Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35845668C>ACA405399608NPHS1c.1757+1G>T (n.1757+1G>T)
19g.35845668C=CA2333849049NPHS1c.1757+1G= (n.1757+1G=)
19g.35845668C>GCA405399609NPHS1c.1757+1G>C (n.1757+1G>C)
19g.35845668C>TCA405399610NPHS1c.1757+1G>A (n.1757+1G>A)
ClinVar dbSNP
19g.35845669C>ACA405399611NPHS1c.1757G>T (p.Arg586Met)
19g.35845669C=CA2333849050NPHS1c.1757G= (p.Arg586=)
19g.35845669C>GCA405399613NPHS1c.1757G>C (p.Arg586Thr)
gnomAD v4
19g.35845669C>TCA405399612NPHS1c.1757G>A (p.Arg586Lys)
dbSNP
19g.35845670T>ACA405399614NPHS1c.1756A>T (p.Arg586Trp)
19g.35845670T>CCA346566NPHS1c.1756A>G (p.Arg586Gly)
ClinVar dbSNP
19g.35845670T>GCA507314204NPHS1c.1756A>C (p.Arg586=)
19g.35845670T=CA2333849051NPHS1c.1756A= (p.Arg586=)
19g.35845671C>ACA405399615NPHS1c.1755G>T (p.Glu585Asp)
19g.35845671C>GCA405399616NPHS1c.1755G>C (p.Glu585Asp)
19g.35845671C>TCA507314205NPHS1c.1755G>A (p.Glu585=)
gnomAD v4
19g.35845672T>ACA9390350NPHS1c.1754A>T (p.Glu585Val)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845672T>CCA405399618NPHS1c.1754A>G (p.Glu585Gly)
19g.35845672T>GCA405399617NPHS1c.1754A>C (p.Glu585Ala)
19g.35845672T=CA2333849052NPHS1c.1754A= (p.Glu585=)
19g.35845673C>ACA405399619NPHS1c.1753G>T (p.Glu585Ter)
19g.35845673C=CA2333849053NPHS1c.1753G= (p.Glu585=)
19g.35845673C>GCA405399620NPHS1c.1753G>C (p.Glu585Gln)
19g.35845673C>TCA405399621NPHS1c.1753G>A (p.Glu585Lys)
dbSNP gnomAD v4
19g.35845676delCA2573156278NPHS1c.1753del (p.Glu585ArgfsTer?)
ClinVar dbSNP
19g.35845674C>ACA507314208NPHS1c.1752G>T (p.Gly584=)
19g.35845674C=CA2333849054NPHS1c.1752G= (p.Gly584=)
19g.35845674C>GCA507314207NPHS1c.1752G>C (p.Gly584=)
19g.35845674C>TCA507314206NPHS1c.1752G>A (p.Gly584=)
dbSNP gnomAD v4
19g.35845675C>ACA405399622NPHS1c.1751G>T (p.Gly584Val)
19g.35845675C=CA2333849055NPHS1c.1751G= (p.Gly584=)
19g.35845675C>GCA405399623NPHS1c.1751G>C (p.Gly584Ala)
dbSNP
19g.35845675C>TCA405399624NPHS1c.1751G>A (p.Gly584Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845676C>ACA405399627NPHS1c.1750G>T (p.Gly584Trp)
dbSNP
19g.35845676C=CA2333849056NPHS1c.1750G= (p.Gly584=)
19g.35845676C>GCA405399625NPHS1c.1750G>C (p.Gly584Arg)
19g.35845676C>TCA405399626NPHS1c.1750G>A (p.Gly584Arg)
19g.35845677T>ACA405399628NPHS1c.1749A>T (p.Glu583Asp)
19g.35845677T>CCA507314212NPHS1c.1749A>G (p.Glu583=)
ClinVar dbSNP
19g.35845677T>GCA405399629NPHS1c.1749A>C (p.Glu583Asp)
19g.35845678delCA2695198191NPHS1c.1749del (p.Glu585ArgfsTer?)
ClinVar
19g.35845678_35845682delCA2580096850NPHS1c.1745_1749del (p.Lys582ArgfsTer?)
