| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34236022T>A | CA268658767 | SLC12A6 | c.3220A>T (p.Met1074Leu) c.3067A>T (p.Met1023Leu) c.3043A>T (p.Met1015Leu) c.3175A>T (p.Met1059Leu) c.3193A>T (p.Met1065Leu) c.*243A>T (n.*243A>T) c.*429A>T (n.*429A>T) c.2656A>T (p.Met886Leu) c.*458A>T (n.*458A>T) c.3073A>T (p.Met1025Leu) n.3226A>T n.4499A>T | dbSNP gnomAD v4 |
| 15 | g.34236022T>C | CA7463904 | SLC12A6 | c.3220A>G (p.Met1074Val) c.3067A>G (p.Met1023Val) c.3043A>G (p.Met1015Val) c.3175A>G (p.Met1059Val) c.3193A>G (p.Met1065Val) c.*243A>G (n.*243A>G) c.*429A>G (n.*429A>G) c.2656A>G (p.Met886Val) c.*458A>G (n.*458A>G) c.3073A>G (p.Met1025Val) n.3226A>G n.4499A>G | dbSNP ExAC |
| 15 | g.34236022T>G | CA391617443 | SLC12A6 | c.3220A>C (p.Met1074Leu) c.3067A>C (p.Met1023Leu) c.3043A>C (p.Met1015Leu) c.3175A>C (p.Met1059Leu) c.3193A>C (p.Met1065Leu) c.*243A>C (n.*243A>C) c.*429A>C (n.*429A>C) c.2656A>C (p.Met886Leu) c.*458A>C (n.*458A>C) c.3073A>C (p.Met1025Leu) n.3226A>C n.4499A>C | |
| 15 | g.34236022dup | CA16041714 | SLC12A6 | c.3220dup (p.Met1074AsnfsTer23) c.3067dup (p.Met1023AsnfsTer23) c.3043dup (p.Met1015AsnfsTer23) c.3175dup (p.Met1059AsnfsTer23) c.3193dup (p.Met1065AsnfsTer23) c.*243dup (n.*243dup) c.*429dup (n.*429dup) c.2656dup (p.Met886AsnfsTer23) c.*458dup (n.*458dup) c.3073dup (p.Met1025AsnfsTer23) n.3226dup n.4499dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.34236023G>A | CA489410662 | SLC12A6 | c.3219C>T (p.Asn1073=) c.3066C>T (p.Asn1022=) c.3042C>T (p.Asn1014=) c.3174C>T (p.Asn1058=) c.3192C>T (p.Asn1064=) c.*242C>T (n.*242C>T) c.*428C>T (n.*428C>T) c.2655C>T (p.Asn885=) c.*457C>T (n.*457C>T) c.3072C>T (p.Asn1024=) n.3225C>T n.4498C>T | |
| 15 | g.34236023G>C | CA391617445 | SLC12A6 | c.3219C>G (p.Asn1073Lys) c.3066C>G (p.Asn1022Lys) c.3042C>G (p.Asn1014Lys) c.3174C>G (p.Asn1058Lys) c.3192C>G (p.Asn1064Lys) c.*242C>G (n.*242C>G) c.*428C>G (n.*428C>G) c.2655C>G (p.Asn885Lys) c.*457C>G (n.*457C>G) c.3072C>G (p.Asn1024Lys) n.3225C>G n.4498C>G | |
| 15 | g.34236023G>T | CA391617444 | SLC12A6 | c.3219C>A (p.Asn1073Lys) c.3066C>A (p.Asn1022Lys) c.3042C>A (p.Asn1014Lys) c.3174C>A (p.Asn1058Lys) c.3192C>A (p.Asn1064Lys) c.*242C>A (n.*242C>A) c.*428C>A (n.*428C>A) c.2655C>A (p.Asn885Lys) c.*457C>A (n.*457C>A) c.3072C>A (p.Asn1024Lys) n.3225C>A n.4498C>A | |
