Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35848257dup | CA2584603417 | NPHS1 | c.1314dup (p.Tyr439IlefsTer9) n.321dup | gnomAD v4 |
19 | g.35848257del | CA2576758940 | NPHS1 | c.1314del (p.Lys438AsnfsTer24) n.321del | |
19 | g.35848255T>A | CA405404768 | NPHS1 | c.1313A>T (p.Lys438Ile) n.320A>T | |
19 | g.35848255T>C | CA405404772 | NPHS1 | c.1313A>G (p.Lys438Arg) n.320A>G | |
19 | g.35848255T>G | CA405404777 | NPHS1 | c.1313A>C (p.Lys438Thr) n.320A>C | |
19 | g.35848256T>A | CA405404782 | NPHS1 | c.1312A>T (p.Lys438Ter) n.319A>T | |
19 | g.35848256T>C | CA405404786 | NPHS1 | c.1312A>G (p.Lys438Glu) n.319A>G | |
19 | g.35848256T>G | CA405404791 | NPHS1 | c.1312A>C (p.Lys438Gln) n.319A>C | |
19 | g.35848257T>A | CA507314386 | NPHS1 | c.1311A>T (p.Val437=) n.318A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848257T>C | CA507314387 | NPHS1 | c.1311A>G (p.Val437=) n.318A>G | |
19 | g.35848257T>G | CA507314388 | NPHS1 | c.1311A>C (p.Val437=) n.318A>C | |
19 | g.35848257T= | CA2333850031 | NPHS1 | c.1311A= (p.Val437=) n.318A= | |
19 | g.35848258A>C | CA405404796 | NPHS1 | c.1310T>G (p.Val437Gly) n.317T>G | |
19 | g.35848258A>G | CA405404800 | NPHS1 | c.1310T>C (p.Val437Ala) n.317T>C | |
19 | g.35848258A>T | CA405404804 | NPHS1 | c.1310T>A (p.Val437Glu) n.317T>A | |
19 | g.35848259C>A | CA405404809 | NPHS1 | c.1309G>T (p.Val437Leu) n.316G>T | gnomAD v4 |
19 | g.35848259C= | CA2333850034 | NPHS1 | c.1309G= (p.Val437=) n.316G= | |
19 | g.35848259C>G | CA405404813 | NPHS1 | c.1309G>C (p.Val437Leu) n.316G>C | gnomAD v4 |
19 | g.35848259C>T | CA9390481 | NPHS1 | c.1309G>A (p.Val437Ile) n.316G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848260G>A | CA9390482 | NPHS1 | c.1308C>T (p.Asn436=) n.315C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848260G>C | CA405404839 | NPHS1 | c.1308C>G (p.Asn436Lys) n.315C>G | gnomAD v4 |
19 | g.35848260G= | CA2333850039 | NPHS1 | c.1308C= (p.Asn436=) n.315C= | |
19 | g.35848260G>T | CA405404833 | NPHS1 | c.1308C>A (p.Asn436Lys) n.315C>A | gnomAD v4 |
19 | g.35848260_35848261dup | CA250115 | NPHS1 | c.1307_1308dup (p.Val437ThrfsTer2) n.314_315dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848261T>A | CA405404847 | NPHS1 | c.1307A>T (p.Asn436Ile) n.314A>T | |
19 | g.35848261T>C | CA405404857 | NPHS1 | c.1307A>G (p.Asn436Ser) n.314A>G | |
19 | g.35848261T>G | CA405404859 | NPHS1 | c.1307A>C (p.Asn436Thr) n.314A>C | |
19 | g.35848262T>A | CA405404864 | NPHS1 | c.1306A>T (p.Asn436Tyr) n.313A>T | |
19 | g.35848262T>C | CA405404867 | NPHS1 | c.1306A>G (p.Asn436Asp) n.313A>G | |
19 | g.35848262T>G | CA405404871 | NPHS1 | c.1306A>C (p.Asn436His) n.313A>C | |
19 | g.35848263C>A | CA507314394 | NPHS1 | c.1305G>T (p.Leu435=) n.312G>T | |
19 | g.35848263C= | CA2333850040 | NPHS1 | c.1305G= (p.Leu435=) n.312G= | |
19 | g.35848263C>G | CA507314395 | NPHS1 | c.1305G>C (p.Leu435=) n.312G>C | |
19 | g.35848263C>T | CA507314396 | NPHS1 | c.1305G>A (p.Leu435=) n.312G>A | dbSNP |
19 | g.35848264A>C | CA405404882 | NPHS1 | c.1304T>G (p.Leu435Arg) n.311T>G | |
19 | g.35848264A>G | CA405404885 | NPHS1 | c.1304T>C (p.Leu435Pro) n.311T>C | |
19 | g.35848264A>T | CA405404888 | NPHS1 | c.1304T>A (p.Leu435Gln) n.311T>A | |
19 | g.35848265G>A | CA507314398 | NPHS1 | c.1303C>T (p.Leu435=) n.310C>T | ClinVar |
19 | g.35848265G>C | CA405404893 | NPHS1 | c.1303C>G (p.Leu435Val) n.310C>G | |
19 | g.35848265G>T | CA405404897 | NPHS1 | c.1303C>A (p.Leu435Met) n.310C>A | |
19 | g.35848266G>A | CA507314400 | NPHS1 | c.1302C>T (p.Ile434=) n.309C>T | |
19 | g.35848266G>C | CA405404902 | NPHS1 | c.1302C>G (p.Ile434Met) n.309C>G | |
19 | g.35848266G>T | CA507314399 | NPHS1 | c.1302C>A (p.Ile434=) n.309C>A | |
19 | g.35848267A>C | CA405404914 | NPHS1 | c.1301T>G (p.Ile434Ser) n.308T>G | |
19 | g.35848267A>G | CA405404910 | NPHS1 | c.1301T>C (p.Ile434Thr) n.308T>C | |
