UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848013_35848016delinsACCC | CA2333850411 | NPHS1 | c.1440+25_1440+28delinsGGGT (n.1440+25_1440+28delinsGGGT) n.472_475delinsGGGT | |
| 19 | g.35848018del | CA2584603766 | NPHS1 | c.1440+27del (n.1440+27del) n.474del | gnomAD v4 |
| 19 | g.35848016_35848018del | CA9390430 | NPHS1 | c.1440+25_1440+27del (n.1440+25_1440+27del) n.472_474del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848015C= | CA2333850413 | NPHS1 | c.1440+26G= (n.1440+26G=) n.473G= | |
| 19 | g.35848015C>G | CA9390431 | NPHS1 | c.1440+26G>C (n.1440+26G>C) n.473G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848015C>T | CA9390432 | NPHS1 | c.1440+26G>A (n.1440+26G>A) n.473G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.35848016C>A | CA9390433 | NPHS1 | c.1440+25G>T (n.1440+25G>T) n.472G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848016C= | CA2333850414 | NPHS1 | c.1440+25G= (n.1440+25G=) n.472G= | |
| 19 | g.35848017C= | CA2333850415 | NPHS1 | c.1440+24G= (n.1440+24G=) n.471G= | |
| 19 | g.35848017C>T | CA307786620 | NPHS1 | c.1440+24G>A (n.1440+24G>A) n.471G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848018C= | CA2333850416 | NPHS1 | c.1440+23G= (n.1440+23G=) n.470G= | |
| 19 | g.35848018C>T | CA9390434 | NPHS1 | c.1440+23G>A (n.1440+23G>A) n.470G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848019A= | CA2333850417 | NPHS1 | c.1440+22T= (n.1440+22T=) n.469T= | |
| 19 | g.35848019A>C | CA633060958 | NPHS1 | c.1440+22T>G (n.1440+22T>G) n.469T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848019A>G | CA2584603767 | NPHS1 | c.1440+22T>C (n.1440+22T>C) n.469T>C | gnomAD v4 |
| 19 | g.35848019A>T | CA2584603768 | NPHS1 | c.1440+22T>A (n.1440+22T>A) n.469T>A | gnomAD v4 |
| 19 | g.35848020T>C | CA9390435 | NPHS1 | c.1440+21A>G (n.1440+21A>G) n.468A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848020T= | CA2333850418 | NPHS1 | c.1440+21A= (n.1440+21A=) n.468A= | |
| 19 | g.35848021A>G | CA2584603769 | NPHS1 | c.1440+20T>C (n.1440+20T>C) n.467T>C | gnomAD v4 |
| 19 | g.35848022G>A | CA9390436 | NPHS1 | c.1440+19C>T (n.1440+19C>T) n.466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848022G= | CA2333850419 | NPHS1 | c.1440+19C= (n.1440+19C=) n.466C= | |
| 19 | g.35848022G>T | CA2584603770 | NPHS1 | c.1440+19C>A (n.1440+19C>A) n.466C>A | gnomAD v4 |
| 19 | g.35848023C>A | CA2584603771 | NPHS1 | c.1440+18G>T (n.1440+18G>T) n.465G>T | gnomAD v4 |
| 19 | g.35848023C= | CA2333850420 | NPHS1 | c.1440+18G= (n.1440+18G=) n.465G= | |
| 19 | g.35848023C>T | CA995486536 | NPHS1 | c.1440+18G>A (n.1440+18G>A) n.465G>A | dbSNP |
| 19 | g.35848024C>T | CA2584603772 | NPHS1 | c.1440+17G>A (n.1440+17G>A) n.464G>A | dbSNP gnomAD v4 |
| 19 | g.35848025C>T | CA2584603773 | NPHS1 | c.1440+16G>A (n.1440+16G>A) n.463G>A | gnomAD v4 |
| 19 | g.35848026T>G | CA2584603774 | NPHS1 | c.1440+15A>C (n.1440+15A>C) n.462A>C | gnomAD v4 |
| 19 | g.35848026_35848027delinsTG | CA2333850421 | NPHS1 | c.1440+14_1440+15delinsCA (n.1440+14_1440+15delinsCA) n.461_462delinsCA | |
