Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56870077C= | CA2224349251 | SLC12A3 | c.602-19C= (n.602-19C=) c.599-19C= (n.599-19C=) | |
16 | g.56870077C>G | CA8069124 | SLC12A3 | c.602-19C>G (n.602-19C>G) c.599-19C>G (n.599-19C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870077C>T | CA622333616 | SLC12A3 | c.602-19C>T (n.602-19C>T) c.599-19C>T (n.599-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870079dup | CA2633370824 | SLC12A3 | c.602-17dup (n.602-17dup) c.599-17dup (n.599-17dup) | gnomAD v4 |
16 | g.56870078C= | CA2224349252 | SLC12A3 | c.602-18C= (n.602-18C=) c.599-18C= (n.599-18C=) | |
16 | g.56870078C>G | CA8069125 | SLC12A3 | c.602-18C>G (n.602-18C>G) c.599-18C>G (n.599-18C>G) | dbSNP ExAC gnomAD v2 |
16 | g.56870079C>A | CA2633370834 | SLC12A3 | c.602-17C>A (n.602-17C>A) c.599-17C>A (n.599-17C>A) | gnomAD v4 |
16 | g.56870079C= | CA2224349253 | SLC12A3 | c.602-17C= (n.602-17C=) c.599-17C= (n.599-17C=) | |
16 | g.56870079C>T | CA8069126 | SLC12A3 | c.602-17C>T (n.602-17C>T) c.599-17C>T (n.599-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870080G>A | CA8069127 | SLC12A3 | c.602-16G>A (n.602-16G>A) c.599-16G>A (n.599-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870080G= | CA2224349254 | SLC12A3 | c.602-16G= (n.602-16G=) c.599-16G= (n.599-16G=) | |
16 | g.56870080G>T | CA2633370849 | SLC12A3 | c.602-16G>T (n.602-16G>T) c.599-16G>T (n.599-16G>T) | gnomAD v4 |
16 | g.56870081G>A | CA622333621 | SLC12A3 | c.602-15G>A (n.602-15G>A) c.599-15G>A (n.599-15G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870081G= | CA2224349255 | SLC12A3 | c.602-15G= (n.602-15G=) c.599-15G= (n.599-15G=) | |
16 | g.56870083T>A | CA2576001910 | SLC12A3 | c.602-13T>A (n.602-13T>A) c.599-13T>A (n.599-13T>A) | |
16 | g.56870083T>C | CA2633370857 | SLC12A3 | c.602-13T>C (n.602-13T>C) c.599-13T>C (n.599-13T>C) | gnomAD v4 |
16 | g.56870085T>A | CA2224349257 | SLC12A3 | c.602-11T>A (n.602-11T>A) c.599-11T>A (n.599-11T>A) | ClinVar dbSNP gnomAD v4 |
16 | g.56870085T= | CA2224349256 | SLC12A3 | c.602-11T= (n.602-11T=) c.599-11T= (n.599-11T=) | |
16 | g.56870086G= | CA2224349258 | SLC12A3 | c.602-10G= (n.602-10G=) c.599-10G= (n.599-10G=) | |
16 | g.56870086G>T | CA2633370865 | SLC12A3 | c.602-10G>T (n.602-10G>T) c.599-10G>T (n.599-10G>T) | gnomAD v4 |
16 | g.56870086_56870087insT | CA2224349259 | SLC12A3 | c.602-10_602-9insT (n.602-10_602-9insT) c.599-10_599-9insT (n.599-10_599-9insT) | dbSNP |
16 | g.56870087C= | CA2224349260 | SLC12A3 | c.602-9C= (n.602-9C=) c.599-9C= (n.599-9C=) | |
16 | g.56870087C>T | CA622333623 | SLC12A3 | c.602-9C>T (n.602-9C>T) c.599-9C>T (n.599-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870089del | CA2633370869 | SLC12A3 | c.602-7del (n.602-7del) c.599-7del (n.599-7del) | gnomAD v4 |
16 | g.56870088C= | CA2224349261 | SLC12A3 | c.602-8C= (n.602-8C=) c.599-8C= (n.599-8C=) | |
16 | g.56870088C>T | CA622333625 | SLC12A3 | c.602-8C>T (n.602-8C>T) c.599-8C>T (n.599-8C>T) | dbSNP gnomAD v2 |
16 | g.56870090T>C | CA2580091683 | SLC12A3 | c.602-6T>C (n.602-6T>C) c.599-6T>C (n.599-6T>C) | ClinVar gnomAD v4 |
16 | g.56870091G>A | CA2739266788 | SLC12A3 | c.602-5G>A (n.602-5G>A) c.599-5G>A (n.599-5G>A) | ClinVar |
16 | g.56870091G>T | CA2576001912 | SLC12A3 | c.602-5G>T (n.602-5G>T) c.599-5G>T (n.599-5G>T) | gnomAD v4 |
16 | g.56870092A= | CA2224349262 | SLC12A3 | c.602-4A= (n.602-4A=) c.599-4A= (n.599-4A=) | |
16 | g.56870092A>G | CA2633370883 | SLC12A3 | c.602-4A>G (n.602-4A>G) c.599-4A>G (n.599-4A>G) | gnomAD v4 |
16 | g.56870092A>T | CA8069128 | SLC12A3 | c.602-4A>T (n.602-4A>T) c.599-4A>T (n.599-4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870094A= | CA2224349263 | SLC12A3 | c.602-2A= (n.602-2A=) c.599-2A= (n.599-2A=) | |
16 | g.56870094A>C | CA395981390 | SLC12A3 | c.602-2A>C (n.602-2A>C) c.599-2A>C (n.599-2A>C) | |
16 | g.56870094A>G | CA8069129 | SLC12A3 | c.602-2A>G (n.602-2A>G) c.599-2A>G (n.599-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870094A>T | CA395981388 | SLC12A3 | c.602-2A>T (n.602-2A>T) c.599-2A>T (n.599-2A>T) | |
16 | g.56870095G>A | CA395981394 | SLC12A3 | c.602-1G>A (n.602-1G>A) c.599-1G>A (n.599-1G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.56870095G>C | CA395981398 | SLC12A3 | c.602-1G>C (n.602-1G>C) c.599-1G>C (n.599-1G>C) | |
16 | g.56870095G= | CA2224349264 | SLC12A3 | c.602-1G= (n.602-1G=) c.599-1G= (n.599-1G=) | |
