Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56884077_56884079del | CA8069577 | SLC12A3 | c.1698_1700del (p.Asn566del) c.1695_1697del (p.Asn565del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884079A>C | CA395990383 | SLC12A3 | c.1700A>C (p.Lys567Thr) c.1697A>C (p.Lys566Thr) | |
16 | g.56884079A>G | CA395990385 | SLC12A3 | c.1700A>G (p.Lys567Arg) c.1697A>G (p.Lys566Arg) | |
16 | g.56884079A>T | CA395990381 | SLC12A3 | c.1700A>T (p.Lys567Met) c.1697A>T (p.Lys566Met) | |
16 | g.56884080G>A | CA495604519 | SLC12A3 | c.1701G>A (p.Lys567=) c.1698G>A (p.Lys566=) | ClinVar |
16 | g.56884080G>C | CA395990389 | SLC12A3 | c.1701G>C (p.Lys567Asn) c.1698G>C (p.Lys566Asn) | gnomAD v4 |
16 | g.56884080G>T | CA395990387 | SLC12A3 | c.1701G>T (p.Lys567Asn) c.1698G>T (p.Lys566Asn) | |
16 | g.56884081del | CA2580091700 | SLC12A3 | c.1702del (p.Trp568GlyfsTer?) c.1699del (p.Trp567GlyfsTer?) | ClinVar |
16 | g.56884081T>A | CA395990392 | SLC12A3 | c.1702T>A (p.Trp568Arg) c.1699T>A (p.Trp567Arg) | |
16 | g.56884081T>C | CA8069581 | SLC12A3 | c.1702T>C (p.Trp568Arg) c.1699T>C (p.Trp567Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884081T>G | CA395990394 | SLC12A3 | c.1702T>G (p.Trp568Gly) c.1699T>G (p.Trp567Gly) | |
16 | g.56884081T= | CA2224356171 | SLC12A3 | c.1702T= (p.Trp568=) c.1699T= (p.Trp567=) | |
16 | g.56884082G>A | CA395990396 | SLC12A3 | c.1703G>A (p.Trp568Ter) c.1700G>A (p.Trp567Ter) | ClinVar |
16 | g.56884082G>C | CA395990398 | SLC12A3 | c.1703G>C (p.Trp568Ser) c.1700G>C (p.Trp567Ser) | |
16 | g.56884082G>T | CA395990400 | SLC12A3 | c.1703G>T (p.Trp568Leu) c.1700G>T (p.Trp567Leu) | |
16 | g.56884083G>A | CA395990402 | SLC12A3 | c.1704G>A (p.Trp568Ter) c.1701G>A (p.Trp567Ter) | |
16 | g.56884083G>C | CA395990404 | SLC12A3 | c.1704G>C (p.Trp568Cys) c.1701G>C (p.Trp567Cys) | |
16 | g.56884083G>T | CA395990406 | SLC12A3 | c.1704G>T (p.Trp568Cys) c.1701G>T (p.Trp567Cys) | |
16 | g.56884084G>A | CA395990408 | SLC12A3 | c.1705G>A (p.Ala569Thr) c.1702G>A (p.Ala568Thr) | gnomAD v4 |
16 | g.56884084G>C | CA395990410 | SLC12A3 | c.1705G>C (p.Ala569Pro) c.1702G>C (p.Ala568Pro) | |
16 | g.56884084G>T | CA395990413 | SLC12A3 | c.1705G>T (p.Ala569Ser) c.1702G>T (p.Ala568Ser) | |
16 | g.56884085C>A | CA395990422 | SLC12A3 | c.1706C>A (p.Ala569Glu) c.1703C>A (p.Ala568Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884085C= | CA2224356172 | SLC12A3 | c.1706C= (p.Ala569=) c.1703C= (p.Ala568=) | |
16 | g.56884085C>G | CA395990417 | SLC12A3 | c.1706C>G (p.Ala569Gly) c.1703C>G (p.Ala568Gly) | |
16 | g.56884085C>T | CA8069582 | SLC12A3 | c.1706C>T (p.Ala569Val) c.1703C>T (p.Ala568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56884086G>A | CA8069583 | SLC12A3 | c.1707G>A (p.Ala569=) c.1704G>A (p.Ala568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884086G>C | CA495604520 | SLC12A3 | c.1707G>C (p.Ala569=) c.1704G>C (p.Ala568=) | |
16 | g.56884086G= | CA2224356173 | SLC12A3 | c.1707G= (p.Ala569=) c.1704G= (p.Ala568=) | |
16 | g.56884086G>T | CA495604521 | SLC12A3 | c.1707G>T (p.Ala569=) c.1704G>T (p.Ala568=) | dbSNP |
16 | g.56884087G>A | CA395990427 | SLC12A3 | c.1708G>A (p.Ala570Thr) c.1705G>A (p.Ala569Thr) | dbSNP gnomAD v2 |
16 | g.56884087G>C | CA395990430 | SLC12A3 | c.1708G>C (p.Ala570Pro) c.1705G>C (p.Ala569Pro) | |
16 | g.56884087G= | CA2224356174 | SLC12A3 | c.1708G= (p.Ala570=) c.1705G= (p.Ala569=) | |
16 | g.56884087G>T | CA395990433 | SLC12A3 | c.1708G>T (p.Ala570Ser) c.1705G>T (p.Ala569Ser) | |
16 | g.56884088C>A | CA395990437 | SLC12A3 | c.1709C>A (p.Ala570Glu) c.1706C>A (p.Ala569Glu) | |
16 | g.56884088C= | CA2224356175 | SLC12A3 | c.1709C= (p.Ala570=) c.1706C= (p.Ala569=) | |
16 | g.56884088C>G | CA395990440 | SLC12A3 | c.1709C>G (p.Ala570Gly) c.1706C>G (p.Ala569Gly) | |
16 | g.56884088C>T | CA8069584 | SLC12A3 | c.1709C>T (p.Ala570Val) c.1706C>T (p.Ala569Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884089G>A | CA216092 | SLC12A3 | c.1710G>A (p.Ala570=) c.1707G>A (p.Ala569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884089G>C | CA495604523 | SLC12A3 | c.1710G>C (p.Ala570=) c.1707G>C (p.Ala569=) | |
16 | g.56884089G= | CA2224356176 | SLC12A3 | c.1710G= (p.Ala570=) c.1707G= (p.Ala569=) | |
16 | g.56884089G>T | CA495604524 | SLC12A3 | c.1710G>T (p.Ala570=) c.1707G>T (p.Ala569=) | |
16 | g.56884089_56884106delinsGCTGTTTGGGGCTATCAT | CA2224356177 | SLC12A3 | c.1710_1727delinsGCTGTTTGGGGCTATCAT (p.Ala570=) c.1707_1724delinsGCTGTTTGGGGCTATCAT (p.Ala569=) | |
16 | g.56884090C>A | CA395990447 | SLC12A3 | c.1711C>A (p.Leu571Met) c.1708C>A (p.Leu570Met) | |
16 | g.56884090C= | CA2224356178 | SLC12A3 | c.1711C= (p.Leu571=) c.1708C= (p.Leu570=) | |
16 | g.56884090C>G | CA395990449 | SLC12A3 | c.1711C>G (p.Leu571Val) c.1708C>G (p.Leu570Val) | |
