
20 | g.3228121C>T | CA1014849468 | SLC4A11 | c.2558+138G>A (n.2558+138G>A) c.2489+138G>A (n.2489+138G>A) c.2357+138G>A (n.2357+138G>A) c.2444+138G>A (n.2444+138G>A) c.2606+138G>A (n.2606+138G>A) c.2687+138G>A (n.2687+138G>A) c.*706+138G>A (n.*706+138G>A) c.2927+138G>A (n.2927+138G>A) c.2501+138G>A (n.2501+138G>A) c.2525+138G>A (n.2525+138G>A) n.2656+138G>A c.2921+138G>A (n.2921+138G>A) n.3101+138G>A n.3081+138G>A c.2573+138G>A (n.2573+138G>A) n.3066+138G>A | gnomAD v3 gnomAD v4 |
20 | g.3228122C>A | CA2651690930 | SLC4A11 | c.2558+137G>T (n.2558+137G>T) c.2489+137G>T (n.2489+137G>T) c.2357+137G>T (n.2357+137G>T) c.2444+137G>T (n.2444+137G>T) c.2606+137G>T (n.2606+137G>T) c.2687+137G>T (n.2687+137G>T) c.*706+137G>T (n.*706+137G>T) c.2927+137G>T (n.2927+137G>T) c.2501+137G>T (n.2501+137G>T) c.2525+137G>T (n.2525+137G>T) n.2656+137G>T c.2921+137G>T (n.2921+137G>T) n.3101+137G>T n.3081+137G>T c.2573+137G>T (n.2573+137G>T) n.3066+137G>T | gnomAD v4 |
20 | g.3228122C= | CA2346474824 | SLC4A11 | c.2558+137G= (n.2558+137G=) c.2489+137G= (n.2489+137G=) c.2357+137G= (n.2357+137G=) c.2444+137G= (n.2444+137G=) c.2606+137G= (n.2606+137G=) c.2687+137G= (n.2687+137G=) c.*706+137G= (n.*706+137G=) c.2927+137G= (n.2927+137G=) c.2501+137G= (n.2501+137G=) c.2525+137G= (n.2525+137G=) n.2656+137G= c.2921+137G= (n.2921+137G=) n.3101+137G= n.3081+137G= c.2573+137G= (n.2573+137G=) n.3066+137G= | |
20 | g.3228122C>T | CA743608840 | SLC4A11 | c.2558+137G>A (n.2558+137G>A) c.2489+137G>A (n.2489+137G>A) c.2357+137G>A (n.2357+137G>A) c.2444+137G>A (n.2444+137G>A) c.2606+137G>A (n.2606+137G>A) c.2687+137G>A (n.2687+137G>A) c.*706+137G>A (n.*706+137G>A) c.2927+137G>A (n.2927+137G>A) c.2501+137G>A (n.2501+137G>A) c.2525+137G>A (n.2525+137G>A) n.2656+137G>A c.2921+137G>A (n.2921+137G>A) n.3101+137G>A n.3081+137G>A c.2573+137G>A (n.2573+137G>A) n.3066+137G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228123C= | CA2346474825 | SLC4A11 | c.2558+136G= (n.2558+136G=) c.2489+136G= (n.2489+136G=) c.2357+136G= (n.2357+136G=) c.2444+136G= (n.2444+136G=) c.2606+136G= (n.2606+136G=) c.2687+136G= (n.2687+136G=) c.*706+136G= (n.*706+136G=) c.2927+136G= (n.2927+136G=) c.2501+136G= (n.2501+136G=) c.2525+136G= (n.2525+136G=) n.2656+136G= c.2921+136G= (n.2921+136G=) n.3101+136G= n.3081+136G= c.2573+136G= (n.2573+136G=) n.3066+136G= | |
20 | g.3228123C>G | CA634173544 | SLC4A11 | c.2558+136G>C (n.2558+136G>C) c.2489+136G>C (n.2489+136G>C) c.2357+136G>C (n.2357+136G>C) c.2444+136G>C (n.2444+136G>C) c.2606+136G>C (n.2606+136G>C) c.2687+136G>C (n.2687+136G>C) c.*706+136G>C (n.*706+136G>C) c.2927+136G>C (n.2927+136G>C) c.2501+136G>C (n.2501+136G>C) c.2525+136G>C (n.2525+136G>C) n.2656+136G>C c.2921+136G>C (n.2921+136G>C) n.3101+136G>C n.3081+136G>C c.2573+136G>C (n.2573+136G>C) n.3066+136G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228123C>T | CA2346474826 | SLC4A11 | c.2558+136G>A (n.2558+136G>A) c.2489+136G>A (n.2489+136G>A) c.2357+136G>A (n.2357+136G>A) c.2444+136G>A (n.2444+136G>A) c.2606+136G>A (n.2606+136G>A) c.2687+136G>A (n.2687+136G>A) c.*706+136G>A (n.*706+136G>A) c.2927+136G>A (n.2927+136G>A) c.2501+136G>A (n.2501+136G>A) c.2525+136G>A (n.2525+136G>A) n.2656+136G>A c.2921+136G>A (n.2921+136G>A) n.3101+136G>A n.3081+136G>A c.2573+136G>A (n.2573+136G>A) n.3066+136G>A | dbSNP gnomAD v4 |
20 | g.3228124C>A | CA2651690931 | SLC4A11 | c.2558+135G>T (n.2558+135G>T) c.2489+135G>T (n.2489+135G>T) c.2357+135G>T (n.2357+135G>T) c.2444+135G>T (n.2444+135G>T) c.2606+135G>T (n.2606+135G>T) c.2687+135G>T (n.2687+135G>T) c.*706+135G>T (n.*706+135G>T) c.2927+135G>T (n.2927+135G>T) c.2501+135G>T (n.2501+135G>T) c.2525+135G>T (n.2525+135G>T) n.2656+135G>T c.2921+135G>T (n.2921+135G>T) n.3101+135G>T n.3081+135G>T c.2573+135G>T (n.2573+135G>T) n.3066+135G>T | gnomAD v4 |
20 | g.3228125T>A | CA2651690932 | SLC4A11 | c.2558+134A>T (n.2558+134A>T) c.2489+134A>T (n.2489+134A>T) c.2357+134A>T (n.2357+134A>T) c.2444+134A>T (n.2444+134A>T) c.2606+134A>T (n.2606+134A>T) c.2687+134A>T (n.2687+134A>T) c.*706+134A>T (n.*706+134A>T) c.2927+134A>T (n.2927+134A>T) c.2501+134A>T (n.2501+134A>T) c.2525+134A>T (n.2525+134A>T) n.2656+134A>T c.2921+134A>T (n.2921+134A>T) n.3101+134A>T n.3081+134A>T c.2573+134A>T (n.2573+134A>T) n.3066+134A>T | gnomAD v4 |
20 | g.3228125T>C | CA1014849469 | SLC4A11 | c.2558+134A>G (n.2558+134A>G) c.2489+134A>G (n.2489+134A>G) c.2357+134A>G (n.2357+134A>G) c.2444+134A>G (n.2444+134A>G) c.2606+134A>G (n.2606+134A>G) c.2687+134A>G (n.2687+134A>G) c.*706+134A>G (n.*706+134A>G) c.2927+134A>G (n.2927+134A>G) c.2501+134A>G (n.2501+134A>G) c.2525+134A>G (n.2525+134A>G) n.2656+134A>G c.2921+134A>G (n.2921+134A>G) n.3101+134A>G n.3081+134A>G c.2573+134A>G (n.2573+134A>G) n.3066+134A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228125T>G | CA2651690933 | SLC4A11 | c.2558+134A>C (n.2558+134A>C) c.2489+134A>C (n.2489+134A>C) c.2357+134A>C (n.2357+134A>C) c.2444+134A>C (n.2444+134A>C) c.2606+134A>C (n.2606+134A>C) c.2687+134A>C (n.2687+134A>C) c.*706+134A>C (n.*706+134A>C) c.2927+134A>C (n.2927+134A>C) c.2501+134A>C (n.2501+134A>C) c.2525+134A>C (n.2525+134A>C) n.2656+134A>C c.2921+134A>C (n.2921+134A>C) n.3101+134A>C n.3081+134A>C c.2573+134A>C (n.2573+134A>C) n.3066+134A>C | gnomAD v4 |
20 | g.3228125T= | CA2346474827 | SLC4A11 | c.2558+134A= (n.2558+134A=) c.2489+134A= (n.2489+134A=) c.2357+134A= (n.2357+134A=) c.2444+134A= (n.2444+134A=) c.2606+134A= (n.2606+134A=) c.2687+134A= (n.2687+134A=) c.*706+134A= (n.*706+134A=) c.2927+134A= (n.2927+134A=) c.2501+134A= (n.2501+134A=) c.2525+134A= (n.2525+134A=) n.2656+134A= c.2921+134A= (n.2921+134A=) n.3101+134A= n.3081+134A= c.2573+134A= (n.2573+134A=) n.3066+134A= | |
20 | g.3228126C>A | CA2651690934 | SLC4A11 | c.2558+133G>T (n.2558+133G>T) c.2489+133G>T (n.2489+133G>T) c.2357+133G>T (n.2357+133G>T) c.2444+133G>T (n.2444+133G>T) c.2606+133G>T (n.2606+133G>T) c.2687+133G>T (n.2687+133G>T) c.*706+133G>T (n.*706+133G>T) c.2927+133G>T (n.2927+133G>T) c.2501+133G>T (n.2501+133G>T) c.2525+133G>T (n.2525+133G>T) n.2656+133G>T c.2921+133G>T (n.2921+133G>T) n.3101+133G>T n.3081+133G>T c.2573+133G>T (n.2573+133G>T) n.3066+133G>T | gnomAD v4 |
20 | g.3228126C>T | CA2651690935 | SLC4A11 | c.2558+133G>A (n.2558+133G>A) c.2489+133G>A (n.2489+133G>A) c.2357+133G>A (n.2357+133G>A) c.2444+133G>A (n.2444+133G>A) c.2606+133G>A (n.2606+133G>A) c.2687+133G>A (n.2687+133G>A) c.*706+133G>A (n.*706+133G>A) c.2927+133G>A (n.2927+133G>A) c.2501+133G>A (n.2501+133G>A) c.2525+133G>A (n.2525+133G>A) n.2656+133G>A c.2921+133G>A (n.2921+133G>A) n.3101+133G>A n.3081+133G>A c.2573+133G>A (n.2573+133G>A) n.3066+133G>A | gnomAD v4 |
20 | g.3228127C>A | CA2505974571 | SLC4A11 | c.2558+132G>T (n.2558+132G>T) c.2489+132G>T (n.2489+132G>T) c.2357+132G>T (n.2357+132G>T) c.2444+132G>T (n.2444+132G>T) c.2606+132G>T (n.2606+132G>T) c.2687+132G>T (n.2687+132G>T) c.*706+132G>T (n.*706+132G>T) c.2927+132G>T (n.2927+132G>T) c.2501+132G>T (n.2501+132G>T) c.2525+132G>T (n.2525+132G>T) n.2656+132G>T c.2921+132G>T (n.2921+132G>T) n.3101+132G>T n.3081+132G>T c.2573+132G>T (n.2573+132G>T) n.3066+132G>T | gnomAD v4 |
20 | g.3228127C>T | CA2651690936 | SLC4A11 | c.2558+132G>A (n.2558+132G>A) c.2489+132G>A (n.2489+132G>A) c.2357+132G>A (n.2357+132G>A) c.2444+132G>A (n.2444+132G>A) c.2606+132G>A (n.2606+132G>A) c.2687+132G>A (n.2687+132G>A) c.*706+132G>A (n.*706+132G>A) c.2927+132G>A (n.2927+132G>A) c.2501+132G>A (n.2501+132G>A) c.2525+132G>A (n.2525+132G>A) n.2656+132G>A c.2921+132G>A (n.2921+132G>A) n.3101+132G>A n.3081+132G>A c.2573+132G>A (n.2573+132G>A) n.3066+132G>A | gnomAD v4 |
20 | g.3228128T>A | CA2651690938 | SLC4A11 | c.2558+131A>T (n.2558+131A>T) c.2489+131A>T (n.2489+131A>T) c.2357+131A>T (n.2357+131A>T) c.2444+131A>T (n.2444+131A>T) c.2606+131A>T (n.2606+131A>T) c.2687+131A>T (n.2687+131A>T) c.*706+131A>T (n.*706+131A>T) c.2927+131A>T (n.2927+131A>T) c.2501+131A>T (n.2501+131A>T) c.2525+131A>T (n.2525+131A>T) n.2656+131A>T c.2921+131A>T (n.2921+131A>T) n.3101+131A>T n.3081+131A>T c.2573+131A>T (n.2573+131A>T) n.3066+131A>T | gnomAD v4 |
20 | g.3228128T>C | CA2651690937 | SLC4A11 | c.2558+131A>G (n.2558+131A>G) c.2489+131A>G (n.2489+131A>G) c.2357+131A>G (n.2357+131A>G) c.2444+131A>G (n.2444+131A>G) c.2606+131A>G (n.2606+131A>G) c.2687+131A>G (n.2687+131A>G) c.*706+131A>G (n.*706+131A>G) c.2927+131A>G (n.2927+131A>G) c.2501+131A>G (n.2501+131A>G) c.2525+131A>G (n.2525+131A>G) n.2656+131A>G c.2921+131A>G (n.2921+131A>G) n.3101+131A>G n.3081+131A>G c.2573+131A>G (n.2573+131A>G) n.3066+131A>G | gnomAD v4 |
20 | g.3228128T>G | CA310984548 | SLC4A11 | c.2558+131A>C (n.2558+131A>C) c.2489+131A>C (n.2489+131A>C) c.2357+131A>C (n.2357+131A>C) c.2444+131A>C (n.2444+131A>C) c.2606+131A>C (n.2606+131A>C) c.2687+131A>C (n.2687+131A>C) c.*706+131A>C (n.*706+131A>C) c.2927+131A>C (n.2927+131A>C) c.2501+131A>C (n.2501+131A>C) c.2525+131A>C (n.2525+131A>C) n.2656+131A>C c.2921+131A>C (n.2921+131A>C) n.3101+131A>C n.3081+131A>C c.2573+131A>C (n.2573+131A>C) n.3066+131A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228128T= | CA2346474828 | SLC4A11 | c.2558+131A= (n.2558+131A=) c.2489+131A= (n.2489+131A=) c.2357+131A= (n.2357+131A=) c.2444+131A= (n.2444+131A=) c.2606+131A= (n.2606+131A=) c.2687+131A= (n.2687+131A=) c.*706+131A= (n.*706+131A=) c.2927+131A= (n.2927+131A=) c.2501+131A= (n.2501+131A=) c.2525+131A= (n.2525+131A=) n.2656+131A= c.2921+131A= (n.2921+131A=) n.3101+131A= n.3081+131A= c.2573+131A= (n.2573+131A=) n.3066+131A= | |
20 | g.3228128_3228129insG | CA2651690939 | SLC4A11 | c.2558+130_2558+131insC (n.2558+130_2558+131insC) c.2489+130_2489+131insC (n.2489+130_2489+131insC) c.2357+130_2357+131insC (n.2357+130_2357+131insC) c.2444+130_2444+131insC (n.2444+130_2444+131insC) c.2606+130_2606+131insC (n.2606+130_2606+131insC) c.2687+130_2687+131insC (n.2687+130_2687+131insC) c.*706+130_*706+131insC (n.*706+130_*706+131insC) c.2927+130_2927+131insC (n.2927+130_2927+131insC) c.2501+130_2501+131insC (n.2501+130_2501+131insC) c.2525+130_2525+131insC (n.2525+130_2525+131insC) n.2656+130_2656+131insC c.2921+130_2921+131insC (n.2921+130_2921+131insC) n.3101+130_3101+131insC n.3081+130_3081+131insC c.2573+130_2573+131insC (n.2573+130_2573+131insC) n.3066+130_3066+131insC | gnomAD v4 |
20 | g.3228128_3228129insGC | CA1014849470 | SLC4A11 | c.2558+130_2558+131insGC (n.2558+130_2558+131insGC) c.2489+130_2489+131insGC (n.2489+130_2489+131insGC) c.2357+130_2357+131insGC (n.2357+130_2357+131insGC) c.2444+130_2444+131insGC (n.2444+130_2444+131insGC) c.2606+130_2606+131insGC (n.2606+130_2606+131insGC) c.2687+130_2687+131insGC (n.2687+130_2687+131insGC) c.*706+130_*706+131insGC (n.*706+130_*706+131insGC) c.2927+130_2927+131insGC (n.2927+130_2927+131insGC) c.2501+130_2501+131insGC (n.2501+130_2501+131insGC) c.2525+130_2525+131insGC (n.2525+130_2525+131insGC) n.2656+130_2656+131insGC c.2921+130_2921+131insGC (n.2921+130_2921+131insGC) n.3101+130_3101+131insGC n.3081+130_3081+131insGC c.2573+130_2573+131insGC (n.2573+130_2573+131insGC) n.3066+130_3066+131insGC | gnomAD v3 gnomAD v4 |
20 | g.3228128_3228129insGCCCG | CA2651690940 | SLC4A11 | c.2558+130_2558+131insCGGGC (n.2558+130_2558+131insCGGGC) c.2489+130_2489+131insCGGGC (n.2489+130_2489+131insCGGGC) c.2357+130_2357+131insCGGGC (n.2357+130_2357+131insCGGGC) c.2444+130_2444+131insCGGGC (n.2444+130_2444+131insCGGGC) c.2606+130_2606+131insCGGGC (n.2606+130_2606+131insCGGGC) c.2687+130_2687+131insCGGGC (n.2687+130_2687+131insCGGGC) c.*706+130_*706+131insCGGGC (n.*706+130_*706+131insCGGGC) c.2927+130_2927+131insCGGGC (n.2927+130_2927+131insCGGGC) c.2501+130_2501+131insCGGGC (n.2501+130_2501+131insCGGGC) c.2525+130_2525+131insCGGGC (n.2525+130_2525+131insCGGGC) n.2656+130_2656+131insCGGGC c.2921+130_2921+131insCGGGC (n.2921+130_2921+131insCGGGC) n.3101+130_3101+131insCGGGC n.3081+130_3081+131insCGGGC c.2573+130_2573+131insCGGGC (n.2573+130_2573+131insCGGGC) n.3066+130_3066+131insCGGGC | gnomAD v4 |
20 | g.3228129C>A | CA2651690941 | SLC4A11 | c.2558+130G>T (n.2558+130G>T) c.2489+130G>T (n.2489+130G>T) c.2357+130G>T (n.2357+130G>T) c.2444+130G>T (n.2444+130G>T) c.2606+130G>T (n.2606+130G>T) c.2687+130G>T (n.2687+130G>T) c.*706+130G>T (n.*706+130G>T) c.2927+130G>T (n.2927+130G>T) c.2501+130G>T (n.2501+130G>T) c.2525+130G>T (n.2525+130G>T) n.2656+130G>T c.2921+130G>T (n.2921+130G>T) n.3101+130G>T n.3081+130G>T c.2573+130G>T (n.2573+130G>T) n.3066+130G>T | gnomAD v4 |
20 | g.3228129C= | CA2346474829 | SLC4A11 | c.2558+130G= (n.2558+130G=) c.2489+130G= (n.2489+130G=) c.2357+130G= (n.2357+130G=) c.2444+130G= (n.2444+130G=) c.2606+130G= (n.2606+130G=) c.2687+130G= (n.2687+130G=) c.*706+130G= (n.*706+130G=) c.2927+130G= (n.2927+130G=) c.2501+130G= (n.2501+130G=) c.2525+130G= (n.2525+130G=) n.2656+130G= c.2921+130G= (n.2921+130G=) n.3101+130G= n.3081+130G= c.2573+130G= (n.2573+130G=) n.3066+130G= | |
20 | g.3228129C>G | CA2651690942 | SLC4A11 | c.2558+130G>C (n.2558+130G>C) c.2489+130G>C (n.2489+130G>C) c.2357+130G>C (n.2357+130G>C) c.2444+130G>C (n.2444+130G>C) c.2606+130G>C (n.2606+130G>C) c.2687+130G>C (n.2687+130G>C) c.*706+130G>C (n.*706+130G>C) c.2927+130G>C (n.2927+130G>C) c.2501+130G>C (n.2501+130G>C) c.2525+130G>C (n.2525+130G>C) n.2656+130G>C c.2921+130G>C (n.2921+130G>C) n.3101+130G>C n.3081+130G>C c.2573+130G>C (n.2573+130G>C) n.3066+130G>C | gnomAD v4 |
20 | g.3228129C>T | CA2346474830 | SLC4A11 | c.2558+130G>A (n.2558+130G>A) c.2489+130G>A (n.2489+130G>A) c.2357+130G>A (n.2357+130G>A) c.2444+130G>A (n.2444+130G>A) c.2606+130G>A (n.2606+130G>A) c.2687+130G>A (n.2687+130G>A) c.*706+130G>A (n.*706+130G>A) c.2927+130G>A (n.2927+130G>A) c.2501+130G>A (n.2501+130G>A) c.2525+130G>A (n.2525+130G>A) n.2656+130G>A c.2921+130G>A (n.2921+130G>A) n.3101+130G>A n.3081+130G>A c.2573+130G>A (n.2573+130G>A) n.3066+130G>A | dbSNP gnomAD v4 |
20 | g.3228131T>A | CA2651690943 | SLC4A11 | c.2558+128A>T (n.2558+128A>T) c.2489+128A>T (n.2489+128A>T) c.2357+128A>T (n.2357+128A>T) c.2444+128A>T (n.2444+128A>T) c.2606+128A>T (n.2606+128A>T) c.2687+128A>T (n.2687+128A>T) c.*706+128A>T (n.*706+128A>T) c.2927+128A>T (n.2927+128A>T) c.2501+128A>T (n.2501+128A>T) c.2525+128A>T (n.2525+128A>T) n.2656+128A>T c.2921+128A>T (n.2921+128A>T) n.3101+128A>T n.3081+128A>T c.2573+128A>T (n.2573+128A>T) n.3066+128A>T | gnomAD v4 |
20 | g.3228131T>C | CA1014849471 | SLC4A11 | c.2558+128A>G (n.2558+128A>G) c.2489+128A>G (n.2489+128A>G) c.2357+128A>G (n.2357+128A>G) c.2444+128A>G (n.2444+128A>G) c.2606+128A>G (n.2606+128A>G) c.2687+128A>G (n.2687+128A>G) c.*706+128A>G (n.*706+128A>G) c.2927+128A>G (n.2927+128A>G) c.2501+128A>G (n.2501+128A>G) c.2525+128A>G (n.2525+128A>G) n.2656+128A>G c.2921+128A>G (n.2921+128A>G) n.3101+128A>G n.3081+128A>G c.2573+128A>G (n.2573+128A>G) n.3066+128A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228131T>G | CA2651690944 | SLC4A11 | c.2558+128A>C (n.2558+128A>C) c.2489+128A>C (n.2489+128A>C) c.2357+128A>C (n.2357+128A>C) c.2444+128A>C (n.2444+128A>C) c.2606+128A>C (n.2606+128A>C) c.2687+128A>C (n.2687+128A>C) c.*706+128A>C (n.*706+128A>C) c.2927+128A>C (n.2927+128A>C) c.2501+128A>C (n.2501+128A>C) c.2525+128A>C (n.2525+128A>C) n.2656+128A>C c.2921+128A>C (n.2921+128A>C) n.3101+128A>C n.3081+128A>C c.2573+128A>C (n.2573+128A>C) n.3066+128A>C | gnomAD v4 |
20 | g.3228131T= | CA2346474831 | SLC4A11 | c.2558+128A= (n.2558+128A=) c.2489+128A= (n.2489+128A=) c.2357+128A= (n.2357+128A=) c.2444+128A= (n.2444+128A=) c.2606+128A= (n.2606+128A=) c.2687+128A= (n.2687+128A=) c.*706+128A= (n.*706+128A=) c.2927+128A= (n.2927+128A=) c.2501+128A= (n.2501+128A=) c.2525+128A= (n.2525+128A=) n.2656+128A= c.2921+128A= (n.2921+128A=) n.3101+128A= n.3081+128A= c.2573+128A= (n.2573+128A=) n.3066+128A= | |
20 | g.3228132G>C | CA2651690946 | SLC4A11 | c.2558+127C>G (n.2558+127C>G) c.2489+127C>G (n.2489+127C>G) c.2357+127C>G (n.2357+127C>G) c.2444+127C>G (n.2444+127C>G) c.2606+127C>G (n.2606+127C>G) c.2687+127C>G (n.2687+127C>G) c.*706+127C>G (n.*706+127C>G) c.2927+127C>G (n.2927+127C>G) c.2501+127C>G (n.2501+127C>G) c.2525+127C>G (n.2525+127C>G) n.2656+127C>G c.2921+127C>G (n.2921+127C>G) n.3101+127C>G n.3081+127C>G c.2573+127C>G (n.2573+127C>G) n.3066+127C>G | gnomAD v4 |
20 | g.3228132G>T | CA2651690947 | SLC4A11 | c.2558+127C>A (n.2558+127C>A) c.2489+127C>A (n.2489+127C>A) c.2357+127C>A (n.2357+127C>A) c.2444+127C>A (n.2444+127C>A) c.2606+127C>A (n.2606+127C>A) c.2687+127C>A (n.2687+127C>A) c.*706+127C>A (n.*706+127C>A) c.2927+127C>A (n.2927+127C>A) c.2501+127C>A (n.2501+127C>A) c.2525+127C>A (n.2525+127C>A) n.2656+127C>A c.2921+127C>A (n.2921+127C>A) n.3101+127C>A n.3081+127C>A c.2573+127C>A (n.2573+127C>A) n.3066+127C>A | gnomAD v4 |
20 | g.3228133_3228134del | CA2589595574 | SLC4A11 | c.2558+126_2558+127del (n.2558+126_2558+127del) c.2489+126_2489+127del (n.2489+126_2489+127del) c.2357+126_2357+127del (n.2357+126_2357+127del) c.2444+126_2444+127del (n.2444+126_2444+127del) c.2606+126_2606+127del (n.2606+126_2606+127del) c.2687+126_2687+127del (n.2687+126_2687+127del) c.*706+126_*706+127del (n.*706+126_*706+127del) c.2927+126_2927+127del (n.2927+126_2927+127del) c.2501+126_2501+127del (n.2501+126_2501+127del) c.2525+126_2525+127del (n.2525+126_2525+127del) n.2656+126_2656+127del c.2921+126_2921+127del (n.2921+126_2921+127del) n.3101+126_3101+127del n.3081+126_3081+127del c.2573+126_2573+127del (n.2573+126_2573+127del) n.3066+126_3066+127del | gnomAD v3 gnomAD v4 |
20 | g.3228132_3228135dup | CA2651690945 | SLC4A11 | c.2558+124_2558+127dup (n.2558+124_2558+127dup) c.2489+124_2489+127dup (n.2489+124_2489+127dup) c.2357+124_2357+127dup (n.2357+124_2357+127dup) c.2444+124_2444+127dup (n.2444+124_2444+127dup) c.2606+124_2606+127dup (n.2606+124_2606+127dup) c.2687+124_2687+127dup (n.2687+124_2687+127dup) c.*706+124_*706+127dup (n.*706+124_*706+127dup) c.2927+124_2927+127dup (n.2927+124_2927+127dup) c.2501+124_2501+127dup (n.2501+124_2501+127dup) c.2525+124_2525+127dup (n.2525+124_2525+127dup) n.2656+124_2656+127dup c.2921+124_2921+127dup (n.2921+124_2921+127dup) n.3101+124_3101+127dup n.3081+124_3081+127dup c.2573+124_2573+127dup (n.2573+124_2573+127dup) n.3066+124_3066+127dup | gnomAD v4 |
20 | g.3228132_3228133insCCC | CA634173545 | SLC4A11 | c.2558+126_2558+127insGGG (n.2558+126_2558+127insGGG) c.2489+126_2489+127insGGG (n.2489+126_2489+127insGGG) c.2357+126_2357+127insGGG (n.2357+126_2357+127insGGG) c.2444+126_2444+127insGGG (n.2444+126_2444+127insGGG) c.2606+126_2606+127insGGG (n.2606+126_2606+127insGGG) c.2687+126_2687+127insGGG (n.2687+126_2687+127insGGG) c.*706+126_*706+127insGGG (n.*706+126_*706+127insGGG) c.2927+126_2927+127insGGG (n.2927+126_2927+127insGGG) c.2501+126_2501+127insGGG (n.2501+126_2501+127insGGG) c.2525+126_2525+127insGGG (n.2525+126_2525+127insGGG) n.2656+126_2656+127insGGG c.2921+126_2921+127insGGG (n.2921+126_2921+127insGGG) n.3101+126_3101+127insGGG n.3081+126_3081+127insGGG c.2573+126_2573+127insGGG (n.2573+126_2573+127insGGG) n.3066+126_3066+127insGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228133G>T | CA2651690949 | SLC4A11 | c.2558+126C>A (n.2558+126C>A) c.2489+126C>A (n.2489+126C>A) c.2357+126C>A (n.2357+126C>A) c.2444+126C>A (n.2444+126C>A) c.2606+126C>A (n.2606+126C>A) c.2687+126C>A (n.2687+126C>A) c.*706+126C>A (n.*706+126C>A) c.2927+126C>A (n.2927+126C>A) c.2501+126C>A (n.2501+126C>A) c.2525+126C>A (n.2525+126C>A) n.2656+126C>A c.2921+126C>A (n.2921+126C>A) n.3101+126C>A n.3081+126C>A c.2573+126C>A (n.2573+126C>A) n.3066+126C>A | gnomAD v4 |
20 | g.3228135_3228136insCGGC | CA2651690950 | SLC4A11 | c.2558+126_2558+127insGGCC (n.2558+126_2558+127insGGCC) c.2489+126_2489+127insGGCC (n.2489+126_2489+127insGGCC) c.2357+126_2357+127insGGCC (n.2357+126_2357+127insGGCC) c.2444+126_2444+127insGGCC (n.2444+126_2444+127insGGCC) c.2606+126_2606+127insGGCC (n.2606+126_2606+127insGGCC) c.2687+126_2687+127insGGCC (n.2687+126_2687+127insGGCC) c.*706+126_*706+127insGGCC (n.*706+126_*706+127insGGCC) c.2927+126_2927+127insGGCC (n.2927+126_2927+127insGGCC) c.2501+126_2501+127insGGCC (n.2501+126_2501+127insGGCC) c.2525+126_2525+127insGGCC (n.2525+126_2525+127insGGCC) n.2656+126_2656+127insGGCC c.2921+126_2921+127insGGCC (n.2921+126_2921+127insGGCC) n.3101+126_3101+127insGGCC n.3081+126_3081+127insGGCC c.2573+126_2573+127insGGCC (n.2573+126_2573+127insGGCC) n.3066+126_3066+127insGGCC | gnomAD v4 |
20 | g.3228133_3228135dup | CA2651690948 | SLC4A11 | c.2558+124_2558+126dup (n.2558+124_2558+126dup) c.2489+124_2489+126dup (n.2489+124_2489+126dup) c.2357+124_2357+126dup (n.2357+124_2357+126dup) c.2444+124_2444+126dup (n.2444+124_2444+126dup) c.2606+124_2606+126dup (n.2606+124_2606+126dup) c.2687+124_2687+126dup (n.2687+124_2687+126dup) c.*706+124_*706+126dup (n.*706+124_*706+126dup) c.2927+124_2927+126dup (n.2927+124_2927+126dup) c.2501+124_2501+126dup (n.2501+124_2501+126dup) c.2525+124_2525+126dup (n.2525+124_2525+126dup) n.2656+124_2656+126dup c.2921+124_2921+126dup (n.2921+124_2921+126dup) n.3101+124_3101+126dup n.3081+124_3081+126dup c.2573+124_2573+126dup (n.2573+124_2573+126dup) n.3066+124_3066+126dup | gnomAD v4 |
20 | g.3228133_3228146del | CA2815075146 | SLC4A11 | c.2558+113_2558+126del (n.2558+113_2558+126del) c.2489+113_2489+126del (n.2489+113_2489+126del) c.2357+113_2357+126del (n.2357+113_2357+126del) c.2444+113_2444+126del (n.2444+113_2444+126del) c.2606+113_2606+126del (n.2606+113_2606+126del) c.2687+113_2687+126del (n.2687+113_2687+126del) c.*706+113_*706+126del (n.*706+113_*706+126del) c.2927+113_2927+126del (n.2927+113_2927+126del) c.2501+113_2501+126del (n.2501+113_2501+126del) c.2525+113_2525+126del (n.2525+113_2525+126del) n.2656+113_2656+126del c.2921+113_2921+126del (n.2921+113_2921+126del) n.3101+113_3101+126del n.3081+113_3081+126del c.2573+113_2573+126del (n.2573+113_2573+126del) n.3066+113_3066+126del | |
20 | g.3228134G>A | CA2651690955 | SLC4A11 | c.2558+125C>T (n.2558+125C>T) c.2489+125C>T (n.2489+125C>T) c.2357+125C>T (n.2357+125C>T) c.2444+125C>T (n.2444+125C>T) c.2606+125C>T (n.2606+125C>T) c.2687+125C>T (n.2687+125C>T) c.*706+125C>T (n.*706+125C>T) c.2927+125C>T (n.2927+125C>T) c.2501+125C>T (n.2501+125C>T) c.2525+125C>T (n.2525+125C>T) n.2656+125C>T c.2921+125C>T (n.2921+125C>T) n.3101+125C>T n.3081+125C>T c.2573+125C>T (n.2573+125C>T) n.3066+125C>T | gnomAD v4 |
20 | g.3228134G>C | CA634173546 | SLC4A11 | c.2558+125C>G (n.2558+125C>G) c.2489+125C>G (n.2489+125C>G) c.2357+125C>G (n.2357+125C>G) c.2444+125C>G (n.2444+125C>G) c.2606+125C>G (n.2606+125C>G) c.2687+125C>G (n.2687+125C>G) c.*706+125C>G (n.*706+125C>G) c.2927+125C>G (n.2927+125C>G) c.2501+125C>G (n.2501+125C>G) c.2525+125C>G (n.2525+125C>G) n.2656+125C>G c.2921+125C>G (n.2921+125C>G) n.3101+125C>G n.3081+125C>G c.2573+125C>G (n.2573+125C>G) n.3066+125C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228135_3228136insCGC | CA2651690952 | SLC4A11 | c.2558+125_2558+126insGGC (n.2558+125_2558+126insGGC) c.2489+125_2489+126insGGC (n.2489+125_2489+126insGGC) c.2357+125_2357+126insGGC (n.2357+125_2357+126insGGC) c.2444+125_2444+126insGGC (n.2444+125_2444+126insGGC) c.2606+125_2606+126insGGC (n.2606+125_2606+126insGGC) c.2687+125_2687+126insGGC (n.2687+125_2687+126insGGC) c.*706+125_*706+126insGGC (n.*706+125_*706+126insGGC) c.2927+125_2927+126insGGC (n.2927+125_2927+126insGGC) c.2501+125_2501+126insGGC (n.2501+125_2501+126insGGC) c.2525+125_2525+126insGGC (n.2525+125_2525+126insGGC) n.2656+125_2656+126insGGC c.2921+125_2921+126insGGC (n.2921+125_2921+126insGGC) n.3101+125_3101+126insGGC n.3081+125_3081+126insGGC c.2573+125_2573+126insGGC (n.2573+125_2573+126insGGC) n.3066+125_3066+126insGGC | gnomAD v4 |
20 | g.3228135_3228136insTGC | CA2651690954 | SLC4A11 | c.2558+125_2558+126insAGC (n.2558+125_2558+126insAGC) c.2489+125_2489+126insAGC (n.2489+125_2489+126insAGC) c.2357+125_2357+126insAGC (n.2357+125_2357+126insAGC) c.2444+125_2444+126insAGC (n.2444+125_2444+126insAGC) c.2606+125_2606+126insAGC (n.2606+125_2606+126insAGC) c.2687+125_2687+126insAGC (n.2687+125_2687+126insAGC) c.*706+125_*706+126insAGC (n.*706+125_*706+126insAGC) c.2927+125_2927+126insAGC (n.2927+125_2927+126insAGC) c.2501+125_2501+126insAGC (n.2501+125_2501+126insAGC) c.2525+125_2525+126insAGC (n.2525+125_2525+126insAGC) n.2656+125_2656+126insAGC c.2921+125_2921+126insAGC (n.2921+125_2921+126insAGC) n.3101+125_3101+126insAGC n.3081+125_3081+126insAGC c.2573+125_2573+126insAGC (n.2573+125_2573+126insAGC) n.3066+125_3066+126insAGC | gnomAD v4 |