16 | g.56870095G>T | CA395981403 | SLC12A3 | c.602-1G>T (n.602-1G>T) c.599-1G>T (n.599-1G>T) | gnomAD v4 |
16 | g.56870096G>A | CA395981409 | SLC12A3 | c.602G>A (p.Gly201Asp) c.599G>A (p.Gly200Asp) | |
16 | g.56870096G>C | CA395981413 | SLC12A3 | c.602G>C (p.Gly201Ala) c.599G>C (p.Gly200Ala) | |
16 | g.56870096G>T | CA395981416 | SLC12A3 | c.602G>T (p.Gly201Val) c.599G>T (p.Gly200Val) | ClinVar dbSNP |
16 | g.56870097T>A | CA495602954 | SLC12A3 | c.603T>A (p.Gly201=) c.600T>A (p.Gly200=) | |
16 | g.56870097T>C | CA495602955 | SLC12A3 | c.603T>C (p.Gly201=) c.600T>C (p.Gly200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870097T>G | CA495602956 | SLC12A3 | c.603T>G (p.Gly201=) c.600T>G (p.Gly200=) | |
16 | g.56870097T= | CA2224349265 | SLC12A3 | c.603T= (p.Gly201=) c.600T= (p.Gly200=) | |
16 | g.56870098G>A | CA395981429 | SLC12A3 | c.604G>A (p.Gly202Ser) c.601G>A (p.Gly201Ser) | |
16 | g.56870098G>C | CA395981425 | SLC12A3 | c.604G>C (p.Gly202Arg) c.601G>C (p.Gly201Arg) | |
16 | g.56870098G>T | CA395981420 | SLC12A3 | c.604G>T (p.Gly202Cys) c.601G>T (p.Gly201Cys) | |
16 | g.56870099G>A | CA8069130 | SLC12A3 | c.605G>A (p.Gly202Asp) c.602G>A (p.Gly201Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870099G>C | CA395981431 | SLC12A3 | c.605G>C (p.Gly202Ala) c.602G>C (p.Gly201Ala) | |
16 | g.56870099G= | CA2224349266 | SLC12A3 | c.605G= (p.Gly202=) c.602G= (p.Gly201=) | |
16 | g.56870099G>T | CA395981432 | SLC12A3 | c.605G>T (p.Gly202Val) c.602G>T (p.Gly201Val) | gnomAD v4 COSMIC |
16 | g.56870100C>A | CA495602957 | SLC12A3 | c.606C>A (p.Gly202=) c.603C>A (p.Gly201=) | |
16 | g.56870100C>G | CA495602958 | SLC12A3 | c.606C>G (p.Gly202=) c.603C>G (p.Gly201=) | |
16 | g.56870100C>T | CA495602959 | SLC12A3 | c.606C>T (p.Gly202=) c.603C>T (p.Gly201=) | |
16 | g.56870101A>C | CA395981433 | SLC12A3 | c.607A>C (p.Thr203Pro) c.604A>C (p.Thr202Pro) | |
16 | g.56870101A>G | CA395981436 | SLC12A3 | c.607A>G (p.Thr203Ala) c.604A>G (p.Thr202Ala) | gnomAD v4 |
16 | g.56870101A>T | CA395981437 | SLC12A3 | c.607A>T (p.Thr203Ser) c.604A>T (p.Thr202Ser) | |
16 | g.56870102C>A | CA395981439 | SLC12A3 | c.608C>A (p.Thr203Asn) c.605C>A (p.Thr202Asn) | |
16 | g.56870102C>G | CA395981448 | SLC12A3 | c.608C>G (p.Thr203Ser) c.605C>G (p.Thr202Ser) | |
16 | g.56870102C>T | CA395981442 | SLC12A3 | c.608C>T (p.Thr203Ile) c.605C>T (p.Thr202Ile) | gnomAD v4 |
16 | g.56870103C>A | CA495602960 | SLC12A3 | c.609C>A (p.Thr203=) c.606C>A (p.Thr202=) | dbSNP |
16 | g.56870103C= | CA2224349267 | SLC12A3 | c.609C= (p.Thr203=) c.606C= (p.Thr202=) | |
16 | g.56870103C>G | CA495602962 | SLC12A3 | c.609C>G (p.Thr203=) c.606C>G (p.Thr202=) | dbSNP |
16 | g.56870103C>T | CA495602961 | SLC12A3 | c.609C>T (p.Thr203=) c.606C>T (p.Thr202=) | |
16 | g.56870104T>A | CA395981452 | SLC12A3 | c.610T>A (p.Tyr204Asn) c.607T>A (p.Tyr203Asn) | |
16 | g.56870104T>C | CA395981456 | SLC12A3 | c.610T>C (p.Tyr204His) c.607T>C (p.Tyr203His) | |
16 | g.56870104T>G | CA395981462 | SLC12A3 | c.610T>G (p.Tyr204Asp) c.607T>G (p.Tyr203Asp) | |
16 | g.56870105A>C | CA395981466 | SLC12A3 | c.611A>C (p.Tyr204Ser) c.608A>C (p.Tyr203Ser) | |
16 | g.56870105A>G | CA395981471 | SLC12A3 | c.611A>G (p.Tyr204Cys) c.608A>G (p.Tyr203Cys) | |
16 | g.56870105A>T | CA395981478 | SLC12A3 | c.611A>T (p.Tyr204Phe) c.608A>T (p.Tyr203Phe) | |
16 | g.56870106C>A | CA395981482 | SLC12A3 | c.612C>A (p.Tyr204Ter) c.609C>A (p.Tyr203Ter) | gnomAD v4 |
16 | g.56870106C= | CA2224349268 | SLC12A3 | c.612C= (p.Tyr204=) c.609C= (p.Tyr203=) | |
16 | g.56870106C>G | CA395981484 | SLC12A3 | c.612C>G (p.Tyr204Ter) c.609C>G (p.Tyr203Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.56870106C>T | CA495602963 | SLC12A3 | c.612C>T (p.Tyr204=) c.609C>T (p.Tyr203=) | ClinVar dbSNP gnomAD v2 |
16 | g.56870106_56870107delinsCT | CA2224349269 | SLC12A3 | c.612_613delinsCT (p.Tyr204=) c.609_610delinsCT (p.Tyr203=) | |
16 | g.56870107T>A | CA395981490 | SLC12A3 | c.613T>A (p.Phe205Ile) c.610T>A (p.Phe204Ile) | |
16 | g.56870107T>C | CA395981493 | SLC12A3 | c.613T>C (p.Phe205Leu) c.610T>C (p.Phe204Leu) | gnomAD v4 |
16 | g.56870107T>G | CA395981497 | SLC12A3 | c.613T>G (p.Phe205Val) c.610T>G (p.Phe204Val) | |
16 | g.56870108del | CA2224349270 | SLC12A3 | c.614del (p.Phe205SerfsTer?) c.611del (p.Phe204SerfsTer?) | gnomAD v4 |
16 | g.56870108T>A | CA395981500 | SLC12A3 | c.614T>A (p.Phe205Tyr) c.611T>A (p.Phe204Tyr) | |
