Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56879563T>A | CA395987330 | SLC12A3 | c.1357T>A (p.Phe453Ile) c.1354T>A (p.Phe452Ile) | |
16 | g.56879563T>C | CA395987329 | SLC12A3 | c.1357T>C (p.Phe453Leu) c.1354T>C (p.Phe452Leu) | |
16 | g.56879563T>G | CA395987327 | SLC12A3 | c.1357T>G (p.Phe453Val) c.1354T>G (p.Phe452Val) | |
16 | g.56879564T>A | CA395987333 | SLC12A3 | c.1358T>A (p.Phe453Tyr) c.1355T>A (p.Phe452Tyr) | |
16 | g.56879564T>C | CA395987335 | SLC12A3 | c.1358T>C (p.Phe453Ser) c.1355T>C (p.Phe452Ser) | |
16 | g.56879564T>G | CA395987338 | SLC12A3 | c.1358T>G (p.Phe453Cys) c.1355T>G (p.Phe452Cys) | |
16 | g.56879565C>A | CA395987342 | SLC12A3 | c.1359C>A (p.Phe453Leu) c.1356C>A (p.Phe452Leu) | |
16 | g.56879565C= | CA2224353945 | SLC12A3 | c.1359C= (p.Phe453=) c.1356C= (p.Phe452=) | |
16 | g.56879565C>G | CA395987345 | SLC12A3 | c.1359C>G (p.Phe453Leu) c.1356C>G (p.Phe452Leu) | |
16 | g.56879565C>T | CA8069441 | SLC12A3 | c.1359C>T (p.Phe453=) c.1356C>T (p.Phe452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56879566G>A | CA8069442 | SLC12A3 | c.1360G>A (p.Ala454Thr) c.1357G>A (p.Ala453Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879566G>C | CA395987349 | SLC12A3 | c.1360G>C (p.Ala454Pro) c.1357G>C (p.Ala453Pro) | gnomAD v4 |
16 | g.56879566G= | CA2224353946 | SLC12A3 | c.1360G= (p.Ala454=) c.1357G= (p.Ala453=) | |
16 | g.56879566G>T | CA395987352 | SLC12A3 | c.1360G>T (p.Ala454Ser) c.1357G>T (p.Ala453Ser) | |
16 | g.56879567C>A | CA8069444 | SLC12A3 | c.1361C>A (p.Ala454Glu) c.1358C>A (p.Ala453Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879567C= | CA2224353947 | SLC12A3 | c.1361C= (p.Ala454=) c.1358C= (p.Ala453=) | |
16 | g.56879567C>G | CA395987358 | SLC12A3 | c.1361C>G (p.Ala454Gly) c.1358C>G (p.Ala453Gly) | |
16 | g.56879567C>T | CA8069443 | SLC12A3 | c.1361C>T (p.Ala454Val) c.1358C>T (p.Ala453Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879568G>A | CA8069445 | SLC12A3 | c.1362G>A (p.Ala454=) c.1359G>A (p.Ala453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879568G>C | CA495603781 | SLC12A3 | c.1362G>C (p.Ala454=) c.1359G>C (p.Ala453=) | |
16 | g.56879568G= | CA2224353948 | SLC12A3 | c.1362G= (p.Ala454=) c.1359G= (p.Ala453=) | |
16 | g.56879568G>T | CA495603782 | SLC12A3 | c.1362G>T (p.Ala454=) c.1359G>T (p.Ala453=) | |
16 | g.56879568_56879569delinsGC | CA2224353949 | SLC12A3 | c.1362_1363delinsGC (p.Ala454=) c.1359_1360delinsGC (p.Ala453=) | |
16 | g.56879569C>A | CA395987369 | SLC12A3 | c.1363C>A (p.Pro455Thr) c.1360C>A (p.Pro454Thr) | |
16 | g.56879569C= | CA2224353951 | SLC12A3 | c.1363C= (p.Pro455=) c.1360C= (p.Pro454=) | |
16 | g.56879569C>G | CA395987372 | SLC12A3 | c.1363C>G (p.Pro455Ala) c.1360C>G (p.Pro454Ala) | |
16 | g.56879569C>T | CA8069446 | SLC12A3 | c.1363C>T (p.Pro455Ser) c.1360C>T (p.Pro454Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879572dup | CA2224353950 | SLC12A3 | c.1366dup (p.Leu456ProfsTer?) c.1363dup (p.Leu455ProfsTer?) | dbSNP |
16 | g.56879572del | CA722009307 | SLC12A3 | c.1366del (p.Leu456Ter) c.1363del (p.Leu455Ter) | dbSNP |
16 | g.56879570C>A | CA395987375 | SLC12A3 | c.1364C>A (p.Pro455His) c.1361C>A (p.Pro454His) | |
16 | g.56879570C>G | CA395987380 | SLC12A3 | c.1364C>G (p.Pro455Arg) c.1361C>G (p.Pro454Arg) | |
16 | g.56879570C>T | CA395987378 | SLC12A3 | c.1364C>T (p.Pro455Leu) c.1361C>T (p.Pro454Leu) | |
16 | g.56879571C>A | CA495603785 | SLC12A3 | c.1365C>A (p.Pro455=) c.1362C>A (p.Pro454=) | |
16 | g.56879571C>G | CA495603783 | SLC12A3 | c.1365C>G (p.Pro455=) c.1362C>G (p.Pro454=) | |
16 | g.56879571C>T | CA495603784 | SLC12A3 | c.1365C>T (p.Pro455=) c.1362C>T (p.Pro454=) | |
16 | g.56879572C>A | CA395987384 | SLC12A3 | c.1366C>A (p.Leu456Met) c.1363C>A (p.Leu455Met) | |
16 | g.56879572C>G | CA395987387 | SLC12A3 | c.1366C>G (p.Leu456Val) c.1363C>G (p.Leu455Val) | |
16 | g.56879572C>T | CA495603786 | SLC12A3 | c.1366C>T (p.Leu456=) c.1363C>T (p.Leu455=) | COSMIC |
16 | g.56879572_56879573delinsCT | CA2224353952 | SLC12A3 | c.1366_1367delinsCT (p.Leu456=) c.1363_1364delinsCT (p.Leu455=) | |
16 | g.56879573del | CA977644008 | SLC12A3 | c.1367del (p.Leu456ArgfsTer?) c.1364del (p.Leu455ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879573T>A | CA395987392 | SLC12A3 | c.1367T>A (p.Leu456Gln) c.1364T>A (p.Leu455Gln) | |
16 | g.56879573T>C | CA395987394 | SLC12A3 | c.1367T>C (p.Leu456Pro) c.1364T>C (p.Leu455Pro) | |
16 | g.56879573T>G | CA395987397 | SLC12A3 | c.1367T>G (p.Leu456Arg) c.1364T>G (p.Leu455Arg) | |