20 | g.3228135_3228136insGCGC | CA2651690953 | SLC4A11 | c.2558+125_2558+126insGCGC (n.2558+125_2558+126insGCGC) c.2489+125_2489+126insGCGC (n.2489+125_2489+126insGCGC) c.2357+125_2357+126insGCGC (n.2357+125_2357+126insGCGC) c.2444+125_2444+126insGCGC (n.2444+125_2444+126insGCGC) c.2606+125_2606+126insGCGC (n.2606+125_2606+126insGCGC) c.2687+125_2687+126insGCGC (n.2687+125_2687+126insGCGC) c.*706+125_*706+126insGCGC (n.*706+125_*706+126insGCGC) c.2927+125_2927+126insGCGC (n.2927+125_2927+126insGCGC) c.2501+125_2501+126insGCGC (n.2501+125_2501+126insGCGC) c.2525+125_2525+126insGCGC (n.2525+125_2525+126insGCGC) n.2656+125_2656+126insGCGC c.2921+125_2921+126insGCGC (n.2921+125_2921+126insGCGC) n.3101+125_3101+126insGCGC n.3081+125_3081+126insGCGC c.2573+125_2573+126insGCGC (n.2573+125_2573+126insGCGC) n.3066+125_3066+126insGCGC | gnomAD v4 |
20 | g.3228134_3228135dup | CA2651690951 | SLC4A11 | c.2558+124_2558+125dup (n.2558+124_2558+125dup) c.2489+124_2489+125dup (n.2489+124_2489+125dup) c.2357+124_2357+125dup (n.2357+124_2357+125dup) c.2444+124_2444+125dup (n.2444+124_2444+125dup) c.2606+124_2606+125dup (n.2606+124_2606+125dup) c.2687+124_2687+125dup (n.2687+124_2687+125dup) c.*706+124_*706+125dup (n.*706+124_*706+125dup) c.2927+124_2927+125dup (n.2927+124_2927+125dup) c.2501+124_2501+125dup (n.2501+124_2501+125dup) c.2525+124_2525+125dup (n.2525+124_2525+125dup) n.2656+124_2656+125dup c.2921+124_2921+125dup (n.2921+124_2921+125dup) n.3101+124_3101+125dup n.3081+124_3081+125dup c.2573+124_2573+125dup (n.2573+124_2573+125dup) n.3066+124_3066+125dup | gnomAD v4 |
20 | g.3228135C>A | CA2651690967 | SLC4A11 | c.2558+124G>T (n.2558+124G>T) c.2489+124G>T (n.2489+124G>T) c.2357+124G>T (n.2357+124G>T) c.2444+124G>T (n.2444+124G>T) c.2606+124G>T (n.2606+124G>T) c.2687+124G>T (n.2687+124G>T) c.*706+124G>T (n.*706+124G>T) c.2927+124G>T (n.2927+124G>T) c.2501+124G>T (n.2501+124G>T) c.2525+124G>T (n.2525+124G>T) n.2656+124G>T c.2921+124G>T (n.2921+124G>T) n.3101+124G>T n.3081+124G>T c.2573+124G>T (n.2573+124G>T) n.3066+124G>T | gnomAD v4 |
20 | g.3228135C= | CA2346474833 | SLC4A11 | c.2558+124G= (n.2558+124G=) c.2489+124G= (n.2489+124G=) c.2357+124G= (n.2357+124G=) c.2444+124G= (n.2444+124G=) c.2606+124G= (n.2606+124G=) c.2687+124G= (n.2687+124G=) c.*706+124G= (n.*706+124G=) c.2927+124G= (n.2927+124G=) c.2501+124G= (n.2501+124G=) c.2525+124G= (n.2525+124G=) n.2656+124G= c.2921+124G= (n.2921+124G=) n.3101+124G= n.3081+124G= c.2573+124G= (n.2573+124G=) n.3066+124G= | |
20 | g.3228135C>T | CA2346474832 | SLC4A11 | c.2558+124G>A (n.2558+124G>A) c.2489+124G>A (n.2489+124G>A) c.2357+124G>A (n.2357+124G>A) c.2444+124G>A (n.2444+124G>A) c.2606+124G>A (n.2606+124G>A) c.2687+124G>A (n.2687+124G>A) c.*706+124G>A (n.*706+124G>A) c.2927+124G>A (n.2927+124G>A) c.2501+124G>A (n.2501+124G>A) c.2525+124G>A (n.2525+124G>A) n.2656+124G>A c.2921+124G>A (n.2921+124G>A) n.3101+124G>A n.3081+124G>A c.2573+124G>A (n.2573+124G>A) n.3066+124G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228135_3228136insCC | CA2651690971 | SLC4A11 | c.2558+124_2558+125insGG (n.2558+124_2558+125insGG) c.2489+124_2489+125insGG (n.2489+124_2489+125insGG) c.2357+124_2357+125insGG (n.2357+124_2357+125insGG) c.2444+124_2444+125insGG (n.2444+124_2444+125insGG) c.2606+124_2606+125insGG (n.2606+124_2606+125insGG) c.2687+124_2687+125insGG (n.2687+124_2687+125insGG) c.*706+124_*706+125insGG (n.*706+124_*706+125insGG) c.2927+124_2927+125insGG (n.2927+124_2927+125insGG) c.2501+124_2501+125insGG (n.2501+124_2501+125insGG) c.2525+124_2525+125insGG (n.2525+124_2525+125insGG) n.2656+124_2656+125insGG c.2921+124_2921+125insGG (n.2921+124_2921+125insGG) n.3101+124_3101+125insGG n.3081+124_3081+125insGG c.2573+124_2573+125insGG (n.2573+124_2573+125insGG) n.3066+124_3066+125insGG | gnomAD v4 |
20 | g.3228135_3228136insCGCC | CA2651690978 | SLC4A11 | c.2558+124_2558+125insGCGG (n.2558+124_2558+125insGCGG) c.2489+124_2489+125insGCGG (n.2489+124_2489+125insGCGG) c.2357+124_2357+125insGCGG (n.2357+124_2357+125insGCGG) c.2444+124_2444+125insGCGG (n.2444+124_2444+125insGCGG) c.2606+124_2606+125insGCGG (n.2606+124_2606+125insGCGG) c.2687+124_2687+125insGCGG (n.2687+124_2687+125insGCGG) c.*706+124_*706+125insGCGG (n.*706+124_*706+125insGCGG) c.2927+124_2927+125insGCGG (n.2927+124_2927+125insGCGG) c.2501+124_2501+125insGCGG (n.2501+124_2501+125insGCGG) c.2525+124_2525+125insGCGG (n.2525+124_2525+125insGCGG) n.2656+124_2656+125insGCGG c.2921+124_2921+125insGCGG (n.2921+124_2921+125insGCGG) n.3101+124_3101+125insGCGG n.3081+124_3081+125insGCGG c.2573+124_2573+125insGCGG (n.2573+124_2573+125insGCGG) n.3066+124_3066+125insGCGG | gnomAD v4 |
20 | g.3228135_3228136insGGCC | CA2651690960 | SLC4A11 | c.2558+124_2558+125insGCCG (n.2558+124_2558+125insGCCG) c.2489+124_2489+125insGCCG (n.2489+124_2489+125insGCCG) c.2357+124_2357+125insGCCG (n.2357+124_2357+125insGCCG) c.2444+124_2444+125insGCCG (n.2444+124_2444+125insGCCG) c.2606+124_2606+125insGCCG (n.2606+124_2606+125insGCCG) c.2687+124_2687+125insGCCG (n.2687+124_2687+125insGCCG) c.*706+124_*706+125insGCCG (n.*706+124_*706+125insGCCG) c.2927+124_2927+125insGCCG (n.2927+124_2927+125insGCCG) c.2501+124_2501+125insGCCG (n.2501+124_2501+125insGCCG) c.2525+124_2525+125insGCCG (n.2525+124_2525+125insGCCG) n.2656+124_2656+125insGCCG c.2921+124_2921+125insGCCG (n.2921+124_2921+125insGCCG) n.3101+124_3101+125insGCCG n.3081+124_3081+125insGCCG c.2573+124_2573+125insGCCG (n.2573+124_2573+125insGCCG) n.3066+124_3066+125insGCCG | gnomAD v4 |
20 | g.3228135_3228136insCCACC | CA2589595575 | SLC4A11 | c.2558+124_2558+125insGTGGG (n.2558+124_2558+125insGTGGG) c.2489+124_2489+125insGTGGG (n.2489+124_2489+125insGTGGG) c.2357+124_2357+125insGTGGG (n.2357+124_2357+125insGTGGG) c.2444+124_2444+125insGTGGG (n.2444+124_2444+125insGTGGG) c.2606+124_2606+125insGTGGG (n.2606+124_2606+125insGTGGG) c.2687+124_2687+125insGTGGG (n.2687+124_2687+125insGTGGG) c.*706+124_*706+125insGTGGG (n.*706+124_*706+125insGTGGG) c.2927+124_2927+125insGTGGG (n.2927+124_2927+125insGTGGG) c.2501+124_2501+125insGTGGG (n.2501+124_2501+125insGTGGG) c.2525+124_2525+125insGTGGG (n.2525+124_2525+125insGTGGG) n.2656+124_2656+125insGTGGG c.2921+124_2921+125insGTGGG (n.2921+124_2921+125insGTGGG) n.3101+124_3101+125insGTGGG n.3081+124_3081+125insGTGGG c.2573+124_2573+125insGTGGG (n.2573+124_2573+125insGTGGG) n.3066+124_3066+125insGTGGG | gnomAD v3 gnomAD v4 |
20 | g.3228135_3228136insCGCCC | CA2651690979 | SLC4A11 | c.2558+124_2558+125insGGCGG (n.2558+124_2558+125insGGCGG) c.2489+124_2489+125insGGCGG (n.2489+124_2489+125insGGCGG) c.2357+124_2357+125insGGCGG (n.2357+124_2357+125insGGCGG) c.2444+124_2444+125insGGCGG (n.2444+124_2444+125insGGCGG) c.2606+124_2606+125insGGCGG (n.2606+124_2606+125insGGCGG) c.2687+124_2687+125insGGCGG (n.2687+124_2687+125insGGCGG) c.*706+124_*706+125insGGCGG (n.*706+124_*706+125insGGCGG) c.2927+124_2927+125insGGCGG (n.2927+124_2927+125insGGCGG) c.2501+124_2501+125insGGCGG (n.2501+124_2501+125insGGCGG) c.2525+124_2525+125insGGCGG (n.2525+124_2525+125insGGCGG) n.2656+124_2656+125insGGCGG c.2921+124_2921+125insGGCGG (n.2921+124_2921+125insGGCGG) n.3101+124_3101+125insGGCGG n.3081+124_3081+125insGGCGG c.2573+124_2573+125insGGCGG (n.2573+124_2573+125insGGCGG) n.3066+124_3066+125insGGCGG | gnomAD v4 |
20 | g.3228135_3228136insCGGCC | CA2651690969 | SLC4A11 | c.2558+124_2558+125insGCCGG (n.2558+124_2558+125insGCCGG) c.2489+124_2489+125insGCCGG (n.2489+124_2489+125insGCCGG) c.2357+124_2357+125insGCCGG (n.2357+124_2357+125insGCCGG) c.2444+124_2444+125insGCCGG (n.2444+124_2444+125insGCCGG) c.2606+124_2606+125insGCCGG (n.2606+124_2606+125insGCCGG) c.2687+124_2687+125insGCCGG (n.2687+124_2687+125insGCCGG) c.*706+124_*706+125insGCCGG (n.*706+124_*706+125insGCCGG) c.2927+124_2927+125insGCCGG (n.2927+124_2927+125insGCCGG) c.2501+124_2501+125insGCCGG (n.2501+124_2501+125insGCCGG) c.2525+124_2525+125insGCCGG (n.2525+124_2525+125insGCCGG) n.2656+124_2656+125insGCCGG c.2921+124_2921+125insGCCGG (n.2921+124_2921+125insGCCGG) n.3101+124_3101+125insGCCGG n.3081+124_3081+125insGCCGG c.2573+124_2573+125insGCCGG (n.2573+124_2573+125insGCCGG) n.3066+124_3066+125insGCCGG | gnomAD v4 |
20 | g.3228135_3228136insGGCCC | CA2651690961 | SLC4A11 | c.2558+124_2558+125insGGCCG (n.2558+124_2558+125insGGCCG) c.2489+124_2489+125insGGCCG (n.2489+124_2489+125insGGCCG) c.2357+124_2357+125insGGCCG (n.2357+124_2357+125insGGCCG) c.2444+124_2444+125insGGCCG (n.2444+124_2444+125insGGCCG) c.2606+124_2606+125insGGCCG (n.2606+124_2606+125insGGCCG) c.2687+124_2687+125insGGCCG (n.2687+124_2687+125insGGCCG) c.*706+124_*706+125insGGCCG (n.*706+124_*706+125insGGCCG) c.2927+124_2927+125insGGCCG (n.2927+124_2927+125insGGCCG) c.2501+124_2501+125insGGCCG (n.2501+124_2501+125insGGCCG) c.2525+124_2525+125insGGCCG (n.2525+124_2525+125insGGCCG) n.2656+124_2656+125insGGCCG c.2921+124_2921+125insGGCCG (n.2921+124_2921+125insGGCCG) n.3101+124_3101+125insGGCCG n.3081+124_3081+125insGGCCG c.2573+124_2573+125insGGCCG (n.2573+124_2573+125insGGCCG) n.3066+124_3066+125insGGCCG | gnomAD v4 |
20 | g.3228135_3228136insGGGCC | CA2651690963 | SLC4A11 | c.2558+124_2558+125insGCCCG (n.2558+124_2558+125insGCCCG) c.2489+124_2489+125insGCCCG (n.2489+124_2489+125insGCCCG) c.2357+124_2357+125insGCCCG (n.2357+124_2357+125insGCCCG) c.2444+124_2444+125insGCCCG (n.2444+124_2444+125insGCCCG) c.2606+124_2606+125insGCCCG (n.2606+124_2606+125insGCCCG) c.2687+124_2687+125insGCCCG (n.2687+124_2687+125insGCCCG) c.*706+124_*706+125insGCCCG (n.*706+124_*706+125insGCCCG) c.2927+124_2927+125insGCCCG (n.2927+124_2927+125insGCCCG) c.2501+124_2501+125insGCCCG (n.2501+124_2501+125insGCCCG) c.2525+124_2525+125insGCCCG (n.2525+124_2525+125insGCCCG) n.2656+124_2656+125insGCCCG c.2921+124_2921+125insGCCCG (n.2921+124_2921+125insGCCCG) n.3101+124_3101+125insGCCCG n.3081+124_3081+125insGCCCG c.2573+124_2573+125insGCCCG (n.2573+124_2573+125insGCCCG) n.3066+124_3066+125insGCCCG | gnomAD v4 |
20 | g.3228135_3228136insCCCCCC | CA2651690972 | SLC4A11 | c.2558+124_2558+125insGGGGGG (n.2558+124_2558+125insGGGGGG) c.2489+124_2489+125insGGGGGG (n.2489+124_2489+125insGGGGGG) c.2357+124_2357+125insGGGGGG (n.2357+124_2357+125insGGGGGG) c.2444+124_2444+125insGGGGGG (n.2444+124_2444+125insGGGGGG) c.2606+124_2606+125insGGGGGG (n.2606+124_2606+125insGGGGGG) c.2687+124_2687+125insGGGGGG (n.2687+124_2687+125insGGGGGG) c.*706+124_*706+125insGGGGGG (n.*706+124_*706+125insGGGGGG) c.2927+124_2927+125insGGGGGG (n.2927+124_2927+125insGGGGGG) c.2501+124_2501+125insGGGGGG (n.2501+124_2501+125insGGGGGG) c.2525+124_2525+125insGGGGGG (n.2525+124_2525+125insGGGGGG) n.2656+124_2656+125insGGGGGG c.2921+124_2921+125insGGGGGG (n.2921+124_2921+125insGGGGGG) n.3101+124_3101+125insGGGGGG n.3081+124_3081+125insGGGGGG c.2573+124_2573+125insGGGGGG (n.2573+124_2573+125insGGGGGG) n.3066+124_3066+125insGGGGGG | gnomAD v4 |
20 | g.3228135_3228136insGCCCCC | CA2651690956 | SLC4A11 | c.2558+124_2558+125insGGGGCG (n.2558+124_2558+125insGGGGCG) c.2489+124_2489+125insGGGGCG (n.2489+124_2489+125insGGGGCG) c.2357+124_2357+125insGGGGCG (n.2357+124_2357+125insGGGGCG) c.2444+124_2444+125insGGGGCG (n.2444+124_2444+125insGGGGCG) c.2606+124_2606+125insGGGGCG (n.2606+124_2606+125insGGGGCG) c.2687+124_2687+125insGGGGCG (n.2687+124_2687+125insGGGGCG) c.*706+124_*706+125insGGGGCG (n.*706+124_*706+125insGGGGCG) c.2927+124_2927+125insGGGGCG (n.2927+124_2927+125insGGGGCG) c.2501+124_2501+125insGGGGCG (n.2501+124_2501+125insGGGGCG) c.2525+124_2525+125insGGGGCG (n.2525+124_2525+125insGGGGCG) n.2656+124_2656+125insGGGGCG c.2921+124_2921+125insGGGGCG (n.2921+124_2921+125insGGGGCG) n.3101+124_3101+125insGGGGCG n.3081+124_3081+125insGGGGCG c.2573+124_2573+125insGGGGCG (n.2573+124_2573+125insGGGGCG) n.3066+124_3066+125insGGGGCG | gnomAD v4 |
20 | g.3228135_3228136insCCCCCCC | CA2651690973 | SLC4A11 | c.2558+124_2558+125insGGGGGGG (n.2558+124_2558+125insGGGGGGG) c.2489+124_2489+125insGGGGGGG (n.2489+124_2489+125insGGGGGGG) c.2357+124_2357+125insGGGGGGG (n.2357+124_2357+125insGGGGGGG) c.2444+124_2444+125insGGGGGGG (n.2444+124_2444+125insGGGGGGG) c.2606+124_2606+125insGGGGGGG (n.2606+124_2606+125insGGGGGGG) c.2687+124_2687+125insGGGGGGG (n.2687+124_2687+125insGGGGGGG) c.*706+124_*706+125insGGGGGGG (n.*706+124_*706+125insGGGGGGG) c.2927+124_2927+125insGGGGGGG (n.2927+124_2927+125insGGGGGGG) c.2501+124_2501+125insGGGGGGG (n.2501+124_2501+125insGGGGGGG) c.2525+124_2525+125insGGGGGGG (n.2525+124_2525+125insGGGGGGG) n.2656+124_2656+125insGGGGGGG c.2921+124_2921+125insGGGGGGG (n.2921+124_2921+125insGGGGGGG) n.3101+124_3101+125insGGGGGGG n.3081+124_3081+125insGGGGGGG c.2573+124_2573+125insGGGGGGG (n.2573+124_2573+125insGGGGGGG) n.3066+124_3066+125insGGGGGGG | gnomAD v4 |
20 | g.3228135_3228136insGCCCCCC | CA2651690958 | SLC4A11 | c.2558+124_2558+125insGGGGGCG (n.2558+124_2558+125insGGGGGCG) c.2489+124_2489+125insGGGGGCG (n.2489+124_2489+125insGGGGGCG) c.2357+124_2357+125insGGGGGCG (n.2357+124_2357+125insGGGGGCG) c.2444+124_2444+125insGGGGGCG (n.2444+124_2444+125insGGGGGCG) c.2606+124_2606+125insGGGGGCG (n.2606+124_2606+125insGGGGGCG) c.2687+124_2687+125insGGGGGCG (n.2687+124_2687+125insGGGGGCG) c.*706+124_*706+125insGGGGGCG (n.*706+124_*706+125insGGGGGCG) c.2927+124_2927+125insGGGGGCG (n.2927+124_2927+125insGGGGGCG) c.2501+124_2501+125insGGGGGCG (n.2501+124_2501+125insGGGGGCG) c.2525+124_2525+125insGGGGGCG (n.2525+124_2525+125insGGGGGCG) n.2656+124_2656+125insGGGGGCG c.2921+124_2921+125insGGGGGCG (n.2921+124_2921+125insGGGGGCG) n.3101+124_3101+125insGGGGGCG n.3081+124_3081+125insGGGGGCG c.2573+124_2573+125insGGGGGCG (n.2573+124_2573+125insGGGGGCG) n.3066+124_3066+125insGGGGGCG | gnomAD v4 |
20 | g.3228135_3228136insCCCCCCCC | CA2651690974 | SLC4A11 | c.2558+124_2558+125insGGGGGGGG (n.2558+124_2558+125insGGGGGGGG) c.2489+124_2489+125insGGGGGGGG (n.2489+124_2489+125insGGGGGGGG) c.2357+124_2357+125insGGGGGGGG (n.2357+124_2357+125insGGGGGGGG) c.2444+124_2444+125insGGGGGGGG (n.2444+124_2444+125insGGGGGGGG) c.2606+124_2606+125insGGGGGGGG (n.2606+124_2606+125insGGGGGGGG) c.2687+124_2687+125insGGGGGGGG (n.2687+124_2687+125insGGGGGGGG) c.*706+124_*706+125insGGGGGGGG (n.*706+124_*706+125insGGGGGGGG) c.2927+124_2927+125insGGGGGGGG (n.2927+124_2927+125insGGGGGGGG) c.2501+124_2501+125insGGGGGGGG (n.2501+124_2501+125insGGGGGGGG) c.2525+124_2525+125insGGGGGGGG (n.2525+124_2525+125insGGGGGGGG) n.2656+124_2656+125insGGGGGGGG c.2921+124_2921+125insGGGGGGGG (n.2921+124_2921+125insGGGGGGGG) n.3101+124_3101+125insGGGGGGGG n.3081+124_3081+125insGGGGGGGG c.2573+124_2573+125insGGGGGGGG (n.2573+124_2573+125insGGGGGGGG) n.3066+124_3066+125insGGGGGGGG | gnomAD v4 |
20 | g.3228135_3228136insCCCCCCCCCC | CA2651690975 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGGG (n.2558+124_2558+125insGGGGGGGGGG) c.2489+124_2489+125insGGGGGGGGGG (n.2489+124_2489+125insGGGGGGGGGG) c.2357+124_2357+125insGGGGGGGGGG (n.2357+124_2357+125insGGGGGGGGGG) c.2444+124_2444+125insGGGGGGGGGG (n.2444+124_2444+125insGGGGGGGGGG) c.2606+124_2606+125insGGGGGGGGGG (n.2606+124_2606+125insGGGGGGGGGG) c.2687+124_2687+125insGGGGGGGGGG (n.2687+124_2687+125insGGGGGGGGGG) c.*706+124_*706+125insGGGGGGGGGG (n.*706+124_*706+125insGGGGGGGGGG) c.2927+124_2927+125insGGGGGGGGGG (n.2927+124_2927+125insGGGGGGGGGG) c.2501+124_2501+125insGGGGGGGGGG (n.2501+124_2501+125insGGGGGGGGGG) c.2525+124_2525+125insGGGGGGGGGG (n.2525+124_2525+125insGGGGGGGGGG) n.2656+124_2656+125insGGGGGGGGGG c.2921+124_2921+125insGGGGGGGGGG (n.2921+124_2921+125insGGGGGGGGGG) n.3101+124_3101+125insGGGGGGGGGG n.3081+124_3081+125insGGGGGGGGGG c.2573+124_2573+125insGGGGGGGGGG (n.2573+124_2573+125insGGGGGGGGGG) n.3066+124_3066+125insGGGGGGGGGG | gnomAD v4 |
20 | g.3228135_3228136insCGCCCCCCCC | CA2651690980 | SLC4A11 | c.2558+124_2558+125insGGGGGGGCGG (n.2558+124_2558+125insGGGGGGGCGG) c.2489+124_2489+125insGGGGGGGCGG (n.2489+124_2489+125insGGGGGGGCGG) c.2357+124_2357+125insGGGGGGGCGG (n.2357+124_2357+125insGGGGGGGCGG) c.2444+124_2444+125insGGGGGGGCGG (n.2444+124_2444+125insGGGGGGGCGG) c.2606+124_2606+125insGGGGGGGCGG (n.2606+124_2606+125insGGGGGGGCGG) c.2687+124_2687+125insGGGGGGGCGG (n.2687+124_2687+125insGGGGGGGCGG) c.*706+124_*706+125insGGGGGGGCGG (n.*706+124_*706+125insGGGGGGGCGG) c.2927+124_2927+125insGGGGGGGCGG (n.2927+124_2927+125insGGGGGGGCGG) c.2501+124_2501+125insGGGGGGGCGG (n.2501+124_2501+125insGGGGGGGCGG) c.2525+124_2525+125insGGGGGGGCGG (n.2525+124_2525+125insGGGGGGGCGG) n.2656+124_2656+125insGGGGGGGCGG c.2921+124_2921+125insGGGGGGGCGG (n.2921+124_2921+125insGGGGGGGCGG) n.3101+124_3101+125insGGGGGGGCGG n.3081+124_3081+125insGGGGGGGCGG c.2573+124_2573+125insGGGGGGGCGG (n.2573+124_2573+125insGGGGGGGCGG) n.3066+124_3066+125insGGGGGGGCGG | gnomAD v4 |
20 | g.3228135_3228136insCCCCCCCCCCC | CA2651690976 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGGGG (n.2558+124_2558+125insGGGGGGGGGGG) c.2489+124_2489+125insGGGGGGGGGGG (n.2489+124_2489+125insGGGGGGGGGGG) c.2357+124_2357+125insGGGGGGGGGGG (n.2357+124_2357+125insGGGGGGGGGGG) c.2444+124_2444+125insGGGGGGGGGGG (n.2444+124_2444+125insGGGGGGGGGGG) c.2606+124_2606+125insGGGGGGGGGGG (n.2606+124_2606+125insGGGGGGGGGGG) c.2687+124_2687+125insGGGGGGGGGGG (n.2687+124_2687+125insGGGGGGGGGGG) c.*706+124_*706+125insGGGGGGGGGGG (n.*706+124_*706+125insGGGGGGGGGGG) c.2927+124_2927+125insGGGGGGGGGGG (n.2927+124_2927+125insGGGGGGGGGGG) c.2501+124_2501+125insGGGGGGGGGGG (n.2501+124_2501+125insGGGGGGGGGGG) c.2525+124_2525+125insGGGGGGGGGGG (n.2525+124_2525+125insGGGGGGGGGGG) n.2656+124_2656+125insGGGGGGGGGGG c.2921+124_2921+125insGGGGGGGGGGG (n.2921+124_2921+125insGGGGGGGGGGG) n.3101+124_3101+125insGGGGGGGGGGG n.3081+124_3081+125insGGGGGGGGGGG c.2573+124_2573+125insGGGGGGGGGGG (n.2573+124_2573+125insGGGGGGGGGGG) n.3066+124_3066+125insGGGGGGGGGGG | gnomAD v4 |
20 | g.3228135_3228136insCCGCCCCCCCC | CA2651690977 | SLC4A11 | c.2558+124_2558+125insGGGGGGGCGGG (n.2558+124_2558+125insGGGGGGGCGGG) c.2489+124_2489+125insGGGGGGGCGGG (n.2489+124_2489+125insGGGGGGGCGGG) c.2357+124_2357+125insGGGGGGGCGGG (n.2357+124_2357+125insGGGGGGGCGGG) c.2444+124_2444+125insGGGGGGGCGGG (n.2444+124_2444+125insGGGGGGGCGGG) c.2606+124_2606+125insGGGGGGGCGGG (n.2606+124_2606+125insGGGGGGGCGGG) c.2687+124_2687+125insGGGGGGGCGGG (n.2687+124_2687+125insGGGGGGGCGGG) c.*706+124_*706+125insGGGGGGGCGGG (n.*706+124_*706+125insGGGGGGGCGGG) c.2927+124_2927+125insGGGGGGGCGGG (n.2927+124_2927+125insGGGGGGGCGGG) c.2501+124_2501+125insGGGGGGGCGGG (n.2501+124_2501+125insGGGGGGGCGGG) c.2525+124_2525+125insGGGGGGGCGGG (n.2525+124_2525+125insGGGGGGGCGGG) n.2656+124_2656+125insGGGGGGGCGGG c.2921+124_2921+125insGGGGGGGCGGG (n.2921+124_2921+125insGGGGGGGCGGG) n.3101+124_3101+125insGGGGGGGCGGG n.3081+124_3081+125insGGGGGGGCGGG c.2573+124_2573+125insGGGGGGGCGGG (n.2573+124_2573+125insGGGGGGGCGGG) n.3066+124_3066+125insGGGGGGGCGGG | gnomAD v4 |
20 | g.3228135_3228136insCGCCCCCCCCC | CA2651690981 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGCGG (n.2558+124_2558+125insGGGGGGGGCGG) c.2489+124_2489+125insGGGGGGGGCGG (n.2489+124_2489+125insGGGGGGGGCGG) c.2357+124_2357+125insGGGGGGGGCGG (n.2357+124_2357+125insGGGGGGGGCGG) c.2444+124_2444+125insGGGGGGGGCGG (n.2444+124_2444+125insGGGGGGGGCGG) c.2606+124_2606+125insGGGGGGGGCGG (n.2606+124_2606+125insGGGGGGGGCGG) c.2687+124_2687+125insGGGGGGGGCGG (n.2687+124_2687+125insGGGGGGGGCGG) c.*706+124_*706+125insGGGGGGGGCGG (n.*706+124_*706+125insGGGGGGGGCGG) c.2927+124_2927+125insGGGGGGGGCGG (n.2927+124_2927+125insGGGGGGGGCGG) c.2501+124_2501+125insGGGGGGGGCGG (n.2501+124_2501+125insGGGGGGGGCGG) c.2525+124_2525+125insGGGGGGGGCGG (n.2525+124_2525+125insGGGGGGGGCGG) n.2656+124_2656+125insGGGGGGGGCGG c.2921+124_2921+125insGGGGGGGGCGG (n.2921+124_2921+125insGGGGGGGGCGG) n.3101+124_3101+125insGGGGGGGGCGG n.3081+124_3081+125insGGGGGGGGCGG c.2573+124_2573+125insGGGGGGGGCGG (n.2573+124_2573+125insGGGGGGGGCGG) n.3066+124_3066+125insGGGGGGGGCGG | gnomAD v4 |
20 | g.3228135_3228136insGCCCCCCCCCC | CA2651690959 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGGCG (n.2558+124_2558+125insGGGGGGGGGCG) c.2489+124_2489+125insGGGGGGGGGCG (n.2489+124_2489+125insGGGGGGGGGCG) c.2357+124_2357+125insGGGGGGGGGCG (n.2357+124_2357+125insGGGGGGGGGCG) c.2444+124_2444+125insGGGGGGGGGCG (n.2444+124_2444+125insGGGGGGGGGCG) c.2606+124_2606+125insGGGGGGGGGCG (n.2606+124_2606+125insGGGGGGGGGCG) c.2687+124_2687+125insGGGGGGGGGCG (n.2687+124_2687+125insGGGGGGGGGCG) c.*706+124_*706+125insGGGGGGGGGCG (n.*706+124_*706+125insGGGGGGGGGCG) c.2927+124_2927+125insGGGGGGGGGCG (n.2927+124_2927+125insGGGGGGGGGCG) c.2501+124_2501+125insGGGGGGGGGCG (n.2501+124_2501+125insGGGGGGGGGCG) c.2525+124_2525+125insGGGGGGGGGCG (n.2525+124_2525+125insGGGGGGGGGCG) n.2656+124_2656+125insGGGGGGGGGCG c.2921+124_2921+125insGGGGGGGGGCG (n.2921+124_2921+125insGGGGGGGGGCG) n.3101+124_3101+125insGGGGGGGGGCG n.3081+124_3081+125insGGGGGGGGGCG c.2573+124_2573+125insGGGGGGGGGCG (n.2573+124_2573+125insGGGGGGGGGCG) n.3066+124_3066+125insGGGGGGGGGCG | gnomAD v4 |
20 | g.3228135_3228136insGGCCCCCCCCC | CA2651690962 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGCCG (n.2558+124_2558+125insGGGGGGGGCCG) c.2489+124_2489+125insGGGGGGGGCCG (n.2489+124_2489+125insGGGGGGGGCCG) c.2357+124_2357+125insGGGGGGGGCCG (n.2357+124_2357+125insGGGGGGGGCCG) c.2444+124_2444+125insGGGGGGGGCCG (n.2444+124_2444+125insGGGGGGGGCCG) c.2606+124_2606+125insGGGGGGGGCCG (n.2606+124_2606+125insGGGGGGGGCCG) c.2687+124_2687+125insGGGGGGGGCCG (n.2687+124_2687+125insGGGGGGGGCCG) c.*706+124_*706+125insGGGGGGGGCCG (n.*706+124_*706+125insGGGGGGGGCCG) c.2927+124_2927+125insGGGGGGGGCCG (n.2927+124_2927+125insGGGGGGGGCCG) c.2501+124_2501+125insGGGGGGGGCCG (n.2501+124_2501+125insGGGGGGGGCCG) c.2525+124_2525+125insGGGGGGGGCCG (n.2525+124_2525+125insGGGGGGGGCCG) n.2656+124_2656+125insGGGGGGGGCCG c.2921+124_2921+125insGGGGGGGGCCG (n.2921+124_2921+125insGGGGGGGGCCG) n.3101+124_3101+125insGGGGGGGGCCG n.3081+124_3081+125insGGGGGGGGCCG c.2573+124_2573+125insGGGGGGGGCCG (n.2573+124_2573+125insGGGGGGGGCCG) n.3066+124_3066+125insGGGGGGGGCCG | gnomAD v4 |
20 | g.3228135_3228136insCGCCCCCCCCCC | CA2651690968 | SLC4A11 | c.2558+124_2558+125insGGGGGGGGGCGG (n.2558+124_2558+125insGGGGGGGGGCGG) c.2489+124_2489+125insGGGGGGGGGCGG (n.2489+124_2489+125insGGGGGGGGGCGG) c.2357+124_2357+125insGGGGGGGGGCGG (n.2357+124_2357+125insGGGGGGGGGCGG) c.2444+124_2444+125insGGGGGGGGGCGG (n.2444+124_2444+125insGGGGGGGGGCGG) c.2606+124_2606+125insGGGGGGGGGCGG (n.2606+124_2606+125insGGGGGGGGGCGG) c.2687+124_2687+125insGGGGGGGGGCGG (n.2687+124_2687+125insGGGGGGGGGCGG) c.*706+124_*706+125insGGGGGGGGGCGG (n.*706+124_*706+125insGGGGGGGGGCGG) c.2927+124_2927+125insGGGGGGGGGCGG (n.2927+124_2927+125insGGGGGGGGGCGG) c.2501+124_2501+125insGGGGGGGGGCGG (n.2501+124_2501+125insGGGGGGGGGCGG) c.2525+124_2525+125insGGGGGGGGGCGG (n.2525+124_2525+125insGGGGGGGGGCGG) n.2656+124_2656+125insGGGGGGGGGCGG c.2921+124_2921+125insGGGGGGGGGCGG (n.2921+124_2921+125insGGGGGGGGGCGG) n.3101+124_3101+125insGGGGGGGGGCGG n.3081+124_3081+125insGGGGGGGGGCGG c.2573+124_2573+125insGGGGGGGGGCGG (n.2573+124_2573+125insGGGGGGGGGCGG) n.3066+124_3066+125insGGGGGGGGGCGG | gnomAD v4 |
20 | g.3228135dup | CA2651690970 | SLC4A11 | c.2558+124dup (n.2558+124dup) c.2489+124dup (n.2489+124dup) c.2357+124dup (n.2357+124dup) c.2444+124dup (n.2444+124dup) c.2606+124dup (n.2606+124dup) c.2687+124dup (n.2687+124dup) c.*706+124dup (n.*706+124dup) c.2927+124dup (n.2927+124dup) c.2501+124dup (n.2501+124dup) c.2525+124dup (n.2525+124dup) n.2656+124dup c.2921+124dup (n.2921+124dup) n.3101+124dup n.3081+124dup c.2573+124dup (n.2573+124dup) n.3066+124dup | gnomAD v4 |
20 | g.3228136_3228137del | CA2651690957 | SLC4A11 | c.2558+123_2558+124del (n.2558+123_2558+124del) c.2489+123_2489+124del (n.2489+123_2489+124del) c.2357+123_2357+124del (n.2357+123_2357+124del) c.2444+123_2444+124del (n.2444+123_2444+124del) c.2606+123_2606+124del (n.2606+123_2606+124del) c.2687+123_2687+124del (n.2687+123_2687+124del) c.*706+123_*706+124del (n.*706+123_*706+124del) c.2927+123_2927+124del (n.2927+123_2927+124del) c.2501+123_2501+124del (n.2501+123_2501+124del) c.2525+123_2525+124del (n.2525+123_2525+124del) n.2656+123_2656+124del c.2921+123_2921+124del (n.2921+123_2921+124del) n.3101+123_3101+124del n.3081+123_3081+124del c.2573+123_2573+124del (n.2573+123_2573+124del) n.3066+123_3066+124del | gnomAD v4 |
20 | g.3228136_3228138del | CA2651690964 | SLC4A11 | c.2558+122_2558+124del (n.2558+122_2558+124del) c.2489+122_2489+124del (n.2489+122_2489+124del) c.2357+122_2357+124del (n.2357+122_2357+124del) c.2444+122_2444+124del (n.2444+122_2444+124del) c.2606+122_2606+124del (n.2606+122_2606+124del) c.2687+122_2687+124del (n.2687+122_2687+124del) c.*706+122_*706+124del (n.*706+122_*706+124del) c.2927+122_2927+124del (n.2927+122_2927+124del) c.2501+122_2501+124del (n.2501+122_2501+124del) c.2525+122_2525+124del (n.2525+122_2525+124del) n.2656+122_2656+124del c.2921+122_2921+124del (n.2921+122_2921+124del) n.3101+122_3101+124del n.3081+122_3081+124del c.2573+122_2573+124del (n.2573+122_2573+124del) n.3066+122_3066+124del | gnomAD v4 |
