Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35848071G>ACA507314304NPHS1c.1410C>T (p.Gly470=)
n.417C>T
dbSNP gnomAD v2
19g.35848071G>CCA507314305NPHS1c.1410C>G (p.Gly470=)
n.417C>G
dbSNP
19g.35848071G=CA2333850441NPHS1c.1410C= (p.Gly470=)
n.417C=
19g.35848071G>TCA507314306NPHS1c.1410C>A (p.Gly470=)
n.417C>A
ClinVar dbSNP gnomAD v4
19g.35848072C>ACA405403753NPHS1c.1409G>T (p.Gly470Val)
n.416G>T
19g.35848072C=CA2333850442NPHS1c.1409G= (p.Gly470=)
n.416G=
19g.35848072C>GCA405403757NPHS1c.1409G>C (p.Gly470Ala)
n.416G>C
dbSNP gnomAD v2 gnomAD v4
19g.35848072C>TCA405403760NPHS1c.1409G>A (p.Gly470Asp)
n.416G>A
gnomAD v4
19g.35848076dupCA2841207817NPHS1c.1409dup (p.Asn471GlnfsTer?)
n.416dup
19g.35848076delCA2584603397NPHS1c.1409del (p.Gly470AlafsTer16)
n.416del
ClinVar gnomAD v4
19g.35848073C>ACA405403767NPHS1c.1408G>T (p.Gly470Cys)
n.415G>T
19g.35848073C=CA2333850443NPHS1c.1408G= (p.Gly470=)
n.415G=
19g.35848073C>GCA405403771NPHS1c.1408G>C (p.Gly470Arg)
n.415G>C
19g.35848073C>TCA405403773NPHS1c.1408G>A (p.Gly470Ser)
n.415G>A
dbSNP gnomAD v4
19g.35848074C>ACA507314309NPHS1c.1407G>T (p.Gly469=)
n.414G>T
19g.35848074C>GCA507314308NPHS1c.1407G>C (p.Gly469=)
n.414G>C
19g.35848074C>TCA507314307NPHS1c.1407G>A (p.Gly469=)
n.414G>A
ClinVar dbSNP COSMIC
19g.35848075C>ACA405403781NPHS1c.1406G>T (p.Gly469Val)
n.413G>T
19g.35848075C>GCA405403783NPHS1c.1406G>C (p.Gly469Ala)
n.413G>C
19g.35848075C>TCA405403785NPHS1c.1406G>A (p.Gly469Glu)
n.413G>A
19g.35848075_35848077dupCA2695228629NPHS1c.1404_1406dup (p.Gly469_Gly470insGly)
n.411_413dup
19g.35848076C>ACA405403789NPHS1c.1405G>T (p.Gly469Trp)
n.412G>T
19g.35848076C=CA2333850444NPHS1c.1405G= (p.Gly469=)
n.412G=
19g.35848076C>GCA405403791NPHS1c.1405G>C (p.Gly469Arg)
n.412G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848076C>TCA405403797NPHS1c.1405G>A (p.Gly469Arg)
n.412G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848077G>ACA9390447NPHS1c.1404C>T (p.Ile468=)
n.411C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848077G>CCA405403804NPHS1c.1404C>G (p.Ile468Met)
n.411C>G
19g.35848077G=CA2333850445NPHS1c.1404C= (p.Ile468=)
n.411C=
19g.35848077G>TCA507314310NPHS1c.1404C>A (p.Ile468=)
n.411C>A
19g.35848078A=CA2333850446NPHS1c.1403T= (p.Ile468=)
n.410T=
19g.35848078A>CCA405403810NPHS1c.1403T>G (p.Ile468Ser)
n.410T>G
19g.35848078A>GCA9390448NPHS1c.1403T>C (p.Ile468Thr)
n.410T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848078A>TCA405403816NPHS1c.1403T>A (p.Ile468Asn)
n.410T>A
19g.35848079T>ACA405403839NPHS1c.1402A>T (p.Ile468Phe)
n.409A>T
19g.35848079T>CCA405403841NPHS1c.1402A>G (p.Ile468Val)
n.409A>G
dbSNP gnomAD v2 gnomAD v4
19g.35848079T>GCA405403846NPHS1c.1402A>C (p.Ile468Leu)
n.409A>C
19g.35848079T=CA2333850447NPHS1c.1402A= (p.Ile468=)
n.409A=
19g.35848080A>CCA507314313NPHS1c.1401T>G (p.Ala467=)