| 19 | g.35848026_35848028dup | CA2697556474 | NPHS1 | c.1440+13_1440+15dup (n.1440+13_1440+15dup) n.460_462dup | ClinVar |
| 19 | g.35848027G>T | CA2576758928 | NPHS1 | c.1440+14C>A (n.1440+14C>A) n.461C>A | |
| 19 | g.35848028del | CA9390437 | NPHS1 | c.1440+14del (n.1440+14del) n.461del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848028G>T | CA2584603775 | NPHS1 | c.1440+13C>A (n.1440+13C>A) n.460C>A | gnomAD v4 |
| 19 | g.35848029C>A | CA2584603776 | NPHS1 | c.1440+12G>T (n.1440+12G>T) n.459G>T | gnomAD v4 |
| 19 | g.35848029C= | CA2333850422 | NPHS1 | c.1440+12G= (n.1440+12G=) n.459G= | |
| 19 | g.35848029C>T | CA9390438 | NPHS1 | c.1440+12G>A (n.1440+12G>A) n.459G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848030G>A | CA9390439 | NPHS1 | c.1440+11C>T (n.1440+11C>T) n.458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848030G= | CA2333850423 | NPHS1 | c.1440+11C= (n.1440+11C=) n.458C= | |
| 19 | g.35848030G>T | CA2584603777 | NPHS1 | c.1440+11C>A (n.1440+11C>A) n.458C>A | gnomAD v4 |
| 19 | g.35848031T>G | CA2697556475 | NPHS1 | c.1440+10A>C (n.1440+10A>C) n.457A>C | ClinVar |
| 19 | g.35848032G>A | CA9390440 | NPHS1 | c.1440+9C>T (n.1440+9C>T) n.456C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848032G= | CA2333850424 | NPHS1 | c.1440+9C= (n.1440+9C=) n.456C= | |
| 19 | g.35848033G>A | CA2584603778 | NPHS1 | c.1440+8C>T (n.1440+8C>T) n.455C>T | ClinVar gnomAD v4 |
| 19 | g.35848033G>T | CA2584603779 | NPHS1 | c.1440+8C>A (n.1440+8C>A) n.455C>A | gnomAD v4 |
| 19 | g.35848035A>G | CA2584603780 | NPHS1 | c.1440+6T>C (n.1440+6T>C) n.453T>C | gnomAD v4 |
| 19 | g.35848036C= | CA2333850425 | NPHS1 | c.1440+5G= (n.1440+5G=) n.452G= | |
| 19 | g.35848036C>G | CA2576758929 | NPHS1 | c.1440+5G>C (n.1440+5G>C) n.452G>C | |
| 19 | g.35848036C>T | CA995486542 | NPHS1 | c.1440+5G>A (n.1440+5G>A) n.452G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35848037C>T | CA2576758930 | NPHS1 | c.1440+4G>A (n.1440+4G>A) n.451G>A | |
| 19 | g.35848038A>G | CA2576758931 | NPHS1 | c.1440+3T>C (n.1440+3T>C) n.450T>C | |
| 19 | g.35848039A= | CA2333850426 | NPHS1 | c.1440+2T= (n.1440+2T=) n.449T= | |
| 19 | g.35848039A>C | CA405403470 | NPHS1 | c.1440+2T>G (n.1440+2T>G) n.449T>G | |
| 19 | g.35848039A>G | CA405403468 | NPHS1 | c.1440+2T>C (n.1440+2T>C) n.449T>C | ClinVar dbSNP |
| 19 | g.35848039A>T | CA405403472 | NPHS1 | c.1440+2T>A (n.1440+2T>A) n.449T>A | |
| 19 | g.35848040C>A | CA405403476 | NPHS1 | c.1440+1G>T (n.1440+1G>T) n.448G>T | |
| 19 | g.35848040C= | CA2333850427 | NPHS1 | c.1440+1G= (n.1440+1G=) n.448G= | |
| 19 | g.35848040C>G | CA9390441 | NPHS1 | c.1440+1G>C (n.1440+1G>C) n.448G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848040C>T | CA405403477 | NPHS1 | c.1440+1G>A (n.1440+1G>A) n.448G>A | ClinVar gnomAD v4 |
| 19 | g.35848041C>A | CA405403479 | NPHS1 | c.1440G>T (p.Lys480Asn) n.447G>T | |
| 19 | g.35848041C>G | CA405403481 | NPHS1 | c.1440G>C (p.Lys480Asn) n.447G>C | |
| 19 | g.35848041C>T | CA507314290 | NPHS1 | c.1440G>A (p.Lys480=) n.447G>A | |
| 19 | g.35848042T>A | CA405403484 | NPHS1 | c.1439A>T (p.Lys480Met) n.446A>T | |