| 15 | g.34236024T>A | CA391617446 | SLC12A6 | c.3218A>T (p.Asn1073Ile) c.3065A>T (p.Asn1022Ile) c.3041A>T (p.Asn1014Ile) c.3173A>T (p.Asn1058Ile) c.3191A>T (p.Asn1064Ile) c.*241A>T (n.*241A>T) c.*427A>T (n.*427A>T) c.2654A>T (p.Asn885Ile) c.*456A>T (n.*456A>T) c.3071A>T (p.Asn1024Ile) n.3224A>T n.4497A>T | |
| 15 | g.34236024T>C | CA391617447 | SLC12A6 | c.3218A>G (p.Asn1073Ser) c.3065A>G (p.Asn1022Ser) c.3041A>G (p.Asn1014Ser) c.3173A>G (p.Asn1058Ser) c.3191A>G (p.Asn1064Ser) c.*241A>G (n.*241A>G) c.*427A>G (n.*427A>G) c.2654A>G (p.Asn885Ser) c.*456A>G (n.*456A>G) c.3071A>G (p.Asn1024Ser) n.3224A>G n.4497A>G | |
| 15 | g.34236024T>G | CA391617448 | SLC12A6 | c.3218A>C (p.Asn1073Thr) c.3065A>C (p.Asn1022Thr) c.3041A>C (p.Asn1014Thr) c.3173A>C (p.Asn1058Thr) c.3191A>C (p.Asn1064Thr) c.*241A>C (n.*241A>C) c.*427A>C (n.*427A>C) c.2654A>C (p.Asn885Thr) c.*456A>C (n.*456A>C) c.3071A>C (p.Asn1024Thr) n.3224A>C n.4497A>C | |
| 15 | g.34236025dup | CA912980384 | SLC12A6 | c.3218dup (p.Asn1073LysfsTer24) c.3065dup (p.Asn1022LysfsTer24) c.3041dup (p.Asn1014LysfsTer24) c.3173dup (p.Asn1058LysfsTer24) c.3191dup (p.Asn1064LysfsTer24) c.*241dup (n.*241dup) c.*427dup (n.*427dup) c.2654dup (p.Asn885LysfsTer24) c.*456dup (n.*456dup) c.3071dup (p.Asn1024LysfsTer24) n.3224dup n.4497dup | |
| 15 | g.34236025T>A | CA391617449 | SLC12A6 | c.3217A>T (p.Asn1073Tyr) c.3064A>T (p.Asn1022Tyr) c.3040A>T (p.Asn1014Tyr) c.3172A>T (p.Asn1058Tyr) c.3190A>T (p.Asn1064Tyr) c.*240A>T (n.*240A>T) c.*426A>T (n.*426A>T) c.2653A>T (p.Asn885Tyr) c.*455A>T (n.*455A>T) c.3070A>T (p.Asn1024Tyr) n.3223A>T n.4496A>T | |
| 15 | g.34236025T>C | CA391617450 | SLC12A6 | c.3217A>G (p.Asn1073Asp) c.3064A>G (p.Asn1022Asp) c.3040A>G (p.Asn1014Asp) c.3172A>G (p.Asn1058Asp) c.3190A>G (p.Asn1064Asp) c.*240A>G (n.*240A>G) c.*426A>G (n.*426A>G) c.2653A>G (p.Asn885Asp) c.*455A>G (n.*455A>G) c.3070A>G (p.Asn1024Asp) n.3223A>G n.4496A>G | |
| 15 | g.34236025T>G | CA391617451 | SLC12A6 | c.3217A>C (p.Asn1073His) c.3064A>C (p.Asn1022His) c.3040A>C (p.Asn1014His) c.3172A>C (p.Asn1058His) c.3190A>C (p.Asn1064His) c.*240A>C (n.*240A>C) c.*426A>C (n.*426A>C) c.2653A>C (p.Asn885His) c.*455A>C (n.*455A>C) c.3070A>C (p.Asn1024His) n.3223A>C n.4496A>C | |