16 | g.56879574G>A | CA8069447 | SLC12A3 | c.1368G>A (p.Leu456=) c.1365G>A (p.Leu455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879574G>C | CA495603788 | SLC12A3 | c.1368G>C (p.Leu456=) c.1365G>C (p.Leu455=) | |
16 | g.56879574G= | CA2224353953 | SLC12A3 | c.1368G= (p.Leu456=) c.1365G= (p.Leu455=) | |
16 | g.56879574G>T | CA495603789 | SLC12A3 | c.1368G>T (p.Leu456=) c.1365G>T (p.Leu455=) | |
16 | g.56879575A>C | CA395987405 | SLC12A3 | c.1369A>C (p.Ile457Leu) c.1366A>C (p.Ile456Leu) | |
16 | g.56879575A>G | CA395987407 | SLC12A3 | c.1369A>G (p.Ile457Val) c.1366A>G (p.Ile456Val) | |
16 | g.56879575A>T | CA395987409 | SLC12A3 | c.1369A>T (p.Ile457Phe) c.1366A>T (p.Ile456Phe) | |
16 | g.56879576T>A | CA395987411 | SLC12A3 | c.1370T>A (p.Ile457Asn) c.1367T>A (p.Ile456Asn) | |
16 | g.56879576T>C | CA395987413 | SLC12A3 | c.1370T>C (p.Ile457Thr) c.1367T>C (p.Ile456Thr) | |
16 | g.56879576T>G | CA395987415 | SLC12A3 | c.1370T>G (p.Ile457Ser) c.1367T>G (p.Ile456Ser) | |
16 | g.56879577C>A | CA495603790 | SLC12A3 | c.1371C>A (p.Ile457=) c.1368C>A (p.Ile456=) | |
16 | g.56879577C= | CA2224353954 | SLC12A3 | c.1371C= (p.Ile457=) c.1368C= (p.Ile456=) | |
16 | g.56879577C>G | CA395987419 | SLC12A3 | c.1371C>G (p.Ile457Met) c.1368C>G (p.Ile456Met) | |
16 | g.56879577C>T | CA495603791 | SLC12A3 | c.1371C>T (p.Ile457=) c.1368C>T (p.Ile456=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879578A>C | CA395987423 | SLC12A3 | c.1372A>C (p.Thr458Pro) c.1369A>C (p.Thr457Pro) | |
16 | g.56879578A>G | CA395987425 | SLC12A3 | c.1372A>G (p.Thr458Ala) c.1369A>G (p.Thr457Ala) | |
16 | g.56879578A>T | CA395987428 | SLC12A3 | c.1372A>T (p.Thr458Ser) c.1369A>T (p.Thr457Ser) | |
16 | g.56879579del | CA2633380969 | SLC12A3 | c.1373del (p.Thr458ArgfsTer?) c.1370del (p.Thr457ArgfsTer?) | gnomAD v4 |
16 | g.56879579C>A | CA395987433 | SLC12A3 | c.1373C>A (p.Thr458Lys) c.1370C>A (p.Thr457Lys) | |
16 | g.56879579C= | CA2224353955 | SLC12A3 | c.1373C= (p.Thr458=) c.1370C= (p.Thr457=) | |
16 | g.56879579C>G | CA395987435 | SLC12A3 | c.1373C>G (p.Thr458Arg) c.1370C>G (p.Thr457Arg) | |
16 | g.56879579C>T | CA8069448 | SLC12A3 | c.1373C>T (p.Thr458Met) c.1370C>T (p.Thr457Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879580G>A | CA8069449 | SLC12A3 | c.1374G>A (p.Thr458=) c.1371G>A (p.Thr457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879580G>C | CA495603792 | SLC12A3 | c.1374G>C (p.Thr458=) c.1371G>C (p.Thr457=) | dbSNP |
16 | g.56879580G= | CA2224353956 | SLC12A3 | c.1374G= (p.Thr458=) c.1371G= (p.Thr457=) | |
16 | g.56879580G>T | CA495603793 | SLC12A3 | c.1374G>T (p.Thr458=) c.1371G>T (p.Thr457=) | |
16 | g.56879581G>A | CA395987443 | SLC12A3 | c.1375G>A (p.Ala459Thr) c.1372G>A (p.Ala458Thr) | |
16 | g.56879581G>C | CA395987446 | SLC12A3 | c.1375G>C (p.Ala459Pro) c.1372G>C (p.Ala458Pro) | |
16 | g.56879581G= | CA2224353957 | SLC12A3 | c.1375G= (p.Ala459=) c.1372G= (p.Ala458=) | |
16 | g.56879581G>T | CA395987448 | SLC12A3 | c.1375G>T (p.Ala459Ser) c.1372G>T (p.Ala458Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879582C>A | CA395987452 | SLC12A3 | c.1376C>A (p.Ala459Asp) c.1373C>A (p.Ala458Asp) | |
16 | g.56879582C>G | CA395987454 | SLC12A3 | c.1376C>G (p.Ala459Gly) c.1373C>G (p.Ala458Gly) | |
16 | g.56879582C>T | CA395987457 | SLC12A3 | c.1376C>T (p.Ala459Val) c.1373C>T (p.Ala458Val) | |
16 | g.56879583T>A | CA495603794 | SLC12A3 | c.1377T>A (p.Ala459=) c.1374T>A (p.Ala458=) | |
16 | g.56879583T>C | CA495603795 | SLC12A3 | c.1377T>C (p.Ala459=) c.1374T>C (p.Ala458=) | |
16 | g.56879583T>G | CA495603796 | SLC12A3 | c.1377T>G (p.Ala459=) c.1374T>G (p.Ala458=) | |
16 | g.56879584G>A | CA395987464 | SLC12A3 | c.1378G>A (p.Gly460Ser) c.1375G>A (p.Gly459Ser) | ClinVar dbSNP |
16 | g.56879584G>C | CA395987471 | SLC12A3 | c.1378G>C (p.Gly460Arg) c.1375G>C (p.Gly459Arg) | |
16 | g.56879584G= | CA2224353958 | SLC12A3 | c.1378G= (p.Gly460=) c.1375G= (p.Gly459=) | |
16 | g.56879584G>T | CA395987467 | SLC12A3 | c.1378G>T (p.Gly460Cys) c.1375G>T (p.Gly459Cys) | |
16 | g.56879585del | CA2695223434 | SLC12A3 | c.1379del (p.Gly460AlafsTer?) c.1376del (p.Gly459AlafsTer?) | |
16 | g.56879585G>A | CA395987474 | SLC12A3 | c.1379G>A (p.Gly460Asp) c.1376G>A (p.Gly459Asp) | |
16 | g.56879585G>C | CA395987477 | SLC12A3 | c.1379G>C (p.Gly460Ala) c.1376G>C (p.Gly459Ala) | gnomAD v4 |
16 | g.56879585G= | CA2224353959 | SLC12A3 | c.1379G= (p.Gly460=) c.1376G= (p.Gly459=) | |
16 | g.56879585G>T | CA395987480 | SLC12A3 | c.1379G>T (p.Gly460Val) c.1376G>T (p.Gly459Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879586C>A | CA495603797 | SLC12A3 | c.1380C>A (p.Gly460=) c.1377C>A (p.Gly459=) | |
