Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35848279T>ACA405405002NPHS1c.1289A>T (p.Lys430Met)
n.296A>T
19g.35848279T>CCA9390485NPHS1c.1289A>G (p.Lys430Arg)
n.296A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848279T>GCA405405007NPHS1c.1289A>C (p.Lys430Thr)
n.296A>C
gnomAD v4
19g.35848279T=CA2333850056NPHS1c.1289A= (p.Lys430=)
n.296A=
19g.35848280T>ACA405405013NPHS1c.1288A>T (p.Lys430Ter)
n.295A>T
19g.35848280T>CCA405405018NPHS1c.1288A>G (p.Lys430Glu)
n.295A>G
19g.35848280T>GCA405405022NPHS1c.1288A>C (p.Lys430Gln)
n.295A>C
19g.35848281G>ACA507314416NPHS1c.1287C>T (p.Phe429=)
n.294C>T
gnomAD v4
19g.35848281G>CCA405405026NPHS1c.1287C>G (p.Phe429Leu)
n.294C>G
19g.35848281G>TCA405405027NPHS1c.1287C>A (p.Phe429Leu)
n.294C>A
19g.35848282A=CA2333850057NPHS1c.1286T= (p.Phe429=)
n.293T=
19g.35848282A>CCA405405031NPHS1c.1286T>G (p.Phe429Cys)
n.293T>G
19g.35848282A>GCA405405034NPHS1c.1286T>C (p.Phe429Ser)
n.293T>C
dbSNP gnomAD v2
19g.35848282A>TCA405405037NPHS1c.1286T>A (p.Phe429Tyr)
n.293T>A
19g.35848283A=CA2333850059NPHS1c.1285T= (p.Phe429=)
n.292T=
19g.35848283A>CCA405405044NPHS1c.1285T>G (p.Phe429Val)
n.292T>G
dbSNP gnomAD v2 gnomAD v4
19g.35848283A>GCA405405047NPHS1c.1285T>C (p.Phe429Leu)
n.292T>C
19g.35848283A>TCA405405051NPHS1c.1285T>A (p.Phe429Ile)
n.292T>A
19g.35848284G>ACA507314419NPHS1c.1284C>T (p.Thr428=)
n.291C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35848284G>CCA507314420NPHS1c.1284C>G (p.Thr428=)
n.291C>G
19g.35848284G=CA2333850062NPHS1c.1284C= (p.Thr428=)
n.291C=
19g.35848284G>TCA507314421NPHS1c.1284C>A (p.Thr428=)
n.291C>A
19g.35848285G>ACA405405056NPHS1c.1283C>T (p.Thr428Ile)
n.290C>T
19g.35848285G>CCA9390486NPHS1c.1283C>G (p.Thr428Ser)
n.290C>G
dbSNP ExAC gnomAD v4
19g.35848285G=CA2333850065NPHS1c.1283C= (p.Thr428=)
n.290C=
19g.35848285G>TCA405405061NPHS1c.1283C>A (p.Thr428Asn)
n.290C>A
gnomAD v4
19g.35848286T>ACA405405066NPHS1c.1282A>T (p.Thr428Ser)
n.289A>T
19g.35848286T>CCA405405069NPHS1c.1282A>G (p.Thr428Ala)
n.289A>G
19g.35848286T>GCA405405072NPHS1c.1282A>C (p.Thr428Pro)
n.289A>C
dbSNP gnomAD v4
19g.35848286T=CA2333850068NPHS1c.1282A= (p.Thr428=)
n.289A=
19g.35848287C>ACA405405081NPHS1c.1281G>T (p.Glu427Asp)
n.288G>T
19g.35848287C>GCA405405077NPHS1c.1281G>C (p.Glu427Asp)
n.288G>C
gnomAD v4
19g.35848287C>TCA507314423NPHS1c.1281G>A (p.Glu427=)
n.288G>A
ClinVar gnomAD v4
19g.35848288T>ACA405405086NPHS1c.1280A>T (p.Glu427Val)
n.287A>T
19g.35848288T>CCA405405089NPHS1c.1280A>G (p.Glu427Gly)
n.287A>G
19g.35848288T>GCA405405092NPHS1c.1280A>C (p.Glu427Ala)
n.287A>C
19g.35848289C>ACA405405097NPHS1c.1279G>T (p.Glu427Ter)
n.286G>T
ClinVar dbSNP
19g.35848289C>GCA405405109NPHS1c.1279G>C (p.Glu427Gln)
n.286G>C
19g.35848289C>TCA405405112NPHS1c.1279G>A (p.Glu427Lys)
n.286G>A
19g.35848290C>ACA405405116NPHS1c.1278G>T (p.Lys426Asn)
n.285G>T
19g.35848290C>GCA405405118NPHS1c.1278G>C (p.Lys426Asn)
n.285G>C
19g.35848290C>TCA507314427NPHS1c.1278G>A (p.Lys426=)
n.285G>A
ClinVar dbSNP gnomAD v4
19g.35848291T>ACA405405123NPHS1c.1277A>T (p.Lys426Met)
n.284A>T
19g.35848291T>CCA405405130NPHS1c.1277A>G (p.Lys426Arg)
n.284A>G
19g.35848291T>GCA405405127NPHS1c.1277A>C (p.Lys426Thr)
n.284A>C
19g.35848292T>ACA405405134NPHS1c.1276A>T (p.Lys426Ter)