19 | g.35848267A>T | CA405404906 | NPHS1 | c.1301T>A (p.Ile434Asn) n.308T>A | |
19 | g.35848268T>A | CA405404915 | NPHS1 | c.1300A>T (p.Ile434Phe) n.307A>T | |
19 | g.35848268T>C | CA405404916 | NPHS1 | c.1300A>G (p.Ile434Val) n.307A>G | |
19 | g.35848268T>G | CA405404917 | NPHS1 | c.1300A>C (p.Ile434Leu) n.307A>C | |
19 | g.35848269G>A | CA507314401 | NPHS1 | c.1299C>T (p.Leu433=) n.306C>T | gnomAD v4 |
19 | g.35848269G>C | CA507314402 | NPHS1 | c.1299C>G (p.Leu433=) n.306C>G | |
19 | g.35848269G>T | CA507314403 | NPHS1 | c.1299C>A (p.Leu433=) n.306C>A | gnomAD v4 |
19 | g.35848270A>C | CA405404920 | NPHS1 | c.1298T>G (p.Leu433Arg) n.305T>G | |
19 | g.35848270A>G | CA405404923 | NPHS1 | c.1298T>C (p.Leu433Pro) n.305T>C | |
19 | g.35848270A>T | CA405404926 | NPHS1 | c.1298T>A (p.Leu433His) n.305T>A | |
19 | g.35848271G>A | CA346560 | NPHS1 | c.1297C>T (p.Leu433Phe) n.304C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848271G>C | CA405404933 | NPHS1 | c.1297C>G (p.Leu433Val) n.304C>G | |
19 | g.35848271G= | CA2333850041 | NPHS1 | c.1297C= (p.Leu433=) n.304C= | |
19 | g.35848271G>T | CA405404934 | NPHS1 | c.1297C>A (p.Leu433Ile) n.304C>A | |
19 | g.35848272C>A | CA9390483 | NPHS1 | c.1296G>T (p.Ser432=) n.303G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848272C= | CA2333850042 | NPHS1 | c.1296G= (p.Ser432=) n.303G= | |
19 | g.35848272C>G | CA307786951 | NPHS1 | c.1296G>C (p.Ser432=) n.303G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848272C>T | CA9390484 | NPHS1 | c.1296G>A (p.Ser432=) n.303G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848273G>A | CA307786953 | NPHS1 | c.1295C>T (p.Ser432Leu) n.302C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848273G>C | CA405404948 | NPHS1 | c.1295C>G (p.Ser432Trp) n.302C>G | |
19 | g.35848273G= | CA2333850045 | NPHS1 | c.1295C= (p.Ser432=) n.302C= | |
19 | g.35848273G>T | CA405404951 | NPHS1 | c.1295C>A (p.Ser432Ter) n.302C>A | gnomAD v4 |
19 | g.35848274A>C | CA405404958 | NPHS1 | c.1294T>G (p.Ser432Ala) n.301T>G | |
19 | g.35848274A>G | CA405404959 | NPHS1 | c.1294T>C (p.Ser432Pro) n.301T>C | |
19 | g.35848274A>T | CA405404957 | NPHS1 | c.1294T>A (p.Ser432Thr) n.301T>A | |
19 | g.35848275C>A | CA405404961 | NPHS1 | c.1293G>T (p.Lys431Asn) n.300G>T | |
19 | g.35848275C= | CA2333850050 | NPHS1 | c.1293G= (p.Lys431=) n.300G= | |
19 | g.35848275C>G | CA405404960 | NPHS1 | c.1293G>C (p.Lys431Asn) n.300G>C | |
19 | g.35848275C>T | CA507314408 | NPHS1 | c.1293G>A (p.Lys431=) n.300G>A | ClinVar dbSNP |
19 | g.35848276T>A | CA405404965 | NPHS1 | c.1292A>T (p.Lys431Met) n.299A>T | gnomAD v4 |
19 | g.35848276T>C | CA405404968 | NPHS1 | c.1292A>G (p.Lys431Arg) n.299A>G | |
19 | g.35848276T>G | CA405404977 | NPHS1 | c.1292A>C (p.Lys431Thr) n.299A>C | |
19 | g.35848277dup | CA250114 | NPHS1 | c.1292dup (p.Ser432ValfsTer16) n.299dup | ClinVar dbSNP |
19 | g.35848277T>A | CA405404983 | NPHS1 | c.1291A>T (p.Lys431Ter) n.298A>T | |
19 | g.35848277T>C | CA405404986 | NPHS1 | c.1291A>G (p.Lys431Glu) n.298A>G | |
19 | g.35848277T>G | CA405404994 | NPHS1 | c.1291A>C (p.Lys431Gln) n.298A>C | |
19 | g.35848278C>A | CA405404995 | NPHS1 | c.1290G>T (p.Lys430Asn) n.297G>T | |
19 | g.35848278C= | CA2333850055 | NPHS1 | c.1290G= (p.Lys430=) n.297G= | |
19 | g.35848278C>G | CA405404998 | NPHS1 | c.1290G>C (p.Lys430Asn) n.297G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848278C>T | CA507314412 | NPHS1 | c.1290G>A (p.Lys430=) n.297G>A | |
19 | g.35848279T>A | CA405405002 | NPHS1 | c.1289A>T (p.Lys430Met) n.296A>T | |
19 | g.35848279T>C | CA9390485 | NPHS1 | c.1289A>G (p.Lys430Arg) n.296A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848279T>G | CA405405007 | NPHS1 | c.1289A>C (p.Lys430Thr) n.296A>C | gnomAD v4 |
19 | g.35848279T= | CA2333850056 | NPHS1 | c.1289A= (p.Lys430=) n.296A= | |
19 | g.35848280T>A | CA405405013 | NPHS1 | c.1288A>T (p.Lys430Ter) n.295A>T | |
