16 | g.23215148T>A | CA494459619 | SCNN1G | c.1629T>A (p.Val543=)
| |
16 | g.23215148T>C | CA494459620 | SCNN1G | c.1629T>C (p.Val543=)
| |
16 | g.23215148T>G | CA494459621 | SCNN1G | c.1629T>G (p.Val543=)
| |
16 | g.23215149G>A | CA395103322 | SCNN1G | c.1630G>A (p.Val544Ile)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215149G>C | CA7959947 | SCNN1G | c.1630G>C (p.Val544Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215149G= | CA2213236465 | SCNN1G | c.1630G= (p.Val544=)
| |
16 | g.23215149G>T | CA395103323 | SCNN1G | c.1630G>T (p.Val544Phe)
| dbSNP |
16 | g.23215150T>A | CA395103324 | SCNN1G | c.1631T>A (p.Val544Asp)
| |
16 | g.23215150T>C | CA395103325 | SCNN1G | c.1631T>C (p.Val544Ala)
| |
16 | g.23215150T>G | CA395103326 | SCNN1G | c.1631T>G (p.Val544Gly)
| |
16 | g.23215151C>A | CA494459627 | SCNN1G | c.1632C>A (p.Val544=)
| |
16 | g.23215151C= | CA2213236469 | SCNN1G | c.1632C= (p.Val544=)
| |
16 | g.23215151C>G | CA494459625 | SCNN1G | c.1632C>G (p.Val544=)
| |
16 | g.23215151C>T | CA494459626 | SCNN1G | c.1632C>T (p.Val544=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215152T>A | CA395103327 | SCNN1G | c.1633T>A (p.Cys545Ser)
| |
16 | g.23215152T>C | CA395103328 | SCNN1G | c.1633T>C (p.Cys545Arg)
| |
16 | g.23215152T>G | CA395103329 | SCNN1G | c.1633T>G (p.Cys545Gly)
| |
16 | g.23215153G>A | CA395103330 | SCNN1G | c.1634G>A (p.Cys545Tyr)
| |
16 | g.23215153G>C | CA395103331 | SCNN1G | c.1634G>C (p.Cys545Ser)
| |
16 | g.23215153G>T | CA395103332 | SCNN1G | c.1634G>T (p.Cys545Phe)
| |
16 | g.23215154C>A | CA395103334 | SCNN1G | c.1635C>A (p.Cys545Ter)
| |
16 | g.23215154C= | CA2213236638 | SCNN1G | c.1635C= (p.Cys545=)
| |
16 | g.23215154C>G | CA395103333 | SCNN1G | c.1635C>G (p.Cys545Trp)
| |
16 | g.23215154C>T | CA7959948 | SCNN1G | c.1635C>T (p.Cys545=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23215155G>A | CA7959949 | SCNN1G | c.1636G>A (p.Val546Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215155G>C | CA395103335 | SCNN1G | c.1636G>C (p.Val546Leu)
| gnomAD v4 COSMIC |
16 | g.23215155G= | CA2213236643 | SCNN1G | c.1636G= (p.Val546=)
| |
16 | g.23215155G>T | CA395103336 | SCNN1G | c.1636G>T (p.Val546Phe)
| |
16 | g.23215156T>A | CA395103337 | SCNN1G | c.1637T>A (p.Val546Asp)
| |
16 | g.23215156T>C | CA395103338 | SCNN1G | c.1637T>C (p.Val546Ala)
| |
16 | g.23215156T>G | CA395103339 | SCNN1G | c.1637T>G (p.Val546Gly)
| |
16 | g.23215157C>A | CA494459631 | SCNN1G | c.1638C>A (p.Val546=)
| |
16 | g.23215157C>G | CA494459632 | SCNN1G | c.1638C>G (p.Val546=)
| |
16 | g.23215157C>T | CA494459634 | SCNN1G | c.1638C>T (p.Val546=)
| gnomAD v4 |
16 | g.23215158A>C | CA395103340 | SCNN1G | c.1639A>C (p.Ile547Leu)
| |
16 | g.23215158A>G | CA395103341 | SCNN1G | c.1639A>G (p.Ile547Val)
| |
16 | g.23215158A>T | CA395103342 | SCNN1G | c.1639A>T (p.Ile547Phe)
| |
16 | g.23215159T>A | CA395103343 | SCNN1G | c.1640T>A (p.Ile547Asn)
| |
16 | g.23215159T>C | CA395103344 | SCNN1G | c.1640T>C (p.Ile547Thr)
| |
16 | g.23215159T>G | CA395103345 | SCNN1G | c.1640T>G (p.Ile547Ser)
| |
16 | g.23215160C>A | CA494459636 | SCNN1G | c.1641C>A (p.Ile547=)
| |
16 | g.23215160C= | CA2213236647 | SCNN1G | c.1641C= (p.Ile547=)
| |
16 | g.23215160C>G | CA395103346 | SCNN1G | c.1641C>G (p.Ile547Met)
| dbSNP |
