Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35826582C>ACA405415116NPHS1c.3658G>T (p.Val1220Leu)
c.3538G>T (p.Val1180Leu)
19g.35826582C=CA2333840033NPHS1c.3658G= (p.Val1220=)
c.3538G= (p.Val1180=)
19g.35826582C>GCA405415117NPHS1c.3658G>C (p.Val1220Leu)
c.3538G>C (p.Val1180Leu)
19g.35826582C>TCA405415118NPHS1c.3658G>A (p.Val1220Met)
c.3538G>A (p.Val1180Met)
 dbSNP gnomAD v2 gnomAD v4
19g.35826583C>ACA307827436NPHS1c.3657G>T (p.Gln1219His)
c.3537G>T (p.Gln1179His)
 dbSNP gnomAD v4
19g.35826583C=CA2333840034NPHS1c.3657G= (p.Gln1219=)
c.3537G= (p.Gln1179=)
19g.35826583C>GCA405415119NPHS1c.3657G>C (p.Gln1219His)
c.3537G>C (p.Gln1179His)
19g.35826583C>TCA507091332NPHS1c.3657G>A (p.Gln1219=)
c.3537G>A (p.Gln1179=)
 gnomAD v4
19g.35826584delCA2584601233NPHS1c.3656del (p.Gln1219ArgfsTer18)
c.3536del (p.Gln1179ArgfsTer18)
 gnomAD v4
19g.35826584T>ACA405415120NPHS1c.3656A>T (p.Gln1219Leu)
c.3536A>T (p.Gln1179Leu)
19g.35826584T>CCA405415122NPHS1c.3656A>G (p.Gln1219Arg)
c.3536A>G (p.Gln1179Arg)
19g.35826584T>GCA405415121NPHS1c.3656A>C (p.Gln1219Pro)
c.3536A>C (p.Gln1179Pro)
19g.35826585G>ACA405415123NPHS1c.3655C>T (p.Gln1219Ter)
c.3535C>T (p.Gln1179Ter)
19g.35826585G>CCA405415124NPHS1c.3655C>G (p.Gln1219Glu)
c.3535C>G (p.Gln1179Glu)
19g.35826585G>TCA405415125NPHS1c.3655C>A (p.Gln1219Lys)
c.3535C>A (p.Gln1179Lys)
19g.35826586G>ACA9389676NPHS1c.3654C>T (p.Asp1218=)
c.3534C>T (p.Asp1178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826586G>CCA405415126NPHS1c.3654C>G (p.Asp1218Glu)
c.3534C>G (p.Asp1178Glu)
19g.35826586G=CA2333840035NPHS1c.3654C= (p.Asp1218=)
c.3534C= (p.Asp1178=)
19g.35826586G>TCA405415127NPHS1c.3654C>A (p.Asp1218Glu)
c.3534C>A (p.Asp1178Glu)
19g.35826587T>ACA405415128NPHS1c.3653A>T (p.Asp1218Val)
c.3533A>T (p.Asp1178Val)
19g.35826587T>CCA405415129NPHS1c.3653A>G (p.Asp1218Gly)
c.3533A>G (p.Asp1178Gly)
 gnomAD v4
19g.35826587T>GCA405415130NPHS1c.3653A>C (p.Asp1218Ala)
c.3533A>C (p.Asp1178Ala)
19g.35826588C>ACA405415131NPHS1c.3652G>T (p.Asp1218Tyr)
c.3532G>T (p.Asp1178Tyr)
 gnomAD v4
19g.35826588C>GCA405415132NPHS1c.3652G>C (p.Asp1218His)
c.3532G>C (p.Asp1178His)
19g.35826588C>TCA405415133NPHS1c.3652G>A (p.Asp1218Asn)
c.3532G>A (p.Asp1178Asn)
19g.35826589A=CA2333840036NPHS1c.3651T= (p.Tyr1217=)
c.3531T= (p.Tyr1177=)
19g.35826589A>CCA405415135NPHS1c.3651T>G (p.Tyr1217Ter)
c.3531T>G (p.Tyr1177Ter)
19g.35826589A>GCA507091337NPHS1c.3651T>C (p.Tyr1217=)
c.3531T>C (p.Tyr1177=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35826589A>TCA405415134NPHS1c.3651T>A (p.Tyr1217Ter)
c.3531T>A (p.Tyr1177Ter)
 gnomAD v4
19g.35826590T>ACA405415136NPHS1c.3650A>T (p.Tyr1217Phe)
c.3530A>T (p.Tyr1177Phe)
19g.35826590T>CCA405415137NPHS1c.3650A>G (p.Tyr1217Cys)
c.3530A>G (p.Tyr1177Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826590T>GCA405415138NPHS1c.3650A>C (p.Tyr1217Ser)
c.3530A>C (p.Tyr1177Ser)
19g.35826590T=CA2333840037NPHS1c.3650A= (p.Tyr1217=)
c.3530A= (p.Tyr1177=)
19g.35826591A=CA2333840038NPHS1c.3649T= (p.Tyr1217=)
c.3529T= (p.Tyr1177=)
19g.35826591A>CCA9389677NPHS1c.3649T>G (p.Tyr1217Asp)
c.3529T>G (p.Tyr1177Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826591A>GCA405415139NPHS1c.3649T>C (p.Tyr1217His)
c.3529T>C (p.Tyr1177His)