n.408T>G
19g.35848080A>GCA507314311NPHS1c.1401T>C (p.Ala467=)
n.408T>C
gnomAD v4
19g.35848080A>TCA507314312NPHS1c.1401T>A (p.Ala467=)
n.408T>A
gnomAD v4
19g.35848081G>ACA405403849NPHS1c.1400C>T (p.Ala467Val)
n.407C>T
19g.35848081G>CCA405403852NPHS1c.1400C>G (p.Ala467Gly)
n.407C>G
19g.35848081G>TCA405403855NPHS1c.1400C>A (p.Ala467Asp)
n.407C>A
19g.35848082C>ACA405403860NPHS1c.1399G>T (p.Ala467Ser)
n.406G>T
19g.35848082C>GCA405403864NPHS1c.1399G>C (p.Ala467Pro)
n.406G>C
19g.35848082C>TCA405403866NPHS1c.1399G>A (p.Ala467Thr)
n.406G>A
19g.35848083C>ACA405403874NPHS1c.1398G>T (p.Leu466Phe)
n.405G>T
19g.35848083C>GCA405403878NPHS1c.1398G>C (p.Leu466Phe)
n.405G>C
19g.35848083C>TCA507314314NPHS1c.1398G>A (p.Leu466=)
n.405G>A
19g.35848084A>CCA405403891NPHS1c.1397T>G (p.Leu466Trp)
n.404T>G
19g.35848084A>GCA405403887NPHS1c.1397T>C (p.Leu466Ser)
n.404T>C
19g.35848084A>TCA405403883NPHS1c.1397T>A (p.Leu466Ter)
n.404T>A
19g.35848086dupCA2841207819NPHS1c.1397dup (p.Leu466PhefsTer?)
n.404dup
19g.35848085A=CA2333850448NPHS1c.1396T= (p.Leu466=)
n.403T=
19g.35848085A>CCA405403897NPHS1c.1396T>G (p.Leu466Val)
n.403T>G
19g.35848085A>GCA507314315NPHS1c.1396T>C (p.Leu466=)
n.403T>C
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35848085A>TCA405403903NPHS1c.1396T>A (p.Leu466Met)
n.403T>A
19g.35848086A>CCA405403905NPHS1c.1395T>G (p.Cys465Trp)
n.402T>G
19g.35848086A>GCA507314316NPHS1c.1395T>C (p.Cys465=)
n.402T>C
19g.35848086A>TCA405403910NPHS1c.1395T>A (p.Cys465Ter)
n.402T>A
19g.35848087C>ACA405403916NPHS1c.1394G>T (p.Cys465Phe)
n.401G>T
19g.35848087C=CA2333850449NPHS1c.1394G= (p.Cys465=)
n.401G=
19g.35848087C>GCA405403920NPHS1c.1394G>C (p.Cys465Ser)
n.401G>C
19g.35848087C>TCA250121NPHS1c.1394G>A (p.Cys465Tyr)
n.401G>A
ClinVar dbSNP
19g.35848088A>CCA405403931NPHS1c.1393T>G (p.Cys465Gly)
n.400T>G
19g.35848088A>GCA405403934NPHS1c.1393T>C (p.Cys465Arg)
n.400T>C
19g.35848088A>TCA405403938NPHS1c.1393T>A (p.Cys465Ser)
n.400T>A
19g.35848089C>ACA507314317NPHS1c.1392G>T (p.Val464=)
n.399G>T
19g.35848089C>GCA507314318NPHS1c.1392G>C (p.Val464=)
n.399G>C
19g.35848089C>TCA507314319NPHS1c.1392G>A (p.Val464=)
n.399G>A
19g.35848089_35848090insCCCACA2814253228NPHS1c.1391_1392insTGGG (p.Cys465GlyfsTer?)
n.398_399insTGGG
19g.35848090A=CA2333850450NPHS1c.1391T= (p.Val464=)
n.398T=
19g.35848090A>CCA405403942NPHS1c.1391T>G (p.Val464Gly)
n.398T>G
dbSNP
19g.35848090A>GCA405403945NPHS1c.1391T>C (p.Val464Ala)
n.398T>C
19g.35848090A>TCA405403949NPHS1c.1391T>A (p.Val464Glu)
n.398T>A
dbSNP gnomAD v2 gnomAD v4
19g.35848091C>ACA405403960NPHS1c.1390G>T (p.Val464Leu)
n.397G>T
19g.35848091C>GCA405403964NPHS1c.1390G>C (p.Val464Leu)
n.397G>C
19g.35848091C>TCA405403955NPHS1c.1390G>A (p.Val464Met)
n.397G>A
gnomAD v4
19g.35848091_35848092insACA2814253230NPHS1c.1389_1390insT (p.Val464CysfsTer?)
