Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35826558C>A | CA405415068 | NPHS1 | c.3682G>T (p.Glu1228Ter) c.3562G>T (p.Glu1188Ter) | COSMIC |
19 | g.35826558C= | CA2333840021 | NPHS1 | c.3682G= (p.Glu1228=) c.3562G= (p.Glu1188=) | |
19 | g.35826558C>G | CA9389671 | NPHS1 | c.3682G>C (p.Glu1228Gln) c.3562G>C (p.Glu1188Gln) | dbSNP ExAC gnomAD v2 |
19 | g.35826558C>T | CA405415069 | NPHS1 | c.3682G>A (p.Glu1228Lys) c.3562G>A (p.Glu1188Lys) | COSMIC |
19 | g.35826559C>A | CA507091303 | NPHS1 | c.3681G>T (p.Leu1227=) c.3561G>T (p.Leu1187=) | |
19 | g.35826559C>G | CA507091304 | NPHS1 | c.3681G>C (p.Leu1227=) c.3561G>C (p.Leu1187=) | |
19 | g.35826559C>T | CA507091305 | NPHS1 | c.3681G>A (p.Leu1227=) c.3561G>A (p.Leu1187=) | |
19 | g.35826560A>C | CA405415070 | NPHS1 | c.3680T>G (p.Leu1227Arg) c.3560T>G (p.Leu1187Arg) | |
19 | g.35826560A>G | CA405415071 | NPHS1 | c.3680T>C (p.Leu1227Pro) c.3560T>C (p.Leu1187Pro) | |
19 | g.35826560A>T | CA405415072 | NPHS1 | c.3680T>A (p.Leu1227Gln) c.3560T>A (p.Leu1187Gln) | |
19 | g.35826561G>A | CA507091306 | NPHS1 | c.3679C>T (p.Leu1227=) c.3559C>T (p.Leu1187=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826561G>C | CA9389672 | NPHS1 | c.3679C>G (p.Leu1227Val) c.3559C>G (p.Leu1187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826561G= | CA2333840022 | NPHS1 | c.3679C= (p.Leu1227=) c.3559C= (p.Leu1187=) | |
19 | g.35826561G>T | CA405415073 | NPHS1 | c.3679C>A (p.Leu1227Met) c.3559C>A (p.Leu1187Met) | |
19 | g.35826562A= | CA2333840023 | NPHS1 | c.3678T= (p.Thr1226=) c.3558T= (p.Thr1186=) | |
19 | g.35826562A>C | CA507091307 | NPHS1 | c.3678T>G (p.Thr1226=) c.3558T>G (p.Thr1186=) | |
19 | g.35826562A>G | CA507091308 | NPHS1 | c.3678T>C (p.Thr1226=) c.3558T>C (p.Thr1186=) | ClinVar dbSNP |
19 | g.35826562A>T | CA507091309 | NPHS1 | c.3678T>A (p.Thr1226=) c.3558T>A (p.Thr1186=) | |
19 | g.35826563G>A | CA405415075 | NPHS1 | c.3677C>T (p.Thr1226Ile) c.3557C>T (p.Thr1186Ile) | |
19 | g.35826563G>C | CA405415076 | NPHS1 | c.3677C>G (p.Thr1226Ser) c.3557C>G (p.Thr1186Ser) | |
19 | g.35826563G>T | CA405415074 | NPHS1 | c.3677C>A (p.Thr1226Asn) c.3557C>A (p.Thr1186Asn) | |
19 | g.35826564T>A | CA405415077 | NPHS1 | c.3676A>T (p.Thr1226Ser) c.3556A>T (p.Thr1186Ser) | |
19 | g.35826564T>C | CA405415078 | NPHS1 | c.3676A>G (p.Thr1226Ala) c.3556A>G (p.Thr1186Ala) | |
19 | g.35826564T>G | CA405415079 | NPHS1 | c.3676A>C (p.Thr1226Pro) c.3556A>C (p.Thr1186Pro) | |
19 | g.35826565del | CA2584601232 | NPHS1 | c.3675del (p.Asp1225GlufsTer12) c.3555del (p.Asp1185GlufsTer12) | gnomAD v4 |
19 | g.35826565G>A | CA507091311 | NPHS1 | c.3675C>T (p.Asp1225=) c.3555C>T (p.Asp1185=) | dbSNP gnomAD v4 |
19 | g.35826565G>C | CA405415080 | NPHS1 | c.3675C>G (p.Asp1225Glu) c.3555C>G (p.Asp1185Glu) | |
19 | g.35826565G= | CA2333840024 | NPHS1 | c.3675C= (p.Asp1225=) c.3555C= (p.Asp1185=) | |
19 | g.35826565G>T | CA405415081 | NPHS1 | c.3675C>A (p.Asp1225Glu) c.3555C>A (p.Asp1185Glu) | |
19 | g.35826566T>A | CA405415084 | NPHS1 | c.3674A>T (p.Asp1225Val) c.3554A>T (p.Asp1185Val) | |
19 | g.35826566T>C | CA405415082 | NPHS1 | c.3674A>G (p.Asp1225Gly) c.3554A>G (p.Asp1185Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826566T>G | CA405415083 | NPHS1 | c.3674A>C (p.Asp1225Ala) c.3554A>C (p.Asp1185Ala) | |
19 | g.35826566T= | CA2333840025 | NPHS1 | c.3674A= (p.Asp1225=) c.3554A= (p.Asp1185=) | |
19 | g.35826567C>A | CA405415085 | NPHS1 | c.3673G>T (p.Asp1225Tyr) c.3553G>T (p.Asp1185Tyr) | |
19 | g.35826567C>G | CA405415086 | NPHS1 | c.3673G>C (p.Asp1225His) c.3553G>C (p.Asp1185His) | |
19 | g.35826567C>T | CA405415087 | NPHS1 | c.3673G>A (p.Asp1225Asn) c.3553G>A (p.Asp1185Asn) | gnomAD v4 |
19 | g.35826568C>A | CA405415088 | NPHS1 | c.3672G>T (p.Leu1224Phe) c.3552G>T (p.Leu1184Phe) | |
19 | g.35826568C= | CA2333840026 | NPHS1 | c.3672G= (p.Leu1224=) c.3552G= (p.Leu1184=) | |
19 | g.35826568C>G | CA405415089 | NPHS1 | c.3672G>C (p.Leu1224Phe) c.3552G>C (p.Leu1184Phe) | dbSNP |
19 | g.35826568C>T | CA507091314 | NPHS1 | c.3672G>A (p.Leu1224=) c.3552G>A (p.Leu1184=) | |
19 | g.35826569A>C | CA405415092 | NPHS1 | c.3671T>G (p.Leu1224Trp) c.3551T>G (p.Leu1184Trp) | |
19 | g.35826569A>G | CA405415091 | NPHS1 | c.3671T>C (p.Leu1224Ser) c.3551T>C (p.Leu1184Ser) | |
19 | g.35826569A>T | CA405415090 | NPHS1 | c.3671T>A (p.Leu1224Ter) c.3551T>A (p.Leu1184Ter) | |
19 | g.35826570A>C | CA405415093 | NPHS1 | c.3670T>G (p.Leu1224Val) c.3550T>G (p.Leu1184Val) | |
