UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34240692T>A | CA391619608 | SLC12A6 | c.2405A>T (p.Glu802Val) c.2252A>T (p.Glu751Val) c.2228A>T (p.Glu743Val) c.2360A>T (p.Glu787Val) c.2378A>T (p.Glu793Val) n.353A>T c.1841A>T (p.Glu614Val) c.2258A>T (p.Glu753Val) n.2411A>T n.2412A>T n.3655A>T | |
| 15 | g.34240692T>C | CA391619609 | SLC12A6 | c.2405A>G (p.Glu802Gly) c.2252A>G (p.Glu751Gly) c.2228A>G (p.Glu743Gly) c.2360A>G (p.Glu787Gly) c.2378A>G (p.Glu793Gly) n.353A>G c.1841A>G (p.Glu614Gly) c.2258A>G (p.Glu753Gly) n.2411A>G n.2412A>G n.3655A>G | dbSNP |
| 15 | g.34240692T>G | CA391619610 | SLC12A6 | c.2405A>C (p.Glu802Ala) c.2252A>C (p.Glu751Ala) c.2228A>C (p.Glu743Ala) c.2360A>C (p.Glu787Ala) c.2378A>C (p.Glu793Ala) n.353A>C c.1841A>C (p.Glu614Ala) c.2258A>C (p.Glu753Ala) n.2411A>C n.2412A>C n.3655A>C | gnomAD v4 |
| 15 | g.34240693C>A | CA391619611 | SLC12A6 | c.2404G>T (p.Glu802Ter) c.2251G>T (p.Glu751Ter) c.2227G>T (p.Glu743Ter) c.2359G>T (p.Glu787Ter) c.2377G>T (p.Glu793Ter) n.352G>T c.1840G>T (p.Glu614Ter) c.2257G>T (p.Glu753Ter) n.2410G>T n.2411G>T n.3654G>T | |
| 15 | g.34240693C>G | CA391619612 | SLC12A6 | c.2404G>C (p.Glu802Gln) c.2251G>C (p.Glu751Gln) c.2227G>C (p.Glu743Gln) c.2359G>C (p.Glu787Gln) c.2377G>C (p.Glu793Gln) n.352G>C c.1840G>C (p.Glu614Gln) c.2257G>C (p.Glu753Gln) n.2410G>C n.2411G>C n.3654G>C | |
| 15 | g.34240693C>T | CA391619613 | SLC12A6 | c.2404G>A (p.Glu802Lys) c.2251G>A (p.Glu751Lys) c.2227G>A (p.Glu743Lys) c.2359G>A (p.Glu787Lys) c.2377G>A (p.Glu793Lys) n.352G>A c.1840G>A (p.Glu614Lys) c.2257G>A (p.Glu753Lys) n.2410G>A n.2411G>A n.3654G>A | dbSNP gnomAD v4 |
| 15 | g.34240694T>A | CA489413372 | SLC12A6 | c.2403A>T (p.Leu801=) c.2250A>T (p.Leu750=) c.2226A>T (p.Leu742=) c.2358A>T (p.Leu786=) c.2376A>T (p.Leu792=) n.351A>T c.1839A>T (p.Leu613=) c.2256A>T (p.Leu752=) n.2409A>T n.2410A>T n.3653A>T | |
| 15 | g.34240694T>C | CA489413371 | SLC12A6 | c.2403A>G (p.Leu801=) c.2250A>G (p.Leu750=) c.2226A>G (p.Leu742=) c.2358A>G (p.Leu786=) c.2376A>G (p.Leu792=) n.351A>G c.1839A>G (p.Leu613=) c.2256A>G (p.Leu752=) n.2409A>G n.2410A>G n.3653A>G | |
| 15 | g.34240694T>G | CA489413374 | SLC12A6 | c.2403A>C (p.Leu801=) c.2250A>C (p.Leu750=) c.2226A>C (p.Leu742=) c.2358A>C (p.Leu786=) c.2376A>C (p.Leu792=) n.351A>C c.1839A>C (p.Leu613=) c.2256A>C (p.Leu752=) n.2409A>C n.2410A>C n.3653A>C | |
| 15 | g.34240695A>C | CA391619614 | SLC12A6 | c.2402T>G (p.Leu801Arg) c.2249T>G (p.Leu750Arg) c.2225T>G (p.Leu742Arg) c.2357T>G (p.Leu786Arg) c.2375T>G (p.Leu792Arg) n.350T>G c.1838T>G (p.Leu613Arg) c.2255T>G (p.Leu752Arg) n.2408T>G n.2409T>G n.3652T>G | |
| 15 | g.34240695A>G | CA391619615 | SLC12A6 | c.2402T>C (p.Leu801Pro) c.2249T>C (p.Leu750Pro) c.2225T>C (p.Leu742Pro) c.2357T>C (p.Leu786Pro) c.2375T>C (p.Leu792Pro) n.350T>C c.1838T>C (p.Leu613Pro) c.2255T>C (p.Leu752Pro) n.2408T>C n.2409T>C n.3652T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240695A>T | CA391619616 | SLC12A6 | c.2402T>A (p.Leu801Gln) c.2249T>A (p.Leu750Gln) c.2225T>A (p.Leu742Gln) c.2357T>A (p.Leu786Gln) c.2375T>A (p.Leu792Gln) n.350T>A c.1838T>A (p.Leu613Gln) c.2255T>A (p.Leu752Gln) n.2408T>A n.2409T>A n.3652T>A | |
| 15 | g.34240696G>A | CA489413380 | SLC12A6 | c.2401C>T (p.Leu801=) c.2248C>T (p.Leu750=) c.2224C>T (p.Leu742=) c.2356C>T (p.Leu786=) c.2374C>T (p.Leu792=) n.349C>T c.1837C>T (p.Leu613=) c.2254C>T (p.Leu752=) n.2407C>T n.2408C>T n.3651C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.34240696G>C | CA391619617 | SLC12A6 | c.2401C>G (p.Leu801Val) c.2248C>G (p.Leu750Val) c.2224C>G (p.Leu742Val) c.2356C>G (p.Leu786Val) c.2374C>G (p.Leu792Val) n.349C>G c.1837C>G (p.Leu613Val) c.2254C>G (p.Leu752Val) n.2407C>G n.2408C>G n.3651C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34240696G>T | CA391619618 | SLC12A6 | c.2401C>A (p.Leu801Ile) c.2248C>A (p.Leu750Ile) c.2224C>A (p.Leu742Ile) c.2356C>A (p.Leu786Ile) c.2374C>A (p.Leu792Ile) n.349C>A c.1837C>A (p.Leu613Ile) c.2254C>A (p.Leu752Ile) n.2407C>A n.2408C>A n.3651C>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240697del | CA2695197241 | SLC12A6 | c.2401del (p.Leu801Ter) c.2248del (p.Leu750Ter) c.2224del (p.Leu742Ter) c.2356del (p.Leu786Ter) c.2374del (p.Leu792Ter) n.349del c.1837del (p.Leu613Ter) c.2254del (p.Leu752Ter) n.2407del n.2408del n.3651del | ClinVar |
| 15 | g.34240697G>A | CA489413383 | SLC12A6 | c.2400C>T (p.Phe800=) c.2247C>T (p.Phe749=) c.2223C>T (p.Phe741=) c.2355C>T (p.Phe785=) c.2373C>T (p.Phe791=) n.348C>T c.1836C>T (p.Phe612=) c.2253C>T (p.Phe751=) n.2406C>T n.2407C>T n.3650C>T | |
| 15 | g.34240697G>C | CA391619619 | SLC12A6 | c.2400C>G (p.Phe800Leu) c.2247C>G (p.Phe749Leu) c.2223C>G (p.Phe741Leu) c.2355C>G (p.Phe785Leu) c.2373C>G (p.Phe791Leu) n.348C>G c.1836C>G (p.Phe612Leu) c.2253C>G (p.Phe751Leu) n.2406C>G n.2407C>G n.3650C>G | |
| 15 | g.34240697G>T | CA391619620 | SLC12A6 | c.2400C>A (p.Phe800Leu) c.2247C>A (p.Phe749Leu) c.2223C>A (p.Phe741Leu) c.2355C>A (p.Phe785Leu) c.2373C>A (p.Phe791Leu) n.348C>A c.1836C>A (p.Phe612Leu) c.2253C>A (p.Phe751Leu) n.2406C>A n.2407C>A n.3650C>A | |
| 15 | g.34240698A>C | CA391619623 | SLC12A6 | c.2399T>G (p.Phe800Cys) c.2246T>G (p.Phe749Cys) c.2222T>G (p.Phe741Cys) c.2354T>G (p.Phe785Cys) c.2372T>G (p.Phe791Cys) n.347T>G c.1835T>G (p.Phe612Cys) c.2252T>G (p.Phe751Cys) n.2405T>G n.2406T>G n.3649T>G | |
| 15 | g.34240698A>G | CA391619621 | SLC12A6 | c.2399T>C (p.Phe800Ser) c.2246T>C (p.Phe749Ser) c.2222T>C (p.Phe741Ser) c.2354T>C (p.Phe785Ser) c.2372T>C (p.Phe791Ser) n.347T>C c.1835T>C (p.Phe612Ser) c.2252T>C (p.Phe751Ser) n.2405T>C n.2406T>C n.3649T>C | |
| 15 | g.34240698A>T | CA391619622 | SLC12A6 | c.2399T>A (p.Phe800Tyr) c.2246T>A (p.Phe749Tyr) c.2222T>A (p.Phe741Tyr) c.2354T>A (p.Phe785Tyr) c.2372T>A (p.Phe791Tyr) n.347T>A c.1835T>A (p.Phe612Tyr) c.2252T>A (p.Phe751Tyr) n.2405T>A n.2406T>A n.3649T>A | |
| 15 | g.34240699A>C | CA391619624 | SLC12A6 | c.2398T>G (p.Phe800Val) c.2245T>G (p.Phe749Val) c.2221T>G (p.Phe741Val) c.2353T>G (p.Phe785Val) c.2371T>G (p.Phe791Val) n.346T>G c.1834T>G (p.Phe612Val) c.2251T>G (p.Phe751Val) n.2404T>G n.2405T>G n.3648T>G | |
| 15 | g.34240699A>G | CA391619625 | SLC12A6 | c.2398T>C (p.Phe800Leu) c.2245T>C (p.Phe749Leu) c.2221T>C (p.Phe741Leu) c.2353T>C (p.Phe785Leu) c.2371T>C (p.Phe791Leu) n.346T>C c.1834T>C (p.Phe612Leu) c.2251T>C (p.Phe751Leu) n.2404T>C n.2405T>C n.3648T>C | |
| 15 | g.34240699A>T | CA391619626 | SLC12A6 | c.2398T>A (p.Phe800Ile) c.2245T>A (p.Phe749Ile) c.2221T>A (p.Phe741Ile) c.2353T>A (p.Phe785Ile) c.2371T>A (p.Phe791Ile) n.346T>A c.1834T>A (p.Phe612Ile) c.2251T>A (p.Phe751Ile) n.2404T>A n.2405T>A n.3648T>A | |
| 15 | g.34240700G>A | CA489413396 | SLC12A6 | c.2397C>T (p.Asn799=) c.2244C>T (p.Asn748=) c.2220C>T (p.Asn740=) c.2352C>T (p.Asn784=) c.2370C>T (p.Asn790=) n.345C>T c.1833C>T (p.Asn611=) c.2250C>T (p.Asn750=) n.2403C>T n.2404C>T n.3647C>T | |
| 15 | g.34240700G>C | CA391619627 | SLC12A6 | c.2397C>G (p.Asn799Lys) c.2244C>G (p.Asn748Lys) c.2220C>G (p.Asn740Lys) c.2352C>G (p.Asn784Lys) c.2370C>G (p.Asn790Lys) n.345C>G c.1833C>G (p.Asn611Lys) c.2250C>G (p.Asn750Lys) n.2403C>G n.2404C>G n.3647C>G | gnomAD v4 |
| 15 | g.34240700G>T | CA391619628 | SLC12A6 | c.2397C>A (p.Asn799Lys) c.2244C>A (p.Asn748Lys) c.2220C>A (p.Asn740Lys) c.2352C>A (p.Asn784Lys) c.2370C>A (p.Asn790Lys) n.345C>A c.1833C>A (p.Asn611Lys) c.2250C>A (p.Asn750Lys) n.2403C>A n.2404C>A n.3647C>A | |
| 15 | g.34240701T>A | CA391619629 | SLC12A6 | c.2396A>T (p.Asn799Ile) c.2243A>T (p.Asn748Ile) c.2219A>T (p.Asn740Ile) c.2351A>T (p.Asn784Ile) c.2369A>T (p.Asn790Ile) n.344A>T c.1832A>T (p.Asn611Ile) c.2249A>T (p.Asn750Ile) n.2402A>T n.2403A>T n.3646A>T | |
| 15 | g.34240701T>C | CA391619630 | SLC12A6 | c.2396A>G (p.Asn799Ser) c.2243A>G (p.Asn748Ser) c.2219A>G (p.Asn740Ser) c.2351A>G (p.Asn784Ser) c.2369A>G (p.Asn790Ser) n.344A>G c.1832A>G (p.Asn611Ser) c.2249A>G (p.Asn750Ser) n.2402A>G n.2403A>G n.3646A>G | gnomAD v4 |
| 15 | g.34240701T>G | CA391619631 | SLC12A6 | c.2396A>C (p.Asn799Thr) c.2243A>C (p.Asn748Thr) c.2219A>C (p.Asn740Thr) c.2351A>C (p.Asn784Thr) c.2369A>C (p.Asn790Thr) n.344A>C c.1832A>C (p.Asn611Thr) c.2249A>C (p.Asn750Thr) n.2402A>C n.2403A>C n.3646A>C | |
| 15 | g.34240702T>A | CA391619632 | SLC12A6 | c.2395A>T (p.Asn799Tyr) c.2242A>T (p.Asn748Tyr) c.2218A>T (p.Asn740Tyr) c.2350A>T (p.Asn784Tyr) c.2368A>T (p.Asn790Tyr) n.343A>T c.1831A>T (p.Asn611Tyr) c.2248A>T (p.Asn750Tyr) n.2401A>T n.2402A>T n.3645A>T | |
| 15 | g.34240702T>C | CA391619633 | SLC12A6 | c.2395A>G (p.Asn799Asp) c.2242A>G (p.Asn748Asp) c.2218A>G (p.Asn740Asp) c.2350A>G (p.Asn784Asp) c.2368A>G (p.Asn790Asp) n.343A>G c.1831A>G (p.Asn611Asp) c.2248A>G (p.Asn750Asp) n.2401A>G n.2402A>G n.3645A>G | gnomAD v4 |
| 15 | g.34240702T>G | CA391619634 | SLC12A6 | c.2395A>C (p.Asn799His) c.2242A>C (p.Asn748His) c.2218A>C (p.Asn740His) c.2350A>C (p.Asn784His) c.2368A>C (p.Asn790His) n.343A>C c.1831A>C (p.Asn611His) c.2248A>C (p.Asn750His) n.2401A>C n.2402A>C n.3645A>C | |
| 15 | g.34240703C>A | CA489413406 | SLC12A6 | c.2394G>T (p.Gly798=) c.2241G>T (p.Gly747=) c.2217G>T (p.Gly739=) c.2349G>T (p.Gly783=) c.2367G>T (p.Gly789=) n.342G>T c.1830G>T (p.Gly610=) c.2247G>T (p.Gly749=) n.2400G>T n.2401G>T n.3644G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240703C>G | CA489413405 | SLC12A6 | c.2394G>C (p.Gly798=) c.2241G>C (p.Gly747=) c.2217G>C (p.Gly739=) c.2349G>C (p.Gly783=) c.2367G>C (p.Gly789=) n.342G>C c.1830G>C (p.Gly610=) c.2247G>C (p.Gly749=) n.2400G>C n.2401G>C n.3644G>C | |
| 15 | g.34240703C>T | CA489413403 | SLC12A6 | c.2394G>A (p.Gly798=) c.2241G>A (p.Gly747=) c.2217G>A (p.Gly739=) c.2349G>A (p.Gly783=) c.2367G>A (p.Gly789=) n.342G>A c.1830G>A (p.Gly610=) c.2247G>A (p.Gly749=) n.2400G>A n.2401G>A n.3644G>A | gnomAD v4 |
| 15 | g.34240704C>A | CA391619637 | SLC12A6 | c.2393G>T (p.Gly798Val) c.2240G>T (p.Gly747Val) c.2216G>T (p.Gly739Val) c.2348G>T (p.Gly783Val) c.2366G>T (p.Gly789Val) n.341G>T c.1829G>T (p.Gly610Val) c.2246G>T (p.Gly749Val) n.2399G>T n.2400G>T n.3643G>T | |