ClinVar gnomAD v4
19g.35845678T>ACA405399630NPHS1c.1748A>T (p.Glu583Val)
19g.35845678T>CCA405399631NPHS1c.1748A>G (p.Glu583Gly)
19g.35845678T>GCA405399632NPHS1c.1748A>C (p.Glu583Ala)
19g.35845679C>ACA405399633NPHS1c.1747G>T (p.Glu583Ter)
19g.35845679C=CA2333849057NPHS1c.1747G= (p.Glu583=)
19g.35845679C>GCA405399634NPHS1c.1747G>C (p.Glu583Gln)
19g.35845679C>TCA9390351NPHS1c.1747G>A (p.Glu583Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845680C>ACA405399635NPHS1c.1746G>T (p.Lys582Asn)
19g.35845680C=CA2333849059NPHS1c.1746G= (p.Lys582=)
19g.35845680C>GCA405399636NPHS1c.1746G>C (p.Lys582Asn)
gnomAD v4
19g.35845680C>TCA507314216NPHS1c.1746G>A (p.Lys582=)
dbSNP gnomAD v4
19g.35845680_35845681delinsCTCA2333849058NPHS1c.1745_1746delinsAG (p.Lys582=)
19g.35845681T>ACA405399637NPHS1c.1745A>T (p.Lys582Met)
19g.35845681T>CCA405399638NPHS1c.1745A>G (p.Lys582Arg)
gnomAD v4
19g.35845681T>GCA405399639NPHS1c.1745A>C (p.Lys582Thr)
19g.35845682delCA16041978NPHS1c.1745del (p.Lys582ArgfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35845682T>ACA405399640NPHS1c.1744A>T (p.Lys582Ter)
19g.35845682T>CCA405399641NPHS1c.1744A>G (p.Lys582Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35845682T>GCA405399642NPHS1c.1744A>C (p.Lys582Gln)
19g.35845682T=CA2333849060NPHS1c.1744A= (p.Lys582=)
19g.35845683G>ACA507314203NPHS1c.1743C>T (p.Asp581=)
19g.35845683G>CCA405399643NPHS1c.1743C>G (p.Asp581Glu)
dbSNP
19g.35845683G=CA2333849061NPHS1c.1743C= (p.Asp581=)
19g.35845683G>TCA405399644NPHS1c.1743C>A (p.Asp581Glu)
19g.35845684T>ACA405399645NPHS1c.1742A>T (p.Asp581Val)
dbSNP gnomAD v4
19g.35845684T>CCA405399647NPHS1c.1742A>G (p.Asp581Gly)
19g.35845684T>GCA405399646NPHS1c.1742A>C (p.Asp581Ala)
19g.35845684T=CA2333849062NPHS1c.1742A= (p.Asp581=)
19g.35845685C>ACA405399648NPHS1c.1741G>T (p.Asp581Tyr)
19g.35845685C=CA2333849063NPHS1c.1741G= (p.Asp581=)
19g.35845685C>GCA405399649NPHS1c.1741G>C (p.Asp581His)
19g.35845685C>TCA9390352NPHS1c.1741G>A (p.Asp581Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845686C>ACA405399650NPHS1c.1740G>T (p.Trp580Cys)
19g.35845686C>GCA405399651NPHS1c.1740G>C (p.Trp580Cys)
19g.35845686C>TCA405399652NPHS1c.1740G>A (p.Trp580Ter)
19g.35845687C>ACA405399655NPHS1c.1739G>T (p.Trp580Leu)
19g.35845687C>GCA405399654NPHS1c.1739G>C (p.Trp580Ser)
19g.35845687C>TCA405399653NPHS1c.1739G>A (p.Trp580Ter)
19g.35845688A>CCA405399656NPHS1c.1738T>G (p.Trp580Gly)
19g.35845688A>GCA405399657NPHS1c.1738T>C (p.Trp580Arg)
19g.35845688A>TCA405399658NPHS1c.1738T>A (p.Trp580Arg)
19g.35845689G>ACA507314209NPHS1c.1737C>T (p.Ser579=)
ClinVar gnomAD v4
19g.35845689G>CCA507314210NPHS1c.1737C>G (p.Ser579=)
19g.35845689G>TCA507314211NPHS1c.1737C>A (p.Ser579=)