16 | g.56884090C>T | CA8069585 | SLC12A3 | c.1711C>T (p.Leu571=) c.1708C>T (p.Leu570=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884092_56884108del | CA2224356179 | SLC12A3 | c.1713_1729del (p.Phe572ArgfsTer?) c.1710_1726del (p.Phe571ArgfsTer?) | dbSNP |
16 | g.56884091T>A | CA395990458 | SLC12A3 | c.1712T>A (p.Leu571Gln) c.1709T>A (p.Leu570Gln) | |
16 | g.56884091T>C | CA395990456 | SLC12A3 | c.1712T>C (p.Leu571Pro) c.1709T>C (p.Leu570Pro) | dbSNP gnomAD v4 |
16 | g.56884091T>G | CA395990453 | SLC12A3 | c.1712T>G (p.Leu571Arg) c.1709T>G (p.Leu570Arg) | |
16 | g.56884091T= | CA2224356180 | SLC12A3 | c.1712T= (p.Leu571=) c.1709T= (p.Leu570=) | |
16 | g.56884092G>A | CA495604525 | SLC12A3 | c.1713G>A (p.Leu571=) c.1710G>A (p.Leu570=) | |
16 | g.56884092G>C | CA495604526 | SLC12A3 | c.1713G>C (p.Leu571=) c.1710G>C (p.Leu570=) | |
16 | g.56884092G>T | CA495604527 | SLC12A3 | c.1713G>T (p.Leu571=) c.1710G>T (p.Leu570=) | |
16 | g.56884093T>A | CA395990461 | SLC12A3 | c.1714T>A (p.Phe572Ile) c.1711T>A (p.Phe571Ile) | |
16 | g.56884093T>C | CA395990463 | SLC12A3 | c.1714T>C (p.Phe572Leu) c.1711T>C (p.Phe571Leu) | dbSNP gnomAD v2 |
16 | g.56884093T>G | CA395990465 | SLC12A3 | c.1714T>G (p.Phe572Val) c.1711T>G (p.Phe571Val) | |
16 | g.56884093T= | CA2224356181 | SLC12A3 | c.1714T= (p.Phe572=) c.1711T= (p.Phe571=) | |
16 | g.56884094T>A | CA395990468 | SLC12A3 | c.1715T>A (p.Phe572Tyr) c.1712T>A (p.Phe571Tyr) | |
16 | g.56884094T>C | CA395990470 | SLC12A3 | c.1715T>C (p.Phe572Ser) c.1712T>C (p.Phe571Ser) | gnomAD v4 |
16 | g.56884094T>G | CA395990472 | SLC12A3 | c.1715T>G (p.Phe572Cys) c.1712T>G (p.Phe571Cys) | |
16 | g.56884095T>A | CA395990473 | SLC12A3 | c.1716T>A (p.Phe572Leu) c.1713T>A (p.Phe571Leu) | |
16 | g.56884095T>C | CA495604528 | SLC12A3 | c.1716T>C (p.Phe572=) c.1713T>C (p.Phe571=) | |
16 | g.56884095T>G | CA395990474 | SLC12A3 | c.1716T>G (p.Phe572Leu) c.1713T>G (p.Phe571Leu) | gnomAD v4 |
16 | g.56884096G>A | CA395990476 | SLC12A3 | c.1717G>A (p.Gly573Arg) c.1714G>A (p.Gly572Arg) | |
16 | g.56884096G>C | CA395990478 | SLC12A3 | c.1717G>C (p.Gly573Arg) c.1714G>C (p.Gly572Arg) | |
16 | g.56884096G>T | CA395990481 | SLC12A3 | c.1717G>T (p.Gly573Trp) c.1714G>T (p.Gly572Trp) | |
16 | g.56884097G>A | CA281504474 | SLC12A3 | c.1718G>A (p.Gly573Glu) c.1715G>A (p.Gly572Glu) | dbSNP gnomAD v4 |
16 | g.56884097G>C | CA8069586 | SLC12A3 | c.1718G>C (p.Gly573Ala) c.1715G>C (p.Gly572Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884097G= | CA2224356182 | SLC12A3 | c.1718G= (p.Gly573=) c.1715G= (p.Gly572=) | |
16 | g.56884097G>T | CA395990488 | SLC12A3 | c.1718G>T (p.Gly573Val) c.1715G>T (p.Gly572Val) | |
16 | g.56884098G>A | CA8069588 | SLC12A3 | c.1719G>A (p.Gly573=) c.1716G>A (p.Gly572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884098G>C | CA495604529 | SLC12A3 | c.1719G>C (p.Gly573=) c.1716G>C (p.Gly572=) | |
16 | g.56884098G= | CA2224356183 | SLC12A3 | c.1719G= (p.Gly573=) c.1716G= (p.Gly572=) | |
16 | g.56884098G>T | CA8069587 | SLC12A3 | c.1719G>T (p.Gly573=) c.1716G>T (p.Gly572=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884099G>A | CA395990497 | SLC12A3 | c.1720G>A (p.Ala574Thr) c.1717G>A (p.Ala573Thr) | |
16 | g.56884099G>C | CA395990500 | SLC12A3 | c.1720G>C (p.Ala574Pro) c.1717G>C (p.Ala573Pro) | |
16 | g.56884099G= | CA2224356184 | SLC12A3 | c.1720G= (p.Ala574=) c.1717G= (p.Ala573=) | |
16 | g.56884099G>T | CA8069589 | SLC12A3 | c.1720G>T (p.Ala574Ser) c.1717G>T (p.Ala573Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884100C>A | CA395990505 | SLC12A3 | c.1721C>A (p.Ala574Asp) c.1718C>A (p.Ala573Asp) | gnomAD v4 |
16 | g.56884100C>G | CA395990507 | SLC12A3 | c.1721C>G (p.Ala574Gly) c.1718C>G (p.Ala573Gly) | |
16 | g.56884100C>T | CA395990510 | SLC12A3 | c.1721C>T (p.Ala574Val) c.1718C>T (p.Ala573Val) | |
16 | g.56884101T>A | CA495604532 | SLC12A3 | c.1722T>A (p.Ala574=) c.1719T>A (p.Ala573=) | |
16 | g.56884101T>C | CA495604531 | SLC12A3 | c.1722T>C (p.Ala574=) c.1719T>C (p.Ala573=) | |
16 | g.56884101T>G | CA495604530 | SLC12A3 | c.1722T>G (p.Ala574=) c.1719T>G (p.Ala573=) | |
16 | g.56884102A= | CA2224356185 | SLC12A3 | c.1723A= (p.Ile575=) c.1720A= (p.Ile574=) | |
16 | g.56884102A>C | CA395990512 | SLC12A3 | c.1723A>C (p.Ile575Leu) c.1720A>C (p.Ile574Leu) | |
16 | g.56884102A>G | CA8069590 | SLC12A3 | c.1723A>G (p.Ile575Val) c.1720A>G (p.Ile574Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884102A>T | CA395990517 | SLC12A3 | c.1723A>T (p.Ile575Phe) c.1720A>T (p.Ile574Phe) | |
16 | g.56884103T>A | CA395990520 | SLC12A3 | c.1724T>A (p.Ile575Asn) c.1721T>A (p.Ile574Asn) | |
16 | g.56884103T>C | CA395990524 | SLC12A3 | c.1724T>C (p.Ile575Thr) c.1721T>C (p.Ile574Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884103T>G | CA395990526 | SLC12A3 | c.1724T>G (p.Ile575Ser) c.1721T>G (p.Ile574Ser) | |