| 15 | g.34240704C>G | CA391619636 | SLC12A6 | c.2393G>C (p.Gly798Ala) c.2240G>C (p.Gly747Ala) c.2216G>C (p.Gly739Ala) c.2348G>C (p.Gly783Ala) c.2366G>C (p.Gly789Ala) n.341G>C c.1829G>C (p.Gly610Ala) c.2246G>C (p.Gly749Ala) n.2399G>C n.2400G>C n.3643G>C | |
| 15 | g.34240704C>T | CA391619635 | SLC12A6 | c.2393G>A (p.Gly798Glu) c.2240G>A (p.Gly747Glu) c.2216G>A (p.Gly739Glu) c.2348G>A (p.Gly783Glu) c.2366G>A (p.Gly789Glu) n.341G>A c.1829G>A (p.Gly610Glu) c.2246G>A (p.Gly749Glu) n.2399G>A n.2400G>A n.3643G>A | COSMIC COSMIC COSMIC |
| 15 | g.34240705C>A | CA391619638 | SLC12A6 | c.2392G>T (p.Gly798Trp) c.2239G>T (p.Gly747Trp) c.2215G>T (p.Gly739Trp) c.2347G>T (p.Gly783Trp) c.2365G>T (p.Gly789Trp) n.340G>T c.1828G>T (p.Gly610Trp) c.2245G>T (p.Gly749Trp) n.2398G>T n.2399G>T n.3642G>T | COSMIC |
| 15 | g.34240705C>G | CA391619640 | SLC12A6 | c.2392G>C (p.Gly798Arg) c.2239G>C (p.Gly747Arg) c.2215G>C (p.Gly739Arg) c.2347G>C (p.Gly783Arg) c.2365G>C (p.Gly789Arg) n.340G>C c.1828G>C (p.Gly610Arg) c.2245G>C (p.Gly749Arg) n.2398G>C n.2399G>C n.3642G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240705C>T | CA391619639 | SLC12A6 | c.2392G>A (p.Gly798Arg) c.2239G>A (p.Gly747Arg) c.2215G>A (p.Gly739Arg) c.2347G>A (p.Gly783Arg) c.2365G>A (p.Gly789Arg) n.340G>A c.1828G>A (p.Gly610Arg) c.2245G>A (p.Gly749Arg) n.2398G>A n.2399G>A n.3642G>A | |
| 15 | g.34240706C>A | CA489413412 | SLC12A6 | c.2391G>T (p.Val797=) c.2238G>T (p.Val746=) c.2214G>T (p.Val738=) c.2346G>T (p.Val782=) c.2364G>T (p.Val788=) n.339G>T c.1827G>T (p.Val609=) c.2244G>T (p.Val748=) n.2397G>T n.2398G>T n.3641G>T | |
| 15 | g.34240706C>G | CA489413413 | SLC12A6 | c.2391G>C (p.Val797=) c.2238G>C (p.Val746=) c.2214G>C (p.Val738=) c.2346G>C (p.Val782=) c.2364G>C (p.Val788=) n.339G>C c.1827G>C (p.Val609=) c.2244G>C (p.Val748=) n.2397G>C n.2398G>C n.3641G>C | |
| 15 | g.34240706C>T | CA489413414 | SLC12A6 | c.2391G>A (p.Val797=) c.2238G>A (p.Val746=) c.2214G>A (p.Val738=) c.2346G>A (p.Val782=) c.2364G>A (p.Val788=) n.339G>A c.1827G>A (p.Val609=) c.2244G>A (p.Val748=) n.2397G>A n.2398G>A n.3641G>A | gnomAD v4 |
| 15 | g.34240707A>C | CA391619641 | SLC12A6 | c.2390T>G (p.Val797Gly) c.2237T>G (p.Val746Gly) c.2213T>G (p.Val738Gly) c.2345T>G (p.Val782Gly) c.2363T>G (p.Val788Gly) n.338T>G c.1826T>G (p.Val609Gly) c.2243T>G (p.Val748Gly) n.2396T>G n.2397T>G n.3640T>G | |
| 15 | g.34240707A>G | CA391619642 | SLC12A6 | c.2390T>C (p.Val797Ala) c.2237T>C (p.Val746Ala) c.2213T>C (p.Val738Ala) c.2345T>C (p.Val782Ala) c.2363T>C (p.Val788Ala) n.338T>C c.1826T>C (p.Val609Ala) c.2243T>C (p.Val748Ala) n.2396T>C n.2397T>C n.3640T>C | |
| 15 | g.34240707A>T | CA391619643 | SLC12A6 | c.2390T>A (p.Val797Glu) c.2237T>A (p.Val746Glu) c.2213T>A (p.Val738Glu) c.2345T>A (p.Val782Glu) c.2363T>A (p.Val788Glu) n.338T>A c.1826T>A (p.Val609Glu) c.2243T>A (p.Val748Glu) n.2396T>A n.2397T>A n.3640T>A | |
| 15 | g.34240708C>A | CA391619644 | SLC12A6 | c.2389G>T (p.Val797Leu) c.2236G>T (p.Val746Leu) c.2212G>T (p.Val738Leu) c.2344G>T (p.Val782Leu) c.2362G>T (p.Val788Leu) n.337G>T c.1825G>T (p.Val609Leu) c.2242G>T (p.Val748Leu) n.2395G>T n.2396G>T n.3639G>T | ClinVar dbSNP |
| 15 | g.34240708C>G | CA391619645 | SLC12A6 | c.2389G>C (p.Val797Leu) c.2236G>C (p.Val746Leu) c.2212G>C (p.Val738Leu) c.2344G>C (p.Val782Leu) c.2362G>C (p.Val788Leu) n.337G>C c.1825G>C (p.Val609Leu) c.2242G>C (p.Val748Leu) n.2395G>C n.2396G>C n.3639G>C | |
| 15 | g.34240708C>T | CA391619646 | SLC12A6 | c.2389G>A (p.Val797Met) c.2236G>A (p.Val746Met) c.2212G>A (p.Val738Met) c.2344G>A (p.Val782Met) c.2362G>A (p.Val788Met) n.337G>A c.1825G>A (p.Val609Met) c.2242G>A (p.Val748Met) n.2395G>A n.2396G>A n.3639G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.34240709G>A | CA7464095 | SLC12A6 | c.2388C>T (p.Ile796=) c.2235C>T (p.Ile745=) c.2211C>T (p.Ile737=) c.2343C>T (p.Ile781=) c.2361C>T (p.Ile787=) n.336C>T c.1824C>T (p.Ile608=) c.2241C>T (p.Ile747=) n.2394C>T n.2395C>T n.3638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240709G>C | CA391619647 | SLC12A6 | c.2388C>G (p.Ile796Met) c.2235C>G (p.Ile745Met) c.2211C>G (p.Ile737Met) c.2343C>G (p.Ile781Met) c.2361C>G (p.Ile787Met) n.336C>G c.1824C>G (p.Ile608Met) c.2241C>G (p.Ile747Met) n.2394C>G n.2395C>G n.3638C>G | gnomAD v4 |
| 15 | g.34240709G>T | CA489413423 | SLC12A6 | c.2388C>A (p.Ile796=) c.2235C>A (p.Ile745=) c.2211C>A (p.Ile737=) c.2343C>A (p.Ile781=) c.2361C>A (p.Ile787=) n.336C>A c.1824C>A (p.Ile608=) c.2241C>A (p.Ile747=) n.2394C>A n.2395C>A n.3638C>A | |
| 15 | g.34240710A>C | CA391619648 | SLC12A6 | c.2387T>G (p.Ile796Ser) c.2234T>G (p.Ile745Ser) c.2210T>G (p.Ile737Ser) c.2342T>G (p.Ile781Ser) c.2360T>G (p.Ile787Ser) n.335T>G c.1823T>G (p.Ile608Ser) c.2240T>G (p.Ile747Ser) n.2393T>G n.2394T>G n.3637T>G | |
| 15 | g.34240710A>G | CA391619649 | SLC12A6 | c.2387T>C (p.Ile796Thr) c.2234T>C (p.Ile745Thr) c.2210T>C (p.Ile737Thr) c.2342T>C (p.Ile781Thr) c.2360T>C (p.Ile787Thr) n.335T>C c.1823T>C (p.Ile608Thr) c.2240T>C (p.Ile747Thr) n.2393T>C n.2394T>C n.3637T>C | ClinVar |
| 15 | g.34240710A>T | CA391619650 | SLC12A6 | c.2387T>A (p.Ile796Asn) c.2234T>A (p.Ile745Asn) c.2210T>A (p.Ile737Asn) c.2342T>A (p.Ile781Asn) c.2360T>A (p.Ile787Asn) n.335T>A c.1823T>A (p.Ile608Asn) c.2240T>A (p.Ile747Asn) n.2393T>A n.2394T>A n.3637T>A | |
| 15 | g.34240711T>A | CA391619653 | SLC12A6 | c.2386A>T (p.Ile796Phe) c.2233A>T (p.Ile745Phe) c.2209A>T (p.Ile737Phe) c.2341A>T (p.Ile781Phe) c.2359A>T (p.Ile787Phe) n.334A>T c.1822A>T (p.Ile608Phe) c.2239A>T (p.Ile747Phe) n.2392A>T n.2393A>T n.3636A>T | gnomAD v4 |
| 15 | g.34240711T>C | CA391619651 | SLC12A6 | c.2386A>G (p.Ile796Val) c.2233A>G (p.Ile745Val) c.2209A>G (p.Ile737Val) c.2341A>G (p.Ile781Val) c.2359A>G (p.Ile787Val) n.334A>G c.1822A>G (p.Ile608Val) c.2239A>G (p.Ile747Val) n.2392A>G n.2393A>G n.3636A>G | dbSNP |
| 15 | g.34240711T>G | CA391619652 | SLC12A6 | c.2386A>C (p.Ile796Leu) c.2233A>C (p.Ile745Leu) c.2209A>C (p.Ile737Leu) c.2341A>C (p.Ile781Leu) c.2359A>C (p.Ile787Leu) n.334A>C c.1822A>C (p.Ile608Leu) c.2239A>C (p.Ile747Leu) n.2392A>C n.2393A>C n.3636A>C | |
| 15 | g.34240712G>A | CA7464096 | SLC12A6 | c.2385C>T (p.Val795=) c.2232C>T (p.Val744=) c.2208C>T (p.Val736=) c.2340C>T (p.Val780=) c.2358C>T (p.Val786=) n.333C>T c.1821C>T (p.Val607=) c.2238C>T (p.Val746=) n.2391C>T n.2392C>T n.3635C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.34240712G>C | CA489413433 | SLC12A6 | c.2385C>G (p.Val795=) c.2232C>G (p.Val744=) c.2208C>G (p.Val736=) c.2340C>G (p.Val780=) c.2358C>G (p.Val786=) n.333C>G c.1821C>G (p.Val607=) c.2238C>G (p.Val746=) n.2391C>G n.2392C>G n.3635C>G | |
| 15 | g.34240712G>T | CA489413431 | SLC12A6 | c.2385C>A (p.Val795=) c.2232C>A (p.Val744=) c.2208C>A (p.Val736=) c.2340C>A (p.Val780=) c.2358C>A (p.Val786=) n.333C>A c.1821C>A (p.Val607=) c.2238C>A (p.Val746=) n.2391C>A n.2392C>A n.3635C>A | |
| 15 | g.34240712_34240714del | CA919528422 | SLC12A6 | c.2383_2385del (p.Val795del) c.2230_2232del (p.Val744del) c.2206_2208del (p.Val736del) c.2338_2340del (p.Val780del) c.2356_2358del (p.Val786del) n.331_333del c.1819_1821del (p.Val607del) c.2236_2238del (p.Val746del) n.2389_2391del n.2390_2392del n.3633_3635del | dbSNP |
| 15 | g.34240713A>C | CA391619654 | SLC12A6 | c.2384T>G (p.Val795Gly) c.2231T>G (p.Val744Gly) c.2207T>G (p.Val736Gly) c.2339T>G (p.Val780Gly) c.2357T>G (p.Val786Gly) n.332T>G c.1820T>G (p.Val607Gly) c.2237T>G (p.Val746Gly) n.2390T>G n.2391T>G n.3634T>G | |
| 15 | g.34240713A>G | CA391619655 | SLC12A6 | c.2384T>C (p.Val795Ala) c.2231T>C (p.Val744Ala) c.2207T>C (p.Val736Ala) c.2339T>C (p.Val780Ala) c.2357T>C (p.Val786Ala) n.332T>C c.1820T>C (p.Val607Ala) c.2237T>C (p.Val746Ala) n.2390T>C n.2391T>C n.3634T>C | |
| 15 | g.34240713A>T | CA391619656 | SLC12A6 | c.2384T>A (p.Val795Asp) c.2231T>A (p.Val744Asp) c.2207T>A (p.Val736Asp) c.2339T>A (p.Val780Asp) c.2357T>A (p.Val786Asp) n.332T>A c.1820T>A (p.Val607Asp) c.2237T>A (p.Val746Asp) n.2390T>A n.2391T>A n.3634T>A | |
| 15 | g.34240714C>A | CA391619657 | SLC12A6 | c.2383G>T (p.Val795Phe) c.2230G>T (p.Val744Phe) c.2206G>T (p.Val736Phe) c.2338G>T (p.Val780Phe) c.2356G>T (p.Val786Phe) n.331G>T c.1819G>T (p.Val607Phe) c.2236G>T (p.Val746Phe) n.2389G>T n.2390G>T n.3633G>T | |
| 15 | g.34240714C>G | CA391619658 | SLC12A6 | c.2383G>C (p.Val795Leu) c.2230G>C (p.Val744Leu) c.2206G>C (p.Val736Leu) c.2338G>C (p.Val780Leu) c.2356G>C (p.Val786Leu) n.331G>C c.1819G>C (p.Val607Leu) c.2236G>C (p.Val746Leu) n.2389G>C n.2390G>C n.3633G>C | |
| 15 | g.34240714C>T | CA391619659 | SLC12A6 | c.2383G>A (p.Val795Ile) c.2230G>A (p.Val744Ile) c.2206G>A (p.Val736Ile) c.2338G>A (p.Val780Ile) c.2356G>A (p.Val786Ile) n.331G>A c.1819G>A (p.Val607Ile) c.2236G>A (p.Val746Ile) n.2389G>A n.2390G>A n.3633G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240715A>C | CA489413440 | SLC12A6 | c.2382T>G (p.Ser794=) c.2229T>G (p.Ser743=) c.2205T>G (p.Ser735=) c.2337T>G (p.Ser779=) c.2355T>G (p.Ser785=) n.330T>G c.1818T>G (p.Ser606=) c.2235T>G (p.Ser745=) n.2388T>G n.2389T>G n.3632T>G | |
| 15 | g.34240715A>G | CA7464097 | SLC12A6 | c.2382T>C (p.Ser794=) c.2229T>C (p.Ser743=) c.2205T>C (p.Ser735=) c.2337T>C (p.Ser779=) c.2355T>C (p.Ser785=) n.330T>C c.1818T>C (p.Ser606=) c.2235T>C (p.Ser745=) n.2388T>C n.2389T>C n.3632T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240715A>T | CA489413439 | SLC12A6 | c.2382T>A (p.Ser794=) c.2229T>A (p.Ser743=) c.2205T>A (p.Ser735=) c.2337T>A (p.Ser779=) c.2355T>A (p.Ser785=) n.330T>A c.1818T>A (p.Ser606=) c.2235T>A (p.Ser745=) n.2388T>A n.2389T>A n.3632T>A | |
| 15 | g.34240716G>A | CA391619660 | SLC12A6 | c.2381C>T (p.Ser794Phe) c.2228C>T (p.Ser743Phe) c.2204C>T (p.Ser735Phe) c.2336C>T (p.Ser779Phe) c.2354C>T (p.Ser785Phe) n.329C>T c.1817C>T (p.Ser606Phe) c.2234C>T (p.Ser745Phe) n.2387C>T n.2388C>T n.3631C>T | |
| 15 | g.34240716G>C | CA391619661 | SLC12A6 | c.2381C>G (p.Ser794Cys) c.2228C>G (p.Ser743Cys) c.2204C>G (p.Ser735Cys) c.2336C>G (p.Ser779Cys) c.2354C>G (p.Ser785Cys) n.329C>G c.1817C>G (p.Ser606Cys) c.2234C>G (p.Ser745Cys) n.2387C>G n.2388C>G n.3631C>G | gnomAD v4 |