19 | g.35848280T>C | CA405405018 | NPHS1 | c.1288A>G (p.Lys430Glu) n.295A>G | |
19 | g.35848280T>G | CA405405022 | NPHS1 | c.1288A>C (p.Lys430Gln) n.295A>C | |
19 | g.35848281G>A | CA507314416 | NPHS1 | c.1287C>T (p.Phe429=) n.294C>T | gnomAD v4 |
19 | g.35848281G>C | CA405405026 | NPHS1 | c.1287C>G (p.Phe429Leu) n.294C>G | |
19 | g.35848281G>T | CA405405027 | NPHS1 | c.1287C>A (p.Phe429Leu) n.294C>A | |
19 | g.35848282A= | CA2333850057 | NPHS1 | c.1286T= (p.Phe429=) n.293T= | |
19 | g.35848282A>C | CA405405031 | NPHS1 | c.1286T>G (p.Phe429Cys) n.293T>G | |
19 | g.35848282A>G | CA405405034 | NPHS1 | c.1286T>C (p.Phe429Ser) n.293T>C | dbSNP gnomAD v2 |
19 | g.35848282A>T | CA405405037 | NPHS1 | c.1286T>A (p.Phe429Tyr) n.293T>A | |
19 | g.35848283A= | CA2333850059 | NPHS1 | c.1285T= (p.Phe429=) n.292T= | |
19 | g.35848283A>C | CA405405044 | NPHS1 | c.1285T>G (p.Phe429Val) n.292T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848283A>G | CA405405047 | NPHS1 | c.1285T>C (p.Phe429Leu) n.292T>C | |
19 | g.35848283A>T | CA405405051 | NPHS1 | c.1285T>A (p.Phe429Ile) n.292T>A | |
19 | g.35848284G>A | CA507314419 | NPHS1 | c.1284C>T (p.Thr428=) n.291C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848284G>C | CA507314420 | NPHS1 | c.1284C>G (p.Thr428=) n.291C>G | |
19 | g.35848284G= | CA2333850062 | NPHS1 | c.1284C= (p.Thr428=) n.291C= | |
19 | g.35848284G>T | CA507314421 | NPHS1 | c.1284C>A (p.Thr428=) n.291C>A | |
19 | g.35848285G>A | CA405405056 | NPHS1 | c.1283C>T (p.Thr428Ile) n.290C>T | |
19 | g.35848285G>C | CA9390486 | NPHS1 | c.1283C>G (p.Thr428Ser) n.290C>G | dbSNP ExAC gnomAD v4 |
19 | g.35848285G= | CA2333850065 | NPHS1 | c.1283C= (p.Thr428=) n.290C= | |
19 | g.35848285G>T | CA405405061 | NPHS1 | c.1283C>A (p.Thr428Asn) n.290C>A | gnomAD v4 |
19 | g.35848286T>A | CA405405066 | NPHS1 | c.1282A>T (p.Thr428Ser) n.289A>T | |
19 | g.35848286T>C | CA405405069 | NPHS1 | c.1282A>G (p.Thr428Ala) n.289A>G | |
19 | g.35848286T>G | CA405405072 | NPHS1 | c.1282A>C (p.Thr428Pro) n.289A>C | dbSNP gnomAD v4 |
19 | g.35848286T= | CA2333850068 | NPHS1 | c.1282A= (p.Thr428=) n.289A= | |
19 | g.35848287C>A | CA405405081 | NPHS1 | c.1281G>T (p.Glu427Asp) n.288G>T | |
19 | g.35848287C>G | CA405405077 | NPHS1 | c.1281G>C (p.Glu427Asp) n.288G>C | gnomAD v4 |
19 | g.35848287C>T | CA507314423 | NPHS1 | c.1281G>A (p.Glu427=) n.288G>A | ClinVar gnomAD v4 |
19 | g.35848288T>A | CA405405086 | NPHS1 | c.1280A>T (p.Glu427Val) n.287A>T | |
19 | g.35848288T>C | CA405405089 | NPHS1 | c.1280A>G (p.Glu427Gly) n.287A>G | |
19 | g.35848288T>G | CA405405092 | NPHS1 | c.1280A>C (p.Glu427Ala) n.287A>C | |
19 | g.35848289C>A | CA405405097 | NPHS1 | c.1279G>T (p.Glu427Ter) n.286G>T | ClinVar dbSNP |
19 | g.35848289C>G | CA405405109 | NPHS1 | c.1279G>C (p.Glu427Gln) n.286G>C | |
19 | g.35848289C>T | CA405405112 | NPHS1 | c.1279G>A (p.Glu427Lys) n.286G>A | |
19 | g.35848290C>A | CA405405116 | NPHS1 | c.1278G>T (p.Lys426Asn) n.285G>T | |
19 | g.35848290C>G | CA405405118 | NPHS1 | c.1278G>C (p.Lys426Asn) n.285G>C | |
19 | g.35848290C>T | CA507314427 | NPHS1 | c.1278G>A (p.Lys426=) n.285G>A | ClinVar dbSNP gnomAD v4 |
19 | g.35848291T>A | CA405405123 | NPHS1 | c.1277A>T (p.Lys426Met) n.284A>T | |
19 | g.35848291T>C | CA405405130 | NPHS1 | c.1277A>G (p.Lys426Arg) n.284A>G | |
19 | g.35848291T>G | CA405405127 | NPHS1 | c.1277A>C (p.Lys426Thr) n.284A>C | |
19 | g.35848292T>A | CA405405134 | NPHS1 | c.1276A>T (p.Lys426Ter) n.283A>T | |
19 | g.35848292T>C | CA405405137 | NPHS1 | c.1276A>G (p.Lys426Glu) n.283A>G | gnomAD v4 |
19 | g.35848292T>G | CA405405141 | NPHS1 | c.1276A>C (p.Lys426Gln) n.283A>C | |
19 | g.35848292_35848293delinsTG | CA2333850070 | NPHS1 | c.1275_1276delinsCA (p.Thr425=) n.282_283delinsCA | |
19 | g.35848293G>A | CA507314428 | NPHS1 | c.1275C>T (p.Thr425=) n.282C>T | ClinVar |
19 | g.35848293G>C | CA507314432 | NPHS1 | c.1275C>G (p.Thr425=) n.282C>G | |