20 | g.3228136_3228147del | CA2651690965 | SLC4A11 | c.2558+113_2558+124del (n.2558+113_2558+124del) c.2489+113_2489+124del (n.2489+113_2489+124del) c.2357+113_2357+124del (n.2357+113_2357+124del) c.2444+113_2444+124del (n.2444+113_2444+124del) c.2606+113_2606+124del (n.2606+113_2606+124del) c.2687+113_2687+124del (n.2687+113_2687+124del) c.*706+113_*706+124del (n.*706+113_*706+124del) c.2927+113_2927+124del (n.2927+113_2927+124del) c.2501+113_2501+124del (n.2501+113_2501+124del) c.2525+113_2525+124del (n.2525+113_2525+124del) n.2656+113_2656+124del c.2921+113_2921+124del (n.2921+113_2921+124del) n.3101+113_3101+124del n.3081+113_3081+124del c.2573+113_2573+124del (n.2573+113_2573+124del) n.3066+113_3066+124del | gnomAD v4 |
20 | g.3228136_3228148del | CA2651690966 | SLC4A11 | c.2558+112_2558+124del (n.2558+112_2558+124del) c.2489+112_2489+124del (n.2489+112_2489+124del) c.2357+112_2357+124del (n.2357+112_2357+124del) c.2444+112_2444+124del (n.2444+112_2444+124del) c.2606+112_2606+124del (n.2606+112_2606+124del) c.2687+112_2687+124del (n.2687+112_2687+124del) c.*706+112_*706+124del (n.*706+112_*706+124del) c.2927+112_2927+124del (n.2927+112_2927+124del) c.2501+112_2501+124del (n.2501+112_2501+124del) c.2525+112_2525+124del (n.2525+112_2525+124del) n.2656+112_2656+124del c.2921+112_2921+124del (n.2921+112_2921+124del) n.3101+112_3101+124del n.3081+112_3081+124del c.2573+112_2573+124del (n.2573+112_2573+124del) n.3066+112_3066+124del | gnomAD v4 |
20 | g.3228135_3228136insG | CA2651690993 | SLC4A11 | c.2558+123_2558+124insC (n.2558+123_2558+124insC) c.2489+123_2489+124insC (n.2489+123_2489+124insC) c.2357+123_2357+124insC (n.2357+123_2357+124insC) c.2444+123_2444+124insC (n.2444+123_2444+124insC) c.2606+123_2606+124insC (n.2606+123_2606+124insC) c.2687+123_2687+124insC (n.2687+123_2687+124insC) c.*706+123_*706+124insC (n.*706+123_*706+124insC) c.2927+123_2927+124insC (n.2927+123_2927+124insC) c.2501+123_2501+124insC (n.2501+123_2501+124insC) c.2525+123_2525+124insC (n.2525+123_2525+124insC) n.2656+123_2656+124insC c.2921+123_2921+124insC (n.2921+123_2921+124insC) n.3101+123_3101+124insC n.3081+123_3081+124insC c.2573+123_2573+124insC (n.2573+123_2573+124insC) n.3066+123_3066+124insC | gnomAD v4 |
20 | g.3228135_3228136insT | CA2651690994 | SLC4A11 | c.2558+123_2558+124insA (n.2558+123_2558+124insA) c.2489+123_2489+124insA (n.2489+123_2489+124insA) c.2357+123_2357+124insA (n.2357+123_2357+124insA) c.2444+123_2444+124insA (n.2444+123_2444+124insA) c.2606+123_2606+124insA (n.2606+123_2606+124insA) c.2687+123_2687+124insA (n.2687+123_2687+124insA) c.*706+123_*706+124insA (n.*706+123_*706+124insA) c.2927+123_2927+124insA (n.2927+123_2927+124insA) c.2501+123_2501+124insA (n.2501+123_2501+124insA) c.2525+123_2525+124insA (n.2525+123_2525+124insA) n.2656+123_2656+124insA c.2921+123_2921+124insA (n.2921+123_2921+124insA) n.3101+123_3101+124insA n.3081+123_3081+124insA c.2573+123_2573+124insA (n.2573+123_2573+124insA) n.3066+123_3066+124insA | gnomAD v4 |
20 | g.3228135_3228136insCG | CA2651690992 | SLC4A11 | c.2558+123_2558+124insCG (n.2558+123_2558+124insCG) c.2489+123_2489+124insCG (n.2489+123_2489+124insCG) c.2357+123_2357+124insCG (n.2357+123_2357+124insCG) c.2444+123_2444+124insCG (n.2444+123_2444+124insCG) c.2606+123_2606+124insCG (n.2606+123_2606+124insCG) c.2687+123_2687+124insCG (n.2687+123_2687+124insCG) c.*706+123_*706+124insCG (n.*706+123_*706+124insCG) c.2927+123_2927+124insCG (n.2927+123_2927+124insCG) c.2501+123_2501+124insCG (n.2501+123_2501+124insCG) c.2525+123_2525+124insCG (n.2525+123_2525+124insCG) n.2656+123_2656+124insCG c.2921+123_2921+124insCG (n.2921+123_2921+124insCG) n.3101+123_3101+124insCG n.3081+123_3081+124insCG c.2573+123_2573+124insCG (n.2573+123_2573+124insCG) n.3066+123_3066+124insCG | gnomAD v4 |
20 | g.3228135_3228136insGG | CA2651690988 | SLC4A11 | c.2558+123_2558+124insCC (n.2558+123_2558+124insCC) c.2489+123_2489+124insCC (n.2489+123_2489+124insCC) c.2357+123_2357+124insCC (n.2357+123_2357+124insCC) c.2444+123_2444+124insCC (n.2444+123_2444+124insCC) c.2606+123_2606+124insCC (n.2606+123_2606+124insCC) c.2687+123_2687+124insCC (n.2687+123_2687+124insCC) c.*706+123_*706+124insCC (n.*706+123_*706+124insCC) c.2927+123_2927+124insCC (n.2927+123_2927+124insCC) c.2501+123_2501+124insCC (n.2501+123_2501+124insCC) c.2525+123_2525+124insCC (n.2525+123_2525+124insCC) n.2656+123_2656+124insCC c.2921+123_2921+124insCC (n.2921+123_2921+124insCC) n.3101+123_3101+124insCC n.3081+123_3081+124insCC c.2573+123_2573+124insCC (n.2573+123_2573+124insCC) n.3066+123_3066+124insCC | gnomAD v4 |
20 | g.3228135_3228136insTG | CA2651690987 | SLC4A11 | c.2558+123_2558+124insCA (n.2558+123_2558+124insCA) c.2489+123_2489+124insCA (n.2489+123_2489+124insCA) c.2357+123_2357+124insCA (n.2357+123_2357+124insCA) c.2444+123_2444+124insCA (n.2444+123_2444+124insCA) c.2606+123_2606+124insCA (n.2606+123_2606+124insCA) c.2687+123_2687+124insCA (n.2687+123_2687+124insCA) c.*706+123_*706+124insCA (n.*706+123_*706+124insCA) c.2927+123_2927+124insCA (n.2927+123_2927+124insCA) c.2501+123_2501+124insCA (n.2501+123_2501+124insCA) c.2525+123_2525+124insCA (n.2525+123_2525+124insCA) n.2656+123_2656+124insCA c.2921+123_2921+124insCA (n.2921+123_2921+124insCA) n.3101+123_3101+124insCA n.3081+123_3081+124insCA c.2573+123_2573+124insCA (n.2573+123_2573+124insCA) n.3066+123_3066+124insCA | gnomAD v4 |
20 | g.3228135_3228136insCCG | CA2651690991 | SLC4A11 | c.2558+123_2558+124insCGG (n.2558+123_2558+124insCGG) c.2489+123_2489+124insCGG (n.2489+123_2489+124insCGG) c.2357+123_2357+124insCGG (n.2357+123_2357+124insCGG) c.2444+123_2444+124insCGG (n.2444+123_2444+124insCGG) c.2606+123_2606+124insCGG (n.2606+123_2606+124insCGG) c.2687+123_2687+124insCGG (n.2687+123_2687+124insCGG) c.*706+123_*706+124insCGG (n.*706+123_*706+124insCGG) c.2927+123_2927+124insCGG (n.2927+123_2927+124insCGG) c.2501+123_2501+124insCGG (n.2501+123_2501+124insCGG) c.2525+123_2525+124insCGG (n.2525+123_2525+124insCGG) n.2656+123_2656+124insCGG c.2921+123_2921+124insCGG (n.2921+123_2921+124insCGG) n.3101+123_3101+124insCGG n.3081+123_3081+124insCGG c.2573+123_2573+124insCGG (n.2573+123_2573+124insCGG) n.3066+123_3066+124insCGG | gnomAD v4 |
20 | g.3228135_3228136insGGG | CA2651690986 | SLC4A11 | c.2558+123_2558+124insCCC (n.2558+123_2558+124insCCC) c.2489+123_2489+124insCCC (n.2489+123_2489+124insCCC) c.2357+123_2357+124insCCC (n.2357+123_2357+124insCCC) c.2444+123_2444+124insCCC (n.2444+123_2444+124insCCC) c.2606+123_2606+124insCCC (n.2606+123_2606+124insCCC) c.2687+123_2687+124insCCC (n.2687+123_2687+124insCCC) c.*706+123_*706+124insCCC (n.*706+123_*706+124insCCC) c.2927+123_2927+124insCCC (n.2927+123_2927+124insCCC) c.2501+123_2501+124insCCC (n.2501+123_2501+124insCCC) c.2525+123_2525+124insCCC (n.2525+123_2525+124insCCC) n.2656+123_2656+124insCCC c.2921+123_2921+124insCCC (n.2921+123_2921+124insCCC) n.3101+123_3101+124insCCC n.3081+123_3081+124insCCC c.2573+123_2573+124insCCC (n.2573+123_2573+124insCCC) n.3066+123_3066+124insCCC | gnomAD v4 |
20 | g.3228135_3228136insCCCCCCCCCCA | CA2651690990 | SLC4A11 | c.2558+123_2558+124insTGGGGGGGGGG (n.2558+123_2558+124insTGGGGGGGGGG) c.2489+123_2489+124insTGGGGGGGGGG (n.2489+123_2489+124insTGGGGGGGGGG) c.2357+123_2357+124insTGGGGGGGGGG (n.2357+123_2357+124insTGGGGGGGGGG) c.2444+123_2444+124insTGGGGGGGGGG (n.2444+123_2444+124insTGGGGGGGGGG) c.2606+123_2606+124insTGGGGGGGGGG (n.2606+123_2606+124insTGGGGGGGGGG) c.2687+123_2687+124insTGGGGGGGGGG (n.2687+123_2687+124insTGGGGGGGGGG) c.*706+123_*706+124insTGGGGGGGGGG (n.*706+123_*706+124insTGGGGGGGGGG) c.2927+123_2927+124insTGGGGGGGGGG (n.2927+123_2927+124insTGGGGGGGGGG) c.2501+123_2501+124insTGGGGGGGGGG (n.2501+123_2501+124insTGGGGGGGGGG) c.2525+123_2525+124insTGGGGGGGGGG (n.2525+123_2525+124insTGGGGGGGGGG) n.2656+123_2656+124insTGGGGGGGGGG c.2921+123_2921+124insTGGGGGGGGGG (n.2921+123_2921+124insTGGGGGGGGGG) n.3101+123_3101+124insTGGGGGGGGGG n.3081+123_3081+124insTGGGGGGGGGG c.2573+123_2573+124insTGGGGGGGGGG (n.2573+123_2573+124insTGGGGGGGGGG) n.3066+123_3066+124insTGGGGGGGGGG | gnomAD v4 |
20 | g.3228136del | CA2651690985 | SLC4A11 | c.2558+123del (n.2558+123del) c.2489+123del (n.2489+123del) c.2357+123del (n.2357+123del) c.2444+123del (n.2444+123del) c.2606+123del (n.2606+123del) c.2687+123del (n.2687+123del) c.*706+123del (n.*706+123del) c.2927+123del (n.2927+123del) c.2501+123del (n.2501+123del) c.2525+123del (n.2525+123del) n.2656+123del c.2921+123del (n.2921+123del) n.3101+123del n.3081+123del c.2573+123del (n.2573+123del) n.3066+123del | gnomAD v4 |
20 | g.3228136A>C | CA1014849472 | SLC4A11 | c.2558+123T>G (n.2558+123T>G) c.2489+123T>G (n.2489+123T>G) c.2357+123T>G (n.2357+123T>G) c.2444+123T>G (n.2444+123T>G) c.2606+123T>G (n.2606+123T>G) c.2687+123T>G (n.2687+123T>G) c.*706+123T>G (n.*706+123T>G) c.2927+123T>G (n.2927+123T>G) c.2501+123T>G (n.2501+123T>G) c.2525+123T>G (n.2525+123T>G) n.2656+123T>G c.2921+123T>G (n.2921+123T>G) n.3101+123T>G n.3081+123T>G c.2573+123T>G (n.2573+123T>G) n.3066+123T>G | gnomAD v3 gnomAD v4 |
20 | g.3228136A>G | CA2651690982 | SLC4A11 | c.2558+123T>C (n.2558+123T>C) c.2489+123T>C (n.2489+123T>C) c.2357+123T>C (n.2357+123T>C) c.2444+123T>C (n.2444+123T>C) c.2606+123T>C (n.2606+123T>C) c.2687+123T>C (n.2687+123T>C) c.*706+123T>C (n.*706+123T>C) c.2927+123T>C (n.2927+123T>C) c.2501+123T>C (n.2501+123T>C) c.2525+123T>C (n.2525+123T>C) n.2656+123T>C c.2921+123T>C (n.2921+123T>C) n.3101+123T>C n.3081+123T>C c.2573+123T>C (n.2573+123T>C) n.3066+123T>C | gnomAD v4 |
20 | g.3228136A>T | CA2651690983 | SLC4A11 | c.2558+123T>A (n.2558+123T>A) c.2489+123T>A (n.2489+123T>A) c.2357+123T>A (n.2357+123T>A) c.2444+123T>A (n.2444+123T>A) c.2606+123T>A (n.2606+123T>A) c.2687+123T>A (n.2687+123T>A) c.*706+123T>A (n.*706+123T>A) c.2927+123T>A (n.2927+123T>A) c.2501+123T>A (n.2501+123T>A) c.2525+123T>A (n.2525+123T>A) n.2656+123T>A c.2921+123T>A (n.2921+123T>A) n.3101+123T>A n.3081+123T>A c.2573+123T>A (n.2573+123T>A) n.3066+123T>A | gnomAD v4 |
20 | g.3228136dup | CA2651690989 | SLC4A11 | c.2558+123dup (n.2558+123dup) c.2489+123dup (n.2489+123dup) c.2357+123dup (n.2357+123dup) c.2444+123dup (n.2444+123dup) c.2606+123dup (n.2606+123dup) c.2687+123dup (n.2687+123dup) c.*706+123dup (n.*706+123dup) c.2927+123dup (n.2927+123dup) c.2501+123dup (n.2501+123dup) c.2525+123dup (n.2525+123dup) n.2656+123dup c.2921+123dup (n.2921+123dup) n.3101+123dup n.3081+123dup c.2573+123dup (n.2573+123dup) n.3066+123dup | gnomAD v4 |
20 | g.3228136_3228140del | CA2651690984 | SLC4A11 | c.2558+119_2558+123del (n.2558+119_2558+123del) c.2489+119_2489+123del (n.2489+119_2489+123del) c.2357+119_2357+123del (n.2357+119_2357+123del) c.2444+119_2444+123del (n.2444+119_2444+123del) c.2606+119_2606+123del (n.2606+119_2606+123del) c.2687+119_2687+123del (n.2687+119_2687+123del) c.*706+119_*706+123del (n.*706+119_*706+123del) c.2927+119_2927+123del (n.2927+119_2927+123del) c.2501+119_2501+123del (n.2501+119_2501+123del) c.2525+119_2525+123del (n.2525+119_2525+123del) n.2656+119_2656+123del c.2921+119_2921+123del (n.2921+119_2921+123del) n.3101+119_3101+123del n.3081+119_3081+123del c.2573+119_2573+123del (n.2573+119_2573+123del) n.3066+119_3066+123del | gnomAD v4 |
20 | g.3228136_3228137insG | CA2651691011 | SLC4A11 | c.2558+122_2558+123insC (n.2558+122_2558+123insC) c.2489+122_2489+123insC (n.2489+122_2489+123insC) c.2357+122_2357+123insC (n.2357+122_2357+123insC) c.2444+122_2444+123insC (n.2444+122_2444+123insC) c.2606+122_2606+123insC (n.2606+122_2606+123insC) c.2687+122_2687+123insC (n.2687+122_2687+123insC) c.*706+122_*706+123insC (n.*706+122_*706+123insC) c.2927+122_2927+123insC (n.2927+122_2927+123insC) c.2501+122_2501+123insC (n.2501+122_2501+123insC) c.2525+122_2525+123insC (n.2525+122_2525+123insC) n.2656+122_2656+123insC c.2921+122_2921+123insC (n.2921+122_2921+123insC) n.3101+122_3101+123insC n.3081+122_3081+123insC c.2573+122_2573+123insC (n.2573+122_2573+123insC) n.3066+122_3066+123insC | gnomAD v4 |
20 | g.3228136_3228137insAC | CA2651691005 | SLC4A11 | c.2558+122_2558+123insGT (n.2558+122_2558+123insGT) c.2489+122_2489+123insGT (n.2489+122_2489+123insGT) c.2357+122_2357+123insGT (n.2357+122_2357+123insGT) c.2444+122_2444+123insGT (n.2444+122_2444+123insGT) c.2606+122_2606+123insGT (n.2606+122_2606+123insGT) c.2687+122_2687+123insGT (n.2687+122_2687+123insGT) c.*706+122_*706+123insGT (n.*706+122_*706+123insGT) c.2927+122_2927+123insGT (n.2927+122_2927+123insGT) c.2501+122_2501+123insGT (n.2501+122_2501+123insGT) c.2525+122_2525+123insGT (n.2525+122_2525+123insGT) n.2656+122_2656+123insGT c.2921+122_2921+123insGT (n.2921+122_2921+123insGT) n.3101+122_3101+123insGT n.3081+122_3081+123insGT c.2573+122_2573+123insGT (n.2573+122_2573+123insGT) n.3066+122_3066+123insGT | gnomAD v4 |
20 | g.3228136_3228137insGC | CA2651691012 | SLC4A11 | c.2558+122_2558+123insGC (n.2558+122_2558+123insGC) c.2489+122_2489+123insGC (n.2489+122_2489+123insGC) c.2357+122_2357+123insGC (n.2357+122_2357+123insGC) c.2444+122_2444+123insGC (n.2444+122_2444+123insGC) c.2606+122_2606+123insGC (n.2606+122_2606+123insGC) c.2687+122_2687+123insGC (n.2687+122_2687+123insGC) c.*706+122_*706+123insGC (n.*706+122_*706+123insGC) c.2927+122_2927+123insGC (n.2927+122_2927+123insGC) c.2501+122_2501+123insGC (n.2501+122_2501+123insGC) c.2525+122_2525+123insGC (n.2525+122_2525+123insGC) n.2656+122_2656+123insGC c.2921+122_2921+123insGC (n.2921+122_2921+123insGC) n.3101+122_3101+123insGC n.3081+122_3081+123insGC c.2573+122_2573+123insGC (n.2573+122_2573+123insGC) n.3066+122_3066+123insGC | gnomAD v4 |
20 | g.3228136_3228137insGG | CA2651690998 | SLC4A11 | c.2558+122_2558+123insCC (n.2558+122_2558+123insCC) c.2489+122_2489+123insCC (n.2489+122_2489+123insCC) c.2357+122_2357+123insCC (n.2357+122_2357+123insCC) c.2444+122_2444+123insCC (n.2444+122_2444+123insCC) c.2606+122_2606+123insCC (n.2606+122_2606+123insCC) c.2687+122_2687+123insCC (n.2687+122_2687+123insCC) c.*706+122_*706+123insCC (n.*706+122_*706+123insCC) c.2927+122_2927+123insCC (n.2927+122_2927+123insCC) c.2501+122_2501+123insCC (n.2501+122_2501+123insCC) c.2525+122_2525+123insCC (n.2525+122_2525+123insCC) n.2656+122_2656+123insCC c.2921+122_2921+123insCC (n.2921+122_2921+123insCC) n.3101+122_3101+123insCC n.3081+122_3081+123insCC c.2573+122_2573+123insCC (n.2573+122_2573+123insCC) n.3066+122_3066+123insCC | gnomAD v4 |
20 | g.3228136_3228137insACC | CA2651691006 | SLC4A11 | c.2558+122_2558+123insGGT (n.2558+122_2558+123insGGT) c.2489+122_2489+123insGGT (n.2489+122_2489+123insGGT) c.2357+122_2357+123insGGT (n.2357+122_2357+123insGGT) c.2444+122_2444+123insGGT (n.2444+122_2444+123insGGT) c.2606+122_2606+123insGGT (n.2606+122_2606+123insGGT) c.2687+122_2687+123insGGT (n.2687+122_2687+123insGGT) c.*706+122_*706+123insGGT (n.*706+122_*706+123insGGT) c.2927+122_2927+123insGGT (n.2927+122_2927+123insGGT) c.2501+122_2501+123insGGT (n.2501+122_2501+123insGGT) c.2525+122_2525+123insGGT (n.2525+122_2525+123insGGT) n.2656+122_2656+123insGGT c.2921+122_2921+123insGGT (n.2921+122_2921+123insGGT) n.3101+122_3101+123insGGT n.3081+122_3081+123insGGT c.2573+122_2573+123insGGT (n.2573+122_2573+123insGGT) n.3066+122_3066+123insGGT | gnomAD v4 |
20 | g.3228136_3228137insGCC | CA2651691013 | SLC4A11 | c.2558+122_2558+123insGGC (n.2558+122_2558+123insGGC) c.2489+122_2489+123insGGC (n.2489+122_2489+123insGGC) c.2357+122_2357+123insGGC (n.2357+122_2357+123insGGC) c.2444+122_2444+123insGGC (n.2444+122_2444+123insGGC) c.2606+122_2606+123insGGC (n.2606+122_2606+123insGGC) c.2687+122_2687+123insGGC (n.2687+122_2687+123insGGC) c.*706+122_*706+123insGGC (n.*706+122_*706+123insGGC) c.2927+122_2927+123insGGC (n.2927+122_2927+123insGGC) c.2501+122_2501+123insGGC (n.2501+122_2501+123insGGC) c.2525+122_2525+123insGGC (n.2525+122_2525+123insGGC) n.2656+122_2656+123insGGC c.2921+122_2921+123insGGC (n.2921+122_2921+123insGGC) n.3101+122_3101+123insGGC n.3081+122_3081+123insGGC c.2573+122_2573+123insGGC (n.2573+122_2573+123insGGC) n.3066+122_3066+123insGGC | gnomAD v4 |
20 | g.3228136_3228137insGCCC | CA2651691003 | SLC4A11 | c.2558+122_2558+123insGGGC (n.2558+122_2558+123insGGGC) c.2489+122_2489+123insGGGC (n.2489+122_2489+123insGGGC) c.2357+122_2357+123insGGGC (n.2357+122_2357+123insGGGC) c.2444+122_2444+123insGGGC (n.2444+122_2444+123insGGGC) c.2606+122_2606+123insGGGC (n.2606+122_2606+123insGGGC) c.2687+122_2687+123insGGGC (n.2687+122_2687+123insGGGC) c.*706+122_*706+123insGGGC (n.*706+122_*706+123insGGGC) c.2927+122_2927+123insGGGC (n.2927+122_2927+123insGGGC) c.2501+122_2501+123insGGGC (n.2501+122_2501+123insGGGC) c.2525+122_2525+123insGGGC (n.2525+122_2525+123insGGGC) n.2656+122_2656+123insGGGC c.2921+122_2921+123insGGGC (n.2921+122_2921+123insGGGC) n.3101+122_3101+123insGGGC n.3081+122_3081+123insGGGC c.2573+122_2573+123insGGGC (n.2573+122_2573+123insGGGC) n.3066+122_3066+123insGGGC | gnomAD v4 |
20 | g.3228136_3228137insGGCC | CA2651690997 | SLC4A11 | c.2558+122_2558+123insGGCC (n.2558+122_2558+123insGGCC) c.2489+122_2489+123insGGCC (n.2489+122_2489+123insGGCC) c.2357+122_2357+123insGGCC (n.2357+122_2357+123insGGCC) c.2444+122_2444+123insGGCC (n.2444+122_2444+123insGGCC) c.2606+122_2606+123insGGCC (n.2606+122_2606+123insGGCC) c.2687+122_2687+123insGGCC (n.2687+122_2687+123insGGCC) c.*706+122_*706+123insGGCC (n.*706+122_*706+123insGGCC) c.2927+122_2927+123insGGCC (n.2927+122_2927+123insGGCC) c.2501+122_2501+123insGGCC (n.2501+122_2501+123insGGCC) c.2525+122_2525+123insGGCC (n.2525+122_2525+123insGGCC) n.2656+122_2656+123insGGCC c.2921+122_2921+123insGGCC (n.2921+122_2921+123insGGCC) n.3101+122_3101+123insGGCC n.3081+122_3081+123insGGCC c.2573+122_2573+123insGGCC (n.2573+122_2573+123insGGCC) n.3066+122_3066+123insGGCC | gnomAD v4 |
20 | g.3228136_3228137insGCCCC | CA2651691004 | SLC4A11 | c.2558+122_2558+123insGGGGC (n.2558+122_2558+123insGGGGC) c.2489+122_2489+123insGGGGC (n.2489+122_2489+123insGGGGC) c.2357+122_2357+123insGGGGC (n.2357+122_2357+123insGGGGC) c.2444+122_2444+123insGGGGC (n.2444+122_2444+123insGGGGC) c.2606+122_2606+123insGGGGC (n.2606+122_2606+123insGGGGC) c.2687+122_2687+123insGGGGC (n.2687+122_2687+123insGGGGC) c.*706+122_*706+123insGGGGC (n.*706+122_*706+123insGGGGC) c.2927+122_2927+123insGGGGC (n.2927+122_2927+123insGGGGC) c.2501+122_2501+123insGGGGC (n.2501+122_2501+123insGGGGC) c.2525+122_2525+123insGGGGC (n.2525+122_2525+123insGGGGC) n.2656+122_2656+123insGGGGC c.2921+122_2921+123insGGGGC (n.2921+122_2921+123insGGGGC) n.3101+122_3101+123insGGGGC n.3081+122_3081+123insGGGGC c.2573+122_2573+123insGGGGC (n.2573+122_2573+123insGGGGC) n.3066+122_3066+123insGGGGC | gnomAD v4 |
20 | g.3228136_3228137insGCCCCC | CA2651691002 | SLC4A11 | c.2558+122_2558+123insGGGGGC (n.2558+122_2558+123insGGGGGC) c.2489+122_2489+123insGGGGGC (n.2489+122_2489+123insGGGGGC) c.2357+122_2357+123insGGGGGC (n.2357+122_2357+123insGGGGGC) c.2444+122_2444+123insGGGGGC (n.2444+122_2444+123insGGGGGC) c.2606+122_2606+123insGGGGGC (n.2606+122_2606+123insGGGGGC) c.2687+122_2687+123insGGGGGC (n.2687+122_2687+123insGGGGGC) c.*706+122_*706+123insGGGGGC (n.*706+122_*706+123insGGGGGC) c.2927+122_2927+123insGGGGGC (n.2927+122_2927+123insGGGGGC) c.2501+122_2501+123insGGGGGC (n.2501+122_2501+123insGGGGGC) c.2525+122_2525+123insGGGGGC (n.2525+122_2525+123insGGGGGC) n.2656+122_2656+123insGGGGGC c.2921+122_2921+123insGGGGGC (n.2921+122_2921+123insGGGGGC) n.3101+122_3101+123insGGGGGC n.3081+122_3081+123insGGGGGC c.2573+122_2573+123insGGGGGC (n.2573+122_2573+123insGGGGGC) n.3066+122_3066+123insGGGGGC | gnomAD v4 |
20 | g.3228136_3228137insGCCCCCCCCC | CA2651691001 | SLC4A11 | c.2558+122_2558+123insGGGGGGGGGC (n.2558+122_2558+123insGGGGGGGGGC) c.2489+122_2489+123insGGGGGGGGGC (n.2489+122_2489+123insGGGGGGGGGC) c.2357+122_2357+123insGGGGGGGGGC (n.2357+122_2357+123insGGGGGGGGGC) c.2444+122_2444+123insGGGGGGGGGC (n.2444+122_2444+123insGGGGGGGGGC) c.2606+122_2606+123insGGGGGGGGGC (n.2606+122_2606+123insGGGGGGGGGC) c.2687+122_2687+123insGGGGGGGGGC (n.2687+122_2687+123insGGGGGGGGGC) c.*706+122_*706+123insGGGGGGGGGC (n.*706+122_*706+123insGGGGGGGGGC) c.2927+122_2927+123insGGGGGGGGGC (n.2927+122_2927+123insGGGGGGGGGC) c.2501+122_2501+123insGGGGGGGGGC (n.2501+122_2501+123insGGGGGGGGGC) c.2525+122_2525+123insGGGGGGGGGC (n.2525+122_2525+123insGGGGGGGGGC) n.2656+122_2656+123insGGGGGGGGGC c.2921+122_2921+123insGGGGGGGGGC (n.2921+122_2921+123insGGGGGGGGGC) n.3101+122_3101+123insGGGGGGGGGC n.3081+122_3081+123insGGGGGGGGGC c.2573+122_2573+123insGGGGGGGGGC (n.2573+122_2573+123insGGGGGGGGGC) n.3066+122_3066+123insGGGGGGGGGC | gnomAD v4 |
20 | g.3228136_3228137insGCCCCCCCCCC | CA2651691000 | SLC4A11 | c.2558+122_2558+123insGGGGGGGGGGC (n.2558+122_2558+123insGGGGGGGGGGC) c.2489+122_2489+123insGGGGGGGGGGC (n.2489+122_2489+123insGGGGGGGGGGC) c.2357+122_2357+123insGGGGGGGGGGC (n.2357+122_2357+123insGGGGGGGGGGC) c.2444+122_2444+123insGGGGGGGGGGC (n.2444+122_2444+123insGGGGGGGGGGC) c.2606+122_2606+123insGGGGGGGGGGC (n.2606+122_2606+123insGGGGGGGGGGC) c.2687+122_2687+123insGGGGGGGGGGC (n.2687+122_2687+123insGGGGGGGGGGC) c.*706+122_*706+123insGGGGGGGGGGC (n.*706+122_*706+123insGGGGGGGGGGC) c.2927+122_2927+123insGGGGGGGGGGC (n.2927+122_2927+123insGGGGGGGGGGC) c.2501+122_2501+123insGGGGGGGGGGC (n.2501+122_2501+123insGGGGGGGGGGC) c.2525+122_2525+123insGGGGGGGGGGC (n.2525+122_2525+123insGGGGGGGGGGC) n.2656+122_2656+123insGGGGGGGGGGC c.2921+122_2921+123insGGGGGGGGGGC (n.2921+122_2921+123insGGGGGGGGGGC) n.3101+122_3101+123insGGGGGGGGGGC n.3081+122_3081+123insGGGGGGGGGGC c.2573+122_2573+123insGGGGGGGGGGC (n.2573+122_2573+123insGGGGGGGGGGC) n.3066+122_3066+123insGGGGGGGGGGC | gnomAD v4 |
20 | g.3228136_3228137insGCCCCCCCCCCC | CA2651690999 | SLC4A11 | c.2558+122_2558+123insGGGGGGGGGGGC (n.2558+122_2558+123insGGGGGGGGGGGC) c.2489+122_2489+123insGGGGGGGGGGGC (n.2489+122_2489+123insGGGGGGGGGGGC) c.2357+122_2357+123insGGGGGGGGGGGC (n.2357+122_2357+123insGGGGGGGGGGGC) c.2444+122_2444+123insGGGGGGGGGGGC (n.2444+122_2444+123insGGGGGGGGGGGC) c.2606+122_2606+123insGGGGGGGGGGGC (n.2606+122_2606+123insGGGGGGGGGGGC) c.2687+122_2687+123insGGGGGGGGGGGC (n.2687+122_2687+123insGGGGGGGGGGGC) c.*706+122_*706+123insGGGGGGGGGGGC (n.*706+122_*706+123insGGGGGGGGGGGC) c.2927+122_2927+123insGGGGGGGGGGGC (n.2927+122_2927+123insGGGGGGGGGGGC) c.2501+122_2501+123insGGGGGGGGGGGC (n.2501+122_2501+123insGGGGGGGGGGGC) c.2525+122_2525+123insGGGGGGGGGGGC (n.2525+122_2525+123insGGGGGGGGGGGC) n.2656+122_2656+123insGGGGGGGGGGGC c.2921+122_2921+123insGGGGGGGGGGGC (n.2921+122_2921+123insGGGGGGGGGGGC) n.3101+122_3101+123insGGGGGGGGGGGC n.3081+122_3081+123insGGGGGGGGGGGC c.2573+122_2573+123insGGGGGGGGGGGC (n.2573+122_2573+123insGGGGGGGGGGGC) n.3066+122_3066+123insGGGGGGGGGGGC | gnomAD v4 |
20 | g.3228137C>A | CA2651690995 | SLC4A11 | c.2558+122G>T (n.2558+122G>T) c.2489+122G>T (n.2489+122G>T) c.2357+122G>T (n.2357+122G>T) c.2444+122G>T (n.2444+122G>T) c.2606+122G>T (n.2606+122G>T) c.2687+122G>T (n.2687+122G>T) c.*706+122G>T (n.*706+122G>T) c.2927+122G>T (n.2927+122G>T) c.2501+122G>T (n.2501+122G>T) c.2525+122G>T (n.2525+122G>T) n.2656+122G>T c.2921+122G>T (n.2921+122G>T) n.3101+122G>T n.3081+122G>T c.2573+122G>T (n.2573+122G>T) n.3066+122G>T | gnomAD v4 |
20 | g.3228137C>G | CA1014849474 | SLC4A11 | c.2558+122G>C (n.2558+122G>C) c.2489+122G>C (n.2489+122G>C) c.2357+122G>C (n.2357+122G>C) c.2444+122G>C (n.2444+122G>C) c.2606+122G>C (n.2606+122G>C) c.2687+122G>C (n.2687+122G>C) c.*706+122G>C (n.*706+122G>C) c.2927+122G>C (n.2927+122G>C) c.2501+122G>C (n.2501+122G>C) c.2525+122G>C (n.2525+122G>C) n.2656+122G>C c.2921+122G>C (n.2921+122G>C) n.3101+122G>C n.3081+122G>C c.2573+122G>C (n.2573+122G>C) n.3066+122G>C | gnomAD v3 gnomAD v4 |
20 | g.3228137C>T | CA2527959514 | SLC4A11 | c.2558+122G>A (n.2558+122G>A) c.2489+122G>A (n.2489+122G>A) c.2357+122G>A (n.2357+122G>A) c.2444+122G>A (n.2444+122G>A) c.2606+122G>A (n.2606+122G>A) c.2687+122G>A (n.2687+122G>A) c.*706+122G>A (n.*706+122G>A) c.2927+122G>A (n.2927+122G>A) c.2501+122G>A (n.2501+122G>A) c.2525+122G>A (n.2525+122G>A) n.2656+122G>A c.2921+122G>A (n.2921+122G>A) n.3101+122G>A n.3081+122G>A c.2573+122G>A (n.2573+122G>A) n.3066+122G>A | gnomAD v4 |
20 | g.3228137_3228139del | CA2651690996 | SLC4A11 | c.2558+120_2558+122del (n.2558+120_2558+122del) c.2489+120_2489+122del (n.2489+120_2489+122del) c.2357+120_2357+122del (n.2357+120_2357+122del) c.2444+120_2444+122del (n.2444+120_2444+122del) c.2606+120_2606+122del (n.2606+120_2606+122del) c.2687+120_2687+122del (n.2687+120_2687+122del) c.*706+120_*706+122del (n.*706+120_*706+122del) c.2927+120_2927+122del (n.2927+120_2927+122del) c.2501+120_2501+122del (n.2501+120_2501+122del) c.2525+120_2525+122del (n.2525+120_2525+122del) n.2656+120_2656+122del c.2921+120_2921+122del (n.2921+120_2921+122del) n.3101+120_3101+122del n.3081+120_3081+122del c.2573+120_2573+122del (n.2573+120_2573+122del) n.3066+120_3066+122del | gnomAD v4 |