n.283A>T
19g.35848292T>CCA405405137NPHS1c.1276A>G (p.Lys426Glu)
n.283A>G
gnomAD v4
19g.35848292T>GCA405405141NPHS1c.1276A>C (p.Lys426Gln)
n.283A>C
19g.35848292_35848293delinsTGCA2333850070NPHS1c.1275_1276delinsCA (p.Thr425=)
n.282_283delinsCA
19g.35848293G>ACA507314428NPHS1c.1275C>T (p.Thr425=)
n.282C>T
ClinVar
19g.35848293G>CCA507314432NPHS1c.1275C>G (p.Thr425=)
n.282C>G
19g.35848293G>TCA507314434NPHS1c.1275C>A (p.Thr425=)
n.282C>A
19g.35848294delCA250113NPHS1c.1275del (p.Lys426ArgfsTer10)
n.282del
ClinVar dbSNP
19g.35848294G>ACA405405142NPHS1c.1274C>T (p.Thr425Ile)
n.281C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848294G>CCA405405146NPHS1c.1274C>G (p.Thr425Ser)
n.281C>G
19g.35848294G=CA2333850076NPHS1c.1274C= (p.Thr425=)
n.281C=
19g.35848294G>TCA405405143NPHS1c.1274C>A (p.Thr425Asn)
n.281C>A
19g.35848295T>ACA405405149NPHS1c.1273A>T (p.Thr425Ser)
n.280A>T
19g.35848295T>CCA405405150NPHS1c.1273A>G (p.Thr425Ala)
n.280A>G
gnomAD v4
19g.35848295T>GCA405405151NPHS1c.1273A>C (p.Thr425Pro)
n.280A>C
19g.35848296G>ACA507314437NPHS1c.1272C>T (p.Phe424=)
n.279C>T
19g.35848296G>CCA405405152NPHS1c.1272C>G (p.Phe424Leu)
n.279C>G
19g.35848296G>TCA405405154NPHS1c.1272C>A (p.Phe424Leu)
n.279C>A
19g.35848297A>CCA405405156NPHS1c.1271T>G (p.Phe424Cys)
n.278T>G
19g.35848297A>GCA405405157NPHS1c.1271T>C (p.Phe424Ser)
n.278T>C
19g.35848297A>TCA405405158NPHS1c.1271T>A (p.Phe424Tyr)
n.278T>A
19g.35848298A>CCA405405160NPHS1c.1270T>G (p.Phe424Val)
n.277T>G
gnomAD v4
19g.35848298A>GCA405405161NPHS1c.1270T>C (p.Phe424Leu)
n.277T>C
COSMIC
19g.35848298A>TCA405405163NPHS1c.1270T>A (p.Phe424Ile)
n.277T>A
19g.35848299G>ACA507314438NPHS1c.1269C>T (p.Ala423=)
n.276C>T
gnomAD v4
19g.35848299G>CCA507314440NPHS1c.1269C>G (p.Ala423=)
n.276C>G
19g.35848299G>TCA507314439NPHS1c.1269C>A (p.Ala423=)
n.276C>A
19g.35848300G>ACA405405166NPHS1c.1268C>T (p.Ala423Val)
n.275C>T
dbSNP gnomAD v4
19g.35848300G>CCA9390487NPHS1c.1268C>G (p.Ala423Gly)
n.275C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848300G=CA2333850078NPHS1c.1268C= (p.Ala423=)
n.275C=
19g.35848300G>TCA9390488NPHS1c.1268C>A (p.Ala423Asp)
n.275C>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848301C>ACA405405179NPHS1c.1267G>T (p.Ala423Ser)
n.274G>T
19g.35848301C>GCA405405187NPHS1c.1267G>C (p.Ala423Pro)
n.274G>C
19g.35848301C>TCA405405181NPHS1c.1267G>A (p.Ala423Thr)
n.274G>A
19g.35848302T>ACA405405190NPHS1c.1266A>T (p.Glu422Asp)
n.273A>T
19g.35848302T>CCA507314444NPHS1c.1266A>G (p.Glu422=)
n.273A>G
19g.35848302T>GCA405405194NPHS1c.1266A>C (p.Glu422Asp)
n.273A>C
19g.35848303T>ACA405405197NPHS1c.1265A>T (p.Glu422Val)
n.272A>T
19g.35848303T>CCA405405200NPHS1c.1265A>G (p.Glu422Gly)
n.272A>G
19g.35848303T>GCA405405203NPHS1c.1265A>C (p.Glu422Ala)
n.272A>C
19g.35848304C>ACA405405207NPHS1c.1264G>T (p.Glu422Ter)
n.271G>T
19g.35848304C>GCA405405211NPHS1c.1264G>C (p.Glu422Gln)
n.271G>C
19g.35848304C>TCA405405215NPHS1c.1264G>A (p.Glu422Lys)
n.271G>A
19g.35848305A>CCA405405219NPHS1c.1263T>G (p.Ser421Arg)
n.270T>G
19g.35848305A>GCA507314449NPHS1c.1263T>C (p.Ser421=)
n.270T>C
19g.35848305A>TCA405405223NPHS1c.1263T>A (p.Ser421Arg)
n.270T>A
19g.35848306C>ACA405405238NPHS1c.1262G>T (p.Ser421Ile)
n.269G>T
gnomAD v4
19g.35848306C>GCA405405234NPHS1c.1262G>C (p.Ser421Thr)