| 15 | g.34236026A>C | CA489410669 | SLC12A6 | c.3216T>G (p.Leu1072=) c.3063T>G (p.Leu1021=) c.3039T>G (p.Leu1013=) c.3171T>G (p.Leu1057=) c.3189T>G (p.Leu1063=) c.*239T>G (n.*239T>G) c.*425T>G (n.*425T>G) c.2652T>G (p.Leu884=) c.*454T>G (n.*454T>G) c.3069T>G (p.Leu1023=) n.3222T>G n.4495T>G | |
| 15 | g.34236026A>G | CA489410670 | SLC12A6 | c.3216T>C (p.Leu1072=) c.3063T>C (p.Leu1021=) c.3039T>C (p.Leu1013=) c.3171T>C (p.Leu1057=) c.3189T>C (p.Leu1063=) c.*239T>C (n.*239T>C) c.*425T>C (n.*425T>C) c.2652T>C (p.Leu884=) c.*454T>C (n.*454T>C) c.3069T>C (p.Leu1023=) n.3222T>C n.4495T>C | |
| 15 | g.34236026A>T | CA489410672 | SLC12A6 | c.3216T>A (p.Leu1072=) c.3063T>A (p.Leu1021=) c.3039T>A (p.Leu1013=) c.3171T>A (p.Leu1057=) c.3189T>A (p.Leu1063=) c.*239T>A (n.*239T>A) c.*425T>A (n.*425T>A) c.2652T>A (p.Leu884=) c.*454T>A (n.*454T>A) c.3069T>A (p.Leu1023=) n.3222T>A n.4495T>A | |
| 15 | g.34236027dup | CA658824088 | SLC12A6 | c.3216dup (p.Asn1073Ter) c.3063dup (p.Asn1022Ter) c.3039dup (p.Asn1014Ter) c.3171dup (p.Asn1058Ter) c.3189dup (p.Asn1064Ter) c.*239dup (n.*239dup) c.*425dup (n.*425dup) c.2652dup (p.Asn885Ter) c.*454dup (n.*454dup) c.3069dup (p.Asn1024Ter) n.3222dup n.4495dup | ClinVar dbSNP |
| 15 | g.34236027A>C | CA391617452 | SLC12A6 | c.3215T>G (p.Leu1072Arg) c.3062T>G (p.Leu1021Arg) c.3038T>G (p.Leu1013Arg) c.3170T>G (p.Leu1057Arg) c.3188T>G (p.Leu1063Arg) c.*238T>G (n.*238T>G) c.*424T>G (n.*424T>G) c.2651T>G (p.Leu884Arg) c.*453T>G (n.*453T>G) c.3068T>G (p.Leu1023Arg) n.3221T>G n.4494T>G | |
| 15 | g.34236027A>G | CA391617453 | SLC12A6 | c.3215T>C (p.Leu1072Pro) c.3062T>C (p.Leu1021Pro) c.3038T>C (p.Leu1013Pro) c.3170T>C (p.Leu1057Pro) c.3188T>C (p.Leu1063Pro) c.*238T>C (n.*238T>C) c.*424T>C (n.*424T>C) c.2651T>C (p.Leu884Pro) c.*453T>C (n.*453T>C) c.3068T>C (p.Leu1023Pro) n.3221T>C n.4494T>C | |
| 15 | g.34236027A>T | CA391617454 | SLC12A6 | c.3215T>A (p.Leu1072His) c.3062T>A (p.Leu1021His) c.3038T>A (p.Leu1013His) c.3170T>A (p.Leu1057His) c.3188T>A (p.Leu1063His) c.*238T>A (n.*238T>A) c.*424T>A (n.*424T>A) c.2651T>A (p.Leu884His) c.*453T>A (n.*453T>A) c.3068T>A (p.Leu1023His) n.3221T>A n.4494T>A | |