20 | g.3228139_3228140insCCCCCC | CA2651691008 | SLC4A11 | c.2558+122_2558+123insGGGGGG (n.2558+122_2558+123insGGGGGG) c.2489+122_2489+123insGGGGGG (n.2489+122_2489+123insGGGGGG) c.2357+122_2357+123insGGGGGG (n.2357+122_2357+123insGGGGGG) c.2444+122_2444+123insGGGGGG (n.2444+122_2444+123insGGGGGG) c.2606+122_2606+123insGGGGGG (n.2606+122_2606+123insGGGGGG) c.2687+122_2687+123insGGGGGG (n.2687+122_2687+123insGGGGGG) c.*706+122_*706+123insGGGGGG (n.*706+122_*706+123insGGGGGG) c.2927+122_2927+123insGGGGGG (n.2927+122_2927+123insGGGGGG) c.2501+122_2501+123insGGGGGG (n.2501+122_2501+123insGGGGGG) c.2525+122_2525+123insGGGGGG (n.2525+122_2525+123insGGGGGG) n.2656+122_2656+123insGGGGGG c.2921+122_2921+123insGGGGGG (n.2921+122_2921+123insGGGGGG) n.3101+122_3101+123insGGGGGG n.3081+122_3081+123insGGGGGG c.2573+122_2573+123insGGGGGG (n.2573+122_2573+123insGGGGGG) n.3066+122_3066+123insGGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCC | CA2651691014 | SLC4A11 | c.2558+122_2558+123insGGGGGGG (n.2558+122_2558+123insGGGGGGG) c.2489+122_2489+123insGGGGGGG (n.2489+122_2489+123insGGGGGGG) c.2357+122_2357+123insGGGGGGG (n.2357+122_2357+123insGGGGGGG) c.2444+122_2444+123insGGGGGGG (n.2444+122_2444+123insGGGGGGG) c.2606+122_2606+123insGGGGGGG (n.2606+122_2606+123insGGGGGGG) c.2687+122_2687+123insGGGGGGG (n.2687+122_2687+123insGGGGGGG) c.*706+122_*706+123insGGGGGGG (n.*706+122_*706+123insGGGGGGG) c.2927+122_2927+123insGGGGGGG (n.2927+122_2927+123insGGGGGGG) c.2501+122_2501+123insGGGGGGG (n.2501+122_2501+123insGGGGGGG) c.2525+122_2525+123insGGGGGGG (n.2525+122_2525+123insGGGGGGG) n.2656+122_2656+123insGGGGGGG c.2921+122_2921+123insGGGGGGG (n.2921+122_2921+123insGGGGGGG) n.3101+122_3101+123insGGGGGGG n.3081+122_3081+123insGGGGGGG c.2573+122_2573+123insGGGGGGG (n.2573+122_2573+123insGGGGGGG) n.3066+122_3066+123insGGGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCCC | CA2651691009 | SLC4A11 | c.2558+122_2558+123insGGGGGGGG (n.2558+122_2558+123insGGGGGGGG) c.2489+122_2489+123insGGGGGGGG (n.2489+122_2489+123insGGGGGGGG) c.2357+122_2357+123insGGGGGGGG (n.2357+122_2357+123insGGGGGGGG) c.2444+122_2444+123insGGGGGGGG (n.2444+122_2444+123insGGGGGGGG) c.2606+122_2606+123insGGGGGGGG (n.2606+122_2606+123insGGGGGGGG) c.2687+122_2687+123insGGGGGGGG (n.2687+122_2687+123insGGGGGGGG) c.*706+122_*706+123insGGGGGGGG (n.*706+122_*706+123insGGGGGGGG) c.2927+122_2927+123insGGGGGGGG (n.2927+122_2927+123insGGGGGGGG) c.2501+122_2501+123insGGGGGGGG (n.2501+122_2501+123insGGGGGGGG) c.2525+122_2525+123insGGGGGGGG (n.2525+122_2525+123insGGGGGGGG) n.2656+122_2656+123insGGGGGGGG c.2921+122_2921+123insGGGGGGGG (n.2921+122_2921+123insGGGGGGGG) n.3101+122_3101+123insGGGGGGGG n.3081+122_3081+123insGGGGGGGG c.2573+122_2573+123insGGGGGGGG (n.2573+122_2573+123insGGGGGGGG) n.3066+122_3066+123insGGGGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCCCCC | CA2651691010 | SLC4A11 | c.2558+122_2558+123insGGGGGGGGGG (n.2558+122_2558+123insGGGGGGGGGG) c.2489+122_2489+123insGGGGGGGGGG (n.2489+122_2489+123insGGGGGGGGGG) c.2357+122_2357+123insGGGGGGGGGG (n.2357+122_2357+123insGGGGGGGGGG) c.2444+122_2444+123insGGGGGGGGGG (n.2444+122_2444+123insGGGGGGGGGG) c.2606+122_2606+123insGGGGGGGGGG (n.2606+122_2606+123insGGGGGGGGGG) c.2687+122_2687+123insGGGGGGGGGG (n.2687+122_2687+123insGGGGGGGGGG) c.*706+122_*706+123insGGGGGGGGGG (n.*706+122_*706+123insGGGGGGGGGG) c.2927+122_2927+123insGGGGGGGGGG (n.2927+122_2927+123insGGGGGGGGGG) c.2501+122_2501+123insGGGGGGGGGG (n.2501+122_2501+123insGGGGGGGGGG) c.2525+122_2525+123insGGGGGGGGGG (n.2525+122_2525+123insGGGGGGGGGG) n.2656+122_2656+123insGGGGGGGGGG c.2921+122_2921+123insGGGGGGGGGG (n.2921+122_2921+123insGGGGGGGGGG) n.3101+122_3101+123insGGGGGGGGGG n.3081+122_3081+123insGGGGGGGGGG c.2573+122_2573+123insGGGGGGGGGG (n.2573+122_2573+123insGGGGGGGGGG) n.3066+122_3066+123insGGGGGGGGGG | gnomAD v4 |
20 | g.3228139dup | CA1014849473 | SLC4A11 | c.2558+122dup (n.2558+122dup) c.2489+122dup (n.2489+122dup) c.2357+122dup (n.2357+122dup) c.2444+122dup (n.2444+122dup) c.2606+122dup (n.2606+122dup) c.2687+122dup (n.2687+122dup) c.*706+122dup (n.*706+122dup) c.2927+122dup (n.2927+122dup) c.2501+122dup (n.2501+122dup) c.2525+122dup (n.2525+122dup) n.2656+122dup c.2921+122dup (n.2921+122dup) n.3101+122dup n.3081+122dup c.2573+122dup (n.2573+122dup) n.3066+122dup | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228138_3228139dup | CA2651691007 | SLC4A11 | c.2558+121_2558+122dup (n.2558+121_2558+122dup) c.2489+121_2489+122dup (n.2489+121_2489+122dup) c.2357+121_2357+122dup (n.2357+121_2357+122dup) c.2444+121_2444+122dup (n.2444+121_2444+122dup) c.2606+121_2606+122dup (n.2606+121_2606+122dup) c.2687+121_2687+122dup (n.2687+121_2687+122dup) c.*706+121_*706+122dup (n.*706+121_*706+122dup) c.2927+121_2927+122dup (n.2927+121_2927+122dup) c.2501+121_2501+122dup (n.2501+121_2501+122dup) c.2525+121_2525+122dup (n.2525+121_2525+122dup) n.2656+121_2656+122dup c.2921+121_2921+122dup (n.2921+121_2921+122dup) n.3101+121_3101+122dup n.3081+121_3081+122dup c.2573+121_2573+122dup (n.2573+121_2573+122dup) n.3066+121_3066+122dup | gnomAD v4 |
20 | g.3228137_3228138insG | CA2651691015 | SLC4A11 | c.2558+121_2558+122insC (n.2558+121_2558+122insC) c.2489+121_2489+122insC (n.2489+121_2489+122insC) c.2357+121_2357+122insC (n.2357+121_2357+122insC) c.2444+121_2444+122insC (n.2444+121_2444+122insC) c.2606+121_2606+122insC (n.2606+121_2606+122insC) c.2687+121_2687+122insC (n.2687+121_2687+122insC) c.*706+121_*706+122insC (n.*706+121_*706+122insC) c.2927+121_2927+122insC (n.2927+121_2927+122insC) c.2501+121_2501+122insC (n.2501+121_2501+122insC) c.2525+121_2525+122insC (n.2525+121_2525+122insC) n.2656+121_2656+122insC c.2921+121_2921+122insC (n.2921+121_2921+122insC) n.3101+121_3101+122insC n.3081+121_3081+122insC c.2573+121_2573+122insC (n.2573+121_2573+122insC) n.3066+121_3066+122insC | gnomAD v4 |
20 | g.3228138C>A | CA2651691016 | SLC4A11 | c.2558+121G>T (n.2558+121G>T) c.2489+121G>T (n.2489+121G>T) c.2357+121G>T (n.2357+121G>T) c.2444+121G>T (n.2444+121G>T) c.2606+121G>T (n.2606+121G>T) c.2687+121G>T (n.2687+121G>T) c.*706+121G>T (n.*706+121G>T) c.2927+121G>T (n.2927+121G>T) c.2501+121G>T (n.2501+121G>T) c.2525+121G>T (n.2525+121G>T) n.2656+121G>T c.2921+121G>T (n.2921+121G>T) n.3101+121G>T n.3081+121G>T c.2573+121G>T (n.2573+121G>T) n.3066+121G>T | gnomAD v4 |
20 | g.3228138C>G | CA2651691017 | SLC4A11 | c.2558+121G>C (n.2558+121G>C) c.2489+121G>C (n.2489+121G>C) c.2357+121G>C (n.2357+121G>C) c.2444+121G>C (n.2444+121G>C) c.2606+121G>C (n.2606+121G>C) c.2687+121G>C (n.2687+121G>C) c.*706+121G>C (n.*706+121G>C) c.2927+121G>C (n.2927+121G>C) c.2501+121G>C (n.2501+121G>C) c.2525+121G>C (n.2525+121G>C) n.2656+121G>C c.2921+121G>C (n.2921+121G>C) n.3101+121G>C n.3081+121G>C c.2573+121G>C (n.2573+121G>C) n.3066+121G>C | gnomAD v4 |
20 | g.3228138C>T | CA2651691018 | SLC4A11 | c.2558+121G>A (n.2558+121G>A) c.2489+121G>A (n.2489+121G>A) c.2357+121G>A (n.2357+121G>A) c.2444+121G>A (n.2444+121G>A) c.2606+121G>A (n.2606+121G>A) c.2687+121G>A (n.2687+121G>A) c.*706+121G>A (n.*706+121G>A) c.2927+121G>A (n.2927+121G>A) c.2501+121G>A (n.2501+121G>A) c.2525+121G>A (n.2525+121G>A) n.2656+121G>A c.2921+121G>A (n.2921+121G>A) n.3101+121G>A n.3081+121G>A c.2573+121G>A (n.2573+121G>A) n.3066+121G>A | gnomAD v4 |
20 | g.3228138_3228139insGG | CA2651691020 | SLC4A11 | c.2558+120_2558+121insCC (n.2558+120_2558+121insCC) c.2489+120_2489+121insCC (n.2489+120_2489+121insCC) c.2357+120_2357+121insCC (n.2357+120_2357+121insCC) c.2444+120_2444+121insCC (n.2444+120_2444+121insCC) c.2606+120_2606+121insCC (n.2606+120_2606+121insCC) c.2687+120_2687+121insCC (n.2687+120_2687+121insCC) c.*706+120_*706+121insCC (n.*706+120_*706+121insCC) c.2927+120_2927+121insCC (n.2927+120_2927+121insCC) c.2501+120_2501+121insCC (n.2501+120_2501+121insCC) c.2525+120_2525+121insCC (n.2525+120_2525+121insCC) n.2656+120_2656+121insCC c.2921+120_2921+121insCC (n.2921+120_2921+121insCC) n.3101+120_3101+121insCC n.3081+120_3081+121insCC c.2573+120_2573+121insCC (n.2573+120_2573+121insCC) n.3066+120_3066+121insCC | gnomAD v4 |
20 | g.3228139C>A | CA2651691019 | SLC4A11 | c.2558+120G>T (n.2558+120G>T) c.2489+120G>T (n.2489+120G>T) c.2357+120G>T (n.2357+120G>T) c.2444+120G>T (n.2444+120G>T) c.2606+120G>T (n.2606+120G>T) c.2687+120G>T (n.2687+120G>T) c.*706+120G>T (n.*706+120G>T) c.2927+120G>T (n.2927+120G>T) c.2501+120G>T (n.2501+120G>T) c.2525+120G>T (n.2525+120G>T) n.2656+120G>T c.2921+120G>T (n.2921+120G>T) n.3101+120G>T n.3081+120G>T c.2573+120G>T (n.2573+120G>T) n.3066+120G>T | gnomAD v4 |
20 | g.3228139C>T | CA2564188482 | SLC4A11 | c.2558+120G>A (n.2558+120G>A) c.2489+120G>A (n.2489+120G>A) c.2357+120G>A (n.2357+120G>A) c.2444+120G>A (n.2444+120G>A) c.2606+120G>A (n.2606+120G>A) c.2687+120G>A (n.2687+120G>A) c.*706+120G>A (n.*706+120G>A) c.2927+120G>A (n.2927+120G>A) c.2501+120G>A (n.2501+120G>A) c.2525+120G>A (n.2525+120G>A) n.2656+120G>A c.2921+120G>A (n.2921+120G>A) n.3101+120G>A n.3081+120G>A c.2573+120G>A (n.2573+120G>A) n.3066+120G>A | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCAC | CA2651691021 | SLC4A11 | c.2558+120_2558+121insTGGGGGGG (n.2558+120_2558+121insTGGGGGGG) c.2489+120_2489+121insTGGGGGGG (n.2489+120_2489+121insTGGGGGGG) c.2357+120_2357+121insTGGGGGGG (n.2357+120_2357+121insTGGGGGGG) c.2444+120_2444+121insTGGGGGGG (n.2444+120_2444+121insTGGGGGGG) c.2606+120_2606+121insTGGGGGGG (n.2606+120_2606+121insTGGGGGGG) c.2687+120_2687+121insTGGGGGGG (n.2687+120_2687+121insTGGGGGGG) c.*706+120_*706+121insTGGGGGGG (n.*706+120_*706+121insTGGGGGGG) c.2927+120_2927+121insTGGGGGGG (n.2927+120_2927+121insTGGGGGGG) c.2501+120_2501+121insTGGGGGGG (n.2501+120_2501+121insTGGGGGGG) c.2525+120_2525+121insTGGGGGGG (n.2525+120_2525+121insTGGGGGGG) n.2656+120_2656+121insTGGGGGGG c.2921+120_2921+121insTGGGGGGG (n.2921+120_2921+121insTGGGGGGG) n.3101+120_3101+121insTGGGGGGG n.3081+120_3081+121insTGGGGGGG c.2573+120_2573+121insTGGGGGGG (n.2573+120_2573+121insTGGGGGGG) n.3066+120_3066+121insTGGGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCA | CA2651691025 | SLC4A11 | c.2558+119_2558+120insTGGGGG (n.2558+119_2558+120insTGGGGG) c.2489+119_2489+120insTGGGGG (n.2489+119_2489+120insTGGGGG) c.2357+119_2357+120insTGGGGG (n.2357+119_2357+120insTGGGGG) c.2444+119_2444+120insTGGGGG (n.2444+119_2444+120insTGGGGG) c.2606+119_2606+120insTGGGGG (n.2606+119_2606+120insTGGGGG) c.2687+119_2687+120insTGGGGG (n.2687+119_2687+120insTGGGGG) c.*706+119_*706+120insTGGGGG (n.*706+119_*706+120insTGGGGG) c.2927+119_2927+120insTGGGGG (n.2927+119_2927+120insTGGGGG) c.2501+119_2501+120insTGGGGG (n.2501+119_2501+120insTGGGGG) c.2525+119_2525+120insTGGGGG (n.2525+119_2525+120insTGGGGG) n.2656+119_2656+120insTGGGGG c.2921+119_2921+120insTGGGGG (n.2921+119_2921+120insTGGGGG) n.3101+119_3101+120insTGGGGG n.3081+119_3081+120insTGGGGG c.2573+119_2573+120insTGGGGG (n.2573+119_2573+120insTGGGGG) n.3066+119_3066+120insTGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCAA | CA2651691026 | SLC4A11 | c.2558+119_2558+120insTTGGGGG (n.2558+119_2558+120insTTGGGGG) c.2489+119_2489+120insTTGGGGG (n.2489+119_2489+120insTTGGGGG) c.2357+119_2357+120insTTGGGGG (n.2357+119_2357+120insTTGGGGG) c.2444+119_2444+120insTTGGGGG (n.2444+119_2444+120insTTGGGGG) c.2606+119_2606+120insTTGGGGG (n.2606+119_2606+120insTTGGGGG) c.2687+119_2687+120insTTGGGGG (n.2687+119_2687+120insTTGGGGG) c.*706+119_*706+120insTTGGGGG (n.*706+119_*706+120insTTGGGGG) c.2927+119_2927+120insTTGGGGG (n.2927+119_2927+120insTTGGGGG) c.2501+119_2501+120insTTGGGGG (n.2501+119_2501+120insTTGGGGG) c.2525+119_2525+120insTTGGGGG (n.2525+119_2525+120insTTGGGGG) n.2656+119_2656+120insTTGGGGG c.2921+119_2921+120insTTGGGGG (n.2921+119_2921+120insTTGGGGG) n.3101+119_3101+120insTTGGGGG n.3081+119_3081+120insTTGGGGG c.2573+119_2573+120insTTGGGGG (n.2573+119_2573+120insTTGGGGG) n.3066+119_3066+120insTTGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCA | CA2651691024 | SLC4A11 | c.2558+119_2558+120insTGGGGGG (n.2558+119_2558+120insTGGGGGG) c.2489+119_2489+120insTGGGGGG (n.2489+119_2489+120insTGGGGGG) c.2357+119_2357+120insTGGGGGG (n.2357+119_2357+120insTGGGGGG) c.2444+119_2444+120insTGGGGGG (n.2444+119_2444+120insTGGGGGG) c.2606+119_2606+120insTGGGGGG (n.2606+119_2606+120insTGGGGGG) c.2687+119_2687+120insTGGGGGG (n.2687+119_2687+120insTGGGGGG) c.*706+119_*706+120insTGGGGGG (n.*706+119_*706+120insTGGGGGG) c.2927+119_2927+120insTGGGGGG (n.2927+119_2927+120insTGGGGGG) c.2501+119_2501+120insTGGGGGG (n.2501+119_2501+120insTGGGGGG) c.2525+119_2525+120insTGGGGGG (n.2525+119_2525+120insTGGGGGG) n.2656+119_2656+120insTGGGGGG c.2921+119_2921+120insTGGGGGG (n.2921+119_2921+120insTGGGGGG) n.3101+119_3101+120insTGGGGGG n.3081+119_3081+120insTGGGGGG c.2573+119_2573+120insTGGGGGG (n.2573+119_2573+120insTGGGGGG) n.3066+119_3066+120insTGGGGGG | gnomAD v4 |
20 | g.3228139_3228140insCCCCCCAA | CA2651691027 | SLC4A11 | c.2558+119_2558+120insTTGGGGGG (n.2558+119_2558+120insTTGGGGGG) c.2489+119_2489+120insTTGGGGGG (n.2489+119_2489+120insTTGGGGGG) c.2357+119_2357+120insTTGGGGGG (n.2357+119_2357+120insTTGGGGGG) c.2444+119_2444+120insTTGGGGGG (n.2444+119_2444+120insTTGGGGGG) c.2606+119_2606+120insTTGGGGGG (n.2606+119_2606+120insTTGGGGGG) c.2687+119_2687+120insTTGGGGGG (n.2687+119_2687+120insTTGGGGGG) c.*706+119_*706+120insTTGGGGGG (n.*706+119_*706+120insTTGGGGGG) c.2927+119_2927+120insTTGGGGGG (n.2927+119_2927+120insTTGGGGGG) c.2501+119_2501+120insTTGGGGGG (n.2501+119_2501+120insTTGGGGGG) c.2525+119_2525+120insTTGGGGGG (n.2525+119_2525+120insTTGGGGGG) n.2656+119_2656+120insTTGGGGGG c.2921+119_2921+120insTTGGGGGG (n.2921+119_2921+120insTTGGGGGG) n.3101+119_3101+120insTTGGGGGG n.3081+119_3081+120insTTGGGGGG c.2573+119_2573+120insTTGGGGGG (n.2573+119_2573+120insTTGGGGGG) n.3066+119_3066+120insTTGGGGGG | gnomAD v4 |
20 | g.3228140del | CA2651691023 | SLC4A11 | c.2558+119del (n.2558+119del) c.2489+119del (n.2489+119del) c.2357+119del (n.2357+119del) c.2444+119del (n.2444+119del) c.2606+119del (n.2606+119del) c.2687+119del (n.2687+119del) c.*706+119del (n.*706+119del) c.2927+119del (n.2927+119del) c.2501+119del (n.2501+119del) c.2525+119del (n.2525+119del) n.2656+119del c.2921+119del (n.2921+119del) n.3101+119del n.3081+119del c.2573+119del (n.2573+119del) n.3066+119del | gnomAD v4 |
20 | g.3228140A= | CA2346474834 | SLC4A11 | c.2558+119T= (n.2558+119T=) c.2489+119T= (n.2489+119T=) c.2357+119T= (n.2357+119T=) c.2444+119T= (n.2444+119T=) c.2606+119T= (n.2606+119T=) c.2687+119T= (n.2687+119T=) c.*706+119T= (n.*706+119T=) c.2927+119T= (n.2927+119T=) c.2501+119T= (n.2501+119T=) c.2525+119T= (n.2525+119T=) n.2656+119T= c.2921+119T= (n.2921+119T=) n.3101+119T= n.3081+119T= c.2573+119T= (n.2573+119T=) n.3066+119T= | |
20 | g.3228140A>C | CA634173547 | SLC4A11 | c.2558+119T>G (n.2558+119T>G) c.2489+119T>G (n.2489+119T>G) c.2357+119T>G (n.2357+119T>G) c.2444+119T>G (n.2444+119T>G) c.2606+119T>G (n.2606+119T>G) c.2687+119T>G (n.2687+119T>G) c.*706+119T>G (n.*706+119T>G) c.2927+119T>G (n.2927+119T>G) c.2501+119T>G (n.2501+119T>G) c.2525+119T>G (n.2525+119T>G) n.2656+119T>G c.2921+119T>G (n.2921+119T>G) n.3101+119T>G n.3081+119T>G c.2573+119T>G (n.2573+119T>G) n.3066+119T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228140A>G | CA2651691022 | SLC4A11 | c.2558+119T>C (n.2558+119T>C) c.2489+119T>C (n.2489+119T>C) c.2357+119T>C (n.2357+119T>C) c.2444+119T>C (n.2444+119T>C) c.2606+119T>C (n.2606+119T>C) c.2687+119T>C (n.2687+119T>C) c.*706+119T>C (n.*706+119T>C) c.2927+119T>C (n.2927+119T>C) c.2501+119T>C (n.2501+119T>C) c.2525+119T>C (n.2525+119T>C) n.2656+119T>C c.2921+119T>C (n.2921+119T>C) n.3101+119T>C n.3081+119T>C c.2573+119T>C (n.2573+119T>C) n.3066+119T>C | gnomAD v4 |
20 | g.3228140A>T | CA1014849475 | SLC4A11 | c.2558+119T>A (n.2558+119T>A) c.2489+119T>A (n.2489+119T>A) c.2357+119T>A (n.2357+119T>A) c.2444+119T>A (n.2444+119T>A) c.2606+119T>A (n.2606+119T>A) c.2687+119T>A (n.2687+119T>A) c.*706+119T>A (n.*706+119T>A) c.2927+119T>A (n.2927+119T>A) c.2501+119T>A (n.2501+119T>A) c.2525+119T>A (n.2525+119T>A) n.2656+119T>A c.2921+119T>A (n.2921+119T>A) n.3101+119T>A n.3081+119T>A c.2573+119T>A (n.2573+119T>A) n.3066+119T>A | gnomAD v3 gnomAD v4 |
20 | g.3228140_3228141insACCC | CA2651691028 | SLC4A11 | c.2558+118_2558+119insGGGT (n.2558+118_2558+119insGGGT) c.2489+118_2489+119insGGGT (n.2489+118_2489+119insGGGT) c.2357+118_2357+119insGGGT (n.2357+118_2357+119insGGGT) c.2444+118_2444+119insGGGT (n.2444+118_2444+119insGGGT) c.2606+118_2606+119insGGGT (n.2606+118_2606+119insGGGT) c.2687+118_2687+119insGGGT (n.2687+118_2687+119insGGGT) c.*706+118_*706+119insGGGT (n.*706+118_*706+119insGGGT) c.2927+118_2927+119insGGGT (n.2927+118_2927+119insGGGT) c.2501+118_2501+119insGGGT (n.2501+118_2501+119insGGGT) c.2525+118_2525+119insGGGT (n.2525+118_2525+119insGGGT) n.2656+118_2656+119insGGGT c.2921+118_2921+119insGGGT (n.2921+118_2921+119insGGGT) n.3101+118_3101+119insGGGT n.3081+118_3081+119insGGGT c.2573+118_2573+119insGGGT (n.2573+118_2573+119insGGGT) n.3066+118_3066+119insGGGT | gnomAD v4 |
20 | g.3228141C>A | CA2651691032 | SLC4A11 | c.2558+118G>T (n.2558+118G>T) c.2489+118G>T (n.2489+118G>T) c.2357+118G>T (n.2357+118G>T) c.2444+118G>T (n.2444+118G>T) c.2606+118G>T (n.2606+118G>T) c.2687+118G>T (n.2687+118G>T) c.*706+118G>T (n.*706+118G>T) c.2927+118G>T (n.2927+118G>T) c.2501+118G>T (n.2501+118G>T) c.2525+118G>T (n.2525+118G>T) n.2656+118G>T c.2921+118G>T (n.2921+118G>T) n.3101+118G>T n.3081+118G>T c.2573+118G>T (n.2573+118G>T) n.3066+118G>T | gnomAD v4 |
20 | g.3228141C>T | CA2651691033 | SLC4A11 | c.2558+118G>A (n.2558+118G>A) c.2489+118G>A (n.2489+118G>A) c.2357+118G>A (n.2357+118G>A) c.2444+118G>A (n.2444+118G>A) c.2606+118G>A (n.2606+118G>A) c.2687+118G>A (n.2687+118G>A) c.*706+118G>A (n.*706+118G>A) c.2927+118G>A (n.2927+118G>A) c.2501+118G>A (n.2501+118G>A) c.2525+118G>A (n.2525+118G>A) n.2656+118G>A c.2921+118G>A (n.2921+118G>A) n.3101+118G>A n.3081+118G>A c.2573+118G>A (n.2573+118G>A) n.3066+118G>A | gnomAD v4 |
20 | g.3228144dup | CA2651691029 | SLC4A11 | c.2558+118dup (n.2558+118dup) c.2489+118dup (n.2489+118dup) c.2357+118dup (n.2357+118dup) c.2444+118dup (n.2444+118dup) c.2606+118dup (n.2606+118dup) c.2687+118dup (n.2687+118dup) c.*706+118dup (n.*706+118dup) c.2927+118dup (n.2927+118dup) c.2501+118dup (n.2501+118dup) c.2525+118dup (n.2525+118dup) n.2656+118dup c.2921+118dup (n.2921+118dup) n.3101+118dup n.3081+118dup c.2573+118dup (n.2573+118dup) n.3066+118dup | gnomAD v4 |
20 | g.3228141_3228144dup | CA2651691030 | SLC4A11 | c.2558+115_2558+118dup (n.2558+115_2558+118dup) c.2489+115_2489+118dup (n.2489+115_2489+118dup) c.2357+115_2357+118dup (n.2357+115_2357+118dup) c.2444+115_2444+118dup (n.2444+115_2444+118dup) c.2606+115_2606+118dup (n.2606+115_2606+118dup) c.2687+115_2687+118dup (n.2687+115_2687+118dup) c.*706+115_*706+118dup (n.*706+115_*706+118dup) c.2927+115_2927+118dup (n.2927+115_2927+118dup) c.2501+115_2501+118dup (n.2501+115_2501+118dup) c.2525+115_2525+118dup (n.2525+115_2525+118dup) n.2656+115_2656+118dup c.2921+115_2921+118dup (n.2921+115_2921+118dup) n.3101+115_3101+118dup n.3081+115_3081+118dup c.2573+115_2573+118dup (n.2573+115_2573+118dup) n.3066+115_3066+118dup | gnomAD v4 |
20 | g.3228146_3228198del | CA2651691031 | SLC4A11 | c.2558+66_2558+118del (n.2558+66_2558+118del) c.2489+66_2489+118del (n.2489+66_2489+118del) c.2357+66_2357+118del (n.2357+66_2357+118del) c.2444+66_2444+118del (n.2444+66_2444+118del) c.2606+66_2606+118del (n.2606+66_2606+118del) c.2687+66_2687+118del (n.2687+66_2687+118del) c.*706+66_*706+118del (n.*706+66_*706+118del) c.2927+66_2927+118del (n.2927+66_2927+118del) c.2501+66_2501+118del (n.2501+66_2501+118del) c.2525+66_2525+118del (n.2525+66_2525+118del) n.2656+66_2656+118del c.2921+66_2921+118del (n.2921+66_2921+118del) n.3101+66_3101+118del n.3081+66_3081+118del c.2573+66_2573+118del (n.2573+66_2573+118del) n.3066+66_3066+118del | gnomAD v4 |
20 | g.3228142C>A | CA2651691034 | SLC4A11 | c.2558+117G>T (n.2558+117G>T) c.2489+117G>T (n.2489+117G>T) c.2357+117G>T (n.2357+117G>T) c.2444+117G>T (n.2444+117G>T) c.2606+117G>T (n.2606+117G>T) c.2687+117G>T (n.2687+117G>T) c.*706+117G>T (n.*706+117G>T) c.2927+117G>T (n.2927+117G>T) c.2501+117G>T (n.2501+117G>T) c.2525+117G>T (n.2525+117G>T) n.2656+117G>T c.2921+117G>T (n.2921+117G>T) n.3101+117G>T n.3081+117G>T c.2573+117G>T (n.2573+117G>T) n.3066+117G>T | gnomAD v4 |
20 | g.3228142C= | CA2346474835 | SLC4A11 | c.2558+117G= (n.2558+117G=) c.2489+117G= (n.2489+117G=) c.2357+117G= (n.2357+117G=) c.2444+117G= (n.2444+117G=) c.2606+117G= (n.2606+117G=) c.2687+117G= (n.2687+117G=) c.*706+117G= (n.*706+117G=) c.2927+117G= (n.2927+117G=) c.2501+117G= (n.2501+117G=) c.2525+117G= (n.2525+117G=) n.2656+117G= c.2921+117G= (n.2921+117G=) n.3101+117G= n.3081+117G= c.2573+117G= (n.2573+117G=) n.3066+117G= | |
20 | g.3228142C>T | CA310984553 | SLC4A11 | c.2558+117G>A (n.2558+117G>A) c.2489+117G>A (n.2489+117G>A) c.2357+117G>A (n.2357+117G>A) c.2444+117G>A (n.2444+117G>A) c.2606+117G>A (n.2606+117G>A) c.2687+117G>A (n.2687+117G>A) c.*706+117G>A (n.*706+117G>A) c.2927+117G>A (n.2927+117G>A) c.2501+117G>A (n.2501+117G>A) c.2525+117G>A (n.2525+117G>A) n.2656+117G>A c.2921+117G>A (n.2921+117G>A) n.3101+117G>A n.3081+117G>A c.2573+117G>A (n.2573+117G>A) n.3066+117G>A | dbSNP gnomAD v4 |
20 | g.3228143C>A | CA2651691037 | SLC4A11 | c.2558+116G>T (n.2558+116G>T) c.2489+116G>T (n.2489+116G>T) c.2357+116G>T (n.2357+116G>T) c.2444+116G>T (n.2444+116G>T) c.2606+116G>T (n.2606+116G>T) c.2687+116G>T (n.2687+116G>T) c.*706+116G>T (n.*706+116G>T) c.2927+116G>T (n.2927+116G>T) c.2501+116G>T (n.2501+116G>T) c.2525+116G>T (n.2525+116G>T) n.2656+116G>T c.2921+116G>T (n.2921+116G>T) n.3101+116G>T n.3081+116G>T c.2573+116G>T (n.2573+116G>T) n.3066+116G>T | gnomAD v4 |
20 | g.3228143C>G | CA2651691036 | SLC4A11 | c.2558+116G>C (n.2558+116G>C) c.2489+116G>C (n.2489+116G>C) c.2357+116G>C (n.2357+116G>C) c.2444+116G>C (n.2444+116G>C) c.2606+116G>C (n.2606+116G>C) c.2687+116G>C (n.2687+116G>C) c.*706+116G>C (n.*706+116G>C) c.2927+116G>C (n.2927+116G>C) c.2501+116G>C (n.2501+116G>C) c.2525+116G>C (n.2525+116G>C) n.2656+116G>C c.2921+116G>C (n.2921+116G>C) n.3101+116G>C n.3081+116G>C c.2573+116G>C (n.2573+116G>C) n.3066+116G>C | gnomAD v4 |
20 | g.3228143C>T | CA2651691035 | SLC4A11 | c.2558+116G>A (n.2558+116G>A) c.2489+116G>A (n.2489+116G>A) c.2357+116G>A (n.2357+116G>A) c.2444+116G>A (n.2444+116G>A) c.2606+116G>A (n.2606+116G>A) c.2687+116G>A (n.2687+116G>A) c.*706+116G>A (n.*706+116G>A) c.2927+116G>A (n.2927+116G>A) c.2501+116G>A (n.2501+116G>A) c.2525+116G>A (n.2525+116G>A) n.2656+116G>A c.2921+116G>A (n.2921+116G>A) n.3101+116G>A n.3081+116G>A c.2573+116G>A (n.2573+116G>A) n.3066+116G>A | gnomAD v4 |
20 | g.3228144C>A | CA2651691041 | SLC4A11 | c.2558+115G>T (n.2558+115G>T) c.2489+115G>T (n.2489+115G>T) c.2357+115G>T (n.2357+115G>T) c.2444+115G>T (n.2444+115G>T) c.2606+115G>T (n.2606+115G>T) c.2687+115G>T (n.2687+115G>T) c.*706+115G>T (n.*706+115G>T) c.2927+115G>T (n.2927+115G>T) c.2501+115G>T (n.2501+115G>T) c.2525+115G>T (n.2525+115G>T) n.2656+115G>T c.2921+115G>T (n.2921+115G>T) n.3101+115G>T n.3081+115G>T c.2573+115G>T (n.2573+115G>T) n.3066+115G>T | gnomAD v4 |
20 | g.3228144C>T | CA2555779471 | SLC4A11 | c.2558+115G>A (n.2558+115G>A) c.2489+115G>A (n.2489+115G>A) c.2357+115G>A (n.2357+115G>A) c.2444+115G>A (n.2444+115G>A) c.2606+115G>A (n.2606+115G>A) c.2687+115G>A (n.2687+115G>A) c.*706+115G>A (n.*706+115G>A) c.2927+115G>A (n.2927+115G>A) c.2501+115G>A (n.2501+115G>A) c.2525+115G>A (n.2525+115G>A) n.2656+115G>A c.2921+115G>A (n.2921+115G>A) n.3101+115G>A n.3081+115G>A c.2573+115G>A (n.2573+115G>A) n.3066+115G>A | |