n.396_397insT
19g.35848092C>ACA507314320NPHS1c.1389G>T (p.Leu463=)
n.396G>T
19g.35848092C>GCA507314321NPHS1c.1389G>C (p.Leu463=)
n.396G>C
gnomAD v4
19g.35848092C>TCA507314322NPHS1c.1389G>A (p.Leu463=)
n.396G>A
gnomAD v4
19g.35848092_35848093insCAACACCA2814253229NPHS1c.1389_1390insTGTTGG (p.Leu463_Val464insCysTrp)
n.396_397insTGTTGG
19g.35848093A>CCA405403970NPHS1c.1388T>G (p.Leu463Arg)
n.395T>G
dbSNP
19g.35848093A>GCA405403966NPHS1c.1388T>C (p.Leu463Pro)
n.395T>C
19g.35848093A>TCA405403973NPHS1c.1388T>A (p.Leu463Gln)
n.395T>A
19g.35848093_35848094delCA2814253233NPHS1c.1387_1388del (p.Leu463GlyfsTer?)
n.394_395del
19g.35848094G>ACA507314323NPHS1c.1387C>T (p.Leu463=)
n.394C>T
19g.35848094G>CCA405403977NPHS1c.1387C>G (p.Leu463Val)
n.394C>G
COSMIC
19g.35848094G>TCA405403979NPHS1c.1387C>A (p.Leu463Met)
n.394C>A
19g.35848095C>ACA9390449NPHS1c.1386G>T (p.Arg462Ser)
n.393G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848095C=CA2333850451NPHS1c.1386G= (p.Arg462=)
n.393G=
19g.35848095C>GCA405403984NPHS1c.1386G>C (p.Arg462Ser)
n.393G>C
19g.35848095C>TCA507314324NPHS1c.1386G>A (p.Arg462=)
n.393G>A
19g.35848095_35848096insAACA2814253234NPHS1c.1385_1386insTT (p.Arg462SerfsTer25)
n.392_393insTT
19g.35848096C>ACA405403990NPHS1c.1385G>T (p.Arg462Met)
n.392G>T
19g.35848096C>GCA405404004NPHS1c.1385G>C (p.Arg462Thr)
n.392G>C
19g.35848096C>TCA405404008NPHS1c.1385G>A (p.Arg462Lys)
n.392G>A
COSMIC
19g.35848097T>ACA405404013NPHS1c.1384A>T (p.Arg462Trp)
n.391A>T
19g.35848097T>CCA405404016NPHS1c.1384A>G (p.Arg462Gly)
n.391A>G
19g.35848097T>GCA507314325NPHS1c.1384A>C (p.Arg462=)
n.391A>C
19g.35848098C>ACA507314326NPHS1c.1383G>T (p.Val461=)
n.390G>T
gnomAD v4
19g.35848098C=CA2333850452NPHS1c.1383G= (p.Val461=)
n.390G=
19g.35848098C>GCA507314327NPHS1c.1383G>C (p.Val461=)
n.390G>C
19g.35848098C>TCA507314328NPHS1c.1383G>A (p.Val461=)
n.390G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848099A>CCA405404025NPHS1c.1382T>G (p.Val461Gly)
n.389T>G
19g.35848099A>GCA405404026NPHS1c.1382T>C (p.Val461Ala)
n.389T>C
19g.35848099A>TCA405404027NPHS1c.1382T>A (p.Val461Glu)
n.389T>A
19g.35848099dupCA2841207820NPHS1c.1382dup (p.Arg462GlufsTer?)