16 | g.56879586C>G | CA495603798 | SLC12A3 | c.1380C>G (p.Gly460=) c.1377C>G (p.Gly459=) | |
16 | g.56879586C>T | CA495603799 | SLC12A3 | c.1380C>T (p.Gly460=) c.1377C>T (p.Gly459=) | ClinVar |
16 | g.56879587_56879592dup | CA2633380987 | SLC12A3 | c.1381_1386dup (p.Phe462_Gly463insIlePhe) c.1378_1383dup (p.Phe461_Gly462insIlePhe) | gnomAD v4 |
16 | g.56879587A= | CA2224353960 | SLC12A3 | c.1381A= (p.Ile461=) c.1378A= (p.Ile460=) | |
16 | g.56879587A>C | CA395987483 | SLC12A3 | c.1381A>C (p.Ile461Leu) c.1378A>C (p.Ile460Leu) | gnomAD v4 |
16 | g.56879587A>G | CA281501413 | SLC12A3 | c.1381A>G (p.Ile461Val) c.1378A>G (p.Ile460Val) | dbSNP gnomAD v4 |
16 | g.56879587A>T | CA395987488 | SLC12A3 | c.1381A>T (p.Ile461Phe) c.1378A>T (p.Ile460Phe) | |
16 | g.56879588T>A | CA395987493 | SLC12A3 | c.1382T>A (p.Ile461Asn) c.1379T>A (p.Ile460Asn) | |
16 | g.56879588T>C | CA395987495 | SLC12A3 | c.1382T>C (p.Ile461Thr) c.1379T>C (p.Ile460Thr) | |
16 | g.56879588T>G | CA395987499 | SLC12A3 | c.1382T>G (p.Ile461Ser) c.1379T>G (p.Ile460Ser) | |
16 | g.56879588_56879593del | CA2633380993 | SLC12A3 | c.1382_1387del (p.Ile461_Gly463delinsArg) c.1379_1384del (p.Ile460_Gly462delinsArg) | gnomAD v4 |
16 | g.56879589C>A | CA495603800 | SLC12A3 | c.1383C>A (p.Ile461=) c.1380C>A (p.Ile460=) | |
16 | g.56879589C>G | CA395987502 | SLC12A3 | c.1383C>G (p.Ile461Met) c.1380C>G (p.Ile460Met) | |
16 | g.56879589C>T | CA495603801 | SLC12A3 | c.1383C>T (p.Ile461=) c.1380C>T (p.Ile460=) | gnomAD v4 |
16 | g.56879590T>A | CA395987504 | SLC12A3 | c.1384T>A (p.Phe462Ile) c.1381T>A (p.Phe461Ile) | |
16 | g.56879590T>C | CA395987508 | SLC12A3 | c.1384T>C (p.Phe462Leu) c.1381T>C (p.Phe461Leu) | dbSNP gnomAD v4 |
16 | g.56879590T>G | CA395987511 | SLC12A3 | c.1384T>G (p.Phe462Val) c.1381T>G (p.Phe461Val) | |
16 | g.56879590T= | CA2224353961 | SLC12A3 | c.1384T= (p.Phe462=) c.1381T= (p.Phe461=) | |
16 | g.56879591T>A | CA395987515 | SLC12A3 | c.1385T>A (p.Phe462Tyr) c.1382T>A (p.Phe461Tyr) | |
16 | g.56879591T>C | CA395987521 | SLC12A3 | c.1385T>C (p.Phe462Ser) c.1382T>C (p.Phe461Ser) | |
16 | g.56879591T>G | CA395987518 | SLC12A3 | c.1385T>G (p.Phe462Cys) c.1382T>G (p.Phe461Cys) | |
16 | g.56879592C>A | CA395987524 | SLC12A3 | c.1386C>A (p.Phe462Leu) c.1383C>A (p.Phe461Leu) | |
16 | g.56879592C= | CA2224353962 | SLC12A3 | c.1386C= (p.Phe462=) c.1383C= (p.Phe461=) | |
16 | g.56879592C>G | CA395987527 | SLC12A3 | c.1386C>G (p.Phe462Leu) c.1383C>G (p.Phe461Leu) | |
16 | g.56879592C>T | CA8069450 | SLC12A3 | c.1386C>T (p.Phe462=) c.1383C>T (p.Phe461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879593G>A | CA8069451 | SLC12A3 | c.1387G>A (p.Gly463Arg) c.1384G>A (p.Gly462Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879593G>C | CA395987538 | SLC12A3 | c.1387G>C (p.Gly463Arg) c.1384G>C (p.Gly462Arg) | gnomAD v4 |
16 | g.56879593G= | CA2224353963 | SLC12A3 | c.1387G= (p.Gly463=) c.1384G= (p.Gly462=) | |
16 | g.56879593G>T | CA395987541 | SLC12A3 | c.1387G>T (p.Gly463Trp) c.1384G>T (p.Gly462Trp) | |
16 | g.56879596dup | CA2580091681 | SLC12A3 | c.1390dup (p.Ala464GlyfsTer?) c.1387dup (p.Ala463GlyfsTer?) | ClinVar |
16 | g.56879596del | CA2695223435 | SLC12A3 | c.1390del (p.Ala464ProfsTer28) c.1387del (p.Ala463ProfsTer28) | |
16 | g.56879594G>A | CA395987546 | SLC12A3 | c.1388G>A (p.Gly463Glu) c.1385G>A (p.Gly462Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879594G>C | CA395987548 | SLC12A3 | c.1388G>C (p.Gly463Ala) c.1385G>C (p.Gly462Ala) | |
16 | g.56879594G= | CA2224353964 | SLC12A3 | c.1388G= (p.Gly463=) c.1385G= (p.Gly462=) | |
16 | g.56879594G>T | CA395987552 | SLC12A3 | c.1388G>T (p.Gly463Val) c.1385G>T (p.Gly462Val) | |
16 | g.56879595G>A | CA281501421 | SLC12A3 | c.1389G>A (p.Gly463=) c.1386G>A (p.Gly462=) | dbSNP |
16 | g.56879595G>C | CA495603802 | SLC12A3 | c.1389G>C (p.Gly463=) c.1386G>C (p.Gly462=) | |
16 | g.56879595G= | CA2224353965 | SLC12A3 | c.1389G= (p.Gly463=) c.1386G= (p.Gly462=) | |
16 | g.56879595G>T | CA495603803 | SLC12A3 | c.1389G>T (p.Gly463=) c.1386G>T (p.Gly462=) | |
16 | g.56879596G>A | CA8069452 | SLC12A3 | c.1390G>A (p.Ala464Thr) c.1387G>A (p.Ala463Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879596G>C | CA395987562 | SLC12A3 | c.1390G>C (p.Ala464Pro) c.1387G>C (p.Ala463Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879596G= | CA2224353966 | SLC12A3 | c.1390G= (p.Ala464=) c.1387G= (p.Ala463=) | |
16 | g.56879596G>T | CA395987559 | SLC12A3 | c.1390G>T (p.Ala464Ser) c.1387G>T (p.Ala463Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879597C>A | CA395987564 | SLC12A3 | c.1391C>A (p.Ala464Asp) c.1388C>A (p.Ala463Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879597C= | CA2224353967 | SLC12A3 | c.1391C= (p.Ala464=) c.1388C= (p.Ala463=) | |