19g.35845690G>ACA405399659NPHS1c.1736C>T (p.Ser579Phe)
dbSNP gnomAD v2 gnomAD v4
19g.35845690G>CCA405399660NPHS1c.1736C>G (p.Ser579Cys)
19g.35845690G=CA2333849064NPHS1c.1736C= (p.Ser579=)
19g.35845690G>TCA9390353NPHS1c.1736C>A (p.Ser579Tyr)
dbSNP ExAC gnomAD v2
19g.35845691A>CCA405399661NPHS1c.1735T>G (p.Ser579Ala)
19g.35845691A>GCA405399663NPHS1c.1735T>C (p.Ser579Pro)
19g.35845691A>TCA405399662NPHS1c.1735T>A (p.Ser579Thr)
19g.35845692C>ACA405399664NPHS1c.1734G>T (p.Leu578Phe)
dbSNP gnomAD v4
19g.35845692C=CA2333849065NPHS1c.1734G= (p.Leu578=)
19g.35845692C>GCA405399665NPHS1c.1734G>C (p.Leu578Phe)
19g.35845692C>TCA507314213NPHS1c.1734G>A (p.Leu578=)
ClinVar dbSNP gnomAD v4
19g.35845693A>CCA405399666NPHS1c.1733T>G (p.Leu578Trp)
19g.35845693A>GCA405399667NPHS1c.1733T>C (p.Leu578Ser)
19g.35845693A>TCA405399668NPHS1c.1733T>A (p.Leu578Ter)
19g.35845694A=CA2333849066NPHS1c.1732T= (p.Leu578=)
19g.35845694A>CCA405399669NPHS1c.1732T>G (p.Leu578Val)
dbSNP gnomAD v2 gnomAD v4
19g.35845694A>GCA507314214NPHS1c.1732T>C (p.Leu578=)
dbSNP
19g.35845694A>TCA405399670NPHS1c.1732T>A (p.Leu578Met)
gnomAD v4
19g.35845695G>ACA507314215NPHS1c.1731C>T (p.Asn577=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35845695G>CCA405399671NPHS1c.1731C>G (p.Asn577Lys)
19g.35845695G=CA2333849067NPHS1c.1731C= (p.Asn577=)
19g.35845695G>TCA9390354NPHS1c.1731C>A (p.Asn577Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845696T>ACA405399672NPHS1c.1730A>T (p.Asn577Ile)
19g.35845696T>CCA405399673NPHS1c.1730A>G (p.Asn577Ser)
dbSNP gnomAD v2 gnomAD v4
19g.35845696T>GCA405399674NPHS1c.1730A>C (p.Asn577Thr)
19g.35845696T=CA2333849068NPHS1c.1730A= (p.Asn577=)
19g.35845697delCA2695228618NPHS1c.1730del (p.Asn577ThrfsTer?)
19g.35845697T>ACA405399675NPHS1c.1729A>T (p.Asn577Tyr)
19g.35845697T>CCA405399677NPHS1c.1729A>G (p.Asn577Asp)
19g.35845697T>GCA405399676NPHS1c.1729A>C (p.Asn577His)
dbSNP gnomAD v3 gnomAD v4
19g.35845697T=CA2333849069NPHS1c.1729A= (p.Asn577=)
19g.35845698G>ACA507314217NPHS1c.1728C>T (p.Val576=)
19g.35845698G>CCA507314218NPHS1c.1728C>G (p.Val576=)
19g.35845698G>TCA507314219NPHS1c.1728C>A (p.Val576=)
gnomAD v4
19g.35845699A=CA2333849070NPHS1c.1727T= (p.Val576=)
19g.35845699A>CCA405399678NPHS1c.1727T>G (p.Val576Gly)
19g.35845699A>GCA9390355NPHS1c.1727T>C (p.Val576Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845699A>TCA405399679NPHS1c.1727T>A (p.Val576Asp)
19g.35845700C>ACA405399680NPHS1c.1726G>T (p.Val576Phe)
ClinVar dbSNP
19g.35845700C=CA2333849071NPHS1c.1726G= (p.Val576=)
19g.35845700C>GCA405399681NPHS1c.1726G>C (p.Val576Leu)
gnomAD v4
19g.35845700C>TCA405399682NPHS1c.1726G>A (p.Val576Ile)
dbSNP gnomAD v3 gnomAD v4