n.389dup
19g.35848100C>ACA405404028NPHS1c.1381G>T (p.Val461Leu)
n.388G>T
19g.35848100C>GCA405404030NPHS1c.1381G>C (p.Val461Leu)
n.388G>C
gnomAD v4
19g.35848100C>TCA405404033NPHS1c.1381G>A (p.Val461Met)
n.388G>A
gnomAD v4
19g.35848101C>ACA507314331NPHS1c.1380G>T (p.Arg460=)
n.387G>T
19g.35848101C=CA2333850453NPHS1c.1380G= (p.Arg460=)
n.387G=
19g.35848101C>GCA507314330NPHS1c.1380G>C (p.Arg460=)
n.387G>C
dbSNP gnomAD v4
19g.35848101C>TCA507314329NPHS1c.1380G>A (p.Arg460=)
n.387G>A
19g.35848102C>ACA405404037NPHS1c.1379G>T (p.Arg460Leu)
n.386G>T
19g.35848102C=CA2333850454NPHS1c.1379G= (p.Arg460=)
n.386G=
19g.35848102C>GCA405404044NPHS1c.1379G>C (p.Arg460Pro)
n.386G>C
dbSNP gnomAD v2 gnomAD v4
19g.35848102C>TCA250119NPHS1c.1379G>A (p.Arg460Gln)
n.386G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848103G>ACA9390450NPHS1c.1378C>T (p.Arg460Trp)
n.385C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848103G>CCA405404049NPHS1c.1378C>G (p.Arg460Gly)
n.385C>G
19g.35848103G=CA2333850455NPHS1c.1378C= (p.Arg460=)
n.385C=
19g.35848103G>TCA507314332NPHS1c.1378C>A (p.Arg460=)
n.385C>A
19g.35848105delCA2695198192NPHS1c.1378del (p.Arg460GlyfsTer2)
n.385del
ClinVar
19g.35848104G>ACA507314333NPHS1c.1377C>T (p.Thr459=)
n.384C>T
19g.35848104G>CCA507314334NPHS1c.1377C>G (p.Thr459=)
n.384C>G
ClinVar dbSNP gnomAD v4
19g.35848104G>TCA507314335NPHS1c.1377C>A (p.Thr459=)
n.384C>A
19g.35848105G>ACA405404057NPHS1c.1376C>T (p.Thr459Ile)
n.383C>T
19g.35848105G>CCA405404060NPHS1c.1376C>G (p.Thr459Ser)
n.383C>G
19g.35848105G>TCA405404063NPHS1c.1376C>A (p.Thr459Asn)
n.383C>A
COSMIC
19g.35848106T>ACA405404068NPHS1c.1375A>T (p.Thr459Ser)
n.382A>T
19g.35848106T>CCA405404072NPHS1c.1375A>G (p.Thr459Ala)
n.382A>G
19g.35848106T>GCA405404075NPHS1c.1375A>C (p.Thr459Pro)
n.382A>C
19g.35848107C>ACA507314336NPHS1c.1374G>T (p.Gly458=)
n.381G>T
19g.35848107C=CA2333850456NPHS1c.1374G= (p.Gly458=)
n.381G=
19g.35848107C>GCA507314337NPHS1c.1374G>C (p.Gly458=)
n.381G>C
19g.35848107C>TCA507314338NPHS1c.1374G>A (p.Gly458=)
n.381G>A
dbSNP gnomAD v2 gnomAD v4
19g.35848108C>ACA405404079NPHS1c.1373G>T (p.Gly458Val)
n.380G>T
19g.35848108C=CA2333850457NPHS1c.1373G= (p.Gly458=)
n.380G=
19g.35848108C>GCA9390451NPHS1c.1373G>C (p.Gly458Ala)
n.380G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848108C>TCA405404084NPHS1c.1373G>A (p.Gly458Glu)
n.380G>A
19g.35848109C>ACA405404097NPHS1c.1372G>T (p.Gly458Trp)
n.379G>T
19g.35848109C>GCA405404095NPHS1c.1372G>C (p.Gly458Arg)
n.379G>C
19g.35848109C>TCA405404088NPHS1c.1372G>A (p.Gly458Arg)
n.379G>A
19g.35848110A>CCA507314339NPHS1c.1371T>G (p.Ala457=)
n.378T>G
19g.35848110A>GCA507314340NPHS1c.1371T>C (p.Ala457=)
n.378T>C
19g.35848110A>TCA507314341NPHS1c.1371T>A (p.Ala457=)
n.378T>A
19g.35848111G>ACA307786705NPHS1c.1370C>T (p.Ala457Val)
n.377C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848111G>CCA405404104NPHS1c.1370C>G (p.Ala457Gly)
n.377C>G
19g.35848111G=CA2333850458NPHS1c.1370C= (p.Ala457=)
n.377C=
19g.35848111G>TCA405404107NPHS1c.1370C>A (p.Ala457Asp)
n.377C>A
19g.35848111_35848112delinsGCCA2333850459NPHS1c.1369_1370delinsGC (p.Ala457=)
n.376_377delinsGC
19g.35848112C>ACA405404110NPHS1c.1369G>T (p.Ala457Ser)
n.376G>T
19g.35848112C=CA2333850460NPHS1c.1369G= (p.Ala457=)
n.376G=
19g.35848112C>GCA405404111NPHS1c.1369G>C (p.Ala457Pro)
n.376G>C
dbSNP gnomAD v2 gnomAD v4
19g.35848112C>TCA405404112NPHS1c.1369G>A (p.Ala457Thr)
n.376G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848114delCA16041979NPHS1c.1369del (p.Ala457LeufsTer5)
n.376del
ClinVar dbSNP
19g.35848113C>ACA507314342NPHS1c.1368G>T (p.Arg456=)
n.375G>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35848113C=CA2333850461NPHS1c.1368G= (p.Arg456=)
n.375G=
19g.35848113C>GCA507314343NPHS1c.1368G>C (p.Arg456=)
n.375G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35848113C>TCA9390452NPHS1c.1368G>A (p.Arg456=)
n.375G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.35848121dupCA2838291018NPHS1c.1361dup (p.Leu455AlafsTer?)