20 | g.3228144_3228145insCCCCCCCCCCAC | CA2651691039 | SLC4A11 | c.2558+115_2558+116insTGGGGGGGGGGG (n.2558+115_2558+116insTGGGGGGGGGGG) c.2489+115_2489+116insTGGGGGGGGGGG (n.2489+115_2489+116insTGGGGGGGGGGG) c.2357+115_2357+116insTGGGGGGGGGGG (n.2357+115_2357+116insTGGGGGGGGGGG) c.2444+115_2444+116insTGGGGGGGGGGG (n.2444+115_2444+116insTGGGGGGGGGGG) c.2606+115_2606+116insTGGGGGGGGGGG (n.2606+115_2606+116insTGGGGGGGGGGG) c.2687+115_2687+116insTGGGGGGGGGGG (n.2687+115_2687+116insTGGGGGGGGGGG) c.*706+115_*706+116insTGGGGGGGGGGG (n.*706+115_*706+116insTGGGGGGGGGGG) c.2927+115_2927+116insTGGGGGGGGGGG (n.2927+115_2927+116insTGGGGGGGGGGG) c.2501+115_2501+116insTGGGGGGGGGGG (n.2501+115_2501+116insTGGGGGGGGGGG) c.2525+115_2525+116insTGGGGGGGGGGG (n.2525+115_2525+116insTGGGGGGGGGGG) n.2656+115_2656+116insTGGGGGGGGGGG c.2921+115_2921+116insTGGGGGGGGGGG (n.2921+115_2921+116insTGGGGGGGGGGG) n.3101+115_3101+116insTGGGGGGGGGGG n.3081+115_3081+116insTGGGGGGGGGGG c.2573+115_2573+116insTGGGGGGGGGGG (n.2573+115_2573+116insTGGGGGGGGGGG) n.3066+115_3066+116insTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCAAC | CA2651691042 | SLC4A11 | c.2558+115_2558+116insTTGGGGGGGGGGG (n.2558+115_2558+116insTTGGGGGGGGGGG) c.2489+115_2489+116insTTGGGGGGGGGGG (n.2489+115_2489+116insTTGGGGGGGGGGG) c.2357+115_2357+116insTTGGGGGGGGGGG (n.2357+115_2357+116insTTGGGGGGGGGGG) c.2444+115_2444+116insTTGGGGGGGGGGG (n.2444+115_2444+116insTTGGGGGGGGGGG) c.2606+115_2606+116insTTGGGGGGGGGGG (n.2606+115_2606+116insTTGGGGGGGGGGG) c.2687+115_2687+116insTTGGGGGGGGGGG (n.2687+115_2687+116insTTGGGGGGGGGGG) c.*706+115_*706+116insTTGGGGGGGGGGG (n.*706+115_*706+116insTTGGGGGGGGGGG) c.2927+115_2927+116insTTGGGGGGGGGGG (n.2927+115_2927+116insTTGGGGGGGGGGG) c.2501+115_2501+116insTTGGGGGGGGGGG (n.2501+115_2501+116insTTGGGGGGGGGGG) c.2525+115_2525+116insTTGGGGGGGGGGG (n.2525+115_2525+116insTTGGGGGGGGGGG) n.2656+115_2656+116insTTGGGGGGGGGGG c.2921+115_2921+116insTTGGGGGGGGGGG (n.2921+115_2921+116insTTGGGGGGGGGGG) n.3101+115_3101+116insTTGGGGGGGGGGG n.3081+115_3081+116insTTGGGGGGGGGGG c.2573+115_2573+116insTTGGGGGGGGGGG (n.2573+115_2573+116insTTGGGGGGGGGGG) n.3066+115_3066+116insTTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCAC | CA2651691038 | SLC4A11 | c.2558+115_2558+116insTGGGGGGGGGGGG (n.2558+115_2558+116insTGGGGGGGGGGGG) c.2489+115_2489+116insTGGGGGGGGGGGG (n.2489+115_2489+116insTGGGGGGGGGGGG) c.2357+115_2357+116insTGGGGGGGGGGGG (n.2357+115_2357+116insTGGGGGGGGGGGG) c.2444+115_2444+116insTGGGGGGGGGGGG (n.2444+115_2444+116insTGGGGGGGGGGGG) c.2606+115_2606+116insTGGGGGGGGGGGG (n.2606+115_2606+116insTGGGGGGGGGGGG) c.2687+115_2687+116insTGGGGGGGGGGGG (n.2687+115_2687+116insTGGGGGGGGGGGG) c.*706+115_*706+116insTGGGGGGGGGGGG (n.*706+115_*706+116insTGGGGGGGGGGGG) c.2927+115_2927+116insTGGGGGGGGGGGG (n.2927+115_2927+116insTGGGGGGGGGGGG) c.2501+115_2501+116insTGGGGGGGGGGGG (n.2501+115_2501+116insTGGGGGGGGGGGG) c.2525+115_2525+116insTGGGGGGGGGGGG (n.2525+115_2525+116insTGGGGGGGGGGGG) n.2656+115_2656+116insTGGGGGGGGGGGG c.2921+115_2921+116insTGGGGGGGGGGGG (n.2921+115_2921+116insTGGGGGGGGGGGG) n.3101+115_3101+116insTGGGGGGGGGGGG n.3081+115_3081+116insTGGGGGGGGGGGG c.2573+115_2573+116insTGGGGGGGGGGGG (n.2573+115_2573+116insTGGGGGGGGGGGG) n.3066+115_3066+116insTGGGGGGGGGGGG | gnomAD v4 |
20 | g.3228145_3228147del | CA2651691040 | SLC4A11 | c.2558+113_2558+115del (n.2558+113_2558+115del) c.2489+113_2489+115del (n.2489+113_2489+115del) c.2357+113_2357+115del (n.2357+113_2357+115del) c.2444+113_2444+115del (n.2444+113_2444+115del) c.2606+113_2606+115del (n.2606+113_2606+115del) c.2687+113_2687+115del (n.2687+113_2687+115del) c.*706+113_*706+115del (n.*706+113_*706+115del) c.2927+113_2927+115del (n.2927+113_2927+115del) c.2501+113_2501+115del (n.2501+113_2501+115del) c.2525+113_2525+115del (n.2525+113_2525+115del) n.2656+113_2656+115del c.2921+113_2921+115del (n.2921+113_2921+115del) n.3101+113_3101+115del n.3081+113_3081+115del c.2573+113_2573+115del (n.2573+113_2573+115del) n.3066+113_3066+115del | gnomAD v4 |
20 | g.3228144_3228145insCA | CA2651691060 | SLC4A11 | c.2558+114_2558+115insTG (n.2558+114_2558+115insTG) c.2489+114_2489+115insTG (n.2489+114_2489+115insTG) c.2357+114_2357+115insTG (n.2357+114_2357+115insTG) c.2444+114_2444+115insTG (n.2444+114_2444+115insTG) c.2606+114_2606+115insTG (n.2606+114_2606+115insTG) c.2687+114_2687+115insTG (n.2687+114_2687+115insTG) c.*706+114_*706+115insTG (n.*706+114_*706+115insTG) c.2927+114_2927+115insTG (n.2927+114_2927+115insTG) c.2501+114_2501+115insTG (n.2501+114_2501+115insTG) c.2525+114_2525+115insTG (n.2525+114_2525+115insTG) n.2656+114_2656+115insTG c.2921+114_2921+115insTG (n.2921+114_2921+115insTG) n.3101+114_3101+115insTG n.3081+114_3081+115insTG c.2573+114_2573+115insTG (n.2573+114_2573+115insTG) n.3066+114_3066+115insTG | gnomAD v4 |
20 | g.3228144_3228145insCCA | CA2651691062 | SLC4A11 | c.2558+114_2558+115insTGG (n.2558+114_2558+115insTGG) c.2489+114_2489+115insTGG (n.2489+114_2489+115insTGG) c.2357+114_2357+115insTGG (n.2357+114_2357+115insTGG) c.2444+114_2444+115insTGG (n.2444+114_2444+115insTGG) c.2606+114_2606+115insTGG (n.2606+114_2606+115insTGG) c.2687+114_2687+115insTGG (n.2687+114_2687+115insTGG) c.*706+114_*706+115insTGG (n.*706+114_*706+115insTGG) c.2927+114_2927+115insTGG (n.2927+114_2927+115insTGG) c.2501+114_2501+115insTGG (n.2501+114_2501+115insTGG) c.2525+114_2525+115insTGG (n.2525+114_2525+115insTGG) n.2656+114_2656+115insTGG c.2921+114_2921+115insTGG (n.2921+114_2921+115insTGG) n.3101+114_3101+115insTGG n.3081+114_3081+115insTGG c.2573+114_2573+115insTGG (n.2573+114_2573+115insTGG) n.3066+114_3066+115insTGG | gnomAD v4 |
20 | g.3228144_3228145insCCAAA | CA2651691063 | SLC4A11 | c.2558+114_2558+115insTTTGG (n.2558+114_2558+115insTTTGG) c.2489+114_2489+115insTTTGG (n.2489+114_2489+115insTTTGG) c.2357+114_2357+115insTTTGG (n.2357+114_2357+115insTTTGG) c.2444+114_2444+115insTTTGG (n.2444+114_2444+115insTTTGG) c.2606+114_2606+115insTTTGG (n.2606+114_2606+115insTTTGG) c.2687+114_2687+115insTTTGG (n.2687+114_2687+115insTTTGG) c.*706+114_*706+115insTTTGG (n.*706+114_*706+115insTTTGG) c.2927+114_2927+115insTTTGG (n.2927+114_2927+115insTTTGG) c.2501+114_2501+115insTTTGG (n.2501+114_2501+115insTTTGG) c.2525+114_2525+115insTTTGG (n.2525+114_2525+115insTTTGG) n.2656+114_2656+115insTTTGG c.2921+114_2921+115insTTTGG (n.2921+114_2921+115insTTTGG) n.3101+114_3101+115insTTTGG n.3081+114_3081+115insTTTGG c.2573+114_2573+115insTTTGG (n.2573+114_2573+115insTTTGG) n.3066+114_3066+115insTTTGG | gnomAD v4 |
20 | g.3228144_3228145insCCCAA | CA2651691065 | SLC4A11 | c.2558+114_2558+115insTTGGG (n.2558+114_2558+115insTTGGG) c.2489+114_2489+115insTTGGG (n.2489+114_2489+115insTTGGG) c.2357+114_2357+115insTTGGG (n.2357+114_2357+115insTTGGG) c.2444+114_2444+115insTTGGG (n.2444+114_2444+115insTTGGG) c.2606+114_2606+115insTTGGG (n.2606+114_2606+115insTTGGG) c.2687+114_2687+115insTTGGG (n.2687+114_2687+115insTTGGG) c.*706+114_*706+115insTTGGG (n.*706+114_*706+115insTTGGG) c.2927+114_2927+115insTTGGG (n.2927+114_2927+115insTTGGG) c.2501+114_2501+115insTTGGG (n.2501+114_2501+115insTTGGG) c.2525+114_2525+115insTTGGG (n.2525+114_2525+115insTTGGG) n.2656+114_2656+115insTTGGG c.2921+114_2921+115insTTGGG (n.2921+114_2921+115insTTGGG) n.3101+114_3101+115insTTGGG n.3081+114_3081+115insTTGGG c.2573+114_2573+115insTTGGG (n.2573+114_2573+115insTTGGG) n.3066+114_3066+115insTTGGG | gnomAD v4 |
20 | g.3228144_3228145insCCAAAA | CA2651691064 | SLC4A11 | c.2558+114_2558+115insTTTTGG (n.2558+114_2558+115insTTTTGG) c.2489+114_2489+115insTTTTGG (n.2489+114_2489+115insTTTTGG) c.2357+114_2357+115insTTTTGG (n.2357+114_2357+115insTTTTGG) c.2444+114_2444+115insTTTTGG (n.2444+114_2444+115insTTTTGG) c.2606+114_2606+115insTTTTGG (n.2606+114_2606+115insTTTTGG) c.2687+114_2687+115insTTTTGG (n.2687+114_2687+115insTTTTGG) c.*706+114_*706+115insTTTTGG (n.*706+114_*706+115insTTTTGG) c.2927+114_2927+115insTTTTGG (n.2927+114_2927+115insTTTTGG) c.2501+114_2501+115insTTTTGG (n.2501+114_2501+115insTTTTGG) c.2525+114_2525+115insTTTTGG (n.2525+114_2525+115insTTTTGG) n.2656+114_2656+115insTTTTGG c.2921+114_2921+115insTTTTGG (n.2921+114_2921+115insTTTTGG) n.3101+114_3101+115insTTTTGG n.3081+114_3081+115insTTTTGG c.2573+114_2573+115insTTTTGG (n.2573+114_2573+115insTTTTGG) n.3066+114_3066+115insTTTTGG | gnomAD v4 |
20 | g.3228144_3228145insCCCAAA | CA2651691067 | SLC4A11 | c.2558+114_2558+115insTTTGGG (n.2558+114_2558+115insTTTGGG) c.2489+114_2489+115insTTTGGG (n.2489+114_2489+115insTTTGGG) c.2357+114_2357+115insTTTGGG (n.2357+114_2357+115insTTTGGG) c.2444+114_2444+115insTTTGGG (n.2444+114_2444+115insTTTGGG) c.2606+114_2606+115insTTTGGG (n.2606+114_2606+115insTTTGGG) c.2687+114_2687+115insTTTGGG (n.2687+114_2687+115insTTTGGG) c.*706+114_*706+115insTTTGGG (n.*706+114_*706+115insTTTGGG) c.2927+114_2927+115insTTTGGG (n.2927+114_2927+115insTTTGGG) c.2501+114_2501+115insTTTGGG (n.2501+114_2501+115insTTTGGG) c.2525+114_2525+115insTTTGGG (n.2525+114_2525+115insTTTGGG) n.2656+114_2656+115insTTTGGG c.2921+114_2921+115insTTTGGG (n.2921+114_2921+115insTTTGGG) n.3101+114_3101+115insTTTGGG n.3081+114_3081+115insTTTGGG c.2573+114_2573+115insTTTGGG (n.2573+114_2573+115insTTTGGG) n.3066+114_3066+115insTTTGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCATA | CA2651691072 | SLC4A11 | c.2558+114_2558+115insTATGGG (n.2558+114_2558+115insTATGGG) c.2489+114_2489+115insTATGGG (n.2489+114_2489+115insTATGGG) c.2357+114_2357+115insTATGGG (n.2357+114_2357+115insTATGGG) c.2444+114_2444+115insTATGGG (n.2444+114_2444+115insTATGGG) c.2606+114_2606+115insTATGGG (n.2606+114_2606+115insTATGGG) c.2687+114_2687+115insTATGGG (n.2687+114_2687+115insTATGGG) c.*706+114_*706+115insTATGGG (n.*706+114_*706+115insTATGGG) c.2927+114_2927+115insTATGGG (n.2927+114_2927+115insTATGGG) c.2501+114_2501+115insTATGGG (n.2501+114_2501+115insTATGGG) c.2525+114_2525+115insTATGGG (n.2525+114_2525+115insTATGGG) n.2656+114_2656+115insTATGGG c.2921+114_2921+115insTATGGG (n.2921+114_2921+115insTATGGG) n.3101+114_3101+115insTATGGG n.3081+114_3081+115insTATGGG c.2573+114_2573+115insTATGGG (n.2573+114_2573+115insTATGGG) n.3066+114_3066+115insTATGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCAA | CA2651691071 | SLC4A11 | c.2558+114_2558+115insTTGGGG (n.2558+114_2558+115insTTGGGG) c.2489+114_2489+115insTTGGGG (n.2489+114_2489+115insTTGGGG) c.2357+114_2357+115insTTGGGG (n.2357+114_2357+115insTTGGGG) c.2444+114_2444+115insTTGGGG (n.2444+114_2444+115insTTGGGG) c.2606+114_2606+115insTTGGGG (n.2606+114_2606+115insTTGGGG) c.2687+114_2687+115insTTGGGG (n.2687+114_2687+115insTTGGGG) c.*706+114_*706+115insTTGGGG (n.*706+114_*706+115insTTGGGG) c.2927+114_2927+115insTTGGGG (n.2927+114_2927+115insTTGGGG) c.2501+114_2501+115insTTGGGG (n.2501+114_2501+115insTTGGGG) c.2525+114_2525+115insTTGGGG (n.2525+114_2525+115insTTGGGG) n.2656+114_2656+115insTTGGGG c.2921+114_2921+115insTTGGGG (n.2921+114_2921+115insTTGGGG) n.3101+114_3101+115insTTGGGG n.3081+114_3081+115insTTGGGG c.2573+114_2573+115insTTGGGG (n.2573+114_2573+115insTTGGGG) n.3066+114_3066+115insTTGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCA | CA2651691057 | SLC4A11 | c.2558+114_2558+115insTGGGGG (n.2558+114_2558+115insTGGGGG) c.2489+114_2489+115insTGGGGG (n.2489+114_2489+115insTGGGGG) c.2357+114_2357+115insTGGGGG (n.2357+114_2357+115insTGGGGG) c.2444+114_2444+115insTGGGGG (n.2444+114_2444+115insTGGGGG) c.2606+114_2606+115insTGGGGG (n.2606+114_2606+115insTGGGGG) c.2687+114_2687+115insTGGGGG (n.2687+114_2687+115insTGGGGG) c.*706+114_*706+115insTGGGGG (n.*706+114_*706+115insTGGGGG) c.2927+114_2927+115insTGGGGG (n.2927+114_2927+115insTGGGGG) c.2501+114_2501+115insTGGGGG (n.2501+114_2501+115insTGGGGG) c.2525+114_2525+115insTGGGGG (n.2525+114_2525+115insTGGGGG) n.2656+114_2656+115insTGGGGG c.2921+114_2921+115insTGGGGG (n.2921+114_2921+115insTGGGGG) n.3101+114_3101+115insTGGGGG n.3081+114_3081+115insTGGGGG c.2573+114_2573+115insTGGGGG (n.2573+114_2573+115insTGGGGG) n.3066+114_3066+115insTGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCAAAA | CA2651691066 | SLC4A11 | c.2558+114_2558+115insTTTTGGG (n.2558+114_2558+115insTTTTGGG) c.2489+114_2489+115insTTTTGGG (n.2489+114_2489+115insTTTTGGG) c.2357+114_2357+115insTTTTGGG (n.2357+114_2357+115insTTTTGGG) c.2444+114_2444+115insTTTTGGG (n.2444+114_2444+115insTTTTGGG) c.2606+114_2606+115insTTTTGGG (n.2606+114_2606+115insTTTTGGG) c.2687+114_2687+115insTTTTGGG (n.2687+114_2687+115insTTTTGGG) c.*706+114_*706+115insTTTTGGG (n.*706+114_*706+115insTTTTGGG) c.2927+114_2927+115insTTTTGGG (n.2927+114_2927+115insTTTTGGG) c.2501+114_2501+115insTTTTGGG (n.2501+114_2501+115insTTTTGGG) c.2525+114_2525+115insTTTTGGG (n.2525+114_2525+115insTTTTGGG) n.2656+114_2656+115insTTTTGGG c.2921+114_2921+115insTTTTGGG (n.2921+114_2921+115insTTTTGGG) n.3101+114_3101+115insTTTTGGG n.3081+114_3081+115insTTTTGGG c.2573+114_2573+115insTTTTGGG (n.2573+114_2573+115insTTTTGGG) n.3066+114_3066+115insTTTTGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCAAA | CA2651691070 | SLC4A11 | c.2558+114_2558+115insTTTGGGG (n.2558+114_2558+115insTTTGGGG) c.2489+114_2489+115insTTTGGGG (n.2489+114_2489+115insTTTGGGG) c.2357+114_2357+115insTTTGGGG (n.2357+114_2357+115insTTTGGGG) c.2444+114_2444+115insTTTGGGG (n.2444+114_2444+115insTTTGGGG) c.2606+114_2606+115insTTTGGGG (n.2606+114_2606+115insTTTGGGG) c.2687+114_2687+115insTTTGGGG (n.2687+114_2687+115insTTTGGGG) c.*706+114_*706+115insTTTGGGG (n.*706+114_*706+115insTTTGGGG) c.2927+114_2927+115insTTTGGGG (n.2927+114_2927+115insTTTGGGG) c.2501+114_2501+115insTTTGGGG (n.2501+114_2501+115insTTTGGGG) c.2525+114_2525+115insTTTGGGG (n.2525+114_2525+115insTTTGGGG) n.2656+114_2656+115insTTTGGGG c.2921+114_2921+115insTTTGGGG (n.2921+114_2921+115insTTTGGGG) n.3101+114_3101+115insTTTGGGG n.3081+114_3081+115insTTTGGGG c.2573+114_2573+115insTTTGGGG (n.2573+114_2573+115insTTTGGGG) n.3066+114_3066+115insTTTGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCATA | CA2651691068 | SLC4A11 | c.2558+114_2558+115insTATGGGG (n.2558+114_2558+115insTATGGGG) c.2489+114_2489+115insTATGGGG (n.2489+114_2489+115insTATGGGG) c.2357+114_2357+115insTATGGGG (n.2357+114_2357+115insTATGGGG) c.2444+114_2444+115insTATGGGG (n.2444+114_2444+115insTATGGGG) c.2606+114_2606+115insTATGGGG (n.2606+114_2606+115insTATGGGG) c.2687+114_2687+115insTATGGGG (n.2687+114_2687+115insTATGGGG) c.*706+114_*706+115insTATGGGG (n.*706+114_*706+115insTATGGGG) c.2927+114_2927+115insTATGGGG (n.2927+114_2927+115insTATGGGG) c.2501+114_2501+115insTATGGGG (n.2501+114_2501+115insTATGGGG) c.2525+114_2525+115insTATGGGG (n.2525+114_2525+115insTATGGGG) n.2656+114_2656+115insTATGGGG c.2921+114_2921+115insTATGGGG (n.2921+114_2921+115insTATGGGG) n.3101+114_3101+115insTATGGGG n.3081+114_3081+115insTATGGGG c.2573+114_2573+115insTATGGGG (n.2573+114_2573+115insTATGGGG) n.3066+114_3066+115insTATGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCAA | CA2651691058 | SLC4A11 | c.2558+114_2558+115insTTGGGGG (n.2558+114_2558+115insTTGGGGG) c.2489+114_2489+115insTTGGGGG (n.2489+114_2489+115insTTGGGGG) c.2357+114_2357+115insTTGGGGG (n.2357+114_2357+115insTTGGGGG) c.2444+114_2444+115insTTGGGGG (n.2444+114_2444+115insTTGGGGG) c.2606+114_2606+115insTTGGGGG (n.2606+114_2606+115insTTGGGGG) c.2687+114_2687+115insTTGGGGG (n.2687+114_2687+115insTTGGGGG) c.*706+114_*706+115insTTGGGGG (n.*706+114_*706+115insTTGGGGG) c.2927+114_2927+115insTTGGGGG (n.2927+114_2927+115insTTGGGGG) c.2501+114_2501+115insTTGGGGG (n.2501+114_2501+115insTTGGGGG) c.2525+114_2525+115insTTGGGGG (n.2525+114_2525+115insTTGGGGG) n.2656+114_2656+115insTTGGGGG c.2921+114_2921+115insTTGGGGG (n.2921+114_2921+115insTTGGGGG) n.3101+114_3101+115insTTGGGGG n.3081+114_3081+115insTTGGGGG c.2573+114_2573+115insTTGGGGG (n.2573+114_2573+115insTTGGGGG) n.3066+114_3066+115insTTGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCAAAA | CA2651691069 | SLC4A11 | c.2558+114_2558+115insTTTTGGGG (n.2558+114_2558+115insTTTTGGGG) c.2489+114_2489+115insTTTTGGGG (n.2489+114_2489+115insTTTTGGGG) c.2357+114_2357+115insTTTTGGGG (n.2357+114_2357+115insTTTTGGGG) c.2444+114_2444+115insTTTTGGGG (n.2444+114_2444+115insTTTTGGGG) c.2606+114_2606+115insTTTTGGGG (n.2606+114_2606+115insTTTTGGGG) c.2687+114_2687+115insTTTTGGGG (n.2687+114_2687+115insTTTTGGGG) c.*706+114_*706+115insTTTTGGGG (n.*706+114_*706+115insTTTTGGGG) c.2927+114_2927+115insTTTTGGGG (n.2927+114_2927+115insTTTTGGGG) c.2501+114_2501+115insTTTTGGGG (n.2501+114_2501+115insTTTTGGGG) c.2525+114_2525+115insTTTTGGGG (n.2525+114_2525+115insTTTTGGGG) n.2656+114_2656+115insTTTTGGGG c.2921+114_2921+115insTTTTGGGG (n.2921+114_2921+115insTTTTGGGG) n.3101+114_3101+115insTTTTGGGG n.3081+114_3081+115insTTTTGGGG c.2573+114_2573+115insTTTTGGGG (n.2573+114_2573+115insTTTTGGGG) n.3066+114_3066+115insTTTTGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCAAA | CA2651691043 | SLC4A11 | c.2558+114_2558+115insTTTGGGGG (n.2558+114_2558+115insTTTGGGGG) c.2489+114_2489+115insTTTGGGGG (n.2489+114_2489+115insTTTGGGGG) c.2357+114_2357+115insTTTGGGGG (n.2357+114_2357+115insTTTGGGGG) c.2444+114_2444+115insTTTGGGGG (n.2444+114_2444+115insTTTGGGGG) c.2606+114_2606+115insTTTGGGGG (n.2606+114_2606+115insTTTGGGGG) c.2687+114_2687+115insTTTGGGGG (n.2687+114_2687+115insTTTGGGGG) c.*706+114_*706+115insTTTGGGGG (n.*706+114_*706+115insTTTGGGGG) c.2927+114_2927+115insTTTGGGGG (n.2927+114_2927+115insTTTGGGGG) c.2501+114_2501+115insTTTGGGGG (n.2501+114_2501+115insTTTGGGGG) c.2525+114_2525+115insTTTGGGGG (n.2525+114_2525+115insTTTGGGGG) n.2656+114_2656+115insTTTGGGGG c.2921+114_2921+115insTTTGGGGG (n.2921+114_2921+115insTTTGGGGG) n.3101+114_3101+115insTTTGGGGG n.3081+114_3081+115insTTTGGGGG c.2573+114_2573+115insTTTGGGGG (n.2573+114_2573+115insTTTGGGGG) n.3066+114_3066+115insTTTGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCAA | CA2651691044 | SLC4A11 | c.2558+114_2558+115insTTGGGGGGGGGG (n.2558+114_2558+115insTTGGGGGGGGGG) c.2489+114_2489+115insTTGGGGGGGGGG (n.2489+114_2489+115insTTGGGGGGGGGG) c.2357+114_2357+115insTTGGGGGGGGGG (n.2357+114_2357+115insTTGGGGGGGGGG) c.2444+114_2444+115insTTGGGGGGGGGG (n.2444+114_2444+115insTTGGGGGGGGGG) c.2606+114_2606+115insTTGGGGGGGGGG (n.2606+114_2606+115insTTGGGGGGGGGG) c.2687+114_2687+115insTTGGGGGGGGGG (n.2687+114_2687+115insTTGGGGGGGGGG) c.*706+114_*706+115insTTGGGGGGGGGG (n.*706+114_*706+115insTTGGGGGGGGGG) c.2927+114_2927+115insTTGGGGGGGGGG (n.2927+114_2927+115insTTGGGGGGGGGG) c.2501+114_2501+115insTTGGGGGGGGGG (n.2501+114_2501+115insTTGGGGGGGGGG) c.2525+114_2525+115insTTGGGGGGGGGG (n.2525+114_2525+115insTTGGGGGGGGGG) n.2656+114_2656+115insTTGGGGGGGGGG c.2921+114_2921+115insTTGGGGGGGGGG (n.2921+114_2921+115insTTGGGGGGGGGG) n.3101+114_3101+115insTTGGGGGGGGGG n.3081+114_3081+115insTTGGGGGGGGGG c.2573+114_2573+115insTTGGGGGGGGGG (n.2573+114_2573+115insTTGGGGGGGGGG) n.3066+114_3066+115insTTGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCA | CA2651691048 | SLC4A11 | c.2558+114_2558+115insTGGGGGGGGGGG (n.2558+114_2558+115insTGGGGGGGGGGG) c.2489+114_2489+115insTGGGGGGGGGGG (n.2489+114_2489+115insTGGGGGGGGGGG) c.2357+114_2357+115insTGGGGGGGGGGG (n.2357+114_2357+115insTGGGGGGGGGGG) c.2444+114_2444+115insTGGGGGGGGGGG (n.2444+114_2444+115insTGGGGGGGGGGG) c.2606+114_2606+115insTGGGGGGGGGGG (n.2606+114_2606+115insTGGGGGGGGGGG) c.2687+114_2687+115insTGGGGGGGGGGG (n.2687+114_2687+115insTGGGGGGGGGGG) c.*706+114_*706+115insTGGGGGGGGGGG (n.*706+114_*706+115insTGGGGGGGGGGG) c.2927+114_2927+115insTGGGGGGGGGGG (n.2927+114_2927+115insTGGGGGGGGGGG) c.2501+114_2501+115insTGGGGGGGGGGG (n.2501+114_2501+115insTGGGGGGGGGGG) c.2525+114_2525+115insTGGGGGGGGGGG (n.2525+114_2525+115insTGGGGGGGGGGG) n.2656+114_2656+115insTGGGGGGGGGGG c.2921+114_2921+115insTGGGGGGGGGGG (n.2921+114_2921+115insTGGGGGGGGGGG) n.3101+114_3101+115insTGGGGGGGGGGG n.3081+114_3081+115insTGGGGGGGGGGG c.2573+114_2573+115insTGGGGGGGGGGG (n.2573+114_2573+115insTGGGGGGGGGGG) n.3066+114_3066+115insTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCAACCCCCCCAAA | CA2651691061 | SLC4A11 | c.2558+114_2558+115insTTTGGGGGGGTTG (n.2558+114_2558+115insTTTGGGGGGGTTG) c.2489+114_2489+115insTTTGGGGGGGTTG (n.2489+114_2489+115insTTTGGGGGGGTTG) c.2357+114_2357+115insTTTGGGGGGGTTG (n.2357+114_2357+115insTTTGGGGGGGTTG) c.2444+114_2444+115insTTTGGGGGGGTTG (n.2444+114_2444+115insTTTGGGGGGGTTG) c.2606+114_2606+115insTTTGGGGGGGTTG (n.2606+114_2606+115insTTTGGGGGGGTTG) c.2687+114_2687+115insTTTGGGGGGGTTG (n.2687+114_2687+115insTTTGGGGGGGTTG) c.*706+114_*706+115insTTTGGGGGGGTTG (n.*706+114_*706+115insTTTGGGGGGGTTG) c.2927+114_2927+115insTTTGGGGGGGTTG (n.2927+114_2927+115insTTTGGGGGGGTTG) c.2501+114_2501+115insTTTGGGGGGGTTG (n.2501+114_2501+115insTTTGGGGGGGTTG) c.2525+114_2525+115insTTTGGGGGGGTTG (n.2525+114_2525+115insTTTGGGGGGGTTG) n.2656+114_2656+115insTTTGGGGGGGTTG c.2921+114_2921+115insTTTGGGGGGGTTG (n.2921+114_2921+115insTTTGGGGGGGTTG) n.3101+114_3101+115insTTTGGGGGGGTTG n.3081+114_3081+115insTTTGGGGGGGTTG c.2573+114_2573+115insTTTGGGGGGGTTG (n.2573+114_2573+115insTTTGGGGGGGTTG) n.3066+114_3066+115insTTTGGGGGGGTTG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCAAA | CA2651691045 | SLC4A11 | c.2558+114_2558+115insTTTGGGGGGGGGG (n.2558+114_2558+115insTTTGGGGGGGGGG) c.2489+114_2489+115insTTTGGGGGGGGGG (n.2489+114_2489+115insTTTGGGGGGGGGG) c.2357+114_2357+115insTTTGGGGGGGGGG (n.2357+114_2357+115insTTTGGGGGGGGGG) c.2444+114_2444+115insTTTGGGGGGGGGG (n.2444+114_2444+115insTTTGGGGGGGGGG) c.2606+114_2606+115insTTTGGGGGGGGGG (n.2606+114_2606+115insTTTGGGGGGGGGG) c.2687+114_2687+115insTTTGGGGGGGGGG (n.2687+114_2687+115insTTTGGGGGGGGGG) c.*706+114_*706+115insTTTGGGGGGGGGG (n.*706+114_*706+115insTTTGGGGGGGGGG) c.2927+114_2927+115insTTTGGGGGGGGGG (n.2927+114_2927+115insTTTGGGGGGGGGG) c.2501+114_2501+115insTTTGGGGGGGGGG (n.2501+114_2501+115insTTTGGGGGGGGGG) c.2525+114_2525+115insTTTGGGGGGGGGG (n.2525+114_2525+115insTTTGGGGGGGGGG) n.2656+114_2656+115insTTTGGGGGGGGGG c.2921+114_2921+115insTTTGGGGGGGGGG (n.2921+114_2921+115insTTTGGGGGGGGGG) n.3101+114_3101+115insTTTGGGGGGGGGG n.3081+114_3081+115insTTTGGGGGGGGGG c.2573+114_2573+115insTTTGGGGGGGGGG (n.2573+114_2573+115insTTTGGGGGGGGGG) n.3066+114_3066+115insTTTGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCATA | CA2651691047 | SLC4A11 | c.2558+114_2558+115insTATGGGGGGGGGG (n.2558+114_2558+115insTATGGGGGGGGGG) c.2489+114_2489+115insTATGGGGGGGGGG (n.2489+114_2489+115insTATGGGGGGGGGG) c.2357+114_2357+115insTATGGGGGGGGGG (n.2357+114_2357+115insTATGGGGGGGGGG) c.2444+114_2444+115insTATGGGGGGGGGG (n.2444+114_2444+115insTATGGGGGGGGGG) c.2606+114_2606+115insTATGGGGGGGGGG (n.2606+114_2606+115insTATGGGGGGGGGG) c.2687+114_2687+115insTATGGGGGGGGGG (n.2687+114_2687+115insTATGGGGGGGGGG) c.*706+114_*706+115insTATGGGGGGGGGG (n.*706+114_*706+115insTATGGGGGGGGGG) c.2927+114_2927+115insTATGGGGGGGGGG (n.2927+114_2927+115insTATGGGGGGGGGG) c.2501+114_2501+115insTATGGGGGGGGGG (n.2501+114_2501+115insTATGGGGGGGGGG) c.2525+114_2525+115insTATGGGGGGGGGG (n.2525+114_2525+115insTATGGGGGGGGGG) n.2656+114_2656+115insTATGGGGGGGGGG c.2921+114_2921+115insTATGGGGGGGGGG (n.2921+114_2921+115insTATGGGGGGGGGG) n.3101+114_3101+115insTATGGGGGGGGGG n.3081+114_3081+115insTATGGGGGGGGGG c.2573+114_2573+115insTATGGGGGGGGGG (n.2573+114_2573+115insTATGGGGGGGGGG) n.3066+114_3066+115insTATGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCAA | CA2651691049 | SLC4A11 | c.2558+114_2558+115insTTGGGGGGGGGGG (n.2558+114_2558+115insTTGGGGGGGGGGG) c.2489+114_2489+115insTTGGGGGGGGGGG (n.2489+114_2489+115insTTGGGGGGGGGGG) c.2357+114_2357+115insTTGGGGGGGGGGG (n.2357+114_2357+115insTTGGGGGGGGGGG) c.2444+114_2444+115insTTGGGGGGGGGGG (n.2444+114_2444+115insTTGGGGGGGGGGG) c.2606+114_2606+115insTTGGGGGGGGGGG (n.2606+114_2606+115insTTGGGGGGGGGGG) c.2687+114_2687+115insTTGGGGGGGGGGG (n.2687+114_2687+115insTTGGGGGGGGGGG) c.*706+114_*706+115insTTGGGGGGGGGGG (n.*706+114_*706+115insTTGGGGGGGGGGG) c.2927+114_2927+115insTTGGGGGGGGGGG (n.2927+114_2927+115insTTGGGGGGGGGGG) c.2501+114_2501+115insTTGGGGGGGGGGG (n.2501+114_2501+115insTTGGGGGGGGGGG) c.2525+114_2525+115insTTGGGGGGGGGGG (n.2525+114_2525+115insTTGGGGGGGGGGG) n.2656+114_2656+115insTTGGGGGGGGGGG c.2921+114_2921+115insTTGGGGGGGGGGG (n.2921+114_2921+115insTTGGGGGGGGGGG) n.3101+114_3101+115insTTGGGGGGGGGGG n.3081+114_3081+115insTTGGGGGGGGGGG c.2573+114_2573+115insTTGGGGGGGGGGG (n.2573+114_2573+115insTTGGGGGGGGGGG) n.3066+114_3066+115insTTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCAG | CA2651691051 | SLC4A11 | c.2558+114_2558+115insCTGGGGGGGGGGG (n.2558+114_2558+115insCTGGGGGGGGGGG) c.2489+114_2489+115insCTGGGGGGGGGGG (n.2489+114_2489+115insCTGGGGGGGGGGG) c.2357+114_2357+115insCTGGGGGGGGGGG (n.2357+114_2357+115insCTGGGGGGGGGGG) c.2444+114_2444+115insCTGGGGGGGGGGG (n.2444+114_2444+115insCTGGGGGGGGGGG) c.2606+114_2606+115insCTGGGGGGGGGGG (n.2606+114_2606+115insCTGGGGGGGGGGG) c.2687+114_2687+115insCTGGGGGGGGGGG (n.2687+114_2687+115insCTGGGGGGGGGGG) c.*706+114_*706+115insCTGGGGGGGGGGG (n.*706+114_*706+115insCTGGGGGGGGGGG) c.2927+114_2927+115insCTGGGGGGGGGGG (n.2927+114_2927+115insCTGGGGGGGGGGG) c.2501+114_2501+115insCTGGGGGGGGGGG (n.2501+114_2501+115insCTGGGGGGGGGGG) c.2525+114_2525+115insCTGGGGGGGGGGG (n.2525+114_2525+115insCTGGGGGGGGGGG) n.2656+114_2656+115insCTGGGGGGGGGGG c.2921+114_2921+115insCTGGGGGGGGGGG (n.2921+114_2921+115insCTGGGGGGGGGGG) n.3101+114_3101+115insCTGGGGGGGGGGG n.3081+114_3081+115insCTGGGGGGGGGGG c.2573+114_2573+115insCTGGGGGGGGGGG (n.2573+114_2573+115insCTGGGGGGGGGGG) n.3066+114_3066+115insCTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCCA | CA2651691052 | SLC4A11 | c.2558+114_2558+115insTGGGGGGGGGGGG (n.2558+114_2558+115insTGGGGGGGGGGGG) c.2489+114_2489+115insTGGGGGGGGGGGG (n.2489+114_2489+115insTGGGGGGGGGGGG) c.2357+114_2357+115insTGGGGGGGGGGGG (n.2357+114_2357+115insTGGGGGGGGGGGG) c.2444+114_2444+115insTGGGGGGGGGGGG (n.2444+114_2444+115insTGGGGGGGGGGGG) c.2606+114_2606+115insTGGGGGGGGGGGG (n.2606+114_2606+115insTGGGGGGGGGGGG) c.2687+114_2687+115insTGGGGGGGGGGGG (n.2687+114_2687+115insTGGGGGGGGGGGG) c.*706+114_*706+115insTGGGGGGGGGGGG (n.*706+114_*706+115insTGGGGGGGGGGGG) c.2927+114_2927+115insTGGGGGGGGGGGG (n.2927+114_2927+115insTGGGGGGGGGGGG) c.2501+114_2501+115insTGGGGGGGGGGGG (n.2501+114_2501+115insTGGGGGGGGGGGG) c.2525+114_2525+115insTGGGGGGGGGGGG (n.2525+114_2525+115insTGGGGGGGGGGGG) n.2656+114_2656+115insTGGGGGGGGGGGG c.2921+114_2921+115insTGGGGGGGGGGGG (n.2921+114_2921+115insTGGGGGGGGGGGG) n.3101+114_3101+115insTGGGGGGGGGGGG n.3081+114_3081+115insTGGGGGGGGGGGG c.2573+114_2573+115insTGGGGGGGGGGGG (n.2573+114_2573+115insTGGGGGGGGGGGG) n.3066+114_3066+115insTGGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCAAAA | CA2651691046 | SLC4A11 | c.2558+114_2558+115insTTTTGGGGGGGGGG (n.2558+114_2558+115insTTTTGGGGGGGGGG) c.2489+114_2489+115insTTTTGGGGGGGGGG (n.2489+114_2489+115insTTTTGGGGGGGGGG) c.2357+114_2357+115insTTTTGGGGGGGGGG (n.2357+114_2357+115insTTTTGGGGGGGGGG) c.2444+114_2444+115insTTTTGGGGGGGGGG (n.2444+114_2444+115insTTTTGGGGGGGGGG) c.2606+114_2606+115insTTTTGGGGGGGGGG (n.2606+114_2606+115insTTTTGGGGGGGGGG) c.2687+114_2687+115insTTTTGGGGGGGGGG (n.2687+114_2687+115insTTTTGGGGGGGGGG) c.*706+114_*706+115insTTTTGGGGGGGGGG (n.*706+114_*706+115insTTTTGGGGGGGGGG) c.2927+114_2927+115insTTTTGGGGGGGGGG (n.2927+114_2927+115insTTTTGGGGGGGGGG) c.2501+114_2501+115insTTTTGGGGGGGGGG (n.2501+114_2501+115insTTTTGGGGGGGGGG) c.2525+114_2525+115insTTTTGGGGGGGGGG (n.2525+114_2525+115insTTTTGGGGGGGGGG) n.2656+114_2656+115insTTTTGGGGGGGGGG c.2921+114_2921+115insTTTTGGGGGGGGGG (n.2921+114_2921+115insTTTTGGGGGGGGGG) n.3101+114_3101+115insTTTTGGGGGGGGGG n.3081+114_3081+115insTTTTGGGGGGGGGG c.2573+114_2573+115insTTTTGGGGGGGGGG (n.2573+114_2573+115insTTTTGGGGGGGGGG) n.3066+114_3066+115insTTTTGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCAAA | CA2651691050 | SLC4A11 | c.2558+114_2558+115insTTTGGGGGGGGGGG (n.2558+114_2558+115insTTTGGGGGGGGGGG) c.2489+114_2489+115insTTTGGGGGGGGGGG (n.2489+114_2489+115insTTTGGGGGGGGGGG) c.2357+114_2357+115insTTTGGGGGGGGGGG (n.2357+114_2357+115insTTTGGGGGGGGGGG) c.2444+114_2444+115insTTTGGGGGGGGGGG (n.2444+114_2444+115insTTTGGGGGGGGGGG) c.2606+114_2606+115insTTTGGGGGGGGGGG (n.2606+114_2606+115insTTTGGGGGGGGGGG) c.2687+114_2687+115insTTTGGGGGGGGGGG (n.2687+114_2687+115insTTTGGGGGGGGGGG) c.*706+114_*706+115insTTTGGGGGGGGGGG (n.*706+114_*706+115insTTTGGGGGGGGGGG) c.2927+114_2927+115insTTTGGGGGGGGGGG (n.2927+114_2927+115insTTTGGGGGGGGGGG) c.2501+114_2501+115insTTTGGGGGGGGGGG (n.2501+114_2501+115insTTTGGGGGGGGGGG) c.2525+114_2525+115insTTTGGGGGGGGGGG (n.2525+114_2525+115insTTTGGGGGGGGGGG) n.2656+114_2656+115insTTTGGGGGGGGGGG c.2921+114_2921+115insTTTGGGGGGGGGGG (n.2921+114_2921+115insTTTGGGGGGGGGGG) n.3101+114_3101+115insTTTGGGGGGGGGGG n.3081+114_3081+115insTTTGGGGGGGGGGG c.2573+114_2573+115insTTTGGGGGGGGGGG (n.2573+114_2573+115insTTTGGGGGGGGGGG) n.3066+114_3066+115insTTTGGGGGGGGGGG | gnomAD v4 |