19 | g.35848293G>T | CA507314434 | NPHS1 | c.1275C>A (p.Thr425=) n.282C>A | |
19 | g.35848294del | CA250113 | NPHS1 | c.1275del (p.Lys426ArgfsTer10) n.282del | ClinVar dbSNP |
19 | g.35848294G>A | CA405405142 | NPHS1 | c.1274C>T (p.Thr425Ile) n.281C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848294G>C | CA405405146 | NPHS1 | c.1274C>G (p.Thr425Ser) n.281C>G | |
19 | g.35848294G= | CA2333850076 | NPHS1 | c.1274C= (p.Thr425=) n.281C= | |
19 | g.35848294G>T | CA405405143 | NPHS1 | c.1274C>A (p.Thr425Asn) n.281C>A | |
19 | g.35848295T>A | CA405405149 | NPHS1 | c.1273A>T (p.Thr425Ser) n.280A>T | |
19 | g.35848295T>C | CA405405150 | NPHS1 | c.1273A>G (p.Thr425Ala) n.280A>G | gnomAD v4 |
19 | g.35848295T>G | CA405405151 | NPHS1 | c.1273A>C (p.Thr425Pro) n.280A>C | |
19 | g.35848296G>A | CA507314437 | NPHS1 | c.1272C>T (p.Phe424=) n.279C>T | |
19 | g.35848296G>C | CA405405152 | NPHS1 | c.1272C>G (p.Phe424Leu) n.279C>G | |
19 | g.35848296G>T | CA405405154 | NPHS1 | c.1272C>A (p.Phe424Leu) n.279C>A | |
19 | g.35848297A>C | CA405405156 | NPHS1 | c.1271T>G (p.Phe424Cys) n.278T>G | |
19 | g.35848297A>G | CA405405157 | NPHS1 | c.1271T>C (p.Phe424Ser) n.278T>C | |
19 | g.35848297A>T | CA405405158 | NPHS1 | c.1271T>A (p.Phe424Tyr) n.278T>A | |
19 | g.35848298A>C | CA405405160 | NPHS1 | c.1270T>G (p.Phe424Val) n.277T>G | gnomAD v4 |
19 | g.35848298A>G | CA405405161 | NPHS1 | c.1270T>C (p.Phe424Leu) n.277T>C | COSMIC |
19 | g.35848298A>T | CA405405163 | NPHS1 | c.1270T>A (p.Phe424Ile) n.277T>A | |
19 | g.35848299G>A | CA507314438 | NPHS1 | c.1269C>T (p.Ala423=) n.276C>T | gnomAD v4 |
19 | g.35848299G>C | CA507314440 | NPHS1 | c.1269C>G (p.Ala423=) n.276C>G | |
19 | g.35848299G>T | CA507314439 | NPHS1 | c.1269C>A (p.Ala423=) n.276C>A | |
19 | g.35848300G>A | CA405405166 | NPHS1 | c.1268C>T (p.Ala423Val) n.275C>T | dbSNP gnomAD v4 |
19 | g.35848300G>C | CA9390487 | NPHS1 | c.1268C>G (p.Ala423Gly) n.275C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848300G= | CA2333850078 | NPHS1 | c.1268C= (p.Ala423=) n.275C= | |
19 | g.35848300G>T | CA9390488 | NPHS1 | c.1268C>A (p.Ala423Asp) n.275C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848301C>A | CA405405179 | NPHS1 | c.1267G>T (p.Ala423Ser) n.274G>T | |
19 | g.35848301C>G | CA405405187 | NPHS1 | c.1267G>C (p.Ala423Pro) n.274G>C | |
19 | g.35848301C>T | CA405405181 | NPHS1 | c.1267G>A (p.Ala423Thr) n.274G>A | |
19 | g.35848302T>A | CA405405190 | NPHS1 | c.1266A>T (p.Glu422Asp) n.273A>T | |
19 | g.35848302T>C | CA507314444 | NPHS1 | c.1266A>G (p.Glu422=) n.273A>G | |
19 | g.35848302T>G | CA405405194 | NPHS1 | c.1266A>C (p.Glu422Asp) n.273A>C | |
19 | g.35848303T>A | CA405405197 | NPHS1 | c.1265A>T (p.Glu422Val) n.272A>T | |
19 | g.35848303T>C | CA405405200 | NPHS1 | c.1265A>G (p.Glu422Gly) n.272A>G | |
19 | g.35848303T>G | CA405405203 | NPHS1 | c.1265A>C (p.Glu422Ala) n.272A>C | |
19 | g.35848304C>A | CA405405207 | NPHS1 | c.1264G>T (p.Glu422Ter) n.271G>T | |
19 | g.35848304C>G | CA405405211 | NPHS1 | c.1264G>C (p.Glu422Gln) n.271G>C | |
19 | g.35848304C>T | CA405405215 | NPHS1 | c.1264G>A (p.Glu422Lys) n.271G>A | |
19 | g.35848305A>C | CA405405219 | NPHS1 | c.1263T>G (p.Ser421Arg) n.270T>G | |
19 | g.35848305A>G | CA507314449 | NPHS1 | c.1263T>C (p.Ser421=) n.270T>C | |
19 | g.35848305A>T | CA405405223 | NPHS1 | c.1263T>A (p.Ser421Arg) n.270T>A | |
19 | g.35848306C>A | CA405405238 | NPHS1 | c.1262G>T (p.Ser421Ile) n.269G>T | gnomAD v4 |
19 | g.35848306C>G | CA405405234 | NPHS1 | c.1262G>C (p.Ser421Thr) n.269G>C | |
19 | g.35848306C>T | CA405405231 | NPHS1 | c.1262G>A (p.Ser421Asn) n.269G>A | gnomAD v4 |
19 | g.35848307T>A | CA405405243 | NPHS1 | c.1261A>T (p.Ser421Cys) n.268A>T | |
19 | g.35848307T>C | CA405405248 | NPHS1 | c.1261A>G (p.Ser421Gly) n.268A>G | gnomAD v4 |
19 | g.35848307T>G | CA405405252 | NPHS1 | c.1261A>C (p.Ser421Arg) n.268A>C | |