16 | g.56884103T= | CA2224356186 | SLC12A3 | c.1724T= (p.Ile575=) c.1721T= (p.Ile574=) | |
16 | g.56884104C>A | CA495604533 | SLC12A3 | c.1725C>A (p.Ile575=) c.1722C>A (p.Ile574=) | dbSNP |
16 | g.56884104C= | CA2224356187 | SLC12A3 | c.1725C= (p.Ile575=) c.1722C= (p.Ile574=) | |
16 | g.56884104C>G | CA395990531 | SLC12A3 | c.1725C>G (p.Ile575Met) c.1722C>G (p.Ile574Met) | |
16 | g.56884104C>T | CA495604534 | SLC12A3 | c.1725C>T (p.Ile575=) c.1722C>T (p.Ile574=) | ClinVar gnomAD v4 COSMIC |
16 | g.56884105A= | CA2224356188 | SLC12A3 | c.1726A= (p.Ile576=) c.1723A= (p.Ile575=) | |
16 | g.56884105A>C | CA395990533 | SLC12A3 | c.1726A>C (p.Ile576Leu) c.1723A>C (p.Ile575Leu) | |
16 | g.56884105A>G | CA395990535 | SLC12A3 | c.1726A>G (p.Ile576Val) c.1723A>G (p.Ile575Val) | ClinVar dbSNP |
16 | g.56884105A>T | CA395990532 | SLC12A3 | c.1726A>T (p.Ile576Phe) c.1723A>T (p.Ile575Phe) | |
16 | g.56884106T>A | CA395990541 | SLC12A3 | c.1727T>A (p.Ile576Asn) c.1724T>A (p.Ile575Asn) | |
16 | g.56884106T>C | CA395990538 | SLC12A3 | c.1727T>C (p.Ile576Thr) c.1724T>C (p.Ile575Thr) | |
16 | g.56884106T>G | CA395990543 | SLC12A3 | c.1727T>G (p.Ile576Ser) c.1724T>G (p.Ile575Ser) | |
16 | g.56884107C>A | CA495604536 | SLC12A3 | c.1728C>A (p.Ile576=) c.1725C>A (p.Ile575=) | |
16 | g.56884107C>G | CA395990546 | SLC12A3 | c.1728C>G (p.Ile576Met) c.1725C>G (p.Ile575Met) | |
16 | g.56884107C>T | CA495604535 | SLC12A3 | c.1728C>T (p.Ile576=) c.1725C>T (p.Ile575=) | ClinVar |
16 | g.56884108T>A | CA395990550 | SLC12A3 | c.1729T>A (p.Ser577Thr) c.1726T>A (p.Ser576Thr) | |
16 | g.56884108T>C | CA395990554 | SLC12A3 | c.1729T>C (p.Ser577Pro) c.1726T>C (p.Ser576Pro) | |
16 | g.56884108T>G | CA395990557 | SLC12A3 | c.1729T>G (p.Ser577Ala) c.1726T>G (p.Ser576Ala) | |
16 | g.56884109C>A | CA395990560 | SLC12A3 | c.1730C>A (p.Ser577Tyr) c.1727C>A (p.Ser576Tyr) | |
16 | g.56884109C>G | CA395990563 | SLC12A3 | c.1730C>G (p.Ser577Cys) c.1727C>G (p.Ser576Cys) | |
16 | g.56884109C>T | CA395990566 | SLC12A3 | c.1730C>T (p.Ser577Phe) c.1727C>T (p.Ser576Phe) | |
16 | g.56884110C>A | CA495604537 | SLC12A3 | c.1731C>A (p.Ser577=) c.1728C>A (p.Ser576=) | |
16 | g.56884110C= | CA2224356189 | SLC12A3 | c.1731C= (p.Ser577=) c.1728C= (p.Ser576=) | |
16 | g.56884110C>G | CA495604538 | SLC12A3 | c.1731C>G (p.Ser577=) c.1728C>G (p.Ser576=) | |
16 | g.56884110C>T | CA8069591 | SLC12A3 | c.1731C>T (p.Ser577=) c.1728C>T (p.Ser576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884111G>A | CA8069592 | SLC12A3 | c.1732G>A (p.Val578Met) c.1729G>A (p.Val577Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884111G>C | CA395990572 | SLC12A3 | c.1732G>C (p.Val578Leu) c.1729G>C (p.Val577Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56884111G= | CA2224356190 | SLC12A3 | c.1732G= (p.Val578=) c.1729G= (p.Val577=) | |
16 | g.56884111G>T | CA395990575 | SLC12A3 | c.1732G>T (p.Val578Leu) c.1729G>T (p.Val577Leu) | |
16 | g.56884112T>A | CA395990580 | SLC12A3 | c.1733T>A (p.Val578Glu) c.1730T>A (p.Val577Glu) | |
16 | g.56884112T>C | CA395990582 | SLC12A3 | c.1733T>C (p.Val578Ala) c.1730T>C (p.Val577Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884112T>G | CA395990584 | SLC12A3 | c.1733T>G (p.Val578Gly) c.1730T>G (p.Val577Gly) | |
16 | g.56884112T= | CA2224356191 | SLC12A3 | c.1733T= (p.Val578=) c.1730T= (p.Val577=) | |
16 | g.56884113G>A | CA495604539 | SLC12A3 | c.1734G>A (p.Val578=) c.1731G>A (p.Val577=) | |
16 | g.56884113G>C | CA495604540 | SLC12A3 | c.1734G>C (p.Val578=) c.1731G>C (p.Val577=) | |
16 | g.56884113G>T | CA495604541 | SLC12A3 | c.1734G>T (p.Val578=) c.1731G>T (p.Val577=) | |
16 | g.56884114G>A | CA395990598 | SLC12A3 | c.1735G>A (p.Val579Ile) c.1732G>A (p.Val578Ile) | |
16 | g.56884114G>C | CA395990587 | SLC12A3 | c.1735G>C (p.Val579Leu) c.1732G>C (p.Val578Leu) | |
16 | g.56884114G>T | CA395990589 | SLC12A3 | c.1735G>T (p.Val579Phe) c.1732G>T (p.Val578Phe) | |
16 | g.56884115T>A | CA395990599 | SLC12A3 | c.1736T>A (p.Val579Asp) c.1733T>A (p.Val578Asp) | |
16 | g.56884115T>C | CA395990601 | SLC12A3 | c.1736T>C (p.Val579Ala) c.1733T>C (p.Val578Ala) | |
16 | g.56884115T>G | CA395990603 | SLC12A3 | c.1736T>G (p.Val579Gly) c.1733T>G (p.Val578Gly) | |
16 | g.56884119_56884121del | CA2633373135 | SLC12A3 | c.1740_1742del (p.Ile580del) c.1737_1739del (p.Ile579del) | gnomAD v4 |
16 | g.56884116C>A | CA495604542 | SLC12A3 | c.1737C>A (p.Val579=) c.1734C>A (p.Val578=) | |
16 | g.56884116C>G | CA495604543 | SLC12A3 | c.1737C>G (p.Val579=) c.1734C>G (p.Val578=) | |
16 | g.56884116C>T | CA495604544 | SLC12A3 | c.1737C>T (p.Val579=) c.1734C>T (p.Val578=) | |
16 | g.56884117A>C | CA395990606 | SLC12A3 | c.1738A>C (p.Ile580Leu) c.1735A>C (p.Ile579Leu) | |