n.368dup
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.35848128dupCA2841207821NPHS1c.1355dup (p.Gln453ProfsTer?)
n.362dup
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
19g.35848128C=CA2333849910NPHS1c.1353G= (p.Glu451=)
n.360G=
19g.35848128C>GCA405404251NPHS1c.1353G>C (p.Glu451Asp)
n.360G>C
gnomAD v4
19g.35848128C>TCA507314353NPHS1c.1353G>A (p.Glu451=)
n.360G>A
dbSNP gnomAD v4
19g.35848129T>ACA405404258NPHS1c.1352A>T (p.Glu451Val)
n.359A>T
19g.35848129T>CCA405404261NPHS1c.1352A>G (p.Glu451Gly)
n.359A>G
gnomAD v4
19g.35848129T>GCA405404265NPHS1c.1352A>C (p.Glu451Ala)
n.359A>C
19g.35848130C>ACA405404277NPHS1c.1351G>T (p.Glu451Ter)
n.358G>T
19g.35848130C>GCA405404272NPHS1c.1351G>C (p.Glu451Gln)
n.358G>C
gnomAD v4
19g.35848130C>TCA405404269NPHS1c.1351G>A (p.Glu451Lys)
n.358G>A
COSMIC
19g.35848131T>ACA507314354NPHS1c.1350A>T (p.Pro450=)
n.357A>T
19g.35848131T>CCA9390455NPHS1c.1350A>G (p.Pro450=)
n.357A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848131T>GCA507314355NPHS1c.1350A>C (p.Pro450=)
n.357A>C
19g.35848131T=CA2333849911NPHS1c.1350A= (p.Pro450=)
n.357A=
19g.35848132G>ACA405404287NPHS1c.1349C>T (p.Pro450Leu)
n.356C>T
gnomAD v4
19g.35848132G>CCA405404297NPHS1c.1349C>G (p.Pro450Arg)
n.356C>G
19g.35848132G>TCA405404302NPHS1c.1349C>A (p.Pro450Gln)
n.356C>A
19g.35848133G>ACA405404307NPHS1c.1348C>T (p.Pro450Ser)
n.355C>T
gnomAD v4
19g.35848133G>CCA405404310NPHS1c.1348C>G (p.Pro450Ala)
n.355C>G
gnomAD v4
19g.35848133G>TCA405404311NPHS1c.1348C>A (p.Pro450Thr)
n.355C>A
gnomAD v4
19g.35848134G>ACA9390456NPHS1c.1347C>T (p.Pro449=)
n.354C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848134G>CCA507314356NPHS1c.1347C>G (p.Pro449=)
n.354C>G
19g.35848134G=CA2333849912NPHS1c.1347C= (p.Pro449=)
n.354C=
19g.35848134G>TCA507314357NPHS1c.1347C>A (p.Pro449=)
n.354C>A
COSMIC
19g.35848135G>ACA405404318NPHS1c.1346C>T (p.Pro449Leu)
n.353C>T
dbSNP gnomAD v4
19g.35848135G>CCA405404322NPHS1c.1346C>G (p.Pro449Arg)
n.353C>G
19g.35848135G=CA2333849913NPHS1c.1346C= (p.Pro449=)
n.353C=
19g.35848135G>TCA405404335NPHS1c.1346C>A (p.Pro449His)
n.353C>A
19g.35848136G>ACA405404347NPHS1c.1345C>T (p.Pro449Ser)
n.352C>T
19g.35848136G>CCA405404344NPHS1c.1345C>G (p.Pro449Ala)
n.352C>G
19g.35848136G>TCA405404340NPHS1c.1345C>A (p.Pro449Thr)
n.352C>A
19g.35848137A>CCA507314360NPHS1c.1344T>G (p.Gly448=)
n.351T>G
19g.35848137A>GCA507314358NPHS1c.1344T>C (p.Gly448=)
n.351T>C
19g.35848137A>TCA507314359NPHS1c.1344T>A (p.Gly448=)
n.351T>A
19g.35848138C>ACA405404353NPHS1c.1343G>T (p.Gly448Val)
n.350G>T
dbSNP
19g.35848138C=CA2333849914NPHS1c.1343G= (p.Gly448=)
n.350G=
19g.35848138C>GCA405404355NPHS1c.1343G>C (p.Gly448Ala)
n.350G>C
19g.35848138C>TCA405404358NPHS1c.1343G>A (p.Gly448Asp)
n.350G>A
19g.35848140dupCA2841207822NPHS1c.1343dup (p.Pro449SerfsTer?)
