Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35848071G>A | CA507314304 | NPHS1 | c.1410C>T (p.Gly470=) n.417C>T | dbSNP gnomAD v2 |
19 | g.35848071G>C | CA507314305 | NPHS1 | c.1410C>G (p.Gly470=) n.417C>G | dbSNP |
19 | g.35848071G= | CA2333850441 | NPHS1 | c.1410C= (p.Gly470=) n.417C= | |
19 | g.35848071G>T | CA507314306 | NPHS1 | c.1410C>A (p.Gly470=) n.417C>A | ClinVar dbSNP gnomAD v4 |
19 | g.35848072C>A | CA405403753 | NPHS1 | c.1409G>T (p.Gly470Val) n.416G>T | |
19 | g.35848072C= | CA2333850442 | NPHS1 | c.1409G= (p.Gly470=) n.416G= | |
19 | g.35848072C>G | CA405403757 | NPHS1 | c.1409G>C (p.Gly470Ala) n.416G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848072C>T | CA405403760 | NPHS1 | c.1409G>A (p.Gly470Asp) n.416G>A | gnomAD v4 |
19 | g.35848076dup | CA2841207817 | NPHS1 | c.1409dup (p.Asn471GlnfsTer?) n.416dup | |
19 | g.35848076del | CA2584603397 | NPHS1 | c.1409del (p.Gly470AlafsTer16) n.416del | ClinVar gnomAD v4 |
19 | g.35848073C>A | CA405403767 | NPHS1 | c.1408G>T (p.Gly470Cys) n.415G>T | |
19 | g.35848073C= | CA2333850443 | NPHS1 | c.1408G= (p.Gly470=) n.415G= | |
19 | g.35848073C>G | CA405403771 | NPHS1 | c.1408G>C (p.Gly470Arg) n.415G>C | |
19 | g.35848073C>T | CA405403773 | NPHS1 | c.1408G>A (p.Gly470Ser) n.415G>A | dbSNP gnomAD v4 |
19 | g.35848074C>A | CA507314309 | NPHS1 | c.1407G>T (p.Gly469=) n.414G>T | |
19 | g.35848074C>G | CA507314308 | NPHS1 | c.1407G>C (p.Gly469=) n.414G>C | |
19 | g.35848074C>T | CA507314307 | NPHS1 | c.1407G>A (p.Gly469=) n.414G>A | ClinVar dbSNP COSMIC |
19 | g.35848075C>A | CA405403781 | NPHS1 | c.1406G>T (p.Gly469Val) n.413G>T | |
19 | g.35848075C>G | CA405403783 | NPHS1 | c.1406G>C (p.Gly469Ala) n.413G>C | |
19 | g.35848075C>T | CA405403785 | NPHS1 | c.1406G>A (p.Gly469Glu) n.413G>A | |
19 | g.35848075_35848077dup | CA2695228629 | NPHS1 | c.1404_1406dup (p.Gly469_Gly470insGly) n.411_413dup | |
19 | g.35848076C>A | CA405403789 | NPHS1 | c.1405G>T (p.Gly469Trp) n.412G>T | |
19 | g.35848076C= | CA2333850444 | NPHS1 | c.1405G= (p.Gly469=) n.412G= | |
19 | g.35848076C>G | CA405403791 | NPHS1 | c.1405G>C (p.Gly469Arg) n.412G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848076C>T | CA405403797 | NPHS1 | c.1405G>A (p.Gly469Arg) n.412G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848077G>A | CA9390447 | NPHS1 | c.1404C>T (p.Ile468=) n.411C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848077G>C | CA405403804 | NPHS1 | c.1404C>G (p.Ile468Met) n.411C>G | |
19 | g.35848077G= | CA2333850445 | NPHS1 | c.1404C= (p.Ile468=) n.411C= | |
19 | g.35848077G>T | CA507314310 | NPHS1 | c.1404C>A (p.Ile468=) n.411C>A | |
19 | g.35848078A= | CA2333850446 | NPHS1 | c.1403T= (p.Ile468=) n.410T= | |
19 | g.35848078A>C | CA405403810 | NPHS1 | c.1403T>G (p.Ile468Ser) n.410T>G | |
19 | g.35848078A>G | CA9390448 | NPHS1 | c.1403T>C (p.Ile468Thr) n.410T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848078A>T | CA405403816 | NPHS1 | c.1403T>A (p.Ile468Asn) n.410T>A | |
19 | g.35848079T>A | CA405403839 | NPHS1 | c.1402A>T (p.Ile468Phe) n.409A>T | |
19 | g.35848079T>C | CA405403841 | NPHS1 | c.1402A>G (p.Ile468Val) n.409A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848079T>G | CA405403846 | NPHS1 | c.1402A>C (p.Ile468Leu) n.409A>C | |
19 | g.35848079T= | CA2333850447 | NPHS1 | c.1402A= (p.Ile468=) n.409A= | |
19 | g.35848080A>C | CA507314313 | NPHS1 | c.1401T>G (p.Ala467=) n.408T>G | |
19 | g.35848080A>G | CA507314311 | NPHS1 | c.1401T>C (p.Ala467=) n.408T>C | gnomAD v4 |
19 | g.35848080A>T | CA507314312 | NPHS1 | c.1401T>A (p.Ala467=) n.408T>A | gnomAD v4 |
19 | g.35848081G>A | CA405403849 | NPHS1 | c.1400C>T (p.Ala467Val) n.407C>T | |
19 | g.35848081G>C | CA405403852 | NPHS1 | c.1400C>G (p.Ala467Gly) n.407C>G | |
19 | g.35848081G>T | CA405403855 | NPHS1 | c.1400C>A (p.Ala467Asp) n.407C>A | |
19 | g.35848082C>A | CA405403860 | NPHS1 | c.1399G>T (p.Ala467Ser) n.406G>T | |
19 | g.35848082C>G | CA405403864 | NPHS1 | c.1399G>C (p.Ala467Pro) n.406G>C | |