16 | g.56884117A>G | CA395990607 | SLC12A3 | c.1738A>G (p.Ile580Val) c.1735A>G (p.Ile579Val) | |
16 | g.56884117A>T | CA395990608 | SLC12A3 | c.1738A>T (p.Ile580Phe) c.1735A>T (p.Ile579Phe) | |
16 | g.56884118del | CA2633373137 | SLC12A3 | c.1739del (p.Ile580ThrfsTer?) c.1736del (p.Ile579ThrfsTer?) | gnomAD v4 |
16 | g.56884118T>A | CA395990609 | SLC12A3 | c.1739T>A (p.Ile580Asn) c.1736T>A (p.Ile579Asn) | |
16 | g.56884118T>C | CA395990611 | SLC12A3 | c.1739T>C (p.Ile580Thr) c.1736T>C (p.Ile579Thr) | gnomAD v4 |
16 | g.56884118T>G | CA395990613 | SLC12A3 | c.1739T>G (p.Ile580Ser) c.1736T>G (p.Ile579Ser) | |
16 | g.56884119del | CA2695223449 | SLC12A3 | c.1740del (p.Met581CysfsTer?) c.1737del (p.Met580CysfsTer?) | |
16 | g.56884119C>A | CA495604545 | SLC12A3 | c.1740C>A (p.Ile580=) c.1737C>A (p.Ile579=) | |
16 | g.56884119C>G | CA395990615 | SLC12A3 | c.1740C>G (p.Ile580Met) c.1737C>G (p.Ile579Met) | |
16 | g.56884119C>T | CA495604546 | SLC12A3 | c.1740C>T (p.Ile580=) c.1737C>T (p.Ile579=) | |
16 | g.56884120A>C | CA395990618 | SLC12A3 | c.1741A>C (p.Met581Leu) c.1738A>C (p.Met580Leu) | |
16 | g.56884120A>G | CA395990620 | SLC12A3 | c.1741A>G (p.Met581Val) c.1738A>G (p.Met580Val) | gnomAD v4 |
16 | g.56884120A>T | CA395990622 | SLC12A3 | c.1741A>T (p.Met581Leu) c.1738A>T (p.Met580Leu) | |
16 | g.56884121T>A | CA281504517 | SLC12A3 | c.1742T>A (p.Met581Lys) c.1739T>A (p.Met580Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.56884121T>C | CA8069593 | SLC12A3 | c.1742T>C (p.Met581Thr) c.1739T>C (p.Met580Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884121T>G | CA395990628 | SLC12A3 | c.1742T>G (p.Met581Arg) c.1739T>G (p.Met580Arg) | |
16 | g.56884121T= | CA2224356192 | SLC12A3 | c.1742T= (p.Met581=) c.1739T= (p.Met580=) | |
16 | g.56884121_56884122delinsTG | CA2224356193 | SLC12A3 | c.1742_1743delinsTG (p.Met581=) c.1739_1740delinsTG (p.Met580=) | |
16 | g.56884122del | CA8069594 | SLC12A3 | c.1743del (p.Met581IlefsTer30) c.1740del (p.Met580IlefsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884122G>A | CA395990632 | SLC12A3 | c.1743G>A (p.Met581Ile) c.1740G>A (p.Met580Ile) | gnomAD v4 |
16 | g.56884122G>C | CA395990634 | SLC12A3 | c.1743G>C (p.Met581Ile) c.1740G>C (p.Met580Ile) | |
16 | g.56884122G>T | CA395990635 | SLC12A3 | c.1743G>T (p.Met581Ile) c.1740G>T (p.Met580Ile) | |
16 | g.56884123T>A | CA395990639 | SLC12A3 | c.1744T>A (p.Phe582Ile) c.1741T>A (p.Phe581Ile) | |
16 | g.56884123T>C | CA395990641 | SLC12A3 | c.1744T>C (p.Phe582Leu) c.1741T>C (p.Phe581Leu) | |
16 | g.56884123T>G | CA395990643 | SLC12A3 | c.1744T>G (p.Phe582Val) c.1741T>G (p.Phe581Val) | |
16 | g.56884124T>A | CA395990644 | SLC12A3 | c.1745T>A (p.Phe582Tyr) c.1742T>A (p.Phe581Tyr) | |
16 | g.56884124T>C | CA395990645 | SLC12A3 | c.1745T>C (p.Phe582Ser) c.1742T>C (p.Phe581Ser) | |
16 | g.56884124T>G | CA395990646 | SLC12A3 | c.1745T>G (p.Phe582Cys) c.1742T>G (p.Phe581Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884124T= | CA2224356194 | SLC12A3 | c.1745T= (p.Phe582=) c.1742T= (p.Phe581=) | |
16 | g.56884125C>A | CA395990648 | SLC12A3 | c.1746C>A (p.Phe582Leu) c.1743C>A (p.Phe581Leu) | |
16 | g.56884125C>G | CA395990649 | SLC12A3 | c.1746C>G (p.Phe582Leu) c.1743C>G (p.Phe581Leu) | |
16 | g.56884125C>T | CA495604547 | SLC12A3 | c.1746C>T (p.Phe582=) c.1743C>T (p.Phe581=) | |
16 | g.56884126C>A | CA395990652 | SLC12A3 | c.1747C>A (p.Leu583Ile) c.1744C>A (p.Leu582Ile) | |
16 | g.56884126C>G | CA395990651 | SLC12A3 | c.1747C>G (p.Leu583Val) c.1744C>G (p.Leu582Val) | |
16 | g.56884126C>T | CA395990650 | SLC12A3 | c.1747C>T (p.Leu583Phe) c.1744C>T (p.Leu582Phe) | |
16 | g.56884127T>A | CA395990653 | SLC12A3 | c.1748T>A (p.Leu583His) c.1745T>A (p.Leu582His) | |
16 | g.56884127T>C | CA395990654 | SLC12A3 | c.1748T>C (p.Leu583Pro) c.1745T>C (p.Leu582Pro) | gnomAD v4 |
16 | g.56884127T>G | CA395990655 | SLC12A3 | c.1748T>G (p.Leu583Arg) c.1745T>G (p.Leu582Arg) | |
16 | g.56884128C>A | CA495604548 | SLC12A3 | c.1749C>A (p.Leu583=) c.1746C>A (p.Leu582=) | |
16 | g.56884128C>G | CA495604549 | SLC12A3 | c.1749C>G (p.Leu583=) c.1746C>G (p.Leu582=) | ClinVar dbSNP gnomAD v4 |
16 | g.56884128C>T | CA495604550 | SLC12A3 | c.1749C>T (p.Leu583=) c.1746C>T (p.Leu582=) | ClinVar gnomAD v4 |
16 | g.56884129C>A | CA395990657 | SLC12A3 | c.1750C>A (p.Leu584Ile) c.1747C>A (p.Leu583Ile) | |
16 | g.56884129C>G | CA395990658 | SLC12A3 | c.1750C>G (p.Leu584Val) c.1747C>G (p.Leu583Val) | |
16 | g.56884129C>T | CA395990660 | SLC12A3 | c.1750C>T (p.Leu584Phe) c.1747C>T (p.Leu583Phe) | |
16 | g.56884130T>A | CA395990663 | SLC12A3 | c.1751T>A (p.Leu584His) c.1748T>A (p.Leu583His) | |
16 | g.56884130T>C | CA395990665 | SLC12A3 | c.1751T>C (p.Leu584Pro) c.1748T>C (p.Leu583Pro) | |