19g.35845701C>ACA9390356NPHS1c.1725G>T (p.Pro575=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845701C=CA2333849072NPHS1c.1725G= (p.Pro575=)
19g.35845701C>GCA9390358NPHS1c.1725G>C (p.Pro575=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845701C>TCA9390357NPHS1c.1725G>A (p.Pro575=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845702G>ACA405399683NPHS1c.1724C>T (p.Pro575Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35845702G>CCA405399684NPHS1c.1724C>G (p.Pro575Arg)
19g.35845702G=CA2333849073NPHS1c.1724C= (p.Pro575=)
19g.35845702G>TCA250138NPHS1c.1724C>A (p.Pro575Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845703G>ACA405399687NPHS1c.1723C>T (p.Pro575Ser)
gnomAD v4
19g.35845703G>CCA405399685NPHS1c.1723C>G (p.Pro575Ala)
19g.35845703G>TCA405399686NPHS1c.1723C>A (p.Pro575Thr)
19g.35845704C>ACA507314220NPHS1c.1722G>T (p.Pro574=)
ClinVar dbSNP gnomAD v4
19g.35845704C=CA2333849074NPHS1c.1722G= (p.Pro574=)
19g.35845704C>GCA507314221NPHS1c.1722G>C (p.Pro574=)
19g.35845704C>TCA507314222NPHS1c.1722G>A (p.Pro574=)
ClinVar dbSNP gnomAD v4
19g.35845705G>ACA405399688NPHS1c.1721C>T (p.Pro574Leu)
19g.35845705G>CCA405399689NPHS1c.1721C>G (p.Pro574Arg)
dbSNP
19g.35845705G=CA2333849075NPHS1c.1721C= (p.Pro574=)
19g.35845705G>TCA307785212NPHS1c.1721C>A (p.Pro574Gln)
dbSNP gnomAD v4
19g.35845706G>ACA405399690NPHS1c.1720C>T (p.Pro574Ser)
19g.35845706G>CCA405399691NPHS1c.1720C>G (p.Pro574Ala)
19g.35845706G>TCA405399692NPHS1c.1720C>A (p.Pro574Thr)
19g.35845707A>CCA405399693NPHS1c.1719T>G (p.Asn573Lys)
19g.35845707A>GCA507314223NPHS1c.1719T>C (p.Asn573=)
19g.35845707A>TCA405399694NPHS1c.1719T>A (p.Asn573Lys)
19g.35845708T>ACA405399695NPHS1c.1718A>T (p.Asn573Ile)
19g.35845708T>CCA405399696NPHS1c.1718A>G (p.Asn573Ser)
19g.35845708T>GCA405399697NPHS1c.1718A>C (p.Asn573Thr)
19g.35845709T>ACA405399698NPHS1c.1717A>T (p.Asn573Tyr)
19g.35845709T>CCA405399700NPHS1c.1717A>G (p.Asn573Asp)
19g.35845709T>GCA405399699NPHS1c.1717A>C (p.Asn573His)
19g.35845710G>ACA507314224NPHS1c.1716C>T (p.Ser572=)
19g.35845710G>CCA405399701NPHS1c.1716C>G (p.Ser572Arg)
19g.35845710G>TCA405399702NPHS1c.1716C>A (p.Ser572Arg)
gnomAD v4
19g.35845711C>ACA405399703NPHS1c.1715G>T (p.Ser572Ile)
19g.35845711C=CA2333849076NPHS1c.1715G= (p.Ser572=)
19g.35845711C>GCA405399704NPHS1c.1715G>C (p.Ser572Thr)
19g.35845711C>TCA250136NPHS1c.1715G>A (p.Ser572Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845712T>ACA405399705NPHS1c.1714A>T (p.Ser572Cys)
19g.35845712T>CCA9390359NPHS1c.1714A>G (p.Ser572Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845712T>GCA405399706NPHS1c.1714A>C (p.Ser572Arg)
gnomAD v4
19g.35845712T=CA2333849077NPHS1c.1714A= (p.Ser572=)
19g.35845713delCA2695228621NPHS1c.1713del (p.Ser571ArgfsTer?)