19 | g.35826570A>G | CA507091317 | NPHS1 | c.3670T>C (p.Leu1224=) c.3550T>C (p.Leu1184=) | ClinVar gnomAD v4 |
19 | g.35826570A>T | CA405415094 | NPHS1 | c.3670T>A (p.Leu1224Met) c.3550T>A (p.Leu1184Met) | |
19 | g.35826571G>A | CA507091318 | NPHS1 | c.3669C>T (p.Asp1223=) c.3549C>T (p.Asp1183=) | |
19 | g.35826571G>C | CA405415095 | NPHS1 | c.3669C>G (p.Asp1223Glu) c.3549C>G (p.Asp1183Glu) | |
19 | g.35826571G>T | CA405415096 | NPHS1 | c.3669C>A (p.Asp1223Glu) c.3549C>A (p.Asp1183Glu) | gnomAD v4 |
19 | g.35826572T>A | CA405415097 | NPHS1 | c.3668A>T (p.Asp1223Val) c.3548A>T (p.Asp1183Val) | gnomAD v4 |
19 | g.35826572T>C | CA405415098 | NPHS1 | c.3668A>G (p.Asp1223Gly) c.3548A>G (p.Asp1183Gly) | |
19 | g.35826572T>G | CA405415099 | NPHS1 | c.3668A>C (p.Asp1223Ala) c.3548A>C (p.Asp1183Ala) | |
19 | g.35826573C>A | CA405415100 | NPHS1 | c.3667G>T (p.Asp1223Tyr) c.3547G>T (p.Asp1183Tyr) | |
19 | g.35826573C= | CA2333840027 | NPHS1 | c.3667G= (p.Asp1223=) c.3547G= (p.Asp1183=) | |
19 | g.35826573C>G | CA405415101 | NPHS1 | c.3667G>C (p.Asp1223His) c.3547G>C (p.Asp1183His) | gnomAD v4 |
19 | g.35826573C>T | CA405415102 | NPHS1 | c.3667G>A (p.Asp1223Asn) c.3547G>A (p.Asp1183Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826574T>A | CA507091319 | NPHS1 | c.3666A>T (p.Gly1222=) c.3546A>T (p.Gly1182=) | |
19 | g.35826574T>C | CA507091321 | NPHS1 | c.3666A>G (p.Gly1222=) c.3546A>G (p.Gly1182=) | |
19 | g.35826574T>G | CA507091323 | NPHS1 | c.3666A>C (p.Gly1222=) c.3546A>C (p.Gly1182=) | gnomAD v4 |
19 | g.35826575C>A | CA405415103 | NPHS1 | c.3665G>T (p.Gly1222Val) c.3545G>T (p.Gly1182Val) | |
19 | g.35826575C= | CA2333840028 | NPHS1 | c.3665G= (p.Gly1222=) c.3545G= (p.Gly1182=) | |
19 | g.35826575C>G | CA405415104 | NPHS1 | c.3665G>C (p.Gly1222Ala) c.3545G>C (p.Gly1182Ala) | |
19 | g.35826575C>T | CA9389673 | NPHS1 | c.3665G>A (p.Gly1222Glu) c.3545G>A (p.Gly1182Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35826576C>A | CA405415106 | NPHS1 | c.3664G>T (p.Gly1222Ter) c.3544G>T (p.Gly1182Ter) | |
19 | g.35826576C= | CA2333840029 | NPHS1 | c.3664G= (p.Gly1222=) c.3544G= (p.Gly1182=) | |
19 | g.35826576C>G | CA405415105 | NPHS1 | c.3664G>C (p.Gly1222Arg) c.3544G>C (p.Gly1182Arg) | |
19 | g.35826576C>T | CA9389674 | NPHS1 | c.3664G>A (p.Gly1222Arg) c.3544G>A (p.Gly1182Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826577G>A | CA9389675 | NPHS1 | c.3663C>T (p.Ala1221=) c.3543C>T (p.Ala1181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826577G>C | CA507091326 | NPHS1 | c.3663C>G (p.Ala1221=) c.3543C>G (p.Ala1181=) | COSMIC |
19 | g.35826577G= | CA2333840030 | NPHS1 | c.3663C= (p.Ala1221=) c.3543C= (p.Ala1181=) | |
19 | g.35826577G>T | CA507091325 | NPHS1 | c.3663C>A (p.Ala1221=) c.3543C>A (p.Ala1181=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826578G>A | CA405415107 | NPHS1 | c.3662C>T (p.Ala1221Val) c.3542C>T (p.Ala1181Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.35826578G>C | CA405415108 | NPHS1 | c.3662C>G (p.Ala1221Gly) c.3542C>G (p.Ala1181Gly) | |
19 | g.35826578G= | CA2333840031 | NPHS1 | c.3662C= (p.Ala1221=) c.3542C= (p.Ala1181=) | |
19 | g.35826578G>T | CA405415109 | NPHS1 | c.3662C>A (p.Ala1221Asp) c.3542C>A (p.Ala1181Asp) | |
19 | g.35826579C>A | CA405415110 | NPHS1 | c.3661G>T (p.Ala1221Ser) c.3541G>T (p.Ala1181Ser) | |
19 | g.35826579C>G | CA405415111 | NPHS1 | c.3661G>C (p.Ala1221Pro) c.3541G>C (p.Ala1181Pro) | |
19 | g.35826579C>T | CA405415112 | NPHS1 | c.3661G>A (p.Ala1221Thr) c.3541G>A (p.Ala1181Thr) | gnomAD v4 |
19 | g.35826580C>A | CA507091329 | NPHS1 | c.3660G>T (p.Val1220=) c.3540G>T (p.Val1180=) | |
19 | g.35826580C= | CA2333840032 | NPHS1 | c.3660G= (p.Val1220=) c.3540G= (p.Val1180=) | |
19 | g.35826580C>G | CA507091330 | NPHS1 | c.3660G>C (p.Val1220=) c.3540G>C (p.Val1180=) | |
19 | g.35826580C>T | CA507091331 | NPHS1 | c.3660G>A (p.Val1220=) c.3540G>A (p.Val1180=) | ClinVar dbSNP gnomAD v4 |
19 | g.35826581A>C | CA405415113 | NPHS1 | c.3659T>G (p.Val1220Gly) c.3539T>G (p.Val1180Gly) | |
19 | g.35826581A>G | CA405415114 | NPHS1 | c.3659T>C (p.Val1220Ala) c.3539T>C (p.Val1180Ala) | gnomAD v4 |
19 | g.35826581A>T | CA405415115 | NPHS1 | c.3659T>A (p.Val1220Glu) c.3539T>A (p.Val1180Glu) | gnomAD v4 |
19 | g.35826582C>A | CA405415116 | NPHS1 | c.3658G>T (p.Val1220Leu) c.3538G>T (p.Val1180Leu) | |
19 | g.35826582C= | CA2333840033 | NPHS1 | c.3658G= (p.Val1220=) c.3538G= (p.Val1180=) | |
19 | g.35826582C>G | CA405415117 | NPHS1 | c.3658G>C (p.Val1220Leu) c.3538G>C (p.Val1180Leu) | |