n.269G>C
19g.35848306C>TCA405405231NPHS1c.1262G>A (p.Ser421Asn)
n.269G>A
gnomAD v4
19g.35848307T>ACA405405243NPHS1c.1261A>T (p.Ser421Cys)
n.268A>T
19g.35848307T>CCA405405248NPHS1c.1261A>G (p.Ser421Gly)
n.268A>G
gnomAD v4
19g.35848307T>GCA405405252NPHS1c.1261A>C (p.Ser421Arg)
n.268A>C
19g.35848309_35848321delCA2576758941NPHS1c.1249_1261del (p.Cys417ValfsTer15)
n.256_268del
19g.35848308G>ACA507314452NPHS1c.1260C>T (p.Phe420=)
n.267C>T
19g.35848308G>CCA405405255NPHS1c.1260C>G (p.Phe420Leu)
n.267C>G
19g.35848308G>TCA405405259NPHS1c.1260C>A (p.Phe420Leu)
n.267C>A
19g.35848309A>CCA405405263NPHS1c.1259T>G (p.Phe420Cys)
n.266T>G
19g.35848309A>GCA405405268NPHS1c.1259T>C (p.Phe420Ser)
n.266T>C
19g.35848309A>TCA405405273NPHS1c.1259T>A (p.Phe420Tyr)
n.266T>A
19g.35848310A=CA2333850080NPHS1c.1258T= (p.Phe420=)
n.265T=
19g.35848310A>CCA9390489NPHS1c.1258T>G (p.Phe420Val)
n.265T>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848310A>GCA405405279NPHS1c.1258T>C (p.Phe420Leu)
n.265T>C
19g.35848310A>TCA405405282NPHS1c.1258T>A (p.Phe420Ile)
n.265T>A
19g.35848311G>ACA507314454NPHS1c.1257C>T (p.Ala419=)
n.264C>T
19g.35848311G>CCA507314456NPHS1c.1257C>G (p.Ala419=)
n.264C>G
19g.35848311G>TCA507314458NPHS1c.1257C>A (p.Ala419=)
n.264C>A
19g.35848312G>ACA405405298NPHS1c.1256C>T (p.Ala419Val)
n.263C>T
19g.35848312G>CCA405405303NPHS1c.1256C>G (p.Ala419Gly)
n.263C>G
dbSNP gnomAD v4
19g.35848312G=CA2333850082NPHS1c.1256C= (p.Ala419=)
n.263C=
19g.35848312G>TCA405405288NPHS1c.1256C>A (p.Ala419Asp)
n.263C>A
gnomAD v4
19g.35848313C>ACA307787011NPHS1c.1255G>T (p.Ala419Ser)
n.262G>T
dbSNP gnomAD v4
19g.35848313C=CA2333850085NPHS1c.1255G= (p.Ala419=)
n.262G=
19g.35848313C>GCA405405307NPHS1c.1255G>C (p.Ala419Pro)
n.262G>C
19g.35848313C>TCA405405308NPHS1c.1255G>A (p.Ala419Thr)
n.262G>A
dbSNP gnomAD v2 gnomAD v4
19g.35848314C>ACA405405309NPHS1c.1254G>T (p.Glu418Asp)
n.261G>T
19g.35848314C>GCA405405312NPHS1c.1254G>C (p.Glu418Asp)
n.261G>C
19g.35848314C>TCA507314463NPHS1c.1254G>A (p.Glu418=)
n.261G>A
19g.35848315T>ACA405405316NPHS1c.1253A>T (p.Glu418Val)
n.260A>T
19g.35848315T>CCA405405319NPHS1c.1253A>G (p.Glu418Gly)
n.260A>G
19g.35848315T>GCA405405322NPHS1c.1253A>C (p.Glu418Ala)
n.260A>C
19g.35848316C>ACA405405329NPHS1c.1252G>T (p.Glu418Ter)
n.259G>T
19g.35848316C>GCA405405332NPHS1c.1252G>C (p.Glu418Gln)
n.259G>C
19g.35848316C>TCA405405339NPHS1c.1252G>A (p.Glu418Lys)
n.259G>A
COSMIC
19g.35848317A=CA2333850089NPHS1c.1251T= (p.Cys417=)
n.258T=
19g.35848317A>CCA405405340NPHS1c.1251T>G (p.Cys417Trp)
n.258T>G
19g.35848317A>GCA507314467NPHS1c.1251T>C (p.Cys417=)
n.258T>C
dbSNP gnomAD v4
19g.35848317A>TCA405405343NPHS1c.1251T>A (p.Cys417Ter)
n.258T>A
19g.35848318C>ACA250111NPHS1c.1250G>T (p.Cys417Phe)
n.257G>T
ClinVar dbSNP
19g.35848318C=CA2333850093NPHS1c.1250G= (p.Cys417=)
n.257G=
19g.35848318C>GCA405405352NPHS1c.1250G>C (p.Cys417Ser)
n.257G>C
19g.35848318C>TCA405405349NPHS1c.1250G>A (p.Cys417Tyr)
n.257G>A
dbSNP gnomAD v3 gnomAD v4
19g.35848319A=CA2333850095NPHS1c.1249T= (p.Cys417=)
n.256T=
19g.35848319A>CCA405405361NPHS1c.1249T>G (p.Cys417Gly)
n.256T>G
19g.35848319A>GCA9390490NPHS1c.1249T>C (p.Cys417Arg)
n.256T>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848319A>TCA405405369NPHS1c.1249T>A (p.Cys417Ser)
