Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.132721979_132721984delinsAGCCGCCA1402655971NPHP3,NPHP3-ACAD11,NPHP3-AS1c.372_377delinsGCGGCT (p.Lys124=)
c.99+273_99+278delinsGCGGCT (n.99+273_99+278delinsGCGGCT)
n.95_100delinsGCGGCT
c.24_29delinsGCGGCT (p.Lys8=)
n.476_481delinsGCGGCT
n.230_235delinsAGCCGC
3g.132721980_132721984delCA1139658271NPHP3,NPHP3-ACAD11,NPHP3-AS1c.372_376del (p.Lys124AsnfsTer?)
c.99+273_99+277del (n.99+273_99+277del)
n.95_99del
c.24_28del (p.Lys8AsnfsTer?)
n.476_480del
n.231_235del
 ClinVar dbSNP
3g.132721983G>ACA354588788NPHP3,NPHP3-ACAD11,NPHP3-AS1c.373C>T (p.Arg125Trp)
c.99+274C>T (n.99+274C>T)
n.96C>T
c.25C>T (p.Arg9Trp)
n.477C>T
n.234G>A
 ClinVar dbSNP
3g.132721983G>CCA354588790NPHP3,NPHP3-ACAD11,NPHP3-AS1c.373C>G (p.Arg125Gly)
c.99+274C>G (n.99+274C>G)
n.96C>G
c.25C>G (p.Arg9Gly)
n.477C>G
n.234G>C
3g.132721983G=CA1402655975NPHP3,NPHP3-ACAD11,NPHP3-AS1c.373C= (p.Arg125=)
c.99+274C= (n.99+274C=)
n.96C=
c.25C= (p.Arg9=)
n.477C=
n.234G=
3g.132721983G>TCA435802115NPHP3,NPHP3-ACAD11,NPHP3-AS1c.373C>A (p.Arg125=)
c.99+274C>A (n.99+274C>A)
n.96C>A
c.25C>A (p.Arg9=)
n.477C>A
n.234G>T
 dbSNP gnomAD v2 gnomAD v4
3g.132721984C>ACA354588793NPHP3,NPHP3-ACAD11,NPHP3-AS1c.372G>T (p.Lys124Asn)
c.99+273G>T (n.99+273G>T)
n.95G>T
c.24G>T (p.Lys8Asn)
n.476G>T
n.235C>A
3g.132721984C>GCA354588791NPHP3,NPHP3-ACAD11,NPHP3-AS1c.372G>C (p.Lys124Asn)
c.99+273G>C (n.99+273G>C)
n.95G>C
c.24G>C (p.Lys8Asn)
n.476G>C
n.235C>G
3g.132721984C>TCA435802116NPHP3,NPHP3-ACAD11,NPHP3-AS1c.372G>A (p.Lys124=)
c.99+273G>A (n.99+273G>A)
n.95G>A
c.24G>A (p.Lys8=)
n.476G>A
n.235C>T
 gnomAD v4
3g.132721985T>ACA354588794NPHP3,NPHP3-ACAD11,NPHP3-AS1c.371A>T (p.Lys124Met)
c.99+272A>T (n.99+272A>T)
n.94A>T
c.23A>T (p.Lys8Met)
n.475A>T
n.236T>A
3g.132721985T>CCA354588796NPHP3,NPHP3-ACAD11,NPHP3-AS1c.371A>G (p.Lys124Arg)
c.99+272A>G (n.99+272A>G)
n.94A>G
c.23A>G (p.Lys8Arg)
n.475A>G
n.236T>C
 gnomAD v4
3g.132721985T>GCA354588798NPHP3,NPHP3-ACAD11,NPHP3-AS1c.371A>C (p.Lys124Thr)
c.99+272A>C (n.99+272A>C)
n.94A>C
c.23A>C (p.Lys8Thr)
n.475A>C
n.236T>G
3g.132721986T>ACA354588799NPHP3,NPHP3-ACAD11,NPHP3-AS1c.370A>T (p.Lys124Ter)
c.99+271A>T (n.99+271A>T)
n.93A>T
c.22A>T (p.Lys8Ter)
n.474A>T
n.237T>A
 gnomAD v4
3g.132721986T>CCA354588800NPHP3,NPHP3-ACAD11,NPHP3-AS1c.370A>G (p.Lys124Glu)
c.99+271A>G (n.99+271A>G)
n.93A>G
c.22A>G (p.Lys8Glu)
n.474A>G
n.237T>C
 ClinVar dbSNP
3g.132721986T>GCA354588802NPHP3,NPHP3-ACAD11,NPHP3-AS1c.370A>C (p.Lys124Gln)
c.99+271A>C (n.99+271A>C)
n.93A>C
c.22A>C (p.Lys8Gln)
n.474A>C
n.237T>G
3g.132721986T=CA1402655979NPHP3,NPHP3-ACAD11,NPHP3-AS1c.370A= (p.Lys124=)
c.99+271A= (n.99+271A=)