19 | g.35826582C>T | CA405415118 | NPHS1 | c.3658G>A (p.Val1220Met) c.3538G>A (p.Val1180Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826583C>A | CA307827436 | NPHS1 | c.3657G>T (p.Gln1219His) c.3537G>T (p.Gln1179His) | dbSNP gnomAD v4 |
19 | g.35826583C= | CA2333840034 | NPHS1 | c.3657G= (p.Gln1219=) c.3537G= (p.Gln1179=) | |
19 | g.35826583C>G | CA405415119 | NPHS1 | c.3657G>C (p.Gln1219His) c.3537G>C (p.Gln1179His) | |
19 | g.35826583C>T | CA507091332 | NPHS1 | c.3657G>A (p.Gln1219=) c.3537G>A (p.Gln1179=) | gnomAD v4 |
19 | g.35826584del | CA2584601233 | NPHS1 | c.3656del (p.Gln1219ArgfsTer18) c.3536del (p.Gln1179ArgfsTer18) | gnomAD v4 |
19 | g.35826584T>A | CA405415120 | NPHS1 | c.3656A>T (p.Gln1219Leu) c.3536A>T (p.Gln1179Leu) | |
19 | g.35826584T>C | CA405415122 | NPHS1 | c.3656A>G (p.Gln1219Arg) c.3536A>G (p.Gln1179Arg) | |
19 | g.35826584T>G | CA405415121 | NPHS1 | c.3656A>C (p.Gln1219Pro) c.3536A>C (p.Gln1179Pro) | |
19 | g.35826585G>A | CA405415123 | NPHS1 | c.3655C>T (p.Gln1219Ter) c.3535C>T (p.Gln1179Ter) | |
19 | g.35826585G>C | CA405415124 | NPHS1 | c.3655C>G (p.Gln1219Glu) c.3535C>G (p.Gln1179Glu) | |
19 | g.35826585G>T | CA405415125 | NPHS1 | c.3655C>A (p.Gln1219Lys) c.3535C>A (p.Gln1179Lys) | |
19 | g.35826586G>A | CA9389676 | NPHS1 | c.3654C>T (p.Asp1218=) c.3534C>T (p.Asp1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826586G>C | CA405415126 | NPHS1 | c.3654C>G (p.Asp1218Glu) c.3534C>G (p.Asp1178Glu) | |
19 | g.35826586G= | CA2333840035 | NPHS1 | c.3654C= (p.Asp1218=) c.3534C= (p.Asp1178=) | |
19 | g.35826586G>T | CA405415127 | NPHS1 | c.3654C>A (p.Asp1218Glu) c.3534C>A (p.Asp1178Glu) | |
19 | g.35826587T>A | CA405415128 | NPHS1 | c.3653A>T (p.Asp1218Val) c.3533A>T (p.Asp1178Val) | |
19 | g.35826587T>C | CA405415129 | NPHS1 | c.3653A>G (p.Asp1218Gly) c.3533A>G (p.Asp1178Gly) | gnomAD v4 |
19 | g.35826587T>G | CA405415130 | NPHS1 | c.3653A>C (p.Asp1218Ala) c.3533A>C (p.Asp1178Ala) | |
19 | g.35826588C>A | CA405415131 | NPHS1 | c.3652G>T (p.Asp1218Tyr) c.3532G>T (p.Asp1178Tyr) | gnomAD v4 |
19 | g.35826588C>G | CA405415132 | NPHS1 | c.3652G>C (p.Asp1218His) c.3532G>C (p.Asp1178His) | |
19 | g.35826588C>T | CA405415133 | NPHS1 | c.3652G>A (p.Asp1218Asn) c.3532G>A (p.Asp1178Asn) | |
19 | g.35826589A= | CA2333840036 | NPHS1 | c.3651T= (p.Tyr1217=) c.3531T= (p.Tyr1177=) | |
19 | g.35826589A>C | CA405415135 | NPHS1 | c.3651T>G (p.Tyr1217Ter) c.3531T>G (p.Tyr1177Ter) | |
19 | g.35826589A>G | CA507091337 | NPHS1 | c.3651T>C (p.Tyr1217=) c.3531T>C (p.Tyr1177=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826589A>T | CA405415134 | NPHS1 | c.3651T>A (p.Tyr1217Ter) c.3531T>A (p.Tyr1177Ter) | gnomAD v4 |
19 | g.35826590T>A | CA405415136 | NPHS1 | c.3650A>T (p.Tyr1217Phe) c.3530A>T (p.Tyr1177Phe) | |
19 | g.35826590T>C | CA405415137 | NPHS1 | c.3650A>G (p.Tyr1217Cys) c.3530A>G (p.Tyr1177Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826590T>G | CA405415138 | NPHS1 | c.3650A>C (p.Tyr1217Ser) c.3530A>C (p.Tyr1177Ser) | |
19 | g.35826590T= | CA2333840037 | NPHS1 | c.3650A= (p.Tyr1217=) c.3530A= (p.Tyr1177=) | |
19 | g.35826591A= | CA2333840038 | NPHS1 | c.3649T= (p.Tyr1217=) c.3529T= (p.Tyr1177=) | |
19 | g.35826591A>C | CA9389677 | NPHS1 | c.3649T>G (p.Tyr1217Asp) c.3529T>G (p.Tyr1177Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826591A>G | CA405415139 | NPHS1 | c.3649T>C (p.Tyr1217His) c.3529T>C (p.Tyr1177His) | gnomAD v4 |
19 | g.35826591A>T | CA405415140 | NPHS1 | c.3649T>A (p.Tyr1217Asn) c.3529T>A (p.Tyr1177Asn) | |
19 | g.35826592G>A | CA507091338 | NPHS1 | c.3648C>T (p.Ile1216=) c.3528C>T (p.Ile1176=) | |
19 | g.35826592G>C | CA405415141 | NPHS1 | c.3648C>G (p.Ile1216Met) c.3528C>G (p.Ile1176Met) | |
19 | g.35826592G>T | CA507091339 | NPHS1 | c.3648C>A (p.Ile1216=) c.3528C>A (p.Ile1176=) | COSMIC |
19 | g.35826593A>C | CA405415142 | NPHS1 | c.3647T>G (p.Ile1216Ser) c.3527T>G (p.Ile1176Ser) | |
19 | g.35826593A>G | CA405415144 | NPHS1 | c.3647T>C (p.Ile1216Thr) c.3527T>C (p.Ile1176Thr) | |
19 | g.35826593A>T | CA405415143 | NPHS1 | c.3647T>A (p.Ile1216Asn) c.3527T>A (p.Ile1176Asn) | |
19 | g.35826594T>A | CA405415145 | NPHS1 | c.3646A>T (p.Ile1216Phe) c.3526A>T (p.Ile1176Phe) | |
19 | g.35826594T>C | CA405415146 | NPHS1 | c.3646A>G (p.Ile1216Val) c.3526A>G (p.Ile1176Val) | |
19 | g.35826594T>G | CA405415147 | NPHS1 | c.3646A>C (p.Ile1216Leu) c.3526A>C (p.Ile1176Leu) | |