| 15 | g.34240716G>T | CA391619662 | SLC12A6 | c.2381C>A (p.Ser794Tyr) c.2228C>A (p.Ser743Tyr) c.2204C>A (p.Ser735Tyr) c.2336C>A (p.Ser779Tyr) c.2354C>A (p.Ser785Tyr) n.329C>A c.1817C>A (p.Ser606Tyr) c.2234C>A (p.Ser745Tyr) n.2387C>A n.2388C>A n.3631C>A | |
| 15 | g.34240717del | CA919528423 | SLC12A6 | c.2380del (p.Ser794LeufsTer8) c.2227del (p.Ser743LeufsTer8) c.2203del (p.Ser735LeufsTer8) c.2335del (p.Ser779LeufsTer8) c.2353del (p.Ser785LeufsTer8) n.328del c.1816del (p.Ser606LeufsTer8) c.2233del (p.Ser745LeufsTer8) n.2386del n.2387del n.3630del | dbSNP |
| 15 | g.34240717A>C | CA391619664 | SLC12A6 | c.2380T>G (p.Ser794Ala) c.2227T>G (p.Ser743Ala) c.2203T>G (p.Ser735Ala) c.2335T>G (p.Ser779Ala) c.2353T>G (p.Ser785Ala) n.328T>G c.1816T>G (p.Ser606Ala) c.2233T>G (p.Ser745Ala) n.2386T>G n.2387T>G n.3630T>G | ClinVar gnomAD v4 |
| 15 | g.34240717A>G | CA391619665 | SLC12A6 | c.2380T>C (p.Ser794Pro) c.2227T>C (p.Ser743Pro) c.2203T>C (p.Ser735Pro) c.2335T>C (p.Ser779Pro) c.2353T>C (p.Ser785Pro) n.328T>C c.1816T>C (p.Ser606Pro) c.2233T>C (p.Ser745Pro) n.2386T>C n.2387T>C n.3630T>C | gnomAD v4 |
| 15 | g.34240717A>T | CA391619663 | SLC12A6 | c.2380T>A (p.Ser794Thr) c.2227T>A (p.Ser743Thr) c.2203T>A (p.Ser735Thr) c.2335T>A (p.Ser779Thr) c.2353T>A (p.Ser785Thr) n.328T>A c.1816T>A (p.Ser606Thr) c.2233T>A (p.Ser745Thr) n.2386T>A n.2387T>A n.3630T>A | |
| 15 | g.34240718G>A | CA489413449 | SLC12A6 | c.2379C>T (p.Gly793=) c.2226C>T (p.Gly742=) c.2202C>T (p.Gly734=) c.2334C>T (p.Gly778=) c.2352C>T (p.Gly784=) n.327C>T c.1815C>T (p.Gly605=) c.2232C>T (p.Gly744=) n.2385C>T n.2386C>T n.3629C>T | ClinVar gnomAD v4 |
| 15 | g.34240718G>C | CA489413447 | SLC12A6 | c.2379C>G (p.Gly793=) c.2226C>G (p.Gly742=) c.2202C>G (p.Gly734=) c.2334C>G (p.Gly778=) c.2352C>G (p.Gly784=) n.327C>G c.1815C>G (p.Gly605=) c.2232C>G (p.Gly744=) n.2385C>G n.2386C>G n.3629C>G | |
| 15 | g.34240718G>T | CA489413451 | SLC12A6 | c.2379C>A (p.Gly793=) c.2226C>A (p.Gly742=) c.2202C>A (p.Gly734=) c.2334C>A (p.Gly778=) c.2352C>A (p.Gly784=) n.327C>A c.1815C>A (p.Gly605=) c.2232C>A (p.Gly744=) n.2385C>A n.2386C>A n.3629C>A | |
| 15 | g.34240719C>A | CA391619666 | SLC12A6 | c.2378G>T (p.Gly793Val) c.2225G>T (p.Gly742Val) c.2201G>T (p.Gly734Val) c.2333G>T (p.Gly778Val) c.2351G>T (p.Gly784Val) n.326G>T c.1814G>T (p.Gly605Val) c.2231G>T (p.Gly744Val) n.2384G>T n.2385G>T n.3628G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34240719C>G | CA391619667 | SLC12A6 | c.2378G>C (p.Gly793Ala) c.2225G>C (p.Gly742Ala) c.2201G>C (p.Gly734Ala) c.2333G>C (p.Gly778Ala) c.2351G>C (p.Gly784Ala) n.326G>C c.1814G>C (p.Gly605Ala) c.2231G>C (p.Gly744Ala) n.2384G>C n.2385G>C n.3628G>C | |
| 15 | g.34240719C>T | CA391619668 | SLC12A6 | c.2378G>A (p.Gly793Asp) c.2225G>A (p.Gly742Asp) c.2201G>A (p.Gly734Asp) c.2333G>A (p.Gly778Asp) c.2351G>A (p.Gly784Asp) n.326G>A c.1814G>A (p.Gly605Asp) c.2231G>A (p.Gly744Asp) n.2384G>A n.2385G>A n.3628G>A | gnomAD v4 |
| 15 | g.34240720C>A | CA268662427 | SLC12A6 | c.2377G>T (p.Gly793Cys) c.2224G>T (p.Gly742Cys) c.2200G>T (p.Gly734Cys) c.2332G>T (p.Gly778Cys) c.2350G>T (p.Gly784Cys) n.325G>T c.1813G>T (p.Gly605Cys) c.2230G>T (p.Gly744Cys) n.2383G>T n.2384G>T n.3627G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240720C>G | CA391619669 | SLC12A6 | c.2377G>C (p.Gly793Arg) c.2224G>C (p.Gly742Arg) c.2200G>C (p.Gly734Arg) c.2332G>C (p.Gly778Arg) c.2350G>C (p.Gly784Arg) n.325G>C c.1813G>C (p.Gly605Arg) c.2230G>C (p.Gly744Arg) n.2383G>C n.2384G>C n.3627G>C | |
| 15 | g.34240720C>T | CA391619670 | SLC12A6 | c.2377G>A (p.Gly793Ser) c.2224G>A (p.Gly742Ser) c.2200G>A (p.Gly734Ser) c.2332G>A (p.Gly778Ser) c.2350G>A (p.Gly784Ser) n.325G>A c.1813G>A (p.Gly605Ser) c.2230G>A (p.Gly744Ser) n.2383G>A n.2384G>A n.3627G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240721C>A | CA489413458 | SLC12A6 | c.2376G>T (p.Val792=) c.2223G>T (p.Val741=) c.2199G>T (p.Val733=) c.2331G>T (p.Val777=) c.2349G>T (p.Val783=) n.324G>T c.1812G>T (p.Val604=) c.2229G>T (p.Val743=) n.2382G>T n.2383G>T n.3626G>T | |
| 15 | g.34240721C>G | CA489413461 | SLC12A6 | c.2376G>C (p.Val792=) c.2223G>C (p.Val741=) c.2199G>C (p.Val733=) c.2331G>C (p.Val777=) c.2349G>C (p.Val783=) n.324G>C c.1812G>C (p.Val604=) c.2229G>C (p.Val743=) n.2382G>C n.2383G>C n.3626G>C | |
| 15 | g.34240721C>T | CA489413462 | SLC12A6 | c.2376G>A (p.Val792=) c.2223G>A (p.Val741=) c.2199G>A (p.Val733=) c.2331G>A (p.Val777=) c.2349G>A (p.Val783=) n.324G>A c.1812G>A (p.Val604=) c.2229G>A (p.Val743=) n.2382G>A n.2383G>A n.3626G>A | |
| 15 | g.34240722A>C | CA391619671 | SLC12A6 | c.2375T>G (p.Val792Gly) c.2222T>G (p.Val741Gly) c.2198T>G (p.Val733Gly) c.2330T>G (p.Val777Gly) c.2348T>G (p.Val783Gly) n.323T>G c.1811T>G (p.Val604Gly) c.2228T>G (p.Val743Gly) n.2381T>G n.2382T>G n.3625T>G | |
| 15 | g.34240722A>G | CA391619672 | SLC12A6 | c.2375T>C (p.Val792Ala) c.2222T>C (p.Val741Ala) c.2198T>C (p.Val733Ala) c.2330T>C (p.Val777Ala) c.2348T>C (p.Val783Ala) n.323T>C c.1811T>C (p.Val604Ala) c.2228T>C (p.Val743Ala) n.2381T>C n.2382T>C n.3625T>C | |
| 15 | g.34240722A>T | CA391619673 | SLC12A6 | c.2375T>A (p.Val792Glu) c.2222T>A (p.Val741Glu) c.2198T>A (p.Val733Glu) c.2330T>A (p.Val777Glu) c.2348T>A (p.Val783Glu) n.323T>A c.1811T>A (p.Val604Glu) c.2228T>A (p.Val743Glu) n.2381T>A n.2382T>A n.3625T>A | |
| 15 | g.34240723C>A | CA391619674 | SLC12A6 | c.2374G>T (p.Val792Leu) c.2221G>T (p.Val741Leu) c.2197G>T (p.Val733Leu) c.2329G>T (p.Val777Leu) c.2347G>T (p.Val783Leu) n.322G>T c.1810G>T (p.Val604Leu) c.2227G>T (p.Val743Leu) n.2380G>T n.2381G>T n.3624G>T | |
| 15 | g.34240723C>G | CA391619675 | SLC12A6 | c.2374G>C (p.Val792Leu) c.2221G>C (p.Val741Leu) c.2197G>C (p.Val733Leu) c.2329G>C (p.Val777Leu) c.2347G>C (p.Val783Leu) n.322G>C c.1810G>C (p.Val604Leu) c.2227G>C (p.Val743Leu) n.2380G>C n.2381G>C n.3624G>C | |
| 15 | g.34240723C>T | CA391619676 | SLC12A6 | c.2374G>A (p.Val792Met) c.2221G>A (p.Val741Met) c.2197G>A (p.Val733Met) c.2329G>A (p.Val777Met) c.2347G>A (p.Val783Met) n.322G>A c.1810G>A (p.Val604Met) c.2227G>A (p.Val743Met) n.2380G>A n.2381G>A n.3624G>A | |
| 15 | g.34240724A>C | CA391619677 | SLC12A6 | c.2373T>G (p.Ile791Met) c.2220T>G (p.Ile740Met) c.2196T>G (p.Ile732Met) c.2328T>G (p.Ile776Met) c.2346T>G (p.Ile782Met) n.321T>G c.1809T>G (p.Ile603Met) c.2226T>G (p.Ile742Met) n.2379T>G n.2380T>G n.3623T>G | |
| 15 | g.34240724A>G | CA489413470 | SLC12A6 | c.2373T>C (p.Ile791=) c.2220T>C (p.Ile740=) c.2196T>C (p.Ile732=) c.2328T>C (p.Ile776=) c.2346T>C (p.Ile782=) n.321T>C c.1809T>C (p.Ile603=) c.2226T>C (p.Ile742=) n.2379T>C n.2380T>C n.3623T>C | |
| 15 | g.34240724A>T | CA489413468 | SLC12A6 | c.2373T>A (p.Ile791=) c.2220T>A (p.Ile740=) c.2196T>A (p.Ile732=) c.2328T>A (p.Ile776=) c.2346T>A (p.Ile782=) n.321T>A c.1809T>A (p.Ile603=) c.2226T>A (p.Ile742=) n.2379T>A n.2380T>A n.3623T>A | |
| 15 | g.34240725A>C | CA391619679 | SLC12A6 | c.2372T>G (p.Ile791Ser) c.2219T>G (p.Ile740Ser) c.2195T>G (p.Ile732Ser) c.2327T>G (p.Ile776Ser) c.2345T>G (p.Ile782Ser) n.320T>G c.1808T>G (p.Ile603Ser) c.2225T>G (p.Ile742Ser) n.2378T>G n.2379T>G n.3622T>G | |
| 15 | g.34240725A>G | CA7464098 | SLC12A6 | c.2372T>C (p.Ile791Thr) c.2219T>C (p.Ile740Thr) c.2195T>C (p.Ile732Thr) c.2327T>C (p.Ile776Thr) c.2345T>C (p.Ile782Thr) n.320T>C c.1808T>C (p.Ile603Thr) c.2225T>C (p.Ile742Thr) n.2378T>C n.2379T>C n.3622T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34240725A>T | CA391619678 | SLC12A6 | c.2372T>A (p.Ile791Asn) c.2219T>A (p.Ile740Asn) c.2195T>A (p.Ile732Asn) c.2327T>A (p.Ile776Asn) c.2345T>A (p.Ile782Asn) n.320T>A c.1808T>A (p.Ile603Asn) c.2225T>A (p.Ile742Asn) n.2378T>A n.2379T>A n.3622T>A | |
| 15 | g.34240726T>A | CA391619680 | SLC12A6 | c.2371A>T (p.Ile791Phe) c.2218A>T (p.Ile740Phe) c.2194A>T (p.Ile732Phe) c.2326A>T (p.Ile776Phe) c.2344A>T (p.Ile782Phe) n.319A>T c.1807A>T (p.Ile603Phe) c.2224A>T (p.Ile742Phe) n.2377A>T n.2378A>T n.3621A>T | |
| 15 | g.34240726T>C | CA391619681 | SLC12A6 | c.2371A>G (p.Ile791Val) c.2218A>G (p.Ile740Val) c.2194A>G (p.Ile732Val) c.2326A>G (p.Ile776Val) c.2344A>G (p.Ile782Val) n.319A>G c.1807A>G (p.Ile603Val) c.2224A>G (p.Ile742Val) n.2377A>G n.2378A>G n.3621A>G | |
| 15 | g.34240726T>G | CA391619682 | SLC12A6 | c.2371A>C (p.Ile791Leu) c.2218A>C (p.Ile740Leu) c.2194A>C (p.Ile732Leu) c.2326A>C (p.Ile776Leu) c.2344A>C (p.Ile782Leu) n.319A>C c.1807A>C (p.Ile603Leu) c.2224A>C (p.Ile742Leu) n.2377A>C n.2378A>C n.3621A>C | dbSNP gnomAD v4 |
| 15 | g.34240727A>C | CA489413483 | SLC12A6 | c.2370T>G (p.Thr790=) c.2217T>G (p.Thr739=) c.2193T>G (p.Thr731=) c.2325T>G (p.Thr775=) c.2343T>G (p.Thr781=) n.318T>G c.1806T>G (p.Thr602=) c.2223T>G (p.Thr741=) n.2376T>G n.2377T>G n.3620T>G | |
| 15 | g.34240727A>G | CA489413479 | SLC12A6 | c.2370T>C (p.Thr790=) c.2217T>C (p.Thr739=) c.2193T>C (p.Thr731=) c.2325T>C (p.Thr775=) c.2343T>C (p.Thr781=) n.318T>C c.1806T>C (p.Thr602=) c.2223T>C (p.Thr741=) n.2376T>C n.2377T>C n.3620T>C | COSMIC COSMIC COSMIC |
| 15 | g.34240727A>T | CA489413481 | SLC12A6 | c.2370T>A (p.Thr790=) c.2217T>A (p.Thr739=) c.2193T>A (p.Thr731=) c.2325T>A (p.Thr775=) c.2343T>A (p.Thr781=) n.318T>A c.1806T>A (p.Thr602=) c.2223T>A (p.Thr741=) n.2376T>A n.2377T>A n.3620T>A | |
| 15 | g.34240727dup | CA2739278216 | SLC12A6 | c.2370dup (p.Ile791TyrfsTer16) c.2217dup (p.Ile740TyrfsTer16) c.2193dup (p.Ile732TyrfsTer16) c.2325dup (p.Ile776TyrfsTer16) c.2343dup (p.Ile782TyrfsTer16) n.318dup c.1806dup (p.Ile603TyrfsTer16) c.2223dup (p.Ile742TyrfsTer16) n.2376dup n.2377dup n.3620dup | ClinVar |
| 15 | g.34240728G>A | CA391619683 | SLC12A6 | c.2369C>T (p.Thr790Ile) c.2216C>T (p.Thr739Ile) c.2192C>T (p.Thr731Ile) c.2324C>T (p.Thr775Ile) c.2342C>T (p.Thr781Ile) n.317C>T c.1805C>T (p.Thr602Ile) c.2222C>T (p.Thr741Ile) n.2375C>T n.2376C>T n.3619C>T | gnomAD v4 |
| 15 | g.34240728G>C | CA391619684 | SLC12A6 | c.2369C>G (p.Thr790Ser) c.2216C>G (p.Thr739Ser) c.2192C>G (p.Thr731Ser) c.2324C>G (p.Thr775Ser) c.2342C>G (p.Thr781Ser) n.317C>G c.1805C>G (p.Thr602Ser) c.2222C>G (p.Thr741Ser) n.2375C>G n.2376C>G n.3619C>G | |
| 15 | g.34240728G>T | CA391619685 | SLC12A6 | c.2369C>A (p.Thr790Asn) c.2216C>A (p.Thr739Asn) c.2192C>A (p.Thr731Asn) c.2324C>A (p.Thr775Asn) c.2342C>A (p.Thr781Asn) n.317C>A c.1805C>A (p.Thr602Asn) c.2222C>A (p.Thr741Asn) n.2375C>A n.2376C>A n.3619C>A | gnomAD v4 |