n.350dup
19g.35848139C>ACA405404360NPHS1c.1342G>T (p.Gly448Cys)
n.349G>T
19g.35848139C=CA2333849915NPHS1c.1342G= (p.Gly448=)
n.349G=
19g.35848139C>GCA405404362NPHS1c.1342G>C (p.Gly448Arg)
n.349G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848139C>TCA405404365NPHS1c.1342G>A (p.Gly448Ser)
n.349G>A
19g.35848140C>ACA405404367NPHS1c.1341G>T (p.Glu447Asp)
n.348G>T
19g.35848140C=CA2333849916NPHS1c.1341G= (p.Glu447=)
n.348G=
19g.35848140C>GCA405404369NPHS1c.1341G>C (p.Glu447Asp)
n.348G>C
19g.35848140C>TCA9390457NPHS1c.1341G>A (p.Glu447=)
n.348G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848141T>ACA405404377NPHS1c.1340A>T (p.Glu447Val)
n.347A>T
19g.35848141T>CCA405404380NPHS1c.1340A>G (p.Glu447Gly)
n.347A>G
19g.35848141T>GCA405404386NPHS1c.1340A>C (p.Glu447Ala)
n.347A>C
19g.35848142C>ACA405404398NPHS1c.1339G>T (p.Glu447Ter)
n.346G>T
19g.35848142C=CA2333849917NPHS1c.1339G= (p.Glu447=)
n.346G=
19g.35848142C>GCA405404394NPHS1c.1339G>C (p.Glu447Gln)
n.346G>C
gnomAD v4
19g.35848142C>TCA200833NPHS1c.1339G>A (p.Glu447Lys)
n.346G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848142_35848143delinsCACA2333849918NPHS1c.1338_1339delinsTG (p.Ile446=)
n.345_346delinsTG
19g.35848143A=CA2333849919NPHS1c.1338T= (p.Ile446=)
n.345T=
19g.35848143A>CCA307786769NPHS1c.1338T>G (p.Ile446Met)
n.345T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848143A>GCA9390459NPHS1c.1338T>C (p.Ile446=)
n.345T>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848143A>TCA507314361NPHS1c.1338T>A (p.Ile446=)
n.345T>A
19g.35848144delCA9390458NPHS1c.1338del (p.Ile446MetfsTer16)
n.345del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848144A=CA2333849920NPHS1c.1337T= (p.Ile446=)
n.344T=
19g.35848144A>CCA405404424NPHS1c.1337T>G (p.Ile446Ser)
n.344T>G
19g.35848144A>GCA405404427NPHS1c.1337T>C (p.Ile446Thr)
n.344T>C
dbSNP gnomAD v3 gnomAD v4
19g.35848144A>TCA250116NPHS1c.1337T>A (p.Ile446Asn)
n.344T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848145T>ACA405404431NPHS1c.1336A>T (p.Ile446Phe)
n.343A>T
19g.35848145T>CCA405404432NPHS1c.1336A>G (p.Ile446Val)
n.343A>G
19g.35848145T>GCA405404433NPHS1c.1336A>C (p.Ile446Leu)
n.343A>C
19g.35848146C>ACA9390460NPHS1c.1335G>T (p.Trp445Cys)
n.342G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848146C=CA2333849921NPHS1c.1335G= (p.Trp445=)
n.342G=
19g.35848146C>GCA405404437NPHS1c.1335G>C (p.Trp445Cys)
n.342G>C
19g.35848146C>TCA405404439NPHS1c.1335G>A (p.Trp445Ter)
n.342G>A
19g.35848147C>ACA405404454NPHS1c.1334G>T (p.Trp445Leu)
n.341G>T
19g.35848147C=CA2333849922NPHS1c.1334G= (p.Trp445=)
n.341G=
19g.35848147C>GCA405404452NPHS1c.1334G>C (p.Trp445Ser)
n.341G>C
19g.35848147C>TCA16041980NPHS1c.1334G>A (p.Trp445Ter)
n.341G>A
ClinVar dbSNP
19g.35848148A>CCA405404459NPHS1c.1333T>G (p.Trp445Gly)
n.340T>G
19g.35848148A>GCA405404472NPHS1c.1333T>C (p.Trp445Arg)
n.340T>C