19 | g.35826595T>A | CA9389678 | NPHS1 | c.3645A>T (p.Gly1215=) c.3525A>T (p.Gly1175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826595T>C | CA507091341 | NPHS1 | c.3645A>G (p.Gly1215=) c.3525A>G (p.Gly1175=) | ClinVar |
19 | g.35826595T>G | CA507091342 | NPHS1 | c.3645A>C (p.Gly1215=) c.3525A>C (p.Gly1175=) | gnomAD v4 |
19 | g.35826595T= | CA2333840039 | NPHS1 | c.3645A= (p.Gly1215=) c.3525A= (p.Gly1175=) | |
19 | g.35826596C>A | CA405415150 | NPHS1 | c.3644G>T (p.Gly1215Val) c.3524G>T (p.Gly1175Val) | |
19 | g.35826596C>G | CA405415148 | NPHS1 | c.3644G>C (p.Gly1215Ala) c.3524G>C (p.Gly1175Ala) | |
19 | g.35826596C>T | CA405415149 | NPHS1 | c.3644G>A (p.Gly1215Glu) c.3524G>A (p.Gly1175Glu) | |
19 | g.35826597C>A | CA405415151 | NPHS1 | c.3643G>T (p.Gly1215Ter) c.3523G>T (p.Gly1175Ter) | |
19 | g.35826597C= | CA2333840040 | NPHS1 | c.3643G= (p.Gly1215=) c.3523G= (p.Gly1175=) | |
19 | g.35826597C>G | CA405415152 | NPHS1 | c.3643G>C (p.Gly1215Arg) c.3523G>C (p.Gly1175Arg) | |
19 | g.35826597C>T | CA307827442 | NPHS1 | c.3643G>A (p.Gly1215Arg) c.3523G>A (p.Gly1175Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.35826598T>A | CA405415153 | NPHS1 | c.3642A>T (p.Arg1214Ser) c.3522A>T (p.Arg1174Ser) | |
19 | g.35826598T>C | CA507091343 | NPHS1 | c.3642A>G (p.Arg1214=) c.3522A>G (p.Arg1174=) | |
19 | g.35826598T>G | CA405415154 | NPHS1 | c.3642A>C (p.Arg1214Ser) c.3522A>C (p.Arg1174Ser) | |
19 | g.35826599C>A | CA405415155 | NPHS1 | c.3641G>T (p.Arg1214Ile) c.3521G>T (p.Arg1174Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35826599C= | CA2333840041 | NPHS1 | c.3641G= (p.Arg1214=) c.3521G= (p.Arg1174=) | |
19 | g.35826599C>G | CA405415156 | NPHS1 | c.3641G>C (p.Arg1214Thr) c.3521G>C (p.Arg1174Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826599C>T | CA405415157 | NPHS1 | c.3641G>A (p.Arg1214Lys) c.3521G>A (p.Arg1174Lys) | |
19 | g.35826600T>A | CA405415158 | NPHS1 | c.3640A>T (p.Arg1214Ter) c.3520A>T (p.Arg1174Ter) | |
19 | g.35826600T>C | CA9389679 | NPHS1 | c.3640A>G (p.Arg1214Gly) c.3520A>G (p.Arg1174Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826600T>G | CA507091345 | NPHS1 | c.3640A>C (p.Arg1214=) c.3520A>C (p.Arg1174=) | |
19 | g.35826600T= | CA2333840042 | NPHS1 | c.3640A= (p.Arg1214=) c.3520A= (p.Arg1174=) | |
19 | g.35826601T>A | CA507091346 | NPHS1 | c.3639A>T (p.Pro1213=) c.3519A>T (p.Pro1173=) | ClinVar |
19 | g.35826601T>C | CA507091347 | NPHS1 | c.3639A>G (p.Pro1213=) c.3519A>G (p.Pro1173=) | |
19 | g.35826601T>G | CA507091348 | NPHS1 | c.3639A>C (p.Pro1213=) c.3519A>C (p.Pro1173=) | |
19 | g.35826602G>A | CA307827447 | NPHS1 | c.3638C>T (p.Pro1213Leu) c.3518C>T (p.Pro1173Leu) | dbSNP |
19 | g.35826602G>C | CA405415159 | NPHS1 | c.3638C>G (p.Pro1213Arg) c.3518C>G (p.Pro1173Arg) | gnomAD v4 |
19 | g.35826602G= | CA2333840043 | NPHS1 | c.3638C= (p.Pro1213=) c.3518C= (p.Pro1173=) | |
19 | g.35826602G>T | CA405415160 | NPHS1 | c.3638C>A (p.Pro1213Gln) c.3518C>A (p.Pro1173Gln) | |
19 | g.35826603G>A | CA405415163 | NPHS1 | c.3637C>T (p.Pro1213Ser) c.3517C>T (p.Pro1173Ser) | gnomAD v4 |
19 | g.35826603G>C | CA405415162 | NPHS1 | c.3637C>G (p.Pro1213Ala) c.3517C>G (p.Pro1173Ala) | gnomAD v4 |
19 | g.35826603G>T | CA405415161 | NPHS1 | c.3637C>A (p.Pro1213Thr) c.3517C>A (p.Pro1173Thr) | gnomAD v4 |
19 | g.35826604A= | CA2333840044 | NPHS1 | c.3636T= (p.Asp1212=) c.3516T= (p.Asp1172=) | |
19 | g.35826604A>C | CA405415164 | NPHS1 | c.3636T>G (p.Asp1212Glu) c.3516T>G (p.Asp1172Glu) | |
19 | g.35826604A>G | CA507091349 | NPHS1 | c.3636T>C (p.Asp1212=) c.3516T>C (p.Asp1172=) | |
19 | g.35826604A>T | CA307827451 | NPHS1 | c.3636T>A (p.Asp1212Glu) c.3516T>A (p.Asp1172Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826605T>A | CA405415165 | NPHS1 | c.3635A>T (p.Asp1212Val) c.3515A>T (p.Asp1172Val) | |
19 | g.35826605T>C | CA405415166 | NPHS1 | c.3635A>G (p.Asp1212Gly) c.3515A>G (p.Asp1172Gly) | |
19 | g.35826605T>G | CA405415167 | NPHS1 | c.3635A>C (p.Asp1212Ala) c.3515A>C (p.Asp1172Ala) | |
19 | g.35826606C>A | CA405415168 | NPHS1 | c.3634G>T (p.Asp1212Tyr) c.3514G>T (p.Asp1172Tyr) | |
19 | g.35826606C>G | CA405415169 | NPHS1 | c.3634G>C (p.Asp1212His) c.3514G>C (p.Asp1172His) | |
19 | g.35826606C>T | CA405415170 | NPHS1 | c.3634G>A (p.Asp1212Asn) c.3514G>A (p.Asp1172Asn) | COSMIC |
19 | g.35826607C>A | CA405415171 | NPHS1 | c.3633G>T (p.Gln1211His) c.3513G>T (p.Gln1171His) | |
19 | g.35826607C= | CA2333840045 | NPHS1 | c.3633G= (p.Gln1211=) c.3513G= (p.Gln1171=) | |
19 | g.35826607C>G | CA405415172 | NPHS1 | c.3633G>C (p.Gln1211His) c.3513G>C (p.Gln1171His) | |