16 | g.56879597C>G | CA395987570 | SLC12A3 | c.1391C>G (p.Ala464Gly) c.1388C>G (p.Ala463Gly) | |
16 | g.56879597C>T | CA395987567 | SLC12A3 | c.1391C>T (p.Ala464Val) c.1388C>T (p.Ala463Val) | |
16 | g.56879598C>A | CA8069453 | SLC12A3 | c.1392C>A (p.Ala464=) c.1389C>A (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879598C= | CA2224353968 | SLC12A3 | c.1392C= (p.Ala464=) c.1389C= (p.Ala463=) | |
16 | g.56879598C>G | CA495603804 | SLC12A3 | c.1392C>G (p.Ala464=) c.1389C>G (p.Ala463=) | |
16 | g.56879598C>T | CA495603805 | SLC12A3 | c.1392C>T (p.Ala464=) c.1389C>T (p.Ala463=) | |
16 | g.56879599A= | CA2224353969 | SLC12A3 | c.1393A= (p.Thr465=) c.1390A= (p.Thr464=) | |
16 | g.56879599A>C | CA395987577 | SLC12A3 | c.1393A>C (p.Thr465Pro) c.1390A>C (p.Thr464Pro) | dbSNP |
16 | g.56879599A>G | CA395987574 | SLC12A3 | c.1393A>G (p.Thr465Ala) c.1390A>G (p.Thr464Ala) | |
16 | g.56879599A>T | CA395987575 | SLC12A3 | c.1393A>T (p.Thr465Ser) c.1390A>T (p.Thr464Ser) | |
16 | g.56879600C>A | CA8069454 | SLC12A3 | c.1394C>A (p.Thr465Asn) c.1391C>A (p.Thr464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879600C= | CA2224353970 | SLC12A3 | c.1394C= (p.Thr465=) c.1391C= (p.Thr464=) | |
16 | g.56879600C>G | CA395987580 | SLC12A3 | c.1394C>G (p.Thr465Ser) c.1391C>G (p.Thr464Ser) | gnomAD v4 |
16 | g.56879600C>T | CA395987583 | SLC12A3 | c.1394C>T (p.Thr465Ile) c.1391C>T (p.Thr464Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879601_56879602del | CA2633381048 | SLC12A3 | c.1395_1396del (p.Ser467LeufsTer?) c.1392_1393del (p.Ser466LeufsTer?) | gnomAD v4 |
16 | g.56879601C>A | CA8069456 | SLC12A3 | c.1395C>A (p.Thr465=) c.1392C>A (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879601C= | CA2224353971 | SLC12A3 | c.1395C= (p.Thr465=) c.1392C= (p.Thr464=) | |
16 | g.56879601C>G | CA281501434 | SLC12A3 | c.1395C>G (p.Thr465=) c.1392C>G (p.Thr464=) | dbSNP gnomAD v4 |
16 | g.56879601C>T | CA8069455 | SLC12A3 | c.1395C>T (p.Thr465=) c.1392C>T (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879602C>A | CA395987589 | SLC12A3 | c.1396C>A (p.Leu466Ile) c.1393C>A (p.Leu465Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879602C= | CA2224353972 | SLC12A3 | c.1396C= (p.Leu466=) c.1393C= (p.Leu465=) | |
16 | g.56879602C>G | CA281501440 | SLC12A3 | c.1396C>G (p.Leu466Val) c.1393C>G (p.Leu465Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879602C>T | CA395987593 | SLC12A3 | c.1396C>T (p.Leu466Phe) c.1393C>T (p.Leu465Phe) | gnomAD v4 |
16 | g.56879603T>A | CA395987597 | SLC12A3 | c.1397T>A (p.Leu466His) c.1394T>A (p.Leu465His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879603T>C | CA395987600 | SLC12A3 | c.1397T>C (p.Leu466Pro) c.1394T>C (p.Leu465Pro) | |
16 | g.56879603T>G | CA395987603 | SLC12A3 | c.1397T>G (p.Leu466Arg) c.1394T>G (p.Leu465Arg) | |
16 | g.56879603T= | CA2224353973 | SLC12A3 | c.1397T= (p.Leu466=) c.1394T= (p.Leu465=) | |
16 | g.56879604C>A | CA495603806 | SLC12A3 | c.1398C>A (p.Leu466=) c.1395C>A (p.Leu465=) | |
16 | g.56879604C= | CA2224353974 | SLC12A3 | c.1398C= (p.Leu466=) c.1395C= (p.Leu465=) | |
16 | g.56879604C>G | CA495603808 | SLC12A3 | c.1398C>G (p.Leu466=) c.1395C>G (p.Leu465=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879604C>T | CA495603807 | SLC12A3 | c.1398C>T (p.Leu466=) c.1395C>T (p.Leu465=) | dbSNP |
16 | g.56879605T>A | CA395987607 | SLC12A3 | c.1399T>A (p.Ser467Thr) c.1396T>A (p.Ser466Thr) | |
16 | g.56879605T>C | CA395987612 | SLC12A3 | c.1399T>C (p.Ser467Pro) c.1396T>C (p.Ser466Pro) | |
16 | g.56879605T>G | CA395987610 | SLC12A3 | c.1399T>G (p.Ser467Ala) c.1396T>G (p.Ser466Ala) | |
16 | g.56879606C>A | CA395987615 | SLC12A3 | c.1400C>A (p.Ser467Tyr) c.1397C>A (p.Ser466Tyr) | |
16 | g.56879606C= | CA2224353975 | SLC12A3 | c.1400C= (p.Ser467=) c.1397C= (p.Ser466=) | |
16 | g.56879606C>G | CA395987616 | SLC12A3 | c.1400C>G (p.Ser467Cys) c.1397C>G (p.Ser466Cys) | |
16 | g.56879606C>T | CA8069457 | SLC12A3 | c.1400C>T (p.Ser467Phe) c.1397C>T (p.Ser466Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879607C>A | CA495603809 | SLC12A3 | c.1401C>A (p.Ser467=) c.1398C>A (p.Ser466=) | |
16 | g.56879607C>G | CA495603810 | SLC12A3 | c.1401C>G (p.Ser467=) c.1398C>G (p.Ser466=) | |
16 | g.56879607C>T | CA495603811 | SLC12A3 | c.1401C>T (p.Ser467=) c.1398C>T (p.Ser466=) | ClinVar |
16 | g.56879608T>A | CA395987622 | SLC12A3 | c.1402T>A (p.Ser468Thr) c.1399T>A (p.Ser467Thr) | |