20 | g.3228144_3228145insCCCCCCCCCCCCAA | CA2651691053 | SLC4A11 | c.2558+114_2558+115insTTGGGGGGGGGGGG (n.2558+114_2558+115insTTGGGGGGGGGGGG) c.2489+114_2489+115insTTGGGGGGGGGGGG (n.2489+114_2489+115insTTGGGGGGGGGGGG) c.2357+114_2357+115insTTGGGGGGGGGGGG (n.2357+114_2357+115insTTGGGGGGGGGGGG) c.2444+114_2444+115insTTGGGGGGGGGGGG (n.2444+114_2444+115insTTGGGGGGGGGGGG) c.2606+114_2606+115insTTGGGGGGGGGGGG (n.2606+114_2606+115insTTGGGGGGGGGGGG) c.2687+114_2687+115insTTGGGGGGGGGGGG (n.2687+114_2687+115insTTGGGGGGGGGGGG) c.*706+114_*706+115insTTGGGGGGGGGGGG (n.*706+114_*706+115insTTGGGGGGGGGGGG) c.2927+114_2927+115insTTGGGGGGGGGGGG (n.2927+114_2927+115insTTGGGGGGGGGGGG) c.2501+114_2501+115insTTGGGGGGGGGGGG (n.2501+114_2501+115insTTGGGGGGGGGGGG) c.2525+114_2525+115insTTGGGGGGGGGGGG (n.2525+114_2525+115insTTGGGGGGGGGGGG) n.2656+114_2656+115insTTGGGGGGGGGGGG c.2921+114_2921+115insTTGGGGGGGGGGGG (n.2921+114_2921+115insTTGGGGGGGGGGGG) n.3101+114_3101+115insTTGGGGGGGGGGGG n.3081+114_3081+115insTTGGGGGGGGGGGG c.2573+114_2573+115insTTGGGGGGGGGGGG (n.2573+114_2573+115insTTGGGGGGGGGGGG) n.3066+114_3066+115insTTGGGGGGGGGGGG | gnomAD v4 |
20 | g.3228145A= | CA2346474836 | SLC4A11 | c.2558+114T= (n.2558+114T=) c.2489+114T= (n.2489+114T=) c.2357+114T= (n.2357+114T=) c.2444+114T= (n.2444+114T=) c.2606+114T= (n.2606+114T=) c.2687+114T= (n.2687+114T=) c.*706+114T= (n.*706+114T=) c.2927+114T= (n.2927+114T=) c.2501+114T= (n.2501+114T=) c.2525+114T= (n.2525+114T=) n.2656+114T= c.2921+114T= (n.2921+114T=) n.3101+114T= n.3081+114T= c.2573+114T= (n.2573+114T=) n.3066+114T= | |
20 | g.3228145A>C | CA634173548 | SLC4A11 | c.2558+114T>G (n.2558+114T>G) c.2489+114T>G (n.2489+114T>G) c.2357+114T>G (n.2357+114T>G) c.2444+114T>G (n.2444+114T>G) c.2606+114T>G (n.2606+114T>G) c.2687+114T>G (n.2687+114T>G) c.*706+114T>G (n.*706+114T>G) c.2927+114T>G (n.2927+114T>G) c.2501+114T>G (n.2501+114T>G) c.2525+114T>G (n.2525+114T>G) n.2656+114T>G c.2921+114T>G (n.2921+114T>G) n.3101+114T>G n.3081+114T>G c.2573+114T>G (n.2573+114T>G) n.3066+114T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228145_3228146del | CA2651691055 | SLC4A11 | c.2558+113_2558+114del (n.2558+113_2558+114del) c.2489+113_2489+114del (n.2489+113_2489+114del) c.2357+113_2357+114del (n.2357+113_2357+114del) c.2444+113_2444+114del (n.2444+113_2444+114del) c.2606+113_2606+114del (n.2606+113_2606+114del) c.2687+113_2687+114del (n.2687+113_2687+114del) c.*706+113_*706+114del (n.*706+113_*706+114del) c.2927+113_2927+114del (n.2927+113_2927+114del) c.2501+113_2501+114del (n.2501+113_2501+114del) c.2525+113_2525+114del (n.2525+113_2525+114del) n.2656+113_2656+114del c.2921+113_2921+114del (n.2921+113_2921+114del) n.3101+113_3101+114del n.3081+113_3081+114del c.2573+113_2573+114del (n.2573+113_2573+114del) n.3066+113_3066+114del | gnomAD v4 |
20 | g.3228146dup | CA2651691059 | SLC4A11 | c.2558+114dup (n.2558+114dup) c.2489+114dup (n.2489+114dup) c.2357+114dup (n.2357+114dup) c.2444+114dup (n.2444+114dup) c.2606+114dup (n.2606+114dup) c.2687+114dup (n.2687+114dup) c.*706+114dup (n.*706+114dup) c.2927+114dup (n.2927+114dup) c.2501+114dup (n.2501+114dup) c.2525+114dup (n.2525+114dup) n.2656+114dup c.2921+114dup (n.2921+114dup) n.3101+114dup n.3081+114dup c.2573+114dup (n.2573+114dup) n.3066+114dup | gnomAD v4 |
20 | g.3228146del | CA2651691054 | SLC4A11 | c.2558+114del (n.2558+114del) c.2489+114del (n.2489+114del) c.2357+114del (n.2357+114del) c.2444+114del (n.2444+114del) c.2606+114del (n.2606+114del) c.2687+114del (n.2687+114del) c.*706+114del (n.*706+114del) c.2927+114del (n.2927+114del) c.2501+114del (n.2501+114del) c.2525+114del (n.2525+114del) n.2656+114del c.2921+114del (n.2921+114del) n.3101+114del n.3081+114del c.2573+114del (n.2573+114del) n.3066+114del | gnomAD v4 |
20 | g.3228145_3228150del | CA2651691056 | SLC4A11 | c.2558+109_2558+114del (n.2558+109_2558+114del) c.2489+109_2489+114del (n.2489+109_2489+114del) c.2357+109_2357+114del (n.2357+109_2357+114del) c.2444+109_2444+114del (n.2444+109_2444+114del) c.2606+109_2606+114del (n.2606+109_2606+114del) c.2687+109_2687+114del (n.2687+109_2687+114del) c.*706+109_*706+114del (n.*706+109_*706+114del) c.2927+109_2927+114del (n.2927+109_2927+114del) c.2501+109_2501+114del (n.2501+109_2501+114del) c.2525+109_2525+114del (n.2525+109_2525+114del) n.2656+109_2656+114del c.2921+109_2921+114del (n.2921+109_2921+114del) n.3101+109_3101+114del n.3081+109_3081+114del c.2573+109_2573+114del (n.2573+109_2573+114del) n.3066+109_3066+114del | gnomAD v4 |
20 | g.3228145_3228146insC | CA2651691074 | SLC4A11 | c.2558+113_2558+114insG (n.2558+113_2558+114insG) c.2489+113_2489+114insG (n.2489+113_2489+114insG) c.2357+113_2357+114insG (n.2357+113_2357+114insG) c.2444+113_2444+114insG (n.2444+113_2444+114insG) c.2606+113_2606+114insG (n.2606+113_2606+114insG) c.2687+113_2687+114insG (n.2687+113_2687+114insG) c.*706+113_*706+114insG (n.*706+113_*706+114insG) c.2927+113_2927+114insG (n.2927+113_2927+114insG) c.2501+113_2501+114insG (n.2501+113_2501+114insG) c.2525+113_2525+114insG (n.2525+113_2525+114insG) n.2656+113_2656+114insG c.2921+113_2921+114insG (n.2921+113_2921+114insG) n.3101+113_3101+114insG n.3081+113_3081+114insG c.2573+113_2573+114insG (n.2573+113_2573+114insG) n.3066+113_3066+114insG | gnomAD v4 |
20 | g.3228145_3228146insCCCTC | CA2815075147 | SLC4A11 | c.2558+113_2558+114insGAGGG (n.2558+113_2558+114insGAGGG) c.2489+113_2489+114insGAGGG (n.2489+113_2489+114insGAGGG) c.2357+113_2357+114insGAGGG (n.2357+113_2357+114insGAGGG) c.2444+113_2444+114insGAGGG (n.2444+113_2444+114insGAGGG) c.2606+113_2606+114insGAGGG (n.2606+113_2606+114insGAGGG) c.2687+113_2687+114insGAGGG (n.2687+113_2687+114insGAGGG) c.*706+113_*706+114insGAGGG (n.*706+113_*706+114insGAGGG) c.2927+113_2927+114insGAGGG (n.2927+113_2927+114insGAGGG) c.2501+113_2501+114insGAGGG (n.2501+113_2501+114insGAGGG) c.2525+113_2525+114insGAGGG (n.2525+113_2525+114insGAGGG) n.2656+113_2656+114insGAGGG c.2921+113_2921+114insGAGGG (n.2921+113_2921+114insGAGGG) n.3101+113_3101+114insGAGGG n.3081+113_3081+114insGAGGG c.2573+113_2573+114insGAGGG (n.2573+113_2573+114insGAGGG) n.3066+113_3066+114insGAGGG | |
20 | g.3228146A= | CA2346474837 | SLC4A11 | c.2558+113T= (n.2558+113T=) c.2489+113T= (n.2489+113T=) c.2357+113T= (n.2357+113T=) c.2444+113T= (n.2444+113T=) c.2606+113T= (n.2606+113T=) c.2687+113T= (n.2687+113T=) c.*706+113T= (n.*706+113T=) c.2927+113T= (n.2927+113T=) c.2501+113T= (n.2501+113T=) c.2525+113T= (n.2525+113T=) n.2656+113T= c.2921+113T= (n.2921+113T=) n.3101+113T= n.3081+113T= c.2573+113T= (n.2573+113T=) n.3066+113T= | |
20 | g.3228146A>C | CA743608850 | SLC4A11 | c.2558+113T>G (n.2558+113T>G) c.2489+113T>G (n.2489+113T>G) c.2357+113T>G (n.2357+113T>G) c.2444+113T>G (n.2444+113T>G) c.2606+113T>G (n.2606+113T>G) c.2687+113T>G (n.2687+113T>G) c.*706+113T>G (n.*706+113T>G) c.2927+113T>G (n.2927+113T>G) c.2501+113T>G (n.2501+113T>G) c.2525+113T>G (n.2525+113T>G) n.2656+113T>G c.2921+113T>G (n.2921+113T>G) n.3101+113T>G n.3081+113T>G c.2573+113T>G (n.2573+113T>G) n.3066+113T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228146A>G | CA634173549 | SLC4A11 | c.2558+113T>C (n.2558+113T>C) c.2489+113T>C (n.2489+113T>C) c.2357+113T>C (n.2357+113T>C) c.2444+113T>C (n.2444+113T>C) c.2606+113T>C (n.2606+113T>C) c.2687+113T>C (n.2687+113T>C) c.*706+113T>C (n.*706+113T>C) c.2927+113T>C (n.2927+113T>C) c.2501+113T>C (n.2501+113T>C) c.2525+113T>C (n.2525+113T>C) n.2656+113T>C c.2921+113T>C (n.2921+113T>C) n.3101+113T>C n.3081+113T>C c.2573+113T>C (n.2573+113T>C) n.3066+113T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228146_3228147insATA | CA2651691073 | SLC4A11 | c.2558+113_2558+114insATT (n.2558+113_2558+114insATT) c.2489+113_2489+114insATT (n.2489+113_2489+114insATT) c.2357+113_2357+114insATT (n.2357+113_2357+114insATT) c.2444+113_2444+114insATT (n.2444+113_2444+114insATT) c.2606+113_2606+114insATT (n.2606+113_2606+114insATT) c.2687+113_2687+114insATT (n.2687+113_2687+114insATT) c.*706+113_*706+114insATT (n.*706+113_*706+114insATT) c.2927+113_2927+114insATT (n.2927+113_2927+114insATT) c.2501+113_2501+114insATT (n.2501+113_2501+114insATT) c.2525+113_2525+114insATT (n.2525+113_2525+114insATT) n.2656+113_2656+114insATT c.2921+113_2921+114insATT (n.2921+113_2921+114insATT) n.3101+113_3101+114insATT n.3081+113_3081+114insATT c.2573+113_2573+114insATT (n.2573+113_2573+114insATT) n.3066+113_3066+114insATT | gnomAD v4 |
20 | g.3228146_3228147insAAC | CA2651691085 | SLC4A11 | c.2558+112_2558+113insGTT (n.2558+112_2558+113insGTT) c.2489+112_2489+113insGTT (n.2489+112_2489+113insGTT) c.2357+112_2357+113insGTT (n.2357+112_2357+113insGTT) c.2444+112_2444+113insGTT (n.2444+112_2444+113insGTT) c.2606+112_2606+113insGTT (n.2606+112_2606+113insGTT) c.2687+112_2687+113insGTT (n.2687+112_2687+113insGTT) c.*706+112_*706+113insGTT (n.*706+112_*706+113insGTT) c.2927+112_2927+113insGTT (n.2927+112_2927+113insGTT) c.2501+112_2501+113insGTT (n.2501+112_2501+113insGTT) c.2525+112_2525+113insGTT (n.2525+112_2525+113insGTT) n.2656+112_2656+113insGTT c.2921+112_2921+113insGTT (n.2921+112_2921+113insGTT) n.3101+112_3101+113insGTT n.3081+112_3081+113insGTT c.2573+112_2573+113insGTT (n.2573+112_2573+113insGTT) n.3066+112_3066+113insGTT | gnomAD v4 |
20 | g.3228146_3228147insAGAC | CA2651691084 | SLC4A11 | c.2558+112_2558+113insGTCT (n.2558+112_2558+113insGTCT) c.2489+112_2489+113insGTCT (n.2489+112_2489+113insGTCT) c.2357+112_2357+113insGTCT (n.2357+112_2357+113insGTCT) c.2444+112_2444+113insGTCT (n.2444+112_2444+113insGTCT) c.2606+112_2606+113insGTCT (n.2606+112_2606+113insGTCT) c.2687+112_2687+113insGTCT (n.2687+112_2687+113insGTCT) c.*706+112_*706+113insGTCT (n.*706+112_*706+113insGTCT) c.2927+112_2927+113insGTCT (n.2927+112_2927+113insGTCT) c.2501+112_2501+113insGTCT (n.2501+112_2501+113insGTCT) c.2525+112_2525+113insGTCT (n.2525+112_2525+113insGTCT) n.2656+112_2656+113insGTCT c.2921+112_2921+113insGTCT (n.2921+112_2921+113insGTCT) n.3101+112_3101+113insGTCT n.3081+112_3081+113insGTCT c.2573+112_2573+113insGTCT (n.2573+112_2573+113insGTCT) n.3066+112_3066+113insGTCT | gnomAD v4 |
20 | g.3228147C>A | CA2524350356 | SLC4A11 | c.2558+112G>T (n.2558+112G>T) c.2489+112G>T (n.2489+112G>T) c.2357+112G>T (n.2357+112G>T) c.2444+112G>T (n.2444+112G>T) c.2606+112G>T (n.2606+112G>T) c.2687+112G>T (n.2687+112G>T) c.*706+112G>T (n.*706+112G>T) c.2927+112G>T (n.2927+112G>T) c.2501+112G>T (n.2501+112G>T) c.2525+112G>T (n.2525+112G>T) n.2656+112G>T c.2921+112G>T (n.2921+112G>T) n.3101+112G>T n.3081+112G>T c.2573+112G>T (n.2573+112G>T) n.3066+112G>T | gnomAD v4 |
20 | g.3228147C>T | CA2651691075 | SLC4A11 | c.2558+112G>A (n.2558+112G>A) c.2489+112G>A (n.2489+112G>A) c.2357+112G>A (n.2357+112G>A) c.2444+112G>A (n.2444+112G>A) c.2606+112G>A (n.2606+112G>A) c.2687+112G>A (n.2687+112G>A) c.*706+112G>A (n.*706+112G>A) c.2927+112G>A (n.2927+112G>A) c.2501+112G>A (n.2501+112G>A) c.2525+112G>A (n.2525+112G>A) n.2656+112G>A c.2921+112G>A (n.2921+112G>A) n.3101+112G>A n.3081+112G>A c.2573+112G>A (n.2573+112G>A) n.3066+112G>A | gnomAD v4 |
20 | g.3228149_3228150insCCCCC | CA2651691076 | SLC4A11 | c.2558+112_2558+113insGGGGG (n.2558+112_2558+113insGGGGG) c.2489+112_2489+113insGGGGG (n.2489+112_2489+113insGGGGG) c.2357+112_2357+113insGGGGG (n.2357+112_2357+113insGGGGG) c.2444+112_2444+113insGGGGG (n.2444+112_2444+113insGGGGG) c.2606+112_2606+113insGGGGG (n.2606+112_2606+113insGGGGG) c.2687+112_2687+113insGGGGG (n.2687+112_2687+113insGGGGG) c.*706+112_*706+113insGGGGG (n.*706+112_*706+113insGGGGG) c.2927+112_2927+113insGGGGG (n.2927+112_2927+113insGGGGG) c.2501+112_2501+113insGGGGG (n.2501+112_2501+113insGGGGG) c.2525+112_2525+113insGGGGG (n.2525+112_2525+113insGGGGG) n.2656+112_2656+113insGGGGG c.2921+112_2921+113insGGGGG (n.2921+112_2921+113insGGGGG) n.3101+112_3101+113insGGGGG n.3081+112_3081+113insGGGGG c.2573+112_2573+113insGGGGG (n.2573+112_2573+113insGGGGG) n.3066+112_3066+113insGGGGG | gnomAD v4 |
20 | g.3228149_3228150insCCCCATTTCCCCCCCC | CA2815075148 | SLC4A11 | c.2558+112_2558+113insGGGGGAAATGGGGGGG (n.2558+112_2558+113insGGGGGAAATGGGGGGG) c.2489+112_2489+113insGGGGGAAATGGGGGGG (n.2489+112_2489+113insGGGGGAAATGGGGGGG) c.2357+112_2357+113insGGGGGAAATGGGGGGG (n.2357+112_2357+113insGGGGGAAATGGGGGGG) c.2444+112_2444+113insGGGGGAAATGGGGGGG (n.2444+112_2444+113insGGGGGAAATGGGGGGG) c.2606+112_2606+113insGGGGGAAATGGGGGGG (n.2606+112_2606+113insGGGGGAAATGGGGGGG) c.2687+112_2687+113insGGGGGAAATGGGGGGG (n.2687+112_2687+113insGGGGGAAATGGGGGGG) c.*706+112_*706+113insGGGGGAAATGGGGGGG (n.*706+112_*706+113insGGGGGAAATGGGGGGG) c.2927+112_2927+113insGGGGGAAATGGGGGGG (n.2927+112_2927+113insGGGGGAAATGGGGGGG) c.2501+112_2501+113insGGGGGAAATGGGGGGG (n.2501+112_2501+113insGGGGGAAATGGGGGGG) c.2525+112_2525+113insGGGGGAAATGGGGGGG (n.2525+112_2525+113insGGGGGAAATGGGGGGG) n.2656+112_2656+113insGGGGGAAATGGGGGGG c.2921+112_2921+113insGGGGGAAATGGGGGGG (n.2921+112_2921+113insGGGGGAAATGGGGGGG) n.3101+112_3101+113insGGGGGAAATGGGGGGG n.3081+112_3081+113insGGGGGAAATGGGGGGG c.2573+112_2573+113insGGGGGAAATGGGGGGG (n.2573+112_2573+113insGGGGGAAATGGGGGGG) n.3066+112_3066+113insGGGGGAAATGGGGGGG | |
20 | g.3228149_3228150insCCCCCCTCTCCCCCCC | CA2651691081 | SLC4A11 | c.2558+112_2558+113insGGGGAGAGGGGGGGGG (n.2558+112_2558+113insGGGGAGAGGGGGGGGG) c.2489+112_2489+113insGGGGAGAGGGGGGGGG (n.2489+112_2489+113insGGGGAGAGGGGGGGGG) c.2357+112_2357+113insGGGGAGAGGGGGGGGG (n.2357+112_2357+113insGGGGAGAGGGGGGGGG) c.2444+112_2444+113insGGGGAGAGGGGGGGGG (n.2444+112_2444+113insGGGGAGAGGGGGGGGG) c.2606+112_2606+113insGGGGAGAGGGGGGGGG (n.2606+112_2606+113insGGGGAGAGGGGGGGGG) c.2687+112_2687+113insGGGGAGAGGGGGGGGG (n.2687+112_2687+113insGGGGAGAGGGGGGGGG) c.*706+112_*706+113insGGGGAGAGGGGGGGGG (n.*706+112_*706+113insGGGGAGAGGGGGGGGG) c.2927+112_2927+113insGGGGAGAGGGGGGGGG (n.2927+112_2927+113insGGGGAGAGGGGGGGGG) c.2501+112_2501+113insGGGGAGAGGGGGGGGG (n.2501+112_2501+113insGGGGAGAGGGGGGGGG) c.2525+112_2525+113insGGGGAGAGGGGGGGGG (n.2525+112_2525+113insGGGGAGAGGGGGGGGG) n.2656+112_2656+113insGGGGAGAGGGGGGGGG c.2921+112_2921+113insGGGGAGAGGGGGGGGG (n.2921+112_2921+113insGGGGAGAGGGGGGGGG) n.3101+112_3101+113insGGGGAGAGGGGGGGGG n.3081+112_3081+113insGGGGAGAGGGGGGGGG c.2573+112_2573+113insGGGGAGAGGGGGGGGG (n.2573+112_2573+113insGGGGAGAGGGGGGGGG) n.3066+112_3066+113insGGGGAGAGGGGGGGGG | gnomAD v4 |
20 | g.3228149_3228150insCCCCCTTCTCCCCCCC | CA2651691078 | SLC4A11 | c.2558+112_2558+113insGGGGAGAAGGGGGGGG (n.2558+112_2558+113insGGGGAGAAGGGGGGGG) c.2489+112_2489+113insGGGGAGAAGGGGGGGG (n.2489+112_2489+113insGGGGAGAAGGGGGGGG) c.2357+112_2357+113insGGGGAGAAGGGGGGGG (n.2357+112_2357+113insGGGGAGAAGGGGGGGG) c.2444+112_2444+113insGGGGAGAAGGGGGGGG (n.2444+112_2444+113insGGGGAGAAGGGGGGGG) c.2606+112_2606+113insGGGGAGAAGGGGGGGG (n.2606+112_2606+113insGGGGAGAAGGGGGGGG) c.2687+112_2687+113insGGGGAGAAGGGGGGGG (n.2687+112_2687+113insGGGGAGAAGGGGGGGG) c.*706+112_*706+113insGGGGAGAAGGGGGGGG (n.*706+112_*706+113insGGGGAGAAGGGGGGGG) c.2927+112_2927+113insGGGGAGAAGGGGGGGG (n.2927+112_2927+113insGGGGAGAAGGGGGGGG) c.2501+112_2501+113insGGGGAGAAGGGGGGGG (n.2501+112_2501+113insGGGGAGAAGGGGGGGG) c.2525+112_2525+113insGGGGAGAAGGGGGGGG (n.2525+112_2525+113insGGGGAGAAGGGGGGGG) n.2656+112_2656+113insGGGGAGAAGGGGGGGG c.2921+112_2921+113insGGGGAGAAGGGGGGGG (n.2921+112_2921+113insGGGGAGAAGGGGGGGG) n.3101+112_3101+113insGGGGAGAAGGGGGGGG n.3081+112_3081+113insGGGGAGAAGGGGGGGG c.2573+112_2573+113insGGGGAGAAGGGGGGGG (n.2573+112_2573+113insGGGGAGAAGGGGGGGG) n.3066+112_3066+113insGGGGAGAAGGGGGGGG | gnomAD v4 |
20 | g.3228149_3228150insCCCCCCTCTCCCCCCCC | CA2651691080 | SLC4A11 | c.2558+112_2558+113insGGGGGAGAGGGGGGGGG (n.2558+112_2558+113insGGGGGAGAGGGGGGGGG) c.2489+112_2489+113insGGGGGAGAGGGGGGGGG (n.2489+112_2489+113insGGGGGAGAGGGGGGGGG) c.2357+112_2357+113insGGGGGAGAGGGGGGGGG (n.2357+112_2357+113insGGGGGAGAGGGGGGGGG) c.2444+112_2444+113insGGGGGAGAGGGGGGGGG (n.2444+112_2444+113insGGGGGAGAGGGGGGGGG) c.2606+112_2606+113insGGGGGAGAGGGGGGGGG (n.2606+112_2606+113insGGGGGAGAGGGGGGGGG) c.2687+112_2687+113insGGGGGAGAGGGGGGGGG (n.2687+112_2687+113insGGGGGAGAGGGGGGGGG) c.*706+112_*706+113insGGGGGAGAGGGGGGGGG (n.*706+112_*706+113insGGGGGAGAGGGGGGGGG) c.2927+112_2927+113insGGGGGAGAGGGGGGGGG (n.2927+112_2927+113insGGGGGAGAGGGGGGGGG) c.2501+112_2501+113insGGGGGAGAGGGGGGGGG (n.2501+112_2501+113insGGGGGAGAGGGGGGGGG) c.2525+112_2525+113insGGGGGAGAGGGGGGGGG (n.2525+112_2525+113insGGGGGAGAGGGGGGGGG) n.2656+112_2656+113insGGGGGAGAGGGGGGGGG c.2921+112_2921+113insGGGGGAGAGGGGGGGGG (n.2921+112_2921+113insGGGGGAGAGGGGGGGGG) n.3101+112_3101+113insGGGGGAGAGGGGGGGGG n.3081+112_3081+113insGGGGGAGAGGGGGGGGG c.2573+112_2573+113insGGGGGAGAGGGGGGGGG (n.2573+112_2573+113insGGGGGAGAGGGGGGGGG) n.3066+112_3066+113insGGGGGAGAGGGGGGGGG | gnomAD v4 |
20 | g.3228149_3228150insCCCCCTTCTCCCCCCCC | CA2651691077 | SLC4A11 | c.2558+112_2558+113insGGGGGAGAAGGGGGGGG (n.2558+112_2558+113insGGGGGAGAAGGGGGGGG) c.2489+112_2489+113insGGGGGAGAAGGGGGGGG (n.2489+112_2489+113insGGGGGAGAAGGGGGGGG) c.2357+112_2357+113insGGGGGAGAAGGGGGGGG (n.2357+112_2357+113insGGGGGAGAAGGGGGGGG) c.2444+112_2444+113insGGGGGAGAAGGGGGGGG (n.2444+112_2444+113insGGGGGAGAAGGGGGGGG) c.2606+112_2606+113insGGGGGAGAAGGGGGGGG (n.2606+112_2606+113insGGGGGAGAAGGGGGGGG) c.2687+112_2687+113insGGGGGAGAAGGGGGGGG (n.2687+112_2687+113insGGGGGAGAAGGGGGGGG) c.*706+112_*706+113insGGGGGAGAAGGGGGGGG (n.*706+112_*706+113insGGGGGAGAAGGGGGGGG) c.2927+112_2927+113insGGGGGAGAAGGGGGGGG (n.2927+112_2927+113insGGGGGAGAAGGGGGGGG) c.2501+112_2501+113insGGGGGAGAAGGGGGGGG (n.2501+112_2501+113insGGGGGAGAAGGGGGGGG) c.2525+112_2525+113insGGGGGAGAAGGGGGGGG (n.2525+112_2525+113insGGGGGAGAAGGGGGGGG) n.2656+112_2656+113insGGGGGAGAAGGGGGGGG c.2921+112_2921+113insGGGGGAGAAGGGGGGGG (n.2921+112_2921+113insGGGGGAGAAGGGGGGGG) n.3101+112_3101+113insGGGGGAGAAGGGGGGGG n.3081+112_3081+113insGGGGGAGAAGGGGGGGG c.2573+112_2573+113insGGGGGAGAAGGGGGGGG (n.2573+112_2573+113insGGGGGAGAAGGGGGGGG) n.3066+112_3066+113insGGGGGAGAAGGGGGGGG | gnomAD v4 |
20 | g.3228149_3228150insCCCCCCTCTCCCCCCCCC | CA2651691079 | SLC4A11 | c.2558+112_2558+113insGGGGGGAGAGGGGGGGGG (n.2558+112_2558+113insGGGGGGAGAGGGGGGGGG) c.2489+112_2489+113insGGGGGGAGAGGGGGGGGG (n.2489+112_2489+113insGGGGGGAGAGGGGGGGGG) c.2357+112_2357+113insGGGGGGAGAGGGGGGGGG (n.2357+112_2357+113insGGGGGGAGAGGGGGGGGG) c.2444+112_2444+113insGGGGGGAGAGGGGGGGGG (n.2444+112_2444+113insGGGGGGAGAGGGGGGGGG) c.2606+112_2606+113insGGGGGGAGAGGGGGGGGG (n.2606+112_2606+113insGGGGGGAGAGGGGGGGGG) c.2687+112_2687+113insGGGGGGAGAGGGGGGGGG (n.2687+112_2687+113insGGGGGGAGAGGGGGGGGG) c.*706+112_*706+113insGGGGGGAGAGGGGGGGGG (n.*706+112_*706+113insGGGGGGAGAGGGGGGGGG) c.2927+112_2927+113insGGGGGGAGAGGGGGGGGG (n.2927+112_2927+113insGGGGGGAGAGGGGGGGGG) c.2501+112_2501+113insGGGGGGAGAGGGGGGGGG (n.2501+112_2501+113insGGGGGGAGAGGGGGGGGG) c.2525+112_2525+113insGGGGGGAGAGGGGGGGGG (n.2525+112_2525+113insGGGGGGAGAGGGGGGGGG) n.2656+112_2656+113insGGGGGGAGAGGGGGGGGG c.2921+112_2921+113insGGGGGGAGAGGGGGGGGG (n.2921+112_2921+113insGGGGGGAGAGGGGGGGGG) n.3101+112_3101+113insGGGGGGAGAGGGGGGGGG n.3081+112_3081+113insGGGGGGAGAGGGGGGGGG c.2573+112_2573+113insGGGGGGAGAGGGGGGGGG (n.2573+112_2573+113insGGGGGGAGAGGGGGGGGG) n.3066+112_3066+113insGGGGGGAGAGGGGGGGGG | gnomAD v4 |
20 | g.3228149dup | CA2651691083 | SLC4A11 | c.2558+112dup (n.2558+112dup) c.2489+112dup (n.2489+112dup) c.2357+112dup (n.2357+112dup) c.2444+112dup (n.2444+112dup) c.2606+112dup (n.2606+112dup) c.2687+112dup (n.2687+112dup) c.*706+112dup (n.*706+112dup) c.2927+112dup (n.2927+112dup) c.2501+112dup (n.2501+112dup) c.2525+112dup (n.2525+112dup) n.2656+112dup c.2921+112dup (n.2921+112dup) n.3101+112dup n.3081+112dup c.2573+112dup (n.2573+112dup) n.3066+112dup | gnomAD v4 |
20 | g.3228148_3228149dup | CA2651691082 | SLC4A11 | c.2558+111_2558+112dup (n.2558+111_2558+112dup) c.2489+111_2489+112dup (n.2489+111_2489+112dup) c.2357+111_2357+112dup (n.2357+111_2357+112dup) c.2444+111_2444+112dup (n.2444+111_2444+112dup) c.2606+111_2606+112dup (n.2606+111_2606+112dup) c.2687+111_2687+112dup (n.2687+111_2687+112dup) c.*706+111_*706+112dup (n.*706+111_*706+112dup) c.2927+111_2927+112dup (n.2927+111_2927+112dup) c.2501+111_2501+112dup (n.2501+111_2501+112dup) c.2525+111_2525+112dup (n.2525+111_2525+112dup) n.2656+111_2656+112dup c.2921+111_2921+112dup (n.2921+111_2921+112dup) n.3101+111_3101+112dup n.3081+111_3081+112dup c.2573+111_2573+112dup (n.2573+111_2573+112dup) n.3066+111_3066+112dup | gnomAD v4 |
20 | g.3228161_3228213del | CA1014849476 | SLC4A11 | c.2558+60_2558+112del (n.2558+60_2558+112del) c.2489+60_2489+112del (n.2489+60_2489+112del) c.2357+60_2357+112del (n.2357+60_2357+112del) c.2444+60_2444+112del (n.2444+60_2444+112del) c.2606+60_2606+112del (n.2606+60_2606+112del) c.2687+60_2687+112del (n.2687+60_2687+112del) c.*706+60_*706+112del (n.*706+60_*706+112del) c.2927+60_2927+112del (n.2927+60_2927+112del) c.2501+60_2501+112del (n.2501+60_2501+112del) c.2525+60_2525+112del (n.2525+60_2525+112del) n.2656+60_2656+112del c.2921+60_2921+112del (n.2921+60_2921+112del) n.3101+60_3101+112del n.3081+60_3081+112del c.2573+60_2573+112del (n.2573+60_2573+112del) n.3066+60_3066+112del | gnomAD v3 gnomAD v4 |
20 | g.3228147_3228148insA | CA2651691086 | SLC4A11 | c.2558+111_2558+112insT (n.2558+111_2558+112insT) c.2489+111_2489+112insT (n.2489+111_2489+112insT) c.2357+111_2357+112insT (n.2357+111_2357+112insT) c.2444+111_2444+112insT (n.2444+111_2444+112insT) c.2606+111_2606+112insT (n.2606+111_2606+112insT) c.2687+111_2687+112insT (n.2687+111_2687+112insT) c.*706+111_*706+112insT (n.*706+111_*706+112insT) c.2927+111_2927+112insT (n.2927+111_2927+112insT) c.2501+111_2501+112insT (n.2501+111_2501+112insT) c.2525+111_2525+112insT (n.2525+111_2525+112insT) n.2656+111_2656+112insT c.2921+111_2921+112insT (n.2921+111_2921+112insT) n.3101+111_3101+112insT n.3081+111_3081+112insT c.2573+111_2573+112insT (n.2573+111_2573+112insT) n.3066+111_3066+112insT | gnomAD v4 |