19 | g.35826607C>T | CA507091350 | NPHS1 | c.3633G>A (p.Gln1211=) c.3513G>A (p.Gln1171=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826608T>A | CA405415173 | NPHS1 | c.3632A>T (p.Gln1211Leu) c.3512A>T (p.Gln1171Leu) | |
19 | g.35826608T>C | CA405415174 | NPHS1 | c.3632A>G (p.Gln1211Arg) c.3512A>G (p.Gln1171Arg) | |
19 | g.35826608T>G | CA405415175 | NPHS1 | c.3632A>C (p.Gln1211Pro) c.3512A>C (p.Gln1171Pro) | |
19 | g.35826609G>A | CA405415177 | NPHS1 | c.3631C>T (p.Gln1211Ter) c.3511C>T (p.Gln1171Ter) | |
19 | g.35826609G>C | CA405415178 | NPHS1 | c.3631C>G (p.Gln1211Glu) c.3511C>G (p.Gln1171Glu) | dbSNP gnomAD v2 |
19 | g.35826609G= | CA2333840046 | NPHS1 | c.3631C= (p.Gln1211=) c.3511C= (p.Gln1171=) | |
19 | g.35826609G>T | CA405415176 | NPHS1 | c.3631C>A (p.Gln1211Lys) c.3511C>A (p.Gln1171Lys) | |
19 | g.35826610A= | CA2333840047 | NPHS1 | c.3630T= (p.Tyr1210=) c.3510T= (p.Tyr1170=) | |
19 | g.35826610A>C | CA405415179 | NPHS1 | c.3630T>G (p.Tyr1210Ter) c.3510T>G (p.Tyr1170Ter) | |
19 | g.35826610A>G | CA507091351 | NPHS1 | c.3630T>C (p.Tyr1210=) c.3510T>C (p.Tyr1170=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826610A>T | CA405415180 | NPHS1 | c.3630T>A (p.Tyr1210Ter) c.3510T>A (p.Tyr1170Ter) | |
19 | g.35826611T>A | CA405415181 | NPHS1 | c.3629A>T (p.Tyr1210Phe) c.3509A>T (p.Tyr1170Phe) | |
19 | g.35826611T>C | CA405415182 | NPHS1 | c.3629A>G (p.Tyr1210Cys) c.3509A>G (p.Tyr1170Cys) | |
19 | g.35826611T>G | CA9389680 | NPHS1 | c.3629A>C (p.Tyr1210Ser) c.3509A>C (p.Tyr1170Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826611T= | CA2333840048 | NPHS1 | c.3629A= (p.Tyr1210=) c.3509A= (p.Tyr1170=) | |
19 | g.35826612A>C | CA405415183 | NPHS1 | c.3628T>G (p.Tyr1210Asp) c.3508T>G (p.Tyr1170Asp) | |
19 | g.35826612A>G | CA405415184 | NPHS1 | c.3628T>C (p.Tyr1210His) c.3508T>C (p.Tyr1170His) | gnomAD v4 |
19 | g.35826612A>T | CA405415185 | NPHS1 | c.3628T>A (p.Tyr1210Asn) c.3508T>A (p.Tyr1170Asn) | |
19 | g.35826613T>A | CA507091355 | NPHS1 | c.3627A>T (p.Thr1209=) c.3507A>T (p.Thr1169=) | |
19 | g.35826613T>C | CA9389681 | NPHS1 | c.3627A>G (p.Thr1209=) c.3507A>G (p.Thr1169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826613T>G | CA507091356 | NPHS1 | c.3627A>C (p.Thr1209=) c.3507A>C (p.Thr1169=) | |
19 | g.35826613T= | CA2333840049 | NPHS1 | c.3627A= (p.Thr1209=) c.3507A= (p.Thr1169=) | |
19 | g.35826614G>A | CA405415186 | NPHS1 | c.3626C>T (p.Thr1209Ile) c.3506C>T (p.Thr1169Ile) | |
19 | g.35826614G>C | CA405415187 | NPHS1 | c.3626C>G (p.Thr1209Arg) c.3506C>G (p.Thr1169Arg) | |
19 | g.35826614G>T | CA405415188 | NPHS1 | c.3626C>A (p.Thr1209Lys) c.3506C>A (p.Thr1169Lys) | |
19 | g.35826614_35826618del | CA913015893 | NPHS1 | c.3622_3626del (p.Asp1208IlefsTer9) c.3502_3506del (p.Asp1168IlefsTer9) | |
19 | g.35826614_35826618delinsGTGTC | CA2333840050 | NPHS1 | c.3622_3626delinsGACAC (p.Asp1208=) c.3502_3506delinsGACAC (p.Asp1168=) | |
19 | g.35826615T>A | CA9389682 | NPHS1 | c.3625A>T (p.Thr1209Ser) c.3505A>T (p.Thr1169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826615T>C | CA9389683 | NPHS1 | c.3625A>G (p.Thr1209Ala) c.3505A>G (p.Thr1169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826615T>G | CA405415189 | NPHS1 | c.3625A>C (p.Thr1209Pro) c.3505A>C (p.Thr1169Pro) | |
19 | g.35826615T= | CA2333840051 | NPHS1 | c.3625A= (p.Thr1209=) c.3505A= (p.Thr1169=) | |
19 | g.35826616_35826619del | CA632775038 | NPHS1 | c.3622_3625del (p.Asp1208HisfsTer28) c.3502_3505del (p.Asp1168HisfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826616G>A | CA507091357 | NPHS1 | c.3624C>T (p.Asp1208=) c.3504C>T (p.Asp1168=) | |
19 | g.35826616G>C | CA405415190 | NPHS1 | c.3624C>G (p.Asp1208Glu) c.3504C>G (p.Asp1168Glu) | |
19 | g.35826616G>T | CA405415191 | NPHS1 | c.3624C>A (p.Asp1208Glu) c.3504C>A (p.Asp1168Glu) | |
19 | g.35826617T>A | CA405415192 | NPHS1 | c.3623A>T (p.Asp1208Val) c.3503A>T (p.Asp1168Val) | |
19 | g.35826617T>C | CA405415193 | NPHS1 | c.3623A>G (p.Asp1208Gly) c.3503A>G (p.Asp1168Gly) | |
19 | g.35826617T>G | CA405415194 | NPHS1 | c.3623A>C (p.Asp1208Ala) c.3503A>C (p.Asp1168Ala) | |
19 | g.35826618C>A | CA405415195 | NPHS1 | c.3622G>T (p.Asp1208Tyr) c.3502G>T (p.Asp1168Tyr) | COSMIC |
19 | g.35826618C>G | CA405415196 | NPHS1 | c.3622G>C (p.Asp1208His) c.3502G>C (p.Asp1168His) | |
19 | g.35826618C>T | CA405415197 | NPHS1 | c.3622G>A (p.Asp1208Asn) c.3502G>A (p.Asp1168Asn) | |