 gnomAD v4
19g.35826591A>TCA405415140NPHS1c.3649T>A (p.Tyr1217Asn)
c.3529T>A (p.Tyr1177Asn)
19g.35826592G>ACA507091338NPHS1c.3648C>T (p.Ile1216=)
c.3528C>T (p.Ile1176=)
19g.35826592G>CCA405415141NPHS1c.3648C>G (p.Ile1216Met)
c.3528C>G (p.Ile1176Met)
19g.35826592G>TCA507091339NPHS1c.3648C>A (p.Ile1216=)
c.3528C>A (p.Ile1176=)
 COSMIC
19g.35826593A>CCA405415142NPHS1c.3647T>G (p.Ile1216Ser)
c.3527T>G (p.Ile1176Ser)
19g.35826593A>GCA405415144NPHS1c.3647T>C (p.Ile1216Thr)
c.3527T>C (p.Ile1176Thr)
19g.35826593A>TCA405415143NPHS1c.3647T>A (p.Ile1216Asn)
c.3527T>A (p.Ile1176Asn)
19g.35826594T>ACA405415145NPHS1c.3646A>T (p.Ile1216Phe)
c.3526A>T (p.Ile1176Phe)
19g.35826594T>CCA405415146NPHS1c.3646A>G (p.Ile1216Val)
c.3526A>G (p.Ile1176Val)
19g.35826594T>GCA405415147NPHS1c.3646A>C (p.Ile1216Leu)
c.3526A>C (p.Ile1176Leu)
19g.35826595T>ACA9389678NPHS1c.3645A>T (p.Gly1215=)
c.3525A>T (p.Gly1175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826595T>CCA507091341NPHS1c.3645A>G (p.Gly1215=)
c.3525A>G (p.Gly1175=)
 ClinVar
19g.35826595T>GCA507091342NPHS1c.3645A>C (p.Gly1215=)
c.3525A>C (p.Gly1175=)
 gnomAD v4
19g.35826595T=CA2333840039NPHS1c.3645A= (p.Gly1215=)
c.3525A= (p.Gly1175=)
19g.35826596C>ACA405415150NPHS1c.3644G>T (p.Gly1215Val)
c.3524G>T (p.Gly1175Val)
19g.35826596C>GCA405415148NPHS1c.3644G>C (p.Gly1215Ala)
c.3524G>C (p.Gly1175Ala)
19g.35826596C>TCA405415149NPHS1c.3644G>A (p.Gly1215Glu)
c.3524G>A (p.Gly1175Glu)
19g.35826597C>ACA405415151NPHS1c.3643G>T (p.Gly1215Ter)
c.3523G>T (p.Gly1175Ter)
19g.35826597C=CA2333840040NPHS1c.3643G= (p.Gly1215=)
c.3523G= (p.Gly1175=)
19g.35826597C>GCA405415152NPHS1c.3643G>C (p.Gly1215Arg)
c.3523G>C (p.Gly1175Arg)
19g.35826597C>TCA307827442NPHS1c.3643G>A (p.Gly1215Arg)
c.3523G>A (p.Gly1175Arg)
 ClinVar dbSNP gnomAD v4
19g.35826598T>ACA405415153NPHS1c.3642A>T (p.Arg1214Ser)
c.3522A>T (p.Arg1174Ser)
19g.35826598T>CCA507091343NPHS1c.3642A>G (p.Arg1214=)
c.3522A>G (p.Arg1174=)
19g.35826598T>GCA405415154NPHS1c.3642A>C (p.Arg1214Ser)
c.3522A>C (p.Arg1174Ser)
19g.35826599C>ACA405415155NPHS1c.3641G>T (p.Arg1214Ile)
c.3521G>T (p.Arg1174Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35826599C=CA2333840041NPHS1c.3641G= (p.Arg1214=)
c.3521G= (p.Arg1174=)
19g.35826599C>GCA405415156NPHS1c.3641G>C (p.Arg1214Thr)
c.3521G>C (p.Arg1174Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.35826599C>TCA405415157NPHS1c.3641G>A (p.Arg1214Lys)
c.3521G>A (p.Arg1174Lys)
19g.35826600T>ACA405415158NPHS1c.3640A>T (p.Arg1214Ter)
c.3520A>T (p.Arg1174Ter)
19g.35826600T>CCA9389679NPHS1c.3640A>G (p.Arg1214Gly)
c.3520A>G (p.Arg1174Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826600T>GCA507091345NPHS1c.3640A>C (p.Arg1214=)
c.3520A>C (p.Arg1174=)
19g.35826600T=CA2333840042NPHS1c.3640A= (p.Arg1214=)
c.3520A= (p.Arg1174=)
19g.35826601T>ACA507091346NPHS1c.3639A>T (p.Pro1213=)
c.3519A>T (p.Pro1173=)
 ClinVar
19g.35826601T>CCA507091347NPHS1c.3639A>G (p.Pro1213=)
c.3519A>G (p.Pro1173=)
19g.35826601T>GCA507091348NPHS1c.3639A>C (p.Pro1213=)
c.3519A>C (p.Pro1173=)
19g.35826602G>ACA307827447NPHS1c.3638C>T (p.Pro1213Leu)
c.3518C>T (p.Pro1173Leu)
 dbSNP
19g.35826602G>CCA405415159NPHS1c.3638C>G (p.Pro1213Arg)
c.3518C>G (p.Pro1173Arg)
 gnomAD v4