20 | g.3228148C>A | CA2651691088 | SLC4A11 | c.2558+111G>T (n.2558+111G>T) c.2489+111G>T (n.2489+111G>T) c.2357+111G>T (n.2357+111G>T) c.2444+111G>T (n.2444+111G>T) c.2606+111G>T (n.2606+111G>T) c.2687+111G>T (n.2687+111G>T) c.*706+111G>T (n.*706+111G>T) c.2927+111G>T (n.2927+111G>T) c.2501+111G>T (n.2501+111G>T) c.2525+111G>T (n.2525+111G>T) n.2656+111G>T c.2921+111G>T (n.2921+111G>T) n.3101+111G>T n.3081+111G>T c.2573+111G>T (n.2573+111G>T) n.3066+111G>T | gnomAD v4 |
20 | g.3228148C>T | CA2651691087 | SLC4A11 | c.2558+111G>A (n.2558+111G>A) c.2489+111G>A (n.2489+111G>A) c.2357+111G>A (n.2357+111G>A) c.2444+111G>A (n.2444+111G>A) c.2606+111G>A (n.2606+111G>A) c.2687+111G>A (n.2687+111G>A) c.*706+111G>A (n.*706+111G>A) c.2927+111G>A (n.2927+111G>A) c.2501+111G>A (n.2501+111G>A) c.2525+111G>A (n.2525+111G>A) n.2656+111G>A c.2921+111G>A (n.2921+111G>A) n.3101+111G>A n.3081+111G>A c.2573+111G>A (n.2573+111G>A) n.3066+111G>A | gnomAD v4 |
20 | g.3228149C>A | CA2651691090 | SLC4A11 | c.2558+110G>T (n.2558+110G>T) c.2489+110G>T (n.2489+110G>T) c.2357+110G>T (n.2357+110G>T) c.2444+110G>T (n.2444+110G>T) c.2606+110G>T (n.2606+110G>T) c.2687+110G>T (n.2687+110G>T) c.*706+110G>T (n.*706+110G>T) c.2927+110G>T (n.2927+110G>T) c.2501+110G>T (n.2501+110G>T) c.2525+110G>T (n.2525+110G>T) n.2656+110G>T c.2921+110G>T (n.2921+110G>T) n.3101+110G>T n.3081+110G>T c.2573+110G>T (n.2573+110G>T) n.3066+110G>T | gnomAD v4 |
20 | g.3228149C= | CA2346474838 | SLC4A11 | c.2558+110G= (n.2558+110G=) c.2489+110G= (n.2489+110G=) c.2357+110G= (n.2357+110G=) c.2444+110G= (n.2444+110G=) c.2606+110G= (n.2606+110G=) c.2687+110G= (n.2687+110G=) c.*706+110G= (n.*706+110G=) c.2927+110G= (n.2927+110G=) c.2501+110G= (n.2501+110G=) c.2525+110G= (n.2525+110G=) n.2656+110G= c.2921+110G= (n.2921+110G=) n.3101+110G= n.3081+110G= c.2573+110G= (n.2573+110G=) n.3066+110G= | |
20 | g.3228149C>T | CA634173550 | SLC4A11 | c.2558+110G>A (n.2558+110G>A) c.2489+110G>A (n.2489+110G>A) c.2357+110G>A (n.2357+110G>A) c.2444+110G>A (n.2444+110G>A) c.2606+110G>A (n.2606+110G>A) c.2687+110G>A (n.2687+110G>A) c.*706+110G>A (n.*706+110G>A) c.2927+110G>A (n.2927+110G>A) c.2501+110G>A (n.2501+110G>A) c.2525+110G>A (n.2525+110G>A) n.2656+110G>A c.2921+110G>A (n.2921+110G>A) n.3101+110G>A n.3081+110G>A c.2573+110G>A (n.2573+110G>A) n.3066+110G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228150_3228151del | CA2651691089 | SLC4A11 | c.2558+109_2558+110del (n.2558+109_2558+110del) c.2489+109_2489+110del (n.2489+109_2489+110del) c.2357+109_2357+110del (n.2357+109_2357+110del) c.2444+109_2444+110del (n.2444+109_2444+110del) c.2606+109_2606+110del (n.2606+109_2606+110del) c.2687+109_2687+110del (n.2687+109_2687+110del) c.*706+109_*706+110del (n.*706+109_*706+110del) c.2927+109_2927+110del (n.2927+109_2927+110del) c.2501+109_2501+110del (n.2501+109_2501+110del) c.2525+109_2525+110del (n.2525+109_2525+110del) n.2656+109_2656+110del c.2921+109_2921+110del (n.2921+109_2921+110del) n.3101+109_3101+110del n.3081+109_3081+110del c.2573+109_2573+110del (n.2573+109_2573+110del) n.3066+109_3066+110del | gnomAD v4 |
20 | g.3228150del | CA2651691091 | SLC4A11 | c.2558+109del (n.2558+109del) c.2489+109del (n.2489+109del) c.2357+109del (n.2357+109del) c.2444+109del (n.2444+109del) c.2606+109del (n.2606+109del) c.2687+109del (n.2687+109del) c.*706+109del (n.*706+109del) c.2927+109del (n.2927+109del) c.2501+109del (n.2501+109del) c.2525+109del (n.2525+109del) n.2656+109del c.2921+109del (n.2921+109del) n.3101+109del n.3081+109del c.2573+109del (n.2573+109del) n.3066+109del | gnomAD v4 |
20 | g.3228150G>A | CA310984558 | SLC4A11 | c.2558+109C>T (n.2558+109C>T) c.2489+109C>T (n.2489+109C>T) c.2357+109C>T (n.2357+109C>T) c.2444+109C>T (n.2444+109C>T) c.2606+109C>T (n.2606+109C>T) c.2687+109C>T (n.2687+109C>T) c.*706+109C>T (n.*706+109C>T) c.2927+109C>T (n.2927+109C>T) c.2501+109C>T (n.2501+109C>T) c.2525+109C>T (n.2525+109C>T) n.2656+109C>T c.2921+109C>T (n.2921+109C>T) n.3101+109C>T n.3081+109C>T c.2573+109C>T (n.2573+109C>T) n.3066+109C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228150G>C | CA634173551 | SLC4A11 | c.2558+109C>G (n.2558+109C>G) c.2489+109C>G (n.2489+109C>G) c.2357+109C>G (n.2357+109C>G) c.2444+109C>G (n.2444+109C>G) c.2606+109C>G (n.2606+109C>G) c.2687+109C>G (n.2687+109C>G) c.*706+109C>G (n.*706+109C>G) c.2927+109C>G (n.2927+109C>G) c.2501+109C>G (n.2501+109C>G) c.2525+109C>G (n.2525+109C>G) n.2656+109C>G c.2921+109C>G (n.2921+109C>G) n.3101+109C>G n.3081+109C>G c.2573+109C>G (n.2573+109C>G) n.3066+109C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228150G= | CA2346474839 | SLC4A11 | c.2558+109C= (n.2558+109C=) c.2489+109C= (n.2489+109C=) c.2357+109C= (n.2357+109C=) c.2444+109C= (n.2444+109C=) c.2606+109C= (n.2606+109C=) c.2687+109C= (n.2687+109C=) c.*706+109C= (n.*706+109C=) c.2927+109C= (n.2927+109C=) c.2501+109C= (n.2501+109C=) c.2525+109C= (n.2525+109C=) n.2656+109C= c.2921+109C= (n.2921+109C=) n.3101+109C= n.3081+109C= c.2573+109C= (n.2573+109C=) n.3066+109C= | |
20 | g.3228150G>T | CA2651691092 | SLC4A11 | c.2558+109C>A (n.2558+109C>A) c.2489+109C>A (n.2489+109C>A) c.2357+109C>A (n.2357+109C>A) c.2444+109C>A (n.2444+109C>A) c.2606+109C>A (n.2606+109C>A) c.2687+109C>A (n.2687+109C>A) c.*706+109C>A (n.*706+109C>A) c.2927+109C>A (n.2927+109C>A) c.2501+109C>A (n.2501+109C>A) c.2525+109C>A (n.2525+109C>A) n.2656+109C>A c.2921+109C>A (n.2921+109C>A) n.3101+109C>A n.3081+109C>A c.2573+109C>A (n.2573+109C>A) n.3066+109C>A | gnomAD v4 |
20 | g.3228151C>A | CA2512727756 | SLC4A11 | c.2558+108G>T (n.2558+108G>T) c.2489+108G>T (n.2489+108G>T) c.2357+108G>T (n.2357+108G>T) c.2444+108G>T (n.2444+108G>T) c.2606+108G>T (n.2606+108G>T) c.2687+108G>T (n.2687+108G>T) c.*706+108G>T (n.*706+108G>T) c.2927+108G>T (n.2927+108G>T) c.2501+108G>T (n.2501+108G>T) c.2525+108G>T (n.2525+108G>T) n.2656+108G>T c.2921+108G>T (n.2921+108G>T) n.3101+108G>T n.3081+108G>T c.2573+108G>T (n.2573+108G>T) n.3066+108G>T | gnomAD v4 |
20 | g.3228151C>T | CA2651691093 | SLC4A11 | c.2558+108G>A (n.2558+108G>A) c.2489+108G>A (n.2489+108G>A) c.2357+108G>A (n.2357+108G>A) c.2444+108G>A (n.2444+108G>A) c.2606+108G>A (n.2606+108G>A) c.2687+108G>A (n.2687+108G>A) c.*706+108G>A (n.*706+108G>A) c.2927+108G>A (n.2927+108G>A) c.2501+108G>A (n.2501+108G>A) c.2525+108G>A (n.2525+108G>A) n.2656+108G>A c.2921+108G>A (n.2921+108G>A) n.3101+108G>A n.3081+108G>A c.2573+108G>A (n.2573+108G>A) n.3066+108G>A | gnomAD v4 |
20 | g.3228153_3228160del | CA2651691094 | SLC4A11 | c.2558+101_2558+108del (n.2558+101_2558+108del) c.2489+101_2489+108del (n.2489+101_2489+108del) c.2357+101_2357+108del (n.2357+101_2357+108del) c.2444+101_2444+108del (n.2444+101_2444+108del) c.2606+101_2606+108del (n.2606+101_2606+108del) c.2687+101_2687+108del (n.2687+101_2687+108del) c.*706+101_*706+108del (n.*706+101_*706+108del) c.2927+101_2927+108del (n.2927+101_2927+108del) c.2501+101_2501+108del (n.2501+101_2501+108del) c.2525+101_2525+108del (n.2525+101_2525+108del) n.2656+101_2656+108del c.2921+101_2921+108del (n.2921+101_2921+108del) n.3101+101_3101+108del n.3081+101_3081+108del c.2573+101_2573+108del (n.2573+101_2573+108del) n.3066+101_3066+108del | gnomAD v4 |
20 | g.3228152C>A | CA2651691096 | SLC4A11 | c.2558+107G>T (n.2558+107G>T) c.2489+107G>T (n.2489+107G>T) c.2357+107G>T (n.2357+107G>T) c.2444+107G>T (n.2444+107G>T) c.2606+107G>T (n.2606+107G>T) c.2687+107G>T (n.2687+107G>T) c.*706+107G>T (n.*706+107G>T) c.2927+107G>T (n.2927+107G>T) c.2501+107G>T (n.2501+107G>T) c.2525+107G>T (n.2525+107G>T) n.2656+107G>T c.2921+107G>T (n.2921+107G>T) n.3101+107G>T n.3081+107G>T c.2573+107G>T (n.2573+107G>T) n.3066+107G>T | gnomAD v4 |
20 | g.3228152C= | CA2346474840 | SLC4A11 | c.2558+107G= (n.2558+107G=) c.2489+107G= (n.2489+107G=) c.2357+107G= (n.2357+107G=) c.2444+107G= (n.2444+107G=) c.2606+107G= (n.2606+107G=) c.2687+107G= (n.2687+107G=) c.*706+107G= (n.*706+107G=) c.2927+107G= (n.2927+107G=) c.2501+107G= (n.2501+107G=) c.2525+107G= (n.2525+107G=) n.2656+107G= c.2921+107G= (n.2921+107G=) n.3101+107G= n.3081+107G= c.2573+107G= (n.2573+107G=) n.3066+107G= | |
20 | g.3228152C>T | CA310984573 | SLC4A11 | c.2558+107G>A (n.2558+107G>A) c.2489+107G>A (n.2489+107G>A) c.2357+107G>A (n.2357+107G>A) c.2444+107G>A (n.2444+107G>A) c.2606+107G>A (n.2606+107G>A) c.2687+107G>A (n.2687+107G>A) c.*706+107G>A (n.*706+107G>A) c.2927+107G>A (n.2927+107G>A) c.2501+107G>A (n.2501+107G>A) c.2525+107G>A (n.2525+107G>A) n.2656+107G>A c.2921+107G>A (n.2921+107G>A) n.3101+107G>A n.3081+107G>A c.2573+107G>A (n.2573+107G>A) n.3066+107G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228153_3228154insCAAAAACC | CA2651691095 | SLC4A11 | c.2558+107_2558+108insTTTTTGGG (n.2558+107_2558+108insTTTTTGGG) c.2489+107_2489+108insTTTTTGGG (n.2489+107_2489+108insTTTTTGGG) c.2357+107_2357+108insTTTTTGGG (n.2357+107_2357+108insTTTTTGGG) c.2444+107_2444+108insTTTTTGGG (n.2444+107_2444+108insTTTTTGGG) c.2606+107_2606+108insTTTTTGGG (n.2606+107_2606+108insTTTTTGGG) c.2687+107_2687+108insTTTTTGGG (n.2687+107_2687+108insTTTTTGGG) c.*706+107_*706+108insTTTTTGGG (n.*706+107_*706+108insTTTTTGGG) c.2927+107_2927+108insTTTTTGGG (n.2927+107_2927+108insTTTTTGGG) c.2501+107_2501+108insTTTTTGGG (n.2501+107_2501+108insTTTTTGGG) c.2525+107_2525+108insTTTTTGGG (n.2525+107_2525+108insTTTTTGGG) n.2656+107_2656+108insTTTTTGGG c.2921+107_2921+108insTTTTTGGG (n.2921+107_2921+108insTTTTTGGG) n.3101+107_3101+108insTTTTTGGG n.3081+107_3081+108insTTTTTGGG c.2573+107_2573+108insTTTTTGGG (n.2573+107_2573+108insTTTTTGGG) n.3066+107_3066+108insTTTTTGGG | gnomAD v4 |
20 | g.3228153C>A | CA743608857 | SLC4A11 | c.2558+106G>T (n.2558+106G>T) c.2489+106G>T (n.2489+106G>T) c.2357+106G>T (n.2357+106G>T) c.2444+106G>T (n.2444+106G>T) c.2606+106G>T (n.2606+106G>T) c.2687+106G>T (n.2687+106G>T) c.*706+106G>T (n.*706+106G>T) c.2927+106G>T (n.2927+106G>T) c.2501+106G>T (n.2501+106G>T) c.2525+106G>T (n.2525+106G>T) n.2656+106G>T c.2921+106G>T (n.2921+106G>T) n.3101+106G>T n.3081+106G>T c.2573+106G>T (n.2573+106G>T) n.3066+106G>T | dbSNP gnomAD v4 |
20 | g.3228153C= | CA2346474841 | SLC4A11 | c.2558+106G= (n.2558+106G=) c.2489+106G= (n.2489+106G=) c.2357+106G= (n.2357+106G=) c.2444+106G= (n.2444+106G=) c.2606+106G= (n.2606+106G=) c.2687+106G= (n.2687+106G=) c.*706+106G= (n.*706+106G=) c.2927+106G= (n.2927+106G=) c.2501+106G= (n.2501+106G=) c.2525+106G= (n.2525+106G=) n.2656+106G= c.2921+106G= (n.2921+106G=) n.3101+106G= n.3081+106G= c.2573+106G= (n.2573+106G=) n.3066+106G= | |
20 | g.3228153_3228154insCAAAAC | CA2651691104 | SLC4A11 | c.2558+106_2558+107insTTTTGG (n.2558+106_2558+107insTTTTGG) c.2489+106_2489+107insTTTTGG (n.2489+106_2489+107insTTTTGG) c.2357+106_2357+107insTTTTGG (n.2357+106_2357+107insTTTTGG) c.2444+106_2444+107insTTTTGG (n.2444+106_2444+107insTTTTGG) c.2606+106_2606+107insTTTTGG (n.2606+106_2606+107insTTTTGG) c.2687+106_2687+107insTTTTGG (n.2687+106_2687+107insTTTTGG) c.*706+106_*706+107insTTTTGG (n.*706+106_*706+107insTTTTGG) c.2927+106_2927+107insTTTTGG (n.2927+106_2927+107insTTTTGG) c.2501+106_2501+107insTTTTGG (n.2501+106_2501+107insTTTTGG) c.2525+106_2525+107insTTTTGG (n.2525+106_2525+107insTTTTGG) n.2656+106_2656+107insTTTTGG c.2921+106_2921+107insTTTTGG (n.2921+106_2921+107insTTTTGG) n.3101+106_3101+107insTTTTGG n.3081+106_3081+107insTTTTGG c.2573+106_2573+107insTTTTGG (n.2573+106_2573+107insTTTTGG) n.3066+106_3066+107insTTTTGG | gnomAD v4 |
20 | g.3228153_3228154insCCAAAC | CA2651691102 | SLC4A11 | c.2558+106_2558+107insTTTGGG (n.2558+106_2558+107insTTTGGG) c.2489+106_2489+107insTTTGGG (n.2489+106_2489+107insTTTGGG) c.2357+106_2357+107insTTTGGG (n.2357+106_2357+107insTTTGGG) c.2444+106_2444+107insTTTGGG (n.2444+106_2444+107insTTTGGG) c.2606+106_2606+107insTTTGGG (n.2606+106_2606+107insTTTGGG) c.2687+106_2687+107insTTTGGG (n.2687+106_2687+107insTTTGGG) c.*706+106_*706+107insTTTGGG (n.*706+106_*706+107insTTTGGG) c.2927+106_2927+107insTTTGGG (n.2927+106_2927+107insTTTGGG) c.2501+106_2501+107insTTTGGG (n.2501+106_2501+107insTTTGGG) c.2525+106_2525+107insTTTGGG (n.2525+106_2525+107insTTTGGG) n.2656+106_2656+107insTTTGGG c.2921+106_2921+107insTTTGGG (n.2921+106_2921+107insTTTGGG) n.3101+106_3101+107insTTTGGG n.3081+106_3081+107insTTTGGG c.2573+106_2573+107insTTTGGG (n.2573+106_2573+107insTTTGGG) n.3066+106_3066+107insTTTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAC | CA2651691100 | SLC4A11 | c.2558+106_2558+107insTGGGGG (n.2558+106_2558+107insTGGGGG) c.2489+106_2489+107insTGGGGG (n.2489+106_2489+107insTGGGGG) c.2357+106_2357+107insTGGGGG (n.2357+106_2357+107insTGGGGG) c.2444+106_2444+107insTGGGGG (n.2444+106_2444+107insTGGGGG) c.2606+106_2606+107insTGGGGG (n.2606+106_2606+107insTGGGGG) c.2687+106_2687+107insTGGGGG (n.2687+106_2687+107insTGGGGG) c.*706+106_*706+107insTGGGGG (n.*706+106_*706+107insTGGGGG) c.2927+106_2927+107insTGGGGG (n.2927+106_2927+107insTGGGGG) c.2501+106_2501+107insTGGGGG (n.2501+106_2501+107insTGGGGG) c.2525+106_2525+107insTGGGGG (n.2525+106_2525+107insTGGGGG) n.2656+106_2656+107insTGGGGG c.2921+106_2921+107insTGGGGG (n.2921+106_2921+107insTGGGGG) n.3101+106_3101+107insTGGGGG n.3081+106_3081+107insTGGGGG c.2573+106_2573+107insTGGGGG (n.2573+106_2573+107insTGGGGG) n.3066+106_3066+107insTGGGGG | gnomAD v4 |
20 | g.3228153_3228154insCAAAAAC | CA2651691103 | SLC4A11 | c.2558+106_2558+107insTTTTTGG (n.2558+106_2558+107insTTTTTGG) c.2489+106_2489+107insTTTTTGG (n.2489+106_2489+107insTTTTTGG) c.2357+106_2357+107insTTTTTGG (n.2357+106_2357+107insTTTTTGG) c.2444+106_2444+107insTTTTTGG (n.2444+106_2444+107insTTTTTGG) c.2606+106_2606+107insTTTTTGG (n.2606+106_2606+107insTTTTTGG) c.2687+106_2687+107insTTTTTGG (n.2687+106_2687+107insTTTTTGG) c.*706+106_*706+107insTTTTTGG (n.*706+106_*706+107insTTTTTGG) c.2927+106_2927+107insTTTTTGG (n.2927+106_2927+107insTTTTTGG) c.2501+106_2501+107insTTTTTGG (n.2501+106_2501+107insTTTTTGG) c.2525+106_2525+107insTTTTTGG (n.2525+106_2525+107insTTTTTGG) n.2656+106_2656+107insTTTTTGG c.2921+106_2921+107insTTTTTGG (n.2921+106_2921+107insTTTTTGG) n.3101+106_3101+107insTTTTTGG n.3081+106_3081+107insTTTTTGG c.2573+106_2573+107insTTTTTGG (n.2573+106_2573+107insTTTTTGG) n.3066+106_3066+107insTTTTTGG | gnomAD v4 |
20 | g.3228153_3228154insCATAAAC | CA2651691097 | SLC4A11 | c.2558+106_2558+107insTTTATGG (n.2558+106_2558+107insTTTATGG) c.2489+106_2489+107insTTTATGG (n.2489+106_2489+107insTTTATGG) c.2357+106_2357+107insTTTATGG (n.2357+106_2357+107insTTTATGG) c.2444+106_2444+107insTTTATGG (n.2444+106_2444+107insTTTATGG) c.2606+106_2606+107insTTTATGG (n.2606+106_2606+107insTTTATGG) c.2687+106_2687+107insTTTATGG (n.2687+106_2687+107insTTTATGG) c.*706+106_*706+107insTTTATGG (n.*706+106_*706+107insTTTATGG) c.2927+106_2927+107insTTTATGG (n.2927+106_2927+107insTTTATGG) c.2501+106_2501+107insTTTATGG (n.2501+106_2501+107insTTTATGG) c.2525+106_2525+107insTTTATGG (n.2525+106_2525+107insTTTATGG) n.2656+106_2656+107insTTTATGG c.2921+106_2921+107insTTTATGG (n.2921+106_2921+107insTTTATGG) n.3101+106_3101+107insTTTATGG n.3081+106_3081+107insTTTATGG c.2573+106_2573+107insTTTATGG (n.2573+106_2573+107insTTTATGG) n.3066+106_3066+107insTTTATGG | gnomAD v4 |
20 | g.3228153_3228154insCCAAAAC | CA2651691101 | SLC4A11 | c.2558+106_2558+107insTTTTGGG (n.2558+106_2558+107insTTTTGGG) c.2489+106_2489+107insTTTTGGG (n.2489+106_2489+107insTTTTGGG) c.2357+106_2357+107insTTTTGGG (n.2357+106_2357+107insTTTTGGG) c.2444+106_2444+107insTTTTGGG (n.2444+106_2444+107insTTTTGGG) c.2606+106_2606+107insTTTTGGG (n.2606+106_2606+107insTTTTGGG) c.2687+106_2687+107insTTTTGGG (n.2687+106_2687+107insTTTTGGG) c.*706+106_*706+107insTTTTGGG (n.*706+106_*706+107insTTTTGGG) c.2927+106_2927+107insTTTTGGG (n.2927+106_2927+107insTTTTGGG) c.2501+106_2501+107insTTTTGGG (n.2501+106_2501+107insTTTTGGG) c.2525+106_2525+107insTTTTGGG (n.2525+106_2525+107insTTTTGGG) n.2656+106_2656+107insTTTTGGG c.2921+106_2921+107insTTTTGGG (n.2921+106_2921+107insTTTTGGG) n.3101+106_3101+107insTTTTGGG n.3081+106_3081+107insTTTTGGG c.2573+106_2573+107insTTTTGGG (n.2573+106_2573+107insTTTTGGG) n.3066+106_3066+107insTTTTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAAGAC | CA2651691099 | SLC4A11 | c.2558+106_2558+107insTCTTGGGGG (n.2558+106_2558+107insTCTTGGGGG) c.2489+106_2489+107insTCTTGGGGG (n.2489+106_2489+107insTCTTGGGGG) c.2357+106_2357+107insTCTTGGGGG (n.2357+106_2357+107insTCTTGGGGG) c.2444+106_2444+107insTCTTGGGGG (n.2444+106_2444+107insTCTTGGGGG) c.2606+106_2606+107insTCTTGGGGG (n.2606+106_2606+107insTCTTGGGGG) c.2687+106_2687+107insTCTTGGGGG (n.2687+106_2687+107insTCTTGGGGG) c.*706+106_*706+107insTCTTGGGGG (n.*706+106_*706+107insTCTTGGGGG) c.2927+106_2927+107insTCTTGGGGG (n.2927+106_2927+107insTCTTGGGGG) c.2501+106_2501+107insTCTTGGGGG (n.2501+106_2501+107insTCTTGGGGG) c.2525+106_2525+107insTCTTGGGGG (n.2525+106_2525+107insTCTTGGGGG) n.2656+106_2656+107insTCTTGGGGG c.2921+106_2921+107insTCTTGGGGG (n.2921+106_2921+107insTCTTGGGGG) n.3101+106_3101+107insTCTTGGGGG n.3081+106_3081+107insTCTTGGGGG c.2573+106_2573+107insTCTTGGGGG (n.2573+106_2573+107insTCTTGGGGG) n.3066+106_3066+107insTCTTGGGGG | gnomAD v4 |
20 | g.3228154_3228162del | CA2651691098 | SLC4A11 | c.2558+98_2558+106del (n.2558+98_2558+106del) c.2489+98_2489+106del (n.2489+98_2489+106del) c.2357+98_2357+106del (n.2357+98_2357+106del) c.2444+98_2444+106del (n.2444+98_2444+106del) c.2606+98_2606+106del (n.2606+98_2606+106del) c.2687+98_2687+106del (n.2687+98_2687+106del) c.*706+98_*706+106del (n.*706+98_*706+106del) c.2927+98_2927+106del (n.2927+98_2927+106del) c.2501+98_2501+106del (n.2501+98_2501+106del) c.2525+98_2525+106del (n.2525+98_2525+106del) n.2656+98_2656+106del c.2921+98_2921+106del (n.2921+98_2921+106del) n.3101+98_3101+106del n.3081+98_3081+106del c.2573+98_2573+106del (n.2573+98_2573+106del) n.3066+98_3066+106del | gnomAD v4 |
20 | g.3228153_3228154insCA | CA2651691126 | SLC4A11 | c.2558+105_2558+106insTG (n.2558+105_2558+106insTG) c.2489+105_2489+106insTG (n.2489+105_2489+106insTG) c.2357+105_2357+106insTG (n.2357+105_2357+106insTG) c.2444+105_2444+106insTG (n.2444+105_2444+106insTG) c.2606+105_2606+106insTG (n.2606+105_2606+106insTG) c.2687+105_2687+106insTG (n.2687+105_2687+106insTG) c.*706+105_*706+106insTG (n.*706+105_*706+106insTG) c.2927+105_2927+106insTG (n.2927+105_2927+106insTG) c.2501+105_2501+106insTG (n.2501+105_2501+106insTG) c.2525+105_2525+106insTG (n.2525+105_2525+106insTG) n.2656+105_2656+106insTG c.2921+105_2921+106insTG (n.2921+105_2921+106insTG) n.3101+105_3101+106insTG n.3081+105_3081+106insTG c.2573+105_2573+106insTG (n.2573+105_2573+106insTG) n.3066+105_3066+106insTG | gnomAD v4 |
20 | g.3228153_3228154insCAA | CA2651691127 | SLC4A11 | c.2558+105_2558+106insTTG (n.2558+105_2558+106insTTG) c.2489+105_2489+106insTTG (n.2489+105_2489+106insTTG) c.2357+105_2357+106insTTG (n.2357+105_2357+106insTTG) c.2444+105_2444+106insTTG (n.2444+105_2444+106insTTG) c.2606+105_2606+106insTTG (n.2606+105_2606+106insTTG) c.2687+105_2687+106insTTG (n.2687+105_2687+106insTTG) c.*706+105_*706+106insTTG (n.*706+105_*706+106insTTG) c.2927+105_2927+106insTTG (n.2927+105_2927+106insTTG) c.2501+105_2501+106insTTG (n.2501+105_2501+106insTTG) c.2525+105_2525+106insTTG (n.2525+105_2525+106insTTG) n.2656+105_2656+106insTTG c.2921+105_2921+106insTTG (n.2921+105_2921+106insTTG) n.3101+105_3101+106insTTG n.3081+105_3081+106insTTG c.2573+105_2573+106insTTG (n.2573+105_2573+106insTTG) n.3066+105_3066+106insTTG | gnomAD v4 |
20 | g.3228153_3228154insCAG | CA2651691119 | SLC4A11 | c.2558+105_2558+106insCTG (n.2558+105_2558+106insCTG) c.2489+105_2489+106insCTG (n.2489+105_2489+106insCTG) c.2357+105_2357+106insCTG (n.2357+105_2357+106insCTG) c.2444+105_2444+106insCTG (n.2444+105_2444+106insCTG) c.2606+105_2606+106insCTG (n.2606+105_2606+106insCTG) c.2687+105_2687+106insCTG (n.2687+105_2687+106insCTG) c.*706+105_*706+106insCTG (n.*706+105_*706+106insCTG) c.2927+105_2927+106insCTG (n.2927+105_2927+106insCTG) c.2501+105_2501+106insCTG (n.2501+105_2501+106insCTG) c.2525+105_2525+106insCTG (n.2525+105_2525+106insCTG) n.2656+105_2656+106insCTG c.2921+105_2921+106insCTG (n.2921+105_2921+106insCTG) n.3101+105_3101+106insCTG n.3081+105_3081+106insCTG c.2573+105_2573+106insCTG (n.2573+105_2573+106insCTG) n.3066+105_3066+106insCTG | gnomAD v4 |
20 | g.3228153_3228154insCAT | CA2651691129 | SLC4A11 | c.2558+105_2558+106insATG (n.2558+105_2558+106insATG) c.2489+105_2489+106insATG (n.2489+105_2489+106insATG) c.2357+105_2357+106insATG (n.2357+105_2357+106insATG) c.2444+105_2444+106insATG (n.2444+105_2444+106insATG) c.2606+105_2606+106insATG (n.2606+105_2606+106insATG) c.2687+105_2687+106insATG (n.2687+105_2687+106insATG) c.*706+105_*706+106insATG (n.*706+105_*706+106insATG) c.2927+105_2927+106insATG (n.2927+105_2927+106insATG) c.2501+105_2501+106insATG (n.2501+105_2501+106insATG) c.2525+105_2525+106insATG (n.2525+105_2525+106insATG) n.2656+105_2656+106insATG c.2921+105_2921+106insATG (n.2921+105_2921+106insATG) n.3101+105_3101+106insATG n.3081+105_3081+106insATG c.2573+105_2573+106insATG (n.2573+105_2573+106insATG) n.3066+105_3066+106insATG | gnomAD v4 |
20 | g.3228153_3228154insCCA | CA2651691131 | SLC4A11 | c.2558+105_2558+106insTGG (n.2558+105_2558+106insTGG) c.2489+105_2489+106insTGG (n.2489+105_2489+106insTGG) c.2357+105_2357+106insTGG (n.2357+105_2357+106insTGG) c.2444+105_2444+106insTGG (n.2444+105_2444+106insTGG) c.2606+105_2606+106insTGG (n.2606+105_2606+106insTGG) c.2687+105_2687+106insTGG (n.2687+105_2687+106insTGG) c.*706+105_*706+106insTGG (n.*706+105_*706+106insTGG) c.2927+105_2927+106insTGG (n.2927+105_2927+106insTGG) c.2501+105_2501+106insTGG (n.2501+105_2501+106insTGG) c.2525+105_2525+106insTGG (n.2525+105_2525+106insTGG) n.2656+105_2656+106insTGG c.2921+105_2921+106insTGG (n.2921+105_2921+106insTGG) n.3101+105_3101+106insTGG n.3081+105_3081+106insTGG c.2573+105_2573+106insTGG (n.2573+105_2573+106insTGG) n.3066+105_3066+106insTGG | gnomAD v4 |
20 | g.3228153_3228154insCCT | CA2651691114 | SLC4A11 | c.2558+105_2558+106insAGG (n.2558+105_2558+106insAGG) c.2489+105_2489+106insAGG (n.2489+105_2489+106insAGG) c.2357+105_2357+106insAGG (n.2357+105_2357+106insAGG) c.2444+105_2444+106insAGG (n.2444+105_2444+106insAGG) c.2606+105_2606+106insAGG (n.2606+105_2606+106insAGG) c.2687+105_2687+106insAGG (n.2687+105_2687+106insAGG) c.*706+105_*706+106insAGG (n.*706+105_*706+106insAGG) c.2927+105_2927+106insAGG (n.2927+105_2927+106insAGG) c.2501+105_2501+106insAGG (n.2501+105_2501+106insAGG) c.2525+105_2525+106insAGG (n.2525+105_2525+106insAGG) n.2656+105_2656+106insAGG c.2921+105_2921+106insAGG (n.2921+105_2921+106insAGG) n.3101+105_3101+106insAGG n.3081+105_3081+106insAGG c.2573+105_2573+106insAGG (n.2573+105_2573+106insAGG) n.3066+105_3066+106insAGG | gnomAD v4 |
20 | g.3228153_3228154insCAAA | CA2651691128 | SLC4A11 | c.2558+105_2558+106insTTTG (n.2558+105_2558+106insTTTG) c.2489+105_2489+106insTTTG (n.2489+105_2489+106insTTTG) c.2357+105_2357+106insTTTG (n.2357+105_2357+106insTTTG) c.2444+105_2444+106insTTTG (n.2444+105_2444+106insTTTG) c.2606+105_2606+106insTTTG (n.2606+105_2606+106insTTTG) c.2687+105_2687+106insTTTG (n.2687+105_2687+106insTTTG) c.*706+105_*706+106insTTTG (n.*706+105_*706+106insTTTG) c.2927+105_2927+106insTTTG (n.2927+105_2927+106insTTTG) c.2501+105_2501+106insTTTG (n.2501+105_2501+106insTTTG) c.2525+105_2525+106insTTTG (n.2525+105_2525+106insTTTG) n.2656+105_2656+106insTTTG c.2921+105_2921+106insTTTG (n.2921+105_2921+106insTTTG) n.3101+105_3101+106insTTTG n.3081+105_3081+106insTTTG c.2573+105_2573+106insTTTG (n.2573+105_2573+106insTTTG) n.3066+105_3066+106insTTTG | gnomAD v4 |
20 | g.3228153_3228154insCATA | CA2651691130 | SLC4A11 | c.2558+105_2558+106insTATG (n.2558+105_2558+106insTATG) c.2489+105_2489+106insTATG (n.2489+105_2489+106insTATG) c.2357+105_2357+106insTATG (n.2357+105_2357+106insTATG) c.2444+105_2444+106insTATG (n.2444+105_2444+106insTATG) c.2606+105_2606+106insTATG (n.2606+105_2606+106insTATG) c.2687+105_2687+106insTATG (n.2687+105_2687+106insTATG) c.*706+105_*706+106insTATG (n.*706+105_*706+106insTATG) c.2927+105_2927+106insTATG (n.2927+105_2927+106insTATG) c.2501+105_2501+106insTATG (n.2501+105_2501+106insTATG) c.2525+105_2525+106insTATG (n.2525+105_2525+106insTATG) n.2656+105_2656+106insTATG c.2921+105_2921+106insTATG (n.2921+105_2921+106insTATG) n.3101+105_3101+106insTATG n.3081+105_3081+106insTATG c.2573+105_2573+106insTATG (n.2573+105_2573+106insTATG) n.3066+105_3066+106insTATG | gnomAD v4 |