| 15 | g.34236028G>A | CA391617455 | SLC12A6 | c.3214C>T (p.Leu1072Phe) c.3061C>T (p.Leu1021Phe) c.3037C>T (p.Leu1013Phe) c.3169C>T (p.Leu1057Phe) c.3187C>T (p.Leu1063Phe) c.*237C>T (n.*237C>T) c.*423C>T (n.*423C>T) c.2650C>T (p.Leu884Phe) c.*452C>T (n.*452C>T) c.3067C>T (p.Leu1023Phe) n.3220C>T n.4493C>T | |
| 15 | g.34236028G>C | CA391617456 | SLC12A6 | c.3214C>G (p.Leu1072Val) c.3061C>G (p.Leu1021Val) c.3037C>G (p.Leu1013Val) c.3169C>G (p.Leu1057Val) c.3187C>G (p.Leu1063Val) c.*237C>G (n.*237C>G) c.*423C>G (n.*423C>G) c.2650C>G (p.Leu884Val) c.*452C>G (n.*452C>G) c.3067C>G (p.Leu1023Val) n.3220C>G n.4493C>G | |
| 15 | g.34236028G>T | CA391617457 | SLC12A6 | c.3214C>A (p.Leu1072Ile) c.3061C>A (p.Leu1021Ile) c.3037C>A (p.Leu1013Ile) c.3169C>A (p.Leu1057Ile) c.3187C>A (p.Leu1063Ile) c.*237C>A (n.*237C>A) c.*423C>A (n.*423C>A) c.2650C>A (p.Leu884Ile) c.*452C>A (n.*452C>A) c.3067C>A (p.Leu1023Ile) n.3220C>A n.4493C>A | |
| 15 | g.34236029C>A | CA489410677 | SLC12A6 | c.3213G>T (p.Leu1071=) c.3060G>T (p.Leu1020=) c.3036G>T (p.Leu1012=) c.3168G>T (p.Leu1056=) c.3186G>T (p.Leu1062=) c.*236G>T (n.*236G>T) c.*422G>T (n.*422G>T) c.2649G>T (p.Leu883=) c.*451G>T (n.*451G>T) c.3066G>T (p.Leu1022=) n.3219G>T n.4492G>T | |
| 15 | g.34236029C>G | CA7463905 | SLC12A6 | c.3213G>C (p.Leu1071=) c.3060G>C (p.Leu1020=) c.3036G>C (p.Leu1012=) c.3168G>C (p.Leu1056=) c.3186G>C (p.Leu1062=) c.*236G>C (n.*236G>C) c.*422G>C (n.*422G>C) c.2649G>C (p.Leu883=) c.*451G>C (n.*451G>C) c.3066G>C (p.Leu1022=) n.3219G>C n.4492G>C | dbSNP ExAC gnomAD v4 |
| 15 | g.34236029C>T | CA489410679 | SLC12A6 | c.3213G>A (p.Leu1071=) c.3060G>A (p.Leu1020=) c.3036G>A (p.Leu1012=) c.3168G>A (p.Leu1056=) c.3186G>A (p.Leu1062=) c.*236G>A (n.*236G>A) c.*422G>A (n.*422G>A) c.2649G>A (p.Leu883=) c.*451G>A (n.*451G>A) c.3066G>A (p.Leu1022=) n.3219G>A n.4492G>A | |
| 15 | g.34236030A>C | CA391617460 | SLC12A6 | c.3212T>G (p.Leu1071Arg) c.3059T>G (p.Leu1020Arg) c.3035T>G (p.Leu1012Arg) c.3167T>G (p.Leu1056Arg) c.3185T>G (p.Leu1062Arg) c.*235T>G (n.*235T>G) c.*421T>G (n.*421T>G) c.2648T>G (p.Leu883Arg) c.*450T>G (n.*450T>G) c.3065T>G (p.Leu1022Arg) n.3218T>G n.4491T>G | |
| 15 | g.34236030A>G | CA391617459 | SLC12A6 | c.3212T>C (p.Leu1071Pro) c.3059T>C (p.Leu1020Pro) c.3035T>C (p.Leu1012Pro) c.3167T>C (p.Leu1056Pro) c.3185T>C (p.Leu1062Pro) c.*235T>C (n.*235T>C) c.*421T>C (n.*421T>C) c.2648T>C (p.Leu883Pro) c.*450T>C (n.*450T>C) c.3065T>C (p.Leu1022Pro) n.3218T>C n.4491T>C | |