19g.35848148A>TCA405404462NPHS1c.1333T>A (p.Trp445Arg)
n.340T>A
19g.35848149C>ACA507314364NPHS1c.1332G>T (p.Leu444=)
n.339G>T
19g.35848149C>GCA507314363NPHS1c.1332G>C (p.Leu444=)
n.339G>C
ClinVar
19g.35848149C>TCA507314362NPHS1c.1332G>A (p.Leu444=)
n.339G>A
ClinVar dbSNP
19g.35848150A>CCA405404476NPHS1c.1331T>G (p.Leu444Arg)
n.338T>G
19g.35848150A>GCA405404481NPHS1c.1331T>C (p.Leu444Pro)
n.338T>C
19g.35848150A>TCA405404478NPHS1c.1331T>A (p.Leu444Gln)
n.338T>A
19g.35848151G>ACA507314365NPHS1c.1330C>T (p.Leu444=)
n.337C>T
19g.35848151G>CCA405404485NPHS1c.1330C>G (p.Leu444Val)
n.337C>G
19g.35848151G>TCA405404487NPHS1c.1330C>A (p.Leu444Met)
n.337C>A
19g.35848152T>ACA405404490NPHS1c.1329A>T (p.Lys443Asn)
n.336A>T
19g.35848152T>CCA507314366NPHS1c.1329A>G (p.Lys443=)
n.336A>G
19g.35848152T>GCA405404494NPHS1c.1329A>C (p.Lys443Asn)
n.336A>C
19g.35848153T>ACA405404499NPHS1c.1328A>T (p.Lys443Ile)
n.335A>T
19g.35848153T>CCA405404502NPHS1c.1328A>G (p.Lys443Arg)
n.335A>G
19g.35848153T>GCA405404506NPHS1c.1328A>C (p.Lys443Thr)
n.335A>C
19g.35848154T>ACA405404514NPHS1c.1327A>T (p.Lys443Ter)
n.334A>T
19g.35848154T>CCA405404517NPHS1c.1327A>G (p.Lys443Glu)
n.334A>G
gnomAD v4
19g.35848154T>GCA405404522NPHS1c.1327A>C (p.Lys443Gln)
n.334A>C
19g.35848155C>ACA405404527NPHS1c.1326G>T (p.Gln442His)
n.333G>T
19g.35848155C>GCA405404530NPHS1c.1326G>C (p.Gln442His)
n.333G>C
19g.35848155C>TCA507314367NPHS1c.1326G>A (p.Gln442=)
n.333G>A
19g.35848156T>ACA405404542NPHS1c.1325A>T (p.Gln442Leu)
n.332A>T
19g.35848156T>CCA405404535NPHS1c.1325A>G (p.Gln442Arg)
n.332A>G
19g.35848156T>GCA405404539NPHS1c.1325A>C (p.Gln442Pro)
n.332A>C
19g.35848157G>ACA405404547NPHS1c.1324C>T (p.Gln442Ter)
n.331C>T
19g.35848157G>CCA405404552NPHS1c.1324C>G (p.Gln442Glu)
n.331C>G
dbSNP gnomAD v4
19g.35848157G=CA2333849923NPHS1c.1324C= (p.Gln442=)
n.331C=
19g.35848157G>TCA405404558NPHS1c.1324C>A (p.Gln442Lys)
n.331C>A
19g.35848158G>ACA507314368NPHS1c.1323C>T (p.Ala441=)
n.330C>T
19g.35848158G>CCA507314370NPHS1c.1323C>G (p.Ala441=)
n.330C>G
ClinVar dbSNP
19g.35848158G>TCA507314369NPHS1c.1323C>A (p.Ala441=)
n.330C>A
19g.35848159G>ACA405404565NPHS1c.1322C>T (p.Ala441Val)
n.329C>T
gnomAD v4
19g.35848159G>CCA405404567NPHS1c.1322C>G (p.Ala441Gly)
n.329C>G
19g.35848159G>TCA405404570NPHS1c.1322C>A (p.Ala441Asp)
n.329C>A
19g.35848160C>ACA405404577NPHS1c.1321G>T (p.Ala441Ser)
n.328G>T
dbSNP gnomAD v4
19g.35848160C=CA2333849924NPHS1c.1321G= (p.Ala441=)
n.328G=
19g.35848160C>GCA405404583NPHS1c.1321G>C (p.Ala441Pro)
n.328G>C
dbSNP gnomAD v2 gnomAD v4
19g.35848160C>TCA9390461NPHS1c.1321G>A (p.Ala441Thr)
n.328G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848161G>ACA9390462NPHS1c.1320C>T (p.Pro440=)
n.327C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848161G>CCA507314371NPHS1c.1320C>G (p.Pro440=)
n.327C>G
19g.35848161G=CA2333849925NPHS1c.1320C= (p.Pro440=)
n.327C=
19g.35848161G>TCA507314372NPHS1c.1320C>A (p.Pro440=)