16 | g.56870108T>C | CA395981503 | SLC12A3 | c.614T>C (p.Phe205Ser) c.611T>C (p.Phe204Ser) | |
16 | g.56870108T>G | CA395981501 | SLC12A3 | c.614T>G (p.Phe205Cys) c.611T>G (p.Phe204Cys) | |
16 | g.56870109C>A | CA395981509 | SLC12A3 | c.615C>A (p.Phe205Leu) c.612C>A (p.Phe204Leu) | |
16 | g.56870109C>G | CA395981510 | SLC12A3 | c.615C>G (p.Phe205Leu) c.612C>G (p.Phe204Leu) | |
16 | g.56870109C>T | CA495602964 | SLC12A3 | c.615C>T (p.Phe205=) c.612C>T (p.Phe204=) | ClinVar COSMIC |
16 | g.56870110C>A | CA395981511 | SLC12A3 | c.616C>A (p.Leu206Ile) c.613C>A (p.Leu205Ile) | |
16 | g.56870110C>G | CA395981512 | SLC12A3 | c.616C>G (p.Leu206Val) c.613C>G (p.Leu205Val) | |
16 | g.56870110C>T | CA395981513 | SLC12A3 | c.616C>T (p.Leu206Phe) c.613C>T (p.Leu205Phe) | gnomAD v4 |
16 | g.56870111T>A | CA395981515 | SLC12A3 | c.617T>A (p.Leu206His) c.614T>A (p.Leu205His) | |
16 | g.56870111T>C | CA395981519 | SLC12A3 | c.617T>C (p.Leu206Pro) c.614T>C (p.Leu205Pro) | |
16 | g.56870111T>G | CA395981521 | SLC12A3 | c.617T>G (p.Leu206Arg) c.614T>G (p.Leu205Arg) | |
16 | g.56870112C>A | CA495602965 | SLC12A3 | c.618C>A (p.Leu206=) c.615C>A (p.Leu205=) | |
16 | g.56870112C= | CA2224349271 | SLC12A3 | c.618C= (p.Leu206=) c.615C= (p.Leu205=) | |
16 | g.56870112C>G | CA495602966 | SLC12A3 | c.618C>G (p.Leu206=) c.615C>G (p.Leu205=) | |
16 | g.56870112C>T | CA495602967 | SLC12A3 | c.618C>T (p.Leu206=) c.615C>T (p.Leu205=) | dbSNP gnomAD v4 |
16 | g.56870113A= | CA2224349272 | SLC12A3 | c.619A= (p.Ile207=) c.616A= (p.Ile206=) | |
16 | g.56870113A>C | CA395981525 | SLC12A3 | c.619A>C (p.Ile207Leu) c.616A>C (p.Ile206Leu) | |
16 | g.56870113A>G | CA395981527 | SLC12A3 | c.619A>G (p.Ile207Val) c.616A>G (p.Ile206Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870113A>T | CA395981530 | SLC12A3 | c.619A>T (p.Ile207Phe) c.616A>T (p.Ile206Phe) | |
16 | g.56870114T>A | CA395981534 | SLC12A3 | c.620T>A (p.Ile207Asn) c.617T>A (p.Ile206Asn) | |
16 | g.56870114T>C | CA395981538 | SLC12A3 | c.620T>C (p.Ile207Thr) c.617T>C (p.Ile206Thr) | |
16 | g.56870114T>G | CA395981542 | SLC12A3 | c.620T>G (p.Ile207Ser) c.617T>G (p.Ile206Ser) | |
16 | g.56870115C>A | CA495602968 | SLC12A3 | c.621C>A (p.Ile207=) c.618C>A (p.Ile206=) | |
16 | g.56870115C>G | CA395981545 | SLC12A3 | c.621C>G (p.Ile207Met) c.618C>G (p.Ile206Met) | |
16 | g.56870115C>T | CA495602969 | SLC12A3 | c.621C>T (p.Ile207=) c.618C>T (p.Ile206=) | |
16 | g.56870116T>A | CA395981557 | SLC12A3 | c.622T>A (p.Ser208Thr) c.619T>A (p.Ser207Thr) | |
16 | g.56870116T>C | CA395981551 | SLC12A3 | c.622T>C (p.Ser208Pro) c.619T>C (p.Ser207Pro) | |
16 | g.56870116T>G | CA395981555 | SLC12A3 | c.622T>G (p.Ser208Ala) c.619T>G (p.Ser207Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870116T= | CA2224349273 | SLC12A3 | c.622T= (p.Ser208=) c.619T= (p.Ser207=) | |
16 | g.56870117C>A | CA395981563 | SLC12A3 | c.623C>A (p.Ser208Tyr) c.620C>A (p.Ser207Tyr) | |
16 | g.56870117C= | CA2224349274 | SLC12A3 | c.623C= (p.Ser208=) c.620C= (p.Ser207=) | |
16 | g.56870117C>G | CA395981565 | SLC12A3 | c.623C>G (p.Ser208Cys) c.620C>G (p.Ser207Cys) | |
16 | g.56870117C>T | CA395981568 | SLC12A3 | c.623C>T (p.Ser208Phe) c.620C>T (p.Ser207Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870118C>A | CA495602970 | SLC12A3 | c.624C>A (p.Ser208=) c.621C>A (p.Ser207=) | |
16 | g.56870118C>G | CA495602971 | SLC12A3 | c.624C>G (p.Ser208=) c.621C>G (p.Ser207=) | |
16 | g.56870118C>T | CA495602972 | SLC12A3 | c.624C>T (p.Ser208=) c.621C>T (p.Ser207=) | COSMIC |
16 | g.56870119C>A | CA495602973 | SLC12A3 | c.625C>A (p.Arg209=) c.622C>A (p.Arg208=) | |
16 | g.56870119C= | CA2224349275 | SLC12A3 | c.625C= (p.Arg209=) c.622C= (p.Arg208=) | |
16 | g.56870119C>G | CA395981572 | SLC12A3 | c.625C>G (p.Arg209Gly) c.622C>G (p.Arg208Gly) | |
16 | g.56870119C>T | CA119768 | SLC12A3 | c.625C>T (p.Arg209Trp) c.622C>T (p.Arg208Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870120G>A | CA8069131 | SLC12A3 | c.626G>A (p.Arg209Gln) c.623G>A (p.Arg208Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870120G>C | CA8069132 | SLC12A3 | c.626G>C (p.Arg209Pro) c.623G>C (p.Arg208Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870120G= | CA2224349276 | SLC12A3 | c.626G= (p.Arg209=) c.623G= (p.Arg208=) | |
16 | g.56870120G>T | CA395981584 | SLC12A3 | c.626G>T (p.Arg209Leu) c.623G>T (p.Arg208Leu) | |
16 | g.56870121G>A | CA495602974 | SLC12A3 | c.627G>A (p.Arg209=) c.624G>A (p.Arg208=) | |
