19 | g.35845668C>A | CA405399608 | NPHS1 | c.1757+1G>T (n.1757+1G>T)
| |
19 | g.35845668C= | CA2333849049 | NPHS1 | c.1757+1G= (n.1757+1G=)
| |
19 | g.35845668C>G | CA405399609 | NPHS1 | c.1757+1G>C (n.1757+1G>C)
| |
19 | g.35845668C>T | CA405399610 | NPHS1 | c.1757+1G>A (n.1757+1G>A)
| ClinVar dbSNP |
19 | g.35845669C>A | CA405399611 | NPHS1 | c.1757G>T (p.Arg586Met)
| |
19 | g.35845669C= | CA2333849050 | NPHS1 | c.1757G= (p.Arg586=)
| |
19 | g.35845669C>G | CA405399613 | NPHS1 | c.1757G>C (p.Arg586Thr)
| gnomAD v4 |
19 | g.35845669C>T | CA405399612 | NPHS1 | c.1757G>A (p.Arg586Lys)
| dbSNP |
19 | g.35845670T>A | CA405399614 | NPHS1 | c.1756A>T (p.Arg586Trp)
| |
19 | g.35845670T>C | CA346566 | NPHS1 | c.1756A>G (p.Arg586Gly)
| ClinVar dbSNP |
19 | g.35845670T>G | CA507314204 | NPHS1 | c.1756A>C (p.Arg586=)
| |
19 | g.35845670T= | CA2333849051 | NPHS1 | c.1756A= (p.Arg586=)
| |
19 | g.35845671C>A | CA405399615 | NPHS1 | c.1755G>T (p.Glu585Asp)
| |
19 | g.35845671C>G | CA405399616 | NPHS1 | c.1755G>C (p.Glu585Asp)
| |
19 | g.35845671C>T | CA507314205 | NPHS1 | c.1755G>A (p.Glu585=)
| gnomAD v4 |
19 | g.35845672T>A | CA9390350 | NPHS1 | c.1754A>T (p.Glu585Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845672T>C | CA405399618 | NPHS1 | c.1754A>G (p.Glu585Gly)
| |
19 | g.35845672T>G | CA405399617 | NPHS1 | c.1754A>C (p.Glu585Ala)
| |
19 | g.35845672T= | CA2333849052 | NPHS1 | c.1754A= (p.Glu585=)
| |
19 | g.35845673C>A | CA405399619 | NPHS1 | c.1753G>T (p.Glu585Ter)
| |
19 | g.35845673C= | CA2333849053 | NPHS1 | c.1753G= (p.Glu585=)
| |
19 | g.35845673C>G | CA405399620 | NPHS1 | c.1753G>C (p.Glu585Gln)
| |
19 | g.35845673C>T | CA405399621 | NPHS1 | c.1753G>A (p.Glu585Lys)
| dbSNP gnomAD v4 |
19 | g.35845676del | CA2573156278 | NPHS1 | c.1753del (p.Glu585ArgfsTer?)
| ClinVar dbSNP |
19 | g.35845674C>A | CA507314208 | NPHS1 | c.1752G>T (p.Gly584=)
| |
19 | g.35845674C= | CA2333849054 | NPHS1 | c.1752G= (p.Gly584=)
| |
19 | g.35845674C>G | CA507314207 | NPHS1 | c.1752G>C (p.Gly584=)
| |
19 | g.35845674C>T | CA507314206 | NPHS1 | c.1752G>A (p.Gly584=)
| dbSNP gnomAD v4 |
19 | g.35845675C>A | CA405399622 | NPHS1 | c.1751G>T (p.Gly584Val)
| |
19 | g.35845675C= | CA2333849055 | NPHS1 | c.1751G= (p.Gly584=)
| |
19 | g.35845675C>G | CA405399623 | NPHS1 | c.1751G>C (p.Gly584Ala)
| dbSNP |
19 | g.35845675C>T | CA405399624 | NPHS1 | c.1751G>A (p.Gly584Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845676C>A | CA405399627 | NPHS1 | c.1750G>T (p.Gly584Trp)
| dbSNP |
19 | g.35845676C= | CA2333849056 | NPHS1 | c.1750G= (p.Gly584=)
| |
19 | g.35845676C>G | CA405399625 | NPHS1 | c.1750G>C (p.Gly584Arg)
| |
19 | g.35845676C>T | CA405399626 | NPHS1 | c.1750G>A (p.Gly584Arg)
| |
19 | g.35845677T>A | CA405399628 | NPHS1 | c.1749A>T (p.Glu583Asp)
| |
19 | g.35845677T>C | CA507314212 | NPHS1 | c.1749A>G (p.Glu583=)
| ClinVar dbSNP |
19 | g.35845677T>G | CA405399629 | NPHS1 | c.1749A>C (p.Glu583Asp)
| |
19 | g.35845678del | CA2695198191 | NPHS1 | c.1749del (p.Glu585ArgfsTer?)
| ClinVar |
19 | g.35845678_35845682del | CA2580096850 | NPHS1 | c.1745_1749del (p.Lys582ArgfsTer?)