16 | g.23215160C>T | CA494459637 | SCNN1G | c.1641C>T (p.Ile547=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215161G>A | CA395103348 | SCNN1G | c.1642G>A (p.Glu548Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.23215161G>C | CA395103349 | SCNN1G | c.1642G>C (p.Glu548Gln)
| |
16 | g.23215161G= | CA2213236652 | SCNN1G | c.1642G= (p.Glu548=)
| |
16 | g.23215161G>T | CA395103347 | SCNN1G | c.1642G>T (p.Glu548Ter)
| |
16 | g.23215162A>C | CA395103350 | SCNN1G | c.1643A>C (p.Glu548Ala)
| |
16 | g.23215162A>G | CA395103352 | SCNN1G | c.1643A>G (p.Glu548Gly)
| |
16 | g.23215162A>T | CA395103351 | SCNN1G | c.1643A>T (p.Glu548Val)
| |
16 | g.23215163G>A | CA494459641 | SCNN1G | c.1644G>A (p.Glu548=)
| |
16 | g.23215163G>C | CA395103353 | SCNN1G | c.1644G>C (p.Glu548Asp)
| |
16 | g.23215163G>T | CA395103354 | SCNN1G | c.1644G>T (p.Glu548Asp)
| |
16 | g.23215164A>C | CA395103355 | SCNN1G | c.1645A>C (p.Ile549Leu)
| |
16 | g.23215164A>G | CA395103356 | SCNN1G | c.1645A>G (p.Ile549Val)
| gnomAD v4 |
16 | g.23215164A>T | CA395103357 | SCNN1G | c.1645A>T (p.Ile549Phe)
| |
16 | g.23215165T>A | CA395103358 | SCNN1G | c.1646T>A (p.Ile549Asn)
| |
16 | g.23215165T>C | CA395103359 | SCNN1G | c.1646T>C (p.Ile549Thr)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.23215165T>G | CA395103360 | SCNN1G | c.1646T>G (p.Ile549Ser)
| |
16 | g.23215165T= | CA2213236660 | SCNN1G | c.1646T= (p.Ile549=)
| |
16 | g.23215166C>A | CA494459643 | SCNN1G | c.1647C>A (p.Ile549=)
| |
16 | g.23215166C>G | CA395103361 | SCNN1G | c.1647C>G (p.Ile549Met)
| |
16 | g.23215166C>T | CA494459644 | SCNN1G | c.1647C>T (p.Ile549=)
| COSMIC |
16 | g.23215167A= | CA2213236667 | SCNN1G | c.1648A= (p.Ile550=)
| |
16 | g.23215167A>C | CA395103362 | SCNN1G | c.1648A>C (p.Ile550Leu)
| |
16 | g.23215167A>G | CA395103363 | SCNN1G | c.1648A>G (p.Ile550Val)
| gnomAD v4 |
16 | g.23215167A>T | CA7959950 | SCNN1G | c.1648A>T (p.Ile550Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215168T>A | CA395103364 | SCNN1G | c.1649T>A (p.Ile550Asn)
| |
16 | g.23215168T>C | CA395103365 | SCNN1G | c.1649T>C (p.Ile550Thr)
| |
16 | g.23215168T>G | CA395103366 | SCNN1G | c.1649T>G (p.Ile550Ser)
| |
16 | g.23215169C>A | CA494459648 | SCNN1G | c.1650C>A (p.Ile550=)
| |
16 | g.23215169C= | CA2213236671 | SCNN1G | c.1650C= (p.Ile550=)
| |
16 | g.23215169C>G | CA395103367 | SCNN1G | c.1650C>G (p.Ile550Met)
| |
16 | g.23215169C>T | CA7959951 | SCNN1G | c.1650C>T (p.Ile550=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23215170G>A | CA395103368 | SCNN1G | c.1651G>A (p.Glu551Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.23215170G>C | CA395103369 | SCNN1G | c.1651G>C (p.Glu551Gln)
| |
16 | g.23215170G= | CA2213236675 | SCNN1G | c.1651G= (p.Glu551=)
| |
16 | g.23215170G>T | CA395103370 | SCNN1G | c.1651G>T (p.Glu551Ter)
| |
16 | g.23215171A>C | CA395103371 | SCNN1G | c.1652A>C (p.Glu551Ala)
| |
16 | g.23215171A>G | CA395103372 | SCNN1G | c.1652A>G (p.Glu551Gly)
| |
16 | g.23215171A>T | CA395103373 | SCNN1G | c.1652A>T (p.Glu551Val)
| |
16 | g.23215172G>A | CA494459650 | SCNN1G | c.1653G>A (p.Glu551=)
| gnomAD v4 |
16 | g.23215172G>C | CA395103374 | SCNN1G | c.1653G>C (p.Glu551Asp)
| |
16 | g.23215172G>T | CA395103375 | SCNN1G | c.1653G>T (p.Glu551Asp)
| gnomAD v4 |
16 | g.23215173G>A | CA395103376 | SCNN1G | c.1654G>A (p.Val552Ile)
| ClinVar dbSNP gnomAD v4 |
16 | g.23215173G>C | CA395103378 | SCNN1G | c.1654G>C (p.Val552Leu)
| |
16 | g.23215173G>T | CA395103377 | SCNN1G | c.1654G>T (p.Val552Phe)