16 | g.56879608T>C | CA395987625 | SLC12A3 | c.1402T>C (p.Ser468Pro) c.1399T>C (p.Ser467Pro) | |
16 | g.56879608T>G | CA395987627 | SLC12A3 | c.1402T>G (p.Ser468Ala) c.1399T>G (p.Ser467Ala) | |
16 | g.56879609C>A | CA395987632 | SLC12A3 | c.1403C>A (p.Ser468Tyr) c.1400C>A (p.Ser467Tyr) | |
16 | g.56879609C>G | CA395987635 | SLC12A3 | c.1403C>G (p.Ser468Cys) c.1400C>G (p.Ser467Cys) | |
16 | g.56879609C>T | CA395987639 | SLC12A3 | c.1403C>T (p.Ser468Phe) c.1400C>T (p.Ser467Phe) | |
16 | g.56879610T>A | CA495603812 | SLC12A3 | c.1404T>A (p.Ser468=) c.1401T>A (p.Ser467=) | |
16 | g.56879610T>C | CA495603813 | SLC12A3 | c.1404T>C (p.Ser468=) c.1401T>C (p.Ser467=) | |
16 | g.56879610T>G | CA495603814 | SLC12A3 | c.1404T>G (p.Ser468=) c.1401T>G (p.Ser467=) | |
16 | g.56879611G>A | CA8069458 | SLC12A3 | c.1405G>A (p.Ala469Thr) c.1402G>A (p.Ala468Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879611G>C | CA395987645 | SLC12A3 | c.1405G>C (p.Ala469Pro) c.1402G>C (p.Ala468Pro) | |
16 | g.56879611G= | CA2224353976 | SLC12A3 | c.1405G= (p.Ala469=) c.1402G= (p.Ala468=) | |
16 | g.56879611G>T | CA395987642 | SLC12A3 | c.1405G>T (p.Ala469Ser) c.1402G>T (p.Ala468Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879612C>A | CA395987648 | SLC12A3 | c.1406C>A (p.Ala469Asp) c.1403C>A (p.Ala468Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.56879612C= | CA2224353977 | SLC12A3 | c.1406C= (p.Ala469=) c.1403C= (p.Ala468=) | |
16 | g.56879612C>G | CA395987650 | SLC12A3 | c.1406C>G (p.Ala469Gly) c.1403C>G (p.Ala468Gly) | |
16 | g.56879612C>T | CA8069459 | SLC12A3 | c.1406C>T (p.Ala469Val) c.1403C>T (p.Ala468Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56879613C>A | CA495603817 | SLC12A3 | c.1407C>A (p.Ala469=) c.1404C>A (p.Ala468=) | |
16 | g.56879613C>G | CA495603816 | SLC12A3 | c.1407C>G (p.Ala469=) c.1404C>G (p.Ala468=) | |
16 | g.56879613C>T | CA495603815 | SLC12A3 | c.1407C>T (p.Ala469=) c.1404C>T (p.Ala468=) | COSMIC |
16 | g.56879614C>A | CA395987655 | SLC12A3 | c.1408C>A (p.Leu470Met) c.1405C>A (p.Leu469Met) | gnomAD v4 |
16 | g.56879614C>G | CA395987658 | SLC12A3 | c.1408C>G (p.Leu470Val) c.1405C>G (p.Leu469Val) | |
16 | g.56879614C>T | CA495603818 | SLC12A3 | c.1408C>T (p.Leu470=) c.1405C>T (p.Leu469=) | |
16 | g.56879615T>A | CA395987661 | SLC12A3 | c.1409T>A (p.Leu470Gln) c.1406T>A (p.Leu469Gln) | |
16 | g.56879615T>C | CA395987665 | SLC12A3 | c.1409T>C (p.Leu470Pro) c.1406T>C (p.Leu469Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879615T>G | CA395987668 | SLC12A3 | c.1409T>G (p.Leu470Arg) c.1406T>G (p.Leu469Arg) | |
16 | g.56879615T= | CA2224353978 | SLC12A3 | c.1409T= (p.Leu470=) c.1406T= (p.Leu469=) | |
16 | g.56879616G>A | CA495603819 | SLC12A3 | c.1410G>A (p.Leu470=) c.1407G>A (p.Leu469=) | ClinVar |
16 | g.56879616G>C | CA495603820 | SLC12A3 | c.1410G>C (p.Leu470=) c.1407G>C (p.Leu469=) | |
16 | g.56879616G>T | CA495603821 | SLC12A3 | c.1410G>T (p.Leu470=) c.1407G>T (p.Leu469=) | gnomAD v4 |
16 | g.56879617G>A | CA395987671 | SLC12A3 | c.1411G>A (p.Ala471Thr) c.1408G>A (p.Ala470Thr) | |
16 | g.56879617G>C | CA395987673 | SLC12A3 | c.1411G>C (p.Ala471Pro) c.1408G>C (p.Ala470Pro) | |
16 | g.56879617G>T | CA395987675 | SLC12A3 | c.1411G>T (p.Ala471Ser) c.1408G>T (p.Ala470Ser) | gnomAD v4 |
16 | g.56879618C>A | CA10643902 | SLC12A3 | c.1412C>A (p.Ala471Asp) c.1409C>A (p.Ala470Asp) | ClinVar dbSNP |
16 | g.56879618C= | CA2224353979 | SLC12A3 | c.1412C= (p.Ala471=) c.1409C= (p.Ala470=) | |
16 | g.56879618C>G | CA395987684 | SLC12A3 | c.1412C>G (p.Ala471Gly) c.1409C>G (p.Ala470Gly) | |
16 | g.56879618C>T | CA8069460 | SLC12A3 | c.1412C>T (p.Ala471Val) c.1409C>T (p.Ala470Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879619C>A | CA495603822 | SLC12A3 | c.1413C>A (p.Ala471=) c.1410C>A (p.Ala470=) | |
16 | g.56879619C>G | CA495603823 | SLC12A3 | c.1413C>G (p.Ala471=) c.1410C>G (p.Ala470=) | |
16 | g.56879619C>T | CA495603824 | SLC12A3 | c.1413C>T (p.Ala471=) c.1410C>T (p.Ala470=) | ClinVar gnomAD v4 |
16 | g.56879620T>A | CA395987688 | SLC12A3 | c.1414T>A (p.Cys472Ser) c.1411T>A (p.Cys471Ser) | |
16 | g.56879620T>C | CA395987690 | SLC12A3 | c.1414T>C (p.Cys472Arg) c.1411T>C (p.Cys471Arg) | |
16 | g.56879620T>G | CA395987696 | SLC12A3 | c.1414T>G (p.Cys472Gly) c.1411T>G (p.Cys471Gly) | |
16 | g.56879621G>A | CA395987702 | SLC12A3 | c.1415G>A (p.Cys472Tyr) c.1412G>A (p.Cys471Tyr) | gnomAD v4 |
16 | g.56879621G>C | CA395987709 | SLC12A3 | c.1415G>C (p.Cys472Ser) c.1412G>C (p.Cys471Ser) | |
16 | g.56879621G>T | CA395987711 | SLC12A3 | c.1415G>T (p.Cys472Phe) c.1412G>T (p.Cys471Phe) | |