| ClinVar gnomAD v4 |
19 | g.35845678T>A | CA405399630 | NPHS1 | c.1748A>T (p.Glu583Val)
| |
19 | g.35845678T>C | CA405399631 | NPHS1 | c.1748A>G (p.Glu583Gly)
| |
19 | g.35845678T>G | CA405399632 | NPHS1 | c.1748A>C (p.Glu583Ala)
| |
19 | g.35845679C>A | CA405399633 | NPHS1 | c.1747G>T (p.Glu583Ter)
| |
19 | g.35845679C= | CA2333849057 | NPHS1 | c.1747G= (p.Glu583=)
| |
19 | g.35845679C>G | CA405399634 | NPHS1 | c.1747G>C (p.Glu583Gln)
| |
19 | g.35845679C>T | CA9390351 | NPHS1 | c.1747G>A (p.Glu583Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845680C>A | CA405399635 | NPHS1 | c.1746G>T (p.Lys582Asn)
| |
19 | g.35845680C= | CA2333849059 | NPHS1 | c.1746G= (p.Lys582=)
| |
19 | g.35845680C>G | CA405399636 | NPHS1 | c.1746G>C (p.Lys582Asn)
| gnomAD v4 |
19 | g.35845680C>T | CA507314216 | NPHS1 | c.1746G>A (p.Lys582=)
| dbSNP gnomAD v4 |
19 | g.35845680_35845681delinsCT | CA2333849058 | NPHS1 | c.1745_1746delinsAG (p.Lys582=)
| |
19 | g.35845681T>A | CA405399637 | NPHS1 | c.1745A>T (p.Lys582Met)
| |
19 | g.35845681T>C | CA405399638 | NPHS1 | c.1745A>G (p.Lys582Arg)
| gnomAD v4 |
19 | g.35845681T>G | CA405399639 | NPHS1 | c.1745A>C (p.Lys582Thr)
| |
19 | g.35845682del | CA16041978 | NPHS1 | c.1745del (p.Lys582ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845682T>A | CA405399640 | NPHS1 | c.1744A>T (p.Lys582Ter)
| |
19 | g.35845682T>C | CA405399641 | NPHS1 | c.1744A>G (p.Lys582Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845682T>G | CA405399642 | NPHS1 | c.1744A>C (p.Lys582Gln)
| |
19 | g.35845682T= | CA2333849060 | NPHS1 | c.1744A= (p.Lys582=)
| |
19 | g.35845683G>A | CA507314203 | NPHS1 | c.1743C>T (p.Asp581=)
| |
19 | g.35845683G>C | CA405399643 | NPHS1 | c.1743C>G (p.Asp581Glu)
| dbSNP |
19 | g.35845683G= | CA2333849061 | NPHS1 | c.1743C= (p.Asp581=)
| |
19 | g.35845683G>T | CA405399644 | NPHS1 | c.1743C>A (p.Asp581Glu)
| |
19 | g.35845684T>A | CA405399645 | NPHS1 | c.1742A>T (p.Asp581Val)
| dbSNP gnomAD v4 |
19 | g.35845684T>C | CA405399647 | NPHS1 | c.1742A>G (p.Asp581Gly)
| |
19 | g.35845684T>G | CA405399646 | NPHS1 | c.1742A>C (p.Asp581Ala)
| |
19 | g.35845684T= | CA2333849062 | NPHS1 | c.1742A= (p.Asp581=)
| |
19 | g.35845685C>A | CA405399648 | NPHS1 | c.1741G>T (p.Asp581Tyr)
| |
19 | g.35845685C= | CA2333849063 | NPHS1 | c.1741G= (p.Asp581=)
| |
19 | g.35845685C>G | CA405399649 | NPHS1 | c.1741G>C (p.Asp581His)
| |
19 | g.35845685C>T | CA9390352 | NPHS1 | c.1741G>A (p.Asp581Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845686C>A | CA405399650 | NPHS1 | c.1740G>T (p.Trp580Cys)
| |
19 | g.35845686C>G | CA405399651 | NPHS1 | c.1740G>C (p.Trp580Cys)
| |
19 | g.35845686C>T | CA405399652 | NPHS1 | c.1740G>A (p.Trp580Ter)
| |
19 | g.35845687C>A | CA405399655 | NPHS1 | c.1739G>T (p.Trp580Leu)
| |
19 | g.35845687C>G | CA405399654 | NPHS1 | c.1739G>C (p.Trp580Ser)
| |
19 | g.35845687C>T | CA405399653 | NPHS1 | c.1739G>A (p.Trp580Ter)
| |
19 | g.35845688A>C | CA405399656 | NPHS1 | c.1738T>G (p.Trp580Gly)
| |
19 | g.35845688A>G | CA405399657 | NPHS1 | c.1738T>C (p.Trp580Arg)
| |
19 | g.35845688A>T | CA405399658 | NPHS1 | c.1738T>A (p.Trp580Arg)
| |
19 | g.35845689G>A | CA507314209 | NPHS1 | c.1737C>T (p.Ser579=)
| ClinVar gnomAD v4 |
19 | g.35845689G>C | CA507314210 | NPHS1 | c.1737C>G (p.Ser579=)
| |
19 | g.35845689G>T | CA507314211 | NPHS1 | c.1737C>A (p.Ser579=)
| |