19 | g.35848082C>T | CA405403866 | NPHS1 | c.1399G>A (p.Ala467Thr) n.406G>A | |
19 | g.35848083C>A | CA405403874 | NPHS1 | c.1398G>T (p.Leu466Phe) n.405G>T | |
19 | g.35848083C>G | CA405403878 | NPHS1 | c.1398G>C (p.Leu466Phe) n.405G>C | |
19 | g.35848083C>T | CA507314314 | NPHS1 | c.1398G>A (p.Leu466=) n.405G>A | |
19 | g.35848084A>C | CA405403891 | NPHS1 | c.1397T>G (p.Leu466Trp) n.404T>G | |
19 | g.35848084A>G | CA405403887 | NPHS1 | c.1397T>C (p.Leu466Ser) n.404T>C | |
19 | g.35848084A>T | CA405403883 | NPHS1 | c.1397T>A (p.Leu466Ter) n.404T>A | |
19 | g.35848086dup | CA2841207819 | NPHS1 | c.1397dup (p.Leu466PhefsTer?) n.404dup | |
19 | g.35848085A= | CA2333850448 | NPHS1 | c.1396T= (p.Leu466=) n.403T= | |
19 | g.35848085A>C | CA405403897 | NPHS1 | c.1396T>G (p.Leu466Val) n.403T>G | |
19 | g.35848085A>G | CA507314315 | NPHS1 | c.1396T>C (p.Leu466=) n.403T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35848085A>T | CA405403903 | NPHS1 | c.1396T>A (p.Leu466Met) n.403T>A | |
19 | g.35848086A>C | CA405403905 | NPHS1 | c.1395T>G (p.Cys465Trp) n.402T>G | |
19 | g.35848086A>G | CA507314316 | NPHS1 | c.1395T>C (p.Cys465=) n.402T>C | |
19 | g.35848086A>T | CA405403910 | NPHS1 | c.1395T>A (p.Cys465Ter) n.402T>A | |
19 | g.35848087C>A | CA405403916 | NPHS1 | c.1394G>T (p.Cys465Phe) n.401G>T | |
19 | g.35848087C= | CA2333850449 | NPHS1 | c.1394G= (p.Cys465=) n.401G= | |
19 | g.35848087C>G | CA405403920 | NPHS1 | c.1394G>C (p.Cys465Ser) n.401G>C | |
19 | g.35848087C>T | CA250121 | NPHS1 | c.1394G>A (p.Cys465Tyr) n.401G>A | ClinVar dbSNP |
19 | g.35848088A>C | CA405403931 | NPHS1 | c.1393T>G (p.Cys465Gly) n.400T>G | |
19 | g.35848088A>G | CA405403934 | NPHS1 | c.1393T>C (p.Cys465Arg) n.400T>C | |
19 | g.35848088A>T | CA405403938 | NPHS1 | c.1393T>A (p.Cys465Ser) n.400T>A | |
19 | g.35848089C>A | CA507314317 | NPHS1 | c.1392G>T (p.Val464=) n.399G>T | |
19 | g.35848089C>G | CA507314318 | NPHS1 | c.1392G>C (p.Val464=) n.399G>C | |
19 | g.35848089C>T | CA507314319 | NPHS1 | c.1392G>A (p.Val464=) n.399G>A | |
19 | g.35848089_35848090insCCCA | CA2814253228 | NPHS1 | c.1391_1392insTGGG (p.Cys465GlyfsTer?) n.398_399insTGGG | |
19 | g.35848090A= | CA2333850450 | NPHS1 | c.1391T= (p.Val464=) n.398T= | |
19 | g.35848090A>C | CA405403942 | NPHS1 | c.1391T>G (p.Val464Gly) n.398T>G | dbSNP |
19 | g.35848090A>G | CA405403945 | NPHS1 | c.1391T>C (p.Val464Ala) n.398T>C | |
19 | g.35848090A>T | CA405403949 | NPHS1 | c.1391T>A (p.Val464Glu) n.398T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848091C>A | CA405403960 | NPHS1 | c.1390G>T (p.Val464Leu) n.397G>T | |
19 | g.35848091C>G | CA405403964 | NPHS1 | c.1390G>C (p.Val464Leu) n.397G>C | |
19 | g.35848091C>T | CA405403955 | NPHS1 | c.1390G>A (p.Val464Met) n.397G>A | gnomAD v4 |
19 | g.35848091_35848092insA | CA2814253230 | NPHS1 | c.1389_1390insT (p.Val464CysfsTer?) n.396_397insT | |
19 | g.35848092C>A | CA507314320 | NPHS1 | c.1389G>T (p.Leu463=) n.396G>T | |
19 | g.35848092C>G | CA507314321 | NPHS1 | c.1389G>C (p.Leu463=) n.396G>C | gnomAD v4 |
19 | g.35848092C>T | CA507314322 | NPHS1 | c.1389G>A (p.Leu463=) n.396G>A | gnomAD v4 |
19 | g.35848092_35848093insCAACAC | CA2814253229 | NPHS1 | c.1389_1390insTGTTGG (p.Leu463_Val464insCysTrp) n.396_397insTGTTGG | |
19 | g.35848093A>C | CA405403970 | NPHS1 | c.1388T>G (p.Leu463Arg) n.395T>G | dbSNP |
19 | g.35848093A>G | CA405403966 | NPHS1 | c.1388T>C (p.Leu463Pro) n.395T>C | |
19 | g.35848093A>T | CA405403973 | NPHS1 | c.1388T>A (p.Leu463Gln) n.395T>A | |
19 | g.35848093_35848094del | CA2814253233 | NPHS1 | c.1387_1388del (p.Leu463GlyfsTer?) n.394_395del | |
19 | g.35848094G>A | CA507314323 | NPHS1 | c.1387C>T (p.Leu463=) n.394C>T | |
19 | g.35848094G>C | CA405403977 | NPHS1 | c.1387C>G (p.Leu463Val) n.394C>G | COSMIC |
19 | g.35848094G>T | CA405403979 | NPHS1 | c.1387C>A (p.Leu463Met) n.394C>A | |
19 | g.35848095C>A | CA9390449 | NPHS1 | c.1386G>T (p.Arg462Ser) n.393G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848095C= | CA2333850451 | NPHS1 | c.1386G= (p.Arg462=) n.393G= | |
19 | g.35848095C>G | CA405403984 | NPHS1 | c.1386G>C (p.Arg462Ser) n.393G>C | |
19 | g.35848095C>T | CA507314324 | NPHS1 | c.1386G>A (p.Arg462=) n.393G>A | |
19 | g.35848095_35848096insAA | CA2814253234 | NPHS1 | c.1385_1386insTT (p.Arg462SerfsTer25) n.392_393insTT | |
19 | g.35848096C>A | CA405403990 | NPHS1 | c.1385G>T (p.Arg462Met) n.392G>T | |
19 | g.35848096C>G | CA405404004 | NPHS1 | c.1385G>C (p.Arg462Thr) n.392G>C | |
19 | g.35848096C>T | CA405404008 | NPHS1 | c.1385G>A (p.Arg462Lys) n.392G>A | COSMIC |
19 | g.35848097T>A | CA405404013 | NPHS1 | c.1384A>T (p.Arg462Trp) n.391A>T | |
19 | g.35848097T>C | CA405404016 | NPHS1 | c.1384A>G (p.Arg462Gly) n.391A>G | |
19 | g.35848097T>G | CA507314325 | NPHS1 | c.1384A>C (p.Arg462=) n.391A>C | |
19 | g.35848098C>A | CA507314326 | NPHS1 | c.1383G>T (p.Val461=) n.390G>T | gnomAD v4 |
19 | g.35848098C= | CA2333850452 | NPHS1 | c.1383G= (p.Val461=) n.390G= | |
19 | g.35848098C>G | CA507314327 | NPHS1 | c.1383G>C (p.Val461=) n.390G>C | |
19 | g.35848098C>T | CA507314328 | NPHS1 | c.1383G>A (p.Val461=) n.390G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848099A>C | CA405404025 | NPHS1 | c.1382T>G (p.Val461Gly) n.389T>G | |
19 | g.35848099A>G | CA405404026 | NPHS1 | c.1382T>C (p.Val461Ala) n.389T>C | |
19 | g.35848099A>T | CA405404027 | NPHS1 | c.1382T>A (p.Val461Glu) n.389T>A | |
19 | g.35848099dup | CA2841207820 | NPHS1 | c.1382dup (p.Arg462GlufsTer?) n.389dup | |
19 | g.35848100C>A | CA405404028 | NPHS1 | c.1381G>T (p.Val461Leu) n.388G>T | |
19 | g.35848100C>G | CA405404030 | NPHS1 | c.1381G>C (p.Val461Leu) n.388G>C | gnomAD v4 |
19 | g.35848100C>T | CA405404033 | NPHS1 | c.1381G>A (p.Val461Met) n.388G>A | gnomAD v4 |
19 | g.35848101C>A | CA507314331 | NPHS1 | c.1380G>T (p.Arg460=) n.387G>T | |
19 | g.35848101C= | CA2333850453 | NPHS1 | c.1380G= (p.Arg460=) n.387G= | |
19 | g.35848101C>G | CA507314330 | NPHS1 | c.1380G>C (p.Arg460=) n.387G>C | dbSNP gnomAD v4 |
19 | g.35848101C>T | CA507314329 | NPHS1 | c.1380G>A (p.Arg460=) n.387G>A | |
19 | g.35848102C>A | CA405404037 | NPHS1 | c.1379G>T (p.Arg460Leu) n.386G>T | |
19 | g.35848102C= | CA2333850454 | NPHS1 | c.1379G= (p.Arg460=) n.386G= | |
19 | g.35848102C>G | CA405404044 | NPHS1 | c.1379G>C (p.Arg460Pro) n.386G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848102C>T | CA250119 | NPHS1 | c.1379G>A (p.Arg460Gln) n.386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848103G>A | CA9390450 | NPHS1 | c.1378C>T (p.Arg460Trp) n.385C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848103G>C | CA405404049 | NPHS1 | c.1378C>G (p.Arg460Gly) n.385C>G | |
19 | g.35848103G= | CA2333850455 | NPHS1 | c.1378C= (p.Arg460=) n.385C= | |
19 | g.35848103G>T | CA507314332 | NPHS1 | c.1378C>A (p.Arg460=) n.385C>A | |
19 | g.35848105del | CA2695198192 | NPHS1 | c.1378del (p.Arg460GlyfsTer2) n.385del | ClinVar |
19 | g.35848104G>A | CA507314333 | NPHS1 | c.1377C>T (p.Thr459=) n.384C>T | |
19 | g.35848104G>C | CA507314334 | NPHS1 | c.1377C>G (p.Thr459=) n.384C>G | ClinVar dbSNP gnomAD v4 |
19 | g.35848104G>T | CA507314335 | NPHS1 | c.1377C>A (p.Thr459=) n.384C>A | |
19 | g.35848105G>A | CA405404057 | NPHS1 | c.1376C>T (p.Thr459Ile) n.383C>T | |
19 | g.35848105G>C | CA405404060 | NPHS1 | c.1376C>G (p.Thr459Ser) n.383C>G | |
19 | g.35848105G>T | CA405404063 | NPHS1 | c.1376C>A (p.Thr459Asn) n.383C>A | COSMIC |
19 | g.35848106T>A | CA405404068 | NPHS1 | c.1375A>T (p.Thr459Ser) n.382A>T | |
19 | g.35848106T>C | CA405404072 | NPHS1 | c.1375A>G (p.Thr459Ala) n.382A>G | |
19 | g.35848106T>G | CA405404075 | NPHS1 | c.1375A>C (p.Thr459Pro) n.382A>C | |
19 | g.35848107C>A | CA507314336 | NPHS1 | c.1374G>T (p.Gly458=) n.381G>T | |
19 | g.35848107C= | CA2333850456 | NPHS1 | c.1374G= (p.Gly458=) n.381G= | |
19 | g.35848107C>G | CA507314337 | NPHS1 | c.1374G>C (p.Gly458=) n.381G>C | |
19 | g.35848107C>T | CA507314338 | NPHS1 | c.1374G>A (p.Gly458=) n.381G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848108C>A | CA405404079 | NPHS1 | c.1373G>T (p.Gly458Val) n.380G>T | |
19 | g.35848108C= | CA2333850457 | NPHS1 | c.1373G= (p.Gly458=) n.380G= | |
19 | g.35848108C>G | CA9390451 | NPHS1 | c.1373G>C (p.Gly458Ala) n.380G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848108C>T | CA405404084 | NPHS1 | c.1373G>A (p.Gly458Glu) n.380G>A | |
19 | g.35848109C>A | CA405404097 | NPHS1 | c.1372G>T (p.Gly458Trp) n.379G>T | |
19 | g.35848109C>G | CA405404095 | NPHS1 | c.1372G>C (p.Gly458Arg) n.379G>C | |
19 | g.35848109C>T | CA405404088 | NPHS1 | c.1372G>A (p.Gly458Arg) n.379G>A | |
19 | g.35848110A>C | CA507314339 | NPHS1 | c.1371T>G (p.Ala457=) n.378T>G | |
19 | g.35848110A>G | CA507314340 | NPHS1 | c.1371T>C (p.Ala457=) n.378T>C | |
19 | g.35848110A>T | CA507314341 | NPHS1 | c.1371T>A (p.Ala457=) n.378T>A | |
19 | g.35848111G>A | CA307786705 | NPHS1 | c.1370C>T (p.Ala457Val) n.377C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848111G>C | CA405404104 | NPHS1 | c.1370C>G (p.Ala457Gly) n.377C>G | |
19 | g.35848111G= | CA2333850458 | NPHS1 | c.1370C= (p.Ala457=) n.377C= | |
19 | g.35848111G>T | CA405404107 | NPHS1 | c.1370C>A (p.Ala457Asp) n.377C>A | |
19 | g.35848111_35848112delinsGC | CA2333850459 | NPHS1 | c.1369_1370delinsGC (p.Ala457=) n.376_377delinsGC | |
19 | g.35848112C>A | CA405404110 | NPHS1 | c.1369G>T (p.Ala457Ser) n.376G>T | |
19 | g.35848112C= | CA2333850460 | NPHS1 | c.1369G= (p.Ala457=) n.376G= | |
19 | g.35848112C>G | CA405404111 | NPHS1 | c.1369G>C (p.Ala457Pro) n.376G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848112C>T | CA405404112 | NPHS1 | c.1369G>A (p.Ala457Thr) n.376G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848114del | CA16041979 | NPHS1 | c.1369del (p.Ala457LeufsTer5) n.376del | ClinVar dbSNP |
19 | g.35848113C>A | CA507314342 | NPHS1 | c.1368G>T (p.Arg456=) n.375G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35848113C= | CA2333850461 | NPHS1 | c.1368G= (p.Arg456=) n.375G= | |
19 | g.35848113C>G | CA507314343 | NPHS1 | c.1368G>C (p.Arg456=) n.375G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848113C>T | CA9390452 | NPHS1 | c.1368G>A (p.Arg456=) n.375G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848114C>A | CA405404120 | NPHS1 | c.1367G>T (p.Arg456Leu) n.374G>T | |
19 | g.35848114C= | CA2333850462 | NPHS1 | c.1367G= (p.Arg456=) n.374G= | |
19 | g.35848114C>G | CA405404124 | NPHS1 | c.1367G>C (p.Arg456Pro) n.374G>C | |
19 | g.35848114C>T | CA9390453 | NPHS1 | c.1367G>A (p.Arg456Gln) n.374G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848115G>A | CA9390454 | NPHS1 | c.1366C>T (p.Arg456Trp) n.373C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848115G>C | CA405404134 | NPHS1 | c.1366C>G (p.Arg456Gly) n.373C>G | |
19 | g.35848115G= | CA2333849905 | NPHS1 | c.1366C= (p.Arg456=) n.373C= | |
19 | g.35848115G>T | CA507314344 | NPHS1 | c.1366C>A (p.Arg456=) n.373C>A | |
19 | g.35848116G>A | CA507314347 | NPHS1 | c.1365C>T (p.Leu455=) n.372C>T | ClinVar |
19 | g.35848116G>C | CA507314345 | NPHS1 | c.1365C>G (p.Leu455=) n.372C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848116G= | CA2333849906 | NPHS1 | c.1365C= (p.Leu455=) n.372C= | |
19 | g.35848116G>T | CA507314346 | NPHS1 | c.1365C>A (p.Leu455=) n.372C>A | |
19 | g.35848117A>C | CA405404149 | NPHS1 | c.1364T>G (p.Leu455Arg) n.371T>G | |
19 | g.35848117A>G | CA405404145 | NPHS1 | c.1364T>C (p.Leu455Pro) n.371T>C | |
19 | g.35848117A>T | CA405404140 | NPHS1 | c.1364T>A (p.Leu455His) n.371T>A | |
19 | g.35848118G>A | CA405404154 | NPHS1 | c.1363C>T (p.Leu455Phe) n.370C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848118G>C | CA405404157 | NPHS1 | c.1363C>G (p.Leu455Val) n.370C>G | gnomAD v4 |
19 | g.35848118G= | CA2333849907 | NPHS1 | c.1363C= (p.Leu455=) n.370C= | |
19 | g.35848118G>T | CA405404161 | NPHS1 | c.1363C>A (p.Leu455Ile) n.370C>A | gnomAD v4 |
19 | g.35848119C>A | CA405404165 | NPHS1 | c.1362G>T (p.Lys454Asn) n.369G>T | |
19 | g.35848119C>G | CA405404175 | NPHS1 | c.1362G>C (p.Lys454Asn) n.369G>C | |