19 | g.35848309_35848321del | CA2576758941 | NPHS1 | c.1249_1261del (p.Cys417ValfsTer15) n.256_268del | |
19 | g.35848308G>A | CA507314452 | NPHS1 | c.1260C>T (p.Phe420=) n.267C>T | |
19 | g.35848308G>C | CA405405255 | NPHS1 | c.1260C>G (p.Phe420Leu) n.267C>G | |
19 | g.35848308G>T | CA405405259 | NPHS1 | c.1260C>A (p.Phe420Leu) n.267C>A | |
19 | g.35848309A>C | CA405405263 | NPHS1 | c.1259T>G (p.Phe420Cys) n.266T>G | |
19 | g.35848309A>G | CA405405268 | NPHS1 | c.1259T>C (p.Phe420Ser) n.266T>C | |
19 | g.35848309A>T | CA405405273 | NPHS1 | c.1259T>A (p.Phe420Tyr) n.266T>A | |
19 | g.35848310A= | CA2333850080 | NPHS1 | c.1258T= (p.Phe420=) n.265T= | |
19 | g.35848310A>C | CA9390489 | NPHS1 | c.1258T>G (p.Phe420Val) n.265T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848310A>G | CA405405279 | NPHS1 | c.1258T>C (p.Phe420Leu) n.265T>C | |
19 | g.35848310A>T | CA405405282 | NPHS1 | c.1258T>A (p.Phe420Ile) n.265T>A | |
19 | g.35848311G>A | CA507314454 | NPHS1 | c.1257C>T (p.Ala419=) n.264C>T | |
19 | g.35848311G>C | CA507314456 | NPHS1 | c.1257C>G (p.Ala419=) n.264C>G | |
19 | g.35848311G>T | CA507314458 | NPHS1 | c.1257C>A (p.Ala419=) n.264C>A | |
19 | g.35848312G>A | CA405405298 | NPHS1 | c.1256C>T (p.Ala419Val) n.263C>T | |
19 | g.35848312G>C | CA405405303 | NPHS1 | c.1256C>G (p.Ala419Gly) n.263C>G | dbSNP gnomAD v4 |
19 | g.35848312G= | CA2333850082 | NPHS1 | c.1256C= (p.Ala419=) n.263C= | |
19 | g.35848312G>T | CA405405288 | NPHS1 | c.1256C>A (p.Ala419Asp) n.263C>A | gnomAD v4 |
19 | g.35848313C>A | CA307787011 | NPHS1 | c.1255G>T (p.Ala419Ser) n.262G>T | dbSNP gnomAD v4 |
19 | g.35848313C= | CA2333850085 | NPHS1 | c.1255G= (p.Ala419=) n.262G= | |
19 | g.35848313C>G | CA405405307 | NPHS1 | c.1255G>C (p.Ala419Pro) n.262G>C | |
19 | g.35848313C>T | CA405405308 | NPHS1 | c.1255G>A (p.Ala419Thr) n.262G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848314C>A | CA405405309 | NPHS1 | c.1254G>T (p.Glu418Asp) n.261G>T | |
19 | g.35848314C>G | CA405405312 | NPHS1 | c.1254G>C (p.Glu418Asp) n.261G>C | |
19 | g.35848314C>T | CA507314463 | NPHS1 | c.1254G>A (p.Glu418=) n.261G>A | |
19 | g.35848315T>A | CA405405316 | NPHS1 | c.1253A>T (p.Glu418Val) n.260A>T | |
19 | g.35848315T>C | CA405405319 | NPHS1 | c.1253A>G (p.Glu418Gly) n.260A>G | |
19 | g.35848315T>G | CA405405322 | NPHS1 | c.1253A>C (p.Glu418Ala) n.260A>C | |
19 | g.35848316C>A | CA405405329 | NPHS1 | c.1252G>T (p.Glu418Ter) n.259G>T | |
19 | g.35848316C>G | CA405405332 | NPHS1 | c.1252G>C (p.Glu418Gln) n.259G>C | |
19 | g.35848316C>T | CA405405339 | NPHS1 | c.1252G>A (p.Glu418Lys) n.259G>A | COSMIC |
19 | g.35848317A= | CA2333850089 | NPHS1 | c.1251T= (p.Cys417=) n.258T= | |
19 | g.35848317A>C | CA405405340 | NPHS1 | c.1251T>G (p.Cys417Trp) n.258T>G | |
19 | g.35848317A>G | CA507314467 | NPHS1 | c.1251T>C (p.Cys417=) n.258T>C | dbSNP gnomAD v4 |
19 | g.35848317A>T | CA405405343 | NPHS1 | c.1251T>A (p.Cys417Ter) n.258T>A | |
19 | g.35848318C>A | CA250111 | NPHS1 | c.1250G>T (p.Cys417Phe) n.257G>T | ClinVar dbSNP |
19 | g.35848318C= | CA2333850093 | NPHS1 | c.1250G= (p.Cys417=) n.257G= | |
19 | g.35848318C>G | CA405405352 | NPHS1 | c.1250G>C (p.Cys417Ser) n.257G>C | |
19 | g.35848318C>T | CA405405349 | NPHS1 | c.1250G>A (p.Cys417Tyr) n.257G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848319A= | CA2333850095 | NPHS1 | c.1249T= (p.Cys417=) n.256T= | |
19 | g.35848319A>C | CA405405361 | NPHS1 | c.1249T>G (p.Cys417Gly) n.256T>G | |
19 | g.35848319A>G | CA9390490 | NPHS1 | c.1249T>C (p.Cys417Arg) n.256T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848319A>T | CA405405369 | NPHS1 | c.1249T>A (p.Cys417Ser) n.256T>A | |
19 | g.35848320T>A | CA507314470 | NPHS1 | c.1248A>T (p.Thr416=) n.255A>T | |
19 | g.35848320T>C | CA507314471 | NPHS1 | c.1248A>G (p.Thr416=) n.255A>G | ClinVar dbSNP gnomAD v4 |
19 | g.35848320T>G | CA507314472 | NPHS1 | c.1248A>C (p.Thr416=) n.255A>C | |