19 | g.35845690G>A | CA405399659 | NPHS1 | c.1736C>T (p.Ser579Phe)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845690G>C | CA405399660 | NPHS1 | c.1736C>G (p.Ser579Cys)
| |
19 | g.35845690G= | CA2333849064 | NPHS1 | c.1736C= (p.Ser579=)
| |
19 | g.35845690G>T | CA9390353 | NPHS1 | c.1736C>A (p.Ser579Tyr)
| dbSNP ExAC gnomAD v2 |
19 | g.35845691A>C | CA405399661 | NPHS1 | c.1735T>G (p.Ser579Ala)
| |
19 | g.35845691A>G | CA405399663 | NPHS1 | c.1735T>C (p.Ser579Pro)
| |
19 | g.35845691A>T | CA405399662 | NPHS1 | c.1735T>A (p.Ser579Thr)
| |
19 | g.35845692C>A | CA405399664 | NPHS1 | c.1734G>T (p.Leu578Phe)
| dbSNP gnomAD v4 |
19 | g.35845692C= | CA2333849065 | NPHS1 | c.1734G= (p.Leu578=)
| |
19 | g.35845692C>G | CA405399665 | NPHS1 | c.1734G>C (p.Leu578Phe)
| |
19 | g.35845692C>T | CA507314213 | NPHS1 | c.1734G>A (p.Leu578=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845693A>C | CA405399666 | NPHS1 | c.1733T>G (p.Leu578Trp)
| |
19 | g.35845693A>G | CA405399667 | NPHS1 | c.1733T>C (p.Leu578Ser)
| |
19 | g.35845693A>T | CA405399668 | NPHS1 | c.1733T>A (p.Leu578Ter)
| |
19 | g.35845694A= | CA2333849066 | NPHS1 | c.1732T= (p.Leu578=)
| |
19 | g.35845694A>C | CA405399669 | NPHS1 | c.1732T>G (p.Leu578Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845694A>G | CA507314214 | NPHS1 | c.1732T>C (p.Leu578=)
| dbSNP |
19 | g.35845694A>T | CA405399670 | NPHS1 | c.1732T>A (p.Leu578Met)
| gnomAD v4 |
19 | g.35845695G>A | CA507314215 | NPHS1 | c.1731C>T (p.Asn577=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845695G>C | CA405399671 | NPHS1 | c.1731C>G (p.Asn577Lys)
| |
19 | g.35845695G= | CA2333849067 | NPHS1 | c.1731C= (p.Asn577=)
| |
19 | g.35845695G>T | CA9390354 | NPHS1 | c.1731C>A (p.Asn577Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845696T>A | CA405399672 | NPHS1 | c.1730A>T (p.Asn577Ile)
| |
19 | g.35845696T>C | CA405399673 | NPHS1 | c.1730A>G (p.Asn577Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845696T>G | CA405399674 | NPHS1 | c.1730A>C (p.Asn577Thr)
| |
19 | g.35845696T= | CA2333849068 | NPHS1 | c.1730A= (p.Asn577=)
| |
19 | g.35845697del | CA2695228618 | NPHS1 | c.1730del (p.Asn577ThrfsTer?)
| |
19 | g.35845697T>A | CA405399675 | NPHS1 | c.1729A>T (p.Asn577Tyr)
| |
19 | g.35845697T>C | CA405399677 | NPHS1 | c.1729A>G (p.Asn577Asp)
| |
19 | g.35845697T>G | CA405399676 | NPHS1 | c.1729A>C (p.Asn577His)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845697T= | CA2333849069 | NPHS1 | c.1729A= (p.Asn577=)
| |
19 | g.35845698G>A | CA507314217 | NPHS1 | c.1728C>T (p.Val576=)
| |
19 | g.35845698G>C | CA507314218 | NPHS1 | c.1728C>G (p.Val576=)
| |
19 | g.35845698G>T | CA507314219 | NPHS1 | c.1728C>A (p.Val576=)
| gnomAD v4 |
19 | g.35845699A= | CA2333849070 | NPHS1 | c.1727T= (p.Val576=)
| |
19 | g.35845699A>C | CA405399678 | NPHS1 | c.1727T>G (p.Val576Gly)
| |
19 | g.35845699A>G | CA9390355 | NPHS1 | c.1727T>C (p.Val576Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845699A>T | CA405399679 | NPHS1 | c.1727T>A (p.Val576Asp)
| |
19 | g.35845700C>A | CA405399680 | NPHS1 | c.1726G>T (p.Val576Phe)
| ClinVar dbSNP |
19 | g.35845700C= | CA2333849071 | NPHS1 | c.1726G= (p.Val576=)
| |
19 | g.35845700C>G | CA405399681 | NPHS1 | c.1726G>C (p.Val576Leu)
| gnomAD v4 |