20 | g.3228153_3228154insCCAA | CA2651691132 | SLC4A11 | c.2558+105_2558+106insTTGG (n.2558+105_2558+106insTTGG) c.2489+105_2489+106insTTGG (n.2489+105_2489+106insTTGG) c.2357+105_2357+106insTTGG (n.2357+105_2357+106insTTGG) c.2444+105_2444+106insTTGG (n.2444+105_2444+106insTTGG) c.2606+105_2606+106insTTGG (n.2606+105_2606+106insTTGG) c.2687+105_2687+106insTTGG (n.2687+105_2687+106insTTGG) c.*706+105_*706+106insTTGG (n.*706+105_*706+106insTTGG) c.2927+105_2927+106insTTGG (n.2927+105_2927+106insTTGG) c.2501+105_2501+106insTTGG (n.2501+105_2501+106insTTGG) c.2525+105_2525+106insTTGG (n.2525+105_2525+106insTTGG) n.2656+105_2656+106insTTGG c.2921+105_2921+106insTTGG (n.2921+105_2921+106insTTGG) n.3101+105_3101+106insTTGG n.3081+105_3081+106insTTGG c.2573+105_2573+106insTTGG (n.2573+105_2573+106insTTGG) n.3066+105_3066+106insTTGG | gnomAD v4 |
20 | g.3228153_3228154insCCCA | CA2651691120 | SLC4A11 | c.2558+105_2558+106insTGGG (n.2558+105_2558+106insTGGG) c.2489+105_2489+106insTGGG (n.2489+105_2489+106insTGGG) c.2357+105_2357+106insTGGG (n.2357+105_2357+106insTGGG) c.2444+105_2444+106insTGGG (n.2444+105_2444+106insTGGG) c.2606+105_2606+106insTGGG (n.2606+105_2606+106insTGGG) c.2687+105_2687+106insTGGG (n.2687+105_2687+106insTGGG) c.*706+105_*706+106insTGGG (n.*706+105_*706+106insTGGG) c.2927+105_2927+106insTGGG (n.2927+105_2927+106insTGGG) c.2501+105_2501+106insTGGG (n.2501+105_2501+106insTGGG) c.2525+105_2525+106insTGGG (n.2525+105_2525+106insTGGG) n.2656+105_2656+106insTGGG c.2921+105_2921+106insTGGG (n.2921+105_2921+106insTGGG) n.3101+105_3101+106insTGGG n.3081+105_3081+106insTGGG c.2573+105_2573+106insTGGG (n.2573+105_2573+106insTGGG) n.3066+105_3066+106insTGGG | gnomAD v4 |
20 | g.3228153_3228154insCAAAA | CA2651691135 | SLC4A11 | c.2558+105_2558+106insTTTTG (n.2558+105_2558+106insTTTTG) c.2489+105_2489+106insTTTTG (n.2489+105_2489+106insTTTTG) c.2357+105_2357+106insTTTTG (n.2357+105_2357+106insTTTTG) c.2444+105_2444+106insTTTTG (n.2444+105_2444+106insTTTTG) c.2606+105_2606+106insTTTTG (n.2606+105_2606+106insTTTTG) c.2687+105_2687+106insTTTTG (n.2687+105_2687+106insTTTTG) c.*706+105_*706+106insTTTTG (n.*706+105_*706+106insTTTTG) c.2927+105_2927+106insTTTTG (n.2927+105_2927+106insTTTTG) c.2501+105_2501+106insTTTTG (n.2501+105_2501+106insTTTTG) c.2525+105_2525+106insTTTTG (n.2525+105_2525+106insTTTTG) n.2656+105_2656+106insTTTTG c.2921+105_2921+106insTTTTG (n.2921+105_2921+106insTTTTG) n.3101+105_3101+106insTTTTG n.3081+105_3081+106insTTTTG c.2573+105_2573+106insTTTTG (n.2573+105_2573+106insTTTTG) n.3066+105_3066+106insTTTTG | gnomAD v4 |
20 | g.3228153_3228154insCCAAA | CA2651691133 | SLC4A11 | c.2558+105_2558+106insTTTGG (n.2558+105_2558+106insTTTGG) c.2489+105_2489+106insTTTGG (n.2489+105_2489+106insTTTGG) c.2357+105_2357+106insTTTGG (n.2357+105_2357+106insTTTGG) c.2444+105_2444+106insTTTGG (n.2444+105_2444+106insTTTGG) c.2606+105_2606+106insTTTGG (n.2606+105_2606+106insTTTGG) c.2687+105_2687+106insTTTGG (n.2687+105_2687+106insTTTGG) c.*706+105_*706+106insTTTGG (n.*706+105_*706+106insTTTGG) c.2927+105_2927+106insTTTGG (n.2927+105_2927+106insTTTGG) c.2501+105_2501+106insTTTGG (n.2501+105_2501+106insTTTGG) c.2525+105_2525+106insTTTGG (n.2525+105_2525+106insTTTGG) n.2656+105_2656+106insTTTGG c.2921+105_2921+106insTTTGG (n.2921+105_2921+106insTTTGG) n.3101+105_3101+106insTTTGG n.3081+105_3081+106insTTTGG c.2573+105_2573+106insTTTGG (n.2573+105_2573+106insTTTGG) n.3066+105_3066+106insTTTGG | gnomAD v4 |
20 | g.3228153_3228154insCCCAA | CA2651691121 | SLC4A11 | c.2558+105_2558+106insTTGGG (n.2558+105_2558+106insTTGGG) c.2489+105_2489+106insTTGGG (n.2489+105_2489+106insTTGGG) c.2357+105_2357+106insTTGGG (n.2357+105_2357+106insTTGGG) c.2444+105_2444+106insTTGGG (n.2444+105_2444+106insTTGGG) c.2606+105_2606+106insTTGGG (n.2606+105_2606+106insTTGGG) c.2687+105_2687+106insTTGGG (n.2687+105_2687+106insTTGGG) c.*706+105_*706+106insTTGGG (n.*706+105_*706+106insTTGGG) c.2927+105_2927+106insTTGGG (n.2927+105_2927+106insTTGGG) c.2501+105_2501+106insTTGGG (n.2501+105_2501+106insTTGGG) c.2525+105_2525+106insTTGGG (n.2525+105_2525+106insTTGGG) n.2656+105_2656+106insTTGGG c.2921+105_2921+106insTTGGG (n.2921+105_2921+106insTTGGG) n.3101+105_3101+106insTTGGG n.3081+105_3081+106insTTGGG c.2573+105_2573+106insTTGGG (n.2573+105_2573+106insTTGGG) n.3066+105_3066+106insTTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCA | CA2651691107 | SLC4A11 | c.2558+105_2558+106insTGGGG (n.2558+105_2558+106insTGGGG) c.2489+105_2489+106insTGGGG (n.2489+105_2489+106insTGGGG) c.2357+105_2357+106insTGGGG (n.2357+105_2357+106insTGGGG) c.2444+105_2444+106insTGGGG (n.2444+105_2444+106insTGGGG) c.2606+105_2606+106insTGGGG (n.2606+105_2606+106insTGGGG) c.2687+105_2687+106insTGGGG (n.2687+105_2687+106insTGGGG) c.*706+105_*706+106insTGGGG (n.*706+105_*706+106insTGGGG) c.2927+105_2927+106insTGGGG (n.2927+105_2927+106insTGGGG) c.2501+105_2501+106insTGGGG (n.2501+105_2501+106insTGGGG) c.2525+105_2525+106insTGGGG (n.2525+105_2525+106insTGGGG) n.2656+105_2656+106insTGGGG c.2921+105_2921+106insTGGGG (n.2921+105_2921+106insTGGGG) n.3101+105_3101+106insTGGGG n.3081+105_3081+106insTGGGG c.2573+105_2573+106insTGGGG (n.2573+105_2573+106insTGGGG) n.3066+105_3066+106insTGGGG | gnomAD v4 |
20 | g.3228153_3228154insCCAAAA | CA2651691134 | SLC4A11 | c.2558+105_2558+106insTTTTGG (n.2558+105_2558+106insTTTTGG) c.2489+105_2489+106insTTTTGG (n.2489+105_2489+106insTTTTGG) c.2357+105_2357+106insTTTTGG (n.2357+105_2357+106insTTTTGG) c.2444+105_2444+106insTTTTGG (n.2444+105_2444+106insTTTTGG) c.2606+105_2606+106insTTTTGG (n.2606+105_2606+106insTTTTGG) c.2687+105_2687+106insTTTTGG (n.2687+105_2687+106insTTTTGG) c.*706+105_*706+106insTTTTGG (n.*706+105_*706+106insTTTTGG) c.2927+105_2927+106insTTTTGG (n.2927+105_2927+106insTTTTGG) c.2501+105_2501+106insTTTTGG (n.2501+105_2501+106insTTTTGG) c.2525+105_2525+106insTTTTGG (n.2525+105_2525+106insTTTTGG) n.2656+105_2656+106insTTTTGG c.2921+105_2921+106insTTTTGG (n.2921+105_2921+106insTTTTGG) n.3101+105_3101+106insTTTTGG n.3081+105_3081+106insTTTTGG c.2573+105_2573+106insTTTTGG (n.2573+105_2573+106insTTTTGG) n.3066+105_3066+106insTTTTGG | gnomAD v4 |
20 | g.3228153_3228154insCCCAAA | CA2651691111 | SLC4A11 | c.2558+105_2558+106insTTTGGG (n.2558+105_2558+106insTTTGGG) c.2489+105_2489+106insTTTGGG (n.2489+105_2489+106insTTTGGG) c.2357+105_2357+106insTTTGGG (n.2357+105_2357+106insTTTGGG) c.2444+105_2444+106insTTTGGG (n.2444+105_2444+106insTTTGGG) c.2606+105_2606+106insTTTGGG (n.2606+105_2606+106insTTTGGG) c.2687+105_2687+106insTTTGGG (n.2687+105_2687+106insTTTGGG) c.*706+105_*706+106insTTTGGG (n.*706+105_*706+106insTTTGGG) c.2927+105_2927+106insTTTGGG (n.2927+105_2927+106insTTTGGG) c.2501+105_2501+106insTTTGGG (n.2501+105_2501+106insTTTGGG) c.2525+105_2525+106insTTTGGG (n.2525+105_2525+106insTTTGGG) n.2656+105_2656+106insTTTGGG c.2921+105_2921+106insTTTGGG (n.2921+105_2921+106insTTTGGG) n.3101+105_3101+106insTTTGGG n.3081+105_3081+106insTTTGGG c.2573+105_2573+106insTTTGGG (n.2573+105_2573+106insTTTGGG) n.3066+105_3066+106insTTTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAA | CA2651691108 | SLC4A11 | c.2558+105_2558+106insTTGGGG (n.2558+105_2558+106insTTGGGG) c.2489+105_2489+106insTTGGGG (n.2489+105_2489+106insTTGGGG) c.2357+105_2357+106insTTGGGG (n.2357+105_2357+106insTTGGGG) c.2444+105_2444+106insTTGGGG (n.2444+105_2444+106insTTGGGG) c.2606+105_2606+106insTTGGGG (n.2606+105_2606+106insTTGGGG) c.2687+105_2687+106insTTGGGG (n.2687+105_2687+106insTTGGGG) c.*706+105_*706+106insTTGGGG (n.*706+105_*706+106insTTGGGG) c.2927+105_2927+106insTTGGGG (n.2927+105_2927+106insTTGGGG) c.2501+105_2501+106insTTGGGG (n.2501+105_2501+106insTTGGGG) c.2525+105_2525+106insTTGGGG (n.2525+105_2525+106insTTGGGG) n.2656+105_2656+106insTTGGGG c.2921+105_2921+106insTTGGGG (n.2921+105_2921+106insTTGGGG) n.3101+105_3101+106insTTGGGG n.3081+105_3081+106insTTGGGG c.2573+105_2573+106insTTGGGG (n.2573+105_2573+106insTTGGGG) n.3066+105_3066+106insTTGGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCCA | CA2651691113 | SLC4A11 | c.2558+105_2558+106insTGGGGG (n.2558+105_2558+106insTGGGGG) c.2489+105_2489+106insTGGGGG (n.2489+105_2489+106insTGGGGG) c.2357+105_2357+106insTGGGGG (n.2357+105_2357+106insTGGGGG) c.2444+105_2444+106insTGGGGG (n.2444+105_2444+106insTGGGGG) c.2606+105_2606+106insTGGGGG (n.2606+105_2606+106insTGGGGG) c.2687+105_2687+106insTGGGGG (n.2687+105_2687+106insTGGGGG) c.*706+105_*706+106insTGGGGG (n.*706+105_*706+106insTGGGGG) c.2927+105_2927+106insTGGGGG (n.2927+105_2927+106insTGGGGG) c.2501+105_2501+106insTGGGGG (n.2501+105_2501+106insTGGGGG) c.2525+105_2525+106insTGGGGG (n.2525+105_2525+106insTGGGGG) n.2656+105_2656+106insTGGGGG c.2921+105_2921+106insTGGGGG (n.2921+105_2921+106insTGGGGG) n.3101+105_3101+106insTGGGGG n.3081+105_3081+106insTGGGGG c.2573+105_2573+106insTGGGGG (n.2573+105_2573+106insTGGGGG) n.3066+105_3066+106insTGGGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCAAAA | CA2651691105 | SLC4A11 | c.2558+105_2558+106insTTTTGGG (n.2558+105_2558+106insTTTTGGG) c.2489+105_2489+106insTTTTGGG (n.2489+105_2489+106insTTTTGGG) c.2357+105_2357+106insTTTTGGG (n.2357+105_2357+106insTTTTGGG) c.2444+105_2444+106insTTTTGGG (n.2444+105_2444+106insTTTTGGG) c.2606+105_2606+106insTTTTGGG (n.2606+105_2606+106insTTTTGGG) c.2687+105_2687+106insTTTTGGG (n.2687+105_2687+106insTTTTGGG) c.*706+105_*706+106insTTTTGGG (n.*706+105_*706+106insTTTTGGG) c.2927+105_2927+106insTTTTGGG (n.2927+105_2927+106insTTTTGGG) c.2501+105_2501+106insTTTTGGG (n.2501+105_2501+106insTTTTGGG) c.2525+105_2525+106insTTTTGGG (n.2525+105_2525+106insTTTTGGG) n.2656+105_2656+106insTTTTGGG c.2921+105_2921+106insTTTTGGG (n.2921+105_2921+106insTTTTGGG) n.3101+105_3101+106insTTTTGGG n.3081+105_3081+106insTTTTGGG c.2573+105_2573+106insTTTTGGG (n.2573+105_2573+106insTTTTGGG) n.3066+105_3066+106insTTTTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCACAA | CA2651691106 | SLC4A11 | c.2558+105_2558+106insTTGTGGG (n.2558+105_2558+106insTTGTGGG) c.2489+105_2489+106insTTGTGGG (n.2489+105_2489+106insTTGTGGG) c.2357+105_2357+106insTTGTGGG (n.2357+105_2357+106insTTGTGGG) c.2444+105_2444+106insTTGTGGG (n.2444+105_2444+106insTTGTGGG) c.2606+105_2606+106insTTGTGGG (n.2606+105_2606+106insTTGTGGG) c.2687+105_2687+106insTTGTGGG (n.2687+105_2687+106insTTGTGGG) c.*706+105_*706+106insTTGTGGG (n.*706+105_*706+106insTTGTGGG) c.2927+105_2927+106insTTGTGGG (n.2927+105_2927+106insTTGTGGG) c.2501+105_2501+106insTTGTGGG (n.2501+105_2501+106insTTGTGGG) c.2525+105_2525+106insTTGTGGG (n.2525+105_2525+106insTTGTGGG) n.2656+105_2656+106insTTGTGGG c.2921+105_2921+106insTTGTGGG (n.2921+105_2921+106insTTGTGGG) n.3101+105_3101+106insTTGTGGG n.3081+105_3081+106insTTGTGGG c.2573+105_2573+106insTTGTGGG (n.2573+105_2573+106insTTGTGGG) n.3066+105_3066+106insTTGTGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAAA | CA2651691109 | SLC4A11 | c.2558+105_2558+106insTTTGGGG (n.2558+105_2558+106insTTTGGGG) c.2489+105_2489+106insTTTGGGG (n.2489+105_2489+106insTTTGGGG) c.2357+105_2357+106insTTTGGGG (n.2357+105_2357+106insTTTGGGG) c.2444+105_2444+106insTTTGGGG (n.2444+105_2444+106insTTTGGGG) c.2606+105_2606+106insTTTGGGG (n.2606+105_2606+106insTTTGGGG) c.2687+105_2687+106insTTTGGGG (n.2687+105_2687+106insTTTGGGG) c.*706+105_*706+106insTTTGGGG (n.*706+105_*706+106insTTTGGGG) c.2927+105_2927+106insTTTGGGG (n.2927+105_2927+106insTTTGGGG) c.2501+105_2501+106insTTTGGGG (n.2501+105_2501+106insTTTGGGG) c.2525+105_2525+106insTTTGGGG (n.2525+105_2525+106insTTTGGGG) n.2656+105_2656+106insTTTGGGG c.2921+105_2921+106insTTTGGGG (n.2921+105_2921+106insTTTGGGG) n.3101+105_3101+106insTTTGGGG n.3081+105_3081+106insTTTGGGG c.2573+105_2573+106insTTTGGGG (n.2573+105_2573+106insTTTGGGG) n.3066+105_3066+106insTTTGGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAAG | CA2651691112 | SLC4A11 | c.2558+105_2558+106insCTTGGGG (n.2558+105_2558+106insCTTGGGG) c.2489+105_2489+106insCTTGGGG (n.2489+105_2489+106insCTTGGGG) c.2357+105_2357+106insCTTGGGG (n.2357+105_2357+106insCTTGGGG) c.2444+105_2444+106insCTTGGGG (n.2444+105_2444+106insCTTGGGG) c.2606+105_2606+106insCTTGGGG (n.2606+105_2606+106insCTTGGGG) c.2687+105_2687+106insCTTGGGG (n.2687+105_2687+106insCTTGGGG) c.*706+105_*706+106insCTTGGGG (n.*706+105_*706+106insCTTGGGG) c.2927+105_2927+106insCTTGGGG (n.2927+105_2927+106insCTTGGGG) c.2501+105_2501+106insCTTGGGG (n.2501+105_2501+106insCTTGGGG) c.2525+105_2525+106insCTTGGGG (n.2525+105_2525+106insCTTGGGG) n.2656+105_2656+106insCTTGGGG c.2921+105_2921+106insCTTGGGG (n.2921+105_2921+106insCTTGGGG) n.3101+105_3101+106insCTTGGGG n.3081+105_3081+106insCTTGGGG c.2573+105_2573+106insCTTGGGG (n.2573+105_2573+106insCTTGGGG) n.3066+105_3066+106insCTTGGGG | gnomAD v4 |
20 | g.3228153_3228154insCCCCAAAA | CA2651691110 | SLC4A11 | c.2558+105_2558+106insTTTTGGGG (n.2558+105_2558+106insTTTTGGGG) c.2489+105_2489+106insTTTTGGGG (n.2489+105_2489+106insTTTTGGGG) c.2357+105_2357+106insTTTTGGGG (n.2357+105_2357+106insTTTTGGGG) c.2444+105_2444+106insTTTTGGGG (n.2444+105_2444+106insTTTTGGGG) c.2606+105_2606+106insTTTTGGGG (n.2606+105_2606+106insTTTTGGGG) c.2687+105_2687+106insTTTTGGGG (n.2687+105_2687+106insTTTTGGGG) c.*706+105_*706+106insTTTTGGGG (n.*706+105_*706+106insTTTTGGGG) c.2927+105_2927+106insTTTTGGGG (n.2927+105_2927+106insTTTTGGGG) c.2501+105_2501+106insTTTTGGGG (n.2501+105_2501+106insTTTTGGGG) c.2525+105_2525+106insTTTTGGGG (n.2525+105_2525+106insTTTTGGGG) n.2656+105_2656+106insTTTTGGGG c.2921+105_2921+106insTTTTGGGG (n.2921+105_2921+106insTTTTGGGG) n.3101+105_3101+106insTTTTGGGG n.3081+105_3081+106insTTTTGGGG c.2573+105_2573+106insTTTTGGGG (n.2573+105_2573+106insTTTTGGGG) n.3066+105_3066+106insTTTTGGGG | gnomAD v4 |
20 | g.3228154A= | CA2346474842 | SLC4A11 | c.2558+105T= (n.2558+105T=) c.2489+105T= (n.2489+105T=) c.2357+105T= (n.2357+105T=) c.2444+105T= (n.2444+105T=) c.2606+105T= (n.2606+105T=) c.2687+105T= (n.2687+105T=) c.*706+105T= (n.*706+105T=) c.2927+105T= (n.2927+105T=) c.2501+105T= (n.2501+105T=) c.2525+105T= (n.2525+105T=) n.2656+105T= c.2921+105T= (n.2921+105T=) n.3101+105T= n.3081+105T= c.2573+105T= (n.2573+105T=) n.3066+105T= | |
20 | g.3228154A>C | CA634173552 | SLC4A11 | c.2558+105T>G (n.2558+105T>G) c.2489+105T>G (n.2489+105T>G) c.2357+105T>G (n.2357+105T>G) c.2444+105T>G (n.2444+105T>G) c.2606+105T>G (n.2606+105T>G) c.2687+105T>G (n.2687+105T>G) c.*706+105T>G (n.*706+105T>G) c.2927+105T>G (n.2927+105T>G) c.2501+105T>G (n.2501+105T>G) c.2525+105T>G (n.2525+105T>G) n.2656+105T>G c.2921+105T>G (n.2921+105T>G) n.3101+105T>G n.3081+105T>G c.2573+105T>G (n.2573+105T>G) n.3066+105T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3228154A>T | CA2651691118 | SLC4A11 | c.2558+105T>A (n.2558+105T>A) c.2489+105T>A (n.2489+105T>A) c.2357+105T>A (n.2357+105T>A) c.2444+105T>A (n.2444+105T>A) c.2606+105T>A (n.2606+105T>A) c.2687+105T>A (n.2687+105T>A) c.*706+105T>A (n.*706+105T>A) c.2927+105T>A (n.2927+105T>A) c.2501+105T>A (n.2501+105T>A) c.2525+105T>A (n.2525+105T>A) n.2656+105T>A c.2921+105T>A (n.2921+105T>A) n.3101+105T>A n.3081+105T>A c.2573+105T>A (n.2573+105T>A) n.3066+105T>A | gnomAD v4 |
20 | g.3228154_3228155insAA | CA2651691122 | SLC4A11 | c.2558+105_2558+106insTT (n.2558+105_2558+106insTT) c.2489+105_2489+106insTT (n.2489+105_2489+106insTT) c.2357+105_2357+106insTT (n.2357+105_2357+106insTT) c.2444+105_2444+106insTT (n.2444+105_2444+106insTT) c.2606+105_2606+106insTT (n.2606+105_2606+106insTT) c.2687+105_2687+106insTT (n.2687+105_2687+106insTT) c.*706+105_*706+106insTT (n.*706+105_*706+106insTT) c.2927+105_2927+106insTT (n.2927+105_2927+106insTT) c.2501+105_2501+106insTT (n.2501+105_2501+106insTT) c.2525+105_2525+106insTT (n.2525+105_2525+106insTT) n.2656+105_2656+106insTT c.2921+105_2921+106insTT (n.2921+105_2921+106insTT) n.3101+105_3101+106insTT n.3081+105_3081+106insTT c.2573+105_2573+106insTT (n.2573+105_2573+106insTT) n.3066+105_3066+106insTT | gnomAD v4 |
20 | g.3228154_3228155insAAA | CA2651691123 | SLC4A11 | c.2558+105_2558+106insTTT (n.2558+105_2558+106insTTT) c.2489+105_2489+106insTTT (n.2489+105_2489+106insTTT) c.2357+105_2357+106insTTT (n.2357+105_2357+106insTTT) c.2444+105_2444+106insTTT (n.2444+105_2444+106insTTT) c.2606+105_2606+106insTTT (n.2606+105_2606+106insTTT) c.2687+105_2687+106insTTT (n.2687+105_2687+106insTTT) c.*706+105_*706+106insTTT (n.*706+105_*706+106insTTT) c.2927+105_2927+106insTTT (n.2927+105_2927+106insTTT) c.2501+105_2501+106insTTT (n.2501+105_2501+106insTTT) c.2525+105_2525+106insTTT (n.2525+105_2525+106insTTT) n.2656+105_2656+106insTTT c.2921+105_2921+106insTTT (n.2921+105_2921+106insTTT) n.3101+105_3101+106insTTT n.3081+105_3081+106insTTT c.2573+105_2573+106insTTT (n.2573+105_2573+106insTTT) n.3066+105_3066+106insTTT | gnomAD v4 |
20 | g.3228154_3228155insAAAA | CA2651691124 | SLC4A11 | c.2558+105_2558+106insTTTT (n.2558+105_2558+106insTTTT) c.2489+105_2489+106insTTTT (n.2489+105_2489+106insTTTT) c.2357+105_2357+106insTTTT (n.2357+105_2357+106insTTTT) c.2444+105_2444+106insTTTT (n.2444+105_2444+106insTTTT) c.2606+105_2606+106insTTTT (n.2606+105_2606+106insTTTT) c.2687+105_2687+106insTTTT (n.2687+105_2687+106insTTTT) c.*706+105_*706+106insTTTT (n.*706+105_*706+106insTTTT) c.2927+105_2927+106insTTTT (n.2927+105_2927+106insTTTT) c.2501+105_2501+106insTTTT (n.2501+105_2501+106insTTTT) c.2525+105_2525+106insTTTT (n.2525+105_2525+106insTTTT) n.2656+105_2656+106insTTTT c.2921+105_2921+106insTTTT (n.2921+105_2921+106insTTTT) n.3101+105_3101+106insTTTT n.3081+105_3081+106insTTTT c.2573+105_2573+106insTTTT (n.2573+105_2573+106insTTTT) n.3066+105_3066+106insTTTT | gnomAD v4 |
20 | g.3228154_3228155insAAAAA | CA2651691125 | SLC4A11 | c.2558+105_2558+106insTTTTT (n.2558+105_2558+106insTTTTT) c.2489+105_2489+106insTTTTT (n.2489+105_2489+106insTTTTT) c.2357+105_2357+106insTTTTT (n.2357+105_2357+106insTTTTT) c.2444+105_2444+106insTTTTT (n.2444+105_2444+106insTTTTT) c.2606+105_2606+106insTTTTT (n.2606+105_2606+106insTTTTT) c.2687+105_2687+106insTTTTT (n.2687+105_2687+106insTTTTT) c.*706+105_*706+106insTTTTT (n.*706+105_*706+106insTTTTT) c.2927+105_2927+106insTTTTT (n.2927+105_2927+106insTTTTT) c.2501+105_2501+106insTTTTT (n.2501+105_2501+106insTTTTT) c.2525+105_2525+106insTTTTT (n.2525+105_2525+106insTTTTT) n.2656+105_2656+106insTTTTT c.2921+105_2921+106insTTTTT (n.2921+105_2921+106insTTTTT) n.3101+105_3101+106insTTTTT n.3081+105_3081+106insTTTTT c.2573+105_2573+106insTTTTT (n.2573+105_2573+106insTTTTT) n.3066+105_3066+106insTTTTT | gnomAD v4 |
20 | g.3228154_3228155del | CA2651691115 | SLC4A11 | c.2558+104_2558+105del (n.2558+104_2558+105del) c.2489+104_2489+105del (n.2489+104_2489+105del) c.2357+104_2357+105del (n.2357+104_2357+105del) c.2444+104_2444+105del (n.2444+104_2444+105del) c.2606+104_2606+105del (n.2606+104_2606+105del) c.2687+104_2687+105del (n.2687+104_2687+105del) c.*706+104_*706+105del (n.*706+104_*706+105del) c.2927+104_2927+105del (n.2927+104_2927+105del) c.2501+104_2501+105del (n.2501+104_2501+105del) c.2525+104_2525+105del (n.2525+104_2525+105del) n.2656+104_2656+105del c.2921+104_2921+105del (n.2921+104_2921+105del) n.3101+104_3101+105del n.3081+104_3081+105del c.2573+104_2573+105del (n.2573+104_2573+105del) n.3066+104_3066+105del | gnomAD v4 |
20 | g.3228154_3228156del | CA2651691116 | SLC4A11 | c.2558+103_2558+105del (n.2558+103_2558+105del) c.2489+103_2489+105del (n.2489+103_2489+105del) c.2357+103_2357+105del (n.2357+103_2357+105del) c.2444+103_2444+105del (n.2444+103_2444+105del) c.2606+103_2606+105del (n.2606+103_2606+105del) c.2687+103_2687+105del (n.2687+103_2687+105del) c.*706+103_*706+105del (n.*706+103_*706+105del) c.2927+103_2927+105del (n.2927+103_2927+105del) c.2501+103_2501+105del (n.2501+103_2501+105del) c.2525+103_2525+105del (n.2525+103_2525+105del) n.2656+103_2656+105del c.2921+103_2921+105del (n.2921+103_2921+105del) n.3101+103_3101+105del n.3081+103_3081+105del c.2573+103_2573+105del (n.2573+103_2573+105del) n.3066+103_3066+105del | gnomAD v4 |
20 | g.3228154_3228158del | CA2651691117 | SLC4A11 | c.2558+101_2558+105del (n.2558+101_2558+105del) c.2489+101_2489+105del (n.2489+101_2489+105del) c.2357+101_2357+105del (n.2357+101_2357+105del) c.2444+101_2444+105del (n.2444+101_2444+105del) c.2606+101_2606+105del (n.2606+101_2606+105del) c.2687+101_2687+105del (n.2687+101_2687+105del) c.*706+101_*706+105del (n.*706+101_*706+105del) c.2927+101_2927+105del (n.2927+101_2927+105del) c.2501+101_2501+105del (n.2501+101_2501+105del) c.2525+101_2525+105del (n.2525+101_2525+105del) n.2656+101_2656+105del c.2921+101_2921+105del (n.2921+101_2921+105del) n.3101+101_3101+105del n.3081+101_3081+105del c.2573+101_2573+105del (n.2573+101_2573+105del) n.3066+101_3066+105del | gnomAD v4 |
20 | g.3228155T>A | CA1014849477 | SLC4A11 | c.2558+104A>T (n.2558+104A>T) c.2489+104A>T (n.2489+104A>T) c.2357+104A>T (n.2357+104A>T) c.2444+104A>T (n.2444+104A>T) c.2606+104A>T (n.2606+104A>T) c.2687+104A>T (n.2687+104A>T) c.*706+104A>T (n.*706+104A>T) c.2927+104A>T (n.2927+104A>T) c.2501+104A>T (n.2501+104A>T) c.2525+104A>T (n.2525+104A>T) n.2656+104A>T c.2921+104A>T (n.2921+104A>T) n.3101+104A>T n.3081+104A>T c.2573+104A>T (n.2573+104A>T) n.3066+104A>T | gnomAD v3 gnomAD v4 |
20 | g.3228155T>C | CA1014849478 | SLC4A11 | c.2558+104A>G (n.2558+104A>G) c.2489+104A>G (n.2489+104A>G) c.2357+104A>G (n.2357+104A>G) c.2444+104A>G (n.2444+104A>G) c.2606+104A>G (n.2606+104A>G) c.2687+104A>G (n.2687+104A>G) c.*706+104A>G (n.*706+104A>G) c.2927+104A>G (n.2927+104A>G) c.2501+104A>G (n.2501+104A>G) c.2525+104A>G (n.2525+104A>G) n.2656+104A>G c.2921+104A>G (n.2921+104A>G) n.3101+104A>G n.3081+104A>G c.2573+104A>G (n.2573+104A>G) n.3066+104A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3228155T>G | CA2651691136 | SLC4A11 | c.2558+104A>C (n.2558+104A>C) c.2489+104A>C (n.2489+104A>C) c.2357+104A>C (n.2357+104A>C) c.2444+104A>C (n.2444+104A>C) c.2606+104A>C (n.2606+104A>C) c.2687+104A>C (n.2687+104A>C) c.*706+104A>C (n.*706+104A>C) c.2927+104A>C (n.2927+104A>C) c.2501+104A>C (n.2501+104A>C) c.2525+104A>C (n.2525+104A>C) n.2656+104A>C c.2921+104A>C (n.2921+104A>C) n.3101+104A>C n.3081+104A>C c.2573+104A>C (n.2573+104A>C) n.3066+104A>C | gnomAD v4 |
20 | g.3228155T= | CA2346474843 | SLC4A11 | c.2558+104A= (n.2558+104A=) c.2489+104A= (n.2489+104A=) c.2357+104A= (n.2357+104A=) c.2444+104A= (n.2444+104A=) c.2606+104A= (n.2606+104A=) c.2687+104A= (n.2687+104A=) c.*706+104A= (n.*706+104A=) c.2927+104A= (n.2927+104A=) c.2501+104A= (n.2501+104A=) c.2525+104A= (n.2525+104A=) n.2656+104A= c.2921+104A= (n.2921+104A=) n.3101+104A= n.3081+104A= c.2573+104A= (n.2573+104A=) n.3066+104A= | |
20 | g.3228155_3228156del | CA2651691139 | SLC4A11 | c.2558+103_2558+104del (n.2558+103_2558+104del) c.2489+103_2489+104del (n.2489+103_2489+104del) c.2357+103_2357+104del (n.2357+103_2357+104del) c.2444+103_2444+104del (n.2444+103_2444+104del) c.2606+103_2606+104del (n.2606+103_2606+104del) c.2687+103_2687+104del (n.2687+103_2687+104del) c.*706+103_*706+104del (n.*706+103_*706+104del) c.2927+103_2927+104del (n.2927+103_2927+104del) c.2501+103_2501+104del (n.2501+103_2501+104del) c.2525+103_2525+104del (n.2525+103_2525+104del) n.2656+103_2656+104del c.2921+103_2921+104del (n.2921+103_2921+104del) n.3101+103_3101+104del n.3081+103_3081+104del c.2573+103_2573+104del (n.2573+103_2573+104del) n.3066+103_3066+104del | gnomAD v4 |
20 | g.3228156dup | CA2651691140 | SLC4A11 | c.2558+104dup (n.2558+104dup) c.2489+104dup (n.2489+104dup) c.2357+104dup (n.2357+104dup) c.2444+104dup (n.2444+104dup) c.2606+104dup (n.2606+104dup) c.2687+104dup (n.2687+104dup) c.*706+104dup (n.*706+104dup) c.2927+104dup (n.2927+104dup) c.2501+104dup (n.2501+104dup) c.2525+104dup (n.2525+104dup) n.2656+104dup c.2921+104dup (n.2921+104dup) n.3101+104dup n.3081+104dup c.2573+104dup (n.2573+104dup) n.3066+104dup | gnomAD v4 |
20 | g.3228155_3228158del | CA2651691138 | SLC4A11 | c.2558+101_2558+104del (n.2558+101_2558+104del) c.2489+101_2489+104del (n.2489+101_2489+104del) c.2357+101_2357+104del (n.2357+101_2357+104del) c.2444+101_2444+104del (n.2444+101_2444+104del) c.2606+101_2606+104del (n.2606+101_2606+104del) c.2687+101_2687+104del (n.2687+101_2687+104del) c.*706+101_*706+104del (n.*706+101_*706+104del) c.2927+101_2927+104del (n.2927+101_2927+104del) c.2501+101_2501+104del (n.2501+101_2501+104del) c.2525+101_2525+104del (n.2525+101_2525+104del) n.2656+101_2656+104del c.2921+101_2921+104del (n.2921+101_2921+104del) n.3101+101_3101+104del n.3081+101_3081+104del c.2573+101_2573+104del (n.2573+101_2573+104del) n.3066+101_3066+104del | gnomAD v4 |
20 | g.3228155_3228161del | CA2651691137 | SLC4A11 | c.2558+98_2558+104del (n.2558+98_2558+104del) c.2489+98_2489+104del (n.2489+98_2489+104del) c.2357+98_2357+104del (n.2357+98_2357+104del) c.2444+98_2444+104del (n.2444+98_2444+104del) c.2606+98_2606+104del (n.2606+98_2606+104del) c.2687+98_2687+104del (n.2687+98_2687+104del) c.*706+98_*706+104del (n.*706+98_*706+104del) c.2927+98_2927+104del (n.2927+98_2927+104del) c.2501+98_2501+104del (n.2501+98_2501+104del) c.2525+98_2525+104del (n.2525+98_2525+104del) n.2656+98_2656+104del c.2921+98_2921+104del (n.2921+98_2921+104del) n.3101+98_3101+104del n.3081+98_3081+104del c.2573+98_2573+104del (n.2573+98_2573+104del) n.3066+98_3066+104del | gnomAD v4 |