| 15 | g.34236030A>T | CA391617458 | SLC12A6 | c.3212T>A (p.Leu1071Gln) c.3059T>A (p.Leu1020Gln) c.3035T>A (p.Leu1012Gln) c.3167T>A (p.Leu1056Gln) c.3185T>A (p.Leu1062Gln) c.*235T>A (n.*235T>A) c.*421T>A (n.*421T>A) c.2648T>A (p.Leu883Gln) c.*450T>A (n.*450T>A) c.3065T>A (p.Leu1022Gln) n.3218T>A n.4491T>A | |
| 15 | g.34236031G>A | CA489410684 | SLC12A6 | c.3211C>T (p.Leu1071=) c.3058C>T (p.Leu1020=) c.3034C>T (p.Leu1012=) c.3166C>T (p.Leu1056=) c.3184C>T (p.Leu1062=) c.*234C>T (n.*234C>T) c.*420C>T (n.*420C>T) c.2647C>T (p.Leu883=) c.*449C>T (n.*449C>T) c.3064C>T (p.Leu1022=) n.3217C>T n.4490C>T | ClinVar |
| 15 | g.34236031G>C | CA391617462 | SLC12A6 | c.3211C>G (p.Leu1071Val) c.3058C>G (p.Leu1020Val) c.3034C>G (p.Leu1012Val) c.3166C>G (p.Leu1056Val) c.3184C>G (p.Leu1062Val) c.*234C>G (n.*234C>G) c.*420C>G (n.*420C>G) c.2647C>G (p.Leu883Val) c.*449C>G (n.*449C>G) c.3064C>G (p.Leu1022Val) n.3217C>G n.4490C>G | |
| 15 | g.34236031G>T | CA391617461 | SLC12A6 | c.3211C>A (p.Leu1071Met) c.3058C>A (p.Leu1020Met) c.3034C>A (p.Leu1012Met) c.3166C>A (p.Leu1056Met) c.3184C>A (p.Leu1062Met) c.*234C>A (n.*234C>A) c.*420C>A (n.*420C>A) c.2647C>A (p.Leu883Met) c.*449C>A (n.*449C>A) c.3064C>A (p.Leu1022Met) n.3217C>A n.4490C>A | |
| 15 | g.34236032G>A | CA489410688 | SLC12A6 | c.3210C>T (p.Asp1070=) c.3057C>T (p.Asp1019=) c.3033C>T (p.Asp1011=) c.3165C>T (p.Asp1055=) c.3183C>T (p.Asp1061=) c.*233C>T (n.*233C>T) c.*419C>T (n.*419C>T) c.2646C>T (p.Asp882=) c.*448C>T (n.*448C>T) c.3063C>T (p.Asp1021=) n.3216C>T n.4489C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34236032G>C | CA391617464 | SLC12A6 | c.3210C>G (p.Asp1070Glu) c.3057C>G (p.Asp1019Glu) c.3033C>G (p.Asp1011Glu) c.3165C>G (p.Asp1055Glu) c.3183C>G (p.Asp1061Glu) c.*233C>G (n.*233C>G) c.*419C>G (n.*419C>G) c.2646C>G (p.Asp882Glu) c.*448C>G (n.*448C>G) c.3063C>G (p.Asp1021Glu) n.3216C>G n.4489C>G | |
| 15 | g.34236032G>T | CA391617463 | SLC12A6 | c.3210C>A (p.Asp1070Glu) c.3057C>A (p.Asp1019Glu) c.3033C>A (p.Asp1011Glu) c.3165C>A (p.Asp1055Glu) c.3183C>A (p.Asp1061Glu) c.*233C>A (n.*233C>A) c.*419C>A (n.*419C>A) c.2646C>A (p.Asp882Glu) c.*448C>A (n.*448C>A) c.3063C>A (p.Asp1021Glu) n.3216C>A n.4489C>A | |