16 | g.56870121G>C | CA495602975 | SLC12A3 | c.627G>C (p.Arg209=) c.624G>C (p.Arg208=) | dbSNP gnomAD v4 |
16 | g.56870121G= | CA2224349277 | SLC12A3 | c.627G= (p.Arg209=) c.624G= (p.Arg208=) | |
16 | g.56870121G>T | CA495602976 | SLC12A3 | c.627G>T (p.Arg209=) c.624G>T (p.Arg208=) | |
16 | g.56870122A>C | CA395981589 | SLC12A3 | c.628A>C (p.Ser210Arg) c.625A>C (p.Ser209Arg) | |
16 | g.56870122A>G | CA395981593 | SLC12A3 | c.628A>G (p.Ser210Gly) c.625A>G (p.Ser209Gly) | |
16 | g.56870122A>T | CA395981596 | SLC12A3 | c.628A>T (p.Ser210Cys) c.625A>T (p.Ser209Cys) | |
16 | g.56870123G>A | CA395981608 | SLC12A3 | c.629G>A (p.Ser210Asn) c.626G>A (p.Ser209Asn) | |
16 | g.56870123G>C | CA395981605 | SLC12A3 | c.629G>C (p.Ser210Thr) c.626G>C (p.Ser209Thr) | |
16 | g.56870123G>T | CA395981603 | SLC12A3 | c.629G>T (p.Ser210Ile) c.626G>T (p.Ser209Ile) | |
16 | g.56870124T>A | CA395981612 | SLC12A3 | c.630T>A (p.Ser210Arg) c.627T>A (p.Ser209Arg) | |
16 | g.56870124T>C | CA495602977 | SLC12A3 | c.630T>C (p.Ser210=) c.627T>C (p.Ser209=) | |
16 | g.56870124T>G | CA395981615 | SLC12A3 | c.630T>G (p.Ser210Arg) c.627T>G (p.Ser209Arg) | |
16 | g.56870125C>A | CA395981618 | SLC12A3 | c.631C>A (p.Leu211Met) c.628C>A (p.Leu210Met) | |
16 | g.56870125C= | CA2224349278 | SLC12A3 | c.631C= (p.Leu211=) c.628C= (p.Leu210=) | |
16 | g.56870125C>G | CA281496760 | SLC12A3 | c.631C>G (p.Leu211Val) c.628C>G (p.Leu210Val) | dbSNP |
16 | g.56870125C>T | CA495602978 | SLC12A3 | c.631C>T (p.Leu211=) c.628C>T (p.Leu210=) | |
16 | g.56870125_56870127delinsCTG | CA2224349279 | SLC12A3 | c.631_633delinsCTG (p.Leu211=) c.628_630delinsCTG (p.Leu210=) | |
16 | g.56870127_56870138del | CA2633371009 | SLC12A3 | c.633_644del (p.Gly212_Leu215del) c.630_641del (p.Gly211_Leu214del) | gnomAD v4 |
16 | g.56870126T>A | CA395981627 | SLC12A3 | c.632T>A (p.Leu211Gln) c.629T>A (p.Leu210Gln) | |
16 | g.56870126T>C | CA395981629 | SLC12A3 | c.632T>C (p.Leu211Pro) c.629T>C (p.Leu210Pro) | gnomAD v4 |
16 | g.56870126T>G | CA395981631 | SLC12A3 | c.632T>G (p.Leu211Arg) c.629T>G (p.Leu210Arg) | |
16 | g.56870126_56870127del | CA2224349280 | SLC12A3 | c.632_633del (p.Leu211ArgfsTer?) c.629_630del (p.Leu210ArgfsTer?) | dbSNP |
16 | g.56870127G>A | CA495602981 | SLC12A3 | c.633G>A (p.Leu211=) c.630G>A (p.Leu210=) | |
16 | g.56870127G>C | CA495602979 | SLC12A3 | c.633G>C (p.Leu211=) c.630G>C (p.Leu210=) | |
16 | g.56870127G>T | CA495602980 | SLC12A3 | c.633G>T (p.Leu211=) c.630G>T (p.Leu210=) | |
16 | g.56870131_56870145del | CA2633371018 | SLC12A3 | c.637_651del (p.Pro213_Gly217del) c.634_648del (p.Pro212_Gly216del) | gnomAD v4 |
16 | g.56870128G>A | CA395981633 | SLC12A3 | c.634G>A (p.Gly212Ser) c.631G>A (p.Gly211Ser) | ClinVar dbSNP |
16 | g.56870128G>C | CA395981636 | SLC12A3 | c.634G>C (p.Gly212Arg) c.631G>C (p.Gly211Arg) | ClinVar gnomAD v4 |
16 | g.56870128G= | CA2224349281 | SLC12A3 | c.634G= (p.Gly212=) c.631G= (p.Gly211=) | |
16 | g.56870128G>T | CA395981638 | SLC12A3 | c.634G>T (p.Gly212Cys) c.631G>T (p.Gly211Cys) | |
16 | g.56870129G>A | CA395981643 | SLC12A3 | c.635G>A (p.Gly212Asp) c.632G>A (p.Gly211Asp) | dbSNP gnomAD v2 |
16 | g.56870129G>C | CA395981646 | SLC12A3 | c.635G>C (p.Gly212Ala) c.632G>C (p.Gly211Ala) | gnomAD v4 |
16 | g.56870129G= | CA2224349282 | SLC12A3 | c.635G= (p.Gly212=) c.632G= (p.Gly211=) | |
16 | g.56870129G>T | CA395981649 | SLC12A3 | c.635G>T (p.Gly212Val) c.632G>T (p.Gly211Val) | ClinVar dbSNP |
16 | g.56870130C>A | CA495602983 | SLC12A3 | c.636C>A (p.Gly212=) c.633C>A (p.Gly211=) | |
16 | g.56870130C>G | CA495602985 | SLC12A3 | c.636C>G (p.Gly212=) c.633C>G (p.Gly211=) | |
16 | g.56870130C>T | CA495602984 | SLC12A3 | c.636C>T (p.Gly212=) c.633C>T (p.Gly211=) | |
16 | g.56870131C>A | CA395981661 | SLC12A3 | c.637C>A (p.Pro213Thr) c.634C>A (p.Pro212Thr) | |
16 | g.56870131C>G | CA395981654 | SLC12A3 | c.637C>G (p.Pro213Ala) c.634C>G (p.Pro212Ala) | |
16 | g.56870131C>T | CA395981658 | SLC12A3 | c.637C>T (p.Pro213Ser) c.634C>T (p.Pro212Ser) | |
16 | g.56870132C>A | CA395981670 | SLC12A3 | c.638C>A (p.Pro213Gln) c.635C>A (p.Pro212Gln) | |
16 | g.56870132C= | CA2224349283 | SLC12A3 | c.638C= (p.Pro213=) c.635C= (p.Pro212=) | |
16 | g.56870132C>G | CA395981673 | SLC12A3 | c.638C>G (p.Pro213Arg) c.635C>G (p.Pro212Arg) | gnomAD v4 |
16 | g.56870132C>T | CA395981678 | SLC12A3 | c.638C>T (p.Pro213Leu) c.635C>T (p.Pro212Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870133A>C | CA495602986 | SLC12A3 | c.639A>C (p.Pro213=) c.636A>C (p.Pro212=) | |