16 | g.56884130T>G | CA395990666 | SLC12A3 | c.1751T>G (p.Leu584Arg) c.1748T>G (p.Leu583Arg) | |
16 | g.56884131C>A | CA495604551 | SLC12A3 | c.1752C>A (p.Leu584=) c.1749C>A (p.Leu583=) | |
16 | g.56884131C= | CA2224356195 | SLC12A3 | c.1752C= (p.Leu584=) c.1749C= (p.Leu583=) | |
16 | g.56884131C>G | CA495604552 | SLC12A3 | c.1752C>G (p.Leu584=) c.1749C>G (p.Leu583=) | |
16 | g.56884131C>T | CA495604553 | SLC12A3 | c.1752C>T (p.Leu584=) c.1749C>T (p.Leu583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884132A>C | CA395990668 | SLC12A3 | c.1753A>C (p.Thr585Pro) c.1750A>C (p.Thr584Pro) | |
16 | g.56884132A>G | CA395990671 | SLC12A3 | c.1753A>G (p.Thr585Ala) c.1750A>G (p.Thr584Ala) | |
16 | g.56884132A>T | CA395990673 | SLC12A3 | c.1753A>T (p.Thr585Ser) c.1750A>T (p.Thr584Ser) | |
16 | g.56884133C>A | CA395990676 | SLC12A3 | c.1754C>A (p.Thr585Asn) c.1751C>A (p.Thr584Asn) | |
16 | g.56884133C>G | CA395990680 | SLC12A3 | c.1754C>G (p.Thr585Ser) c.1751C>G (p.Thr584Ser) | |
16 | g.56884133C>T | CA395990678 | SLC12A3 | c.1754C>T (p.Thr585Ile) c.1751C>T (p.Thr584Ile) | |
16 | g.56884135_56884155dup | CA2499223596 | SLC12A3 | c.1756_1776dup (p.Ala592_Ile593insTrpTrpAlaAlaLeuIleAla) c.1753_1773dup (p.Ala591_Ile592insTrpTrpAlaAlaLeuIleAla) | ClinVar dbSNP |
16 | g.56884134C>A | CA495604554 | SLC12A3 | c.1755C>A (p.Thr585=) c.1752C>A (p.Thr584=) | ClinVar dbSNP |
16 | g.56884134C= | CA2224356196 | SLC12A3 | c.1755C= (p.Thr585=) c.1752C= (p.Thr584=) | |
16 | g.56884134C>G | CA495604555 | SLC12A3 | c.1755C>G (p.Thr585=) c.1752C>G (p.Thr584=) | ClinVar |
16 | g.56884134C>T | CA495604556 | SLC12A3 | c.1755C>T (p.Thr585=) c.1752C>T (p.Thr584=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884135T>A | CA395990683 | SLC12A3 | c.1756T>A (p.Trp586Arg) c.1753T>A (p.Trp585Arg) | |
16 | g.56884135T>C | CA395990686 | SLC12A3 | c.1756T>C (p.Trp586Arg) c.1753T>C (p.Trp585Arg) | gnomAD v4 |
16 | g.56884135T>G | CA8069595 | SLC12A3 | c.1756T>G (p.Trp586Gly) c.1753T>G (p.Trp585Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884135T= | CA2224356197 | SLC12A3 | c.1756T= (p.Trp586=) c.1753T= (p.Trp585=) | |
16 | g.56884136G>A | CA395990689 | SLC12A3 | c.1757G>A (p.Trp586Ter) c.1754G>A (p.Trp585Ter) | |
16 | g.56884136G>C | CA395990691 | SLC12A3 | c.1757G>C (p.Trp586Ser) c.1754G>C (p.Trp585Ser) | |
16 | g.56884136G>T | CA395990693 | SLC12A3 | c.1757G>T (p.Trp586Leu) c.1754G>T (p.Trp585Leu) | |
16 | g.56884137G>A | CA8069596 | SLC12A3 | c.1758G>A (p.Trp586Ter) c.1755G>A (p.Trp585Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884137G>C | CA395990698 | SLC12A3 | c.1758G>C (p.Trp586Cys) c.1755G>C (p.Trp585Cys) | gnomAD v4 |
16 | g.56884137G= | CA2224356198 | SLC12A3 | c.1758G= (p.Trp586=) c.1755G= (p.Trp585=) | |
16 | g.56884137G>T | CA395990700 | SLC12A3 | c.1758G>T (p.Trp586Cys) c.1755G>T (p.Trp585Cys) | |
16 | g.56884138T>A | CA395990702 | SLC12A3 | c.1759T>A (p.Trp587Arg) c.1756T>A (p.Trp586Arg) | |
16 | g.56884138T>C | CA395990704 | SLC12A3 | c.1759T>C (p.Trp587Arg) c.1756T>C (p.Trp586Arg) | dbSNP |
16 | g.56884138T>G | CA395990707 | SLC12A3 | c.1759T>G (p.Trp587Gly) c.1756T>G (p.Trp586Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884138T= | CA2224356199 | SLC12A3 | c.1759T= (p.Trp587=) c.1756T= (p.Trp586=) | |
16 | g.56884139G>A | CA395990709 | SLC12A3 | c.1760G>A (p.Trp587Ter) c.1757G>A (p.Trp586Ter) | gnomAD v4 |
16 | g.56884139G>C | CA395990711 | SLC12A3 | c.1760G>C (p.Trp587Ser) c.1757G>C (p.Trp586Ser) | |
16 | g.56884139G>T | CA395990713 | SLC12A3 | c.1760G>T (p.Trp587Leu) c.1757G>T (p.Trp586Leu) | |
16 | g.56884141del | CA2695223450 | SLC12A3 | c.1762del (p.Ala588ArgfsTer23) c.1759del (p.Ala587ArgfsTer23) | |
16 | g.56884140G>A | CA395990718 | SLC12A3 | c.1761G>A (p.Trp587Ter) c.1758G>A (p.Trp586Ter) | COSMIC |
16 | g.56884140G>C | CA395990715 | SLC12A3 | c.1761G>C (p.Trp587Cys) c.1758G>C (p.Trp586Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884140G= | CA2224356200 | SLC12A3 | c.1761G= (p.Trp587=) c.1758G= (p.Trp586=) | |
16 | g.56884140G>T | CA395990717 | SLC12A3 | c.1761G>T (p.Trp587Cys) c.1758G>T (p.Trp586Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56884141G>A | CA395990720 | SLC12A3 | c.1762G>A (p.Ala588Thr) c.1759G>A (p.Ala587Thr) | gnomAD v4 |
16 | g.56884141G>C | CA395990722 | SLC12A3 | c.1762G>C (p.Ala588Pro) c.1759G>C (p.Ala587Pro) | |
16 | g.56884141G>T | CA395990724 | SLC12A3 | c.1762G>T (p.Ala588Ser) c.1759G>T (p.Ala587Ser) | |
16 | g.56884142C>A | CA8069597 | SLC12A3 | c.1763C>A (p.Ala588Glu) c.1760C>A (p.Ala587Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884142C= | CA2224356201 | SLC12A3 | c.1763C= (p.Ala588=) c.1760C= (p.Ala587=) | |
16 | g.56884142C>G | CA395990728 | SLC12A3 | c.1763C>G (p.Ala588Gly) c.1760C>G (p.Ala587Gly) | |