19g.35845713G>ACA507314225NPHS1c.1713C>T (p.Ser571=)
19g.35845713G>CCA405399707NPHS1c.1713C>G (p.Ser571Arg)
19g.35845713G>TCA405399708NPHS1c.1713C>A (p.Ser571Arg)
19g.35845714C>ACA405399709NPHS1c.1712G>T (p.Ser571Ile)
19g.35845714C>GCA405399710NPHS1c.1712G>C (p.Ser571Thr)
19g.35845714C>TCA405399711NPHS1c.1712G>A (p.Ser571Asn)
19g.35845715T>ACA405399714NPHS1c.1711A>T (p.Ser571Cys)
19g.35845715T>CCA405399713NPHS1c.1711A>G (p.Ser571Gly)
19g.35845715T>GCA405399712NPHS1c.1711A>C (p.Ser571Arg)
19g.35845716G>ACA507314226NPHS1c.1710C>T (p.Val570=)
19g.35845716G>CCA507314227NPHS1c.1710C>G (p.Val570=)
19g.35845716G>TCA507314228NPHS1c.1710C>A (p.Val570=)
19g.35845717A>CCA405399715NPHS1c.1709T>G (p.Val570Gly)
19g.35845717A>GCA405399716NPHS1c.1709T>C (p.Val570Ala)
19g.35845717A>TCA405399717NPHS1c.1709T>A (p.Val570Asp)
19g.35845718C>ACA405399718NPHS1c.1708G>T (p.Val570Phe)
gnomAD v4
19g.35845718C>GCA405399719NPHS1c.1708G>C (p.Val570Leu)
19g.35845718C>TCA405399720NPHS1c.1708G>A (p.Val570Ile)
19g.35845719G>ACA507314229NPHS1c.1707C>T (p.Ser569=)
gnomAD v4
19g.35845719G>CCA250134NPHS1c.1707C>G (p.Ser569Arg)
ClinVar dbSNP
19g.35845719G=CA2333849078NPHS1c.1707C= (p.Ser569=)
19g.35845719G>TCA405399722NPHS1c.1707C>A (p.Ser569Arg)
19g.35845720C>ACA405399723NPHS1c.1706G>T (p.Ser569Ile)
19g.35845720C>GCA405399724NPHS1c.1706G>C (p.Ser569Thr)
19g.35845720C>TCA405399725NPHS1c.1706G>A (p.Ser569Asn)
19g.35845721T>ACA405399726NPHS1c.1705A>T (p.Ser569Cys)
19g.35845721T>CCA405399727NPHS1c.1705A>G (p.Ser569Gly)
19g.35845721T>GCA405399728NPHS1c.1705A>C (p.Ser569Arg)
19g.35845722G>ACA507314232NPHS1c.1704C>T (p.Val568=)
19g.35845722G>CCA507314230NPHS1c.1704C>G (p.Val568=)
19g.35845722G>TCA507314231NPHS1c.1704C>A (p.Val568=)
19g.35845723A=CA2333849079NPHS1c.1703T= (p.Val568=)
19g.35845723A>CCA405399730NPHS1c.1703T>G (p.Val568Gly)
19g.35845723A>GCA9390360NPHS1c.1703T>C (p.Val568Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845723A>TCA405399729NPHS1c.1703T>A (p.Val568Asp)
19g.35845724C>ACA405399731NPHS1c.1702G>T (p.Val568Phe)
19g.35845724C>GCA405399734NPHS1c.1702G>C (p.Val568Leu)
19g.35845724C>TCA405399736NPHS1c.1702G>A (p.Val568Ile)
gnomAD v4
19g.35845725G>ACA507314233NPHS1c.1701C>T (p.Cys567=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845725G>CCA405399739NPHS1c.1701C>G (p.Cys567Trp)
19g.35845725G=CA2333849080NPHS1c.1701C= (p.Cys567=)
19g.35845725G>TCA250131NPHS1c.1701C>A (p.Cys567Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845726C>ACA405399743NPHS1c.1700G>T (p.Cys567Phe)
19g.35845726C>GCA405399745NPHS1c.1700G>C (p.Cys567Ser)
19g.35845726C>TCA405399748NPHS1c.1700G>A (p.Cys567Tyr)
19g.35845727A=CA2333849081NPHS1c.1699T= (p.Cys567=)
19g.35845727A>CCA405399751NPHS1c.1699T>G (p.Cys567Gly)