19 | g.35848119C>T | CA507314348 | NPHS1 | c.1362G>A (p.Lys454=) n.369G>A | gnomAD v4 |
19 | g.35848120T>A | CA405404177 | NPHS1 | c.1361A>T (p.Lys454Met) n.368A>T | |
19 | g.35848120T>C | CA405404181 | NPHS1 | c.1361A>G (p.Lys454Arg) n.368A>G | |
19 | g.35848120T>G | CA405404185 | NPHS1 | c.1361A>C (p.Lys454Thr) n.368A>C | |
19 | g.35848121dup | CA2838291018 | NPHS1 | c.1361dup (p.Leu455AlafsTer?) n.368dup | |
19 | g.35848121T>A | CA405404192 | NPHS1 | c.1360A>T (p.Lys454Ter) n.367A>T | |
19 | g.35848121T>C | CA405404193 | NPHS1 | c.1360A>G (p.Lys454Glu) n.367A>G | |
19 | g.35848121T>G | CA405404194 | NPHS1 | c.1360A>C (p.Lys454Gln) n.367A>C | |
19 | g.35848122C>A | CA405404195 | NPHS1 | c.1359G>T (p.Gln453His) n.366G>T | |
19 | g.35848122C>G | CA405404196 | NPHS1 | c.1359G>C (p.Gln453His) n.366G>C | gnomAD v4 |
19 | g.35848122C>T | CA507314349 | NPHS1 | c.1359G>A (p.Gln453=) n.366G>A | COSMIC |
19 | g.35848123T>A | CA405404202 | NPHS1 | c.1358A>T (p.Gln453Leu) n.365A>T | |
19 | g.35848123T>C | CA405404205 | NPHS1 | c.1358A>G (p.Gln453Arg) n.365A>G | |
19 | g.35848123T>G | CA405404200 | NPHS1 | c.1358A>C (p.Gln453Pro) n.365A>C | |
19 | g.35848124G>A | CA405404210 | NPHS1 | c.1357C>T (p.Gln453Ter) n.364C>T | |
19 | g.35848124G>C | CA405404218 | NPHS1 | c.1357C>G (p.Gln453Glu) n.364C>G | |
19 | g.35848124G>T | CA405404215 | NPHS1 | c.1357C>A (p.Gln453Lys) n.364C>A | gnomAD v4 |
19 | g.35848125G>A | CA507314351 | NPHS1 | c.1356C>T (p.Gly452=) n.363C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848125G>C | CA507314352 | NPHS1 | c.1356C>G (p.Gly452=) n.363C>G | gnomAD v4 |
19 | g.35848125G= | CA2333849908 | NPHS1 | c.1356C= (p.Gly452=) n.363C= | |
19 | g.35848125G>T | CA507314350 | NPHS1 | c.1356C>A (p.Gly452=) n.363C>A | |
19 | g.35848126C>A | CA405404223 | NPHS1 | c.1355G>T (p.Gly452Val) n.362G>T | |
19 | g.35848126C= | CA2333849909 | NPHS1 | c.1355G= (p.Gly452=) n.362G= | |
19 | g.35848126C>G | CA405404227 | NPHS1 | c.1355G>C (p.Gly452Ala) n.362G>C | |
19 | g.35848126C>T | CA405404233 | NPHS1 | c.1355G>A (p.Gly452Asp) n.362G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35848128dup | CA2841207821 | NPHS1 | c.1355dup (p.Gln453ProfsTer?) n.362dup | |
19 | g.35848127C>A | CA405404237 | NPHS1 | c.1354G>T (p.Gly452Cys) n.361G>T | |
19 | g.35848127C>G | CA405404240 | NPHS1 | c.1354G>C (p.Gly452Arg) n.361G>C | |
19 | g.35848127C>T | CA405404244 | NPHS1 | c.1354G>A (p.Gly452Ser) n.361G>A | |
19 | g.35848128C>A | CA405404247 | NPHS1 | c.1353G>T (p.Glu451Asp) n.360G>T | |
19 | g.35848128C= | CA2333849910 | NPHS1 | c.1353G= (p.Glu451=) n.360G= | |
19 | g.35848128C>G | CA405404251 | NPHS1 | c.1353G>C (p.Glu451Asp) n.360G>C | gnomAD v4 |
19 | g.35848128C>T | CA507314353 | NPHS1 | c.1353G>A (p.Glu451=) n.360G>A | dbSNP gnomAD v4 |
19 | g.35848129T>A | CA405404258 | NPHS1 | c.1352A>T (p.Glu451Val) n.359A>T | |
19 | g.35848129T>C | CA405404261 | NPHS1 | c.1352A>G (p.Glu451Gly) n.359A>G | gnomAD v4 |
19 | g.35848129T>G | CA405404265 | NPHS1 | c.1352A>C (p.Glu451Ala) n.359A>C | |
19 | g.35848130C>A | CA405404277 | NPHS1 | c.1351G>T (p.Glu451Ter) n.358G>T | |
19 | g.35848130C>G | CA405404272 | NPHS1 | c.1351G>C (p.Glu451Gln) n.358G>C | gnomAD v4 |
19 | g.35848130C>T | CA405404269 | NPHS1 | c.1351G>A (p.Glu451Lys) n.358G>A | COSMIC |
19 | g.35848131T>A | CA507314354 | NPHS1 | c.1350A>T (p.Pro450=) n.357A>T | |
19 | g.35848131T>C | CA9390455 | NPHS1 | c.1350A>G (p.Pro450=) n.357A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848131T>G | CA507314355 | NPHS1 | c.1350A>C (p.Pro450=) n.357A>C | |
19 | g.35848131T= | CA2333849911 | NPHS1 | c.1350A= (p.Pro450=) n.357A= | |
19 | g.35848132G>A | CA405404287 | NPHS1 | c.1349C>T (p.Pro450Leu) n.356C>T | gnomAD v4 |
19 | g.35848132G>C | CA405404297 | NPHS1 | c.1349C>G (p.Pro450Arg) n.356C>G | |
19 | g.35848132G>T | CA405404302 | NPHS1 | c.1349C>A (p.Pro450Gln) n.356C>A | |
19 | g.35848133G>A | CA405404307 | NPHS1 | c.1348C>T (p.Pro450Ser) n.355C>T | gnomAD v4 |
19 | g.35848133G>C | CA405404310 | NPHS1 | c.1348C>G (p.Pro450Ala) n.355C>G | gnomAD v4 |