| 15 | g.34240729T>A | CA391619686 | SLC12A6 | c.2368A>T (p.Thr790Ser) c.2215A>T (p.Thr739Ser) c.2191A>T (p.Thr731Ser) c.2323A>T (p.Thr775Ser) c.2341A>T (p.Thr781Ser) n.316A>T c.1804A>T (p.Thr602Ser) c.2221A>T (p.Thr741Ser) n.2374A>T n.2375A>T n.3618A>T | |
| 15 | g.34240729T>C | CA391619687 | SLC12A6 | c.2368A>G (p.Thr790Ala) c.2215A>G (p.Thr739Ala) c.2191A>G (p.Thr731Ala) c.2323A>G (p.Thr775Ala) c.2341A>G (p.Thr781Ala) n.316A>G c.1804A>G (p.Thr602Ala) c.2221A>G (p.Thr741Ala) n.2374A>G n.2375A>G n.3618A>G | |
| 15 | g.34240729T>G | CA391619688 | SLC12A6 | c.2368A>C (p.Thr790Pro) c.2215A>C (p.Thr739Pro) c.2191A>C (p.Thr731Pro) c.2323A>C (p.Thr775Pro) c.2341A>C (p.Thr781Pro) n.316A>C c.1804A>C (p.Thr602Pro) c.2221A>C (p.Thr741Pro) n.2374A>C n.2375A>C n.3618A>C | |
| 15 | g.34240730G>A | CA489413488 | SLC12A6 | c.2367C>T (p.Leu789=) c.2214C>T (p.Leu738=) c.2190C>T (p.Leu730=) c.2322C>T (p.Leu774=) c.2340C>T (p.Leu780=) n.315C>T c.1803C>T (p.Leu601=) c.2220C>T (p.Leu740=) n.2373C>T n.2374C>T n.3617C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34240730G>C | CA489413487 | SLC12A6 | c.2367C>G (p.Leu789=) c.2214C>G (p.Leu738=) c.2190C>G (p.Leu730=) c.2322C>G (p.Leu774=) c.2340C>G (p.Leu780=) n.315C>G c.1803C>G (p.Leu601=) c.2220C>G (p.Leu740=) n.2373C>G n.2374C>G n.3617C>G | |
| 15 | g.34240730G>T | CA489413491 | SLC12A6 | c.2367C>A (p.Leu789=) c.2214C>A (p.Leu738=) c.2190C>A (p.Leu730=) c.2322C>A (p.Leu774=) c.2340C>A (p.Leu780=) n.315C>A c.1803C>A (p.Leu601=) c.2220C>A (p.Leu740=) n.2373C>A n.2374C>A n.3617C>A | |
| 15 | g.34240731A>C | CA391619689 | SLC12A6 | c.2366T>G (p.Leu789Arg) c.2213T>G (p.Leu738Arg) c.2189T>G (p.Leu730Arg) c.2321T>G (p.Leu774Arg) c.2339T>G (p.Leu780Arg) n.314T>G c.1802T>G (p.Leu601Arg) c.2219T>G (p.Leu740Arg) n.2372T>G n.2373T>G n.3616T>G | |
| 15 | g.34240731A>G | CA391619690 | SLC12A6 | c.2366T>C (p.Leu789Pro) c.2213T>C (p.Leu738Pro) c.2189T>C (p.Leu730Pro) c.2321T>C (p.Leu774Pro) c.2339T>C (p.Leu780Pro) n.314T>C c.1802T>C (p.Leu601Pro) c.2219T>C (p.Leu740Pro) n.2372T>C n.2373T>C n.3616T>C | |
| 15 | g.34240731A>T | CA391619691 | SLC12A6 | c.2366T>A (p.Leu789His) c.2213T>A (p.Leu738His) c.2189T>A (p.Leu730His) c.2321T>A (p.Leu774His) c.2339T>A (p.Leu780His) n.314T>A c.1802T>A (p.Leu601His) c.2219T>A (p.Leu740His) n.2372T>A n.2373T>A n.3616T>A | |
| 15 | g.34240732G>A | CA391619694 | SLC12A6 | c.2365C>T (p.Leu789Phe) c.2212C>T (p.Leu738Phe) c.2188C>T (p.Leu730Phe) c.2320C>T (p.Leu774Phe) c.2338C>T (p.Leu780Phe) n.313C>T c.1801C>T (p.Leu601Phe) c.2218C>T (p.Leu740Phe) n.2371C>T n.2372C>T n.3615C>T | |
| 15 | g.34240732G>C | CA391619693 | SLC12A6 | c.2365C>G (p.Leu789Val) c.2212C>G (p.Leu738Val) c.2188C>G (p.Leu730Val) c.2320C>G (p.Leu774Val) c.2338C>G (p.Leu780Val) n.313C>G c.1801C>G (p.Leu601Val) c.2218C>G (p.Leu740Val) n.2371C>G n.2372C>G n.3615C>G | |
| 15 | g.34240732G>T | CA391619692 | SLC12A6 | c.2365C>A (p.Leu789Ile) c.2212C>A (p.Leu738Ile) c.2188C>A (p.Leu730Ile) c.2320C>A (p.Leu774Ile) c.2338C>A (p.Leu780Ile) n.313C>A c.1801C>A (p.Leu601Ile) c.2218C>A (p.Leu740Ile) n.2371C>A n.2372C>A n.3615C>A | |
| 15 | g.34240733A>C | CA489413498 | SLC12A6 | c.2364T>G (p.Gly788=) c.2211T>G (p.Gly737=) c.2187T>G (p.Gly729=) c.2319T>G (p.Gly773=) c.2337T>G (p.Gly779=) n.312T>G c.1800T>G (p.Gly600=) c.2217T>G (p.Gly739=) n.2370T>G n.2371T>G n.3614T>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240733A>G | CA489413503 | SLC12A6 | c.2364T>C (p.Gly788=) c.2211T>C (p.Gly737=) c.2187T>C (p.Gly729=) c.2319T>C (p.Gly773=) c.2337T>C (p.Gly779=) n.312T>C c.1800T>C (p.Gly600=) c.2217T>C (p.Gly739=) n.2370T>C n.2371T>C n.3614T>C | |
| 15 | g.34240733A>T | CA489413506 | SLC12A6 | c.2364T>A (p.Gly788=) c.2211T>A (p.Gly737=) c.2187T>A (p.Gly729=) c.2319T>A (p.Gly773=) c.2337T>A (p.Gly779=) n.312T>A c.1800T>A (p.Gly600=) c.2217T>A (p.Gly739=) n.2370T>A n.2371T>A n.3614T>A | |
| 15 | g.34240734C>A | CA391619695 | SLC12A6 | c.2363G>T (p.Gly788Val) c.2210G>T (p.Gly737Val) c.2186G>T (p.Gly729Val) c.2318G>T (p.Gly773Val) c.2336G>T (p.Gly779Val) n.311G>T c.1799G>T (p.Gly600Val) c.2216G>T (p.Gly739Val) n.2369G>T n.2370G>T n.3613G>T | |
| 15 | g.34240734C>G | CA391619697 | SLC12A6 | c.2363G>C (p.Gly788Ala) c.2210G>C (p.Gly737Ala) c.2186G>C (p.Gly729Ala) c.2318G>C (p.Gly773Ala) c.2336G>C (p.Gly779Ala) n.311G>C c.1799G>C (p.Gly600Ala) c.2216G>C (p.Gly739Ala) n.2369G>C n.2370G>C n.3613G>C | |
| 15 | g.34240734C>T | CA391619696 | SLC12A6 | c.2363G>A (p.Gly788Asp) c.2210G>A (p.Gly737Asp) c.2186G>A (p.Gly729Asp) c.2318G>A (p.Gly773Asp) c.2336G>A (p.Gly779Asp) n.311G>A c.1799G>A (p.Gly600Asp) c.2216G>A (p.Gly739Asp) n.2369G>A n.2370G>A n.3613G>A | |
| 15 | g.34240735C>A | CA391619698 | SLC12A6 | c.2362G>T (p.Gly788Cys) c.2209G>T (p.Gly737Cys) c.2185G>T (p.Gly729Cys) c.2317G>T (p.Gly773Cys) c.2335G>T (p.Gly779Cys) n.310G>T c.1798G>T (p.Gly600Cys) c.2215G>T (p.Gly739Cys) n.2368G>T n.2369G>T n.3612G>T | |
| 15 | g.34240735C>G | CA391619700 | SLC12A6 | c.2362G>C (p.Gly788Arg) c.2209G>C (p.Gly737Arg) c.2185G>C (p.Gly729Arg) c.2317G>C (p.Gly773Arg) c.2335G>C (p.Gly779Arg) n.310G>C c.1798G>C (p.Gly600Arg) c.2215G>C (p.Gly739Arg) n.2368G>C n.2369G>C n.3612G>C | |
| 15 | g.34240735C>T | CA391619699 | SLC12A6 | c.2362G>A (p.Gly788Ser) c.2209G>A (p.Gly737Ser) c.2185G>A (p.Gly729Ser) c.2317G>A (p.Gly773Ser) c.2335G>A (p.Gly779Ser) n.310G>A c.1798G>A (p.Gly600Ser) c.2215G>A (p.Gly739Ser) n.2368G>A n.2369G>A n.3612G>A | gnomAD v4 |
| 15 | g.34240736T>A | CA391619701 | SLC12A6 | c.2361A>T (p.Lys787Asn) c.2208A>T (p.Lys736Asn) c.2184A>T (p.Lys728Asn) c.2316A>T (p.Lys772Asn) c.2334A>T (p.Lys778Asn) n.309A>T c.1797A>T (p.Lys599Asn) c.2214A>T (p.Lys738Asn) n.2367A>T n.2368A>T n.3611A>T | |
| 15 | g.34240736T>C | CA489413521 | SLC12A6 | c.2361A>G (p.Lys787=) c.2208A>G (p.Lys736=) c.2184A>G (p.Lys728=) c.2316A>G (p.Lys772=) c.2334A>G (p.Lys778=) n.309A>G c.1797A>G (p.Lys599=) c.2214A>G (p.Lys738=) n.2367A>G n.2368A>G n.3611A>G | |
| 15 | g.34240736T>G | CA391619702 | SLC12A6 | c.2361A>C (p.Lys787Asn) c.2208A>C (p.Lys736Asn) c.2184A>C (p.Lys728Asn) c.2316A>C (p.Lys772Asn) c.2334A>C (p.Lys778Asn) n.309A>C c.1797A>C (p.Lys599Asn) c.2214A>C (p.Lys738Asn) n.2367A>C n.2368A>C n.3611A>C | |
| 15 | g.34240737T>A | CA391619703 | SLC12A6 | c.2360A>T (p.Lys787Ile) c.2207A>T (p.Lys736Ile) c.2183A>T (p.Lys728Ile) c.2315A>T (p.Lys772Ile) c.2333A>T (p.Lys778Ile) n.308A>T c.1796A>T (p.Lys599Ile) c.2213A>T (p.Lys738Ile) n.2366A>T n.2367A>T n.3610A>T | |
| 15 | g.34240737T>C | CA391619704 | SLC12A6 | c.2360A>G (p.Lys787Arg) c.2207A>G (p.Lys736Arg) c.2183A>G (p.Lys728Arg) c.2315A>G (p.Lys772Arg) c.2333A>G (p.Lys778Arg) n.308A>G c.1796A>G (p.Lys599Arg) c.2213A>G (p.Lys738Arg) n.2366A>G n.2367A>G n.3610A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.34240737T>G | CA391619705 | SLC12A6 | c.2360A>C (p.Lys787Thr) c.2207A>C (p.Lys736Thr) c.2183A>C (p.Lys728Thr) c.2315A>C (p.Lys772Thr) c.2333A>C (p.Lys778Thr) n.308A>C c.1796A>C (p.Lys599Thr) c.2213A>C (p.Lys738Thr) n.2366A>C n.2367A>C n.3610A>C | |
| 15 | g.34240738T>A | CA391619706 | SLC12A6 | c.2359A>T (p.Lys787Ter) c.2206A>T (p.Lys736Ter) c.2182A>T (p.Lys728Ter) c.2314A>T (p.Lys772Ter) c.2332A>T (p.Lys778Ter) n.307A>T c.1795A>T (p.Lys599Ter) c.2212A>T (p.Lys738Ter) n.2365A>T n.2366A>T n.3609A>T | |
| 15 | g.34240738T>C | CA391619707 | SLC12A6 | c.2359A>G (p.Lys787Glu) c.2206A>G (p.Lys736Glu) c.2182A>G (p.Lys728Glu) c.2314A>G (p.Lys772Glu) c.2332A>G (p.Lys778Glu) n.307A>G c.1795A>G (p.Lys599Glu) c.2212A>G (p.Lys738Glu) n.2365A>G n.2366A>G n.3609A>G | |
| 15 | g.34240738T>G | CA268662450 | SLC12A6 | c.2359A>C (p.Lys787Gln) c.2206A>C (p.Lys736Gln) c.2182A>C (p.Lys728Gln) c.2314A>C (p.Lys772Gln) c.2332A>C (p.Lys778Gln) n.307A>C c.1795A>C (p.Lys599Gln) c.2212A>C (p.Lys738Gln) n.2365A>C n.2366A>C n.3609A>C | dbSNP |
| 15 | g.34240739T>A | CA489413536 | SLC12A6 | c.2358A>T (p.Gly786=) c.2205A>T (p.Gly735=) c.2181A>T (p.Gly727=) c.2313A>T (p.Gly771=) c.2331A>T (p.Gly777=) n.306A>T c.1794A>T (p.Gly598=) c.2211A>T (p.Gly737=) n.2364A>T n.2365A>T n.3608A>T | |
| 15 | g.34240739T>C | CA489413532 | SLC12A6 | c.2358A>G (p.Gly786=) c.2205A>G (p.Gly735=) c.2181A>G (p.Gly727=) c.2313A>G (p.Gly771=) c.2331A>G (p.Gly777=) n.306A>G c.1794A>G (p.Gly598=) c.2211A>G (p.Gly737=) n.2364A>G n.2365A>G n.3608A>G | |
| 15 | g.34240739T>G | CA489413530 | SLC12A6 | c.2358A>C (p.Gly786=) c.2205A>C (p.Gly735=) c.2181A>C (p.Gly727=) c.2313A>C (p.Gly771=) c.2331A>C (p.Gly777=) n.306A>C c.1794A>C (p.Gly598=) c.2211A>C (p.Gly737=) n.2364A>C n.2365A>C n.3608A>C | |
| 15 | g.34240740C>A | CA391619708 | SLC12A6 | c.2357G>T (p.Gly786Val) c.2204G>T (p.Gly735Val) c.2180G>T (p.Gly727Val) c.2312G>T (p.Gly771Val) c.2330G>T (p.Gly777Val) n.305G>T c.1793G>T (p.Gly598Val) c.2210G>T (p.Gly737Val) n.2363G>T n.2364G>T n.3607G>T | |
| 15 | g.34240740C>G | CA391619709 | SLC12A6 | c.2357G>C (p.Gly786Ala) c.2204G>C (p.Gly735Ala) c.2180G>C (p.Gly727Ala) c.2312G>C (p.Gly771Ala) c.2330G>C (p.Gly777Ala) n.305G>C c.1793G>C (p.Gly598Ala) c.2210G>C (p.Gly737Ala) n.2363G>C n.2364G>C n.3607G>C | |
| 15 | g.34240740C>T | CA391619710 | SLC12A6 | c.2357G>A (p.Gly786Glu) c.2204G>A (p.Gly735Glu) c.2180G>A (p.Gly727Glu) c.2312G>A (p.Gly771Glu) c.2330G>A (p.Gly777Glu) n.305G>A c.1793G>A (p.Gly598Glu) c.2210G>A (p.Gly737Glu) n.2363G>A n.2364G>A n.3607G>A | gnomAD v4 |
| 15 | g.34240741C>A | CA391619712 | SLC12A6 | c.2356G>T (p.Gly786Ter) c.2203G>T (p.Gly735Ter) c.2179G>T (p.Gly727Ter) c.2311G>T (p.Gly771Ter) c.2329G>T (p.Gly777Ter) n.304G>T c.1792G>T (p.Gly598Ter) c.2209G>T (p.Gly737Ter) n.2362G>T n.2363G>T n.3606G>T | |
| 15 | g.34240741C>G | CA391619711 | SLC12A6 | c.2356G>C (p.Gly786Arg) c.2203G>C (p.Gly735Arg) c.2179G>C (p.Gly727Arg) c.2311G>C (p.Gly771Arg) c.2329G>C (p.Gly777Arg) n.304G>C c.1792G>C (p.Gly598Arg) c.2209G>C (p.Gly737Arg) n.2362G>C n.2363G>C n.3606G>C | |