16 | g.56870133A>G | CA495602987 | SLC12A3 | c.639A>G (p.Pro213=) c.636A>G (p.Pro212=) | ClinVar dbSNP gnomAD v4 |
16 | g.56870133A>T | CA495602988 | SLC12A3 | c.639A>T (p.Pro213=) c.636A>T (p.Pro212=) | |
16 | g.56870134G>A | CA8069133 | SLC12A3 | c.640G>A (p.Glu214Lys) c.637G>A (p.Glu213Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870134G>C | CA395981685 | SLC12A3 | c.640G>C (p.Glu214Gln) c.637G>C (p.Glu213Gln) | |
16 | g.56870134G= | CA2224349284 | SLC12A3 | c.640G= (p.Glu214=) c.637G= (p.Glu213=) | |
16 | g.56870134G>T | CA395981696 | SLC12A3 | c.640G>T (p.Glu214Ter) c.637G>T (p.Glu213Ter) | |
16 | g.56870135A>C | CA395981701 | SLC12A3 | c.641A>C (p.Glu214Ala) c.638A>C (p.Glu213Ala) | |
16 | g.56870135A>G | CA395981705 | SLC12A3 | c.641A>G (p.Glu214Gly) c.638A>G (p.Glu213Gly) | |
16 | g.56870135A>T | CA395981708 | SLC12A3 | c.641A>T (p.Glu214Val) c.638A>T (p.Glu213Val) | |
16 | g.56870136G>A | CA495602989 | SLC12A3 | c.642G>A (p.Glu214=) c.639G>A (p.Glu213=) | dbSNP |
16 | g.56870136G>C | CA395981711 | SLC12A3 | c.642G>C (p.Glu214Asp) c.639G>C (p.Glu213Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870136G= | CA2224349285 | SLC12A3 | c.642G= (p.Glu214=) c.639G= (p.Glu213=) | |
16 | g.56870136G>T | CA395981714 | SLC12A3 | c.642G>T (p.Glu214Asp) c.639G>T (p.Glu213Asp) | |
16 | g.56870137C>A | CA395981728 | SLC12A3 | c.643C>A (p.Leu215Ile) c.640C>A (p.Leu214Ile) | |
16 | g.56870137C= | CA2224349286 | SLC12A3 | c.643C= (p.Leu215=) c.640C= (p.Leu214=) | |
16 | g.56870137C>G | CA395981723 | SLC12A3 | c.643C>G (p.Leu215Val) c.640C>G (p.Leu214Val) | dbSNP gnomAD v4 |
16 | g.56870137C>T | CA8069134 | SLC12A3 | c.643C>T (p.Leu215Phe) c.640C>T (p.Leu214Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870138T>A | CA395981733 | SLC12A3 | c.644T>A (p.Leu215His) c.641T>A (p.Leu214His) | |
16 | g.56870138T>C | CA8069135 | SLC12A3 | c.644T>C (p.Leu215Pro) c.641T>C (p.Leu214Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870138T>G | CA395981737 | SLC12A3 | c.644T>G (p.Leu215Arg) c.641T>G (p.Leu214Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870138T= | CA2224349287 | SLC12A3 | c.644T= (p.Leu215=) c.641T= (p.Leu214=) | |
16 | g.56870139T>A | CA495602992 | SLC12A3 | c.645T>A (p.Leu215=) c.642T>A (p.Leu214=) | |
16 | g.56870139T>C | CA495602993 | SLC12A3 | c.645T>C (p.Leu215=) c.642T>C (p.Leu214=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870139T>G | CA495602995 | SLC12A3 | c.645T>G (p.Leu215=) c.642T>G (p.Leu214=) | ClinVar |
16 | g.56870139T= | CA2224349288 | SLC12A3 | c.645T= (p.Leu215=) c.642T= (p.Leu214=) | |
16 | g.56870140G>A | CA395981745 | SLC12A3 | c.646G>A (p.Gly216Arg) c.643G>A (p.Gly215Arg) | |
16 | g.56870140G>C | CA395981751 | SLC12A3 | c.646G>C (p.Gly216Arg) c.643G>C (p.Gly215Arg) | |
16 | g.56870140G>T | CA395981747 | SLC12A3 | c.646G>T (p.Gly216Trp) c.643G>T (p.Gly215Trp) | |
16 | g.56870141G>A | CA395981758 | SLC12A3 | c.647G>A (p.Gly216Glu) c.644G>A (p.Gly215Glu) | ClinVar gnomAD v4 COSMIC |
16 | g.56870141G>C | CA395981761 | SLC12A3 | c.647G>C (p.Gly216Ala) c.644G>C (p.Gly215Ala) | |
16 | g.56870141G>T | CA395981766 | SLC12A3 | c.647G>T (p.Gly216Val) c.644G>T (p.Gly215Val) | |
16 | g.56870142G>A | CA495603076 | SLC12A3 | c.648G>A (p.Gly216=) c.645G>A (p.Gly215=) | dbSNP gnomAD v2 |
16 | g.56870142G>C | CA495603077 | SLC12A3 | c.648G>C (p.Gly216=) c.645G>C (p.Gly215=) | |
16 | g.56870142G= | CA2224349289 | SLC12A3 | c.648G= (p.Gly216=) c.645G= (p.Gly215=) | |
16 | g.56870142G>T | CA495603079 | SLC12A3 | c.648G>T (p.Gly216=) c.645G>T (p.Gly215=) | |
16 | g.56870143G>A | CA395981768 | SLC12A3 | c.649G>A (p.Gly217Ser) c.646G>A (p.Gly216Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870143G>C | CA395981775 | SLC12A3 | c.649G>C (p.Gly217Arg) c.646G>C (p.Gly216Arg) | |
16 | g.56870143G= | CA2224349290 | SLC12A3 | c.649G= (p.Gly217=) c.646G= (p.Gly216=) | |
16 | g.56870143G>T | CA395981779 | SLC12A3 | c.649G>T (p.Gly217Cys) c.646G>T (p.Gly216Cys) | |
16 | g.56870144G>A | CA395981785 | SLC12A3 | c.650G>A (p.Gly217Asp) c.647G>A (p.Gly216Asp) | |
16 | g.56870144G>C | CA395981789 | SLC12A3 | c.650G>C (p.Gly217Ala) c.647G>C (p.Gly216Ala) | |
16 | g.56870144G= | CA2224349291 | SLC12A3 | c.650G= (p.Gly217=) c.647G= (p.Gly216=) | |