| |
16 | g.23215174T>A | CA395103379 | SCNN1G | c.1655T>A (p.Val552Asp)
| |
16 | g.23215174T>C | CA395103380 | SCNN1G | c.1655T>C (p.Val552Ala)
| |
16 | g.23215174T>G | CA395103381 | SCNN1G | c.1655T>G (p.Val552Gly)
| |
16 | g.23215175C>A | CA7959952 | SCNN1G | c.1656C>A (p.Val552=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215175C= | CA2213236679 | SCNN1G | c.1656C= (p.Val552=)
| |
16 | g.23215175C>G | CA494459651 | SCNN1G | c.1656C>G (p.Val552=)
| |
16 | g.23215175C>T | CA494459652 | SCNN1G | c.1656C>T (p.Val552=)
| dbSNP gnomAD v4 |
16 | g.23215176T>A | CA395103382 | SCNN1G | c.1657T>A (p.Phe553Ile)
| |
16 | g.23215176T>C | CA395103384 | SCNN1G | c.1657T>C (p.Phe553Leu)
| |
16 | g.23215176T>G | CA395103383 | SCNN1G | c.1657T>G (p.Phe553Val)
| |
16 | g.23215177T>A | CA395103385 | SCNN1G | c.1658T>A (p.Phe553Tyr)
| |
16 | g.23215177T>C | CA395103386 | SCNN1G | c.1658T>C (p.Phe553Ser)
| |
16 | g.23215177T>G | CA395103387 | SCNN1G | c.1658T>G (p.Phe553Cys)
| |
16 | g.23215178C>A | CA395103388 | SCNN1G | c.1659C>A (p.Phe553Leu)
| |
16 | g.23215178C>G | CA395103389 | SCNN1G | c.1659C>G (p.Phe553Leu)
| |
16 | g.23215178C>T | CA494459654 | SCNN1G | c.1659C>T (p.Phe553=)
| |
16 | g.23215179T>A | CA395103390 | SCNN1G | c.1660T>A (p.Phe554Ile)
| |
16 | g.23215179T>C | CA7959954 | SCNN1G | c.1660T>C (p.Phe554Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215179T>G | CA7959953 | SCNN1G | c.1660T>G (p.Phe554Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215179T= | CA2213236686 | SCNN1G | c.1660T= (p.Phe554=)
| |
16 | g.23215180del | CA2632291775 | SCNN1G | c.1661del (p.Phe554SerfsTer?)
| gnomAD v4 |
16 | g.23215180T>A | CA395103391 | SCNN1G | c.1661T>A (p.Phe554Tyr)
| |
16 | g.23215180T>C | CA395103392 | SCNN1G | c.1661T>C (p.Phe554Ser)
| |
16 | g.23215180T>G | CA395103393 | SCNN1G | c.1661T>G (p.Phe554Cys)
| |
16 | g.23215181C>A | CA395103394 | SCNN1G | c.1662C>A (p.Phe554Leu)
| |
16 | g.23215181C>G | CA395103395 | SCNN1G | c.1662C>G (p.Phe554Leu)
| |
16 | g.23215181C>T | CA494459655 | SCNN1G | c.1662C>T (p.Phe554=)
| |
16 | g.23215182A>C | CA395103398 | SCNN1G | c.1663A>C (p.Ile555Leu)
| |
16 | g.23215182A>G | CA395103396 | SCNN1G | c.1663A>G (p.Ile555Val)
| |
16 | g.23215182A>T | CA395103397 | SCNN1G | c.1663A>T (p.Ile555Phe)
| |
16 | g.23215183T>A | CA395103399 | SCNN1G | c.1664T>A (p.Ile555Asn)
| |
16 | g.23215183T>C | CA395103400 | SCNN1G | c.1664T>C (p.Ile555Thr)
| |
16 | g.23215183T>G | CA395103401 | SCNN1G | c.1664T>G (p.Ile555Ser)
| |
16 | g.23215184T>A | CA494459659 | SCNN1G | c.1665T>A (p.Ile555=)
| |
16 | g.23215184T>C | CA494459660 | SCNN1G | c.1665T>C (p.Ile555=)
| dbSNP |
16 | g.23215184T>G | CA395103402 | SCNN1G | c.1665T>G (p.Ile555Met)
| |
16 | g.23215185G>A | CA395103403 | SCNN1G | c.1666G>A (p.Asp556Asn)
| |
16 | g.23215185G>C | CA395103404 | SCNN1G | c.1666G>C (p.Asp556His)
| |
16 | g.23215185G>T | CA395103405 | SCNN1G | c.1666G>T (p.Asp556Tyr)
| |
16 | g.23215186A>C | CA395103406 | SCNN1G | c.1667A>C (p.Asp556Ala)
| |
16 | g.23215186A>G | CA395103407 | SCNN1G | c.1667A>G (p.Asp556Gly)
| |
16 | g.23215186A>T | CA395103408 | SCNN1G | c.1667A>T (p.Asp556Val)
| |
16 | g.23215187C>A | CA395103409 | SCNN1G | c.1668C>A (p.Asp556Glu)
| |
16 | g.23215187C= | CA2213236694 | SCNN1G | c.1668C= (p.Asp556=)
| |
16 | g.23215187C>G | CA395103410 | SCNN1G | c.1668C>G (p.Asp556Glu)
| |