19g.35826602G=CA2333840043NPHS1c.3638C= (p.Pro1213=)
c.3518C= (p.Pro1173=)
19g.35826602G>TCA405415160NPHS1c.3638C>A (p.Pro1213Gln)
c.3518C>A (p.Pro1173Gln)
19g.35826603G>ACA405415163NPHS1c.3637C>T (p.Pro1213Ser)
c.3517C>T (p.Pro1173Ser)
 gnomAD v4
19g.35826603G>CCA405415162NPHS1c.3637C>G (p.Pro1213Ala)
c.3517C>G (p.Pro1173Ala)
 gnomAD v4
19g.35826603G>TCA405415161NPHS1c.3637C>A (p.Pro1213Thr)
c.3517C>A (p.Pro1173Thr)
 gnomAD v4
19g.35826604A=CA2333840044NPHS1c.3636T= (p.Asp1212=)
c.3516T= (p.Asp1172=)
19g.35826604A>CCA405415164NPHS1c.3636T>G (p.Asp1212Glu)
c.3516T>G (p.Asp1172Glu)
19g.35826604A>GCA507091349NPHS1c.3636T>C (p.Asp1212=)
c.3516T>C (p.Asp1172=)
19g.35826604A>TCA307827451NPHS1c.3636T>A (p.Asp1212Glu)
c.3516T>A (p.Asp1172Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.35826605T>ACA405415165NPHS1c.3635A>T (p.Asp1212Val)
c.3515A>T (p.Asp1172Val)
19g.35826605T>CCA405415166NPHS1c.3635A>G (p.Asp1212Gly)
c.3515A>G (p.Asp1172Gly)
19g.35826605T>GCA405415167NPHS1c.3635A>C (p.Asp1212Ala)
c.3515A>C (p.Asp1172Ala)
19g.35826606C>ACA405415168NPHS1c.3634G>T (p.Asp1212Tyr)
c.3514G>T (p.Asp1172Tyr)
19g.35826606C>GCA405415169NPHS1c.3634G>C (p.Asp1212His)
c.3514G>C (p.Asp1172His)
19g.35826606C>TCA405415170NPHS1c.3634G>A (p.Asp1212Asn)
c.3514G>A (p.Asp1172Asn)
 COSMIC
19g.35826607C>ACA405415171NPHS1c.3633G>T (p.Gln1211His)
c.3513G>T (p.Gln1171His)
19g.35826607C=CA2333840045NPHS1c.3633G= (p.Gln1211=)
c.3513G= (p.Gln1171=)
19g.35826607C>GCA405415172NPHS1c.3633G>C (p.Gln1211His)
c.3513G>C (p.Gln1171His)
19g.35826607C>TCA507091350NPHS1c.3633G>A (p.Gln1211=)
c.3513G>A (p.Gln1171=)
 dbSNP gnomAD v2 gnomAD v4
19g.35826608T>ACA405415173NPHS1c.3632A>T (p.Gln1211Leu)
c.3512A>T (p.Gln1171Leu)
19g.35826608T>CCA405415174NPHS1c.3632A>G (p.Gln1211Arg)
c.3512A>G (p.Gln1171Arg)
19g.35826608T>GCA405415175NPHS1c.3632A>C (p.Gln1211Pro)
c.3512A>C (p.Gln1171Pro)
19g.35826609G>ACA405415177NPHS1c.3631C>T (p.Gln1211Ter)
c.3511C>T (p.Gln1171Ter)
19g.35826609G>CCA405415178NPHS1c.3631C>G (p.Gln1211Glu)
c.3511C>G (p.Gln1171Glu)
 dbSNP gnomAD v2
19g.35826609G=CA2333840046NPHS1c.3631C= (p.Gln1211=)
c.3511C= (p.Gln1171=)
19g.35826609G>TCA405415176NPHS1c.3631C>A (p.Gln1211Lys)
c.3511C>A (p.Gln1171Lys)
19g.35826610A=CA2333840047NPHS1c.3630T= (p.Tyr1210=)
c.3510T= (p.Tyr1170=)
19g.35826610A>CCA405415179NPHS1c.3630T>G (p.Tyr1210Ter)
c.3510T>G (p.Tyr1170Ter)
19g.35826610A>GCA507091351NPHS1c.3630T>C (p.Tyr1210=)
c.3510T>C (p.Tyr1170=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35826610A>TCA405415180NPHS1c.3630T>A (p.Tyr1210Ter)
c.3510T>A (p.Tyr1170Ter)
19g.35826611T>ACA405415181NPHS1c.3629A>T (p.Tyr1210Phe)
c.3509A>T (p.Tyr1170Phe)
19g.35826611T>CCA405415182NPHS1c.3629A>G (p.Tyr1210Cys)
c.3509A>G (p.Tyr1170Cys)
19g.35826611T>GCA9389680NPHS1c.3629A>C (p.Tyr1210Ser)
c.3509A>C (p.Tyr1170Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826611T=CA2333840048NPHS1c.3629A= (p.Tyr1210=)
c.3509A= (p.Tyr1170=)
19g.35826612A>CCA405415183NPHS1c.3628T>G (p.Tyr1210Asp)
c.3508T>G (p.Tyr1170Asp)
19g.35826612A>GCA405415184NPHS1c.3628T>C (p.Tyr1210His)
c.3508T>C (p.Tyr1170His)
 gnomAD v4
19g.35826612A>TCA405415185NPHS1c.3628T>A (p.Tyr1210Asn)
c.3508T>A (p.Tyr1170Asn)
