Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35848114delCA16041979NPHS1c.1369del (p.Ala457LeufsTer5)
n.376del
ClinVar dbSNP
19g.35848114C>ACA405404120NPHS1c.1367G>T (p.Arg456Leu)
n.374G>T
19g.35848114C=CA2333850462NPHS1c.1367G= (p.Arg456=)
n.374G=
19g.35848114C>GCA405404124NPHS1c.1367G>C (p.Arg456Pro)
n.374G>C
19g.35848114C>TCA9390453NPHS1c.1367G>A (p.Arg456Gln)
n.374G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848115G>ACA9390454NPHS1c.1366C>T (p.Arg456Trp)
n.373C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848115G>CCA405404134NPHS1c.1366C>G (p.Arg456Gly)
n.373C>G
19g.35848115G=CA2333849905NPHS1c.1366C= (p.Arg456=)
n.373C=
19g.35848115G>TCA507314344NPHS1c.1366C>A (p.Arg456=)
n.373C>A
19g.35848116G>ACA507314347NPHS1c.1365C>T (p.Leu455=)
n.372C>T
ClinVar
19g.35848116G>CCA507314345NPHS1c.1365C>G (p.Leu455=)
n.372C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848116G=CA2333849906NPHS1c.1365C= (p.Leu455=)
n.372C=
19g.35848116G>TCA507314346NPHS1c.1365C>A (p.Leu455=)
n.372C>A
19g.35848117A>CCA405404149NPHS1c.1364T>G (p.Leu455Arg)
n.371T>G
19g.35848117A>GCA405404145NPHS1c.1364T>C (p.Leu455Pro)
n.371T>C
19g.35848117A>TCA405404140NPHS1c.1364T>A (p.Leu455His)
n.371T>A
19g.35848118G>ACA405404154NPHS1c.1363C>T (p.Leu455Phe)
n.370C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848118G>CCA405404157NPHS1c.1363C>G (p.Leu455Val)
n.370C>G
gnomAD v4
19g.35848118G=CA2333849907NPHS1c.1363C= (p.Leu455=)
n.370C=
19g.35848118G>TCA405404161NPHS1c.1363C>A (p.Leu455Ile)
n.370C>A
gnomAD v4
19g.35848119C>ACA405404165NPHS1c.1362G>T (p.Lys454Asn)
n.369G>T
19g.35848119C>GCA405404175NPHS1c.1362G>C (p.Lys454Asn)
n.369G>C
19g.35848119C>TCA507314348NPHS1c.1362G>A (p.Lys454=)
n.369G>A
gnomAD v4
19g.35848120T>ACA405404177NPHS1c.1361A>T (p.Lys454Met)
n.368A>T
19g.35848120T>CCA405404181NPHS1c.1361A>G (p.Lys454Arg)
n.368A>G
19g.35848120T>GCA405404185NPHS1c.1361A>C (p.Lys454Thr)
n.368A>C
19g.35848121T>ACA405404192NPHS1c.1360A>T (p.Lys454Ter)
n.367A>T
19g.35848121T>CCA405404193NPHS1c.1360A>G (p.Lys454Glu)
n.367A>G
19g.35848121T>GCA405404194NPHS1c.1360A>C (p.Lys454Gln)
n.367A>C
19g.35848122C>ACA405404195NPHS1c.1359G>T (p.Gln453His)
n.366G>T
19g.35848122C>GCA405404196NPHS1c.1359G>C (p.Gln453His)
n.366G>C
gnomAD v4
19g.35848122C>TCA507314349NPHS1c.1359G>A (p.Gln453=)
n.366G>A
COSMIC
19g.35848123T>ACA405404202NPHS1c.1358A>T (p.Gln453Leu)
n.365A>T
19g.35848123T>CCA405404205NPHS1c.1358A>G (p.Gln453Arg)
n.365A>G
19g.35848123T>GCA405404200NPHS1c.1358A>C (p.Gln453Pro)
n.365A>C
19g.35848124G>ACA405404210NPHS1c.1357C>T (p.Gln453Ter)
n.364C>T
19g.35848124G>CCA405404218NPHS1c.1357C>G (p.Gln453Glu)
n.364C>G
19g.35848124G>TCA405404215NPHS1c.1357C>A (p.Gln453Lys)
n.364C>A
gnomAD v4
19g.35848125G>ACA507314351NPHS1c.1356C>T (p.Gly452=)
n.363C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848125G>CCA507314352NPHS1c.1356C>G (p.Gly452=)
n.363C>G
gnomAD v4
19g.35848125G=CA2333849908NPHS1c.1356C= (p.Gly452=)
n.363C=
19g.35848125G>TCA507314350NPHS1c.1356C>A (p.Gly452=)
n.363C>A
19g.35848126C>ACA405404223NPHS1c.1355G>T (p.Gly452Val)
n.362G>T
19g.35848126C=CA2333849909NPHS1c.1355G= (p.Gly452=)
n.362G=
19g.35848126C>GCA405404227NPHS1c.1355G>C (p.Gly452Ala)
n.362G>C
19g.35848126C>TCA405404233NPHS1c.1355G>A (p.Gly452Asp)
n.362G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35848127C>ACA405404237NPHS1c.1354G>T (p.Gly452Cys)
n.361G>T
19g.35848127C>GCA405404240NPHS1c.1354G>C (p.Gly452Arg)
n.361G>C
19g.35848127C>TCA405404244NPHS1c.1354G>A (p.Gly452Ser)
n.361G>A
19g.35848128C>ACA405404247NPHS1c.1353G>T (p.Glu451Asp)
n.360G>T

Number of alleles fetched