16 | g.23215187C>T | CA494459663 | SCNN1G | c.1668C>T (p.Asp556=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215188T>A | CA395103411 | SCNN1G | c.1669T>A (p.Phe557Ile)
| gnomAD v4 |
16 | g.23215188T>C | CA395103413 | SCNN1G | c.1669T>C (p.Phe557Leu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215188T>G | CA395103412 | SCNN1G | c.1669T>G (p.Phe557Val)
| |
16 | g.23215188T= | CA2213236700 | SCNN1G | c.1669T= (p.Phe557=)
| |
16 | g.23215189T>A | CA395103414 | SCNN1G | c.1670T>A (p.Phe557Tyr)
| |
16 | g.23215189T>C | CA395103416 | SCNN1G | c.1670T>C (p.Phe557Ser)
| |
16 | g.23215189T>G | CA395103415 | SCNN1G | c.1670T>G (p.Phe557Cys)
| dbSNP |
16 | g.23215189T= | CA2213236705 | SCNN1G | c.1670T= (p.Phe557=)
| |
16 | g.23215190C>A | CA395103417 | SCNN1G | c.1671C>A (p.Phe557Leu)
| COSMIC |
16 | g.23215190C>G | CA395103418 | SCNN1G | c.1671C>G (p.Phe557Leu)
| |
16 | g.23215190C>T | CA494459665 | SCNN1G | c.1671C>T (p.Phe557=)
| |
16 | g.23215191T>A | CA395103419 | SCNN1G | c.1672T>A (p.Phe558Ile)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.23215191T>C | CA395103420 | SCNN1G | c.1672T>C (p.Phe558Leu)
| |
16 | g.23215191T>G | CA395103421 | SCNN1G | c.1672T>G (p.Phe558Val)
| gnomAD v4 |
16 | g.23215191T= | CA2213236708 | SCNN1G | c.1672T= (p.Phe558=)
| |
16 | g.23215192T>A | CA395103422 | SCNN1G | c.1673T>A (p.Phe558Tyr)
| |
16 | g.23215192T>C | CA395103423 | SCNN1G | c.1673T>C (p.Phe558Ser)
| |
16 | g.23215192T>G | CA395103424 | SCNN1G | c.1673T>G (p.Phe558Cys)
| |
16 | g.23215193C>A | CA395103425 | SCNN1G | c.1674C>A (p.Phe558Leu)
| gnomAD v4 |
16 | g.23215193C= | CA2213236712 | SCNN1G | c.1674C= (p.Phe558=)
| |
16 | g.23215193C>G | CA395103426 | SCNN1G | c.1674C>G (p.Phe558Leu)
| |
16 | g.23215193C>T | CA494459668 | SCNN1G | c.1674C>T (p.Phe558=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215194T>A | CA395103427 | SCNN1G | c.1675T>A (p.Ser559Thr)
| |
16 | g.23215194T>C | CA395103428 | SCNN1G | c.1675T>C (p.Ser559Pro)
| gnomAD v4 |
16 | g.23215194T>G | CA395103429 | SCNN1G | c.1675T>G (p.Ser559Ala)
| |
16 | g.23215195C>A | CA395103430 | SCNN1G | c.1676C>A (p.Ser559Tyr)
| |
16 | g.23215195C= | CA2213236719 | SCNN1G | c.1676C= (p.Ser559=)
| |
16 | g.23215195C>G | CA395103432 | SCNN1G | c.1676C>G (p.Ser559Cys)
| dbSNP |
16 | g.23215195C>T | CA395103431 | SCNN1G | c.1676C>T (p.Ser559Phe)
| gnomAD v4 |
16 | g.23215196T>A | CA494459670 | SCNN1G | c.1677T>A (p.Ser559=)
| |
16 | g.23215196T>C | CA494459671 | SCNN1G | c.1677T>C (p.Ser559=)
| |
16 | g.23215196T>G | CA494459672 | SCNN1G | c.1677T>G (p.Ser559=)
| |
16 | g.23215197A>C | CA395103433 | SCNN1G | c.1678A>C (p.Ile560Leu)
| |
16 | g.23215197A>G | CA395103434 | SCNN1G | c.1678A>G (p.Ile560Val)
| gnomAD v4 |
16 | g.23215197A>T | CA395103435 | SCNN1G | c.1678A>T (p.Ile560Phe)
| |
16 | g.23215198T>A | CA395103436 | SCNN1G | c.1679T>A (p.Ile560Asn)
| |
16 | g.23215198T>C | CA395103437 | SCNN1G | c.1679T>C (p.Ile560Thr)
| |
16 | g.23215198T>G | CA395103438 | SCNN1G | c.1679T>G (p.Ile560Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215198T= | CA2213236725 | SCNN1G | c.1679T= (p.Ile560=)
| |
16 | g.23215199C>A | CA494459675 | SCNN1G | c.1680C>A (p.Ile560=)
| gnomAD v4 |
16 | g.23215199C>G | CA395103439 | SCNN1G | c.1680C>G (p.Ile560Met)
| gnomAD v4 |
16 | g.23215199C>T | CA494459676 | SCNN1G | c.1680C>T (p.Ile560=)
| |
16 | g.23215200A= | CA2213236731 | SCNN1G | c.1681A= (p.Ile561=)
| |