gnomAD v4
19g.35845727A>GCA405399753NPHS1c.1699T>C (p.Cys567Arg)
gnomAD v4
19g.35845727A>TCA405399755NPHS1c.1699T>A (p.Cys567Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845728T>ACA9390361NPHS1c.1698A>T (p.Thr566=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845728T>CCA9390362NPHS1c.1698A>G (p.Thr566=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845728T>GCA507314234NPHS1c.1698A>C (p.Thr566=)
19g.35845728T=CA2333849082NPHS1c.1698A= (p.Thr566=)
19g.35845729G>ACA405399766NPHS1c.1697C>T (p.Thr566Ile)
19g.35845729G>CCA405399762NPHS1c.1697C>G (p.Thr566Arg)
19g.35845729G>TCA405399764NPHS1c.1697C>A (p.Thr566Lys)
19g.35845730T>ACA405399768NPHS1c.1696A>T (p.Thr566Ser)
19g.35845730T>CCA405399770NPHS1c.1696A>G (p.Thr566Ala)
COSMIC
19g.35845730T>GCA405399772NPHS1c.1696A>C (p.Thr566Pro)
19g.35845731C>ACA405399775NPHS1c.1695G>T (p.Leu565Phe)
19g.35845731C=CA2333849083NPHS1c.1695G= (p.Leu565=)
19g.35845731C>GCA9390363NPHS1c.1695G>C (p.Leu565Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845731C>TCA507314235NPHS1c.1695G>A (p.Leu565=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35845732A>CCA405399778NPHS1c.1694T>G (p.Leu565Trp)
19g.35845732A>GCA405399780NPHS1c.1694T>C (p.Leu565Ser)
19g.35845732A>TCA405399782NPHS1c.1694T>A (p.Leu565Ter)
19g.35845733A>CCA405399785NPHS1c.1693T>G (p.Leu565Val)
19g.35845733A>GCA507314236NPHS1c.1693T>C (p.Leu565=)
ClinVar
19g.35845733A>TCA405399787NPHS1c.1693T>A (p.Leu565Met)
19g.35845734G>ACA507314237NPHS1c.1692C>T (p.Asn564=)
ClinVar dbSNP gnomAD v4
19g.35845734G>CCA405399790NPHS1c.1692C>G (p.Asn564Lys)
19g.35845734G>TCA405399792NPHS1c.1692C>A (p.Asn564Lys)
19g.35845735T>ACA405399794NPHS1c.1691A>T (p.Asn564Ile)
19g.35845735T>CCA405399797NPHS1c.1691A>G (p.Asn564Ser)
19g.35845735T>GCA405399795NPHS1c.1691A>C (p.Asn564Thr)
19g.35845736T>ACA405399800NPHS1c.1690A>T (p.Asn564Tyr)
19g.35845736T>CCA405399804NPHS1c.1690A>G (p.Asn564Asp)
19g.35845736T>GCA405399802NPHS1c.1690A>C (p.Asn564His)
19g.35845737T>ACA405399807NPHS1c.1689A>T (p.Leu563Phe)
19g.35845737T>CCA507314238NPHS1c.1689A>G (p.Leu563=)
gnomAD v4
19g.35845737T>GCA405399808NPHS1c.1689A>C (p.Leu563Phe)
19g.35845738A>CCA405399811NPHS1c.1688T>G (p.Leu563Ter)
19g.35845738A>GCA405399813NPHS1c.1688T>C (p.Leu563Ser)
19g.35845738A>TCA405399815NPHS1c.1688T>A (p.Leu563Ter)
19g.35845739A>CCA405399818NPHS1c.1687T>G (p.Leu563Val)
19g.35845739A>GCA507314239NPHS1c.1687T>C (p.Leu563=)
19g.35845739A>TCA405399820NPHS1c.1687T>A (p.Leu563Ile)
19g.35845740G>ACA507314240NPHS1c.1686C>T (p.Ala562=)
gnomAD v4
19g.35845740G>CCA507314241NPHS1c.1686C>G (p.Ala562=)
19g.35845740G>TCA507314242NPHS1c.1686C>A (p.Ala562=)
19g.35845741G>ACA405399823NPHS1c.1685C>T (p.Ala562Val)
19g.35845741G>CCA405399825NPHS1c.1685C>G (p.Ala562Gly)