16 | g.56884142C>T | CA119774 | SLC12A3 | c.1763C>T (p.Ala588Val) c.1760C>T (p.Ala587Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56884143G>A | CA8069598 | SLC12A3 | c.1764G>A (p.Ala588=) c.1761G>A (p.Ala587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884143G>C | CA495604558 | SLC12A3 | c.1764G>C (p.Ala588=) c.1761G>C (p.Ala587=) | |
16 | g.56884143G= | CA2224356202 | SLC12A3 | c.1764G= (p.Ala588=) c.1761G= (p.Ala587=) | |
16 | g.56884143G>T | CA495604557 | SLC12A3 | c.1764G>T (p.Ala588=) c.1761G>T (p.Ala587=) | |
16 | g.56884144G>A | CA395990735 | SLC12A3 | c.1765G>A (p.Ala589Thr) c.1762G>A (p.Ala588Thr) | |
16 | g.56884144G>C | CA395990737 | SLC12A3 | c.1765G>C (p.Ala589Pro) c.1762G>C (p.Ala588Pro) | gnomAD v4 |
16 | g.56884144G>T | CA395990740 | SLC12A3 | c.1765G>T (p.Ala589Ser) c.1762G>T (p.Ala588Ser) | |
16 | g.56884145C>A | CA395990749 | SLC12A3 | c.1766C>A (p.Ala589Asp) c.1763C>A (p.Ala588Asp) | |
16 | g.56884145C>G | CA395990746 | SLC12A3 | c.1766C>G (p.Ala589Gly) c.1763C>G (p.Ala588Gly) | |
16 | g.56884145C>T | CA395990743 | SLC12A3 | c.1766C>T (p.Ala589Val) c.1763C>T (p.Ala588Val) | gnomAD v4 |
16 | g.56884146C>A | CA495604561 | SLC12A3 | c.1767C>A (p.Ala589=) c.1764C>A (p.Ala588=) | |
16 | g.56884146C>G | CA495604559 | SLC12A3 | c.1767C>G (p.Ala589=) c.1764C>G (p.Ala588=) | |
16 | g.56884146C>T | CA495604560 | SLC12A3 | c.1767C>T (p.Ala589=) c.1764C>T (p.Ala588=) | ClinVar |
16 | g.56884147C>A | CA395990752 | SLC12A3 | c.1768C>A (p.Leu590Ile) c.1765C>A (p.Leu589Ile) | |
16 | g.56884147C= | CA2224356203 | SLC12A3 | c.1768C= (p.Leu590=) c.1765C= (p.Leu589=) | |
16 | g.56884147C>G | CA395990756 | SLC12A3 | c.1768C>G (p.Leu590Val) c.1765C>G (p.Leu589Val) | gnomAD v4 COSMIC |
16 | g.56884147C>T | CA281504566 | SLC12A3 | c.1768C>T (p.Leu590Phe) c.1765C>T (p.Leu589Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884148T>A | CA395990762 | SLC12A3 | c.1769T>A (p.Leu590His) c.1766T>A (p.Leu589His) | |
16 | g.56884148T>C | CA395990764 | SLC12A3 | c.1769T>C (p.Leu590Pro) c.1766T>C (p.Leu589Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884148T>G | CA395990767 | SLC12A3 | c.1769T>G (p.Leu590Arg) c.1766T>G (p.Leu589Arg) | |
16 | g.56884148T= | CA2224356204 | SLC12A3 | c.1769T= (p.Leu590=) c.1766T= (p.Leu589=) | |
16 | g.56884149C>A | CA495604562 | SLC12A3 | c.1770C>A (p.Leu590=) c.1767C>A (p.Leu589=) | dbSNP |
16 | g.56884149C= | CA2224356205 | SLC12A3 | c.1770C= (p.Leu590=) c.1767C= (p.Leu589=) | |
16 | g.56884149C>G | CA495604564 | SLC12A3 | c.1770C>G (p.Leu590=) c.1767C>G (p.Leu589=) | COSMIC |
16 | g.56884149C>T | CA495604563 | SLC12A3 | c.1770C>T (p.Leu590=) c.1767C>T (p.Leu589=) | gnomAD v4 |
16 | g.56884150A>C | CA395990769 | SLC12A3 | c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) | |
16 | g.56884150A>G | CA395990770 | SLC12A3 | c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) | |
16 | g.56884150A>T | CA395990773 | SLC12A3 | c.1771A>T (p.Ile591Phe) c.1768A>T (p.Ile590Phe) | |
16 | g.56884151T>A | CA395990777 | SLC12A3 | c.1772T>A (p.Ile591Asn) c.1769T>A (p.Ile590Asn) | |
16 | g.56884151T>C | CA395990778 | SLC12A3 | c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) | |
16 | g.56884151T>G | CA395990781 | SLC12A3 | c.1772T>G (p.Ile591Ser) c.1769T>G (p.Ile590Ser) | |
16 | g.56884152C>A | CA495604565 | SLC12A3 | c.1773C>A (p.Ile591=) c.1770C>A (p.Ile590=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884152C= | CA2224356206 | SLC12A3 | c.1773C= (p.Ile591=) c.1770C= (p.Ile590=) | |
16 | g.56884152C>G | CA395990787 | SLC12A3 | c.1773C>G (p.Ile591Met) c.1770C>G (p.Ile590Met) | |
16 | g.56884152C>T | CA8069599 | SLC12A3 | c.1773C>T (p.Ile591=) c.1770C>T (p.Ile590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884153G>A | CA8069600 | SLC12A3 | c.1774G>A (p.Ala592Thr) c.1771G>A (p.Ala591Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56884153G>C | CA395990793 | SLC12A3 | c.1774G>C (p.Ala592Pro) c.1771G>C (p.Ala591Pro) | |
16 | g.56884153G= | CA2224356207 | SLC12A3 | c.1774G= (p.Ala592=) c.1771G= (p.Ala591=) | |
16 | g.56884153G>T | CA395990795 | SLC12A3 | c.1774G>T (p.Ala592Ser) c.1771G>T (p.Ala591Ser) | |
16 | g.56884154C>A | CA395990797 | SLC12A3 | c.1775C>A (p.Ala592Asp) c.1772C>A (p.Ala591Asp) | |
16 | g.56884154C= | CA2224356208 | SLC12A3 | c.1775C= (p.Ala592=) c.1772C= (p.Ala591=) | |
16 | g.56884154C>G | CA395990800 | SLC12A3 | c.1775C>G (p.Ala592Gly) c.1772C>G (p.Ala591Gly) | |
16 | g.56884154C>T | CA8069601 | SLC12A3 | c.1775C>T (p.Ala592Val) c.1772C>T (p.Ala591Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884155C>A | CA495604568 | SLC12A3 | c.1776C>A (p.Ala592=) c.1773C>A (p.Ala591=) | |
16 | g.56884155C= | CA2224356209 | SLC12A3 | c.1776C= (p.Ala592=) c.1773C= (p.Ala591=) | |