19g.35826613T>ACA507091355NPHS1c.3627A>T (p.Thr1209=)
c.3507A>T (p.Thr1169=)
19g.35826613T>CCA9389681NPHS1c.3627A>G (p.Thr1209=)
c.3507A>G (p.Thr1169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826613T>GCA507091356NPHS1c.3627A>C (p.Thr1209=)
c.3507A>C (p.Thr1169=)
19g.35826613T=CA2333840049NPHS1c.3627A= (p.Thr1209=)
c.3507A= (p.Thr1169=)
19g.35826614G>ACA405415186NPHS1c.3626C>T (p.Thr1209Ile)
c.3506C>T (p.Thr1169Ile)
19g.35826614G>CCA405415187NPHS1c.3626C>G (p.Thr1209Arg)
c.3506C>G (p.Thr1169Arg)
19g.35826614G>TCA405415188NPHS1c.3626C>A (p.Thr1209Lys)
c.3506C>A (p.Thr1169Lys)
19g.35826614_35826618delCA913015893NPHS1c.3622_3626del (p.Asp1208IlefsTer9)
c.3502_3506del (p.Asp1168IlefsTer9)
19g.35826614_35826618delinsGTGTCCA2333840050NPHS1c.3622_3626delinsGACAC (p.Asp1208=)
c.3502_3506delinsGACAC (p.Asp1168=)
19g.35826615T>ACA9389682NPHS1c.3625A>T (p.Thr1209Ser)
c.3505A>T (p.Thr1169Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826615T>CCA9389683NPHS1c.3625A>G (p.Thr1209Ala)
c.3505A>G (p.Thr1169Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826615T>GCA405415189NPHS1c.3625A>C (p.Thr1209Pro)
c.3505A>C (p.Thr1169Pro)
19g.35826615T=CA2333840051NPHS1c.3625A= (p.Thr1209=)
c.3505A= (p.Thr1169=)
19g.35826616_35826619delCA632775038NPHS1c.3622_3625del (p.Asp1208HisfsTer28)
c.3502_3505del (p.Asp1168HisfsTer28)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826616G>ACA507091357NPHS1c.3624C>T (p.Asp1208=)
c.3504C>T (p.Asp1168=)
19g.35826616G>CCA405415190NPHS1c.3624C>G (p.Asp1208Glu)
c.3504C>G (p.Asp1168Glu)
19g.35826616G>TCA405415191NPHS1c.3624C>A (p.Asp1208Glu)
c.3504C>A (p.Asp1168Glu)
19g.35826617T>ACA405415192NPHS1c.3623A>T (p.Asp1208Val)
c.3503A>T (p.Asp1168Val)
19g.35826617T>CCA405415193NPHS1c.3623A>G (p.Asp1208Gly)
c.3503A>G (p.Asp1168Gly)
19g.35826617T>GCA405415194NPHS1c.3623A>C (p.Asp1208Ala)
c.3503A>C (p.Asp1168Ala)
19g.35826618C>ACA405415195NPHS1c.3622G>T (p.Asp1208Tyr)
c.3502G>T (p.Asp1168Tyr)
 COSMIC
19g.35826618C>GCA405415196NPHS1c.3622G>C (p.Asp1208His)
c.3502G>C (p.Asp1168His)
19g.35826618C>TCA405415197NPHS1c.3622G>A (p.Asp1208Asn)
c.3502G>A (p.Asp1168Asn)
19g.35826619T>ACA405415198NPHS1c.3621A>T (p.Glu1207Asp)
c.3501A>T (p.Glu1167Asp)
 gnomAD v4
19g.35826619T>CCA507091359NPHS1c.3621A>G (p.Glu1207=)
c.3501A>G (p.Glu1167=)
19g.35826619T>GCA405415199NPHS1c.3621A>C (p.Glu1207Asp)
c.3501A>C (p.Glu1167Asp)
19g.35826620T>ACA405415200NPHS1c.3620A>T (p.Glu1207Val)
c.3500A>T (p.Glu1167Val)
19g.35826620T>CCA405415201NPHS1c.3620A>G (p.Glu1207Gly)
c.3500A>G (p.Glu1167Gly)
19g.35826620T>GCA405415202NPHS1c.3620A>C (p.Glu1207Ala)
c.3500A>C (p.Glu1167Ala)
19g.35826620_35826621delCA913015894NPHS1c.3619_3620del (p.Glu1207ArgfsTer11)
c.3499_3500del (p.Glu1167ArgfsTer11)
19g.35826620_35826621delinsTCCA2333840052NPHS1c.3619_3620delinsGA (p.Glu1207=)
c.3499_3500delinsGA (p.Glu1167=)
19g.35826621delCA632775039NPHS1c.3619del (p.Glu1207LysfsTer30)
c.3499del (p.Glu1167LysfsTer30)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35826621C>ACA405415204NPHS1c.3619G>T (p.Glu1207Ter)
c.3499G>T (p.Glu1167Ter)
 COSMIC
19g.35826621C>GCA405415205NPHS1c.3619G>C (p.Glu1207Gln)
c.3499G>C (p.Glu1167Gln)
19g.35826621C>TCA405415203NPHS1c.3619G>A (p.Glu1207Lys)
c.3499G>A (p.Glu1167Lys)