16 | g.23215200A>C | CA395103440 | SCNN1G | c.1681A>C (p.Ile561Leu)
| |
16 | g.23215200A>G | CA7959955 | SCNN1G | c.1681A>G (p.Ile561Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215200A>T | CA395103441 | SCNN1G | c.1681A>T (p.Ile561Phe)
| |
16 | g.23215201T>A | CA395103444 | SCNN1G | c.1682T>A (p.Ile561Asn)
| |
16 | g.23215201T>C | CA395103443 | SCNN1G | c.1682T>C (p.Ile561Thr)
| dbSNP |
16 | g.23215201T>G | CA395103442 | SCNN1G | c.1682T>G (p.Ile561Ser)
| |
16 | g.23215201T= | CA2213236736 | SCNN1G | c.1682T= (p.Ile561=)
| |
16 | g.23215202T>A | CA494459677 | SCNN1G | c.1683T>A (p.Ile561=)
| |
16 | g.23215202T>C | CA494459678 | SCNN1G | c.1683T>C (p.Ile561=)
| |
16 | g.23215202T>G | CA395103445 | SCNN1G | c.1683T>G (p.Ile561Met)
| |
16 | g.23215203G>A | CA395103446 | SCNN1G | c.1684G>A (p.Ala562Thr)
| |
16 | g.23215203G>C | CA395103447 | SCNN1G | c.1684G>C (p.Ala562Pro)
| dbSNP |
16 | g.23215203G= | CA2213236738 | SCNN1G | c.1684G= (p.Ala562=)
| |
16 | g.23215203G>T | CA395103448 | SCNN1G | c.1684G>T (p.Ala562Ser)
| |
16 | g.23215204C>A | CA395103449 | SCNN1G | c.1685C>A (p.Ala562Asp)
| |
16 | g.23215204C= | CA2213236746 | SCNN1G | c.1685C= (p.Ala562=)
| |
16 | g.23215204C>G | CA395103450 | SCNN1G | c.1685C>G (p.Ala562Gly)
| |
16 | g.23215204C>T | CA7959956 | SCNN1G | c.1685C>T (p.Ala562Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215205C>A | CA494459680 | SCNN1G | c.1686C>A (p.Ala562=)
| |
16 | g.23215205C= | CA2213236749 | SCNN1G | c.1686C= (p.Ala562=)
| |
16 | g.23215205C>G | CA494459681 | SCNN1G | c.1686C>G (p.Ala562=)
| |
16 | g.23215205C>T | CA494459682 | SCNN1G | c.1686C>T (p.Ala562=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215206C>A | CA395103451 | SCNN1G | c.1687C>A (p.Arg563Ser)
| |
16 | g.23215206C= | CA2213236753 | SCNN1G | c.1687C= (p.Arg563=)
| |
16 | g.23215206C>G | CA395103452 | SCNN1G | c.1687C>G (p.Arg563Gly)
| |
16 | g.23215206C>T | CA395103453 | SCNN1G | c.1687C>T (p.Arg563Cys)
| dbSNP gnomAD v4 |
16 | g.23215207G>A | CA279470779 | SCNN1G | c.1688G>A (p.Arg563His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23215207G>C | CA395103454 | SCNN1G | c.1688G>C (p.Arg563Pro)
| |
16 | g.23215207G= | CA2213236757 | SCNN1G | c.1688G= (p.Arg563=)
| |
16 | g.23215207G>T | CA395103455 | SCNN1G | c.1688G>T (p.Arg563Leu)
| |
16 | g.23215208_23215214del | CA2632291776 | SCNN1G | c.1689_1695del (p.Arg564GlyfsTer?)
| gnomAD v4 |
16 | g.23215208C>A | CA494459684 | SCNN1G | c.1689C>A (p.Arg563=)
| |
16 | g.23215208C>G | CA494459685 | SCNN1G | c.1689C>G (p.Arg563=)
| |
16 | g.23215208C>T | CA494459686 | SCNN1G | c.1689C>T (p.Arg563=)
| |
16 | g.23215209C>A | CA395103457 | SCNN1G | c.1690C>A (p.Arg564Ser)
| |
16 | g.23215209C= | CA2213236762 | SCNN1G | c.1690C= (p.Arg564=)
| |
16 | g.23215209C>G | CA395103456 | SCNN1G | c.1690C>G (p.Arg564Gly)
| |
16 | g.23215209C>T | CA7959957 | SCNN1G | c.1690C>T (p.Arg564Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.23215210G>A | CA7959958 | SCNN1G | c.1691G>A (p.Arg564His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23215210G>C | CA395103458 | SCNN1G | c.1691G>C (p.Arg564Pro)
| |
16 | g.23215210G= | CA2213236768 | SCNN1G | c.1691G= (p.Arg564=)
| |
16 | g.23215210G>T | CA395103459 | SCNN1G | c.1691G>T (p.Arg564Leu)
| |
16 | g.23215211C>A | CA494459687 | SCNN1G | c.1692C>A (p.Arg564=)
| dbSNP gnomAD v4 |
16 | g.23215211C= | CA2213236771 | SCNN1G | c.1692C= (p.Arg564=)