| 19 | g.35848042T>C | CA405403486 | NPHS1 | c.1439A>G (p.Lys480Arg) n.446A>G | |
| 19 | g.35848042T>G | CA405403490 | NPHS1 | c.1439A>C (p.Lys480Thr) n.446A>C | |
| 19 | g.35848043T>A | CA405403494 | NPHS1 | c.1438A>T (p.Lys480Ter) n.445A>T | |
| 19 | g.35848043T>C | CA405403496 | NPHS1 | c.1438A>G (p.Lys480Glu) n.445A>G | |
| 19 | g.35848043T>G | CA405403498 | NPHS1 | c.1438A>C (p.Lys480Gln) n.445A>C | |
| 19 | g.35848044G>A | CA507314291 | NPHS1 | c.1437C>T (p.Tyr479=) n.444C>T | |
| 19 | g.35848044G>C | CA405403504 | NPHS1 | c.1437C>G (p.Tyr479Ter) n.444C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.35848044G= | CA2333850428 | NPHS1 | c.1437C= (p.Tyr479=) n.444C= | |
| 19 | g.35848044G>T | CA405403507 | NPHS1 | c.1437C>A (p.Tyr479Ter) n.444C>A | |
| 19 | g.35848045T>A | CA405403510 | NPHS1 | c.1436A>T (p.Tyr479Phe) n.443A>T | |
| 19 | g.35848045T>C | CA405403511 | NPHS1 | c.1436A>G (p.Tyr479Cys) n.443A>G | gnomAD v4 |
| 19 | g.35848045T>G | CA405403514 | NPHS1 | c.1436A>C (p.Tyr479Ser) n.443A>C | |
| 19 | g.35848046A>C | CA405403517 | NPHS1 | c.1435T>G (p.Tyr479Asp) n.442T>G | |
| 19 | g.35848046A>G | CA405403521 | NPHS1 | c.1435T>C (p.Tyr479His) n.442T>C | |
| 19 | g.35848046A>T | CA405403519 | NPHS1 | c.1435T>A (p.Tyr479Asn) n.442T>A | |
| 19 | g.35848047C>A | CA405403524 | NPHS1 | c.1434G>T (p.Trp478Cys) n.441G>T | |
| 19 | g.35848047C= | CA2333850429 | NPHS1 | c.1434G= (p.Trp478=) n.441G= | |
| 19 | g.35848047C>G | CA405403528 | NPHS1 | c.1434G>C (p.Trp478Cys) n.441G>C | dbSNP gnomAD v2 |
| 19 | g.35848047C>T | CA405403530 | NPHS1 | c.1434G>A (p.Trp478Ter) n.441G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.35848048C>A | CA405403535 | NPHS1 | c.1433G>T (p.Trp478Leu) n.440G>T | |
| 19 | g.35848048C= | CA2333850430 | NPHS1 | c.1433G= (p.Trp478=) n.440G= | |
| 19 | g.35848048C>G | CA405403537 | NPHS1 | c.1433G>C (p.Trp478Ser) n.440G>C | |
| 19 | g.35848048C>T | CA405403541 | NPHS1 | c.1433G>A (p.Trp478Ter) n.440G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35848049A>C | CA405403544 | NPHS1 | c.1432T>G (p.Trp478Gly) n.439T>G | gnomAD v4 |
| 19 | g.35848049A>G | CA405403546 | NPHS1 | c.1432T>C (p.Trp478Arg) n.439T>C | |
| 19 | g.35848049A>T | CA405403549 | NPHS1 | c.1432T>A (p.Trp478Arg) n.439T>A | |
| 19 | g.35848050C>A | CA405403560 | NPHS1 | c.1431G>T (p.Met477Ile) n.438G>T | |
| 19 | g.35848050C>G | CA405403556 | NPHS1 | c.1431G>C (p.Met477Ile) n.438G>C | |
| 19 | g.35848050C>T | CA405403554 | NPHS1 | c.1431G>A (p.Met477Ile) n.438G>A | |
| 19 | g.35848051A= | CA2333850431 | NPHS1 | c.1430T= (p.Met477=) n.437T= | |
| 19 | g.35848051A>C | CA405403566 | NPHS1 | c.1430T>G (p.Met477Arg) n.437T>G | |
| 19 | g.35848051A>G | CA405403569 | NPHS1 | c.1430T>C (p.Met477Thr) n.437T>C | gnomAD v4 |
| 19 | g.35848051A>T | CA405403573 | NPHS1 | c.1430T>A (p.Met477Lys) n.437T>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35848052T>A | CA405403576 | NPHS1 | c.1429A>T (p.Met477Leu) n.436A>T | |
| 19 | g.35848052T>C | CA405403580 | NPHS1 | c.1429A>G (p.Met477Val) n.436A>G | |
| 19 | g.35848052T>G | CA405403583 | NPHS1 | c.1429A>C (p.Met477Leu) n.436A>C | |
| 19 | g.35848053G>A | CA507314292 | NPHS1 | c.1428C>T (p.Leu476=) n.435C>T | gnomAD v4 |
| 19 | g.35848053G>C | CA507314294 | NPHS1 | c.1428C>G (p.Leu476=) n.435C>G | |
| 19 | g.35848053G>T | CA507314293 | NPHS1 | c.1428C>A (p.Leu476=) n.435C>A | gnomAD v4 |
| 19 | g.35848054A= | CA2333850432 | NPHS1 | c.1427T= (p.Leu476=) n.434T= | |
| 19 | g.35848054A>C | CA405403588 | NPHS1 | c.1427T>G (p.Leu476Arg) n.434T>G | |
| 19 | g.35848054A>G | CA405403591 | NPHS1 | c.1427T>C (p.Leu476Pro) n.434T>C | dbSNP |
| 19 | g.35848054A>T | CA405403594 | NPHS1 | c.1427T>A (p.Leu476His) n.434T>A | |
| 19 | g.35848054_35848058del | CA2695228628 | NPHS1 | c.1423_1427del (p.Ser475HisfsTer?) n.430_434del | |
| 19 | g.35848055G>A | CA405403598 | NPHS1 | c.1426C>T (p.Leu476Phe) n.433C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35848055G>C | CA405403601 | NPHS1 | c.1426C>G (p.Leu476Val) n.433C>G | |
| 19 | g.35848055G= | CA2333850433 | NPHS1 | c.1426C= (p.Leu476=) n.433C= | |
| 19 | g.35848055G>T | CA405403605 | NPHS1 | c.1426C>A (p.Leu476Ile) n.433C>A | |
| 19 | g.35848057del | CA2576758932 | NPHS1 | c.1426del (p.Leu476SerfsTer10) n.433del | |
| 19 | g.35848056G>A | CA507314295 | NPHS1 | c.1425C>T (p.Ser475=) n.432C>T | |
| 19 | g.35848056G>C | CA507314296 | NPHS1 | c.1425C>G (p.Ser475=) n.432C>G | |
| 19 | g.35848056G= | CA2333850434 | NPHS1 | c.1425C= (p.Ser475=) n.432C= | |
| 19 | g.35848056G>T | CA507314297 | NPHS1 | c.1425C>A (p.Ser475=) n.432C>A | dbSNP |
| 19 | g.35848057G>A | CA405403614 | NPHS1 | c.1424C>T (p.Ser475Phe) n.431C>T | |
| 19 | g.35848057G>C | CA9390442 | NPHS1 | c.1424C>G (p.Ser475Cys) n.431C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848057G= | CA2333850435 | NPHS1 | c.1424C= (p.Ser475=) n.431C= | |
| 19 | g.35848057G>T | CA405403612 | NPHS1 | c.1424C>A (p.Ser475Tyr) n.431C>A | |
| 19 | g.35848058A>C | CA405403621 | NPHS1 | c.1423T>G (p.Ser475Ala) n.430T>G | gnomAD v4 |
| 19 | g.35848058A>G | CA405403623 | NPHS1 | c.1423T>C (p.Ser475Pro) n.430T>C | gnomAD v4 |
| 19 | g.35848058A>T | CA405403626 | NPHS1 | c.1423T>A (p.Ser475Thr) n.430T>A | |
| 19 | g.35848059G>A | CA507314298 | NPHS1 | c.1422C>T (p.Pro474=) n.429C>T | |
| 19 | g.35848059G>C | CA9390443 | NPHS1 | c.1422C>G (p.Pro474=) n.429C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848059G= | CA2333850436 | NPHS1 | c.1422C= (p.Pro474=) n.429C= | |
| 19 | g.35848059G>T | CA507314299 | NPHS1 | c.1422C>A (p.Pro474=) n.429C>A | |
| 19 | g.35848061del | CA2739276688 | NPHS1 | c.1422del (p.Ser475ProfsTer11) n.429del | ClinVar |
| 19 | g.35848060G>A | CA405403631 | NPHS1 | c.1421C>T (p.Pro474Leu) n.428C>T | gnomAD v4 |
| 19 | g.35848060G>C | CA405403636 | NPHS1 | c.1421C>G (p.Pro474Arg) n.428C>G | |
| 19 | g.35848060G>T | CA405403639 | NPHS1 | c.1421C>A (p.Pro474His) n.428C>A | |
| 19 | g.35848061G>A | CA405403643 | NPHS1 | c.1420C>T (p.Pro474Ser) n.427C>T | |
| 19 | g.35848061G>C | CA405403646 | NPHS1 | c.1420C>G (p.Pro474Ala) n.427C>G | |
| 19 | g.35848061G>T | CA405403649 | NPHS1 | c.1420C>A (p.Pro474Thr) n.427C>A | |
| 19 | g.35848062C>A | CA9390445 | NPHS1 | c.1419G>T (p.Glu473Asp) n.426G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848062C= | CA2333850437 | NPHS1 | c.1419G= (p.Glu473=) n.426G= | |
| 19 | g.35848062C>G | CA9390444 | NPHS1 | c.1419G>C (p.Glu473Asp) n.426G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848062C>T | CA507314300 | NPHS1 | c.1419G>A (p.Glu473=) n.426G>A | dbSNP |
| 19 | g.35848063T>A | CA405403662 | NPHS1 | c.1418A>T (p.Glu473Val) n.425A>T | |
| 19 | g.35848063T>C | CA405403665 | NPHS1 | c.1418A>G (p.Glu473Gly) n.425A>G | |
| 19 | g.35848063T>G | CA405403658 | NPHS1 | c.1418A>C (p.Glu473Ala) n.425A>C | |
| 19 | g.35848064C>A | CA405403676 | NPHS1 | c.1417G>T (p.Glu473Ter) n.424G>T | dbSNP |
| 19 | g.35848064C>G | CA405403670 | NPHS1 | c.1417G>C (p.Glu473Gln) n.424G>C | |
| 19 | g.35848064C>T | CA405403673 | NPHS1 | c.1417G>A (p.Glu473Lys) n.424G>A | |
| 19 | g.35848065T>A | CA507314301 | NPHS1 | c.1416A>T (p.Pro472=) n.423A>T | |
| 19 | g.35848065T>C | CA9390446 | NPHS1 | c.1416A>G (p.Pro472=) n.423A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848065T>G | CA507314302 | NPHS1 | c.1416A>C (p.Pro472=) n.423A>C | |
| 19 | g.35848065T= | CA2333850438 | NPHS1 | c.1416A= (p.Pro472=) n.423A= | |
| 19 | g.35848066G>A | CA405403684 | NPHS1 | c.1415C>T (p.Pro472Leu) n.422C>T | |
| 19 | g.35848066G>C | CA405403687 | NPHS1 | c.1415C>G (p.Pro472Arg) n.422C>G | |
| 19 | g.35848066G>T | CA405403690 | NPHS1 | c.1415C>A (p.Pro472Gln) n.422C>A | gnomAD v4 |
| 19 | g.35848066_35848067delinsT | CA2580096871 | NPHS1 | c.1414_1415delinsA (p.Pro472LysfsTer14) n.421_422delinsA | ClinVar |
| 19 | g.35848067G>A | CA405403702 | NPHS1 | c.1414C>T (p.Pro472Ser) n.421C>T | |
| 19 | g.35848067G>C | CA405403694 | NPHS1 | c.1414C>G (p.Pro472Ala) n.421C>G | |
| 19 | g.35848067G= | CA2333850439 | NPHS1 | c.1414C= (p.Pro472=) n.421C= | |
| 19 | g.35848067G>T | CA405403697 | NPHS1 | c.1414C>A (p.Pro472Thr) n.421C>A | dbSNP gnomAD v4 |
| 19 | g.35848068G>A | CA507314303 | NPHS1 | c.1413C>T (p.Asn471=) n.420C>T | gnomAD v4 |
| 19 | g.35848068G>C | CA405403707 | NPHS1 | c.1413C>G (p.Asn471Lys) n.420C>G | |
| 19 | g.35848068G= | CA2333850440 | NPHS1 | c.1413C= (p.Asn471=) n.420C= | |
| 19 | g.35848068G>T | CA405403711 | NPHS1 | c.1413C>A (p.Asn471Lys) n.420C>A | dbSNP |
| 19 | g.35848069T>A | CA405403715 | NPHS1 | c.1412A>T (p.Asn471Ile) n.419A>T | |
| 19 | g.35848069T>C | CA405403726 | NPHS1 | c.1412A>G (p.Asn471Ser) n.419A>G | |
| 19 | g.35848069T>G | CA405403729 | NPHS1 | c.1412A>C (p.Asn471Thr) n.419A>C | |
| 19 | g.35848070T>A | CA405403734 | NPHS1 | c.1411A>T (p.Asn471Tyr) n.418A>T | |
| 19 | g.35848070T>C | CA405403743 | NPHS1 | c.1411A>G (p.Asn471Asp) n.418A>G | gnomAD v4 |
| 19 | g.35848070T>G | CA405403737 | NPHS1 | c.1411A>C (p.Asn471His) n.418A>C | |
| 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.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.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.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 |