16 | g.56879622C>A | CA395987721 | SLC12A3 | c.1416C>A (p.Cys472Ter) c.1413C>A (p.Cys471Ter) | |
16 | g.56879622C>G | CA395987724 | SLC12A3 | c.1416C>G (p.Cys472Trp) c.1413C>G (p.Cys471Trp) | |
16 | g.56879622C>T | CA495603825 | SLC12A3 | c.1416C>T (p.Cys472=) c.1413C>T (p.Cys471=) | ClinVar |
16 | g.56879623C>A | CA395987727 | SLC12A3 | c.1417C>A (p.Leu473Ile) c.1414C>A (p.Leu472Ile) | |
16 | g.56879623C= | CA2224353980 | SLC12A3 | c.1417C= (p.Leu473=) c.1414C= (p.Leu472=) | |
16 | g.56879623C>G | CA395987728 | SLC12A3 | c.1417C>G (p.Leu473Val) c.1414C>G (p.Leu472Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879623C>T | CA395987729 | SLC12A3 | c.1417C>T (p.Leu473Phe) c.1414C>T (p.Leu472Phe) | |
16 | g.56879624T>A | CA395987730 | SLC12A3 | c.1418T>A (p.Leu473His) c.1415T>A (p.Leu472His) | |
16 | g.56879624T>C | CA395987735 | SLC12A3 | c.1418T>C (p.Leu473Pro) c.1415T>C (p.Leu472Pro) | |
16 | g.56879624T>G | CA395987738 | SLC12A3 | c.1418T>G (p.Leu473Arg) c.1415T>G (p.Leu472Arg) | |
16 | g.56879625T>A | CA495603826 | SLC12A3 | c.1419T>A (p.Leu473=) c.1416T>A (p.Leu472=) | |
16 | g.56879625T>C | CA495603827 | SLC12A3 | c.1419T>C (p.Leu473=) c.1416T>C (p.Leu472=) | |
16 | g.56879625T>G | CA495603828 | SLC12A3 | c.1419T>G (p.Leu473=) c.1416T>G (p.Leu472=) | |
16 | g.56879626G>A | CA395987750 | SLC12A3 | c.1420G>A (p.Val474Ile) c.1417G>A (p.Val473Ile) | dbSNP |
16 | g.56879626G>C | CA281501454 | SLC12A3 | c.1420G>C (p.Val474Leu) c.1417G>C (p.Val473Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879626G= | CA2224353981 | SLC12A3 | c.1420G= (p.Val474=) c.1417G= (p.Val473=) | |
16 | g.56879626G>T | CA8069461 | SLC12A3 | c.1420G>T (p.Val474Phe) c.1417G>T (p.Val473Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879627del | CA2633381099 | SLC12A3 | c.1421del (p.Val474AlafsTer18) c.1418del (p.Val473AlafsTer18) | gnomAD v4 |
16 | g.56879627T>A | CA395987761 | SLC12A3 | c.1421T>A (p.Val474Asp) c.1418T>A (p.Val473Asp) | |
16 | g.56879627T>C | CA395987757 | SLC12A3 | c.1421T>C (p.Val474Ala) c.1418T>C (p.Val473Ala) | gnomAD v4 |
16 | g.56879627T>G | CA395987760 | SLC12A3 | c.1421T>G (p.Val474Gly) c.1418T>G (p.Val473Gly) | |
16 | g.56879627_56879628insAAG | CA2633381101 | SLC12A3 | c.1421_1422insAAG (p.Val474_Ser475insSer) c.1418_1419insAAG (p.Val473_Ser474insSer) | gnomAD v4 |
16 | g.56879628C>A | CA495603829 | SLC12A3 | c.1422C>A (p.Val474=) c.1419C>A (p.Val473=) | |
16 | g.56879628C>G | CA495603830 | SLC12A3 | c.1422C>G (p.Val474=) c.1419C>G (p.Val473=) | |
16 | g.56879628C>T | CA495603831 | SLC12A3 | c.1422C>T (p.Val474=) c.1419C>T (p.Val473=) | |
16 | g.56879629T>A | CA395987770 | SLC12A3 | c.1423T>A (p.Ser475Thr) c.1420T>A (p.Ser474Thr) | |
16 | g.56879629T>C | CA395987772 | SLC12A3 | c.1423T>C (p.Ser475Pro) c.1420T>C (p.Ser474Pro) | |
16 | g.56879629T>G | CA395987774 | SLC12A3 | c.1423T>G (p.Ser475Ala) c.1420T>G (p.Ser474Ala) | |
16 | g.56879630C>A | CA395987783 | SLC12A3 | c.1424C>A (p.Ser475Tyr) c.1421C>A (p.Ser474Tyr) | |
16 | g.56879630C= | CA2224353982 | SLC12A3 | c.1424C= (p.Ser475=) c.1421C= (p.Ser474=) | |
16 | g.56879630C>G | CA8069462 | SLC12A3 | c.1424C>G (p.Ser475Cys) c.1421C>G (p.Ser474Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879630C>T | CA395987779 | SLC12A3 | c.1424C>T (p.Ser475Phe) c.1421C>T (p.Ser474Phe) | ClinVar |
16 | g.56879631T>A | CA495603832 | SLC12A3 | c.1425T>A (p.Ser475=) c.1422T>A (p.Ser474=) | |
16 | g.56879631T>C | CA495603833 | SLC12A3 | c.1425T>C (p.Ser475=) c.1422T>C (p.Ser474=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879631T>G | CA495603834 | SLC12A3 | c.1425T>G (p.Ser475=) c.1422T>G (p.Ser474=) | gnomAD v4 |
16 | g.56879631T= | CA2224353983 | SLC12A3 | c.1425T= (p.Ser475=) c.1422T= (p.Ser474=) | |
16 | g.56879632G>A | CA395987788 | SLC12A3 | c.1426G>A (p.Ala476Thr) c.1423G>A (p.Ala475Thr) | |
16 | g.56879632G>C | CA395987790 | SLC12A3 | c.1426G>C (p.Ala476Pro) c.1423G>C (p.Ala475Pro) | |
16 | g.56879632G>T | CA395987792 | SLC12A3 | c.1426G>T (p.Ala476Ser) c.1423G>T (p.Ala475Ser) | |
16 | g.56879633C>A | CA395987794 | SLC12A3 | c.1427C>A (p.Ala476Asp) c.1424C>A (p.Ala475Asp) | |
16 | g.56879633C>G | CA395987799 | SLC12A3 | c.1427C>G (p.Ala476Gly) c.1424C>G (p.Ala475Gly) | |
16 | g.56879633C>T | CA395987801 | SLC12A3 | c.1427C>T (p.Ala476Val) c.1424C>T (p.Ala475Val) | |
16 | g.56879634T>A | CA495603835 | SLC12A3 | c.1428T>A (p.Ala476=) c.1425T>A (p.Ala475=) | gnomAD v4 |
16 | g.56879634T>C | CA495603837 | SLC12A3 | c.1428T>C (p.Ala476=) c.1425T>C (p.Ala475=) | ClinVar dbSNP gnomAD v4 |