19 | g.35848133G>T | CA405404311 | NPHS1 | c.1348C>A (p.Pro450Thr) n.355C>A | gnomAD v4 |
19 | g.35848134G>A | CA9390456 | NPHS1 | c.1347C>T (p.Pro449=) n.354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848134G>C | CA507314356 | NPHS1 | c.1347C>G (p.Pro449=) n.354C>G | |
19 | g.35848134G= | CA2333849912 | NPHS1 | c.1347C= (p.Pro449=) n.354C= | |
19 | g.35848134G>T | CA507314357 | NPHS1 | c.1347C>A (p.Pro449=) n.354C>A | COSMIC |
19 | g.35848135G>A | CA405404318 | NPHS1 | c.1346C>T (p.Pro449Leu) n.353C>T | dbSNP gnomAD v4 |
19 | g.35848135G>C | CA405404322 | NPHS1 | c.1346C>G (p.Pro449Arg) n.353C>G | |
19 | g.35848135G= | CA2333849913 | NPHS1 | c.1346C= (p.Pro449=) n.353C= | |
19 | g.35848135G>T | CA405404335 | NPHS1 | c.1346C>A (p.Pro449His) n.353C>A | |
19 | g.35848136G>A | CA405404347 | NPHS1 | c.1345C>T (p.Pro449Ser) n.352C>T | |
19 | g.35848136G>C | CA405404344 | NPHS1 | c.1345C>G (p.Pro449Ala) n.352C>G | |
19 | g.35848136G>T | CA405404340 | NPHS1 | c.1345C>A (p.Pro449Thr) n.352C>A | |
19 | g.35848137A>C | CA507314360 | NPHS1 | c.1344T>G (p.Gly448=) n.351T>G | |
19 | g.35848137A>G | CA507314358 | NPHS1 | c.1344T>C (p.Gly448=) n.351T>C | |
19 | g.35848137A>T | CA507314359 | NPHS1 | c.1344T>A (p.Gly448=) n.351T>A | |
19 | g.35848138C>A | CA405404353 | NPHS1 | c.1343G>T (p.Gly448Val) n.350G>T | dbSNP |
19 | g.35848138C= | CA2333849914 | NPHS1 | c.1343G= (p.Gly448=) n.350G= | |
19 | g.35848138C>G | CA405404355 | NPHS1 | c.1343G>C (p.Gly448Ala) n.350G>C | |
19 | g.35848138C>T | CA405404358 | NPHS1 | c.1343G>A (p.Gly448Asp) n.350G>A | |
19 | g.35848140dup | CA2841207822 | NPHS1 | c.1343dup (p.Pro449SerfsTer?) n.350dup | |
19 | g.35848139C>A | CA405404360 | NPHS1 | c.1342G>T (p.Gly448Cys) n.349G>T | |
19 | g.35848139C= | CA2333849915 | NPHS1 | c.1342G= (p.Gly448=) n.349G= | |
19 | g.35848139C>G | CA405404362 | NPHS1 | c.1342G>C (p.Gly448Arg) n.349G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848139C>T | CA405404365 | NPHS1 | c.1342G>A (p.Gly448Ser) n.349G>A | |
19 | g.35848140C>A | CA405404367 | NPHS1 | c.1341G>T (p.Glu447Asp) n.348G>T | |
19 | g.35848140C= | CA2333849916 | NPHS1 | c.1341G= (p.Glu447=) n.348G= | |
19 | g.35848140C>G | CA405404369 | NPHS1 | c.1341G>C (p.Glu447Asp) n.348G>C | |
19 | g.35848140C>T | CA9390457 | NPHS1 | c.1341G>A (p.Glu447=) n.348G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848141T>A | CA405404377 | NPHS1 | c.1340A>T (p.Glu447Val) n.347A>T | |
19 | g.35848141T>C | CA405404380 | NPHS1 | c.1340A>G (p.Glu447Gly) n.347A>G | |
19 | g.35848141T>G | CA405404386 | NPHS1 | c.1340A>C (p.Glu447Ala) n.347A>C | |
19 | g.35848142C>A | CA405404398 | NPHS1 | c.1339G>T (p.Glu447Ter) n.346G>T | |
19 | g.35848142C= | CA2333849917 | NPHS1 | c.1339G= (p.Glu447=) n.346G= | |
19 | g.35848142C>G | CA405404394 | NPHS1 | c.1339G>C (p.Glu447Gln) n.346G>C | gnomAD v4 |
19 | g.35848142C>T | CA200833 | NPHS1 | c.1339G>A (p.Glu447Lys) n.346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848142_35848143delinsCA | CA2333849918 | NPHS1 | c.1338_1339delinsTG (p.Ile446=) n.345_346delinsTG | |
19 | g.35848143A= | CA2333849919 | NPHS1 | c.1338T= (p.Ile446=) n.345T= | |
19 | g.35848143A>C | CA307786769 | NPHS1 | c.1338T>G (p.Ile446Met) n.345T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848143A>G | CA9390459 | NPHS1 | c.1338T>C (p.Ile446=) n.345T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848143A>T | CA507314361 | NPHS1 | c.1338T>A (p.Ile446=) n.345T>A | |
19 | g.35848144del | CA9390458 | NPHS1 | c.1338del (p.Ile446MetfsTer16) n.345del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35848144A= | CA2333849920 | NPHS1 | c.1337T= (p.Ile446=) n.344T= | |
19 | g.35848144A>C | CA405404424 | NPHS1 | c.1337T>G (p.Ile446Ser) n.344T>G | |
19 | g.35848144A>G | CA405404427 | NPHS1 | c.1337T>C (p.Ile446Thr) n.344T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848144A>T | CA250116 | NPHS1 | c.1337T>A (p.Ile446Asn) n.344T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848145T>A | CA405404431 | NPHS1 | c.1336A>T (p.Ile446Phe) n.343A>T | |