19 | g.35848320dup | CA2695228632 | NPHS1 | c.1248dup (p.Cys417MetfsTer2) n.255dup | |
19 | g.35848321G>A | CA9390491 | NPHS1 | c.1247C>T (p.Thr416Ile) n.254C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848321G>C | CA405405378 | NPHS1 | c.1247C>G (p.Thr416Arg) n.254C>G | |
19 | g.35848321G= | CA2333850099 | NPHS1 | c.1247C= (p.Thr416=) n.254C= | |
19 | g.35848321G>T | CA405405382 | NPHS1 | c.1247C>A (p.Thr416Lys) n.254C>A | |
19 | g.35848322T>A | CA405405387 | NPHS1 | c.1246A>T (p.Thr416Ser) n.253A>T | gnomAD v4 |
19 | g.35848322T>C | CA405405390 | NPHS1 | c.1246A>G (p.Thr416Ala) n.253A>G | |
19 | g.35848322T>G | CA405405392 | NPHS1 | c.1246A>C (p.Thr416Pro) n.253A>C | |
19 | g.35848323G>A | CA507314474 | NPHS1 | c.1245C>T (p.Leu415=) n.252C>T | dbSNP |
19 | g.35848323G>C | CA507314475 | NPHS1 | c.1245C>G (p.Leu415=) n.252C>G | |
19 | g.35848323G= | CA2333850101 | NPHS1 | c.1245C= (p.Leu415=) n.252C= | |
19 | g.35848323G>T | CA9390492 | NPHS1 | c.1245C>A (p.Leu415=) n.252C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848324A= | CA2333850104 | NPHS1 | c.1244T= (p.Leu415=) n.251T= | |
19 | g.35848324A>C | CA405405400 | NPHS1 | c.1244T>G (p.Leu415Arg) n.251T>G | |
19 | g.35848324A>G | CA405405415 | NPHS1 | c.1244T>C (p.Leu415Pro) n.251T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848324A>T | CA405405420 | NPHS1 | c.1244T>A (p.Leu415His) n.251T>A | |
19 | g.35848325G>A | CA405405427 | NPHS1 | c.1243C>T (p.Leu415Phe) n.250C>T | |
19 | g.35848325G>C | CA405405429 | NPHS1 | c.1243C>G (p.Leu415Val) n.250C>G | |
19 | g.35848325G>T | CA405405424 | NPHS1 | c.1243C>A (p.Leu415Ile) n.250C>A | |
19 | g.35848327dup | CA2695228634 | NPHS1 | c.1243dup (p.Leu415ProfsTer4) n.250dup | |
19 | g.35848326G>A | CA507314479 | NPHS1 | c.1242C>T (p.Thr414=) n.249C>T | dbSNP gnomAD v4 |
19 | g.35848326G>C | CA507314480 | NPHS1 | c.1242C>G (p.Thr414=) n.249C>G | |
19 | g.35848326G= | CA2333850107 | NPHS1 | c.1242C= (p.Thr414=) n.249C= | |
19 | g.35848326G>T | CA507314481 | NPHS1 | c.1242C>A (p.Thr414=) n.249C>A | COSMIC |
19 | g.35848326_35848327delinsAA | CA645619645 | NPHS1 | c.1241_1242delinsTT (p.Thr414Ile) n.248_249delinsTT | COSMIC |
19 | g.35848327G>A | CA9390493 | NPHS1 | c.1241C>T (p.Thr414Ile) n.248C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848327G>C | CA405405435 | NPHS1 | c.1241C>G (p.Thr414Ser) n.248C>G | |
19 | g.35848327G= | CA2333850109 | NPHS1 | c.1241C= (p.Thr414=) n.248C= | |
19 | g.35848327G>T | CA405405438 | NPHS1 | c.1241C>A (p.Thr414Asn) n.248C>A | dbSNP |
19 | g.35848328T>A | CA405405447 | NPHS1 | c.1240A>T (p.Thr414Ser) n.247A>T | |
19 | g.35848328T>C | CA405405450 | NPHS1 | c.1240A>G (p.Thr414Ala) n.247A>G | ClinVar dbSNP |
19 | g.35848328T>G | CA405405453 | NPHS1 | c.1240A>C (p.Thr414Pro) n.247A>C | |
19 | g.35848328T= | CA2333850112 | NPHS1 | c.1240A= (p.Thr414=) n.247A= | |
19 | g.35848329C>A | CA507314483 | NPHS1 | c.1239G>T (p.Leu413=) n.246G>T | dbSNP gnomAD v4 |
19 | g.35848329C= | CA2333850115 | NPHS1 | c.1239G= (p.Leu413=) n.246G= | |
19 | g.35848329C>G | CA507314485 | NPHS1 | c.1239G>C (p.Leu413=) n.246G>C | |
19 | g.35848329C>T | CA507314484 | NPHS1 | c.1239G>A (p.Leu413=) n.246G>A | ClinVar dbSNP gnomAD v4 |
19 | g.35848330A= | CA2333850117 | NPHS1 | c.1238T= (p.Leu413=) n.245T= | |
19 | g.35848330A>C | CA405405465 | NPHS1 | c.1238T>G (p.Leu413Arg) n.245T>G | |
19 | g.35848330A>G | CA405405481 | NPHS1 | c.1238T>C (p.Leu413Pro) n.245T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848330A>T | CA405405482 | NPHS1 | c.1238T>A (p.Leu413Gln) n.245T>A | |
19 | g.35848331G>A | CA507314487 | NPHS1 | c.1237C>T (p.Leu413=) n.244C>T | ClinVar dbSNP |
19 | g.35848331G>C | CA9390494 | NPHS1 | c.1237C>G (p.Leu413Val) n.244C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848331G= | CA2333850120 | NPHS1 | c.1237C= (p.Leu413=) n.244C= | |
19 | g.35848331G>T | CA405405496 | NPHS1 | c.1237C>A (p.Leu413Met) n.244C>A | |