19g.35826622A>CCA507091360NPHS1c.3618T>G (p.Pro1206=)
c.3498T>G (p.Pro1166=)
19g.35826622A>GCA507091362NPHS1c.3618T>C (p.Pro1206=)
c.3498T>C (p.Pro1166=)
19g.35826622A>TCA507091361NPHS1c.3618T>A (p.Pro1206=)
c.3498T>A (p.Pro1166=)
19g.35826623G>ACA405415206NPHS1c.3617C>T (p.Pro1206Leu)
c.3497C>T (p.Pro1166Leu)
19g.35826623G>CCA405415207NPHS1c.3617C>G (p.Pro1206Arg)
c.3497C>G (p.Pro1166Arg)
19g.35826623G>TCA405415208NPHS1c.3617C>A (p.Pro1206His)
c.3497C>A (p.Pro1166His)
19g.35826624G>ACA405415209NPHS1c.3616C>T (p.Pro1206Ser)
c.3496C>T (p.Pro1166Ser)
19g.35826624G>CCA405415210NPHS1c.3616C>G (p.Pro1206Ala)
c.3496C>G (p.Pro1166Ala)
19g.35826624G>TCA405415211NPHS1c.3616C>A (p.Pro1206Thr)
c.3496C>A (p.Pro1166Thr)
19g.35826625C>ACA405415212NPHS1c.3615G>T (p.Trp1205Cys)
c.3495G>T (p.Trp1165Cys)
19g.35826625C>GCA405415213NPHS1c.3615G>C (p.Trp1205Cys)
c.3495G>C (p.Trp1165Cys)
19g.35826625C>TCA405415214NPHS1c.3615G>A (p.Trp1205Ter)
c.3495G>A (p.Trp1165Ter)
 COSMIC
19g.35826626C>ACA405415215NPHS1c.3614G>T (p.Trp1205Leu)
c.3494G>T (p.Trp1165Leu)
19g.35826626C>GCA405415216NPHS1c.3614G>C (p.Trp1205Ser)
c.3494G>C (p.Trp1165Ser)
19g.35826626C>TCA405415217NPHS1c.3614G>A (p.Trp1205Ter)
c.3494G>A (p.Trp1165Ter)
19g.35826626_35826627delCA913015895NPHS1c.3613_3614del (p.Trp1205AlafsTer2)
c.3493_3494del (p.Trp1165AlafsTer2)
19g.35826626_35826627delinsCACA2333839478NPHS1c.3613_3614delinsTG (p.Trp1205=)
c.3493_3494delinsTG (p.Trp1165=)
19g.35826627delCA658824407NPHS1c.3613del (p.Trp1205GlyfsTer?)
c.3493del (p.Trp1165GlyfsTer?)
 ClinVar dbSNP
19g.35826627A>CCA405415219NPHS1c.3613T>G (p.Trp1205Gly)
c.3493T>G (p.Trp1165Gly)
19g.35826627A>GCA405415220NPHS1c.3613T>C (p.Trp1205Arg)
c.3493T>C (p.Trp1165Arg)
19g.35826627A>TCA405415218NPHS1c.3613T>A (p.Trp1205Arg)
c.3493T>A (p.Trp1165Arg)
19g.35826628G>ACA507091363NPHS1c.3612C>T (p.His1204=)
c.3492C>T (p.His1164=)
19g.35826628G>CCA405415221NPHS1c.3612C>G (p.His1204Gln)
c.3492C>G (p.His1164Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826628G=CA2333839480NPHS1c.3612C= (p.His1204=)
c.3492C= (p.His1164=)
19g.35826628G>TCA405415222NPHS1c.3612C>A (p.His1204Gln)
c.3492C>A (p.His1164Gln)
19g.35826629T>ACA405415223NPHS1c.3611A>T (p.His1204Leu)
c.3491A>T (p.His1164Leu)
 gnomAD v4
19g.35826629T>CCA9389684NPHS1c.3611A>G (p.His1204Arg)
c.3491A>G (p.His1164Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826629T>GCA405415224NPHS1c.3611A>C (p.His1204Pro)
c.3491A>C (p.His1164Pro)
19g.35826629T=CA2333839481NPHS1c.3611A= (p.His1204=)
c.3491A= (p.His1164=)
19g.35826630G>ACA405415227NPHS1c.3610C>T (p.His1204Tyr)
c.3490C>T (p.His1164Tyr)
19g.35826630G>CCA405415225NPHS1c.3610C>G (p.His1204Asp)
c.3490C>G (p.His1164Asp)
19g.35826630G>TCA405415226NPHS1c.3610C>A (p.His1204Asn)
c.3490C>A (p.His1164Asn)
19g.35826631G>ACA507091366NPHS1c.3609C>T (p.Leu1203=)
c.3489C>T (p.Leu1163=)
19g.35826631G>CCA507091364NPHS1c.3609C>G (p.Leu1203=)
c.3489C>G (p.Leu1163=)
19g.35826631G>TCA507091365NPHS1c.3609C>A (p.Leu1203=)
c.3489C>A (p.Leu1163=)
19g.35826632A>CCA405415228NPHS1c.3608T>G (p.Leu1203Arg)
c.3488T>G (p.Leu1163Arg)
19g.35826632A>GCA405415229NPHS1c.3608T>C (p.Leu1203Pro)
c.3488T>C (p.Leu1163Pro)
19g.35826632A>TCA405415230NPHS1c.3608T>A (p.Leu1203His)