19g.35845741G>TCA405399827NPHS1c.1685C>A (p.Ala562Asp)
19g.35845742C>ACA405399834NPHS1c.1684G>T (p.Ala562Ser)
gnomAD v4
19g.35845742C>GCA405399832NPHS1c.1684G>C (p.Ala562Pro)
19g.35845742C>TCA405399830NPHS1c.1684G>A (p.Ala562Thr)
gnomAD v4
19g.35845743G>ACA507314243NPHS1c.1683C>T (p.Asp561=)
19g.35845743G>CCA405399836NPHS1c.1683C>G (p.Asp561Glu)
dbSNP
19g.35845743G>TCA405399838NPHS1c.1683C>A (p.Asp561Glu)
19g.35845744T>ACA405399840NPHS1c.1682A>T (p.Asp561Val)
19g.35845744T>CCA307785247NPHS1c.1682A>G (p.Asp561Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35845744T>GCA405399844NPHS1c.1682A>C (p.Asp561Ala)
19g.35845744T=CA2333849084NPHS1c.1682A= (p.Asp561=)
19g.35845745C>ACA405399848NPHS1c.1681G>T (p.Asp561Tyr)
19g.35845745C>GCA405399850NPHS1c.1681G>C (p.Asp561His)
19g.35845745C>TCA405399853NPHS1c.1681G>A (p.Asp561Asn)
19g.35845746T>ACA507314244NPHS1c.1680A>T (p.Gly560=)
19g.35845746T>CCA507314245NPHS1c.1680A>G (p.Gly560=)
19g.35845746T>GCA507314246NPHS1c.1680A>C (p.Gly560=)
19g.35845747C>ACA405399856NPHS1c.1679G>T (p.Gly560Val)
19g.35845747C>GCA405399858NPHS1c.1679G>C (p.Gly560Ala)
19g.35845747C>TCA405399860NPHS1c.1679G>A (p.Gly560Glu)
COSMIC
19g.35845748C>ACA405399865NPHS1c.1678G>T (p.Gly560Ter)
19g.35845748C=CA2333849085NPHS1c.1678G= (p.Gly560=)
19g.35845748C>GCA405399867NPHS1c.1678G>C (p.Gly560Arg)
19g.35845748C>TCA405399863NPHS1c.1678G>A (p.Gly560Arg)
dbSNP gnomAD v3 gnomAD v4
19g.35845749C>ACA507314248NPHS1c.1677G>T (p.Pro559=)
ClinVar dbSNP
19g.35845749C=CA2333849086NPHS1c.1677G= (p.Pro559=)
19g.35845749C>GCA507314247NPHS1c.1677G>C (p.Pro559=)
19g.35845749C>TCA307785250NPHS1c.1677G>A (p.Pro559=)
dbSNP
19g.35845750G>ACA405399872NPHS1c.1676C>T (p.Pro559Leu)
dbSNP
19g.35845750G>CCA405399874NPHS1c.1676C>G (p.Pro559Arg)
gnomAD v4
19g.35845750G=CA2333849087NPHS1c.1676C= (p.Pro559=)
19g.35845750G>TCA405399876NPHS1c.1676C>A (p.Pro559Gln)
19g.35845751G>ACA405399878NPHS1c.1675C>T (p.Pro559Ser)
COSMIC
19g.35845751G>CCA405399880NPHS1c.1675C>G (p.Pro559Ala)
19g.35845751G>TCA405399883NPHS1c.1675C>A (p.Pro559Thr)
19g.35845752G>ACA507314249NPHS1c.1674C>T (p.Arg558=)
19g.35845752G>CCA507314250NPHS1c.1674C>G (p.Arg558=)
19g.35845752G>TCA507314251NPHS1c.1674C>A (p.Arg558=)
ClinVar
19g.35845753C>ACA405399886NPHS1c.1673G>T (p.Arg558Leu)
gnomAD v4
19g.35845753C>GCA405399888NPHS1c.1673G>C (p.Arg558Pro)
19g.35845753C>TCA405399891NPHS1c.1673G>A (p.Arg558His)
19g.35845754G>ACA250129NPHS1c.1672C>T (p.Arg558Cys)
ClinVar dbSNP
19g.35845754G>CCA405399896NPHS1c.1672C>G (p.Arg558Gly)
19g.35845754G=CA2333849088NPHS1c.1672C= (p.Arg558=)
19g.35845754G>TCA405399898NPHS1c.1672C>A (p.Arg558Ser)
dbSNP
19g.35845755C>ACA507314252NPHS1c.1671G>T (p.Leu557=)
19g.35845755C>GCA507314253NPHS1c.1671G>C (p.Leu557=)