| |
16 | g.23215211C>G | CA494459688 | SCNN1G | c.1692C>G (p.Arg564=)
| dbSNP |
16 | g.23215211C>T | CA494459689 | SCNN1G | c.1692C>T (p.Arg564=)
| |
16 | g.23215212C>A | CA395103460 | SCNN1G | c.1693C>A (p.Gln565Lys)
| |
16 | g.23215212C>G | CA395103461 | SCNN1G | c.1693C>G (p.Gln565Glu)
| |
16 | g.23215212C>T | CA395103462 | SCNN1G | c.1693C>T (p.Gln565Ter)
| |
16 | g.23215213A= | CA2213236772 | SCNN1G | c.1694A= (p.Gln565=)
| |
16 | g.23215213A>C | CA395103463 | SCNN1G | c.1694A>C (p.Gln565Pro)
| gnomAD v4 |
16 | g.23215213A>G | CA395103464 | SCNN1G | c.1694A>G (p.Gln565Arg)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215213A>T | CA395103465 | SCNN1G | c.1694A>T (p.Gln565Leu)
| |
16 | g.23215214G>A | CA494459690 | SCNN1G | c.1695G>A (p.Gln565=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215214G>C | CA395103466 | SCNN1G | c.1695G>C (p.Gln565His)
| |
16 | g.23215214G= | CA2213236778 | SCNN1G | c.1695G= (p.Gln565=)
| |
16 | g.23215214G>T | CA395103467 | SCNN1G | c.1695G>T (p.Gln565His)
| |
16 | g.23215215T>A | CA395103468 | SCNN1G | c.1696T>A (p.Trp566Arg)
| |
16 | g.23215215T>C | CA395103470 | SCNN1G | c.1696T>C (p.Trp566Arg)
| |
16 | g.23215215T>G | CA395103469 | SCNN1G | c.1696T>G (p.Trp566Gly)
| |
16 | g.23215216G>A | CA395103471 | SCNN1G | c.1697G>A (p.Trp566Ter)
| ClinVar dbSNP |
16 | g.23215216G>C | CA395103473 | SCNN1G | c.1697G>C (p.Trp566Ser)
| |
16 | g.23215216G= | CA2213236783 | SCNN1G | c.1697G= (p.Trp566=)
| |
16 | g.23215216G>T | CA395103472 | SCNN1G | c.1697G>T (p.Trp566Leu)
| |
16 | g.23215217G>A | CA395103474 | SCNN1G | c.1698G>A (p.Trp566Ter)
| dbSNP gnomAD v4 COSMIC |
16 | g.23215217G>C | CA395103476 | SCNN1G | c.1698G>C (p.Trp566Cys)
| |
16 | g.23215217G= | CA2213236786 | SCNN1G | c.1698G= (p.Trp566=)
| |
16 | g.23215217G>T | CA395103475 | SCNN1G | c.1698G>T (p.Trp566Cys)
| |
16 | g.23215218C>A | CA395103477 | SCNN1G | c.1699C>A (p.Gln567Lys)
| |
16 | g.23215218C>G | CA395103478 | SCNN1G | c.1699C>G (p.Gln567Glu)
| |
16 | g.23215218C>T | CA395103479 | SCNN1G | c.1699C>T (p.Gln567Ter)
| ClinVar dbSNP |
16 | g.23215219A>C | CA395103480 | SCNN1G | c.1700A>C (p.Gln567Pro)
| |
16 | g.23215219A>G | CA395103481 | SCNN1G | c.1700A>G (p.Gln567Arg)
| |
16 | g.23215219A>T | CA395103482 | SCNN1G | c.1700A>T (p.Gln567Leu)
| |
16 | g.23215220G>A | CA494459695 | SCNN1G | c.1701G>A (p.Gln567=)
| COSMIC |
16 | g.23215220G>C | CA395103483 | SCNN1G | c.1701G>C (p.Gln567His)
| |
16 | g.23215220G>T | CA395103484 | SCNN1G | c.1701G>T (p.Gln567His)
| |
16 | g.23215221A>C | CA395103485 | SCNN1G | c.1702A>C (p.Lys568Gln)
| |
16 | g.23215221A>G | CA395103486 | SCNN1G | c.1702A>G (p.Lys568Glu)
| |
16 | g.23215221A>T | CA395103487 | SCNN1G | c.1702A>T (p.Lys568Ter)
| |
16 | g.23215222A>C | CA395103490 | SCNN1G | c.1703A>C (p.Lys568Thr)
| |
16 | g.23215222A>G | CA395103489 | SCNN1G | c.1703A>G (p.Lys568Arg)
| gnomAD v4 |
16 | g.23215222A>T | CA395103488 | SCNN1G | c.1703A>T (p.Lys568Ile)
| |
16 | g.23215223A>C | CA395103491 | SCNN1G | c.1704A>C (p.Lys568Asn)
| COSMIC |
16 | g.23215223A>G | CA494459696 | SCNN1G | c.1704A>G (p.Lys568=)
| |
16 | g.23215223A>T | CA395103492 | SCNN1G | c.1704A>T (p.Lys568Asn)
| |
16 | g.23215224G>A | CA395103493 | SCNN1G | c.1705G>A (p.Ala569Thr)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215224G>C | CA395103494 | SCNN1G | c.1705G>C (p.Ala569Pro)
| |