16 | g.56879634T>G | CA495603836 | SLC12A3 | c.1428T>G (p.Ala476=) c.1425T>G (p.Ala475=) | |
16 | g.56879635G>A | CA216090 | SLC12A3 | c.1429G>A (p.Ala477Thr) c.1426G>A (p.Ala476Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.56879635G>C | CA395987811 | SLC12A3 | c.1429G>C (p.Ala477Pro) c.1426G>C (p.Ala476Pro) | |
16 | g.56879635G= | CA2224353984 | SLC12A3 | c.1429G= (p.Ala477=) c.1426G= (p.Ala476=) | |
16 | g.56879635G>T | CA395987808 | SLC12A3 | c.1429G>T (p.Ala477Ser) c.1426G>T (p.Ala476Ser) | gnomAD v4 |
16 | g.56879636C>A | CA395987816 | SLC12A3 | c.1430C>A (p.Ala477Asp) c.1427C>A (p.Ala476Asp) | |
16 | g.56879636C>G | CA395987817 | SLC12A3 | c.1430C>G (p.Ala477Gly) c.1427C>G (p.Ala476Gly) | |
16 | g.56879636C>T | CA395987819 | SLC12A3 | c.1430C>T (p.Ala477Val) c.1427C>T (p.Ala476Val) | |
16 | g.56879637C>A | CA495603838 | SLC12A3 | c.1431C>A (p.Ala477=) c.1428C>A (p.Ala476=) | gnomAD v4 |
16 | g.56879637C>G | CA495603839 | SLC12A3 | c.1431C>G (p.Ala477=) c.1428C>G (p.Ala476=) | |
16 | g.56879637C>T | CA495603840 | SLC12A3 | c.1431C>T (p.Ala477=) c.1428C>T (p.Ala476=) | |
16 | g.56879638A= | CA2224353985 | SLC12A3 | c.1432A= (p.Lys478=) c.1429A= (p.Lys477=) | |
16 | g.56879638A>C | CA395987821 | SLC12A3 | c.1432A>C (p.Lys478Gln) c.1429A>C (p.Lys477Gln) | |
16 | g.56879638A>G | CA395987823 | SLC12A3 | c.1432A>G (p.Lys478Glu) c.1429A>G (p.Lys477Glu) | dbSNP gnomAD v2 |
16 | g.56879638A>T | CA395987825 | SLC12A3 | c.1432A>T (p.Lys478Ter) c.1429A>T (p.Lys477Ter) | |
16 | g.56879639_56879640del | CA2504701290 | SLC12A3 | c.1433_1434del (p.Lys478SerfsTer?) c.1430_1431del (p.Lys477SerfsTer?) | |
16 | g.56879639A= | CA2224353986 | SLC12A3 | c.1433A= (p.Lys478=) c.1430A= (p.Lys477=) | |
16 | g.56879639A>C | CA395987827 | SLC12A3 | c.1433A>C (p.Lys478Thr) c.1430A>C (p.Lys477Thr) | |
16 | g.56879639A>G | CA395987828 | SLC12A3 | c.1433A>G (p.Lys478Arg) c.1430A>G (p.Lys477Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879639A>T | CA395987830 | SLC12A3 | c.1433A>T (p.Lys478Ile) c.1430A>T (p.Lys477Ile) | |
16 | g.56879640A>C | CA395987832 | SLC12A3 | c.1434A>C (p.Lys478Asn) c.1431A>C (p.Lys477Asn) | |
16 | g.56879640A>G | CA495603841 | SLC12A3 | c.1434A>G (p.Lys478=) c.1431A>G (p.Lys477=) | |
16 | g.56879640A>T | CA395987834 | SLC12A3 | c.1434A>T (p.Lys478Asn) c.1431A>T (p.Lys477Asn) | |
16 | g.56879641G>A | CA395987839 | SLC12A3 | c.1435G>A (p.Val479Ile) c.1432G>A (p.Val478Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879641G>C | CA395987838 | SLC12A3 | c.1435G>C (p.Val479Leu) c.1432G>C (p.Val478Leu) | |
16 | g.56879641G= | CA2224353987 | SLC12A3 | c.1435G= (p.Val479=) c.1432G= (p.Val478=) | |
16 | g.56879641G>T | CA395987836 | SLC12A3 | c.1435G>T (p.Val479Phe) c.1432G>T (p.Val478Phe) | |
16 | g.56879642T>A | CA395987841 | SLC12A3 | c.1436T>A (p.Val479Asp) c.1433T>A (p.Val478Asp) | |
16 | g.56879642T>C | CA395987843 | SLC12A3 | c.1436T>C (p.Val479Ala) c.1433T>C (p.Val478Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879642T>G | CA395987845 | SLC12A3 | c.1436T>G (p.Val479Gly) c.1433T>G (p.Val478Gly) | |
16 | g.56879642T= | CA2224353988 | SLC12A3 | c.1436T= (p.Val479=) c.1433T= (p.Val478=) | |
16 | g.56879643C>A | CA495603842 | SLC12A3 | c.1437C>A (p.Val479=) c.1434C>A (p.Val478=) | |
16 | g.56879643C>G | CA495603843 | SLC12A3 | c.1437C>G (p.Val479=) c.1434C>G (p.Val478=) | |
16 | g.56879643C>T | CA495603844 | SLC12A3 | c.1437C>T (p.Val479=) c.1434C>T (p.Val478=) | |
16 | g.56879643_56879644delinsCT | CA2224353989 | SLC12A3 | c.1437_1438delinsCT (p.Val479=) c.1434_1435delinsCT (p.Val478=) | |
16 | g.56879644T>A | CA395987847 | SLC12A3 | c.1438T>A (p.Phe480Ile) c.1435T>A (p.Phe479Ile) | |
16 | g.56879644T>C | CA395987849 | SLC12A3 | c.1438T>C (p.Phe480Leu) c.1435T>C (p.Phe479Leu) | |
16 | g.56879644T>G | CA395987855 | SLC12A3 | c.1438T>G (p.Phe480Val) c.1435T>G (p.Phe479Val) | |
16 | g.56879645del | CA622336505 | SLC12A3 | c.1439del (p.Phe480SerfsTer12) c.1436del (p.Phe479SerfsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879645T>A | CA395987857 | SLC12A3 | c.1439T>A (p.Phe480Tyr) c.1436T>A (p.Phe479Tyr) | |
16 | g.56879645T>C | CA395987858 | SLC12A3 | c.1439T>C (p.Phe480Ser) c.1436T>C (p.Phe479Ser) | |
16 | g.56879645T>G | CA395987860 | SLC12A3 | c.1439T>G (p.Phe480Cys) c.1436T>G (p.Phe479Cys) | |
16 | g.56879646C>A | CA395987862 | SLC12A3 | c.1440C>A (p.Phe480Leu) c.1437C>A (p.Phe479Leu) | |
16 | g.56879646C= | CA2224353990 | SLC12A3 | c.1440C= (p.Phe480=) c.1437C= (p.Phe479=) | |
16 | g.56879646C>G | CA395987864 | SLC12A3 | c.1440C>G (p.Phe480Leu) c.1437C>G (p.Phe479Leu) | |