n.256T>A
19g.35848320T>ACA507314470NPHS1c.1248A>T (p.Thr416=)
n.255A>T
19g.35848320T>CCA507314471NPHS1c.1248A>G (p.Thr416=)
n.255A>G
ClinVar dbSNP gnomAD v4
19g.35848320T>GCA507314472NPHS1c.1248A>C (p.Thr416=)
n.255A>C
19g.35848320dupCA2695228632NPHS1c.1248dup (p.Cys417MetfsTer2)
n.255dup
19g.35848321G>ACA9390491NPHS1c.1247C>T (p.Thr416Ile)
n.254C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848321G>CCA405405378NPHS1c.1247C>G (p.Thr416Arg)
n.254C>G
19g.35848321G=CA2333850099NPHS1c.1247C= (p.Thr416=)
n.254C=
19g.35848321G>TCA405405382NPHS1c.1247C>A (p.Thr416Lys)
n.254C>A
19g.35848322T>ACA405405387NPHS1c.1246A>T (p.Thr416Ser)
n.253A>T
gnomAD v4
19g.35848322T>CCA405405390NPHS1c.1246A>G (p.Thr416Ala)
n.253A>G
19g.35848322T>GCA405405392NPHS1c.1246A>C (p.Thr416Pro)
n.253A>C
19g.35848323G>ACA507314474NPHS1c.1245C>T (p.Leu415=)
n.252C>T
dbSNP
19g.35848323G>CCA507314475NPHS1c.1245C>G (p.Leu415=)
n.252C>G
19g.35848323G=CA2333850101NPHS1c.1245C= (p.Leu415=)
n.252C=
19g.35848323G>TCA9390492NPHS1c.1245C>A (p.Leu415=)
n.252C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848324A=CA2333850104NPHS1c.1244T= (p.Leu415=)
n.251T=
19g.35848324A>CCA405405400NPHS1c.1244T>G (p.Leu415Arg)
n.251T>G
19g.35848324A>GCA405405415NPHS1c.1244T>C (p.Leu415Pro)
n.251T>C
dbSNP gnomAD v3 gnomAD v4
19g.35848324A>TCA405405420NPHS1c.1244T>A (p.Leu415His)
n.251T>A
19g.35848325G>ACA405405427NPHS1c.1243C>T (p.Leu415Phe)
n.250C>T
19g.35848325G>CCA405405429NPHS1c.1243C>G (p.Leu415Val)
n.250C>G
19g.35848325G>TCA405405424NPHS1c.1243C>A (p.Leu415Ile)
n.250C>A
19g.35848327dupCA2695228634NPHS1c.1243dup (p.Leu415ProfsTer4)
n.250dup
19g.35848326G>ACA507314479NPHS1c.1242C>T (p.Thr414=)
n.249C>T
dbSNP gnomAD v4
19g.35848326G>CCA507314480NPHS1c.1242C>G (p.Thr414=)
n.249C>G
19g.35848326G=CA2333850107NPHS1c.1242C= (p.Thr414=)
n.249C=
19g.35848326G>TCA507314481NPHS1c.1242C>A (p.Thr414=)
n.249C>A
COSMIC
19g.35848326_35848327delinsAACA645619645NPHS1c.1241_1242delinsTT (p.Thr414Ile)
n.248_249delinsTT
COSMIC
19g.35848327G>ACA9390493NPHS1c.1241C>T (p.Thr414Ile)
n.248C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848327G>CCA405405435NPHS1c.1241C>G (p.Thr414Ser)
n.248C>G
19g.35848327G=CA2333850109NPHS1c.1241C= (p.Thr414=)
n.248C=
19g.35848327G>TCA405405438NPHS1c.1241C>A (p.Thr414Asn)
n.248C>A
dbSNP
19g.35848328T>ACA405405447NPHS1c.1240A>T (p.Thr414Ser)
n.247A>T
19g.35848328T>CCA405405450NPHS1c.1240A>G (p.Thr414Ala)
n.247A>G
ClinVar dbSNP
19g.35848328T>GCA405405453NPHS1c.1240A>C (p.Thr414Pro)
n.247A>C
19g.35848328T=CA2333850112NPHS1c.1240A= (p.Thr414=)
n.247A=
19g.35848329C>ACA507314483NPHS1c.1239G>T (p.Leu413=)
n.246G>T
dbSNP gnomAD v4
19g.35848329C=CA2333850115NPHS1c.1239G= (p.Leu413=)
n.246G=
19g.35848329C>GCA507314485NPHS1c.1239G>C (p.Leu413=)
n.246G>C
19g.35848329C>TCA507314484NPHS1c.1239G>A (p.Leu413=)
n.246G>A
ClinVar dbSNP gnomAD v4
19g.35848330A=CA2333850117NPHS1c.1238T= (p.Leu413=)
n.245T=
19g.35848330A>CCA405405465NPHS1c.1238T>G (p.Leu413Arg)
n.245T>G
19g.35848330A>GCA405405481NPHS1c.1238T>C (p.Leu413Pro)
n.245T>C
dbSNP gnomAD v3 gnomAD v4
19g.35848330A>TCA405405482NPHS1c.1238T>A (p.Leu413Gln)
n.245T>A
19g.35848331G>ACA507314487NPHS1c.1237C>T (p.Leu413=)