16 | g.23215224G= | CA2213236791 | SCNN1G | c.1705G= (p.Ala569=)
| |
16 | g.23215224G>T | CA395103495 | SCNN1G | c.1705G>T (p.Ala569Ser)
| |
16 | g.23215225C>A | CA395103496 | SCNN1G | c.1706C>A (p.Ala569Asp)
| COSMIC |
16 | g.23215225C= | CA2213236800 | SCNN1G | c.1706C= (p.Ala569=)
| |
16 | g.23215225C>G | CA395103497 | SCNN1G | c.1706C>G (p.Ala569Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.23215225C>T | CA395103498 | SCNN1G | c.1706C>T (p.Ala569Val)
| gnomAD v4 |
16 | g.23215226C>A | CA494459703 | SCNN1G | c.1707C>A (p.Ala569=)
| |
16 | g.23215226C>G | CA494459701 | SCNN1G | c.1707C>G (p.Ala569=)
| |
16 | g.23215226C>T | CA494459700 | SCNN1G | c.1707C>T (p.Ala569=)
| gnomAD v4 |
16 | g.23215227A>C | CA395103499 | SCNN1G | c.1708A>C (p.Lys570Gln)
| |
16 | g.23215227A>G | CA395103500 | SCNN1G | c.1708A>G (p.Lys570Glu)
| |
16 | g.23215227A>T | CA395103501 | SCNN1G | c.1708A>T (p.Lys570Ter)
| |
16 | g.23215228A>C | CA395103504 | SCNN1G | c.1709A>C (p.Lys570Thr)
| |
16 | g.23215228A>G | CA395103503 | SCNN1G | c.1709A>G (p.Lys570Arg)
| |
16 | g.23215228A>T | CA395103502 | SCNN1G | c.1709A>T (p.Lys570Met)
| |
16 | g.23215229G>A | CA7959959 | SCNN1G | c.1710G>A (p.Lys570=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215229G>C | CA395103505 | SCNN1G | c.1710G>C (p.Lys570Asn)
| gnomAD v4 |
16 | g.23215229G= | CA2213236808 | SCNN1G | c.1710G= (p.Lys570=)
| |
16 | g.23215229G>T | CA395103506 | SCNN1G | c.1710G>T (p.Lys570Asn)
| |
16 | g.23215230G>A | CA395103507 | SCNN1G | c.1711G>A (p.Glu571Lys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.23215230G>C | CA395103508 | SCNN1G | c.1711G>C (p.Glu571Gln)
| |
16 | g.23215230G= | CA2213236811 | SCNN1G | c.1711G= (p.Glu571=)
| |
16 | g.23215230G>T | CA395103509 | SCNN1G | c.1711G>T (p.Glu571Ter)
| |
16 | g.23215231A>C | CA395103510 | SCNN1G | c.1712A>C (p.Glu571Ala)
| |
16 | g.23215231A>G | CA395103511 | SCNN1G | c.1712A>G (p.Glu571Gly)
| |
16 | g.23215231A>T | CA395103512 | SCNN1G | c.1712A>T (p.Glu571Val)
| gnomAD v4 |
16 | g.23215232G>A | CA494459708 | SCNN1G | c.1713G>A (p.Glu571=)
| |
16 | g.23215232G>C | CA395103513 | SCNN1G | c.1713G>C (p.Glu571Asp)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215232G= | CA2213236812 | SCNN1G | c.1713G= (p.Glu571=)
| |
16 | g.23215232G>T | CA395103514 | SCNN1G | c.1713G>T (p.Glu571Asp)
| gnomAD v4 |
16 | g.23215233T>A | CA395103515 | SCNN1G | c.1714T>A (p.Trp572Arg)
| |
16 | g.23215233T>C | CA279470795 | SCNN1G | c.1714T>C (p.Trp572Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215233T>G | CA7959960 | SCNN1G | c.1714T>G (p.Trp572Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23215233T= | CA2213236818 | SCNN1G | c.1714T= (p.Trp572=)
| |
16 | g.23215234G>A | CA395103516 | SCNN1G | c.1715G>A (p.Trp572Ter)
| |
16 | g.23215234G>C | CA395103517 | SCNN1G | c.1715G>C (p.Trp572Ser)
| |
16 | g.23215234G>T | CA395103518 | SCNN1G | c.1715G>T (p.Trp572Leu)
| COSMIC |
16 | g.23215235G>A | CA395103519 | SCNN1G | c.1716G>A (p.Trp572Ter)
| |
16 | g.23215235G>C | CA395103520 | SCNN1G | c.1716G>C (p.Trp572Cys)
| gnomAD v4 |
16 | g.23215235G= | CA2213236823 | SCNN1G | c.1716G= (p.Trp572=)
| |
16 | g.23215235G>T | CA395103521 | SCNN1G | c.1716G>T (p.Trp572Cys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.23215236T>A | CA395103522 | SCNN1G | c.1717T>A (p.Trp573Arg)
| |
16 | g.23215236T>C | CA395103523 | SCNN1G | c.1717T>C (p.Trp573Arg)
| |
