Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35845626delCA2576758858NPHS1c.1757+47del (n.1757+47del)
gnomAD v4
19g.35845626G>ACA633060908NPHS1c.1757+43C>T (n.1757+43C>T)
dbSNP gnomAD v2 gnomAD v4
19g.35845626G=CA2333849024NPHS1c.1757+43C= (n.1757+43C=)
19g.35845626G>TCA9390344NPHS1c.1757+43C>A (n.1757+43C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845627C>ACA2584603215NPHS1c.1757+42G>T (n.1757+42G>T)
gnomAD v4
19g.35845627C=CA2333849025NPHS1c.1757+42G= (n.1757+42G=)
19g.35845627C>GCA9390345NPHS1c.1757+42G>C (n.1757+42G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845627C>TCA633060909NPHS1c.1757+42G>A (n.1757+42G>A)
dbSNP gnomAD v2 gnomAD v4
19g.35845630G>ACA2576758859NPHS1c.1757+39C>T (n.1757+39C>T)
19g.35845630G>TCA2584603216NPHS1c.1757+39C>A (n.1757+39C>A)
gnomAD v4
19g.35845631G>ACA2584603217NPHS1c.1757+38C>T (n.1757+38C>T)
gnomAD v4
19g.35845632C>ACA2576758860NPHS1c.1757+37G>T (n.1757+37G>T)
gnomAD v4
19g.35845633C=CA2333849026NPHS1c.1757+36G= (n.1757+36G=)
19g.35845633C>GCA2333849027NPHS1c.1757+36G>C (n.1757+36G>C)
dbSNP gnomAD v4
19g.35845634A=CA2333849028NPHS1c.1757+35T= (n.1757+35T=)
19g.35845634A>GCA633060910NPHS1c.1757+35T>C (n.1757+35T>C)
dbSNP gnomAD v2 gnomAD v4
19g.35845635G>CCA633060911NPHS1c.1757+34C>G (n.1757+34C>G)
dbSNP gnomAD v2 gnomAD v4
19g.35845635G=CA2333849029NPHS1c.1757+34C= (n.1757+34C=)
19g.35845637C>ACA2333849031NPHS1c.1757+32G>T (n.1757+32G>T)
dbSNP gnomAD v4
19g.35845637C=CA2333849030NPHS1c.1757+32G= (n.1757+32G=)
19g.35845638C>ACA2584603218NPHS1c.1757+31G>T (n.1757+31G>T)
gnomAD v4
19g.35845640G>CCA633060912NPHS1c.1757+29C>G (n.1757+29C>G)
dbSNP gnomAD v2 gnomAD v4
19g.35845640G=CA2333849032NPHS1c.1757+29C= (n.1757+29C=)
19g.35845641A>TCA2814252868NPHS1c.1757+28T>A (n.1757+28T>A)
19g.35845642G>CCA9390346NPHS1c.1757+27C>G (n.1757+27C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845642G=CA2333849033NPHS1c.1757+27C= (n.1757+27C=)
19g.35845643A=CA2333849034NPHS1c.1757+26T= (n.1757+26T=)
19g.35845643A>TCA9390347NPHS1c.1757+26T>A (n.1757+26T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845644G>ACA9390348NPHS1c.1757+25C>T (n.1757+25C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35845644G>CCA2584603219NPHS1c.1757+25C>G (n.1757+25C>G)
gnomAD v4
19g.35845644G=CA2333849035NPHS1c.1757+25C= (n.1757+25C=)
19g.35845644G>TCA633060913NPHS1c.1757+25C>A (n.1757+25C>A)
dbSNP gnomAD v2 gnomAD v4
19g.35845645G>ACA2584603220NPHS1c.1757+24C>T (n.1757+24C>T)
gnomAD v4