c.3488T>A (p.Leu1163His)
19g.35826633G>ACA405415231NPHS1c.3607C>T (p.Leu1203Phe)
c.3487C>T (p.Leu1163Phe)
 gnomAD v4
19g.35826633G>CCA405415232NPHS1c.3607C>G (p.Leu1203Val)
c.3487C>G (p.Leu1163Val)
19g.35826633G>TCA405415233NPHS1c.3607C>A (p.Leu1203Ile)
c.3487C>A (p.Leu1163Ile)
19g.35826639_35826646delCA2695198172NPHS1c.3600_3607del
c.3480_3487del
 ClinVar
19g.35826634G>ACA507091367NPHS1c.3606C>T (p.Asp1202=)
c.3486C>T (p.Asp1162=)
19g.35826634G>CCA405415235NPHS1c.3606C>G (p.Asp1202Glu)
c.3486C>G (p.Asp1162Glu)
19g.35826634G>TCA405415234NPHS1c.3606C>A (p.Asp1202Glu)
c.3486C>A (p.Asp1162Glu)
19g.35826635T>ACA405415236NPHS1c.3605A>T (p.Asp1202Val)
c.3485A>T (p.Asp1162Val)
19g.35826635T>CCA405415238NPHS1c.3605A>G (p.Asp1202Gly)
c.3485A>G (p.Asp1162Gly)
19g.35826635T>GCA405415237NPHS1c.3605A>C (p.Asp1202Ala)
c.3485A>C (p.Asp1162Ala)
19g.35826636C>ACA405415239NPHS1c.3604G>T (p.Asp1202Tyr)
c.3484G>T (p.Asp1162Tyr)
19g.35826636C>GCA405415241NPHS1c.3604G>C (p.Asp1202His)
c.3484G>C (p.Asp1162His)
19g.35826636C>TCA405415240NPHS1c.3604G>A (p.Asp1202Asn)
c.3484G>A (p.Asp1162Asn)
 gnomAD v4 COSMIC
19g.35826637C>ACA405415242NPHS1c.3603G>T (p.Trp1201Cys)
c.3483G>T (p.Trp1161Cys)
19g.35826637C>GCA405415244NPHS1c.3603G>C (p.Trp1201Cys)
c.3483G>C (p.Trp1161Cys)
19g.35826637C>TCA405415243NPHS1c.3603G>A (p.Trp1201Ter)
c.3483G>A (p.Trp1161Ter)
19g.35826638C>ACA405415245NPHS1c.3602G>T (p.Trp1201Leu)
c.3482G>T (p.Trp1161Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.35826638C=CA2333839482NPHS1c.3602G= (p.Trp1201=)
c.3482G= (p.Trp1161=)
19g.35826638C>GCA405415247NPHS1c.3602G>C (p.Trp1201Ser)
c.3482G>C (p.Trp1161Ser)
19g.35826638C>TCA405415246NPHS1c.3602G>A (p.Trp1201Ter)
c.3482G>A (p.Trp1161Ter)
19g.35826639A>CCA405415248NPHS1c.3601T>G (p.Trp1201Gly)
c.3481T>G (p.Trp1161Gly)
19g.35826639A>GCA405415249NPHS1c.3601T>C (p.Trp1201Arg)
c.3481T>C (p.Trp1161Arg)
 gnomAD v4
19g.35826639A>TCA405415250NPHS1c.3601T>A (p.Trp1201Arg)
c.3481T>A (p.Trp1161Arg)
19g.35826640G>ACA507091368NPHS1c.3600C>T (p.Pro1200=)
c.3480C>T (p.Pro1160=)
19g.35826640G>CCA507091369NPHS1c.3600C>G (p.Pro1200=)
c.3480C>G (p.Pro1160=)
 dbSNP gnomAD v3 gnomAD v4
19g.35826640G=CA2333839483NPHS1c.3600C= (p.Pro1200=)
c.3480C= (p.Pro1160=)
19g.35826640G>TCA507091370NPHS1c.3600C>A (p.Pro1200=)
c.3480C>A (p.Pro1160=)
19g.35826641G>ACA405415251NPHS1c.3599C>T (p.Pro1200Leu)
c.3479C>T (p.Pro1160Leu)
19g.35826641G>CCA9389686NPHS1c.3599C>G (p.Pro1200Arg)
c.3479C>G (p.Pro1160Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826641G=CA2333839485NPHS1c.3599C= (p.Pro1200=)
c.3479C= (p.Pro1160=)
19g.35826641G>TCA9389685NPHS1c.3599C>A (p.Pro1200His)
c.3479C>A (p.Pro1160His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826642G>ACA9389687NPHS1c.3598C>T (p.Pro1200Ser)
c.3478C>T (p.Pro1160Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826642G>CCA405415252NPHS1c.3598C>G (p.Pro1200Ala)
c.3478C>G (p.Pro1160Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826642G=CA2333839494NPHS1c.3598C= (p.Pro1200=)
c.3478C= (p.Pro1160=)
19g.35826642G>TCA405415253NPHS1c.3598C>A (p.Pro1200Thr)
c.3478C>A (p.Pro1160Thr)
19g.35826643T>ACA507091371NPHS1c.3597A>T (p.Gly1199=)
c.3477A>T (p.Gly1159=)