n.244C>T
ClinVar dbSNP
19g.35848331G>CCA9390494NPHS1c.1237C>G (p.Leu413Val)
n.244C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848331G=CA2333850120NPHS1c.1237C= (p.Leu413=)
n.244C=
19g.35848331G>TCA405405496NPHS1c.1237C>A (p.Leu413Met)
n.244C>A
19g.35848332A=CA2333850123NPHS1c.1236T= (p.Gly412=)
n.243T=
19g.35848332A>CCA507314488NPHS1c.1236T>G (p.Gly412=)
n.243T>G
dbSNP
19g.35848332A>GCA507314489NPHS1c.1236T>C (p.Gly412=)
n.243T>C
19g.35848332A>TCA507314490NPHS1c.1236T>A (p.Gly412=)
n.243T>A
19g.35848332_35848333delinsACCA2333850122NPHS1c.1235_1236delinsGT (p.Gly412=)
n.242_243delinsGT
19g.35848333C>ACA405405505NPHS1c.1235G>T (p.Gly412Val)
n.242G>T
COSMIC
19g.35848333C=CA2333850127NPHS1c.1235G= (p.Gly412=)
n.242G=
19g.35848333C>GCA405405507NPHS1c.1235G>C (p.Gly412Ala)
n.242G>C
19g.35848333C>TCA307787065NPHS1c.1235G>A (p.Gly412Asp)
n.242G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848334delCA881819541NPHS1c.1235del (p.Gly412ValfsTer2)
n.242del
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35848334C>ACA250109NPHS1c.1234G>T (p.Gly412Cys)
n.241G>T
ClinVar dbSNP ExAC gnomAD v4
19g.35848334C=CA2333850131NPHS1c.1234G= (p.Gly412=)
n.241G=
19g.35848334C>GCA9390495NPHS1c.1234G>C (p.Gly412Arg)
n.241G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848334C>TCA9390496NPHS1c.1234G>A (p.Gly412Ser)
n.241G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848335G>ACA9390497NPHS1c.1233C>T (p.Asn411=)
n.240C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848335G>CCA405405533NPHS1c.1233C>G (p.Asn411Lys)
n.240C>G
dbSNP gnomAD v2 gnomAD v4
19g.35848335G=CA2333850135NPHS1c.1233C= (p.Asn411=)
n.240C=
19g.35848335G>TCA405405535NPHS1c.1233C>A (p.Asn411Lys)
n.240C>A
dbSNP
19g.35848336T>ACA405405541NPHS1c.1232A>T (p.Asn411Ile)
n.239A>T
19g.35848336T>CCA405405543NPHS1c.1232A>G (p.Asn411Ser)
n.239A>G
19g.35848336T>GCA405405547NPHS1c.1232A>C (p.Asn411Thr)
n.239A>C
19g.35848337T>ACA405405549NPHS1c.1231A>T (p.Asn411Tyr)
n.238A>T
19g.35848337T>CCA405405554NPHS1c.1231A>G (p.Asn411Asp)
n.238A>G
dbSNP gnomAD v2 gnomAD v4
19g.35848337T>GCA405405558NPHS1c.1231A>C (p.Asn411His)
n.238A>C
19g.35848337T=CA2333850142NPHS1c.1231A= (p.Asn411=)
n.238A=
19g.35848338G>ACA507314497NPHS1c.1230C>T (p.Asp410=)
n.237C>T
19g.35848338G>CCA405405561NPHS1c.1230C>G (p.Asp410Glu)
n.237C>G
19g.35848338G>TCA405405565NPHS1c.1230C>A (p.Asp410Glu)
n.237C>A
19g.35848339T>ACA405405571NPHS1c.1229A>T (p.Asp410Val)
n.236A>T
gnomAD v4 COSMIC
19g.35848339T>CCA405405574NPHS1c.1229A>G (p.Asp410Gly)
n.236A>G
19g.35848339T>GCA405405578NPHS1c.1229A>C (p.Asp410Ala)
n.236A>C
19g.35848340C>ACA405405588NPHS1c.1228G>T (p.Asp410Tyr)
n.235G>T
19g.35848340C>GCA405405591NPHS1c.1228G>C (p.Asp410His)
n.235G>C
19g.35848340C>TCA405405585NPHS1c.1228G>A (p.Asp410Asn)
n.235G>A
19g.35848341delCA2695198193NPHS1c.1228del (p.Asp410ThrfsTer4)
n.235del
ClinVar
19g.35848341C>ACA405405592NPHS1c.1227G>T (p.Glu409Asp)
n.234G>T
19g.35848341C>GCA405405593NPHS1c.1227G>C (p.Glu409Asp)
n.234G>C
19g.35848341C>TCA507314500NPHS1c.1227G>A (p.Glu409=)
n.234G>A
ClinVar gnomAD v4
19g.35848342T>ACA405405594NPHS1c.1226A>T (p.Glu409Val)
n.233A>T
19g.35848342T>CCA405405595NPHS1c.1226A>G (p.Glu409Gly)
n.233A>G
dbSNP
19g.35848342T>GCA405405597NPHS1c.1226A>C (p.Glu409Ala)
n.233A>C
19g.35848342T=CA2333850145NPHS1c.1226A= (p.Glu409=)
n.233A=
19g.35848343C>ACA405405600NPHS1c.1225G>T (p.Glu409Ter)
n.232G>T
19g.35848343C>GCA405405603NPHS1c.1225G>C (p.Glu409Gln)
n.232G>C
19g.35848343C>TCA405405605NPHS1c.1225G>A (p.Glu409Lys)
n.232G>A
19g.35848343_35848345delCA2695228636NPHS1c.1223_1225del (p.Arg408_Glu409delinsGln)
n.230_232del
19g.35848344C>ACA507314504NPHS1c.1224G>T (p.Arg408=)
n.231G>T
19g.35848344C>GCA507314505NPHS1c.1224G>C (p.Arg408=)
n.231G>C
19g.35848344C>TCA507314506NPHS1c.1224G>A (p.Arg408=)
n.231G>A
ClinVar
19g.35848345C>ACA405405613NPHS1c.1223G>T (p.Arg408Leu)
n.230G>T
19g.35848345C=CA2333850148NPHS1c.1223G= (p.Arg408=)
n.230G=
19g.35848345C>GCA405405614NPHS1c.1223G>C (p.Arg408Pro)
n.230G>C
19g.35848345C>TCA9390498NPHS1c.1223G>A (p.Arg408Gln)
n.230G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848345_35848346delinsTACA2695228637NPHS1c.1222_1223delinsTA (p.Arg408Ter)
n.229_230delinsTA
19g.35848346G>ACA9390499NPHS1c.1222C>T (p.Arg408Trp)
n.229C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848346G>CCA405405625NPHS1c.1222C>G (p.Arg408Gly)
n.229C>G
19g.35848346G=CA2333850151NPHS1c.1222C= (p.Arg408=)
n.229C=
19g.35848346G>TCA507314510NPHS1c.1222C>A (p.Arg408=)
n.229C>A
19g.35848347C>ACA507314511NPHS1c.1221G>T (p.Arg407=)
n.228G>T
19g.35848347C>GCA507314512NPHS1c.1221G>C (p.Arg407=)
n.228G>C
19g.35848347C>TCA507314513NPHS1c.1221G>A (p.Arg407=)
n.228G>A
ClinVar
19g.35848348C>ACA405405635NPHS1c.1220G>T (p.Arg407Leu)
n.227G>T
19g.35848348C=CA2333850153NPHS1c.1220G= (p.Arg407=)
n.227G=
19g.35848348C>GCA405405629NPHS1c.1220G>C (p.Arg407Pro)
n.227G>C
19g.35848348C>TCA9390500NPHS1c.1220G>A (p.Arg407Gln)
n.227G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848349G>ACA250107NPHS1c.1219C>T (p.Arg407Trp)
n.226C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848349G>CCA405405640NPHS1c.1219C>G (p.Arg407Gly)
n.226C>G
19g.35848349G=CA2333850155NPHS1c.1219C= (p.Arg407=)
n.226C=
19g.35848349G>TCA507314516NPHS1c.1219C>A (p.Arg407=)
n.226C>A
19g.35848350C>ACA507314518NPHS1c.1218G>T (p.Ala406=)
n.225G>T
19g.35848350C=CA2333850158NPHS1c.1218G= (p.Ala406=)
n.225G=
19g.35848350C>GCA507314517NPHS1c.1218G>C (p.Ala406=)
n.225G>C
19g.35848350C>TCA9390501NPHS1c.1218G>A (p.Ala406=)
n.225G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848351G>ACA9390502NPHS1c.1217C>T (p.Ala406Val)
n.224C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848351G>CCA405405652NPHS1c.1217C>G (p.Ala406Gly)
n.224C>G
19g.35848351G=CA2333850160NPHS1c.1217C= (p.Ala406=)
n.224C=
19g.35848351G>TCA405405653NPHS1c.1217C>A (p.Ala406Glu)
n.224C>A
COSMIC
19g.35848352C>ACA405405654NPHS1c.1216G>T (p.Ala406Ser)
n.223G>T
19g.35848352C>GCA405405655NPHS1c.1216G>C (p.Ala406Pro)
n.223G>C
19g.35848352C>TCA405405658NPHS1c.1216G>A (p.Ala406Thr)
n.223G>A
19g.35848353C>ACA507314524NPHS1c.1215G>T (p.Leu405=)
n.222G>T
19g.35848353C>GCA507314523NPHS1c.1215G>C (p.Leu405=)
n.222G>C
19g.35848353C>TCA507314522NPHS1c.1215G>A (p.Leu405=)
n.222G>A
gnomAD v4
19g.35848354A>CCA405405662NPHS1c.1214T>G (p.Leu405Arg)
n.221T>G
19g.35848354A>GCA405405667NPHS1c.1214T>C (p.Leu405Pro)
n.221T>C
19g.35848354A>TCA405405671NPHS1c.1214T>A (p.Leu405Gln)