| 15 | g.34240741C>T | CA268662451 | SLC12A6 | c.2356G>A (p.Gly786Arg) c.2203G>A (p.Gly735Arg) c.2179G>A (p.Gly727Arg) c.2311G>A (p.Gly771Arg) c.2329G>A (p.Gly777Arg) n.304G>A c.1792G>A (p.Gly598Arg) c.2209G>A (p.Gly737Arg) n.2362G>A n.2363G>A n.3606G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240742T>A | CA489413547 | SLC12A6 | c.2355A>T (p.Ala785=) c.2202A>T (p.Ala734=) c.2178A>T (p.Ala726=) c.2310A>T (p.Ala770=) c.2328A>T (p.Ala776=) n.303A>T c.1791A>T (p.Ala597=) c.2208A>T (p.Ala736=) n.2361A>T n.2362A>T n.3605A>T | |
| 15 | g.34240742T>C | CA489413545 | SLC12A6 | c.2355A>G (p.Ala785=) c.2202A>G (p.Ala734=) c.2178A>G (p.Ala726=) c.2310A>G (p.Ala770=) c.2328A>G (p.Ala776=) n.303A>G c.1791A>G (p.Ala597=) c.2208A>G (p.Ala736=) n.2361A>G n.2362A>G n.3605A>G | |
| 15 | g.34240742T>G | CA489413548 | SLC12A6 | c.2355A>C (p.Ala785=) c.2202A>C (p.Ala734=) c.2178A>C (p.Ala726=) c.2310A>C (p.Ala770=) c.2328A>C (p.Ala776=) n.303A>C c.1791A>C (p.Ala597=) c.2208A>C (p.Ala736=) n.2361A>C n.2362A>C n.3605A>C | |
| 15 | g.34240743G>A | CA391619713 | SLC12A6 | c.2354C>T (p.Ala785Val) c.2201C>T (p.Ala734Val) c.2177C>T (p.Ala726Val) c.2309C>T (p.Ala770Val) c.2327C>T (p.Ala776Val) n.302C>T c.1790C>T (p.Ala597Val) c.2207C>T (p.Ala736Val) n.2360C>T n.2361C>T n.3604C>T | |
| 15 | g.34240743G>C | CA391619714 | SLC12A6 | c.2354C>G (p.Ala785Gly) c.2201C>G (p.Ala734Gly) c.2177C>G (p.Ala726Gly) c.2309C>G (p.Ala770Gly) c.2327C>G (p.Ala776Gly) n.302C>G c.1790C>G (p.Ala597Gly) c.2207C>G (p.Ala736Gly) n.2360C>G n.2361C>G n.3604C>G | |
| 15 | g.34240743G>T | CA391619715 | SLC12A6 | c.2354C>A (p.Ala785Glu) c.2201C>A (p.Ala734Glu) c.2177C>A (p.Ala726Glu) c.2309C>A (p.Ala770Glu) c.2327C>A (p.Ala776Glu) n.302C>A c.1790C>A (p.Ala597Glu) c.2207C>A (p.Ala736Glu) n.2360C>A n.2361C>A n.3604C>A | |
| 15 | g.34240744C>A | CA391619716 | SLC12A6 | c.2353G>T (p.Ala785Ser) c.2200G>T (p.Ala734Ser) c.2176G>T (p.Ala726Ser) c.2308G>T (p.Ala770Ser) c.2326G>T (p.Ala776Ser) n.301G>T c.1789G>T (p.Ala597Ser) c.2206G>T (p.Ala736Ser) n.2359G>T n.2360G>T n.3603G>T | |
| 15 | g.34240744C>G | CA391619717 | SLC12A6 | c.2353G>C (p.Ala785Pro) c.2200G>C (p.Ala734Pro) c.2176G>C (p.Ala726Pro) c.2308G>C (p.Ala770Pro) c.2326G>C (p.Ala776Pro) n.301G>C c.1789G>C (p.Ala597Pro) c.2206G>C (p.Ala736Pro) n.2359G>C n.2360G>C n.3603G>C | |
| 15 | g.34240744C>T | CA391619718 | SLC12A6 | c.2353G>A (p.Ala785Thr) c.2200G>A (p.Ala734Thr) c.2176G>A (p.Ala726Thr) c.2308G>A (p.Ala770Thr) c.2326G>A (p.Ala776Thr) n.301G>A c.1789G>A (p.Ala597Thr) c.2206G>A (p.Ala736Thr) n.2359G>A n.2360G>A n.3603G>A | |
| 15 | g.34240745T>A | CA391619719 | SLC12A6 | c.2352A>T (p.Lys784Asn) c.2199A>T (p.Lys733Asn) c.2175A>T (p.Lys725Asn) c.2307A>T (p.Lys769Asn) c.2325A>T (p.Lys775Asn) n.300A>T c.1788A>T (p.Lys596Asn) c.2205A>T (p.Lys735Asn) n.2358A>T n.2359A>T n.3602A>T | |
| 15 | g.34240745T>C | CA489413559 | SLC12A6 | c.2352A>G (p.Lys784=) c.2199A>G (p.Lys733=) c.2175A>G (p.Lys725=) c.2307A>G (p.Lys769=) c.2325A>G (p.Lys775=) n.300A>G c.1788A>G (p.Lys596=) c.2205A>G (p.Lys735=) n.2358A>G n.2359A>G n.3602A>G | dbSNP |
| 15 | g.34240745T>G | CA391619720 | SLC12A6 | c.2352A>C (p.Lys784Asn) c.2199A>C (p.Lys733Asn) c.2175A>C (p.Lys725Asn) c.2307A>C (p.Lys769Asn) c.2325A>C (p.Lys775Asn) n.300A>C c.1788A>C (p.Lys596Asn) c.2205A>C (p.Lys735Asn) n.2358A>C n.2359A>C n.3602A>C | |
| 15 | g.34240746T>A | CA391619721 | SLC12A6 | c.2351A>T (p.Lys784Ile) c.2198A>T (p.Lys733Ile) c.2174A>T (p.Lys725Ile) c.2306A>T (p.Lys769Ile) c.2324A>T (p.Lys775Ile) n.299A>T c.1787A>T (p.Lys596Ile) c.2204A>T (p.Lys735Ile) n.2357A>T n.2358A>T n.3601A>T | |
| 15 | g.34240746T>C | CA391619722 | SLC12A6 | c.2351A>G (p.Lys784Arg) c.2198A>G (p.Lys733Arg) c.2174A>G (p.Lys725Arg) c.2306A>G (p.Lys769Arg) c.2324A>G (p.Lys775Arg) n.299A>G c.1787A>G (p.Lys596Arg) c.2204A>G (p.Lys735Arg) n.2357A>G n.2358A>G n.3601A>G | |
| 15 | g.34240746T>G | CA391619723 | SLC12A6 | c.2351A>C (p.Lys784Thr) c.2198A>C (p.Lys733Thr) c.2174A>C (p.Lys725Thr) c.2306A>C (p.Lys769Thr) c.2324A>C (p.Lys775Thr) n.299A>C c.1787A>C (p.Lys596Thr) c.2204A>C (p.Lys735Thr) n.2357A>C n.2358A>C n.3601A>C | |
| 15 | g.34240747T>A | CA391619726 | SLC12A6 | c.2350A>T (p.Lys784Ter) c.2197A>T (p.Lys733Ter) c.2173A>T (p.Lys725Ter) c.2305A>T (p.Lys769Ter) c.2323A>T (p.Lys775Ter) n.298A>T c.1786A>T (p.Lys596Ter) c.2203A>T (p.Lys735Ter) n.2356A>T n.2357A>T n.3600A>T | |
| 15 | g.34240747T>C | CA391619725 | SLC12A6 | c.2350A>G (p.Lys784Glu) c.2197A>G (p.Lys733Glu) c.2173A>G (p.Lys725Glu) c.2305A>G (p.Lys769Glu) c.2323A>G (p.Lys775Glu) n.298A>G c.1786A>G (p.Lys596Glu) c.2203A>G (p.Lys735Glu) n.2356A>G n.2357A>G n.3600A>G | |
| 15 | g.34240747T>G | CA391619724 | SLC12A6 | c.2350A>C (p.Lys784Gln) c.2197A>C (p.Lys733Gln) c.2173A>C (p.Lys725Gln) c.2305A>C (p.Lys769Gln) c.2323A>C (p.Lys775Gln) n.298A>C c.1786A>C (p.Lys596Gln) c.2203A>C (p.Lys735Gln) n.2356A>C n.2357A>C n.3600A>C | gnomAD v4 |
| 15 | g.34240748G>A | CA489413572 | SLC12A6 | c.2349C>T (p.Leu783=) c.2196C>T (p.Leu732=) c.2172C>T (p.Leu724=) c.2304C>T (p.Leu768=) c.2322C>T (p.Leu774=) n.297C>T c.1785C>T (p.Leu595=) c.2202C>T (p.Leu734=) n.2355C>T n.2356C>T n.3599C>T | |
| 15 | g.34240748G>C | CA489413574 | SLC12A6 | c.2349C>G (p.Leu783=) c.2196C>G (p.Leu732=) c.2172C>G (p.Leu724=) c.2304C>G (p.Leu768=) c.2322C>G (p.Leu774=) n.297C>G c.1785C>G (p.Leu595=) c.2202C>G (p.Leu734=) n.2355C>G n.2356C>G n.3599C>G | |
| 15 | g.34240748G>T | CA489413570 | SLC12A6 | c.2349C>A (p.Leu783=) c.2196C>A (p.Leu732=) c.2172C>A (p.Leu724=) c.2304C>A (p.Leu768=) c.2322C>A (p.Leu774=) n.297C>A c.1785C>A (p.Leu595=) c.2202C>A (p.Leu734=) n.2355C>A n.2356C>A n.3599C>A | |
| 15 | g.34240749A>C | CA391619727 | SLC12A6 | c.2348T>G (p.Leu783Arg) c.2195T>G (p.Leu732Arg) c.2171T>G (p.Leu724Arg) c.2303T>G (p.Leu768Arg) c.2321T>G (p.Leu774Arg) n.296T>G c.1784T>G (p.Leu595Arg) c.2201T>G (p.Leu734Arg) n.2354T>G n.2355T>G n.3598T>G | |
| 15 | g.34240749A>G | CA391619728 | SLC12A6 | c.2348T>C (p.Leu783Pro) c.2195T>C (p.Leu732Pro) c.2171T>C (p.Leu724Pro) c.2303T>C (p.Leu768Pro) c.2321T>C (p.Leu774Pro) n.296T>C c.1784T>C (p.Leu595Pro) c.2201T>C (p.Leu734Pro) n.2354T>C n.2355T>C n.3598T>C | |
| 15 | g.34240749A>T | CA391619729 | SLC12A6 | c.2348T>A (p.Leu783His) c.2195T>A (p.Leu732His) c.2171T>A (p.Leu724His) c.2303T>A (p.Leu768His) c.2321T>A (p.Leu774His) n.296T>A c.1784T>A (p.Leu595His) c.2201T>A (p.Leu734His) n.2354T>A n.2355T>A n.3598T>A | |
| 15 | g.34240750G>A | CA391619730 | SLC12A6 | c.2347C>T (p.Leu783Phe) c.2194C>T (p.Leu732Phe) c.2170C>T (p.Leu724Phe) c.2302C>T (p.Leu768Phe) c.2320C>T (p.Leu774Phe) n.295C>T c.1783C>T (p.Leu595Phe) c.2200C>T (p.Leu734Phe) n.2353C>T n.2354C>T n.3597C>T | |
| 15 | g.34240750G>C | CA391619731 | SLC12A6 | c.2347C>G (p.Leu783Val) c.2194C>G (p.Leu732Val) c.2170C>G (p.Leu724Val) c.2302C>G (p.Leu768Val) c.2320C>G (p.Leu774Val) n.295C>G c.1783C>G (p.Leu595Val) c.2200C>G (p.Leu734Val) n.2353C>G n.2354C>G n.3597C>G | |
| 15 | g.34240750G>T | CA391619732 | SLC12A6 | c.2347C>A (p.Leu783Ile) c.2194C>A (p.Leu732Ile) c.2170C>A (p.Leu724Ile) c.2302C>A (p.Leu768Ile) c.2320C>A (p.Leu774Ile) n.295C>A c.1783C>A (p.Leu595Ile) c.2200C>A (p.Leu734Ile) n.2353C>A n.2354C>A n.3597C>A | |
| 15 | g.34240751C>A | CA391619733 | SLC12A6 | c.2346G>T (p.Gln782His) c.2193G>T (p.Gln731His) c.2169G>T (p.Gln723His) c.2301G>T (p.Gln767His) c.2319G>T (p.Gln773His) n.294G>T c.1782G>T (p.Gln594His) c.2199G>T (p.Gln733His) n.2352G>T n.2353G>T n.3596G>T | |
| 15 | g.34240751C>G | CA391619734 | SLC12A6 | c.2346G>C (p.Gln782His) c.2193G>C (p.Gln731His) c.2169G>C (p.Gln723His) c.2301G>C (p.Gln767His) c.2319G>C (p.Gln773His) n.294G>C c.1782G>C (p.Gln594His) c.2199G>C (p.Gln733His) n.2352G>C n.2353G>C n.3596G>C | |
| 15 | g.34240751C>T | CA489413585 | SLC12A6 | c.2346G>A (p.Gln782=) c.2193G>A (p.Gln731=) c.2169G>A (p.Gln723=) c.2301G>A (p.Gln767=) c.2319G>A (p.Gln773=) n.294G>A c.1782G>A (p.Gln594=) c.2199G>A (p.Gln733=) n.2352G>A n.2353G>A n.3596G>A | gnomAD v4 |
| 15 | g.34240752T>A | CA391619735 | SLC12A6 | c.2345A>T (p.Gln782Leu) c.2192A>T (p.Gln731Leu) c.2168A>T (p.Gln723Leu) c.2300A>T (p.Gln767Leu) c.2318A>T (p.Gln773Leu) n.293A>T c.1781A>T (p.Gln594Leu) c.2198A>T (p.Gln733Leu) n.2351A>T n.2352A>T n.3595A>T | |
| 15 | g.34240752T>C | CA391619736 | SLC12A6 | c.2345A>G (p.Gln782Arg) c.2192A>G (p.Gln731Arg) c.2168A>G (p.Gln723Arg) c.2300A>G (p.Gln767Arg) c.2318A>G (p.Gln773Arg) n.293A>G c.1781A>G (p.Gln594Arg) c.2198A>G (p.Gln733Arg) n.2351A>G n.2352A>G n.3595A>G | |
| 15 | g.34240752T>G | CA391619737 | SLC12A6 | c.2345A>C (p.Gln782Pro) c.2192A>C (p.Gln731Pro) c.2168A>C (p.Gln723Pro) c.2300A>C (p.Gln767Pro) c.2318A>C (p.Gln773Pro) n.293A>C c.1781A>C (p.Gln594Pro) c.2198A>C (p.Gln733Pro) n.2351A>C n.2352A>C n.3595A>C | |
| 15 | g.34240753G>A | CA391619740 | SLC12A6 | c.2344C>T (p.Gln782Ter) c.2191C>T (p.Gln731Ter) c.2167C>T (p.Gln723Ter) c.2299C>T (p.Gln767Ter) c.2317C>T (p.Gln773Ter) n.292C>T c.1780C>T (p.Gln594Ter) c.2197C>T (p.Gln733Ter) n.2350C>T n.2351C>T n.3594C>T | |
| 15 | g.34240753G>C | CA391619739 | SLC12A6 | c.2344C>G (p.Gln782Glu) c.2191C>G (p.Gln731Glu) c.2167C>G (p.Gln723Glu) c.2299C>G (p.Gln767Glu) c.2317C>G (p.Gln773Glu) n.292C>G c.1780C>G (p.Gln594Glu) c.2197C>G (p.Gln733Glu) n.2350C>G n.2351C>G n.3594C>G | |
| 15 | g.34240753G>T | CA391619738 | SLC12A6 | c.2344C>A (p.Gln782Lys) c.2191C>A (p.Gln731Lys) c.2167C>A (p.Gln723Lys) c.2299C>A (p.Gln767Lys) c.2317C>A (p.Gln773Lys) n.292C>A c.1780C>A (p.Gln594Lys) c.2197C>A (p.Gln733Lys) n.2350C>A n.2351C>A n.3594C>A | |
| 15 | g.34240754T>A | CA489413597 | SLC12A6 | c.2343A>T (p.Ser781=) c.2190A>T (p.Ser730=) c.2166A>T (p.Ser722=) c.2298A>T (p.Ser766=) c.2316A>T (p.Ser772=) n.291A>T c.1779A>T (p.Ser593=) c.2196A>T (p.Ser732=) n.2349A>T n.2350A>T n.3593A>T | |
| 15 | g.34240754T>C | CA489413599 | SLC12A6 | c.2343A>G (p.Ser781=) c.2190A>G (p.Ser730=) c.2166A>G (p.Ser722=) c.2298A>G (p.Ser766=) c.2316A>G (p.Ser772=) n.291A>G c.1779A>G (p.Ser593=) c.2196A>G (p.Ser732=) n.2349A>G n.2350A>G n.3593A>G | gnomAD v4 |
| 15 | g.34240754T>G | CA489413601 | SLC12A6 | c.2343A>C (p.Ser781=) c.2190A>C (p.Ser730=) c.2166A>C (p.Ser722=) c.2298A>C (p.Ser766=) c.2316A>C (p.Ser772=) n.291A>C c.1779A>C (p.Ser593=) c.2196A>C (p.Ser732=) n.2349A>C n.2350A>C n.3593A>C | gnomAD v4 |
| 15 | g.34240755G>A | CA391619741 | SLC12A6 | c.2342C>T (p.Ser781Leu) c.2189C>T (p.Ser730Leu) c.2165C>T (p.Ser722Leu) c.2297C>T (p.Ser766Leu) c.2315C>T (p.Ser772Leu) n.290C>T c.1778C>T (p.Ser593Leu) c.2195C>T (p.Ser732Leu) n.2348C>T n.2349C>T n.3592C>T | gnomAD v4 |
| 15 | g.34240755G>C | CA391619742 | SLC12A6 | c.2342C>G (p.Ser781Ter) c.2189C>G (p.Ser730Ter) c.2165C>G (p.Ser722Ter) c.2297C>G (p.Ser766Ter) c.2315C>G (p.Ser772Ter) n.290C>G c.1778C>G (p.Ser593Ter) c.2195C>G (p.Ser732Ter) n.2348C>G n.2349C>G n.3592C>G | |
| 15 | g.34240755G>T | CA391619743 | SLC12A6 | c.2342C>A (p.Ser781Ter) c.2189C>A (p.Ser730Ter) c.2165C>A (p.Ser722Ter) c.2297C>A (p.Ser766Ter) c.2315C>A (p.Ser772Ter) n.290C>A c.1778C>A (p.Ser593Ter) c.2195C>A (p.Ser732Ter) n.2348C>A n.2349C>A n.3592C>A | |
| 15 | g.34240756A>C | CA391619744 | SLC12A6 | c.2341T>G (p.Ser781Ala) c.2188T>G (p.Ser730Ala) c.2164T>G (p.Ser722Ala) c.2296T>G (p.Ser766Ala) c.2314T>G (p.Ser772Ala) n.289T>G c.1777T>G (p.Ser593Ala) c.2194T>G (p.Ser732Ala) n.2347T>G n.2348T>G n.3591T>G | |
| 15 | g.34240756A>G | CA391619745 | SLC12A6 | c.2341T>C (p.Ser781Pro) c.2188T>C (p.Ser730Pro) c.2164T>C (p.Ser722Pro) c.2296T>C (p.Ser766Pro) c.2314T>C (p.Ser772Pro) n.289T>C c.1777T>C (p.Ser593Pro) c.2194T>C (p.Ser732Pro) n.2347T>C n.2348T>C n.3591T>C | |
| 15 | g.34240756A>T | CA391619746 | SLC12A6 | c.2341T>A (p.Ser781Thr) c.2188T>A (p.Ser730Thr) c.2164T>A (p.Ser722Thr) c.2296T>A (p.Ser766Thr) c.2314T>A (p.Ser772Thr) n.289T>A c.1777T>A (p.Ser593Thr) c.2194T>A (p.Ser732Thr) n.2347T>A n.2348T>A n.3591T>A | |
| 15 | g.34240757G>A | CA268662469 | SLC12A6 | c.2340C>T (p.Ala780=) c.2187C>T (p.Ala729=) c.2163C>T (p.Ala721=) c.2295C>T (p.Ala765=) c.2313C>T (p.Ala771=) n.288C>T c.1776C>T (p.Ala592=) c.2193C>T (p.Ala731=) n.2346C>T n.2347C>T n.3590C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.34240757G>C | CA489413612 | SLC12A6 | c.2340C>G (p.Ala780=) c.2187C>G (p.Ala729=) c.2163C>G (p.Ala721=) c.2295C>G (p.Ala765=) c.2313C>G (p.Ala771=) n.288C>G c.1776C>G (p.Ala592=) c.2193C>G (p.Ala731=) n.2346C>G n.2347C>G n.3590C>G | |
| 15 | g.34240757G>T | CA489413614 | SLC12A6 | c.2340C>A (p.Ala780=) c.2187C>A (p.Ala729=) c.2163C>A (p.Ala721=) c.2295C>A (p.Ala765=) c.2313C>A (p.Ala771=) n.288C>A c.1776C>A (p.Ala592=) c.2193C>A (p.Ala731=) n.2346C>A n.2347C>A n.3590C>A | |
| 15 | g.34240758G>A | CA391619747 | SLC12A6 | c.2339C>T (p.Ala780Val) c.2186C>T (p.Ala729Val) c.2162C>T (p.Ala721Val) c.2294C>T (p.Ala765Val) c.2312C>T (p.Ala771Val) n.287C>T c.1775C>T (p.Ala592Val) c.2192C>T (p.Ala731Val) n.2345C>T n.2346C>T n.3589C>T | |
| 15 | g.34240758G>C | CA391619748 | SLC12A6 | c.2339C>G (p.Ala780Gly) c.2186C>G (p.Ala729Gly) c.2162C>G (p.Ala721Gly) c.2294C>G (p.Ala765Gly) c.2312C>G (p.Ala771Gly) n.287C>G c.1775C>G (p.Ala592Gly) c.2192C>G (p.Ala731Gly) n.2345C>G n.2346C>G n.3589C>G | |
| 15 | g.34240758G>T | CA391619749 | SLC12A6 | c.2339C>A (p.Ala780Asp) c.2186C>A (p.Ala729Asp) c.2162C>A (p.Ala721Asp) c.2294C>A (p.Ala765Asp) c.2312C>A (p.Ala771Asp) n.287C>A c.1775C>A (p.Ala592Asp) c.2192C>A (p.Ala731Asp) n.2345C>A n.2346C>A n.3589C>A | |
| 15 | g.34240759C>A | CA391619750 | SLC12A6 | c.2338G>T (p.Ala780Ser) c.2185G>T (p.Ala729Ser) c.2161G>T (p.Ala721Ser) c.2293G>T (p.Ala765Ser) c.2311G>T (p.Ala771Ser) n.286G>T c.1774G>T (p.Ala592Ser) c.2191G>T (p.Ala731Ser) n.2344G>T n.2345G>T n.3588G>T | |
| 15 | g.34240759C>G | CA391619751 | SLC12A6 | c.2338G>C (p.Ala780Pro) c.2185G>C (p.Ala729Pro) c.2161G>C (p.Ala721Pro) c.2293G>C (p.Ala765Pro) c.2311G>C (p.Ala771Pro) n.286G>C c.1774G>C (p.Ala592Pro) c.2191G>C (p.Ala731Pro) n.2344G>C n.2345G>C n.3588G>C | ClinVar |
| 15 | g.34240759C>T | CA391619752 | SLC12A6 | c.2338G>A (p.Ala780Thr) c.2185G>A (p.Ala729Thr) c.2161G>A (p.Ala721Thr) c.2293G>A (p.Ala765Thr) c.2311G>A (p.Ala771Thr) n.286G>A c.1774G>A (p.Ala592Thr) c.2191G>A (p.Ala731Thr) n.2344G>A n.2345G>A n.3588G>A | |
| 15 | g.34240760A>C | CA391619754 | SLC12A6 | c.2337T>G (p.Phe779Leu) c.2184T>G (p.Phe728Leu) c.2160T>G (p.Phe720Leu) c.2292T>G (p.Phe764Leu) c.2310T>G (p.Phe770Leu) n.285T>G c.1773T>G (p.Phe591Leu) c.2190T>G (p.Phe730Leu) n.2343T>G n.2344T>G n.3587T>G | |
| 15 | g.34240760A>G | CA489413625 | SLC12A6 | c.2337T>C (p.Phe779=) c.2184T>C (p.Phe728=) c.2160T>C (p.Phe720=) c.2292T>C (p.Phe764=) c.2310T>C (p.Phe770=) n.285T>C c.1773T>C (p.Phe591=) c.2190T>C (p.Phe730=) n.2343T>C n.2344T>C n.3587T>C | |
| 15 | g.34240760A>T | CA391619753 | SLC12A6 | c.2337T>A (p.Phe779Leu) c.2184T>A (p.Phe728Leu) c.2160T>A (p.Phe720Leu) c.2292T>A (p.Phe764Leu) c.2310T>A (p.Phe770Leu) n.285T>A c.1773T>A (p.Phe591Leu) c.2190T>A (p.Phe730Leu) n.2343T>A n.2344T>A n.3587T>A | |
| 15 | g.34240761A>C | CA391619755 | SLC12A6 | c.2336T>G (p.Phe779Cys) c.2183T>G (p.Phe728Cys) c.2159T>G (p.Phe720Cys) c.2291T>G (p.Phe764Cys) c.2309T>G (p.Phe770Cys) n.284T>G c.1772T>G (p.Phe591Cys) c.2189T>G (p.Phe730Cys) n.2342T>G n.2343T>G n.3586T>G | |
| 15 | g.34240761A>G | CA391619756 | SLC12A6 | c.2336T>C (p.Phe779Ser) c.2183T>C (p.Phe728Ser) c.2159T>C (p.Phe720Ser) c.2291T>C (p.Phe764Ser) c.2309T>C (p.Phe770Ser) n.284T>C c.1772T>C (p.Phe591Ser) c.2189T>C (p.Phe730Ser) n.2342T>C n.2343T>C n.3586T>C | |
| 15 | g.34240761A>T | CA391619757 | SLC12A6 | c.2336T>A (p.Phe779Tyr) c.2183T>A (p.Phe728Tyr) c.2159T>A (p.Phe720Tyr) c.2291T>A (p.Phe764Tyr) c.2309T>A (p.Phe770Tyr) n.284T>A c.1772T>A (p.Phe591Tyr) c.2189T>A (p.Phe730Tyr) n.2342T>A n.2343T>A n.3586T>A | |
| 15 | g.34240762A>C | CA391619758 | SLC12A6 | c.2335T>G (p.Phe779Val) c.2182T>G (p.Phe728Val) c.2158T>G (p.Phe720Val) c.2290T>G (p.Phe764Val) c.2308T>G (p.Phe770Val) n.283T>G c.1771T>G (p.Phe591Val) c.2188T>G (p.Phe730Val) n.2341T>G n.2342T>G n.3585T>G | |
| 15 | g.34240762A>G | CA391619759 | SLC12A6 | c.2335T>C (p.Phe779Leu) c.2182T>C (p.Phe728Leu) c.2158T>C (p.Phe720Leu) c.2290T>C (p.Phe764Leu) c.2308T>C (p.Phe770Leu) n.283T>C c.1771T>C (p.Phe591Leu) c.2188T>C (p.Phe730Leu) n.2341T>C n.2342T>C n.3585T>C | |
| 15 | g.34240762A>T | CA391619760 | SLC12A6 | c.2335T>A (p.Phe779Ile) c.2182T>A (p.Phe728Ile) c.2158T>A (p.Phe720Ile) c.2290T>A (p.Phe764Ile) c.2308T>A (p.Phe770Ile) n.283T>A c.1771T>A (p.Phe591Ile) c.2188T>A (p.Phe730Ile) n.2341T>A n.2342T>A n.3585T>A | |
| 15 | g.34240763G>A | CA489413639 | SLC12A6 | c.2334C>T (p.Thr778=) c.2181C>T (p.Thr727=) c.2157C>T (p.Thr719=) c.2289C>T (p.Thr763=) c.2307C>T (p.Thr769=) n.282C>T c.1770C>T (p.Thr590=) c.2187C>T (p.Thr729=) n.2340C>T n.2341C>T n.3584C>T | |
| 15 | g.34240763G>C | CA268662474 | SLC12A6 | c.2334C>G (p.Thr778=) c.2181C>G (p.Thr727=) c.2157C>G (p.Thr719=) c.2289C>G (p.Thr763=) c.2307C>G (p.Thr769=) n.282C>G c.1770C>G (p.Thr590=) c.2187C>G (p.Thr729=) n.2340C>G n.2341C>G n.3584C>G | dbSNP |
| 15 | g.34240763G>T | CA489413636 | SLC12A6 | c.2334C>A (p.Thr778=) c.2181C>A (p.Thr727=) c.2157C>A (p.Thr719=) c.2289C>A (p.Thr763=) c.2307C>A (p.Thr769=) n.282C>A c.1770C>A (p.Thr590=) c.2187C>A (p.Thr729=) n.2340C>A n.2341C>A n.3584C>A | |
| 15 | g.34240764G>A | CA391619763 | SLC12A6 | c.2333C>T (p.Thr778Ile) c.2180C>T (p.Thr727Ile) c.2156C>T (p.Thr719Ile) c.2288C>T (p.Thr763Ile) c.2306C>T (p.Thr769Ile) n.281C>T c.1769C>T (p.Thr590Ile) c.2186C>T (p.Thr729Ile) n.2339C>T n.2340C>T n.3583C>T | |
| 15 | g.34240764G>C | CA391619762 | SLC12A6 | c.2333C>G (p.Thr778Ser) c.2180C>G (p.Thr727Ser) c.2156C>G (p.Thr719Ser) c.2288C>G (p.Thr763Ser) c.2306C>G (p.Thr769Ser) n.281C>G c.1769C>G (p.Thr590Ser) c.2186C>G (p.Thr729Ser) n.2339C>G n.2340C>G n.3583C>G | |
| 15 | g.34240764G>T | CA391619761 | SLC12A6 | c.2333C>A (p.Thr778Asn) c.2180C>A (p.Thr727Asn) c.2156C>A (p.Thr719Asn) c.2288C>A (p.Thr763Asn) c.2306C>A (p.Thr769Asn) n.281C>A c.1769C>A (p.Thr590Asn) c.2186C>A (p.Thr729Asn) n.2339C>A n.2340C>A n.3583C>A | gnomAD v4 |
| 15 | g.34240765T>A | CA391619764 | SLC12A6 | c.2332A>T (p.Thr778Ser) c.2179A>T (p.Thr727Ser) c.2155A>T (p.Thr719Ser) c.2287A>T (p.Thr763Ser) c.2305A>T (p.Thr769Ser) n.280A>T c.1768A>T (p.Thr590Ser) c.2185A>T (p.Thr729Ser) n.2338A>T n.2339A>T n.3582A>T | |
| 15 | g.34240765T>C | CA391619765 | SLC12A6 | c.2332A>G (p.Thr778Ala) c.2179A>G (p.Thr727Ala) c.2155A>G (p.Thr719Ala) c.2287A>G (p.Thr763Ala) c.2305A>G (p.Thr769Ala) n.280A>G c.1768A>G (p.Thr590Ala) c.2185A>G (p.Thr729Ala) n.2338A>G n.2339A>G n.3582A>G | |
| 15 | g.34240765T>G | CA391619766 | SLC12A6 | c.2332A>C (p.Thr778Pro) c.2179A>C (p.Thr727Pro) c.2155A>C (p.Thr719Pro) c.2287A>C (p.Thr763Pro) c.2305A>C (p.Thr769Pro) n.280A>C c.1768A>C (p.Thr590Pro) c.2185A>C (p.Thr729Pro) n.2338A>C n.2339A>C n.3582A>C | |
| 15 | g.34240766G>A | CA489413651 | SLC12A6 | c.2331C>T (p.Leu777=) c.2178C>T (p.Leu726=) c.2154C>T (p.Leu718=) c.2286C>T (p.Leu762=) c.2304C>T (p.Leu768=) n.279C>T c.1767C>T (p.Leu589=) c.2184C>T (p.Leu728=) n.2337C>T n.2338C>T n.3581C>T | |
| 15 | g.34240766G>C | CA489413648 | SLC12A6 | c.2331C>G (p.Leu777=) c.2178C>G (p.Leu726=) c.2154C>G (p.Leu718=) c.2286C>G (p.Leu762=) c.2304C>G (p.Leu768=) n.279C>G c.1767C>G (p.Leu589=) c.2184C>G (p.Leu728=) n.2337C>G n.2338C>G n.3581C>G | |
| 15 | g.34240766G>T | CA489413650 | SLC12A6 | c.2331C>A (p.Leu777=) c.2178C>A (p.Leu726=) c.2154C>A (p.Leu718=) c.2286C>A (p.Leu762=) c.2304C>A (p.Leu768=) n.279C>A c.1767C>A (p.Leu589=) c.2184C>A (p.Leu728=) n.2337C>A n.2338C>A n.3581C>A | |
| 15 | g.34240771_34240778dup | CA2575668393 | SLC12A6 | c.2324_2331dup (p.Thr778AlafsTer27) c.2171_2178dup (p.Thr727AlafsTer27) c.2147_2154dup (p.Thr719AlafsTer27) c.2279_2286dup (p.Thr763AlafsTer27) c.2297_2304dup (p.Thr769AlafsTer27) n.272_279dup c.1760_1767dup (p.Thr590AlafsTer27) c.2177_2184dup (p.Thr729AlafsTer27) n.2330_2337dup n.2331_2338dup n.3574_3581dup | |
| 15 | g.34240767A>C | CA391619767 | SLC12A6 | c.2330T>G (p.Leu777Arg) c.2177T>G (p.Leu726Arg) c.2153T>G (p.Leu718Arg) c.2285T>G (p.Leu762Arg) c.2303T>G (p.Leu768Arg) n.278T>G c.1766T>G (p.Leu589Arg) c.2183T>G (p.Leu728Arg) n.2336T>G n.2337T>G n.3580T>G | |
| 15 | g.34240767A>G | CA391619768 | SLC12A6 | c.2330T>C (p.Leu777Pro) c.2177T>C (p.Leu726Pro) c.2153T>C (p.Leu718Pro) c.2285T>C (p.Leu762Pro) c.2303T>C (p.Leu768Pro) n.278T>C c.1766T>C (p.Leu589Pro) c.2183T>C (p.Leu728Pro) n.2336T>C n.2337T>C n.3580T>C | |