19g.35826643T>CCA507091372NPHS1c.3597A>G (p.Gly1199=)
c.3477A>G (p.Gly1159=)
19g.35826643T>GCA507091373NPHS1c.3597A>C (p.Gly1199=)
c.3477A>C (p.Gly1159=)
 dbSNP
19g.35826644C>ACA405415254NPHS1c.3596G>T (p.Gly1199Val)
c.3476G>T (p.Gly1159Val)
19g.35826644C=CA2333839498NPHS1c.3596G= (p.Gly1199=)
c.3476G= (p.Gly1159=)
19g.35826644C>GCA9389688NPHS1c.3596G>C (p.Gly1199Ala)
c.3476G>C (p.Gly1159Ala)
 dbSNP ExAC gnomAD v2
19g.35826644C>TCA405415255NPHS1c.3596G>A (p.Gly1199Glu)
c.3476G>A (p.Gly1159Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.35826645C>ACA405415258NPHS1c.3595G>T (p.Gly1199Ter)
c.3475G>T (p.Gly1159Ter)
19g.35826645C>GCA405415256NPHS1c.3595G>C (p.Gly1199Arg)
c.3475G>C (p.Gly1159Arg)
19g.35826645C>TCA405415257NPHS1c.3595G>A (p.Gly1199Arg)
c.3475G>A (p.Gly1159Arg)
 gnomAD v4
19g.35826646C>ACA405415259NPHS1c.3595-1G>T (n.3595-1G>T)
c.3475-1G>T (n.3475-1G>T)
19g.35826646C>GCA405415260NPHS1c.3595-1G>C (n.3595-1G>C)
c.3475-1G>C (n.3475-1G>C)
19g.35826646C>TCA405415261NPHS1c.3595-1G>A (n.3595-1G>A)
c.3475-1G>A (n.3475-1G>A)
 COSMIC
19g.35826646_35826647insATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTCA2814253202NPHS1c.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT)
c.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT)
19g.35826647T>ACA405415262NPHS1c.3595-2A>T (n.3595-2A>T)
c.3475-2A>T (n.3475-2A>T)
19g.35826647T>CCA250234NPHS1c.3595-2A>G (n.3595-2A>G)
c.3475-2A>G (n.3475-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826647T>GCA405415263NPHS1c.3595-2A>C (n.3595-2A>C)
c.3475-2A>C (n.3475-2A>C)
19g.35826647T=CA2333839500NPHS1c.3595-2A= (n.3595-2A=)
c.3475-2A= (n.3475-2A=)
19g.35826647dupCA2584601234NPHS1c.3595-2dup (n.3595-2dup)
c.3475-2dup (n.3475-2dup)
 gnomAD v4
19g.35826648G>ACA2584601235NPHS1c.3595-3C>T (n.3595-3C>T)
c.3475-3C>T (n.3475-3C>T)
 gnomAD v4
19g.35826648G>CCA2814253209NPHS1c.3595-3C>G (n.3595-3C>G)
c.3475-3C>G (n.3475-3C>G)
19g.35826649A=CA2333839502NPHS1c.3595-4T= (n.3595-4T=)
c.3475-4T= (n.3475-4T=)
19g.35826649A>TCA9389689NPHS1c.3595-4T>A (n.3595-4T>A)
c.3475-4T>A (n.3475-4T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826650C>ACA995489143NPHS1c.3595-5G>T (n.3595-5G>T)
c.3475-5G>T (n.3475-5G>T)
 gnomAD v3 gnomAD v4
19g.35826650C=CA2333839505NPHS1c.3595-5G= (n.3595-5G=)
c.3475-5G= (n.3475-5G=)
19g.35826650C>TCA632775040NPHS1c.3595-5G>A (n.3595-5G>A)
c.3475-5G>A (n.3475-5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35826650_35826651delinsCACA2333839504NPHS1c.3595-6_3595-5delinsTG (n.3595-6_3595-5delinsTG)
c.3475-6_3475-5delinsTG (n.3475-6_3475-5delinsTG)
19g.35826651delCA2333839507NPHS1c.3595-6del (n.3595-6del)
c.3475-6del (n.3475-6del)
 dbSNP
19g.35826652G>ACA2580096846NPHS1c.3595-7C>T (n.3595-7C>T)
c.3475-7C>T (n.3475-7C>T)
 ClinVar gnomAD v4
19g.35826652_35826654delCA995489177NPHS1c.3595-9_3595-7del (n.3595-9_3595-7del)
c.3475-9_3475-7del (n.3475-9_3475-7del)
 gnomAD v3 gnomAD v4
19g.35826653G>ACA2573156254NPHS1c.3595-8C>T (n.3595-8C>T)
c.3475-8C>T (n.3475-8C>T)
 ClinVar dbSNP
19g.35826654C>ACA9389690NPHS1c.3595-9G>T (n.3595-9G>T)
c.3475-9G>T (n.3475-9G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826654C=CA2333839510NPHS1c.3595-9G= (n.3595-9G=)
c.3475-9G= (n.3475-9G=)