16 | g.56884155C>G | CA495604569 | SLC12A3 | c.1776C>G (p.Ala592=) c.1773C>G (p.Ala591=) | dbSNP gnomAD v4 |
16 | g.56884155C>T | CA495604571 | SLC12A3 | c.1776C>T (p.Ala592=) c.1773C>T (p.Ala591=) | |
16 | g.56884156A= | CA2224356210 | SLC12A3 | c.1777A= (p.Ile593=) c.1774A= (p.Ile592=) | |
16 | g.56884156A>C | CA8069602 | SLC12A3 | c.1777A>C (p.Ile593Leu) c.1774A>C (p.Ile592Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884156A>G | CA395990808 | SLC12A3 | c.1777A>G (p.Ile593Val) c.1774A>G (p.Ile592Val) | |
16 | g.56884156A>T | CA395990811 | SLC12A3 | c.1777A>T (p.Ile593Phe) c.1774A>T (p.Ile592Phe) | |
16 | g.56884156_56884200del | CA2633373160 | SLC12A3 | c.1777_1821del (p.Ile593_Lys607del) c.1774_1818del (p.Ile592_Lys606del) | gnomAD v4 |
16 | g.56884157T>A | CA395990814 | SLC12A3 | c.1778T>A (p.Ile593Asn) c.1775T>A (p.Ile592Asn) | gnomAD v4 |
16 | g.56884157T>C | CA395990826 | SLC12A3 | c.1778T>C (p.Ile593Thr) c.1775T>C (p.Ile592Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56884157T>G | CA395990829 | SLC12A3 | c.1778T>G (p.Ile593Ser) c.1775T>G (p.Ile592Ser) | |
16 | g.56884157T= | CA2224356211 | SLC12A3 | c.1778T= (p.Ile593=) c.1775T= (p.Ile592=) | |
16 | g.56884158T>A | CA495604572 | SLC12A3 | c.1779T>A (p.Ile593=) c.1776T>A (p.Ile592=) | |
16 | g.56884158T>C | CA495604573 | SLC12A3 | c.1779T>C (p.Ile593=) c.1776T>C (p.Ile592=) | |
16 | g.56884158T>G | CA281504601 | SLC12A3 | c.1779T>G (p.Ile593Met) c.1776T>G (p.Ile592Met) | dbSNP |
16 | g.56884158T= | CA2224356212 | SLC12A3 | c.1779T= (p.Ile593=) c.1776T= (p.Ile592=) | |
16 | g.56884159G>A | CA395990835 | SLC12A3 | c.1780G>A (p.Gly594Ser) c.1777G>A (p.Gly593Ser) | |
16 | g.56884159G>C | CA395990837 | SLC12A3 | c.1780G>C (p.Gly594Arg) c.1777G>C (p.Gly593Arg) | |
16 | g.56884159G>T | CA395990832 | SLC12A3 | c.1780G>T (p.Gly594Cys) c.1777G>T (p.Gly593Cys) | |
16 | g.56884160G>A | CA395990844 | SLC12A3 | c.1781G>A (p.Gly594Asp) c.1778G>A (p.Gly593Asp) | |
16 | g.56884160G>C | CA395990840 | SLC12A3 | c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) | |
16 | g.56884160G= | CA2224356213 | SLC12A3 | c.1781G= (p.Gly594=) c.1778G= (p.Gly593=) | |
16 | g.56884160G>T | CA8069603 | SLC12A3 | c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884161C>A | CA495604574 | SLC12A3 | c.1782C>A (p.Gly594=) c.1779C>A (p.Gly593=) | |
16 | g.56884161C= | CA2224356214 | SLC12A3 | c.1782C= (p.Gly594=) c.1779C= (p.Gly593=) | |
16 | g.56884161C>G | CA495604575 | SLC12A3 | c.1782C>G (p.Gly594=) c.1779C>G (p.Gly593=) | |
16 | g.56884161C>T | CA495604576 | SLC12A3 | c.1782C>T (p.Gly594=) c.1779C>T (p.Gly593=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884162G>A | CA8069604 | SLC12A3 | c.1783G>A (p.Val595Met) c.1780G>A (p.Val594Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884162G>C | CA395990857 | SLC12A3 | c.1783G>C (p.Val595Leu) c.1780G>C (p.Val594Leu) | gnomAD v4 |
16 | g.56884162G= | CA2224356215 | SLC12A3 | c.1783G= (p.Val595=) c.1780G= (p.Val594=) | |
16 | g.56884162G>T | CA281504608 | SLC12A3 | c.1783G>T (p.Val595Leu) c.1780G>T (p.Val594Leu) | dbSNP gnomAD v4 |
16 | g.56884163T>A | CA395990862 | SLC12A3 | c.1784T>A (p.Val595Glu) c.1781T>A (p.Val594Glu) | |
16 | g.56884163T>C | CA395990861 | SLC12A3 | c.1784T>C (p.Val595Ala) c.1781T>C (p.Val594Ala) | |
16 | g.56884163T>G | CA395990860 | SLC12A3 | c.1784T>G (p.Val595Gly) c.1781T>G (p.Val594Gly) | |
16 | g.56884164G>A | CA495604579 | SLC12A3 | c.1785G>A (p.Val595=) c.1782G>A (p.Val594=) | |
16 | g.56884164G>C | CA495604578 | SLC12A3 | c.1785G>C (p.Val595=) c.1782G>C (p.Val594=) | |
16 | g.56884164G>T | CA495604577 | SLC12A3 | c.1785G>T (p.Val595=) c.1782G>T (p.Val594=) | |
16 | g.56884165G>A | CA395990863 | SLC12A3 | c.1786G>A (p.Val596Met) c.1783G>A (p.Val595Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56884165G>C | CA395990866 | SLC12A3 | c.1786G>C (p.Val596Leu) c.1783G>C (p.Val595Leu) | |
16 | g.56884165G= | CA2224356216 | SLC12A3 | c.1786G= (p.Val596=) c.1783G= (p.Val595=) | |
16 | g.56884165G>T | CA281504612 | SLC12A3 | c.1786G>T (p.Val596Leu) c.1783G>T (p.Val595Leu) | dbSNP gnomAD v4 |
16 | g.56884166T>A | CA395990873 | SLC12A3 | c.1787T>A (p.Val596Glu) c.1784T>A (p.Val595Glu) | |
16 | g.56884166T>C | CA395990876 | SLC12A3 | c.1787T>C (p.Val596Ala) c.1784T>C (p.Val595Ala) | |
16 | g.56884166T>G | CA395990879 | SLC12A3 | c.1787T>G (p.Val596Gly) c.1784T>G (p.Val595Gly) | |
16 | g.56884167G>A | CA495604580 | SLC12A3 | c.1788G>A (p.Val596=) c.1785G>A (p.Val595=) | ClinVar dbSNP gnomAD v4 |
16 | g.56884167G>C | CA495604581 | SLC12A3 | c.1788G>C (p.Val596=) c.1785G>C (p.Val595=) | |
16 | g.56884167G>T | CA495604582 | SLC12A3 | c.1788G>T (p.Val596=) c.1785G>T (p.Val595=) | |
16 | g.56884168C>A | CA395990884 | SLC12A3 | c.1789C>A (p.Leu597Ile) c.1786C>A (p.Leu596Ile) | |