19 | g.35826619T>A | CA405415198 | NPHS1 | c.3621A>T (p.Glu1207Asp) c.3501A>T (p.Glu1167Asp) | gnomAD v4 |
19 | g.35826619T>C | CA507091359 | NPHS1 | c.3621A>G (p.Glu1207=) c.3501A>G (p.Glu1167=) | |
19 | g.35826619T>G | CA405415199 | NPHS1 | c.3621A>C (p.Glu1207Asp) c.3501A>C (p.Glu1167Asp) | |
19 | g.35826620T>A | CA405415200 | NPHS1 | c.3620A>T (p.Glu1207Val) c.3500A>T (p.Glu1167Val) | |
19 | g.35826620T>C | CA405415201 | NPHS1 | c.3620A>G (p.Glu1207Gly) c.3500A>G (p.Glu1167Gly) | |
19 | g.35826620T>G | CA405415202 | NPHS1 | c.3620A>C (p.Glu1207Ala) c.3500A>C (p.Glu1167Ala) | |
19 | g.35826620_35826621del | CA913015894 | NPHS1 | c.3619_3620del (p.Glu1207ArgfsTer11) c.3499_3500del (p.Glu1167ArgfsTer11) | |
19 | g.35826620_35826621delinsTC | CA2333840052 | NPHS1 | c.3619_3620delinsGA (p.Glu1207=) c.3499_3500delinsGA (p.Glu1167=) | |
19 | g.35826621del | CA632775039 | NPHS1 | c.3619del (p.Glu1207LysfsTer30) c.3499del (p.Glu1167LysfsTer30) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826621C>A | CA405415204 | NPHS1 | c.3619G>T (p.Glu1207Ter) c.3499G>T (p.Glu1167Ter) | COSMIC |
19 | g.35826621C>G | CA405415205 | NPHS1 | c.3619G>C (p.Glu1207Gln) c.3499G>C (p.Glu1167Gln) | |
19 | g.35826621C>T | CA405415203 | NPHS1 | c.3619G>A (p.Glu1207Lys) c.3499G>A (p.Glu1167Lys) | |
19 | g.35826622A>C | CA507091360 | NPHS1 | c.3618T>G (p.Pro1206=) c.3498T>G (p.Pro1166=) | |
19 | g.35826622A>G | CA507091362 | NPHS1 | c.3618T>C (p.Pro1206=) c.3498T>C (p.Pro1166=) | |
19 | g.35826622A>T | CA507091361 | NPHS1 | c.3618T>A (p.Pro1206=) c.3498T>A (p.Pro1166=) | |
19 | g.35826623G>A | CA405415206 | NPHS1 | c.3617C>T (p.Pro1206Leu) c.3497C>T (p.Pro1166Leu) | |
19 | g.35826623G>C | CA405415207 | NPHS1 | c.3617C>G (p.Pro1206Arg) c.3497C>G (p.Pro1166Arg) | |
19 | g.35826623G>T | CA405415208 | NPHS1 | c.3617C>A (p.Pro1206His) c.3497C>A (p.Pro1166His) | |
19 | g.35826624G>A | CA405415209 | NPHS1 | c.3616C>T (p.Pro1206Ser) c.3496C>T (p.Pro1166Ser) | |
19 | g.35826624G>C | CA405415210 | NPHS1 | c.3616C>G (p.Pro1206Ala) c.3496C>G (p.Pro1166Ala) | |
19 | g.35826624G>T | CA405415211 | NPHS1 | c.3616C>A (p.Pro1206Thr) c.3496C>A (p.Pro1166Thr) | |
19 | g.35826625C>A | CA405415212 | NPHS1 | c.3615G>T (p.Trp1205Cys) c.3495G>T (p.Trp1165Cys) | |
19 | g.35826625C>G | CA405415213 | NPHS1 | c.3615G>C (p.Trp1205Cys) c.3495G>C (p.Trp1165Cys) | |
19 | g.35826625C>T | CA405415214 | NPHS1 | c.3615G>A (p.Trp1205Ter) c.3495G>A (p.Trp1165Ter) | COSMIC |
19 | g.35826626C>A | CA405415215 | NPHS1 | c.3614G>T (p.Trp1205Leu) c.3494G>T (p.Trp1165Leu) | |
19 | g.35826626C>G | CA405415216 | NPHS1 | c.3614G>C (p.Trp1205Ser) c.3494G>C (p.Trp1165Ser) | |
19 | g.35826626C>T | CA405415217 | NPHS1 | c.3614G>A (p.Trp1205Ter) c.3494G>A (p.Trp1165Ter) | |
19 | g.35826626_35826627del | CA913015895 | NPHS1 | c.3613_3614del (p.Trp1205AlafsTer2) c.3493_3494del (p.Trp1165AlafsTer2) | |
19 | g.35826626_35826627delinsCA | CA2333839478 | NPHS1 | c.3613_3614delinsTG (p.Trp1205=) c.3493_3494delinsTG (p.Trp1165=) | |
19 | g.35826627del | CA658824407 | NPHS1 | c.3613del (p.Trp1205GlyfsTer?) c.3493del (p.Trp1165GlyfsTer?) | ClinVar dbSNP |
19 | g.35826627A>C | CA405415219 | NPHS1 | c.3613T>G (p.Trp1205Gly) c.3493T>G (p.Trp1165Gly) | |
19 | g.35826627A>G | CA405415220 | NPHS1 | c.3613T>C (p.Trp1205Arg) c.3493T>C (p.Trp1165Arg) | |
19 | g.35826627A>T | CA405415218 | NPHS1 | c.3613T>A (p.Trp1205Arg) c.3493T>A (p.Trp1165Arg) | |
19 | g.35826628G>A | CA507091363 | NPHS1 | c.3612C>T (p.His1204=) c.3492C>T (p.His1164=) | |
19 | g.35826628G>C | CA405415221 | NPHS1 | c.3612C>G (p.His1204Gln) c.3492C>G (p.His1164Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826628G= | CA2333839480 | NPHS1 | c.3612C= (p.His1204=) c.3492C= (p.His1164=) | |
19 | g.35826628G>T | CA405415222 | NPHS1 | c.3612C>A (p.His1204Gln) c.3492C>A (p.His1164Gln) | |
19 | g.35826629T>A | CA405415223 | NPHS1 | c.3611A>T (p.His1204Leu) c.3491A>T (p.His1164Leu) | gnomAD v4 |
19 | g.35826629T>C | CA9389684 | NPHS1 | c.3611A>G (p.His1204Arg) c.3491A>G (p.His1164Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826629T>G | CA405415224 | NPHS1 | c.3611A>C (p.His1204Pro) c.3491A>C (p.His1164Pro) | |
19 | g.35826629T= | CA2333839481 | NPHS1 | c.3611A= (p.His1204=) c.3491A= (p.His1164=) | |
19 | g.35826630G>A | CA405415227 | NPHS1 | c.3610C>T (p.His1204Tyr) c.3490C>T (p.His1164Tyr) | |
19 | g.35826630G>C | CA405415225 | NPHS1 | c.3610C>G (p.His1204Asp) c.3490C>G (p.His1164Asp) | |
19 | g.35826630G>T | CA405415226 | NPHS1 | c.3610C>A (p.His1204Asn) c.3490C>A (p.His1164Asn) | |