19 | g.35848332A= | CA2333850123 | NPHS1 | c.1236T= (p.Gly412=) n.243T= | |
19 | g.35848332A>C | CA507314488 | NPHS1 | c.1236T>G (p.Gly412=) n.243T>G | dbSNP |
19 | g.35848332A>G | CA507314489 | NPHS1 | c.1236T>C (p.Gly412=) n.243T>C | |
19 | g.35848332A>T | CA507314490 | NPHS1 | c.1236T>A (p.Gly412=) n.243T>A | |
19 | g.35848332_35848333delinsAC | CA2333850122 | NPHS1 | c.1235_1236delinsGT (p.Gly412=) n.242_243delinsGT | |
19 | g.35848333C>A | CA405405505 | NPHS1 | c.1235G>T (p.Gly412Val) n.242G>T | COSMIC |
19 | g.35848333C= | CA2333850127 | NPHS1 | c.1235G= (p.Gly412=) n.242G= | |
19 | g.35848333C>G | CA405405507 | NPHS1 | c.1235G>C (p.Gly412Ala) n.242G>C | |
19 | g.35848333C>T | CA307787065 | NPHS1 | c.1235G>A (p.Gly412Asp) n.242G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848334del | CA881819541 | NPHS1 | c.1235del (p.Gly412ValfsTer2) n.242del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848334C>A | CA250109 | NPHS1 | c.1234G>T (p.Gly412Cys) n.241G>T | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.35848334C= | CA2333850131 | NPHS1 | c.1234G= (p.Gly412=) n.241G= | |
19 | g.35848334C>G | CA9390495 | NPHS1 | c.1234G>C (p.Gly412Arg) n.241G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848334C>T | CA9390496 | NPHS1 | c.1234G>A (p.Gly412Ser) n.241G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848335G>A | CA9390497 | NPHS1 | c.1233C>T (p.Asn411=) n.240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848335G>C | CA405405533 | NPHS1 | c.1233C>G (p.Asn411Lys) n.240C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848335G= | CA2333850135 | NPHS1 | c.1233C= (p.Asn411=) n.240C= | |
19 | g.35848335G>T | CA405405535 | NPHS1 | c.1233C>A (p.Asn411Lys) n.240C>A | dbSNP |
19 | g.35848336T>A | CA405405541 | NPHS1 | c.1232A>T (p.Asn411Ile) n.239A>T | |
19 | g.35848336T>C | CA405405543 | NPHS1 | c.1232A>G (p.Asn411Ser) n.239A>G | |
19 | g.35848336T>G | CA405405547 | NPHS1 | c.1232A>C (p.Asn411Thr) n.239A>C | |
19 | g.35848337T>A | CA405405549 | NPHS1 | c.1231A>T (p.Asn411Tyr) n.238A>T | |
19 | g.35848337T>C | CA405405554 | NPHS1 | c.1231A>G (p.Asn411Asp) n.238A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848337T>G | CA405405558 | NPHS1 | c.1231A>C (p.Asn411His) n.238A>C | |
19 | g.35848337T= | CA2333850142 | NPHS1 | c.1231A= (p.Asn411=) n.238A= | |
19 | g.35848338G>A | CA507314497 | NPHS1 | c.1230C>T (p.Asp410=) n.237C>T | |
19 | g.35848338G>C | CA405405561 | NPHS1 | c.1230C>G (p.Asp410Glu) n.237C>G | |
19 | g.35848338G>T | CA405405565 | NPHS1 | c.1230C>A (p.Asp410Glu) n.237C>A | |
19 | g.35848339T>A | CA405405571 | NPHS1 | c.1229A>T (p.Asp410Val) n.236A>T | gnomAD v4 COSMIC |
19 | g.35848339T>C | CA405405574 | NPHS1 | c.1229A>G (p.Asp410Gly) n.236A>G | |
19 | g.35848339T>G | CA405405578 | NPHS1 | c.1229A>C (p.Asp410Ala) n.236A>C | |
19 | g.35848340C>A | CA405405588 | NPHS1 | c.1228G>T (p.Asp410Tyr) n.235G>T | |
19 | g.35848340C>G | CA405405591 | NPHS1 | c.1228G>C (p.Asp410His) n.235G>C | |
19 | g.35848340C>T | CA405405585 | NPHS1 | c.1228G>A (p.Asp410Asn) n.235G>A | |
19 | g.35848341del | CA2695198193 | NPHS1 | c.1228del (p.Asp410ThrfsTer4) n.235del | ClinVar |
19 | g.35848341C>A | CA405405592 | NPHS1 | c.1227G>T (p.Glu409Asp) n.234G>T | |
19 | g.35848341C>G | CA405405593 | NPHS1 | c.1227G>C (p.Glu409Asp) n.234G>C | |
19 | g.35848341C>T | CA507314500 | NPHS1 | c.1227G>A (p.Glu409=) n.234G>A | ClinVar gnomAD v4 |
19 | g.35848342T>A | CA405405594 | NPHS1 | c.1226A>T (p.Glu409Val) n.233A>T | |
19 | g.35848342T>C | CA405405595 | NPHS1 | c.1226A>G (p.Glu409Gly) n.233A>G | dbSNP |
19 | g.35848342T>G | CA405405597 | NPHS1 | c.1226A>C (p.Glu409Ala) n.233A>C | |
19 | g.35848342T= | CA2333850145 | NPHS1 | c.1226A= (p.Glu409=) n.233A= | |
19 | g.35848343C>A | CA405405600 | NPHS1 | c.1225G>T (p.Glu409Ter) n.232G>T | |
19 | g.35848343C>G | CA405405603 | NPHS1 | c.1225G>C (p.Glu409Gln) n.232G>C | |