n.93A=
c.22A= (p.Lys8=)
n.474A=
n.237T=
3g.132721987G>ACA435802117NPHP3,NPHP3-ACAD11,NPHP3-AS1c.369C>T (p.Asn123=)
c.99+270C>T (n.99+270C>T)
n.92C>T
c.21C>T (p.Asn7=)
n.473C>T
n.238G>A
 COSMIC
3g.132721987G>CCA354588804NPHP3,NPHP3-ACAD11,NPHP3-AS1c.369C>G (p.Asn123Lys)
c.99+270C>G (n.99+270C>G)
n.92C>G
c.21C>G (p.Asn7Lys)
n.473C>G
n.238G>C
3g.132721987G>TCA354588806NPHP3,NPHP3-ACAD11,NPHP3-AS1c.369C>A (p.Asn123Lys)
c.99+270C>A (n.99+270C>A)
n.92C>A
c.21C>A (p.Asn7Lys)
n.473C>A
n.238G>T
 gnomAD v4
3g.132721988T>ACA354588807NPHP3,NPHP3-ACAD11,NPHP3-AS1c.368A>T (p.Asn123Ile)
c.99+269A>T (n.99+269A>T)
n.91A>T
c.20A>T (p.Asn7Ile)
n.472A>T
n.239T>A
3g.132721988T>CCA354588808NPHP3,NPHP3-ACAD11,NPHP3-AS1c.368A>G (p.Asn123Ser)
c.99+269A>G (n.99+269A>G)
n.91A>G
c.20A>G (p.Asn7Ser)
n.472A>G
n.239T>C
3g.132721988T>GCA354588809NPHP3,NPHP3-ACAD11,NPHP3-AS1c.368A>C (p.Asn123Thr)
c.99+269A>C (n.99+269A>C)
n.91A>C
c.20A>C (p.Asn7Thr)
n.472A>C
n.239T>G
3g.132721989T>ACA354588810NPHP3,NPHP3-ACAD11,NPHP3-AS1c.367A>T (p.Asn123Tyr)
c.99+268A>T (n.99+268A>T)
n.90A>T
c.19A>T (p.Asn7Tyr)
n.471A>T
n.240T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.132721989T>CCA354588812NPHP3,NPHP3-ACAD11,NPHP3-AS1c.367A>G (p.Asn123Asp)
c.99+268A>G (n.99+268A>G)
n.90A>G
c.19A>G (p.Asn7Asp)
n.471A>G
n.240T>C
3g.132721989T>GCA354588814NPHP3,NPHP3-ACAD11,NPHP3-AS1c.367A>C (p.Asn123His)
c.99+268A>C (n.99+268A>C)
n.90A>C
c.19A>C (p.Asn7His)
n.471A>C
n.240T>G
3g.132721989T=CA1402655982NPHP3,NPHP3-ACAD11,NPHP3-AS1c.367A= (p.Asn123=)
c.99+268A= (n.99+268A=)
n.90A=
c.19A= (p.Asn7=)
n.471A=
n.240T=
3g.132721990C>ACA354588817NPHP3,NPHP3-ACAD11,NPHP3-AS1c.366G>T (p.Glu122Asp)
c.99+267G>T (n.99+267G>T)
n.89G>T
c.18G>T (p.Glu6Asp)
n.470G>T
n.241C>A
3g.132721990C>GCA354588816NPHP3,NPHP3-ACAD11,NPHP3-AS1c.366G>C (p.Glu122Asp)
c.99+267G>C (n.99+267G>C)
n.89G>C
c.18G>C (p.Glu6Asp)
n.470G>C
n.241C>G
3g.132721990C>TCA435802118NPHP3,NPHP3-ACAD11,NPHP3-AS1c.366G>A (p.Glu122=)
c.99+267G>A (n.99+267G>A)
n.89G>A
c.18G>A (p.Glu6=)
n.470G>A
n.241C>T
3g.132721991T>ACA354588818NPHP3,NPHP3-ACAD11,NPHP3-AS1c.365A>T (p.Glu122Val)
c.99+266A>T (n.99+266A>T)
n.88A>T
c.17A>T (p.Glu6Val)
n.469A>T
n.242T>A
3g.132721991T>CCA354588820NPHP3,NPHP3-ACAD11,NPHP3-AS1c.365A>G (p.Glu122Gly)
c.99+266A>G (n.99+266A>G)
n.88A>G
c.17A>G (p.Glu6Gly)
n.469A>G
n.242T>C
3g.132721991T>GCA354588822NPHP3,NPHP3-ACAD11,NPHP3-AS1c.365A>C (p.Glu122Ala)
c.99+266A>C (n.99+266A>C)
n.88A>C
c.17A>C (p.Glu6Ala)
n.469A>C
n.242T>G
3g.132721992C>ACA354588824NPHP3,NPHP3-ACAD11,NPHP3-AS1c.364G>T (p.Glu122Ter)
c.99+265G>T (n.99+265G>T)
n.87G>T
c.16G>T (p.Glu6Ter)
n.468G>T
n.243C>A