19 | g.35845700C>T | CA405399682 | NPHS1 | c.1726G>A (p.Val576Ile)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845701C>A | CA9390356 | NPHS1 | c.1725G>T (p.Pro575=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845701C= | CA2333849072 | NPHS1 | c.1725G= (p.Pro575=)
| |
19 | g.35845701C>G | CA9390358 | NPHS1 | c.1725G>C (p.Pro575=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845701C>T | CA9390357 | NPHS1 | c.1725G>A (p.Pro575=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845702G>A | CA405399683 | NPHS1 | c.1724C>T (p.Pro575Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845702G>C | CA405399684 | NPHS1 | c.1724C>G (p.Pro575Arg)
| |
19 | g.35845702G= | CA2333849073 | NPHS1 | c.1724C= (p.Pro575=)
| |
19 | g.35845702G>T | CA250138 | NPHS1 | c.1724C>A (p.Pro575Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845703G>A | CA405399687 | NPHS1 | c.1723C>T (p.Pro575Ser)
| gnomAD v4 |
19 | g.35845703G>C | CA405399685 | NPHS1 | c.1723C>G (p.Pro575Ala)
| |
19 | g.35845703G>T | CA405399686 | NPHS1 | c.1723C>A (p.Pro575Thr)
| |
19 | g.35845704C>A | CA507314220 | NPHS1 | c.1722G>T (p.Pro574=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845704C= | CA2333849074 | NPHS1 | c.1722G= (p.Pro574=)
| |
19 | g.35845704C>G | CA507314221 | NPHS1 | c.1722G>C (p.Pro574=)
| |
19 | g.35845704C>T | CA507314222 | NPHS1 | c.1722G>A (p.Pro574=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845705G>A | CA405399688 | NPHS1 | c.1721C>T (p.Pro574Leu)
| |
19 | g.35845705G>C | CA405399689 | NPHS1 | c.1721C>G (p.Pro574Arg)
| dbSNP |
19 | g.35845705G= | CA2333849075 | NPHS1 | c.1721C= (p.Pro574=)
| |
19 | g.35845705G>T | CA307785212 | NPHS1 | c.1721C>A (p.Pro574Gln)
| dbSNP gnomAD v4 |
19 | g.35845706G>A | CA405399690 | NPHS1 | c.1720C>T (p.Pro574Ser)
| |
19 | g.35845706G>C | CA405399691 | NPHS1 | c.1720C>G (p.Pro574Ala)
| |
19 | g.35845706G>T | CA405399692 | NPHS1 | c.1720C>A (p.Pro574Thr)
| |
19 | g.35845707A>C | CA405399693 | NPHS1 | c.1719T>G (p.Asn573Lys)
| |
19 | g.35845707A>G | CA507314223 | NPHS1 | c.1719T>C (p.Asn573=)
| |
19 | g.35845707A>T | CA405399694 | NPHS1 | c.1719T>A (p.Asn573Lys)
| |
19 | g.35845708T>A | CA405399695 | NPHS1 | c.1718A>T (p.Asn573Ile)
| |
19 | g.35845708T>C | CA405399696 | NPHS1 | c.1718A>G (p.Asn573Ser)
| |
19 | g.35845708T>G | CA405399697 | NPHS1 | c.1718A>C (p.Asn573Thr)
| |
19 | g.35845709T>A | CA405399698 | NPHS1 | c.1717A>T (p.Asn573Tyr)
| |
19 | g.35845709T>C | CA405399700 | NPHS1 | c.1717A>G (p.Asn573Asp)
| |
19 | g.35845709T>G | CA405399699 | NPHS1 | c.1717A>C (p.Asn573His)
| |
19 | g.35845710G>A | CA507314224 | NPHS1 | c.1716C>T (p.Ser572=)
| |
19 | g.35845710G>C | CA405399701 | NPHS1 | c.1716C>G (p.Ser572Arg)
| |
19 | g.35845710G>T | CA405399702 | NPHS1 | c.1716C>A (p.Ser572Arg)
| gnomAD v4 |
19 | g.35845711C>A | CA405399703 | NPHS1 | c.1715G>T (p.Ser572Ile)
| |
19 | g.35845711C= | CA2333849076 | NPHS1 | c.1715G= (p.Ser572=)
| |
19 | g.35845711C>G | CA405399704 | NPHS1 | c.1715G>C (p.Ser572Thr)
| |
19 | g.35845711C>T | CA250136 | NPHS1 | c.1715G>A (p.Ser572Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845712T>A | CA405399705 | NPHS1 | c.1714A>T (p.Ser572Cys)
| |
19 | g.35845712T>C | CA9390359 | NPHS1 | c.1714A>G (p.Ser572Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845712T>G | CA405399706 | NPHS1 | c.1714A>C (p.Ser572Arg)
| gnomAD v4 |
19 | g.35845712T= | CA2333849077 | NPHS1 | c.1714A= (p.Ser572=)
| |
19 | g.35845713del | CA2695228621 | NPHS1 | c.1713del (p.Ser571ArgfsTer?)