19g.35845645G>CCA2584603221NPHS1c.1757+24C>G (n.1757+24C>G)
gnomAD v4
19g.35845645G>TCA2814252869NPHS1c.1757+24C>A (n.1757+24C>A)
19g.35845646G>TCA2736063313NPHS1c.1757+23C>A (n.1757+23C>A)
dbSNP
19g.35845649G>ACA633060914NPHS1c.1757+20C>T (n.1757+20C>T)
dbSNP gnomAD v2 gnomAD v4
19g.35845649G>CCA2333849037NPHS1c.1757+20C>G (n.1757+20C>G)
dbSNP gnomAD v4
19g.35845649G=CA2333849036NPHS1c.1757+20C= (n.1757+20C=)
19g.35845651G>ACA633060915NPHS1c.1757+18C>T (n.1757+18C>T)
dbSNP gnomAD v2 gnomAD v4
19g.35845651G=CA2333849038NPHS1c.1757+18C= (n.1757+18C=)
19g.35845651G>TCA633060916NPHS1c.1757+18C>A (n.1757+18C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845652A=CA2333849039NPHS1c.1757+17T= (n.1757+17T=)
19g.35845652A>GCA9390349NPHS1c.1757+17T>C (n.1757+17T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35845652A>TCA2333849040NPHS1c.1757+17T>A (n.1757+17T>A)
ClinVar dbSNP gnomAD v4
19g.35845654C=CA2333849041NPHS1c.1757+15G= (n.1757+15G=)
19g.35845654C>TCA2333849042NPHS1c.1757+15G>A (n.1757+15G>A)
dbSNP
19g.35845655C=CA2333849043NPHS1c.1757+14G= (n.1757+14G=)
19g.35845655C>TCA2333849044NPHS1c.1757+14G>A (n.1757+14G>A)
dbSNP
19g.35845656C>TCA2584603222NPHS1c.1757+13G>A (n.1757+13G>A)
gnomAD v4
19g.35845657T>ACA2584603223NPHS1c.1757+12A>T (n.1757+12A>T)
gnomAD v4
19g.35845658C>ACA2697556468NPHS1c.1757+11G>T (n.1757+11G>T)
ClinVar
19g.35845658C>TCA2584603224NPHS1c.1757+11G>A (n.1757+11G>A)
gnomAD v4
19g.35845659G>ACA633060917NPHS1c.1757+10C>T (n.1757+10C>T)
dbSNP gnomAD v2 gnomAD v4
19g.35845659G=CA2333849045NPHS1c.1757+10C= (n.1757+10C=)
19g.35845659G>TCA307785178NPHS1c.1757+10C>A (n.1757+10C>A)
dbSNP
19g.35845660C>ACA2573156277NPHS1c.1757+9G>T (n.1757+9G>T)
ClinVar dbSNP
19g.35845660C>TCA2584603225NPHS1c.1757+9G>A (n.1757+9G>A)
gnomAD v4
19g.35845661A>CCA2576758861NPHS1c.1757+8T>G (n.1757+8T>G)
gnomAD v4
19g.35845661A>TCA2584603226NPHS1c.1757+8T>A (n.1757+8T>A)
gnomAD v4
19g.35845662C=CA2333849046NPHS1c.1757+7G= (n.1757+7G=)
19g.35845662C>GCA633060918NPHS1c.1757+7G>C (n.1757+7G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35845664C>ACA2814252871NPHS1c.1757+5G>T (n.1757+5G>T)
19g.35845665C>ACA2333849048NPHS1c.1757+4G>T (n.1757+4G>T)
dbSNP
19g.35845665C=CA2333849047NPHS1c.1757+4G= (n.1757+4G=)
19g.35845667A>CCA405399605NPHS1c.1757+2T>G (n.1757+2T>G)
19g.35845667A>GCA405399606NPHS1c.1757+2T>C (n.1757+2T>C)
19g.35845667A>TCA405399607NPHS1c.1757+2T>A (n.1757+2T>A)
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)

Number of alleles fetched