16 | g.56870144G>T | CA395981790 | SLC12A3 | c.650G>T (p.Gly217Val) c.647G>T (p.Gly216Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870145C>A | CA495603082 | SLC12A3 | c.651C>A (p.Gly217=) c.648C>A (p.Gly216=) | dbSNP gnomAD v4 |
16 | g.56870145C= | CA2224349292 | SLC12A3 | c.651C= (p.Gly217=) c.648C= (p.Gly216=) | |
16 | g.56870145C>G | CA495603081 | SLC12A3 | c.651C>G (p.Gly217=) c.648C>G (p.Gly216=) | |
16 | g.56870145C>T | CA8069136 | SLC12A3 | c.651C>T (p.Gly217=) c.648C>T (p.Gly216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870146T>A | CA395981793 | SLC12A3 | c.652T>A (p.Ser218Thr) c.649T>A (p.Ser217Thr) | |
16 | g.56870146T>C | CA395981798 | SLC12A3 | c.652T>C (p.Ser218Pro) c.649T>C (p.Ser217Pro) | |
16 | g.56870146T>G | CA395981801 | SLC12A3 | c.652T>G (p.Ser218Ala) c.649T>G (p.Ser217Ala) | gnomAD v4 |
16 | g.56870147C>A | CA395981816 | SLC12A3 | c.653C>A (p.Ser218Tyr) c.650C>A (p.Ser217Tyr) | |
16 | g.56870147C= | CA2224349293 | SLC12A3 | c.653C= (p.Ser218=) c.650C= (p.Ser217=) | |
16 | g.56870147C>G | CA395981811 | SLC12A3 | c.653C>G (p.Ser218Cys) c.650C>G (p.Ser217Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870147C>T | CA395981807 | SLC12A3 | c.653C>T (p.Ser218Phe) c.650C>T (p.Ser217Phe) | gnomAD v4 |
16 | g.56870148C>A | CA495603083 | SLC12A3 | c.654C>A (p.Ser218=) c.651C>A (p.Ser217=) | |
16 | g.56870148C= | CA2224349294 | SLC12A3 | c.654C= (p.Ser218=) c.651C= (p.Ser217=) | |
16 | g.56870148C>G | CA495603085 | SLC12A3 | c.654C>G (p.Ser218=) c.651C>G (p.Ser217=) | |
16 | g.56870148C>T | CA495603084 | SLC12A3 | c.654C>T (p.Ser218=) c.651C>T (p.Ser217=) | dbSNP gnomAD v2 |
16 | g.56870149A>C | CA395981818 | SLC12A3 | c.655A>C (p.Ile219Leu) c.652A>C (p.Ile218Leu) | |
16 | g.56870149A>G | CA395981823 | SLC12A3 | c.655A>G (p.Ile219Val) c.652A>G (p.Ile218Val) | |
16 | g.56870149A>T | CA395981827 | SLC12A3 | c.655A>T (p.Ile219Phe) c.652A>T (p.Ile218Phe) | |
16 | g.56870150T>A | CA395981834 | SLC12A3 | c.656T>A (p.Ile219Asn) c.653T>A (p.Ile218Asn) | |
16 | g.56870150T>C | CA395981838 | SLC12A3 | c.656T>C (p.Ile219Thr) c.653T>C (p.Ile218Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870150T>G | CA395981840 | SLC12A3 | c.656T>G (p.Ile219Ser) c.653T>G (p.Ile218Ser) | |
16 | g.56870150T= | CA2224349295 | SLC12A3 | c.656T= (p.Ile219=) c.653T= (p.Ile218=) | |
16 | g.56870152_56870157del | CA2695223669 | SLC12A3 | c.658_663del (p.Gly220_Leu221del) c.655_660del (p.Gly219_Leu220del) | |
16 | g.56870151C>A | CA495603089 | SLC12A3 | c.657C>A (p.Ile219=) c.654C>A (p.Ile218=) | dbSNP gnomAD v4 |
16 | g.56870151C= | CA2224349296 | SLC12A3 | c.657C= (p.Ile219=) c.654C= (p.Ile218=) | |
16 | g.56870151C>G | CA395981846 | SLC12A3 | c.657C>G (p.Ile219Met) c.654C>G (p.Ile218Met) | |
16 | g.56870151C>T | CA8069137 | SLC12A3 | c.657C>T (p.Ile219=) c.654C>T (p.Ile218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870152G>A | CA395981853 | SLC12A3 | c.658G>A (p.Gly220Ser) c.655G>A (p.Gly219Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870152G>C | CA395981855 | SLC12A3 | c.658G>C (p.Gly220Arg) c.655G>C (p.Gly219Arg) | |
16 | g.56870152G= | CA2224349297 | SLC12A3 | c.658G= (p.Gly220=) c.655G= (p.Gly219=) | |
16 | g.56870152G>T | CA395981857 | SLC12A3 | c.658G>T (p.Gly220Cys) c.655G>T (p.Gly219Cys) | COSMIC |
16 | g.56870153del | CA2499223588 | SLC12A3 | c.659del (p.Gly220AlafsTer?) c.656del (p.Gly219AlafsTer?) | ClinVar dbSNP |
16 | g.56870153G>A | CA395981862 | SLC12A3 | c.659G>A (p.Gly220Asp) c.656G>A (p.Gly219Asp) | |
16 | g.56870153G>C | CA395981865 | SLC12A3 | c.659G>C (p.Gly220Ala) c.656G>C (p.Gly219Ala) | |
16 | g.56870153G>T | CA395981866 | SLC12A3 | c.659G>T (p.Gly220Val) c.656G>T (p.Gly219Val) | |
16 | g.56870154C>A | CA495603095 | SLC12A3 | c.660C>A (p.Gly220=) c.657C>A (p.Gly219=) | |
16 | g.56870154C>G | CA495603096 | SLC12A3 | c.660C>G (p.Gly220=) c.657C>G (p.Gly219=) | |
16 | g.56870154C>T | CA495603097 | SLC12A3 | c.660C>T (p.Gly220=) c.657C>T (p.Gly219=) | |
16 | g.56870155C>A | CA395981875 | SLC12A3 | c.661C>A (p.Leu221Ile) c.658C>A (p.Leu220Ile) | |
16 | g.56870155C>G | CA395981873 | SLC12A3 | c.661C>G (p.Leu221Val) c.658C>G (p.Leu220Val) | |
16 | g.56870155C>T | CA395981870 | SLC12A3 | c.661C>T (p.Leu221Phe) c.658C>T (p.Leu220Phe) | gnomAD v4 |
16 | g.56870156T>A | CA395981878 | SLC12A3 | c.662T>A (p.Leu221His) c.659T>A (p.Leu220His) | |
16 | g.56870156T>C | CA395981881 | SLC12A3 | c.662T>C (p.Leu221Pro) c.659T>C (p.Leu220Pro) | |