16 | g.56884168C>G | CA395990882 | SLC12A3 | c.1789C>G (p.Leu597Val) c.1786C>G (p.Leu596Val) | |
16 | g.56884168C>T | CA395990883 | SLC12A3 | c.1789C>T (p.Leu597Phe) c.1786C>T (p.Leu596Phe) | |
16 | g.56884171_56884176del | CA2807160387 | SLC12A3 | c.1792_1797del (p.Phe598_Leu599del) c.1789_1794del (p.Phe597_Leu598del) | |
16 | g.56884169T>A | CA395990886 | SLC12A3 | c.1790T>A (p.Leu597His) c.1787T>A (p.Leu596His) | |
16 | g.56884169T>C | CA395990889 | SLC12A3 | c.1790T>C (p.Leu597Pro) c.1787T>C (p.Leu596Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884169T>G | CA395990891 | SLC12A3 | c.1790T>G (p.Leu597Arg) c.1787T>G (p.Leu596Arg) | |
16 | g.56884169T= | CA2224356217 | SLC12A3 | c.1790T= (p.Leu597=) c.1787T= (p.Leu596=) | |
16 | g.56884170C>A | CA495604583 | SLC12A3 | c.1791C>A (p.Leu597=) c.1788C>A (p.Leu596=) | |
16 | g.56884170C= | CA2224356218 | SLC12A3 | c.1791C= (p.Leu597=) c.1788C= (p.Leu596=) | |
16 | g.56884170C>G | CA495604584 | SLC12A3 | c.1791C>G (p.Leu597=) c.1788C>G (p.Leu596=) | |
16 | g.56884170C>T | CA8069605 | SLC12A3 | c.1791C>T (p.Leu597=) c.1788C>T (p.Leu596=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884172_56884181del | CA645585193 | SLC12A3 | c.1793_1802del (p.Phe598SerfsTer10) c.1790_1799del (p.Phe597SerfsTer10) | COSMIC |
16 | g.56884171T>A | CA395990902 | SLC12A3 | c.1792T>A (p.Phe598Ile) c.1789T>A (p.Phe597Ile) | |
16 | g.56884171T>C | CA395990904 | SLC12A3 | c.1792T>C (p.Phe598Leu) c.1789T>C (p.Phe597Leu) | |
16 | g.56884171T>G | CA395990906 | SLC12A3 | c.1792T>G (p.Phe598Val) c.1789T>G (p.Phe597Val) | |
16 | g.56884172T>A | CA395990911 | SLC12A3 | c.1793T>A (p.Phe598Tyr) c.1790T>A (p.Phe597Tyr) | |
16 | g.56884172T>C | CA395990917 | SLC12A3 | c.1793T>C (p.Phe598Ser) c.1790T>C (p.Phe597Ser) | gnomAD v4 |
16 | g.56884172T>G | CA395990920 | SLC12A3 | c.1793T>G (p.Phe598Cys) c.1790T>G (p.Phe597Cys) | |
16 | g.56884173C>A | CA395990926 | SLC12A3 | c.1794C>A (p.Phe598Leu) c.1791C>A (p.Phe597Leu) | |
16 | g.56884173C>G | CA395990929 | SLC12A3 | c.1794C>G (p.Phe598Leu) c.1791C>G (p.Phe597Leu) | |
16 | g.56884173C>T | CA495604585 | SLC12A3 | c.1794C>T (p.Phe598=) c.1791C>T (p.Phe597=) | |
16 | g.56884174C>A | CA395990933 | SLC12A3 | c.1795C>A (p.Leu599Ile) c.1792C>A (p.Leu598Ile) | |
16 | g.56884174C= | CA2224356219 | SLC12A3 | c.1795C= (p.Leu599=) c.1792C= (p.Leu598=) | |
16 | g.56884174C>G | CA395990946 | SLC12A3 | c.1795C>G (p.Leu599Val) c.1792C>G (p.Leu598Val) | |
16 | g.56884174C>T | CA8069606 | SLC12A3 | c.1795C>T (p.Leu599Phe) c.1792C>T (p.Leu598Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884175_56884176dup | CA2695223451 | SLC12A3 | c.1796_1797dup (p.Leu600SerfsTer12) c.1793_1794dup (p.Leu599SerfsTer12) | |
16 | g.56884175T>A | CA395990950 | SLC12A3 | c.1796T>A (p.Leu599His) c.1793T>A (p.Leu598His) | |
16 | g.56884175T>C | CA8069607 | SLC12A3 | c.1796T>C (p.Leu599Pro) c.1793T>C (p.Leu598Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884175T>G | CA395990954 | SLC12A3 | c.1796T>G (p.Leu599Arg) c.1793T>G (p.Leu598Arg) | |
16 | g.56884175T= | CA2224356220 | SLC12A3 | c.1796T= (p.Leu599=) c.1793T= (p.Leu598=) | |
16 | g.56884176C>A | CA495604586 | SLC12A3 | c.1797C>A (p.Leu599=) c.1794C>A (p.Leu598=) | |
16 | g.56884176C= | CA2224356221 | SLC12A3 | c.1797C= (p.Leu599=) c.1794C= (p.Leu598=) | |
16 | g.56884176C>G | CA495604587 | SLC12A3 | c.1797C>G (p.Leu599=) c.1794C>G (p.Leu598=) | |
16 | g.56884176C>T | CA8069608 | SLC12A3 | c.1797C>T (p.Leu599=) c.1794C>T (p.Leu598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56884177C>A | CA395990960 | SLC12A3 | c.1798C>A (p.Leu600Met) c.1795C>A (p.Leu599Met) | |
16 | g.56884177C>G | CA395990963 | SLC12A3 | c.1798C>G (p.Leu600Val) c.1795C>G (p.Leu599Val) | |
16 | g.56884177C>T | CA495604588 | SLC12A3 | c.1798C>T (p.Leu600=) c.1795C>T (p.Leu599=) | ClinVar COSMIC |
16 | g.56884178T>A | CA395990965 | SLC12A3 | c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) | |
16 | g.56884178T>C | CA395990969 | SLC12A3 | c.1799T>C (p.Leu600Pro) c.1796T>C (p.Leu599Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884178T>G | CA395990971 | SLC12A3 | c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) | |
16 | g.56884178T= | CA2224356222 | SLC12A3 | c.1799T= (p.Leu600=) c.1796T= (p.Leu599=) | |
16 | g.56884179G>A | CA495604589 | SLC12A3 | c.1800G>A (p.Leu600=) c.1797G>A (p.Leu599=) | |
16 | g.56884179G>C | CA8069609 | SLC12A3 | c.1800G>C (p.Leu600=) c.1797G>C (p.Leu599=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56884179G= | CA2224356223 | SLC12A3 | c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) | |
16 | g.56884179G>T | CA495604590 | SLC12A3 | c.1800G>T (p.Leu600=) c.1797G>T (p.Leu599=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |