Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35848228T>CCA2584603412NPHS1c.1315+25A>G (n.1315+25A>G)
n.322+25A>G
gnomAD v4
19g.35848229T=CA2333849990NPHS1c.1315+24A= (n.1315+24A=)
n.322+24A=
19g.35848230G>ACA633060968NPHS1c.1315+23C>T (n.1315+23C>T)
n.322+23C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848230G=CA2333849992NPHS1c.1315+23C= (n.1315+23C=)
n.322+23C=
19g.35848230G>TCA2576758938NPHS1c.1315+23C>A (n.1315+23C>A)
n.322+23C>A
gnomAD v4
19g.35848230dupCA633060967NPHS1c.1315+23dup (n.1315+23dup)
n.322+23dup
dbSNP gnomAD v2 gnomAD v4
19g.35848231C>TCA657129011NPHS1c.1315+22G>A (n.1315+22G>A)
n.322+22G>A
COSMIC
19g.35848232T>ACA9390475NPHS1c.1315+21A>T (n.1315+21A>T)
n.322+21A>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848232T>CCA633060969NPHS1c.1315+21A>G (n.1315+21A>G)
n.322+21A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848232T=CA2333849996NPHS1c.1315+21A= (n.1315+21A=)
n.322+21A=
19g.35848233G>ACA2584603413NPHS1c.1315+20C>T (n.1315+20C>T)
n.322+20C>T
gnomAD v4
19g.35848234G=CA2333849999NPHS1c.1315+19C= (n.1315+19C=)
n.322+19C=
19g.35848234G>TCA633060970NPHS1c.1315+19C>A (n.1315+19C>A)
n.322+19C>A
dbSNP gnomAD v2 gnomAD v4
19g.35848235G>ACA633060971NPHS1c.1315+18C>T (n.1315+18C>T)
n.322+18C>T
dbSNP gnomAD v2 gnomAD v4
19g.35848235G>CCA2333850003NPHS1c.1315+18C>G (n.1315+18C>G)
n.322+18C>G
dbSNP
19g.35848235G=CA2333850001NPHS1c.1315+18C= (n.1315+18C=)
n.322+18C=
19g.35848235G>TCA657129024NPHS1c.1315+18C>A (n.1315+18C>A)
n.322+18C>A
COSMIC
19g.35848236C>ACA2584603414NPHS1c.1315+17G>T (n.1315+17G>T)
n.322+17G>T
gnomAD v4
19g.35848237C=CA2333850005NPHS1c.1315+16G= (n.1315+16G=)
n.322+16G=
19g.35848237C>TCA9390476NPHS1c.1315+16G>A (n.1315+16G>A)
n.322+16G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848238A=CA2333850007NPHS1c.1315+15T= (n.1315+15T=)
n.322+15T=
19g.35848238A>GCA9390477NPHS1c.1315+15T>C (n.1315+15T>C)
n.322+15T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848239G>ACA2576758939NPHS1c.1315+14C>T (n.1315+14C>T)
n.322+14C>T
19g.35848241G>ACA9390479NPHS1c.1315+12C>T (n.1315+12C>T)
n.322+12C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848241G=CA2333850012NPHS1c.1315+12C= (n.1315+12C=)
n.322+12C=
19g.35848241G>TCA9390478NPHS1c.1315+12C>A (n.1315+12C>A)
n.322+12C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35848242C=CA2333850013NPHS1c.1315+11G= (n.1315+11G=)
n.322+11G=
19g.35848242C>TCA2333850014NPHS1c.1315+11G>A (n.1315+11G>A)
n.322+11G>A
ClinVar dbSNP gnomAD v4
19g.35848244G>ACA2584603415NPHS1c.1315+9C>T (n.1315+9C>T)
n.322+9C>T
gnomAD v4
19g.35848245G>ACA2333850018NPHS1c.1315+8C>T (n.1315+8C>T)
n.322+8C>T
dbSNP
19g.35848245G=CA2333850016NPHS1c.1315+8C= (n.1315+8C=)
n.322+8C=
19g.35848246G>ACA9390480NPHS1c.1315+7C>T (n.1315+7C>T)
n.322+7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848246G=CA2333850021NPHS1c.1315+7C= (n.1315+7C=)
n.322+7C=
19g.35848247G=CA2333850024NPHS1c.1315+6C= (n.1315+6C=)
n.322+6C=
19g.35848247G>TCA307786927NPHS1c.1315+6C>A (n.1315+6C>A)
n.322+6C>A
dbSNP gnomAD v4 COSMIC
19g.35848248C>TCA2554896373NPHS1c.1315+5G>A (n.1315+5G>A)
n.322+5G>A
19g.35848251A=CA2333850028NPHS1c.1315+2T= (n.1315+2T=)
n.322+2T=
19g.35848251A>CCA405404726NPHS1c.1315+2T>G (n.1315+2T>G)
n.322+2T>G
dbSNP gnomAD v3 gnomAD v4
19g.35848251A>GCA405404730NPHS1c.1315+2T>C (n.1315+2T>C)
n.322+2T>C
19g.35848251A>TCA405404734NPHS1c.1315+2T>A (n.1315+2T>A)
n.322+2T>A
19g.35848252C>ACA405404739NPHS1c.1315+1G>T (n.1315+1G>T)
n.322+1G>T
19g.35848252C>GCA405404742NPHS1c.1315+1G>C (n.1315+1G>C)
n.322+1G>C
19g.35848252C>TCA405404745NPHS1c.1315+1G>A (n.1315+1G>A)
n.322+1G>A
ClinVar gnomAD v4
19g.35848253A>CCA405404749NPHS1c.1315T>G (p.Tyr439Asp)
n.322T>G
19g.35848253A>GCA405404753NPHS1c.1315T>C (p.Tyr439His)
n.322T>C
gnomAD v4
19g.35848253A>TCA405404755NPHS1c.1315T>A (p.Tyr439Asn)
n.322T>A
19g.35848254T>ACA405404763NPHS1c.1314A>T (p.Lys438Asn)
n.321A>T
19g.35848254T>CCA507314382NPHS1c.1314A>G (p.Lys438=)
n.321A>G
19g.35848254T>GCA405404758NPHS1c.1314A>C (p.Lys438Asn)
n.321A>C
19g.35848257dupCA2584603417NPHS1c.1314dup (p.Tyr439IlefsTer9)
n.321dup
gnomAD v4
19g.35848257delCA2576758940NPHS1c.1314del (p.Lys438AsnfsTer24)
n.321del
19g.35848255T>ACA405404768NPHS1c.1313A>T (p.Lys438Ile)
n.320A>T
19g.35848255T>CCA405404772NPHS1c.1313A>G (p.Lys438Arg)
n.320A>G
19g.35848255T>GCA405404777NPHS1c.1313A>C (p.Lys438Thr)
n.320A>C
19g.35848256T>ACA405404782NPHS1c.1312A>T (p.Lys438Ter)
n.319A>T
19g.35848256T>CCA405404786NPHS1c.1312A>G (p.Lys438Glu)
n.319A>G
19g.35848256T>GCA405404791NPHS1c.1312A>C (p.Lys438Gln)
n.319A>C
19g.35848257T>ACA507314386NPHS1c.1311A>T (p.Val437=)
n.318A>T
dbSNP gnomAD v3 gnomAD v4
19g.35848257T>CCA507314387NPHS1c.1311A>G (p.Val437=)
n.318A>G
19g.35848257T>GCA507314388NPHS1c.1311A>C (p.Val437=)
n.318A>C
19g.35848257T=CA2333850031NPHS1c.1311A= (p.Val437=)
n.318A=
19g.35848258A>CCA405404796NPHS1c.1310T>G (p.Val437Gly)
n.317T>G
19g.35848258A>GCA405404800NPHS1c.1310T>C (p.Val437Ala)
n.317T>C
19g.35848258A>TCA405404804NPHS1c.1310T>A (p.Val437Glu)
n.317T>A
19g.35848259C>ACA405404809NPHS1c.1309G>T (p.Val437Leu)
n.316G>T
gnomAD v4
19g.35848259C=CA2333850034NPHS1c.1309G= (p.Val437=)
n.316G=
19g.35848259C>GCA405404813NPHS1c.1309G>C (p.Val437Leu)
n.316G>C
gnomAD v4
19g.35848259C>TCA9390481NPHS1c.1309G>A (p.Val437Ile)
n.316G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848260G>ACA9390482NPHS1c.1308C>T (p.Asn436=)
n.315C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848260G>CCA405404839NPHS1c.1308C>G (p.Asn436Lys)
n.315C>G
gnomAD v4
19g.35848260G=CA2333850039NPHS1c.1308C= (p.Asn436=)
n.315C=
19g.35848260G>TCA405404833NPHS1c.1308C>A (p.Asn436Lys)
n.315C>A
gnomAD v4
19g.35848260_35848261dupCA250115NPHS1c.1307_1308dup (p.Val437ThrfsTer2)
n.314_315dup
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35848261T>ACA405404847NPHS1c.1307A>T (p.Asn436Ile)
n.314A>T
19g.35848261T>CCA405404857NPHS1c.1307A>G (p.Asn436Ser)
n.314A>G
19g.35848261T>GCA405404859NPHS1c.1307A>C (p.Asn436Thr)
n.314A>C
19g.35848262T>ACA405404864NPHS1c.1306A>T (p.Asn436Tyr)
n.313A>T
19g.35848262T>CCA405404867NPHS1c.1306A>G (p.Asn436Asp)
n.313A>G
19g.35848262T>GCA405404871NPHS1c.1306A>C (p.Asn436His)
n.313A>C
19g.35848263C>ACA507314394NPHS1c.1305G>T (p.Leu435=)
n.312G>T
19g.35848263C=CA2333850040NPHS1c.1305G= (p.Leu435=)
n.312G=
19g.35848263C>GCA507314395NPHS1c.1305G>C (p.Leu435=)
n.312G>C
19g.35848263C>TCA507314396NPHS1c.1305G>A (p.Leu435=)
n.312G>A
dbSNP
19g.35848264A>CCA405404882NPHS1c.1304T>G (p.Leu435Arg)
n.311T>G
19g.35848264A>GCA405404885NPHS1c.1304T>C (p.Leu435Pro)
n.311T>C
19g.35848264A>TCA405404888NPHS1c.1304T>A (p.Leu435Gln)
n.311T>A
19g.35848265G>ACA507314398NPHS1c.1303C>T (p.Leu435=)
n.310C>T
ClinVar
19g.35848265G>CCA405404893NPHS1c.1303C>G (p.Leu435Val)
n.310C>G
19g.35848265G>TCA405404897NPHS1c.1303C>A (p.Leu435Met)
n.310C>A
19g.35848266G>ACA507314400NPHS1c.1302C>T (p.Ile434=)
n.309C>T
19g.35848266G>CCA405404902NPHS1c.1302C>G (p.Ile434Met)
n.309C>G
19g.35848266G>TCA507314399NPHS1c.1302C>A (p.Ile434=)
n.309C>A
19g.35848267A>CCA405404914NPHS1c.1301T>G (p.Ile434Ser)
n.308T>G
19g.35848267A>GCA405404910NPHS1c.1301T>C (p.Ile434Thr)
n.308T>C
19g.35848267A>TCA405404906NPHS1c.1301T>A (p.Ile434Asn)
n.308T>A
19g.35848268T>ACA405404915NPHS1c.1300A>T (p.Ile434Phe)
n.307A>T
19g.35848268T>CCA405404916NPHS1c.1300A>G (p.Ile434Val)
n.307A>G
19g.35848268T>GCA405404917NPHS1c.1300A>C (p.Ile434Leu)
n.307A>C
19g.35848269G>ACA507314401NPHS1c.1299C>T (p.Leu433=)
n.306C>T
gnomAD v4
19g.35848269G>CCA507314402NPHS1c.1299C>G (p.Leu433=)
n.306C>G
19g.35848269G>TCA507314403NPHS1c.1299C>A (p.Leu433=)
n.306C>A
gnomAD v4
19g.35848270A>CCA405404920NPHS1c.1298T>G (p.Leu433Arg)
n.305T>G
19g.35848270A>GCA405404923NPHS1c.1298T>C (p.Leu433Pro)
n.305T>C
19g.35848270A>TCA405404926NPHS1c.1298T>A (p.Leu433His)
n.305T>A
19g.35848271G>ACA346560NPHS1c.1297C>T (p.Leu433Phe)
n.304C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848271G>CCA405404933NPHS1c.1297C>G (p.Leu433Val)
n.304C>G
19g.35848271G=CA2333850041NPHS1c.1297C= (p.Leu433=)
n.304C=
19g.35848271G>TCA405404934NPHS1c.1297C>A (p.Leu433Ile)
n.304C>A
19g.35848272C>ACA9390483NPHS1c.1296G>T (p.Ser432=)
n.303G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35848272C=CA2333850042NPHS1c.1296G= (p.Ser432=)
n.303G=
19g.35848272C>GCA307786951NPHS1c.1296G>C (p.Ser432=)
n.303G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848272C>TCA9390484NPHS1c.1296G>A (p.Ser432=)
n.303G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35848273G>ACA307786953NPHS1c.1295C>T (p.Ser432Leu)
n.302C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35848273G>CCA405404948NPHS1c.1295C>G (p.Ser432Trp)
n.302C>G
19g.35848273G=CA2333850045NPHS1c.1295C= (p.Ser432=)
n.302C=
19g.35848273G>TCA405404951NPHS1c.1295C>A (p.Ser432Ter)
n.302C>A
gnomAD v4
19g.35848274A>CCA405404958NPHS1c.1294T>G (p.Ser432Ala)
n.301T>G
19g.35848274A>GCA405404959NPHS1c.1294T>C (p.Ser432Pro)
n.301T>C
19g.35848274A>TCA405404957NPHS1c.1294T>A (p.Ser432Thr)
n.301T>A
19g.35848275C>ACA405404961NPHS1c.1293G>T (p.Lys431Asn)
n.300G>T
19g.35848275C=CA2333850050NPHS1c.1293G= (p.Lys431=)
n.300G=
19g.35848275C>GCA405404960NPHS1c.1293G>C (p.Lys431Asn)
n.300G>C
19g.35848275C>TCA507314408NPHS1c.1293G>A (p.Lys431=)
n.300G>A
ClinVar dbSNP
19g.35848276T>ACA405404965NPHS1c.1292A>T (p.Lys431Met)
n.299A>T
gnomAD v4
19g.35848276T>CCA405404968NPHS1c.1292A>G (p.Lys431Arg)
n.299A>G
19g.35848276T>GCA405404977NPHS1c.1292A>C (p.Lys431Thr)
n.299A>C
19g.35848277dupCA250114NPHS1c.1292dup (p.Ser432ValfsTer16)
n.299dup
ClinVar dbSNP
19g.35848277T>ACA405404983NPHS1c.1291A>T (p.Lys431Ter)
n.298A>T
19g.35848277T>CCA405404986NPHS1c.1291A>G (p.Lys431Glu)
n.298A>G
19g.35848277T>GCA405404994NPHS1c.1291A>C (p.Lys431Gln)
n.298A>C
19g.35848278C>ACA405404995NPHS1c.1290G>T (p.Lys430Asn)
n.297G>T
19g.35848278C=CA2333850055NPHS1c.1290G= (p.Lys430=)
n.297G=
19g.35848278C>GCA405404998NPHS1c.1290G>C (p.Lys430Asn)
n.297G>C
dbSNP gnomAD v3 gnomAD v4
19g.35848278C>TCA507314412NPHS1c.1290G>A (p.Lys430=)
n.297G>A
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=

Number of alleles fetched