16 | g.56870156T>G | CA395981883 | SLC12A3 | c.662T>G (p.Leu221Arg) c.659T>G (p.Leu220Arg) | |
16 | g.56870157C>A | CA495603099 | SLC12A3 | c.663C>A (p.Leu221=) c.660C>A (p.Leu220=) | dbSNP |
16 | g.56870157C>G | CA495603100 | SLC12A3 | c.663C>G (p.Leu221=) c.660C>G (p.Leu220=) | |
16 | g.56870157C>T | CA495603098 | SLC12A3 | c.663C>T (p.Leu221=) c.660C>T (p.Leu220=) | ClinVar |
16 | g.56870158A= | CA2224349298 | SLC12A3 | c.664A= (p.Ile222=) c.661A= (p.Ile221=) | |
16 | g.56870158A>C | CA395981886 | SLC12A3 | c.664A>C (p.Ile222Leu) c.661A>C (p.Ile221Leu) | gnomAD v3 gnomAD v4 |
16 | g.56870158A>G | CA281496768 | SLC12A3 | c.664A>G (p.Ile222Val) c.661A>G (p.Ile221Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870158A>T | CA395981891 | SLC12A3 | c.664A>T (p.Ile222Phe) c.661A>T (p.Ile221Phe) | |
16 | g.56870158_56870160del | CA2695223670 | SLC12A3 | c.664_666del (p.Ile222del) c.661_663del (p.Ile221del) | |
16 | g.56870159T>A | CA395981896 | SLC12A3 | c.665T>A (p.Ile222Asn) c.662T>A (p.Ile221Asn) | |
16 | g.56870159T>C | CA395981898 | SLC12A3 | c.665T>C (p.Ile222Thr) c.662T>C (p.Ile221Thr) | gnomAD v4 |
16 | g.56870159T>G | CA395981901 | SLC12A3 | c.665T>G (p.Ile222Ser) c.662T>G (p.Ile221Ser) | |
16 | g.56870162del | CA2695223671 | SLC12A3 | c.668del (p.Phe223SerfsTer?) c.665del (p.Phe222SerfsTer?) | |
16 | g.56870160T>A | CA495603102 | SLC12A3 | c.666T>A (p.Ile222=) c.663T>A (p.Ile221=) | |
16 | g.56870160T>C | CA495603103 | SLC12A3 | c.666T>C (p.Ile222=) c.663T>C (p.Ile221=) | |
16 | g.56870160T>G | CA395981904 | SLC12A3 | c.666T>G (p.Ile222Met) c.663T>G (p.Ile221Met) | |
16 | g.56870161T>A | CA395981907 | SLC12A3 | c.667T>A (p.Phe223Ile) c.664T>A (p.Phe222Ile) | |
16 | g.56870161T>C | CA395981909 | SLC12A3 | c.667T>C (p.Phe223Leu) c.664T>C (p.Phe222Leu) | |
16 | g.56870161T>G | CA395981910 | SLC12A3 | c.667T>G (p.Phe223Val) c.664T>G (p.Phe222Val) | |
16 | g.56870162T>A | CA395981917 | SLC12A3 | c.668T>A (p.Phe223Tyr) c.665T>A (p.Phe222Tyr) | gnomAD v4 |
16 | g.56870162T>C | CA395981913 | SLC12A3 | c.668T>C (p.Phe223Ser) c.665T>C (p.Phe222Ser) | |
16 | g.56870162T>G | CA395981915 | SLC12A3 | c.668T>G (p.Phe223Cys) c.665T>G (p.Phe222Cys) | |
16 | g.56870163C>A | CA395981919 | SLC12A3 | c.669C>A (p.Phe223Leu) c.666C>A (p.Phe222Leu) | |
16 | g.56870163C= | CA2224349299 | SLC12A3 | c.669C= (p.Phe223=) c.666C= (p.Phe222=) | |
16 | g.56870163C>G | CA395981921 | SLC12A3 | c.669C>G (p.Phe223Leu) c.666C>G (p.Phe222Leu) | |
16 | g.56870163C>T | CA8069138 | SLC12A3 | c.669C>T (p.Phe223=) c.666C>T (p.Phe222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870164G>A | CA8069139 | SLC12A3 | c.670G>A (p.Ala224Thr) c.667G>A (p.Ala223Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870164G>C | CA281496773 | SLC12A3 | c.670G>C (p.Ala224Pro) c.667G>C (p.Ala223Pro) | dbSNP gnomAD v4 |
16 | g.56870164G= | CA2224349301 | SLC12A3 | c.670G= (p.Ala224=) c.667G= (p.Ala223=) | |
16 | g.56870164G>T | CA395981925 | SLC12A3 | c.670G>T (p.Ala224Ser) c.667G>T (p.Ala223Ser) | gnomAD v4 |
16 | g.56870164_56870166delinsGCT | CA2224349300 | SLC12A3 | c.670_672delinsGCT (p.Ala224=) c.667_669delinsGCT (p.Ala223=) | |
16 | g.56870165C>A | CA395981927 | SLC12A3 | c.671C>A (p.Ala224Asp) c.668C>A (p.Ala223Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.56870165C= | CA2224349303 | SLC12A3 | c.671C= (p.Ala224=) c.668C= (p.Ala223=) | |
16 | g.56870165C>G | CA395981928 | SLC12A3 | c.671C>G (p.Ala224Gly) c.668C>G (p.Ala223Gly) | |
16 | g.56870165C>T | CA395981931 | SLC12A3 | c.671C>T (p.Ala224Val) c.668C>T (p.Ala223Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870165_56870166del | CA2224349302 | SLC12A3 | c.671_672del (p.Ala224ValfsTer?) c.668_669del (p.Ala223ValfsTer?) | ClinVar dbSNP gnomAD v4 |
16 | g.56870166T>A | CA495603109 | SLC12A3 | c.672T>A (p.Ala224=) c.669T>A (p.Ala223=) | |
16 | g.56870166T>C | CA495603110 | SLC12A3 | c.672T>C (p.Ala224=) c.669T>C (p.Ala223=) | ClinVar dbSNP |
16 | g.56870166T>G | CA495603111 | SLC12A3 | c.672T>G (p.Ala224=) c.669T>G (p.Ala223=) | |
16 | g.56870167T>A | CA395981933 | SLC12A3 | c.673T>A (p.Phe225Ile) c.670T>A (p.Phe224Ile) | |
16 | g.56870167T>C | CA395981935 | SLC12A3 | c.673T>C (p.Phe225Leu) c.670T>C (p.Phe224Leu) | |
16 | g.56870167T>G | CA395981937 | SLC12A3 | c.673T>G (p.Phe225Val) c.670T>G (p.Phe224Val) | |
16 | g.56870168T>A | CA395981939 | SLC12A3 | c.674T>A (p.Phe225Tyr) c.671T>A (p.Phe224Tyr) | |