19g.35826654C>GCA881817108NPHS1c.3595-9G>C (n.3595-9G>C)
c.3475-9G>C (n.3475-9G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.35826654_35826655delinsCACA2333839512NPHS1c.3595-10_3595-9delinsTG (n.3595-10_3595-9delinsTG)
c.3475-10_3475-9delinsTG (n.3475-10_3475-9delinsTG)
19g.35826659delCA632775041NPHS1c.3595-10del (n.3595-10del)
c.3475-10del (n.3475-10del)
 dbSNP gnomAD v2 gnomAD v4
19g.35826657A=CA2333839515NPHS1c.3595-12T= (n.3595-12T=)
c.3475-12T= (n.3475-12T=)
19g.35826657A>GCA9389691NPHS1c.3595-12T>C (n.3595-12T>C)
c.3475-12T>C (n.3475-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826659A>GCA2697556461NPHS1c.3595-14T>C (n.3595-14T>C)
c.3475-14T>C (n.3475-14T>C)
 ClinVar
19g.35826660G>TCA2584601236NPHS1c.3595-15C>A (n.3595-15C>A)
c.3475-15C>A (n.3475-15C>A)
 gnomAD v4
19g.35826665G>ACA307827469NPHS1c.3595-20C>T (n.3595-20C>T)
c.3475-20C>T (n.3475-20C>T)
 dbSNP gnomAD v4
19g.35826665G=CA2333839517NPHS1c.3595-20C= (n.3595-20C=)
c.3475-20C= (n.3475-20C=)
19g.35826668A=CA2333839520NPHS1c.3595-23T= (n.3595-23T=)
c.3475-23T= (n.3475-23T=)
19g.35826668A>CCA632775042NPHS1c.3595-23T>G (n.3595-23T>G)
c.3475-23T>G (n.3475-23T>G)
 dbSNP gnomAD v2 gnomAD v4
19g.35826668A>GCA9389692NPHS1c.3595-23T>C (n.3595-23T>C)
c.3475-23T>C (n.3475-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826669G>CCA307827473NPHS1c.3595-24C>G (n.3595-24C>G)
c.3475-24C>G (n.3475-24C>G)
 dbSNP
19g.35826669G=CA2333839522NPHS1c.3595-24C= (n.3595-24C=)
c.3475-24C= (n.3475-24C=)
19g.35826672C>ACA2584601237NPHS1c.3595-27G>T (n.3595-27G>T)
c.3475-27G>T (n.3475-27G>T)
 gnomAD v4
19g.35826672C=CA2333839525NPHS1c.3595-27G= (n.3595-27G=)
c.3475-27G= (n.3475-27G=)
19g.35826672C>GCA9389693NPHS1c.3595-27G>C (n.3595-27G>C)
c.3475-27G>C (n.3475-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826673C>ACA9389694NPHS1c.3595-28G>T (n.3595-28G>T)
c.3475-28G>T (n.3475-28G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826673C=CA2333839529NPHS1c.3595-28G= (n.3595-28G=)
c.3475-28G= (n.3475-28G=)
19g.35826674A=CA2333839531NPHS1c.3595-29T= (n.3595-29T=)
c.3475-29T= (n.3475-29T=)
19g.35826674A>GCA2333839532NPHS1c.3595-29T>C (n.3595-29T>C)
c.3475-29T>C (n.3475-29T>C)
 dbSNP
19g.35826675T>CCA2584601238NPHS1c.3595-30A>G (n.3595-30A>G)
c.3475-30A>G (n.3475-30A>G)
 gnomAD v4
19g.35826677G>ACA2576758564NPHS1c.3595-32C>T (n.3595-32C>T)
c.3475-32C>T (n.3475-32C>T)
 gnomAD v4
19g.35826678A>GCA2814253216NPHS1c.3595-33T>C (n.3595-33T>C)
c.3475-33T>C (n.3475-33T>C)
19g.35826681G>ACA2581381833NPHS1c.3595-36C>T (n.3595-36C>T)
c.3475-36C>T (n.3475-36C>T)
 gnomAD v4
19g.35826681G>CCA9389695NPHS1c.3595-36C>G (n.3595-36C>G)
c.3475-36C>G (n.3475-36C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826681G=CA2333839534NPHS1c.3595-36C= (n.3595-36C=)
c.3475-36C= (n.3475-36C=)
19g.35826681G>TCA2581381832NPHS1c.3595-36C>A (n.3595-36C>A)
c.3475-36C>A (n.3475-36C>A)
19g.35826682A=CA2333839537NPHS1c.3595-37T= (n.3595-37T=)
c.3475-37T= (n.3475-37T=)
19g.35826682A>GCA9389696NPHS1c.3595-37T>C (n.3595-37T>C)
c.3475-37T>C (n.3475-37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826682A>TCA2584601239NPHS1c.3595-37T>A (n.3595-37T>A)
c.3475-37T>A (n.3475-37T>A)
 gnomAD v4

Number of alleles fetched