n.221T>A
19g.35848355G>ACA507314527NPHS1c.1213C>T (p.Leu405=)
n.220C>T
19g.35848355G>CCA405405679NPHS1c.1213C>G (p.Leu405Val)
n.220C>G
19g.35848355G>TCA405405675NPHS1c.1213C>A (p.Leu405Met)
n.220C>A
19g.35848356G>ACA507314529NPHS1c.1212C>T (p.Phe404=)
n.219C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35848356G>CCA405405683NPHS1c.1212C>G (p.Phe404Leu)
n.219C>G
19g.35848356G=CA2333850162NPHS1c.1212C= (p.Phe404=)
n.219C=
19g.35848356G>TCA405405684NPHS1c.1212C>A (p.Phe404Leu)
n.219C>A
dbSNP
19g.35848357A>CCA405405685NPHS1c.1211T>G (p.Phe404Cys)
n.218T>G
19g.35848357A>GCA405405686NPHS1c.1211T>C (p.Phe404Ser)
n.218T>C
19g.35848357A>TCA405405689NPHS1c.1211T>A (p.Phe404Tyr)
n.218T>A
19g.35848358A=CA2333850165NPHS1c.1210T= (p.Phe404=)
n.217T=
19g.35848358A>CCA405405691NPHS1c.1210T>G (p.Phe404Val)
n.217T>G
19g.35848358A>GCA9390503NPHS1c.1210T>C (p.Phe404Leu)
n.217T>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848358A>TCA405405703NPHS1c.1210T>A (p.Phe404Ile)
n.217T>A
19g.35848359T>ACA507314531NPHS1c.1209A>T (p.Thr403=)
n.216A>T
19g.35848359T>CCA507314532NPHS1c.1209A>G (p.Thr403=)
n.216A>G
gnomAD v4
19g.35848359T>GCA507314533NPHS1c.1209A>C (p.Thr403=)
n.216A>C
19g.35848360G>ACA9390504NPHS1c.1208C>T (p.Thr403Ile)
n.215C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848360G>CCA405405713NPHS1c.1208C>G (p.Thr403Arg)
n.215C>G
19g.35848360G=CA2333850166NPHS1c.1208C= (p.Thr403=)
n.215C=
19g.35848360G>TCA405405715NPHS1c.1208C>A (p.Thr403Lys)
n.215C>A
19g.35848361T>ACA405405719NPHS1c.1207A>T (p.Thr403Ser)
n.214A>T
gnomAD v4
19g.35848361T>CCA405405722NPHS1c.1207A>G (p.Thr403Ala)
n.214A>G
19g.35848361T>GCA405405727NPHS1c.1207A>C (p.Thr403Pro)
n.214A>C
19g.35848362C>ACA507314534NPHS1c.1206G>T (p.Leu402=)
n.213G>T
19g.35848362C=CA2333850168NPHS1c.1206G= (p.Leu402=)
n.213G=
19g.35848362C>GCA507314535NPHS1c.1206G>C (p.Leu402=)
n.213G>C
ClinVar
19g.35848362C>TCA9390505NPHS1c.1206G>A (p.Leu402=)
n.213G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848363A>CCA405405734NPHS1c.1205T>G (p.Leu402Arg)
n.212T>G
19g.35848363A>GCA405405739NPHS1c.1205T>C (p.Leu402Pro)
n.212T>C
19g.35848363A>TCA405405736NPHS1c.1205T>A (p.Leu402Gln)
n.212T>A
19g.35848364G>ACA507314536NPHS1c.1204C>T (p.Leu402=)
n.211C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848364G>CCA405405744NPHS1c.1204C>G (p.Leu402Val)
n.211C>G
19g.35848364G=CA2333850169NPHS1c.1204C= (p.Leu402=)
n.211C=
19g.35848364G>TCA405405748NPHS1c.1204C>A (p.Leu402Met)
n.211C>A
19g.35848365G>ACA9390506NPHS1c.1203C>T (p.Asn401=)
n.210C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848365G>CCA405405754NPHS1c.1203C>G (p.Asn401Lys)
n.210C>G
19g.35848365G=CA2333850172NPHS1c.1203C= (p.Asn401=)
n.210C=
19g.35848365G>TCA307787112NPHS1c.1203C>A (p.Asn401Lys)
n.210C>A
dbSNP gnomAD v3 gnomAD v4
19g.35848366T>ACA405405760NPHS1c.1202A>T (p.Asn401Ile)
n.209A>T
19g.35848366T>CCA405405763NPHS1c.1202A>G (p.Asn401Ser)
n.209A>G
19g.35848366T>GCA405405766NPHS1c.1202A>C (p.Asn401Thr)
n.209A>C
dbSNP
19g.35848366T=CA2333850174NPHS1c.1202A= (p.Asn401=)
n.209A=
19g.35848367T>ACA405405771NPHS1c.1201A>T (p.Asn401Tyr)
n.208A>T
19g.35848367T>CCA405405772NPHS1c.1201A>G (p.Asn401Asp)
n.208A>G
19g.35848367T>GCA405405776NPHS1c.1201A>C (p.Asn401His)
n.208A>C
19g.35848368G>ACA507314537NPHS1c.1200C>T (p.Ser400=)
n.207C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848368G>CCA507314538NPHS1c.1200C>G (p.Ser400=)
n.207C>G
19g.35848368G=CA2333850177NPHS1c.1200C= (p.Ser400=)
n.207C=
19g.35848368G>TCA507314539NPHS1c.1200C>A (p.Ser400=)
n.207C>A
COSMIC
19g.35848369G>ACA405405784NPHS1c.1199C>T (p.Ser400Phe)
n.206C>T
19g.35848369G>CCA405405787NPHS1c.1199C>G (p.Ser400Cys)
n.206C>G
19g.35848369G=CA2333850179NPHS1c.1199C= (p.Ser400=)
n.206C=
19g.35848369G>TCA405405780NPHS1c.1199C>A (p.Ser400Tyr)
n.206C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848370A>CCA405405792NPHS1c.1198T>G (p.Ser400Ala)
n.205T>G
19g.35848370A>GCA405405794NPHS1c.1198T>C (p.Ser400Pro)
n.205T>C
19g.35848370A>TCA405405800NPHS1c.1198T>A (p.Ser400Thr)
n.205T>A
19g.35848371C>ACA405405803NPHS1c.1197G>T (p.Met399Ile)
n.204G>T
19g.35848371C=CA2333850180NPHS1c.1197G= (p.Met399=)
n.204G=
19g.35848371C>GCA405405806NPHS1c.1197G>C (p.Met399Ile)
n.204G>C
19g.35848371C>TCA307787113NPHS1c.1197G>A (p.Met399Ile)
n.204G>A
dbSNP gnomAD v3 gnomAD v4
19g.35848372A=CA2333850182NPHS1c.1196T= (p.Met399=)
n.203T=
19g.35848372A>CCA405405814NPHS1c.1196T>G (p.Met399Arg)
n.203T>G
19g.35848372A>GCA9390507NPHS1c.1196T>C (p.Met399Thr)
n.203T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848372A>TCA405405811NPHS1c.1196T>A (p.Met399Lys)
n.203T>A
19g.35848373T>ACA405405817NPHS1c.1195A>T (p.Met399Leu)
n.202A>T
19g.35848373T>CCA405405819NPHS1c.1195A>G (p.Met399Val)
n.202A>G
dbSNP gnomAD v3 gnomAD v4
19g.35848373T>GCA405405822NPHS1c.1195A>C (p.Met399Leu)
n.202A>C
19g.35848373T=CA2333850185NPHS1c.1195A= (p.Met399=)
n.202A=
19g.35848374G>ACA507314540NPHS1c.1194C>T (p.Ser398=)
n.201C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848374G>CCA507314542NPHS1c.1194C>G (p.Ser398=)
n.201C>G
19g.35848374G=CA2333850186NPHS1c.1194C= (p.Ser398=)
n.201C=
19g.35848374G>TCA507314543NPHS1c.1194C>A (p.Ser398=)
n.201C>A
19g.35848375G>ACA405405827NPHS1c.1193C>T (p.Ser398Phe)
n.200C>T
19g.35848375G>CCA405405830NPHS1c.1193C>G (p.Ser398Cys)
n.200C>G
19g.35848375G>TCA405405832NPHS1c.1193C>A (p.Ser398Tyr)
n.200C>A
19g.35848376A=CA2333850187NPHS1c.1192T= (p.Ser398=)
n.199T=
19g.35848376A>CCA405405837NPHS1c.1192T>G (p.Ser398Ala)
n.199T>G
19g.35848376A>GCA307787116NPHS1c.1192T>C (p.Ser398Pro)
n.199T>C
dbSNP gnomAD v4
19g.35848376A>TCA405405838NPHS1c.1192T>A (p.Ser398Thr)
n.199T>A
19g.35848377G>ACA507314548NPHS1c.1191C>T (p.Ile397=)
n.198C>T
19g.35848377G>CCA405405839NPHS1c.1191C>G (p.Ile397Met)
n.198C>G
19g.35848377G>TCA507314547NPHS1c.1191C>A (p.Ile397=)
n.198C>A
19g.35848378A>CCA405405840NPHS1c.1190T>G (p.Ile397Ser)
n.197T>G
19g.35848378A>GCA405405843NPHS1c.1190T>C (p.Ile397Thr)
n.197T>C
gnomAD v4
19g.35848378A>TCA405405846NPHS1c.1190T>A (p.Ile397Asn)
n.197T>A
19g.35848379T>ACA405405848NPHS1c.1189A>T (p.Ile397Phe)
n.196A>T
19g.35848379T>CCA405405852NPHS1c.1189A>G (p.Ile397Val)
n.196A>G
19g.35848379T>GCA405405855NPHS1c.1189A>C (p.Ile397Leu)
n.196A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35848379T=CA2333850188NPHS1c.1189A= (p.Ile397=)
n.196A=
19g.35848381_35848382delCA2580612601NPHS1c.1188_1189del (p.Ile397LeufsTer21)
n.195_196del
ClinVar

Number of alleles fetched