| |
19 | g.35845713G>A | CA507314225 | NPHS1 | c.1713C>T (p.Ser571=)
| |
19 | g.35845713G>C | CA405399707 | NPHS1 | c.1713C>G (p.Ser571Arg)
| |
19 | g.35845713G>T | CA405399708 | NPHS1 | c.1713C>A (p.Ser571Arg)
| |
19 | g.35845714C>A | CA405399709 | NPHS1 | c.1712G>T (p.Ser571Ile)
| |
19 | g.35845714C>G | CA405399710 | NPHS1 | c.1712G>C (p.Ser571Thr)
| |
19 | g.35845714C>T | CA405399711 | NPHS1 | c.1712G>A (p.Ser571Asn)
| |
19 | g.35845715T>A | CA405399714 | NPHS1 | c.1711A>T (p.Ser571Cys)
| |
19 | g.35845715T>C | CA405399713 | NPHS1 | c.1711A>G (p.Ser571Gly)
| |
19 | g.35845715T>G | CA405399712 | NPHS1 | c.1711A>C (p.Ser571Arg)
| |
19 | g.35845716G>A | CA507314226 | NPHS1 | c.1710C>T (p.Val570=)
| |
19 | g.35845716G>C | CA507314227 | NPHS1 | c.1710C>G (p.Val570=)
| |
19 | g.35845716G>T | CA507314228 | NPHS1 | c.1710C>A (p.Val570=)
| |
19 | g.35845717A>C | CA405399715 | NPHS1 | c.1709T>G (p.Val570Gly)
| |
19 | g.35845717A>G | CA405399716 | NPHS1 | c.1709T>C (p.Val570Ala)
| |
19 | g.35845717A>T | CA405399717 | NPHS1 | c.1709T>A (p.Val570Asp)
| |
19 | g.35845718C>A | CA405399718 | NPHS1 | c.1708G>T (p.Val570Phe)
| gnomAD v4 |
19 | g.35845718C>G | CA405399719 | NPHS1 | c.1708G>C (p.Val570Leu)
| |
19 | g.35845718C>T | CA405399720 | NPHS1 | c.1708G>A (p.Val570Ile)
| |
19 | g.35845719G>A | CA507314229 | NPHS1 | c.1707C>T (p.Ser569=)
| gnomAD v4 |
19 | g.35845719G>C | CA250134 | NPHS1 | c.1707C>G (p.Ser569Arg)
| ClinVar dbSNP |
19 | g.35845719G= | CA2333849078 | NPHS1 | c.1707C= (p.Ser569=)
| |
19 | g.35845719G>T | CA405399722 | NPHS1 | c.1707C>A (p.Ser569Arg)
| |
19 | g.35845720C>A | CA405399723 | NPHS1 | c.1706G>T (p.Ser569Ile)
| |
19 | g.35845720C>G | CA405399724 | NPHS1 | c.1706G>C (p.Ser569Thr)
| |
19 | g.35845720C>T | CA405399725 | NPHS1 | c.1706G>A (p.Ser569Asn)
| |
19 | g.35845721T>A | CA405399726 | NPHS1 | c.1705A>T (p.Ser569Cys)
| |
19 | g.35845721T>C | CA405399727 | NPHS1 | c.1705A>G (p.Ser569Gly)
| |
19 | g.35845721T>G | CA405399728 | NPHS1 | c.1705A>C (p.Ser569Arg)
| |
19 | g.35845722G>A | CA507314232 | NPHS1 | c.1704C>T (p.Val568=)
| |
19 | g.35845722G>C | CA507314230 | NPHS1 | c.1704C>G (p.Val568=)
| |
19 | g.35845722G>T | CA507314231 | NPHS1 | c.1704C>A (p.Val568=)
| |
19 | g.35845723A= | CA2333849079 | NPHS1 | c.1703T= (p.Val568=)
| |
19 | g.35845723A>C | CA405399730 | NPHS1 | c.1703T>G (p.Val568Gly)
| |
19 | g.35845723A>G | CA9390360 | NPHS1 | c.1703T>C (p.Val568Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845723A>T | CA405399729 | NPHS1 | c.1703T>A (p.Val568Asp)
| |
19 | g.35845724C>A | CA405399731 | NPHS1 | c.1702G>T (p.Val568Phe)
| |
19 | g.35845724C>G | CA405399734 | NPHS1 | c.1702G>C (p.Val568Leu)
| |
19 | g.35845724C>T | CA405399736 | NPHS1 | c.1702G>A (p.Val568Ile)
| gnomAD v4 |
19 | g.35845725G>A | CA507314233 | NPHS1 | c.1701C>T (p.Cys567=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845725G>C | CA405399739 | NPHS1 | c.1701C>G (p.Cys567Trp)
| |
19 | g.35845725G= | CA2333849080 | NPHS1 | c.1701C= (p.Cys567=)
| |
19 | g.35845725G>T | CA250131 | NPHS1 | c.1701C>A (p.Cys567Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845726C>A | CA405399743 | NPHS1 | c.1700G>T (p.Cys567Phe)
| |
19 | g.35845726C>G | CA405399745 | NPHS1 | c.1700G>C (p.Cys567Ser)
| |
19 | g.35845726C>T | CA405399748 | NPHS1 | c.1700G>A (p.Cys567Tyr)
| |
19 | g.35845727A= | CA2333849081 | NPHS1 | c.1699T= (p.Cys567=)
| |
19 | g.35845727A>C | CA405399751 | NPHS1 | c.1699T>G (p.Cys567Gly)