16 | g.23215236T>G | CA395103524 | SCNN1G | c.1717T>G (p.Trp573Gly)
| |
16 | g.23215237G>A | CA119950 | SCNN1G | c.1718G>A (p.Trp573Ter)
| ClinVar dbSNP |
16 | g.23215237G>C | CA395103525 | SCNN1G | c.1718G>C (p.Trp573Ser)
| |
16 | g.23215237G= | CA2213236827 | SCNN1G | c.1718G= (p.Trp573=)
| |
16 | g.23215237G>T | CA395103526 | SCNN1G | c.1718G>T (p.Trp573Leu)
| |
16 | g.23215238G>A | CA395103529 | SCNN1G | c.1719G>A (p.Trp573Ter)
| |
16 | g.23215238G>C | CA395103528 | SCNN1G | c.1719G>C (p.Trp573Cys)
| |
16 | g.23215238G>T | CA395103527 | SCNN1G | c.1719G>T (p.Trp573Cys)
| |
16 | g.23215239G>A | CA395103530 | SCNN1G | c.1720G>A (p.Ala574Thr)
| gnomAD v4 |
16 | g.23215239G>C | CA395103532 | SCNN1G | c.1720G>C (p.Ala574Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23215239G= | CA2213236834 | SCNN1G | c.1720G= (p.Ala574=)
| |
16 | g.23215239G>T | CA395103531 | SCNN1G | c.1720G>T (p.Ala574Ser)
| gnomAD v4 |
16 | g.23215240C>A | CA395103533 | SCNN1G | c.1721C>A (p.Ala574Asp)
| gnomAD v4 |
16 | g.23215240C>G | CA395103534 | SCNN1G | c.1721C>G (p.Ala574Gly)
| |
16 | g.23215240C>T | CA395103535 | SCNN1G | c.1721C>T (p.Ala574Val)
| COSMIC |
16 | g.23215241C>A | CA494459715 | SCNN1G | c.1722C>A (p.Ala574=)
| |
16 | g.23215241C>G | CA494459713 | SCNN1G | c.1722C>G (p.Ala574=)
| |
16 | g.23215241C>T | CA494459712 | SCNN1G | c.1722C>T (p.Ala574=)
| |
16 | g.23215242T>A | CA395103536 | SCNN1G | c.1723T>A (p.Trp575Arg)
| |
16 | g.23215242T>C | CA395103537 | SCNN1G | c.1723T>C (p.Trp575Arg)
| dbSNP gnomAD v2 |
16 | g.23215242T>G | CA395103538 | SCNN1G | c.1723T>G (p.Trp575Gly)
| |
16 | g.23215242T= | CA2213236837 | SCNN1G | c.1723T= (p.Trp575=)
| |
16 | g.23215243G>A | CA395103539 | SCNN1G | c.1724G>A (p.Trp575Ter)
| |
16 | g.23215243G>C | CA395103540 | SCNN1G | c.1724G>C (p.Trp575Ser)
| ClinVar dbSNP |
16 | g.23215243G= | CA2213236844 | SCNN1G | c.1724G= (p.Trp575=)
| |
16 | g.23215243G>T | CA395103541 | SCNN1G | c.1724G>T (p.Trp575Leu)
| |
16 | g.23215244G>A | CA395103542 | SCNN1G | c.1725G>A (p.Trp575Ter)
| |
16 | g.23215244G>C | CA395103543 | SCNN1G | c.1725G>C (p.Trp575Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23215244G= | CA2213236850 | SCNN1G | c.1725G= (p.Trp575=)
| |
16 | g.23215244G>T | CA395103544 | SCNN1G | c.1725G>T (p.Trp575Cys)
| |
16 | g.23215245A>C | CA395103545 | SCNN1G | c.1726A>C (p.Lys576Gln)
| |
16 | g.23215245A>G | CA395103547 | SCNN1G | c.1726A>G (p.Lys576Glu)
| |
16 | g.23215245A>T | CA395103546 | SCNN1G | c.1726A>T (p.Lys576Ter)
| |
16 | g.23215246A>C | CA395103548 | SCNN1G | c.1727A>C (p.Lys576Thr)
| |
16 | g.23215246A>G | CA395103549 | SCNN1G | c.1727A>G (p.Lys576Arg)
| |
16 | g.23215246A>T | CA395103550 | SCNN1G | c.1727A>T (p.Lys576Ile)
| |
16 | g.23215247A>C | CA395103551 | SCNN1G | c.1728A>C (p.Lys576Asn)
| |
16 | g.23215247A>G | CA494459718 | SCNN1G | c.1728A>G (p.Lys576=)
| |
16 | g.23215247A>T | CA395103552 | SCNN1G | c.1728A>T (p.Lys576Asn)
| |
16 | g.23215247_23215263delinsACAGGCTCCCCCATGTC | CA2213236854 | SCNN1G | c.1728_1744delinsACAGGCTCCCCCATGTC (p.Lys576=)
| |
16 | g.23215248C>A | CA395103553 | SCNN1G | c.1729C>A (p.Gln577Lys)
| |
16 | g.23215248C>G | CA395103554 | SCNN1G | c.1729C>G (p.Gln577Glu)
| |
16 | g.23215248C>T | CA395103555 | SCNN1G | c.1729C>T (p.Gln577Ter)
| gnomAD v4 |
16 | g.23215251_23215266del | CA7959961 | SCNN1G | c.1732_1747del (p.Ala578LysfsTer16)
| dbSNP ExAC gnomAD v2 |