19g.35845755C>TCA507314254NPHS1c.1671G>A (p.Leu557=)
19g.35845756A>CCA405399906NPHS1c.1670T>G (p.Leu557Arg)
19g.35845756A>GCA405399904NPHS1c.1670T>C (p.Leu557Pro)
19g.35845756A>TCA405399902NPHS1c.1670T>A (p.Leu557Gln)
19g.35845757G>ACA507314255NPHS1c.1669C>T (p.Leu557=)
ClinVar dbSNP
19g.35845757G>CCA405399907NPHS1c.1669C>G (p.Leu557Val)
19g.35845757G>TCA405399909NPHS1c.1669C>A (p.Leu557Met)
19g.35845758T>ACA507314256NPHS1c.1668A>T (p.Ala556=)
ClinVar dbSNP gnomAD v4
19g.35845758T>CCA507314257NPHS1c.1668A>G (p.Ala556=)
ClinVar
19g.35845758T>GCA507314258NPHS1c.1668A>C (p.Ala556=)
19g.35845758T=CA2333849089NPHS1c.1668A= (p.Ala556=)
19g.35845759G>ACA405399913NPHS1c.1667C>T (p.Ala556Val)
19g.35845759G>CCA405399915NPHS1c.1667C>G (p.Ala556Gly)
19g.35845759G>TCA405399918NPHS1c.1667C>A (p.Ala556Glu)
gnomAD v4
19g.35845760C>ACA405399920NPHS1c.1666G>T (p.Ala556Ser)
dbSNP gnomAD v4
19g.35845760C=CA2333849090NPHS1c.1666G= (p.Ala556=)
19g.35845760C>GCA405399922NPHS1c.1666G>C (p.Ala556Pro)
19g.35845760C>TCA405399924NPHS1c.1666G>A (p.Ala556Thr)
19g.35845761G>ACA9390364NPHS1c.1665C>T (p.Ser555=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845761G>CCA507314259NPHS1c.1665C>G (p.Ser555=)
ClinVar
19g.35845761G=CA2333849091NPHS1c.1665C= (p.Ser555=)
19g.35845761G>TCA507314260NPHS1c.1665C>A (p.Ser555=)
gnomAD v4
19g.35845762G>ACA405399929NPHS1c.1664C>T (p.Ser555Phe)
19g.35845762G>CCA405399931NPHS1c.1664C>G (p.Ser555Cys)
19g.35845762G>TCA405399933NPHS1c.1664C>A (p.Ser555Tyr)
19g.35845763A>CCA405399940NPHS1c.1663T>G (p.Ser555Ala)
19g.35845763A>GCA405399938NPHS1c.1663T>C (p.Ser555Pro)
19g.35845763A>TCA405399936NPHS1c.1663T>A (p.Ser555Thr)
19g.35845764T>ACA507314261NPHS1c.1662A>T (p.Ala554=)
19g.35845764T>CCA507314262NPHS1c.1662A>G (p.Ala554=)
19g.35845764T>GCA507314263NPHS1c.1662A>C (p.Ala554=)
19g.35845765G>ACA405399942NPHS1c.1661C>T (p.Ala554Val)
gnomAD v4
19g.35845765G>CCA405399946NPHS1c.1661C>G (p.Ala554Gly)
19g.35845765G>TCA405399944NPHS1c.1661C>A (p.Ala554Glu)
19g.35845765dupCA2697556470NPHS1c.1661dup (p.Ser555IlefsTer?)
ClinVar
19g.35845766C>ACA405399950NPHS1c.1660G>T (p.Ala554Ser)
gnomAD v4
19g.35845766C>GCA405399951NPHS1c.1660G>C (p.Ala554Pro)
19g.35845766C>TCA405399953NPHS1c.1660G>A (p.Ala554Thr)
19g.35845767G>ACA507314264NPHS1c.1659C>T (p.Asn553=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35845767G>CCA405399955NPHS1c.1659C>G (p.Asn553Lys)
gnomAD v4
19g.35845767G=CA2333849092NPHS1c.1659C= (p.Asn553=)
19g.35845767G>TCA405399957NPHS1c.1659C>A (p.Asn553Lys)
gnomAD v4
19g.35845768T>ACA405399966NPHS1c.1658A>T (p.Asn553Ile)
19g.35845768T>CCA405399964NPHS1c.1658A>G (p.Asn553Ser)
19g.35845768T>GCA405399961NPHS1c.1658A>C (p.Asn553Thr)

Number of alleles fetched