| 15 | g.34240767A>T | CA391619769 | SLC12A6 | c.2330T>A (p.Leu777His) c.2177T>A (p.Leu726His) c.2153T>A (p.Leu718His) c.2285T>A (p.Leu762His) c.2303T>A (p.Leu768His) n.278T>A c.1766T>A (p.Leu589His) c.2183T>A (p.Leu728His) n.2336T>A n.2337T>A n.3580T>A | |
| 15 | g.34240768G>A | CA391619770 | SLC12A6 | c.2329C>T (p.Leu777Phe) c.2176C>T (p.Leu726Phe) c.2152C>T (p.Leu718Phe) c.2284C>T (p.Leu762Phe) c.2302C>T (p.Leu768Phe) n.277C>T c.1765C>T (p.Leu589Phe) c.2182C>T (p.Leu728Phe) n.2335C>T n.2336C>T n.3579C>T | dbSNP |
| 15 | g.34240768G>C | CA391619772 | SLC12A6 | c.2329C>G (p.Leu777Val) c.2176C>G (p.Leu726Val) c.2152C>G (p.Leu718Val) c.2284C>G (p.Leu762Val) c.2302C>G (p.Leu768Val) n.277C>G c.1765C>G (p.Leu589Val) c.2182C>G (p.Leu728Val) n.2335C>G n.2336C>G n.3579C>G | |
| 15 | g.34240768G>T | CA391619771 | SLC12A6 | c.2329C>A (p.Leu777Ile) c.2176C>A (p.Leu726Ile) c.2152C>A (p.Leu718Ile) c.2284C>A (p.Leu762Ile) c.2302C>A (p.Leu768Ile) n.277C>A c.1765C>A (p.Leu589Ile) c.2182C>A (p.Leu728Ile) n.2335C>A n.2336C>A n.3579C>A | |
| 15 | g.34240769G>A | CA489413661 | SLC12A6 | c.2328C>T (p.Leu776=) c.2175C>T (p.Leu725=) c.2151C>T (p.Leu717=) c.2283C>T (p.Leu761=) c.2301C>T (p.Leu767=) n.276C>T c.1764C>T (p.Leu588=) c.2181C>T (p.Leu727=) n.2334C>T n.2335C>T n.3578C>T | |
| 15 | g.34240769G>C | CA489413663 | SLC12A6 | c.2328C>G (p.Leu776=) c.2175C>G (p.Leu725=) c.2151C>G (p.Leu717=) c.2283C>G (p.Leu761=) c.2301C>G (p.Leu767=) n.276C>G c.1764C>G (p.Leu588=) c.2181C>G (p.Leu727=) n.2334C>G n.2335C>G n.3578C>G | |
| 15 | g.34240769G>T | CA489413664 | SLC12A6 | c.2328C>A (p.Leu776=) c.2175C>A (p.Leu725=) c.2151C>A (p.Leu717=) c.2283C>A (p.Leu761=) c.2301C>A (p.Leu767=) n.276C>A c.1764C>A (p.Leu588=) c.2181C>A (p.Leu727=) n.2334C>A n.2335C>A n.3578C>A | |
| 15 | g.34240770A>C | CA391619773 | SLC12A6 | c.2327T>G (p.Leu776Arg) c.2174T>G (p.Leu725Arg) c.2150T>G (p.Leu717Arg) c.2282T>G (p.Leu761Arg) c.2300T>G (p.Leu767Arg) n.275T>G c.1763T>G (p.Leu588Arg) c.2180T>G (p.Leu727Arg) n.2333T>G n.2334T>G n.3577T>G | |
| 15 | g.34240770A>G | CA391619774 | SLC12A6 | c.2327T>C (p.Leu776Pro) c.2174T>C (p.Leu725Pro) c.2150T>C (p.Leu717Pro) c.2282T>C (p.Leu761Pro) c.2300T>C (p.Leu767Pro) n.275T>C c.1763T>C (p.Leu588Pro) c.2180T>C (p.Leu727Pro) n.2333T>C n.2334T>C n.3577T>C | |
| 15 | g.34240770A>T | CA391619775 | SLC12A6 | c.2327T>A (p.Leu776His) c.2174T>A (p.Leu725His) c.2150T>A (p.Leu717His) c.2282T>A (p.Leu761His) c.2300T>A (p.Leu767His) n.275T>A c.1763T>A (p.Leu588His) c.2180T>A (p.Leu727His) n.2333T>A n.2334T>A n.3577T>A | |
| 15 | g.34240771G>A | CA391619776 | SLC12A6 | c.2326C>T (p.Leu776Phe) c.2173C>T (p.Leu725Phe) c.2149C>T (p.Leu717Phe) c.2281C>T (p.Leu761Phe) c.2299C>T (p.Leu767Phe) n.274C>T c.1762C>T (p.Leu588Phe) c.2179C>T (p.Leu727Phe) n.2332C>T n.2333C>T n.3576C>T | gnomAD v4 |
| 15 | g.34240771G>C | CA391619777 | SLC12A6 | c.2326C>G (p.Leu776Val) c.2173C>G (p.Leu725Val) c.2149C>G (p.Leu717Val) c.2281C>G (p.Leu761Val) c.2299C>G (p.Leu767Val) n.274C>G c.1762C>G (p.Leu588Val) c.2179C>G (p.Leu727Val) n.2332C>G n.2333C>G n.3576C>G | |
| 15 | g.34240771G>T | CA391619778 | SLC12A6 | c.2326C>A (p.Leu776Ile) c.2173C>A (p.Leu725Ile) c.2149C>A (p.Leu717Ile) c.2281C>A (p.Leu761Ile) c.2299C>A (p.Leu767Ile) n.274C>A c.1762C>A (p.Leu588Ile) c.2179C>A (p.Leu727Ile) n.2332C>A n.2333C>A n.3576C>A | |
| 15 | g.34240772G>A | CA489413679 | SLC12A6 | c.2325C>T (p.Arg775=) c.2172C>T (p.Arg724=) c.2148C>T (p.Arg716=) c.2280C>T (p.Arg760=) c.2298C>T (p.Arg766=) n.273C>T c.1761C>T (p.Arg587=) c.2178C>T (p.Arg726=) n.2331C>T n.2332C>T n.3575C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34240772G>C | CA489413678 | SLC12A6 | c.2325C>G (p.Arg775=) c.2172C>G (p.Arg724=) c.2148C>G (p.Arg716=) c.2280C>G (p.Arg760=) c.2298C>G (p.Arg766=) n.273C>G c.1761C>G (p.Arg587=) c.2178C>G (p.Arg726=) n.2331C>G n.2332C>G n.3575C>G | |
| 15 | g.34240772G>T | CA489413676 | SLC12A6 | c.2325C>A (p.Arg775=) c.2172C>A (p.Arg724=) c.2148C>A (p.Arg716=) c.2280C>A (p.Arg760=) c.2298C>A (p.Arg766=) n.273C>A c.1761C>A (p.Arg587=) c.2178C>A (p.Arg726=) n.2331C>A n.2332C>A n.3575C>A | |
| 15 | g.34240773C>A | CA391619779 | SLC12A6 | c.2324G>T (p.Arg775Leu) c.2171G>T (p.Arg724Leu) c.2147G>T (p.Arg716Leu) c.2279G>T (p.Arg760Leu) c.2297G>T (p.Arg766Leu) n.272G>T c.1760G>T (p.Arg587Leu) c.2177G>T (p.Arg726Leu) n.2330G>T n.2331G>T n.3574G>T | |
| 15 | g.34240773C>G | CA391619780 | SLC12A6 | c.2324G>C (p.Arg775Pro) c.2171G>C (p.Arg724Pro) c.2147G>C (p.Arg716Pro) c.2279G>C (p.Arg760Pro) c.2297G>C (p.Arg766Pro) n.272G>C c.1760G>C (p.Arg587Pro) c.2177G>C (p.Arg726Pro) n.2330G>C n.2331G>C n.3574G>C | |
| 15 | g.34240773C>T | CA391619781 | SLC12A6 | c.2324G>A (p.Arg775His) c.2171G>A (p.Arg724His) c.2147G>A (p.Arg716His) c.2279G>A (p.Arg760His) c.2297G>A (p.Arg766His) n.272G>A c.1760G>A (p.Arg587His) c.2177G>A (p.Arg726His) n.2330G>A n.2331G>A n.3574G>A | dbSNP |
| 15 | g.34240774G>A | CA7464099 | SLC12A6 | c.2323C>T (p.Arg775Cys) c.2170C>T (p.Arg724Cys) c.2146C>T (p.Arg716Cys) c.2278C>T (p.Arg760Cys) c.2296C>T (p.Arg766Cys) n.271C>T c.1759C>T (p.Arg587Cys) c.2176C>T (p.Arg726Cys) n.2329C>T n.2330C>T n.3573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240774G>C | CA391619782 | SLC12A6 | c.2323C>G (p.Arg775Gly) c.2170C>G (p.Arg724Gly) c.2146C>G (p.Arg716Gly) c.2278C>G (p.Arg760Gly) c.2296C>G (p.Arg766Gly) n.271C>G c.1759C>G (p.Arg587Gly) c.2176C>G (p.Arg726Gly) n.2329C>G n.2330C>G n.3573C>G | |
| 15 | g.34240774G>T | CA391619783 | SLC12A6 | c.2323C>A (p.Arg775Ser) c.2170C>A (p.Arg724Ser) c.2146C>A (p.Arg716Ser) c.2278C>A (p.Arg760Ser) c.2296C>A (p.Arg766Ser) n.271C>A c.1759C>A (p.Arg587Ser) c.2176C>A (p.Arg726Ser) n.2329C>A n.2330C>A n.3573C>A | |
| 15 | g.34240775A>C | CA489413690 | SLC12A6 | c.2322T>G (p.Pro774=) c.2169T>G (p.Pro723=) c.2145T>G (p.Pro715=) c.2277T>G (p.Pro759=) c.2295T>G (p.Pro765=) n.270T>G c.1758T>G (p.Pro586=) c.2175T>G (p.Pro725=) n.2328T>G n.2329T>G n.3572T>G | |
| 15 | g.34240775A>G | CA489413692 | SLC12A6 | c.2322T>C (p.Pro774=) c.2169T>C (p.Pro723=) c.2145T>C (p.Pro715=) c.2277T>C (p.Pro759=) c.2295T>C (p.Pro765=) n.270T>C c.1758T>C (p.Pro586=) c.2175T>C (p.Pro725=) n.2328T>C n.2329T>C n.3572T>C | |
| 15 | g.34240775A>T | CA489413693 | SLC12A6 | c.2322T>A (p.Pro774=) c.2169T>A (p.Pro723=) c.2145T>A (p.Pro715=) c.2277T>A (p.Pro759=) c.2295T>A (p.Pro765=) n.270T>A c.1758T>A (p.Pro586=) c.2175T>A (p.Pro725=) n.2328T>A n.2329T>A n.3572T>A | |
| 15 | g.34240776G>A | CA391619784 | SLC12A6 | c.2321C>T (p.Pro774Leu) c.2168C>T (p.Pro723Leu) c.2144C>T (p.Pro715Leu) c.2276C>T (p.Pro759Leu) c.2294C>T (p.Pro765Leu) n.269C>T c.1757C>T (p.Pro586Leu) c.2174C>T (p.Pro725Leu) n.2327C>T n.2328C>T n.3571C>T | |
| 15 | g.34240776G>C | CA391619786 | SLC12A6 | c.2321C>G (p.Pro774Arg) c.2168C>G (p.Pro723Arg) c.2144C>G (p.Pro715Arg) c.2276C>G (p.Pro759Arg) c.2294C>G (p.Pro765Arg) n.269C>G c.1757C>G (p.Pro586Arg) c.2174C>G (p.Pro725Arg) n.2327C>G n.2328C>G n.3571C>G | |
| 15 | g.34240776G>T | CA391619785 | SLC12A6 | c.2321C>A (p.Pro774His) c.2168C>A (p.Pro723His) c.2144C>A (p.Pro715His) c.2276C>A (p.Pro759His) c.2294C>A (p.Pro765His) n.269C>A c.1757C>A (p.Pro586His) c.2174C>A (p.Pro725His) n.2327C>A n.2328C>A n.3571C>A | |
| 15 | g.34240777G>A | CA391619787 | SLC12A6 | c.2320C>T (p.Pro774Ser) c.2167C>T (p.Pro723Ser) c.2143C>T (p.Pro715Ser) c.2275C>T (p.Pro759Ser) c.2293C>T (p.Pro765Ser) n.268C>T c.1756C>T (p.Pro586Ser) c.2173C>T (p.Pro725Ser) n.2326C>T n.2327C>T n.3570C>T | |
| 15 | g.34240777G>C | CA268662492 | SLC12A6 | c.2320C>G (p.Pro774Ala) c.2167C>G (p.Pro723Ala) c.2143C>G (p.Pro715Ala) c.2275C>G (p.Pro759Ala) c.2293C>G (p.Pro765Ala) n.268C>G c.1756C>G (p.Pro586Ala) c.2173C>G (p.Pro725Ala) n.2326C>G n.2327C>G n.3570C>G | dbSNP |
| 15 | g.34240777G>T | CA391619788 | SLC12A6 | c.2320C>A (p.Pro774Thr) c.2167C>A (p.Pro723Thr) c.2143C>A (p.Pro715Thr) c.2275C>A (p.Pro759Thr) c.2293C>A (p.Pro765Thr) n.268C>A c.1756C>A (p.Pro586Thr) c.2173C>A (p.Pro725Thr) n.2326C>A n.2327C>A n.3570C>A | |
| 15 | g.34240778A>C | CA391619789 | SLC12A6 | c.2319T>G (p.His773Gln) c.2166T>G (p.His722Gln) c.2142T>G (p.His714Gln) c.2274T>G (p.His758Gln) c.2292T>G (p.His764Gln) n.267T>G c.1755T>G (p.His585Gln) c.2172T>G (p.His724Gln) n.2325T>G n.2326T>G n.3569T>G | |
| 15 | g.34240778A>G | CA489414071 | SLC12A6 | c.2319T>C (p.His773=) c.2166T>C (p.His722=) c.2142T>C (p.His714=) c.2274T>C (p.His758=) c.2292T>C (p.His764=) n.267T>C c.1755T>C (p.His585=) c.2172T>C (p.His724=) n.2325T>C n.2326T>C n.3569T>C | |
| 15 | g.34240778A>T | CA391619790 | SLC12A6 | c.2319T>A (p.His773Gln) c.2166T>A (p.His722Gln) c.2142T>A (p.His714Gln) c.2274T>A (p.His758Gln) c.2292T>A (p.His764Gln) n.267T>A c.1755T>A (p.His585Gln) c.2172T>A (p.His724Gln) n.2325T>A n.2326T>A n.3569T>A | |
| 15 | g.34240779T>A | CA391619793 | SLC12A6 | c.2318A>T (p.His773Leu) c.2165A>T (p.His722Leu) c.2141A>T (p.His714Leu) c.2273A>T (p.His758Leu) c.2291A>T (p.His764Leu) n.266A>T c.1754A>T (p.His585Leu) c.2171A>T (p.His724Leu) n.2324A>T n.2325A>T n.3568A>T | |
| 15 | g.34240779T>C | CA391619792 | SLC12A6 | c.2318A>G (p.His773Arg) c.2165A>G (p.His722Arg) c.2141A>G (p.His714Arg) c.2273A>G (p.His758Arg) c.2291A>G (p.His764Arg) n.266A>G c.1754A>G (p.His585Arg) c.2171A>G (p.His724Arg) n.2324A>G n.2325A>G n.3568A>G | |
| 15 | g.34240779T>G | CA391619791 | SLC12A6 | c.2318A>C (p.His773Pro) c.2165A>C (p.His722Pro) c.2141A>C (p.His714Pro) c.2273A>C (p.His758Pro) c.2291A>C (p.His764Pro) n.266A>C c.1754A>C (p.His585Pro) c.2171A>C (p.His724Pro) n.2324A>C n.2325A>C n.3568A>C | |
| 15 | g.34240780G>A | CA391619794 | SLC12A6 | c.2317C>T (p.His773Tyr) c.2164C>T (p.His722Tyr) c.2140C>T (p.His714Tyr) c.2272C>T (p.His758Tyr) c.2290C>T (p.His764Tyr) n.265C>T c.1753C>T (p.His585Tyr) c.2170C>T (p.His724Tyr) n.2323C>T n.2324C>T n.3567C>T | ClinVar gnomAD v4 |
| 15 | g.34240780G>C | CA391619795 | SLC12A6 | c.2317C>G (p.His773Asp) c.2164C>G (p.His722Asp) c.2140C>G (p.His714Asp) c.2272C>G (p.His758Asp) c.2290C>G (p.His764Asp) n.265C>G c.1753C>G (p.His585Asp) c.2170C>G (p.His724Asp) n.2323C>G n.2324C>G n.3567C>G | |
