Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179575623A=CA1210326642NPHS2c.242T= (p.Val81=)
1g.179575623A>CCA343552735NPHS2c.242T>G (p.Val81Gly)
dbSNP gnomAD v2 gnomAD v4
1g.179575623A>GCA343552738NPHS2c.242T>C (p.Val81Ala)
1g.179575623A>TCA343552741NPHS2c.242T>A (p.Val81Glu)
1g.179575624C>ACA343552742NPHS2c.241G>T (p.Val81Leu)
1g.179575624C>GCA343552743NPHS2c.241G>C (p.Val81Leu)
1g.179575624C>TCA343552744NPHS2c.241G>A (p.Val81Met)
1g.179575625C>ACA421995773NPHS2c.240G>T (p.Val80=)
1g.179575625C=CA1210326643NPHS2c.240G= (p.Val80=)
1g.179575625C>GCA421995780NPHS2c.240G>C (p.Val80=)
dbSNP gnomAD v3 gnomAD v4
1g.179575625C>TCA421995783NPHS2c.240G>A (p.Val80=)
dbSNP gnomAD v4
1g.179575626A>CCA343552749NPHS2c.239T>G (p.Val80Gly)
1g.179575626A>GCA343552745NPHS2c.239T>C (p.Val80Ala)
1g.179575626A>TCA343552747NPHS2c.239T>A (p.Val80Glu)
1g.179575627C>ACA343552755NPHS2c.238G>T (p.Val80Leu)
1g.179575627C>GCA343552763NPHS2c.238G>C (p.Val80Leu)
1g.179575627C>TCA343552766NPHS2c.238G>A (p.Val80Met)
gnomAD v4
1g.179575628C>ACA343552769NPHS2c.237G>T (p.Glu79Asp)
gnomAD v4
1g.179575628C>GCA343552773NPHS2c.237G>C (p.Glu79Asp)
1g.179575628C>TCA421995819NPHS2c.237G>A (p.Glu79=)
1g.179575629T>ACA343552777NPHS2c.236A>T (p.Glu79Val)
1g.179575629T>CCA343552780NPHS2c.236A>G (p.Glu79Gly)
1g.179575629T>GCA343552783NPHS2c.236A>C (p.Glu79Ala)
1g.179575630C>ACA343552789NPHS2c.235G>T (p.Glu79Ter)
gnomAD v4
1g.179575630C=CA1210326644NPHS2c.235G= (p.Glu79=)
1g.179575630C>GCA343552792NPHS2c.235G>C (p.Glu79Gln)
1g.179575630C>TCA1267290NPHS2c.235G>A (p.Glu79Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.179575631G>ACA421995835NPHS2c.234C>T (p.Thr78=)
1g.179575631G>CCA421995838NPHS2c.234C>G (p.Thr78=)
dbSNP gnomAD v2 gnomAD v4
1g.179575631G=CA1210326645NPHS2c.234C= (p.Thr78=)
1g.179575631G>TCA421995840NPHS2c.234C>A (p.Thr78=)
gnomAD v4
1g.179575632G>ACA343552801NPHS2c.233C>T (p.Thr78Ile)
gnomAD v4
1g.179575632G>CCA343552803NPHS2c.233C>G (p.Thr78Ser)
gnomAD v4
1g.179575632G>TCA343552797NPHS2c.233C>A (p.Thr78Asn)
gnomAD v4
1g.179575633T>ACA343552806NPHS2c.232A>T (p.Thr78Ser)
gnomAD v4
1g.179575633T>CCA343552808NPHS2c.232A>G (p.Thr78Ala)
gnomAD v4
1g.179575633T>GCA343552811NPHS2c.232A>C (p.Thr78Pro)
1g.179575634G>ACA33653793NPHS2c.231C>T (p.Gly77=)
dbSNP gnomAD v2 gnomAD v4
1g.179575634G>CCA421995865NPHS2c.231C>G (p.Gly77=)
1g.179575634G=CA1210326646NPHS2c.231C= (p.Gly77=)
1g.179575634G>TCA421995867NPHS2c.231C>A (p.Gly77=)
ClinVar dbSNP gnomAD v4
1g.179575634_179575635delinsGCCA1210326647NPHS2c.230_231delinsGC (p.Gly77=)
1g.179575635C>ACA343552814NPHS2c.230G>T (p.Gly77Val)
gnomAD v4
1g.179575635C>GCA343552815NPHS2c.230G>C (p.Gly77Ala)
1g.179575635C>TCA343552816NPHS2c.230G>A (p.Gly77Asp)
gnomAD v4
1g.179575637delCA1210326648NPHS2c.230del (p.Gly77AlafsTer22)
c.230del (p.Gly77AlafsTer?)
dbSNP
1g.179575635_179575638delinsCCCTCA1210326649NPHS2c.227_230delinsAGGG (p.Glu76=)
1g.179575636C>ACA343552818NPHS2c.229G>T (p.Gly77Cys)
dbSNP gnomAD v3 gnomAD v4
1g.179575636C=CA1210326650NPHS2c.229G= (p.Gly77=)
1g.179575636C>GCA343552820NPHS2c.229G>C (p.Gly77Arg)

Number of alleles fetched