19 | g.35848343C>T | CA405405605 | NPHS1 | c.1225G>A (p.Glu409Lys) n.232G>A | |
19 | g.35848343_35848345del | CA2695228636 | NPHS1 | c.1223_1225del (p.Arg408_Glu409delinsGln) n.230_232del | |
19 | g.35848344C>A | CA507314504 | NPHS1 | c.1224G>T (p.Arg408=) n.231G>T | |
19 | g.35848344C>G | CA507314505 | NPHS1 | c.1224G>C (p.Arg408=) n.231G>C | |
19 | g.35848344C>T | CA507314506 | NPHS1 | c.1224G>A (p.Arg408=) n.231G>A | ClinVar |
19 | g.35848345C>A | CA405405613 | NPHS1 | c.1223G>T (p.Arg408Leu) n.230G>T | |
19 | g.35848345C= | CA2333850148 | NPHS1 | c.1223G= (p.Arg408=) n.230G= | |
19 | g.35848345C>G | CA405405614 | NPHS1 | c.1223G>C (p.Arg408Pro) n.230G>C | |
19 | g.35848345C>T | CA9390498 | NPHS1 | c.1223G>A (p.Arg408Gln) n.230G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848345_35848346delinsTA | CA2695228637 | NPHS1 | c.1222_1223delinsTA (p.Arg408Ter) n.229_230delinsTA | |
19 | g.35848346G>A | CA9390499 | NPHS1 | c.1222C>T (p.Arg408Trp) n.229C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848346G>C | CA405405625 | NPHS1 | c.1222C>G (p.Arg408Gly) n.229C>G | |
19 | g.35848346G= | CA2333850151 | NPHS1 | c.1222C= (p.Arg408=) n.229C= | |
19 | g.35848346G>T | CA507314510 | NPHS1 | c.1222C>A (p.Arg408=) n.229C>A | |
19 | g.35848347C>A | CA507314511 | NPHS1 | c.1221G>T (p.Arg407=) n.228G>T | |
19 | g.35848347C>G | CA507314512 | NPHS1 | c.1221G>C (p.Arg407=) n.228G>C | |
19 | g.35848347C>T | CA507314513 | NPHS1 | c.1221G>A (p.Arg407=) n.228G>A | ClinVar |
19 | g.35848348C>A | CA405405635 | NPHS1 | c.1220G>T (p.Arg407Leu) n.227G>T | |
19 | g.35848348C= | CA2333850153 | NPHS1 | c.1220G= (p.Arg407=) n.227G= | |
19 | g.35848348C>G | CA405405629 | NPHS1 | c.1220G>C (p.Arg407Pro) n.227G>C | |
19 | g.35848348C>T | CA9390500 | NPHS1 | c.1220G>A (p.Arg407Gln) n.227G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848349G>A | CA250107 | NPHS1 | c.1219C>T (p.Arg407Trp) n.226C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848349G>C | CA405405640 | NPHS1 | c.1219C>G (p.Arg407Gly) n.226C>G | |
19 | g.35848349G= | CA2333850155 | NPHS1 | c.1219C= (p.Arg407=) n.226C= | |
19 | g.35848349G>T | CA507314516 | NPHS1 | c.1219C>A (p.Arg407=) n.226C>A | |
19 | g.35848350C>A | CA507314518 | NPHS1 | c.1218G>T (p.Ala406=) n.225G>T | |
19 | g.35848350C= | CA2333850158 | NPHS1 | c.1218G= (p.Ala406=) n.225G= | |
19 | g.35848350C>G | CA507314517 | NPHS1 | c.1218G>C (p.Ala406=) n.225G>C | |
19 | g.35848350C>T | CA9390501 | NPHS1 | c.1218G>A (p.Ala406=) n.225G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848351G>A | CA9390502 | NPHS1 | c.1217C>T (p.Ala406Val) n.224C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848351G>C | CA405405652 | NPHS1 | c.1217C>G (p.Ala406Gly) n.224C>G | |
19 | g.35848351G= | CA2333850160 | NPHS1 | c.1217C= (p.Ala406=) n.224C= | |
19 | g.35848351G>T | CA405405653 | NPHS1 | c.1217C>A (p.Ala406Glu) n.224C>A | COSMIC |
19 | g.35848352C>A | CA405405654 | NPHS1 | c.1216G>T (p.Ala406Ser) n.223G>T | |
19 | g.35848352C>G | CA405405655 | NPHS1 | c.1216G>C (p.Ala406Pro) n.223G>C | |
19 | g.35848352C>T | CA405405658 | NPHS1 | c.1216G>A (p.Ala406Thr) n.223G>A | |
19 | g.35848353C>A | CA507314524 | NPHS1 | c.1215G>T (p.Leu405=) n.222G>T | |
19 | g.35848353C>G | CA507314523 | NPHS1 | c.1215G>C (p.Leu405=) n.222G>C | |
19 | g.35848353C>T | CA507314522 | NPHS1 | c.1215G>A (p.Leu405=) n.222G>A | gnomAD v4 |
19 | g.35848354A>C | CA405405662 | NPHS1 | c.1214T>G (p.Leu405Arg) n.221T>G | |
19 | g.35848354A>G | CA405405667 | NPHS1 | c.1214T>C (p.Leu405Pro) n.221T>C | |
19 | g.35848354A>T | CA405405671 | NPHS1 | c.1214T>A (p.Leu405Gln) n.221T>A | |
19 | g.35848355G>A | CA507314527 | NPHS1 | c.1213C>T (p.Leu405=) n.220C>T | |
19 | g.35848355G>C | CA405405679 | NPHS1 | c.1213C>G (p.Leu405Val) n.220C>G | |
19 | g.35848355G>T | CA405405675 | NPHS1 | c.1213C>A (p.Leu405Met) n.220C>A |