| 15 | g.34240780G>T | CA391619796 | SLC12A6 | c.2317C>A (p.His773Asn) c.2164C>A (p.His722Asn) c.2140C>A (p.His714Asn) c.2272C>A (p.His758Asn) c.2290C>A (p.His764Asn) n.265C>A c.1753C>A (p.His585Asn) c.2170C>A (p.His724Asn) n.2323C>A n.2324C>A n.3567C>A | |
| 15 | g.34240781C>A | CA391619797 | SLC12A6 | c.2316G>T (p.Lys772Asn) c.2163G>T (p.Lys721Asn) c.2139G>T (p.Lys713Asn) c.2271G>T (p.Lys757Asn) c.2289G>T (p.Lys763Asn) n.264G>T c.1752G>T (p.Lys584Asn) c.2169G>T (p.Lys723Asn) n.2322G>T n.2323G>T n.3566G>T | |
| 15 | g.34240781C>G | CA391619798 | SLC12A6 | c.2316G>C (p.Lys772Asn) c.2163G>C (p.Lys721Asn) c.2139G>C (p.Lys713Asn) c.2271G>C (p.Lys757Asn) c.2289G>C (p.Lys763Asn) n.264G>C c.1752G>C (p.Lys584Asn) c.2169G>C (p.Lys723Asn) n.2322G>C n.2323G>C n.3566G>C | |
| 15 | g.34240781C>T | CA7464100 | SLC12A6 | c.2316G>A (p.Lys772=) c.2163G>A (p.Lys721=) c.2139G>A (p.Lys713=) c.2271G>A (p.Lys757=) c.2289G>A (p.Lys763=) n.264G>A c.1752G>A (p.Lys584=) c.2169G>A (p.Lys723=) n.2322G>A n.2323G>A n.3566G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240782T>A | CA391619799 | SLC12A6 | c.2315A>T (p.Lys772Met) c.2162A>T (p.Lys721Met) c.2138A>T (p.Lys713Met) c.2270A>T (p.Lys757Met) c.2288A>T (p.Lys763Met) n.263A>T c.1751A>T (p.Lys584Met) c.2168A>T (p.Lys723Met) n.2321A>T n.2322A>T n.3565A>T | |
| 15 | g.34240782T>C | CA391619801 | SLC12A6 | c.2315A>G (p.Lys772Arg) c.2162A>G (p.Lys721Arg) c.2138A>G (p.Lys713Arg) c.2270A>G (p.Lys757Arg) c.2288A>G (p.Lys763Arg) n.263A>G c.1751A>G (p.Lys584Arg) c.2168A>G (p.Lys723Arg) n.2321A>G n.2322A>G n.3565A>G | gnomAD v4 |
| 15 | g.34240782T>G | CA391619800 | SLC12A6 | c.2315A>C (p.Lys772Thr) c.2162A>C (p.Lys721Thr) c.2138A>C (p.Lys713Thr) c.2270A>C (p.Lys757Thr) c.2288A>C (p.Lys763Thr) n.263A>C c.1751A>C (p.Lys584Thr) c.2168A>C (p.Lys723Thr) n.2321A>C n.2322A>C n.3565A>C | |
| 15 | g.34240783T>A | CA391619802 | SLC12A6 | c.2314A>T (p.Lys772Ter) c.2161A>T (p.Lys721Ter) c.2137A>T (p.Lys713Ter) c.2269A>T (p.Lys757Ter) c.2287A>T (p.Lys763Ter) n.262A>T c.1750A>T (p.Lys584Ter) c.2167A>T (p.Lys723Ter) n.2320A>T n.2321A>T n.3564A>T | |
| 15 | g.34240783T>C | CA391619803 | SLC12A6 | c.2314A>G (p.Lys772Glu) c.2161A>G (p.Lys721Glu) c.2137A>G (p.Lys713Glu) c.2269A>G (p.Lys757Glu) c.2287A>G (p.Lys763Glu) n.262A>G c.1750A>G (p.Lys584Glu) c.2167A>G (p.Lys723Glu) n.2320A>G n.2321A>G n.3564A>G | |
| 15 | g.34240783T>G | CA391619804 | SLC12A6 | c.2314A>C (p.Lys772Gln) c.2161A>C (p.Lys721Gln) c.2137A>C (p.Lys713Gln) c.2269A>C (p.Lys757Gln) c.2287A>C (p.Lys763Gln) n.262A>C c.1750A>C (p.Lys584Gln) c.2167A>C (p.Lys723Gln) n.2320A>C n.2321A>C n.3564A>C | |
| 15 | g.34240784G>A | CA489414091 | SLC12A6 | c.2313C>T (p.Val771=) c.2160C>T (p.Val720=) c.2136C>T (p.Val712=) c.2268C>T (p.Val756=) c.2286C>T (p.Val762=) n.261C>T c.1749C>T (p.Val583=) c.2166C>T (p.Val722=) n.2319C>T n.2320C>T n.3563C>T | |
| 15 | g.34240784G>C | CA489414095 | SLC12A6 | c.2313C>G (p.Val771=) c.2160C>G (p.Val720=) c.2136C>G (p.Val712=) c.2268C>G (p.Val756=) c.2286C>G (p.Val762=) n.261C>G c.1749C>G (p.Val583=) c.2166C>G (p.Val722=) n.2319C>G n.2320C>G n.3563C>G | |
| 15 | g.34240784G>T | CA489414093 | SLC12A6 | c.2313C>A (p.Val771=) c.2160C>A (p.Val720=) c.2136C>A (p.Val712=) c.2268C>A (p.Val756=) c.2286C>A (p.Val762=) n.261C>A c.1749C>A (p.Val583=) c.2166C>A (p.Val722=) n.2319C>A n.2320C>A n.3563C>A | |
| 15 | g.34240785A>C | CA7464101 | SLC12A6 | c.2312T>G (p.Val771Gly) c.2159T>G (p.Val720Gly) c.2135T>G (p.Val712Gly) c.2267T>G (p.Val756Gly) c.2285T>G (p.Val762Gly) n.260T>G c.1748T>G (p.Val583Gly) c.2165T>G (p.Val722Gly) n.2318T>G n.2319T>G n.3562T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34240785A>G | CA391619805 | SLC12A6 | c.2312T>C (p.Val771Ala) c.2159T>C (p.Val720Ala) c.2135T>C (p.Val712Ala) c.2267T>C (p.Val756Ala) c.2285T>C (p.Val762Ala) n.260T>C c.1748T>C (p.Val583Ala) c.2165T>C (p.Val722Ala) n.2318T>C n.2319T>C n.3562T>C | |
| 15 | g.34240785A>T | CA391619806 | SLC12A6 | c.2312T>A (p.Val771Asp) c.2159T>A (p.Val720Asp) c.2135T>A (p.Val712Asp) c.2267T>A (p.Val756Asp) c.2285T>A (p.Val762Asp) n.260T>A c.1748T>A (p.Val583Asp) c.2165T>A (p.Val722Asp) n.2318T>A n.2319T>A n.3562T>A | |
| 15 | g.34240786C>A | CA391619807 | SLC12A6 | c.2311G>T (p.Val771Phe) c.2158G>T (p.Val720Phe) c.2134G>T (p.Val712Phe) c.2266G>T (p.Val756Phe) c.2284G>T (p.Val762Phe) n.259G>T c.1747G>T (p.Val583Phe) c.2164G>T (p.Val722Phe) n.2317G>T n.2318G>T n.3561G>T | |
| 15 | g.34240786C>G | CA391619808 | SLC12A6 | c.2311G>C (p.Val771Leu) c.2158G>C (p.Val720Leu) c.2134G>C (p.Val712Leu) c.2266G>C (p.Val756Leu) c.2284G>C (p.Val762Leu) n.259G>C c.1747G>C (p.Val583Leu) c.2164G>C (p.Val722Leu) n.2317G>C n.2318G>C n.3561G>C | |
| 15 | g.34240786C>T | CA391619809 | SLC12A6 | c.2311G>A (p.Val771Ile) c.2158G>A (p.Val720Ile) c.2134G>A (p.Val712Ile) c.2266G>A (p.Val756Ile) c.2284G>A (p.Val762Ile) n.259G>A c.1747G>A (p.Val583Ile) c.2164G>A (p.Val722Ile) n.2317G>A n.2318G>A n.3561G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34240787A>C | CA391619810 | SLC12A6 | c.2310T>G (p.His770Gln) c.2157T>G (p.His719Gln) c.2133T>G (p.His711Gln) c.2265T>G (p.His755Gln) c.2283T>G (p.His761Gln) n.258T>G c.1746T>G (p.His582Gln) c.2163T>G (p.His721Gln) n.2316T>G n.2317T>G n.3560T>G | |
| 15 | g.34240787A>G | CA489414105 | SLC12A6 | c.2310T>C (p.His770=) c.2157T>C (p.His719=) c.2133T>C (p.His711=) c.2265T>C (p.His755=) c.2283T>C (p.His761=) n.258T>C c.1746T>C (p.His582=) c.2163T>C (p.His721=) n.2316T>C n.2317T>C n.3560T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34240787A>T | CA391619811 | SLC12A6 | c.2310T>A (p.His770Gln) c.2157T>A (p.His719Gln) c.2133T>A (p.His711Gln) c.2265T>A (p.His755Gln) c.2283T>A (p.His761Gln) n.258T>A c.1746T>A (p.His582Gln) c.2163T>A (p.His721Gln) n.2316T>A n.2317T>A n.3560T>A | |
| 15 | g.34240788T>A | CA391619813 | SLC12A6 | c.2309A>T (p.His770Leu) c.2156A>T (p.His719Leu) c.2132A>T (p.His711Leu) c.2264A>T (p.His755Leu) c.2282A>T (p.His761Leu) n.257A>T c.1745A>T (p.His582Leu) c.2162A>T (p.His721Leu) n.2315A>T n.2316A>T n.3559A>T | |
| 15 | g.34240788T>C | CA391619814 | SLC12A6 | c.2309A>G (p.His770Arg) c.2156A>G (p.His719Arg) c.2132A>G (p.His711Arg) c.2264A>G (p.His755Arg) c.2282A>G (p.His761Arg) n.257A>G c.1745A>G (p.His582Arg) c.2162A>G (p.His721Arg) n.2315A>G n.2316A>G n.3559A>G | |
| 15 | g.34240788T>G | CA391619812 | SLC12A6 | c.2309A>C (p.His770Pro) c.2156A>C (p.His719Pro) c.2132A>C (p.His711Pro) c.2264A>C (p.His755Pro) c.2282A>C (p.His761Pro) n.257A>C c.1745A>C (p.His582Pro) c.2162A>C (p.His721Pro) n.2315A>C n.2316A>C n.3559A>C | |
| 15 | g.34240789G>A | CA391619815 | SLC12A6 | c.2308C>T (p.His770Tyr) c.2155C>T (p.His719Tyr) c.2131C>T (p.His711Tyr) c.2263C>T (p.His755Tyr) c.2281C>T (p.His761Tyr) n.256C>T c.1744C>T (p.His582Tyr) c.2161C>T (p.His721Tyr) n.2314C>T n.2315C>T n.3558C>T | |
| 15 | g.34240789G>C | CA391619817 | SLC12A6 | c.2308C>G (p.His770Asp) c.2155C>G (p.His719Asp) c.2131C>G (p.His711Asp) c.2263C>G (p.His755Asp) c.2281C>G (p.His761Asp) n.256C>G c.1744C>G (p.His582Asp) c.2161C>G (p.His721Asp) n.2314C>G n.2315C>G n.3558C>G | gnomAD v4 |
| 15 | g.34240789G>T | CA391619816 | SLC12A6 | c.2308C>A (p.His770Asn) c.2155C>A (p.His719Asn) c.2131C>A (p.His711Asn) c.2263C>A (p.His755Asn) c.2281C>A (p.His761Asn) n.256C>A c.1744C>A (p.His582Asn) c.2161C>A (p.His721Asn) n.2314C>A n.2315C>A n.3558C>A | |
| 15 | g.34240790T>A | CA391619818 | SLC12A6 | c.2307A>T (p.Leu769Phe) c.2154A>T (p.Leu718Phe) c.2130A>T (p.Leu710Phe) c.2262A>T (p.Leu754Phe) c.2280A>T (p.Leu760Phe) n.255A>T c.1743A>T (p.Leu581Phe) c.2160A>T (p.Leu720Phe) n.2313A>T n.2314A>T n.3557A>T | |
| 15 | g.34240790T>C | CA489414115 | SLC12A6 | c.2307A>G (p.Leu769=) c.2154A>G (p.Leu718=) c.2130A>G (p.Leu710=) c.2262A>G (p.Leu754=) c.2280A>G (p.Leu760=) n.255A>G c.1743A>G (p.Leu581=) c.2160A>G (p.Leu720=) n.2313A>G n.2314A>G n.3557A>G | |
| 15 | g.34240790T>G | CA391619819 | SLC12A6 | c.2307A>C (p.Leu769Phe) c.2154A>C (p.Leu718Phe) c.2130A>C (p.Leu710Phe) c.2262A>C (p.Leu754Phe) c.2280A>C (p.Leu760Phe) n.255A>C c.1743A>C (p.Leu581Phe) c.2160A>C (p.Leu720Phe) n.2313A>C n.2314A>C n.3557A>C | |
| 15 | g.34240790dup | CA2627636113 | SLC12A6 | c.2307dup (p.His770ThrfsTer?) c.2154dup (p.His719ThrfsTer?) c.2130dup (p.His711ThrfsTer?) c.2262dup (p.His755ThrfsTer?) c.2280dup (p.His761ThrfsTer?) n.255dup c.1743dup (p.His582ThrfsTer?) c.2160dup (p.His721ThrfsTer?) n.2313dup n.2314dup n.3557dup | gnomAD v4 |
| 15 | g.34240791A>C | CA391619820 | SLC12A6 | c.2306T>G (p.Leu769Ter) c.2153T>G (p.Leu718Ter) c.2129T>G (p.Leu710Ter) c.2261T>G (p.Leu754Ter) c.2279T>G (p.Leu760Ter) n.254T>G c.1742T>G (p.Leu581Ter) c.2159T>G (p.Leu720Ter) n.2312T>G n.2313T>G n.3556T>G | |
| 15 | g.34240791A>G | CA391619821 | SLC12A6 | c.2306T>C (p.Leu769Ser) c.2153T>C (p.Leu718Ser) c.2129T>C (p.Leu710Ser) c.2261T>C (p.Leu754Ser) c.2279T>C (p.Leu760Ser) n.254T>C c.1742T>C (p.Leu581Ser) c.2159T>C (p.Leu720Ser) n.2312T>C n.2313T>C n.3556T>C | |
| 15 | g.34240791A>T | CA391619822 | SLC12A6 | c.2306T>A (p.Leu769Ter) c.2153T>A (p.Leu718Ter) c.2129T>A (p.Leu710Ter) c.2261T>A (p.Leu754Ter) c.2279T>A (p.Leu760Ter) n.254T>A c.1742T>A (p.Leu581Ter) c.2159T>A (p.Leu720Ter) n.2312T>A n.2313T>A n.3556T>A | |
| 15 | g.34240792A>C | CA268662504 | SLC12A6 | c.2305T>G (p.Leu769Val) c.2152T>G (p.Leu718Val) c.2128T>G (p.Leu710Val) c.2260T>G (p.Leu754Val) c.2278T>G (p.Leu760Val) n.253T>G c.1741T>G (p.Leu581Val) c.2158T>G (p.Leu720Val) n.2311T>G n.2312T>G n.3555T>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.34240792A>G | CA489414122 | SLC12A6 | c.2305T>C (p.Leu769=) c.2152T>C (p.Leu718=) c.2128T>C (p.Leu710=) c.2260T>C (p.Leu754=) c.2278T>C (p.Leu760=) n.253T>C c.1741T>C (p.Leu581=) c.2158T>C (p.Leu720=) n.2311T>C n.2312T>C n.3555T>C | |
| 15 | g.34240792A>T | CA391619823 | SLC12A6 | c.2305T>A (p.Leu769Ile) c.2152T>A (p.Leu718Ile) c.2128T>A (p.Leu710Ile) c.2260T>A (p.Leu754Ile) c.2278T>A (p.Leu760Ile) n.253T>A c.1741T>A (p.Leu581Ile) c.2158T>A (p.Leu720Ile) n.2311T>A n.2312T>A n.3555T>A |