| gnomAD v4 |
19 | g.35845727A>G | CA405399753 | NPHS1 | c.1699T>C (p.Cys567Arg)
| gnomAD v4 |
19 | g.35845727A>T | CA405399755 | NPHS1 | c.1699T>A (p.Cys567Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845728T>A | CA9390361 | NPHS1 | c.1698A>T (p.Thr566=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845728T>C | CA9390362 | NPHS1 | c.1698A>G (p.Thr566=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845728T>G | CA507314234 | NPHS1 | c.1698A>C (p.Thr566=)
| |
19 | g.35845728T= | CA2333849082 | NPHS1 | c.1698A= (p.Thr566=)
| |
19 | g.35845729G>A | CA405399766 | NPHS1 | c.1697C>T (p.Thr566Ile)
| |
19 | g.35845729G>C | CA405399762 | NPHS1 | c.1697C>G (p.Thr566Arg)
| |
19 | g.35845729G>T | CA405399764 | NPHS1 | c.1697C>A (p.Thr566Lys)
| |
19 | g.35845730T>A | CA405399768 | NPHS1 | c.1696A>T (p.Thr566Ser)
| |
19 | g.35845730T>C | CA405399770 | NPHS1 | c.1696A>G (p.Thr566Ala)
| COSMIC |
19 | g.35845730T>G | CA405399772 | NPHS1 | c.1696A>C (p.Thr566Pro)
| |
19 | g.35845731C>A | CA405399775 | NPHS1 | c.1695G>T (p.Leu565Phe)
| |
19 | g.35845731C= | CA2333849083 | NPHS1 | c.1695G= (p.Leu565=)
| |
19 | g.35845731C>G | CA9390363 | NPHS1 | c.1695G>C (p.Leu565Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845731C>T | CA507314235 | NPHS1 | c.1695G>A (p.Leu565=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845732A>C | CA405399778 | NPHS1 | c.1694T>G (p.Leu565Trp)
| |
19 | g.35845732A>G | CA405399780 | NPHS1 | c.1694T>C (p.Leu565Ser)
| |
19 | g.35845732A>T | CA405399782 | NPHS1 | c.1694T>A (p.Leu565Ter)
| |
19 | g.35845733A>C | CA405399785 | NPHS1 | c.1693T>G (p.Leu565Val)
| |
19 | g.35845733A>G | CA507314236 | NPHS1 | c.1693T>C (p.Leu565=)
| ClinVar |
19 | g.35845733A>T | CA405399787 | NPHS1 | c.1693T>A (p.Leu565Met)
| |
19 | g.35845734G>A | CA507314237 | NPHS1 | c.1692C>T (p.Asn564=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845734G>C | CA405399790 | NPHS1 | c.1692C>G (p.Asn564Lys)
| |
19 | g.35845734G>T | CA405399792 | NPHS1 | c.1692C>A (p.Asn564Lys)
| |
19 | g.35845735T>A | CA405399794 | NPHS1 | c.1691A>T (p.Asn564Ile)
| |
19 | g.35845735T>C | CA405399797 | NPHS1 | c.1691A>G (p.Asn564Ser)
| |
19 | g.35845735T>G | CA405399795 | NPHS1 | c.1691A>C (p.Asn564Thr)
| |
19 | g.35845736T>A | CA405399800 | NPHS1 | c.1690A>T (p.Asn564Tyr)
| |
19 | g.35845736T>C | CA405399804 | NPHS1 | c.1690A>G (p.Asn564Asp)
| |
19 | g.35845736T>G | CA405399802 | NPHS1 | c.1690A>C (p.Asn564His)
| |
19 | g.35845737T>A | CA405399807 | NPHS1 | c.1689A>T (p.Leu563Phe)
| |
19 | g.35845737T>C | CA507314238 | NPHS1 | c.1689A>G (p.Leu563=)
| gnomAD v4 |
19 | g.35845737T>G | CA405399808 | NPHS1 | c.1689A>C (p.Leu563Phe)
| |
19 | g.35845738A>C | CA405399811 | NPHS1 | c.1688T>G (p.Leu563Ter)
| |
19 | g.35845738A>G | CA405399813 | NPHS1 | c.1688T>C (p.Leu563Ser)
| |
19 | g.35845738A>T | CA405399815 | NPHS1 | c.1688T>A (p.Leu563Ter)
| |
19 | g.35845739A>C | CA405399818 | NPHS1 | c.1687T>G (p.Leu563Val)
| |
19 | g.35845739A>G | CA507314239 | NPHS1 | c.1687T>C (p.Leu563=)
| |
19 | g.35845739A>T | CA405399820 | NPHS1 | c.1687T>A (p.Leu563Ile)
| |
19 | g.35845740G>A | CA507314240 | NPHS1 | c.1686C>T (p.Ala562=)
| gnomAD v4 |
19 | g.35845740G>C | CA507314241 | NPHS1 | c.1686C>G (p.Ala562=)
| |
19 | g.35845740G>T | CA507314242 | NPHS1 | c.1686C>A (p.Ala562=)
| |
19 | g.35845741G>A | CA405399823 | NPHS1 | c.1685C>T (p.Ala562Val)
| |
19 | g.35845741G>C | CA405399825 | NPHS1 | c.1685C>G (p.Ala562Gly)
| |
19 | g.35845741G>T | CA405399827 | NPHS1 | c.1685C>A (p.Ala562Asp)
| |
19 | g.35845742C>A | CA405399834 | NPHS1 | c.1684G>T (p.Ala562Ser)
| gnomAD v4 |
19 | g.35845742C>G | CA405399832 | NPHS1 | c.1684G>C (p.Ala562Pro)
| |
19 | g.35845742C>T | CA405399830 | NPHS1 | c.1684G>A (p.Ala562Thr)
| gnomAD v4 |
19 | g.35845743G>A | CA507314243 | NPHS1 | c.1683C>T (p.Asp561=)
| |
19 | g.35845743G>C | CA405399836 | NPHS1 | c.1683C>G (p.Asp561Glu)
| dbSNP |
19 | g.35845743G>T | CA405399838 | NPHS1 | c.1683C>A (p.Asp561Glu)
| |
19 | g.35845744T>A | CA405399840 | NPHS1 | c.1682A>T (p.Asp561Val)
| |
19 | g.35845744T>C | CA307785247 | NPHS1 | c.1682A>G (p.Asp561Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35845744T>G | CA405399844 | NPHS1 | c.1682A>C (p.Asp561Ala)
| |
19 | g.35845744T= | CA2333849084 | NPHS1 | c.1682A= (p.Asp561=)
| |
19 | g.35845745C>A | CA405399848 | NPHS1 | c.1681G>T (p.Asp561Tyr)
| |
19 | g.35845745C>G | CA405399850 | NPHS1 | c.1681G>C (p.Asp561His)
| |
19 | g.35845745C>T | CA405399853 | NPHS1 | c.1681G>A (p.Asp561Asn)
| |
19 | g.35845746T>A | CA507314244 | NPHS1 | c.1680A>T (p.Gly560=)
| |
19 | g.35845746T>C | CA507314245 | NPHS1 | c.1680A>G (p.Gly560=)
| |
19 | g.35845746T>G | CA507314246 | NPHS1 | c.1680A>C (p.Gly560=)
| |
19 | g.35845747C>A | CA405399856 | NPHS1 | c.1679G>T (p.Gly560Val)
| |
19 | g.35845747C>G | CA405399858 | NPHS1 | c.1679G>C (p.Gly560Ala)
| |
19 | g.35845747C>T | CA405399860 | NPHS1 | c.1679G>A (p.Gly560Glu)
| COSMIC |
19 | g.35845748C>A | CA405399865 | NPHS1 | c.1678G>T (p.Gly560Ter)
| |
19 | g.35845748C= | CA2333849085 | NPHS1 | c.1678G= (p.Gly560=)
| |
19 | g.35845748C>G | CA405399867 | NPHS1 | c.1678G>C (p.Gly560Arg)
| |
19 | g.35845748C>T | CA405399863 | NPHS1 | c.1678G>A (p.Gly560Arg)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845749C>A | CA507314248 | NPHS1 | c.1677G>T (p.Pro559=)
| ClinVar dbSNP |
19 | g.35845749C= | CA2333849086 | NPHS1 | c.1677G= (p.Pro559=)
| |
19 | g.35845749C>G | CA507314247 | NPHS1 | c.1677G>C (p.Pro559=)
| |
19 | g.35845749C>T | CA307785250 | NPHS1 | c.1677G>A (p.Pro559=)
| dbSNP |
19 | g.35845750G>A | CA405399872 | NPHS1 | c.1676C>T (p.Pro559Leu)
| dbSNP |
19 | g.35845750G>C | CA405399874 | NPHS1 | c.1676C>G (p.Pro559Arg)
| gnomAD v4 |
19 | g.35845750G= | CA2333849087 | NPHS1 | c.1676C= (p.Pro559=)
| |
19 | g.35845750G>T | CA405399876 | NPHS1 | c.1676C>A (p.Pro559Gln)
| |
19 | g.35845751G>A | CA405399878 | NPHS1 | c.1675C>T (p.Pro559Ser)
| COSMIC |
19 | g.35845751G>C | CA405399880 | NPHS1 | c.1675C>G (p.Pro559Ala)
| |
19 | g.35845751G>T | CA405399883 | NPHS1 | c.1675C>A (p.Pro559Thr)
| |
19 | g.35845752G>A | CA507314249 | NPHS1 | c.1674C>T (p.Arg558=)
| |
19 | g.35845752G>C | CA507314250 | NPHS1 | c.1674C>G (p.Arg558=)
| |
19 | g.35845752G>T | CA507314251 | NPHS1 | c.1674C>A (p.Arg558=)
| ClinVar |
19 | g.35845753C>A | CA405399886 | NPHS1 | c.1673G>T (p.Arg558Leu)
| gnomAD v4 |
19 | g.35845753C>G | CA405399888 | NPHS1 | c.1673G>C (p.Arg558Pro)
| |
19 | g.35845753C>T | CA405399891 | NPHS1 | c.1673G>A (p.Arg558His)
| |
19 | g.35845754G>A | CA250129 | NPHS1 | c.1672C>T (p.Arg558Cys)
| ClinVar dbSNP |
19 | g.35845754G>C | CA405399896 | NPHS1 | c.1672C>G (p.Arg558Gly)
| |
19 | g.35845754G= | CA2333849088 | NPHS1 | c.1672C= (p.Arg558=)
| |
19 | g.35845754G>T | CA405399898 | NPHS1 | c.1672C>A (p.Arg558Ser)
| dbSNP |
19 | g.35845755C>A | CA507314252 | NPHS1 | c.1671G>T (p.Leu557=)
| |
19 | g.35845755C>G | CA507314253 | NPHS1 | c.1671G>C (p.Leu557=)
| |
19 | g.35845755C>T | CA507314254 | NPHS1 | c.1671G>A (p.Leu557=)
| |
19 | g.35845756A>C | CA405399906 | NPHS1 | c.1670T>G (p.Leu557Arg)
| |
19 | g.35845756A>G | CA405399904 | NPHS1 | c.1670T>C (p.Leu557Pro)
| |
19 | g.35845756A>T | CA405399902 | NPHS1 | c.1670T>A (p.Leu557Gln)
| |
19 | g.35845757G>A | CA507314255 | NPHS1 | c.1669C>T (p.Leu557=)
| ClinVar dbSNP |
19 | g.35845757G>C | CA405399907 | NPHS1 | c.1669C>G (p.Leu557Val)
| |
19 | g.35845757G>T | CA405399909 | NPHS1 | c.1669C>A (p.Leu557Met)
| |
19 | g.35845758T>A | CA507314256 | NPHS1 | c.1668A>T (p.Ala556=)
| ClinVar dbSNP gnomAD v4 |
19 | g.35845758T>C | CA507314257 | NPHS1 | c.1668A>G (p.Ala556=)
| ClinVar |
19 | g.35845758T>G | CA507314258 | NPHS1 | c.1668A>C (p.Ala556=)
| |
19 | g.35845758T= | CA2333849089 | NPHS1 | c.1668A= (p.Ala556=)
| |
19 | g.35845759G>A | CA405399913 | NPHS1 | c.1667C>T (p.Ala556Val)
| |
19 | g.35845759G>C | CA405399915 | NPHS1 | c.1667C>G (p.Ala556Gly)
| |
19 | g.35845759G>T | CA405399918 | NPHS1 | c.1667C>A (p.Ala556Glu)
| gnomAD v4 |
19 | g.35845760C>A | CA405399920 | NPHS1 | c.1666G>T (p.Ala556Ser)
| dbSNP gnomAD v4 |
19 | g.35845760C= | CA2333849090 | NPHS1 | c.1666G= (p.Ala556=)
| |
19 | g.35845760C>G | CA405399922 | NPHS1 | c.1666G>C (p.Ala556Pro)
| |
19 | g.35845760C>T | CA405399924 | NPHS1 | c.1666G>A (p.Ala556Thr)
| |
19 | g.35845761G>A | CA9390364 | NPHS1 | c.1665C>T (p.Ser555=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845761G>C | CA507314259 | NPHS1 | c.1665C>G (p.Ser555=)
| ClinVar |
19 | g.35845761G= | CA2333849091 | NPHS1 | c.1665C= (p.Ser555=)
| |
19 | g.35845761G>T | CA507314260 | NPHS1 | c.1665C>A (p.Ser555=)
| gnomAD v4 |
19 | g.35845762G>A | CA405399929 | NPHS1 | c.1664C>T (p.Ser555Phe)
| |
19 | g.35845762G>C | CA405399931 | NPHS1 | c.1664C>G (p.Ser555Cys)
| |
19 | g.35845762G>T | CA405399933 | NPHS1 | c.1664C>A (p.Ser555Tyr)
| |
19 | g.35845763A>C | CA405399940 | NPHS1 | c.1663T>G (p.Ser555Ala)
| |
19 | g.35845763A>G | CA405399938 | NPHS1 | c.1663T>C (p.Ser555Pro)
| |
19 | g.35845763A>T | CA405399936 | NPHS1 | c.1663T>A (p.Ser555Thr)
| |
19 | g.35845764T>A | CA507314261 | NPHS1 | c.1662A>T (p.Ala554=)
| |
19 | g.35845764T>C | CA507314262 | NPHS1 | c.1662A>G (p.Ala554=)
| |
19 | g.35845764T>G | CA507314263 | NPHS1 | c.1662A>C (p.Ala554=)
| |
19 | g.35845765G>A | CA405399942 | NPHS1 | c.1661C>T (p.Ala554Val)
| gnomAD v4 |
19 | g.35845765G>C | CA405399946 | NPHS1 | c.1661C>G (p.Ala554Gly)
| |
19 | g.35845765G>T | CA405399944 | NPHS1 | c.1661C>A (p.Ala554Glu)
| |
19 | g.35845765dup | CA2697556470 | NPHS1 | c.1661dup (p.Ser555IlefsTer?)
| ClinVar |
19 | g.35845766C>A | CA405399950 | NPHS1 | c.1660G>T (p.Ala554Ser)
| gnomAD v4 |
19 | g.35845766C>G | CA405399951 | NPHS1 | c.1660G>C (p.Ala554Pro)
| |
19 | g.35845766C>T | CA405399953 | NPHS1 | c.1660G>A (p.Ala554Thr)
| |
19 | g.35845767G>A | CA507314264 | NPHS1 | c.1659C>T (p.Asn553=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845767G>C | CA405399955 | NPHS1 | c.1659C>G (p.Asn553Lys)
| gnomAD v4 |
19 | g.35845767G= | CA2333849092 | NPHS1 | c.1659C= (p.Asn553=)
| |
19 | g.35845767G>T | CA405399957 | NPHS1 | c.1659C>A (p.Asn553Lys)
| gnomAD v4 |
19 | g.35845768T>A | CA405399966 | NPHS1 | c.1658A>T (p.Asn553Ile)
| |
19 | g.35845768T>C | CA405399964 | NPHS1 | c.1658A>G (p.Asn553Ser)
| |
19 | g.35845768T>G | CA405399961 | NPHS1 | c.1658A>C (p.Asn553Thr)
| |