| 15 | g.34236033T>A | CA391617465 | SLC12A6 | c.3209A>T (p.Asp1070Val) c.3056A>T (p.Asp1019Val) c.3032A>T (p.Asp1011Val) c.3164A>T (p.Asp1055Val) c.3182A>T (p.Asp1061Val) c.*232A>T (n.*232A>T) c.*418A>T (n.*418A>T) c.2645A>T (p.Asp882Val) c.*447A>T (n.*447A>T) c.3062A>T (p.Asp1021Val) n.3215A>T n.4488A>T | dbSNP gnomAD v4 |
| 15 | g.34236033T>C | CA391617466 | SLC12A6 | c.3209A>G (p.Asp1070Gly) c.3056A>G (p.Asp1019Gly) c.3032A>G (p.Asp1011Gly) c.3164A>G (p.Asp1055Gly) c.3182A>G (p.Asp1061Gly) c.*232A>G (n.*232A>G) c.*418A>G (n.*418A>G) c.2645A>G (p.Asp882Gly) c.*447A>G (n.*447A>G) c.3062A>G (p.Asp1021Gly) n.3215A>G n.4488A>G | |
| 15 | g.34236033T>G | CA391617467 | SLC12A6 | c.3209A>C (p.Asp1070Ala) c.3056A>C (p.Asp1019Ala) c.3032A>C (p.Asp1011Ala) c.3164A>C (p.Asp1055Ala) c.3182A>C (p.Asp1061Ala) c.*232A>C (n.*232A>C) c.*418A>C (n.*418A>C) c.2645A>C (p.Asp882Ala) c.*447A>C (n.*447A>C) c.3062A>C (p.Asp1021Ala) n.3215A>C n.4488A>C | |
| 15 | g.34236034C>A | CA391617468 | SLC12A6 | c.3208G>T (p.Asp1070Tyr) c.3055G>T (p.Asp1019Tyr) c.3031G>T (p.Asp1011Tyr) c.3163G>T (p.Asp1055Tyr) c.3181G>T (p.Asp1061Tyr) c.*231G>T (n.*231G>T) c.*417G>T (n.*417G>T) c.2644G>T (p.Asp882Tyr) c.*446G>T (n.*446G>T) c.3061G>T (p.Asp1021Tyr) n.3214G>T n.4487G>T | |
| 15 | g.34236034C>G | CA391617469 | SLC12A6 | c.3208G>C (p.Asp1070His) c.3055G>C (p.Asp1019His) c.3031G>C (p.Asp1011His) c.3163G>C (p.Asp1055His) c.3181G>C (p.Asp1061His) c.*231G>C (n.*231G>C) c.*417G>C (n.*417G>C) c.2644G>C (p.Asp882His) c.*446G>C (n.*446G>C) c.3061G>C (p.Asp1021His) n.3214G>C n.4487G>C | |
| 15 | g.34236034C>T | CA391617470 | SLC12A6 | c.3208G>A (p.Asp1070Asn) c.3055G>A (p.Asp1019Asn) c.3031G>A (p.Asp1011Asn) c.3163G>A (p.Asp1055Asn) c.3181G>A (p.Asp1061Asn) c.*231G>A (n.*231G>A) c.*417G>A (n.*417G>A) c.2644G>A (p.Asp882Asn) c.*446G>A (n.*446G>A) c.3061G>A (p.Asp1021Asn) n.3214G>A n.4487G>A | |
| 15 | g.34236035C>A | CA391617471 | SLC12A6 | c.3207G>T (p.Gln1069His) c.3054G>T (p.Gln1018His) c.3030G>T (p.Gln1010His) c.3162G>T (p.Gln1054His) c.3180G>T (p.Gln1060His) c.*230G>T (n.*230G>T) c.*416G>T (n.*416G>T) c.2643G>T (p.Gln881His) c.*445G>T (n.*445G>T) c.3060G>T (p.Gln1020His) n.3213G>T n.4486G>T | |