19 | g.35848145T>C | CA405404432 | NPHS1 | c.1336A>G (p.Ile446Val) n.343A>G | |
19 | g.35848145T>G | CA405404433 | NPHS1 | c.1336A>C (p.Ile446Leu) n.343A>C | |
19 | g.35848146C>A | CA9390460 | NPHS1 | c.1335G>T (p.Trp445Cys) n.342G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848146C= | CA2333849921 | NPHS1 | c.1335G= (p.Trp445=) n.342G= | |
19 | g.35848146C>G | CA405404437 | NPHS1 | c.1335G>C (p.Trp445Cys) n.342G>C | |
19 | g.35848146C>T | CA405404439 | NPHS1 | c.1335G>A (p.Trp445Ter) n.342G>A | |
19 | g.35848147C>A | CA405404454 | NPHS1 | c.1334G>T (p.Trp445Leu) n.341G>T | |
19 | g.35848147C= | CA2333849922 | NPHS1 | c.1334G= (p.Trp445=) n.341G= | |
19 | g.35848147C>G | CA405404452 | NPHS1 | c.1334G>C (p.Trp445Ser) n.341G>C | |
19 | g.35848147C>T | CA16041980 | NPHS1 | c.1334G>A (p.Trp445Ter) n.341G>A | ClinVar dbSNP |
19 | g.35848148A>C | CA405404459 | NPHS1 | c.1333T>G (p.Trp445Gly) n.340T>G | |
19 | g.35848148A>G | CA405404472 | NPHS1 | c.1333T>C (p.Trp445Arg) n.340T>C | |
19 | g.35848148A>T | CA405404462 | NPHS1 | c.1333T>A (p.Trp445Arg) n.340T>A | |
19 | g.35848149C>A | CA507314364 | NPHS1 | c.1332G>T (p.Leu444=) n.339G>T | |
19 | g.35848149C>G | CA507314363 | NPHS1 | c.1332G>C (p.Leu444=) n.339G>C | ClinVar |
19 | g.35848149C>T | CA507314362 | NPHS1 | c.1332G>A (p.Leu444=) n.339G>A | ClinVar dbSNP |
19 | g.35848150A>C | CA405404476 | NPHS1 | c.1331T>G (p.Leu444Arg) n.338T>G | |
19 | g.35848150A>G | CA405404481 | NPHS1 | c.1331T>C (p.Leu444Pro) n.338T>C | |
19 | g.35848150A>T | CA405404478 | NPHS1 | c.1331T>A (p.Leu444Gln) n.338T>A | |
19 | g.35848151G>A | CA507314365 | NPHS1 | c.1330C>T (p.Leu444=) n.337C>T | |
19 | g.35848151G>C | CA405404485 | NPHS1 | c.1330C>G (p.Leu444Val) n.337C>G | |
19 | g.35848151G>T | CA405404487 | NPHS1 | c.1330C>A (p.Leu444Met) n.337C>A | |
19 | g.35848152T>A | CA405404490 | NPHS1 | c.1329A>T (p.Lys443Asn) n.336A>T | |
19 | g.35848152T>C | CA507314366 | NPHS1 | c.1329A>G (p.Lys443=) n.336A>G | |
19 | g.35848152T>G | CA405404494 | NPHS1 | c.1329A>C (p.Lys443Asn) n.336A>C | |
19 | g.35848153T>A | CA405404499 | NPHS1 | c.1328A>T (p.Lys443Ile) n.335A>T | |
19 | g.35848153T>C | CA405404502 | NPHS1 | c.1328A>G (p.Lys443Arg) n.335A>G | |
19 | g.35848153T>G | CA405404506 | NPHS1 | c.1328A>C (p.Lys443Thr) n.335A>C | |
19 | g.35848154T>A | CA405404514 | NPHS1 | c.1327A>T (p.Lys443Ter) n.334A>T | |
19 | g.35848154T>C | CA405404517 | NPHS1 | c.1327A>G (p.Lys443Glu) n.334A>G | gnomAD v4 |
19 | g.35848154T>G | CA405404522 | NPHS1 | c.1327A>C (p.Lys443Gln) n.334A>C | |
19 | g.35848155C>A | CA405404527 | NPHS1 | c.1326G>T (p.Gln442His) n.333G>T | |
19 | g.35848155C>G | CA405404530 | NPHS1 | c.1326G>C (p.Gln442His) n.333G>C | |
19 | g.35848155C>T | CA507314367 | NPHS1 | c.1326G>A (p.Gln442=) n.333G>A | |
19 | g.35848156T>A | CA405404542 | NPHS1 | c.1325A>T (p.Gln442Leu) n.332A>T | |
19 | g.35848156T>C | CA405404535 | NPHS1 | c.1325A>G (p.Gln442Arg) n.332A>G | |
19 | g.35848156T>G | CA405404539 | NPHS1 | c.1325A>C (p.Gln442Pro) n.332A>C | |
19 | g.35848157G>A | CA405404547 | NPHS1 | c.1324C>T (p.Gln442Ter) n.331C>T | |
19 | g.35848157G>C | CA405404552 | NPHS1 | c.1324C>G (p.Gln442Glu) n.331C>G | dbSNP gnomAD v4 |
19 | g.35848157G= | CA2333849923 | NPHS1 | c.1324C= (p.Gln442=) n.331C= | |
19 | g.35848157G>T | CA405404558 | NPHS1 | c.1324C>A (p.Gln442Lys) n.331C>A | |
19 | g.35848158G>A | CA507314368 | NPHS1 | c.1323C>T (p.Ala441=) n.330C>T | |
19 | g.35848158G>C | CA507314370 | NPHS1 | c.1323C>G (p.Ala441=) n.330C>G | ClinVar dbSNP |
19 | g.35848158G>T | CA507314369 | NPHS1 | c.1323C>A (p.Ala441=) n.330C>A | |
19 | g.35848159G>A | CA405404565 | NPHS1 | c.1322C>T (p.Ala441Val) n.329C>T | gnomAD v4 |
19 | g.35848159G>C | CA405404567 | NPHS1 | c.1322C>G (p.Ala441Gly) n.329C>G | |
19 | g.35848159G>T | CA405404570 | NPHS1 | c.1322C>A (p.Ala441Asp) n.329C>A | |
19 | g.35848160C>A | CA405404577 | NPHS1 | c.1321G>T (p.Ala441Ser) n.328G>T | dbSNP gnomAD v4 |