3g.132721992C>GCA354588825NPHP3,NPHP3-ACAD11,NPHP3-AS1c.364G>C (p.Glu122Gln)
c.99+265G>C (n.99+265G>C)
n.87G>C
c.16G>C (p.Glu6Gln)
n.468G>C
n.243C>G
3g.132721992C>TCA354588827NPHP3,NPHP3-ACAD11,NPHP3-AS1c.364G>A (p.Glu122Lys)
c.99+265G>A (n.99+265G>A)
n.87G>A
c.16G>A (p.Glu6Lys)
n.468G>A
n.243C>T
3g.132721993C>ACA435802119NPHP3,NPHP3-ACAD11,NPHP3-AS1c.363G>T (p.Thr121=)
c.99+264G>T (n.99+264G>T)
n.86G>T
c.15G>T (p.Thr5=)
n.467G>T
n.244C>A
3g.132721993C=CA1402655986NPHP3,NPHP3-ACAD11,NPHP3-AS1c.363G= (p.Thr121=)
c.99+264G= (n.99+264G=)
n.86G=
c.15G= (p.Thr5=)
n.467G=
n.244C=
3g.132721993C>GCA435802120NPHP3,NPHP3-ACAD11,NPHP3-AS1c.363G>C (p.Thr121=)
c.99+264G>C (n.99+264G>C)
n.86G>C
c.15G>C (p.Thr5=)
n.467G>C
n.244C>G
 dbSNP
3g.132721993C>TCA435802121NPHP3,NPHP3-ACAD11,NPHP3-AS1c.363G>A (p.Thr121=)
c.99+264G>A (n.99+264G>A)
n.86G>A
c.15G>A (p.Thr5=)
n.467G>A
n.244C>T
 dbSNP
3g.132721994G>ACA354588831NPHP3,NPHP3-ACAD11,NPHP3-AS1c.362C>T (p.Thr121Met)
c.99+263C>T (n.99+263C>T)
n.85C>T
c.14C>T (p.Thr5Met)
n.466C>T
n.245G>A
3g.132721994G>CCA354588829NPHP3,NPHP3-ACAD11,NPHP3-AS1c.362C>G (p.Thr121Arg)
c.99+263C>G (n.99+263C>G)
n.85C>G
c.14C>G (p.Thr5Arg)
n.466C>G
n.245G>C
 ClinVar dbSNP gnomAD v4
3g.132721994G=CA1402655990NPHP3,NPHP3-ACAD11,NPHP3-AS1c.362C= (p.Thr121=)
c.99+263C= (n.99+263C=)
n.85C=
c.14C= (p.Thr5=)
n.466C=
n.245G=
3g.132721994G>TCA354588830NPHP3,NPHP3-ACAD11,NPHP3-AS1c.362C>A (p.Thr121Lys)
c.99+263C>A (n.99+263C>A)
n.85C>A
c.14C>A (p.Thr5Lys)
n.466C>A
n.245G>T
 gnomAD v4
3g.132721995T>ACA354588833NPHP3,NPHP3-ACAD11,NPHP3-AS1c.361A>T (p.Thr121Ser)
c.99+262A>T (n.99+262A>T)
n.84A>T
c.13A>T (p.Thr5Ser)
n.465A>T
n.246T>A
3g.132721995T>CCA2622651NPHP3,NPHP3-ACAD11,NPHP3-AS1c.361A>G (p.Thr121Ala)
c.99+262A>G (n.99+262A>G)
n.84A>G
c.13A>G (p.Thr5Ala)
n.465A>G
n.246T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132721995T>GCA354588834NPHP3,NPHP3-ACAD11,NPHP3-AS1c.361A>C (p.Thr121Pro)
c.99+262A>C (n.99+262A>C)
n.84A>C
c.13A>C (p.Thr5Pro)
n.465A>C
n.246T>G
 ClinVar dbSNP
3g.132721995T=CA1402655995NPHP3,NPHP3-ACAD11,NPHP3-AS1c.361A= (p.Thr121=)
c.99+262A= (n.99+262A=)
n.84A=
c.13A= (p.Thr5=)
n.465A=
n.246T=
3g.132721996G>ACA435802122NPHP3,NPHP3-ACAD11,NPHP3-AS1c.360C>T (p.Asp120=)
c.99+261C>T (n.99+261C>T)
n.83C>T
c.12C>T (p.Asp4=)
n.464C>T
n.247G>A
3g.132721996G>CCA354588836NPHP3,NPHP3-ACAD11,NPHP3-AS1c.360C>G (p.Asp120Glu)
c.99+261C>G (n.99+261C>G)
n.83C>G
c.12C>G (p.Asp4Glu)
n.464C>G
n.247G>C
3g.132721996G>TCA354588837NPHP3,NPHP3-ACAD11,NPHP3-AS1c.360C>A (p.Asp120Glu)
c.99+261C>A (n.99+261C>A)
n.83C>A
c.12C>A (p.Asp4Glu)
n.464C>A
n.247G>T
 gnomAD v4

Number of alleles fetched