16 | g.56879646C>T | CA8069463 | SLC12A3 | c.1440C>T (p.Phe480=) c.1437C>T (p.Phe479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879647C>A | CA395987866 | SLC12A3 | c.1441C>A (p.Gln481Lys) c.1438C>A (p.Gln480Lys) | |
16 | g.56879647C= | CA2224353991 | SLC12A3 | c.1441C= (p.Gln481=) c.1438C= (p.Gln480=) | |
16 | g.56879647C>G | CA395987868 | SLC12A3 | c.1441C>G (p.Gln481Glu) c.1438C>G (p.Gln480Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879647C>T | CA395987865 | SLC12A3 | c.1441C>T (p.Gln481Ter) c.1438C>T (p.Gln480Ter) | |
16 | g.56879648A= | CA2224353992 | SLC12A3 | c.1442A= (p.Gln481=) c.1439A= (p.Gln480=) | |
16 | g.56879648A>C | CA395987870 | SLC12A3 | c.1442A>C (p.Gln481Pro) c.1439A>C (p.Gln480Pro) | |
16 | g.56879648A>G | CA395987872 | SLC12A3 | c.1442A>G (p.Gln481Arg) c.1439A>G (p.Gln480Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879648A>T | CA395987876 | SLC12A3 | c.1442A>T (p.Gln481Leu) c.1439A>T (p.Gln480Leu) | |
16 | g.56879649G>A | CA495603845 | SLC12A3 | c.1443G>A (p.Gln481=) c.1440G>A (p.Gln480=) | |
16 | g.56879649G>C | CA395987879 | SLC12A3 | c.1443G>C (p.Gln481His) c.1440G>C (p.Gln480His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879649G= | CA2224353993 | SLC12A3 | c.1443G= (p.Gln481=) c.1440G= (p.Gln480=) | |
16 | g.56879649G>T | CA395987880 | SLC12A3 | c.1443G>T (p.Gln481His) c.1440G>T (p.Gln480His) | |
16 | g.56879649_56879650insTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTC | CA2633381157 | SLC12A3 | c.1443_1443+1insTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTC (n.1443_1443+1insTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTC) c.1440_1440+1insTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTC (n.1440_1440+1insTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTC) | gnomAD v4 |
16 | g.56879650G>A | CA395987886 | SLC12A3 | c.1443+1G>A (n.1443+1G>A) c.1440+1G>A (n.1440+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879650G>C | CA395987883 | SLC12A3 | c.1443+1G>C (n.1443+1G>C) c.1440+1G>C (n.1440+1G>C) | |
16 | g.56879650G= | CA2224353994 | SLC12A3 | c.1443+1G= (n.1443+1G=) c.1440+1G= (n.1440+1G=) | |
16 | g.56879650G>T | CA395987885 | SLC12A3 | c.1443+1G>T (n.1443+1G>T) c.1440+1G>T (n.1440+1G>T) | |
16 | g.56879651T>A | CA395987888 | SLC12A3 | c.1443+2T>A (n.1443+2T>A) c.1440+2T>A (n.1440+2T>A) | |
16 | g.56879651T>C | CA395987890 | SLC12A3 | c.1443+2T>C (n.1443+2T>C) c.1440+2T>C (n.1440+2T>C) | |
16 | g.56879651T>G | CA395987891 | SLC12A3 | c.1443+2T>G (n.1443+2T>G) c.1440+2T>G (n.1440+2T>G) | |
16 | g.56879652G>A | CA2633381159 | SLC12A3 | c.1443+3G>A (n.1443+3G>A) c.1440+3G>A (n.1440+3G>A) | gnomAD v4 |
16 | g.56879652G>T | CA2633381160 | SLC12A3 | c.1443+3G>T (n.1443+3G>T) c.1440+3G>T (n.1440+3G>T) | gnomAD v4 |
16 | g.56879653A>C | CA2633381162 | SLC12A3 | c.1443+4A>C (n.1443+4A>C) c.1440+4A>C (n.1440+4A>C) | gnomAD v4 |
16 | g.56879654G>A | CA2633381163 | SLC12A3 | c.1443+5G>A (n.1443+5G>A) c.1440+5G>A (n.1440+5G>A) | gnomAD v4 |
16 | g.56879655G>A | CA2576001911 | SLC12A3 | c.1443+6G>A (n.1443+6G>A) c.1440+6G>A (n.1440+6G>A) | |
16 | g.56879655G>T | CA2633381165 | SLC12A3 | c.1443+6G>T (n.1443+6G>T) c.1440+6G>T (n.1440+6G>T) | gnomAD v4 |
16 | g.56879656C>A | CA2633381167 | SLC12A3 | c.1443+7C>A (n.1443+7C>A) c.1440+7C>A (n.1440+7C>A) | gnomAD v4 |
16 | g.56879656C>T | CA2633381168 | SLC12A3 | c.1443+7C>T (n.1443+7C>T) c.1440+7C>T (n.1440+7C>T) | gnomAD v4 |
16 | g.56879657C>A | CA2224353996 | SLC12A3 | c.1443+8C>A (n.1443+8C>A) c.1440+8C>A (n.1440+8C>A) | ClinVar dbSNP gnomAD v4 |
16 | g.56879657C= | CA2224353995 | SLC12A3 | c.1443+8C= (n.1443+8C=) c.1440+8C= (n.1440+8C=) | |
16 | g.56879657C>G | CA2499223594 | SLC12A3 | c.1443+8C>G (n.1443+8C>G) c.1440+8C>G (n.1440+8C>G) | ClinVar dbSNP |
16 | g.56879657C>T | CA8069464 | SLC12A3 | c.1443+8C>T (n.1443+8C>T) c.1440+8C>T (n.1440+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879658G>A | CA8069465 | SLC12A3 | c.1443+9G>A (n.1443+9G>A) c.1440+9G>A (n.1440+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879658G= | CA2224353997 | SLC12A3 | c.1443+9G= (n.1443+9G=) c.1440+9G= (n.1440+9G=) | |
16 | g.56879658G>T | CA8069466 | SLC12A3 | c.1443+9G>T (n.1443+9G>T) c.1440+9G>T (n.1440+9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879659C>A | CA622336506 | SLC12A3 | c.1443+10C>A (n.1443+10C>A) c.1440+10C>A (n.1440+10C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879659C= | CA2224353998 | SLC12A3 | c.1443+10C= (n.1443+10C=) c.1440+10C= (n.1440+10C=) | |
16 | g.56879662A>G | CA2633381175 | SLC12A3 | c.1443+13A>G (n.1443+13A>G) c.1440+13A>G (n.1440+13A>G) | gnomAD v4 |