n.327C>A
19g.35848163dupCA2841207823NPHS1c.1320dup (p.Ala441ArgfsTer7)
n.327dup
19g.35848161_35848164delinsAGGCCA2695228630NPHS1c.1317_1320delinsGCCT (p.Tyr439Ter)
n.324_327delinsGCCT
19g.35848162G>ACA405404602NPHS1c.1319C>T (p.Pro440Leu)
n.326C>T
19g.35848162G>CCA405404597NPHS1c.1319C>G (p.Pro440Arg)
n.326C>G
19g.35848162G>TCA405404593NPHS1c.1319C>A (p.Pro440His)
n.326C>A
19g.35848163G>ACA405404611NPHS1c.1318C>T (p.Pro440Ser)
n.325C>T
dbSNP COSMIC
19g.35848163G>CCA405404614NPHS1c.1318C>G (p.Pro440Ala)
n.325C>G
gnomAD v4
19g.35848163G=CA2333849926NPHS1c.1318C= (p.Pro440=)
n.325C=
19g.35848163G>TCA405404616NPHS1c.1318C>A (p.Pro440Thr)
n.325C>A
19g.35848164A=CA2333849927NPHS1c.1317T= (p.Tyr439=)
n.324T=
19g.35848164A>CCA405404620NPHS1c.1317T>G (p.Tyr439Ter)
n.324T>G
19g.35848164A>GCA507314373NPHS1c.1317T>C (p.Tyr439=)
n.324T>C
19g.35848164A>TCA307786799NPHS1c.1317T>A (p.Tyr439Ter)
n.324T>A
dbSNP gnomAD v4
19g.35848165T>ACA405404628NPHS1c.1316A>T (p.Tyr439Phe)
n.323A>T
19g.35848165T>CCA405404631NPHS1c.1316A>G (p.Tyr439Cys)
n.323A>G
dbSNP
19g.35848165T>GCA405404637NPHS1c.1316A>C (p.Tyr439Ser)
n.323A>C
19g.35848165T=CA2333849928NPHS1c.1316A= (p.Tyr439=)
n.323A=
19g.35848166C>ACA405404640NPHS1c.1316-1G>T (n.1316-1G>T)
n.323-1G>T
gnomAD v4
19g.35848166C=CA2333849931NPHS1c.1316-1G= (n.1316-1G=)
n.323-1G=
19g.35848166C>GCA405404643NPHS1c.1316-1G>C (n.1316-1G>C)
n.323-1G>C
ClinVar dbSNP
19g.35848166C>TCA405404646NPHS1c.1316-1G>A (n.1316-1G>A)
n.323-1G>A
19g.35848167T>ACA405404660NPHS1c.1316-2A>T (n.1316-2A>T)
n.323-2A>T
19g.35848167T>CCA405404655NPHS1c.1316-2A>G (n.1316-2A>G)
n.323-2A>G
ClinVar dbSNP
19g.35848167T>GCA405404650NPHS1c.1316-2A>C (n.1316-2A>C)
n.323-2A>C
19g.35848167T=CA2333849932NPHS1c.1316-2A= (n.1316-2A=)
n.323-2A=
19g.35848168G>ACA2841207825NPHS1c.1316-3C>T (n.1316-3C>T)
n.323-3C>T
19g.35848170_35848173delCA2841207824NPHS1c.1316-6_1316-3del (n.1316-6_1316-3del)
n.323-6_323-3del
19g.35848169G=CA2333849933NPHS1c.1316-4C= (n.1316-4C=)
n.323-4C=
19g.35848169G>TCA633060959NPHS1c.1316-4C>A (n.1316-4C>A)
n.323-4C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35848170C>ACA307786800NPHS1c.1316-5G>T (n.1316-5G>T)
n.323-5G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35848170C=CA2333849934NPHS1c.1316-5G= (n.1316-5G=)
n.323-5G=
19g.35848170C>GCA9390464NPHS1c.1316-5G>C (n.1316-5G>C)
n.323-5G>C
ClinVar dbSNP ExAC gnomAD v2
19g.35848170C>TCA9390463NPHS1c.1316-5G>A (n.1316-5G>A)
n.323-5G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848171G>ACA9390465NPHS1c.1316-6C>T (n.1316-6C>T)
n.323-6C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848171G>CCA2576758933NPHS1c.1316-6C>G (n.1316-6C>G)
n.323-6C>G
19g.35848171G=CA2333849935NPHS1c.1316-6C= (n.1316-6C=)
n.323-6C=
19g.35848171G>TCA2584603399NPHS1c.1316-6C>A (n.1316-6C>A)
n.323-6C>A
dbSNP gnomAD v4

Number of alleles fetched