16 | g.56870168T>C | CA395981941 | SLC12A3 | c.674T>C (p.Phe225Ser) c.671T>C (p.Phe224Ser) | gnomAD v4 |
16 | g.56870168T>G | CA395981940 | SLC12A3 | c.674T>G (p.Phe225Cys) c.671T>G (p.Phe224Cys) | |
16 | g.56870168_56870169delinsTC | CA2224349304 | SLC12A3 | c.674_675delinsTC (p.Phe225=) c.671_672delinsTC (p.Phe224=) | |
16 | g.56870169del | CA622333933 | SLC12A3 | c.675del (p.Phe225LeufsTer?) c.672del (p.Phe224LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870169C>A | CA395981942 | SLC12A3 | c.675C>A (p.Phe225Leu) c.672C>A (p.Phe224Leu) | |
16 | g.56870169C= | CA2224349305 | SLC12A3 | c.675C= (p.Phe225=) c.672C= (p.Phe224=) | |
16 | g.56870169C>G | CA395981944 | SLC12A3 | c.675C>G (p.Phe225Leu) c.672C>G (p.Phe224Leu) | |
16 | g.56870169C>T | CA8069140 | SLC12A3 | c.675C>T (p.Phe225=) c.672C>T (p.Phe224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870170G>A | CA8069141 | SLC12A3 | c.676G>A (p.Ala226Thr) c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870170G>C | CA395981946 | SLC12A3 | c.676G>C (p.Ala226Pro) c.673G>C (p.Ala225Pro) | |
16 | g.56870170G= | CA2224349306 | SLC12A3 | c.676G= (p.Ala226=) c.673G= (p.Ala225=) | |
16 | g.56870170G>T | CA395981948 | SLC12A3 | c.676G>T (p.Ala226Ser) c.673G>T (p.Ala225Ser) | ClinVar gnomAD v4 |
16 | g.56870171C>A | CA8069142 | SLC12A3 | c.677C>A (p.Ala226Asp) c.674C>A (p.Ala225Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870171C= | CA2224349307 | SLC12A3 | c.677C= (p.Ala226=) c.674C= (p.Ala225=) | |
16 | g.56870171C>G | CA395981951 | SLC12A3 | c.677C>G (p.Ala226Gly) c.674C>G (p.Ala225Gly) | |
16 | g.56870171C>T | CA395981953 | SLC12A3 | c.677C>T (p.Ala226Val) c.674C>T (p.Ala225Val) | |
16 | g.56870171_56870172insA | CA622333937 | SLC12A3 | c.677_678insA (p.Asn227GlnfsTer?) c.674_675insA (p.Asn226GlnfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.56870172C>A | CA495603112 | SLC12A3 | c.678C>A (p.Ala226=) c.675C>A (p.Ala225=) | |
16 | g.56870172C= | CA2224349308 | SLC12A3 | c.678C= (p.Ala226=) c.675C= (p.Ala225=) | |
16 | g.56870172C>G | CA8069143 | SLC12A3 | c.678C>G (p.Ala226=) c.675C>G (p.Ala225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870172C>T | CA495603113 | SLC12A3 | c.678C>T (p.Ala226=) c.675C>T (p.Ala225=) | |
16 | g.56870173A= | CA2224349310 | SLC12A3 | c.679A= (p.Asn227=) c.676A= (p.Asn226=) | |
16 | g.56870173A>C | CA395981954 | SLC12A3 | c.679A>C (p.Asn227His) c.676A>C (p.Asn226His) | |
16 | g.56870173A>G | CA395981955 | SLC12A3 | c.679A>G (p.Asn227Asp) c.676A>G (p.Asn226Asp) | |
16 | g.56870173A>T | CA395981957 | SLC12A3 | c.679A>T (p.Asn227Tyr) c.676A>T (p.Asn226Tyr) | dbSNP |
16 | g.56870173_56870177delinsAATGC | CA2224349309 | SLC12A3 | c.679_683delinsAATGC (p.Asn227=) c.676_680delinsAATGC (p.Asn226=) | |
16 | g.56870174A= | CA2224349311 | SLC12A3 | c.680A= (p.Asn227=) c.677A= (p.Asn226=) | |
16 | g.56870174A>C | CA8069144 | SLC12A3 | c.680A>C (p.Asn227Thr) c.677A>C (p.Asn226Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870174A>G | CA395981960 | SLC12A3 | c.680A>G (p.Asn227Ser) c.677A>G (p.Asn226Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870174A>T | CA395981963 | SLC12A3 | c.680A>T (p.Asn227Ile) c.677A>T (p.Asn226Ile) | |
16 | g.56870174_56870177del | CA622333938 | SLC12A3 | c.680_683del (p.Asn227ThrfsTer?) c.677_680del (p.Asn226ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870175T>A | CA395981965 | SLC12A3 | c.681T>A (p.Asn227Lys) c.678T>A (p.Asn226Lys) | |
16 | g.56870175T>C | CA495603114 | SLC12A3 | c.681T>C (p.Asn227=) c.678T>C (p.Asn226=) | |
16 | g.56870175T>G | CA8069145 | SLC12A3 | c.681T>G (p.Asn227Lys) c.678T>G (p.Asn226Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870175T= | CA2224349312 | SLC12A3 | c.681T= (p.Asn227=) c.678T= (p.Asn226=) | |
16 | g.56870176G>A | CA8069146 | SLC12A3 | c.682G>A (p.Ala228Thr) c.679G>A (p.Ala227Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870176G>C | CA395981968 | SLC12A3 | c.682G>C (p.Ala228Pro) c.679G>C (p.Ala227Pro) | |
16 | g.56870176G= | CA2224349313 | SLC12A3 | c.682G= (p.Ala228=) c.679G= (p.Ala227=) | |
16 | g.56870176G>T | CA395981971 | SLC12A3 | c.682G>T (p.Ala228Ser) c.679G>T (p.Ala227Ser) | |
16 | g.56870177C>A | CA395981973 | SLC12A3 | c.683C>A (p.Ala228Asp) c.680C>A (p.Ala227Asp) | |
16 | g.56870177C>G | CA395981974 | SLC12A3 | c.683C>G (p.Ala228Gly) c.680C>G (p.Ala227Gly) | |
16 | g.56870177C>T | CA395981977 | SLC12A3 | c.683C>T (p.Ala228Val) c.680C>T (p.Ala227Val) | COSMIC |