19 | g.35848160C= | CA2333849924 | NPHS1 | c.1321G= (p.Ala441=) n.328G= | |
19 | g.35848160C>G | CA405404583 | NPHS1 | c.1321G>C (p.Ala441Pro) n.328G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848160C>T | CA9390461 | NPHS1 | c.1321G>A (p.Ala441Thr) n.328G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848161G>A | CA9390462 | NPHS1 | c.1320C>T (p.Pro440=) n.327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848161G>C | CA507314371 | NPHS1 | c.1320C>G (p.Pro440=) n.327C>G | |
19 | g.35848161G= | CA2333849925 | NPHS1 | c.1320C= (p.Pro440=) n.327C= | |
19 | g.35848161G>T | CA507314372 | NPHS1 | c.1320C>A (p.Pro440=) n.327C>A | |
19 | g.35848163dup | CA2841207823 | NPHS1 | c.1320dup (p.Ala441ArgfsTer7) n.327dup | |
19 | g.35848161_35848164delinsAGGC | CA2695228630 | NPHS1 | c.1317_1320delinsGCCT (p.Tyr439Ter) n.324_327delinsGCCT | |
19 | g.35848162G>A | CA405404602 | NPHS1 | c.1319C>T (p.Pro440Leu) n.326C>T | |
19 | g.35848162G>C | CA405404597 | NPHS1 | c.1319C>G (p.Pro440Arg) n.326C>G | |
19 | g.35848162G>T | CA405404593 | NPHS1 | c.1319C>A (p.Pro440His) n.326C>A | |
19 | g.35848163G>A | CA405404611 | NPHS1 | c.1318C>T (p.Pro440Ser) n.325C>T | dbSNP COSMIC |
19 | g.35848163G>C | CA405404614 | NPHS1 | c.1318C>G (p.Pro440Ala) n.325C>G | gnomAD v4 |
19 | g.35848163G= | CA2333849926 | NPHS1 | c.1318C= (p.Pro440=) n.325C= | |
19 | g.35848163G>T | CA405404616 | NPHS1 | c.1318C>A (p.Pro440Thr) n.325C>A | |
19 | g.35848164A= | CA2333849927 | NPHS1 | c.1317T= (p.Tyr439=) n.324T= | |
19 | g.35848164A>C | CA405404620 | NPHS1 | c.1317T>G (p.Tyr439Ter) n.324T>G | |
19 | g.35848164A>G | CA507314373 | NPHS1 | c.1317T>C (p.Tyr439=) n.324T>C | |
19 | g.35848164A>T | CA307786799 | NPHS1 | c.1317T>A (p.Tyr439Ter) n.324T>A | dbSNP gnomAD v4 |
19 | g.35848165T>A | CA405404628 | NPHS1 | c.1316A>T (p.Tyr439Phe) n.323A>T | |
19 | g.35848165T>C | CA405404631 | NPHS1 | c.1316A>G (p.Tyr439Cys) n.323A>G | dbSNP |
19 | g.35848165T>G | CA405404637 | NPHS1 | c.1316A>C (p.Tyr439Ser) n.323A>C | |
19 | g.35848165T= | CA2333849928 | NPHS1 | c.1316A= (p.Tyr439=) n.323A= | |
19 | g.35848166C>A | CA405404640 | NPHS1 | c.1316-1G>T (n.1316-1G>T) n.323-1G>T | gnomAD v4 |
19 | g.35848166C= | CA2333849931 | NPHS1 | c.1316-1G= (n.1316-1G=) n.323-1G= | |
19 | g.35848166C>G | CA405404643 | NPHS1 | c.1316-1G>C (n.1316-1G>C) n.323-1G>C | ClinVar dbSNP |
19 | g.35848166C>T | CA405404646 | NPHS1 | c.1316-1G>A (n.1316-1G>A) n.323-1G>A | |
19 | g.35848167T>A | CA405404660 | NPHS1 | c.1316-2A>T (n.1316-2A>T) n.323-2A>T | |
19 | g.35848167T>C | CA405404655 | NPHS1 | c.1316-2A>G (n.1316-2A>G) n.323-2A>G | ClinVar dbSNP |
19 | g.35848167T>G | CA405404650 | NPHS1 | c.1316-2A>C (n.1316-2A>C) n.323-2A>C | |
19 | g.35848167T= | CA2333849932 | NPHS1 | c.1316-2A= (n.1316-2A=) n.323-2A= | |
19 | g.35848168G>A | CA2841207825 | NPHS1 | c.1316-3C>T (n.1316-3C>T) n.323-3C>T | |
19 | g.35848170_35848173del | CA2841207824 | NPHS1 | c.1316-6_1316-3del (n.1316-6_1316-3del) n.323-6_323-3del | |
19 | g.35848169G= | CA2333849933 | NPHS1 | c.1316-4C= (n.1316-4C=) n.323-4C= | |
19 | g.35848169G>T | CA633060959 | NPHS1 | c.1316-4C>A (n.1316-4C>A) n.323-4C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848170C>A | CA307786800 | NPHS1 | c.1316-5G>T (n.1316-5G>T) n.323-5G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35848170C= | CA2333849934 | NPHS1 | c.1316-5G= (n.1316-5G=) n.323-5G= | |
19 | g.35848170C>G | CA9390464 | NPHS1 | c.1316-5G>C (n.1316-5G>C) n.323-5G>C | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.35848170C>T | CA9390463 | NPHS1 | c.1316-5G>A (n.1316-5G>A) n.323-5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848171G>A | CA9390465 | NPHS1 | c.1316-6C>T (n.1316-6C>T) n.323-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848171G>C | CA2576758933 | NPHS1 | c.1316-6C>G (n.1316-6C>G) n.323-6C>G | |
19 | g.35848171G= | CA2333849935 | NPHS1 | c.1316-6C= (n.1316-6C=) n.323-6C= | |
19 | g.35848171G>T | CA2584603399 | NPHS1 | c.1316-6C>A (n.1316-6C>A) n.323-6C>A | dbSNP gnomAD v4 |