| 15 | g.34236035C>G | CA391617472 | SLC12A6 | c.3207G>C (p.Gln1069His) c.3054G>C (p.Gln1018His) c.3030G>C (p.Gln1010His) c.3162G>C (p.Gln1054His) c.3180G>C (p.Gln1060His) c.*230G>C (n.*230G>C) c.*416G>C (n.*416G>C) c.2643G>C (p.Gln881His) c.*445G>C (n.*445G>C) c.3060G>C (p.Gln1020His) n.3213G>C n.4486G>C | gnomAD v4 |
| 15 | g.34236035C>T | CA7463906 | SLC12A6 | c.3207G>A (p.Gln1069=) c.3054G>A (p.Gln1018=) c.3030G>A (p.Gln1010=) c.3162G>A (p.Gln1054=) c.3180G>A (p.Gln1060=) c.*230G>A (n.*230G>A) c.*416G>A (n.*416G>A) c.2643G>A (p.Gln881=) c.*445G>A (n.*445G>A) c.3060G>A (p.Gln1020=) n.3213G>A n.4486G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34236036T>A | CA391617473 | SLC12A6 | c.3206A>T (p.Gln1069Leu) c.3053A>T (p.Gln1018Leu) c.3029A>T (p.Gln1010Leu) c.3161A>T (p.Gln1054Leu) c.3179A>T (p.Gln1060Leu) c.*229A>T (n.*229A>T) c.*415A>T (n.*415A>T) c.2642A>T (p.Gln881Leu) c.*444A>T (n.*444A>T) c.3059A>T (p.Gln1020Leu) n.3212A>T n.4485A>T | |
| 15 | g.34236036T>C | CA391617474 | SLC12A6 | c.3206A>G (p.Gln1069Arg) c.3053A>G (p.Gln1018Arg) c.3029A>G (p.Gln1010Arg) c.3161A>G (p.Gln1054Arg) c.3179A>G (p.Gln1060Arg) c.*229A>G (n.*229A>G) c.*415A>G (n.*415A>G) c.2642A>G (p.Gln881Arg) c.*444A>G (n.*444A>G) c.3059A>G (p.Gln1020Arg) n.3212A>G n.4485A>G | |
| 15 | g.34236036T>G | CA391617475 | SLC12A6 | c.3206A>C (p.Gln1069Pro) c.3053A>C (p.Gln1018Pro) c.3029A>C (p.Gln1010Pro) c.3161A>C (p.Gln1054Pro) c.3179A>C (p.Gln1060Pro) c.*229A>C (n.*229A>C) c.*415A>C (n.*415A>C) c.2642A>C (p.Gln881Pro) c.*444A>C (n.*444A>C) c.3059A>C (p.Gln1020Pro) n.3212A>C n.4485A>C | |
| 15 | g.34236037G>A | CA391617478 | SLC12A6 | c.3205C>T (p.Gln1069Ter) c.3052C>T (p.Gln1018Ter) c.3028C>T (p.Gln1010Ter) c.3160C>T (p.Gln1054Ter) c.3178C>T (p.Gln1060Ter) c.*228C>T (n.*228C>T) c.*414C>T (n.*414C>T) c.2641C>T (p.Gln881Ter) c.*443C>T (n.*443C>T) c.3058C>T (p.Gln1020Ter) n.3211C>T n.4484C>T | ClinVar gnomAD v4 |
| 15 | g.34236037G>C | CA391617476 | SLC12A6 | c.3205C>G (p.Gln1069Glu) c.3052C>G (p.Gln1018Glu) c.3028C>G (p.Gln1010Glu) c.3160C>G (p.Gln1054Glu) c.3178C>G (p.Gln1060Glu) c.*228C>G (n.*228C>G) c.*414C>G (n.*414C>G) c.2641C>G (p.Gln881Glu) c.*443C>G (n.*443C>G) c.3058C>G (p.Gln1020Glu) n.3211C>G n.4484C>G | gnomAD v4 |