19 | g.35826631G>A | CA507091366 | NPHS1 | c.3609C>T (p.Leu1203=) c.3489C>T (p.Leu1163=) | |
19 | g.35826631G>C | CA507091364 | NPHS1 | c.3609C>G (p.Leu1203=) c.3489C>G (p.Leu1163=) | |
19 | g.35826631G>T | CA507091365 | NPHS1 | c.3609C>A (p.Leu1203=) c.3489C>A (p.Leu1163=) | |
19 | g.35826632A>C | CA405415228 | NPHS1 | c.3608T>G (p.Leu1203Arg) c.3488T>G (p.Leu1163Arg) | |
19 | g.35826632A>G | CA405415229 | NPHS1 | c.3608T>C (p.Leu1203Pro) c.3488T>C (p.Leu1163Pro) | |
19 | g.35826632A>T | CA405415230 | NPHS1 | c.3608T>A (p.Leu1203His) c.3488T>A (p.Leu1163His) | |
19 | g.35826633G>A | CA405415231 | NPHS1 | c.3607C>T (p.Leu1203Phe) c.3487C>T (p.Leu1163Phe) | gnomAD v4 |
19 | g.35826633G>C | CA405415232 | NPHS1 | c.3607C>G (p.Leu1203Val) c.3487C>G (p.Leu1163Val) | |
19 | g.35826633G>T | CA405415233 | NPHS1 | c.3607C>A (p.Leu1203Ile) c.3487C>A (p.Leu1163Ile) | |
19 | g.35826639_35826646del | CA2695198172 | NPHS1 | c.3600_3607del c.3480_3487del | ClinVar |
19 | g.35826634G>A | CA507091367 | NPHS1 | c.3606C>T (p.Asp1202=) c.3486C>T (p.Asp1162=) | |
19 | g.35826634G>C | CA405415235 | NPHS1 | c.3606C>G (p.Asp1202Glu) c.3486C>G (p.Asp1162Glu) | |
19 | g.35826634G>T | CA405415234 | NPHS1 | c.3606C>A (p.Asp1202Glu) c.3486C>A (p.Asp1162Glu) | |
19 | g.35826635T>A | CA405415236 | NPHS1 | c.3605A>T (p.Asp1202Val) c.3485A>T (p.Asp1162Val) | |
19 | g.35826635T>C | CA405415238 | NPHS1 | c.3605A>G (p.Asp1202Gly) c.3485A>G (p.Asp1162Gly) | |
19 | g.35826635T>G | CA405415237 | NPHS1 | c.3605A>C (p.Asp1202Ala) c.3485A>C (p.Asp1162Ala) | |
19 | g.35826636C>A | CA405415239 | NPHS1 | c.3604G>T (p.Asp1202Tyr) c.3484G>T (p.Asp1162Tyr) | |
19 | g.35826636C>G | CA405415241 | NPHS1 | c.3604G>C (p.Asp1202His) c.3484G>C (p.Asp1162His) | |
19 | g.35826636C>T | CA405415240 | NPHS1 | c.3604G>A (p.Asp1202Asn) c.3484G>A (p.Asp1162Asn) | gnomAD v4 COSMIC |
19 | g.35826637C>A | CA405415242 | NPHS1 | c.3603G>T (p.Trp1201Cys) c.3483G>T (p.Trp1161Cys) | |
19 | g.35826637C>G | CA405415244 | NPHS1 | c.3603G>C (p.Trp1201Cys) c.3483G>C (p.Trp1161Cys) | |
19 | g.35826637C>T | CA405415243 | NPHS1 | c.3603G>A (p.Trp1201Ter) c.3483G>A (p.Trp1161Ter) | |
19 | g.35826638C>A | CA405415245 | NPHS1 | c.3602G>T (p.Trp1201Leu) c.3482G>T (p.Trp1161Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826638C= | CA2333839482 | NPHS1 | c.3602G= (p.Trp1201=) c.3482G= (p.Trp1161=) | |
19 | g.35826638C>G | CA405415247 | NPHS1 | c.3602G>C (p.Trp1201Ser) c.3482G>C (p.Trp1161Ser) | |
19 | g.35826638C>T | CA405415246 | NPHS1 | c.3602G>A (p.Trp1201Ter) c.3482G>A (p.Trp1161Ter) | |
19 | g.35826639A>C | CA405415248 | NPHS1 | c.3601T>G (p.Trp1201Gly) c.3481T>G (p.Trp1161Gly) | |
19 | g.35826639A>G | CA405415249 | NPHS1 | c.3601T>C (p.Trp1201Arg) c.3481T>C (p.Trp1161Arg) | gnomAD v4 |
19 | g.35826639A>T | CA405415250 | NPHS1 | c.3601T>A (p.Trp1201Arg) c.3481T>A (p.Trp1161Arg) | |
19 | g.35826640G>A | CA507091368 | NPHS1 | c.3600C>T (p.Pro1200=) c.3480C>T (p.Pro1160=) | |
19 | g.35826640G>C | CA507091369 | NPHS1 | c.3600C>G (p.Pro1200=) c.3480C>G (p.Pro1160=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826640G= | CA2333839483 | NPHS1 | c.3600C= (p.Pro1200=) c.3480C= (p.Pro1160=) | |
19 | g.35826640G>T | CA507091370 | NPHS1 | c.3600C>A (p.Pro1200=) c.3480C>A (p.Pro1160=) | |
19 | g.35826641G>A | CA405415251 | NPHS1 | c.3599C>T (p.Pro1200Leu) c.3479C>T (p.Pro1160Leu) | |
19 | g.35826641G>C | CA9389686 | NPHS1 | c.3599C>G (p.Pro1200Arg) c.3479C>G (p.Pro1160Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826641G= | CA2333839485 | NPHS1 | c.3599C= (p.Pro1200=) c.3479C= (p.Pro1160=) | |
19 | g.35826641G>T | CA9389685 | NPHS1 | c.3599C>A (p.Pro1200His) c.3479C>A (p.Pro1160His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G>A | CA9389687 | NPHS1 | c.3598C>T (p.Pro1200Ser) c.3478C>T (p.Pro1160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G>C | CA405415252 | NPHS1 | c.3598C>G (p.Pro1200Ala) c.3478C>G (p.Pro1160Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826642G= | CA2333839494 | NPHS1 | c.3598C= (p.Pro1200=) c.3478C= (p.Pro1160=) | |
19 | g.35826642G>T | CA405415253 | NPHS1 | c.3598C>A (p.Pro1200Thr) c.3478C>A (p.Pro1160Thr) | |
19 | g.35826643T>A | CA507091371 | NPHS1 | c.3597A>T (p.Gly1199=) c.3477A>T (p.Gly1159=) | |
19 | g.35826643T>C | CA507091372 | NPHS1 | c.3597A>G (p.Gly1199=) c.3477A>G (p.Gly1159=) | |
19 | g.35826643T>G | CA507091373 | NPHS1 | c.3597A>C (p.Gly1199=) c.3477A>C (p.Gly1159=) | dbSNP |
19 | g.35826644C>A | CA405415254 | NPHS1 | c.3596G>T (p.Gly1199Val) c.3476G>T (p.Gly1159Val) | |
19 | g.35826644C= | CA2333839498 | NPHS1 | c.3596G= (p.Gly1199=) c.3476G= (p.Gly1159=) | |
19 | g.35826644C>G | CA9389688 | NPHS1 | c.3596G>C (p.Gly1199Ala) c.3476G>C (p.Gly1159Ala) | dbSNP ExAC gnomAD v2 |
19 | g.35826644C>T | CA405415255 | NPHS1 | c.3596G>A (p.Gly1199Glu) c.3476G>A (p.Gly1159Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826645C>A | CA405415258 | NPHS1 | c.3595G>T (p.Gly1199Ter) c.3475G>T (p.Gly1159Ter) | |
19 | g.35826645C>G | CA405415256 | NPHS1 | c.3595G>C (p.Gly1199Arg) c.3475G>C (p.Gly1159Arg) | |
19 | g.35826645C>T | CA405415257 | NPHS1 | c.3595G>A (p.Gly1199Arg) c.3475G>A (p.Gly1159Arg) | gnomAD v4 |
19 | g.35826646C>A | CA405415259 | NPHS1 | c.3595-1G>T (n.3595-1G>T) c.3475-1G>T (n.3475-1G>T) | |
19 | g.35826646C>G | CA405415260 | NPHS1 | c.3595-1G>C (n.3595-1G>C) c.3475-1G>C (n.3475-1G>C) | |
19 | g.35826646C>T | CA405415261 | NPHS1 | c.3595-1G>A (n.3595-1G>A) c.3475-1G>A (n.3475-1G>A) | COSMIC |
19 | g.35826646_35826647insATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCT | CA2814253202 | NPHS1 | c.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3595-2_3595-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT) c.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT (n.3475-2_3475-1insAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAAAGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGAT) | |
19 | g.35826647T>A | CA405415262 | NPHS1 | c.3595-2A>T (n.3595-2A>T) c.3475-2A>T (n.3475-2A>T) | |
19 | g.35826647T>C | CA250234 | NPHS1 | c.3595-2A>G (n.3595-2A>G) c.3475-2A>G (n.3475-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826647T>G | CA405415263 | NPHS1 | c.3595-2A>C (n.3595-2A>C) c.3475-2A>C (n.3475-2A>C) | |
19 | g.35826647T= | CA2333839500 | NPHS1 | c.3595-2A= (n.3595-2A=) c.3475-2A= (n.3475-2A=) | |
19 | g.35826647dup | CA2584601234 | NPHS1 | c.3595-2dup (n.3595-2dup) c.3475-2dup (n.3475-2dup) | gnomAD v4 |
19 | g.35826648G>A | CA2584601235 | NPHS1 | c.3595-3C>T (n.3595-3C>T) c.3475-3C>T (n.3475-3C>T) | gnomAD v4 |
19 | g.35826648G>C | CA2814253209 | NPHS1 | c.3595-3C>G (n.3595-3C>G) c.3475-3C>G (n.3475-3C>G) | |
19 | g.35826648G>T | CA2841058092 | NPHS1 | c.3595-3C>A (n.3595-3C>A) c.3475-3C>A (n.3475-3C>A) | |
19 | g.35826649A= | CA2333839502 | NPHS1 | c.3595-4T= (n.3595-4T=) c.3475-4T= (n.3475-4T=) | |
19 | g.35826649A>T | CA9389689 | NPHS1 | c.3595-4T>A (n.3595-4T>A) c.3475-4T>A (n.3475-4T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826650C>A | CA995489143 | NPHS1 | c.3595-5G>T (n.3595-5G>T) c.3475-5G>T (n.3475-5G>T) | gnomAD v3 gnomAD v4 |
19 | g.35826650C= | CA2333839505 | NPHS1 | c.3595-5G= (n.3595-5G=) c.3475-5G= (n.3475-5G=) | |
19 | g.35826650C>T | CA632775040 | NPHS1 | c.3595-5G>A (n.3595-5G>A) c.3475-5G>A (n.3475-5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826650_35826651delinsCA | CA2333839504 | NPHS1 | c.3595-6_3595-5delinsTG (n.3595-6_3595-5delinsTG) c.3475-6_3475-5delinsTG (n.3475-6_3475-5delinsTG) | |
19 | g.35826651del | CA2333839507 | NPHS1 | c.3595-6del (n.3595-6del) c.3475-6del (n.3475-6del) | dbSNP |
19 | g.35826652G>A | CA2580096846 | NPHS1 | c.3595-7C>T (n.3595-7C>T) c.3475-7C>T (n.3475-7C>T) | ClinVar gnomAD v4 |
19 | g.35826652_35826654del | CA995489177 | NPHS1 | c.3595-9_3595-7del (n.3595-9_3595-7del) c.3475-9_3475-7del (n.3475-9_3475-7del) | gnomAD v3 gnomAD v4 |
19 | g.35826653G>A | CA2573156254 | NPHS1 | c.3595-8C>T (n.3595-8C>T) c.3475-8C>T (n.3475-8C>T) | ClinVar dbSNP |
19 | g.35826654C>A | CA9389690 | NPHS1 | c.3595-9G>T (n.3595-9G>T) c.3475-9G>T (n.3475-9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826654C= | CA2333839510 | NPHS1 | c.3595-9G= (n.3595-9G=) c.3475-9G= (n.3475-9G=) | |
19 | g.35826654C>G | CA881817108 | NPHS1 | c.3595-9G>C (n.3595-9G>C) c.3475-9G>C (n.3475-9G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826654_35826655delinsCA | CA2333839512 | NPHS1 | c.3595-10_3595-9delinsTG (n.3595-10_3595-9delinsTG) c.3475-10_3475-9delinsTG (n.3475-10_3475-9delinsTG) | |
19 | g.35826659del | CA632775041 | NPHS1 | c.3595-10del (n.3595-10del) c.3475-10del (n.3475-10del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826657A= | CA2333839515 | NPHS1 | c.3595-12T= (n.3595-12T=) c.3475-12T= (n.3475-12T=) | |
19 | g.35826657A>G | CA9389691 | NPHS1 | c.3595-12T>C (n.3595-12T>C) c.3475-12T>C (n.3475-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |