| 19 | g.35850894G>T | CA2584604349 | NPHS1 | c.526+67C>A (n.526+67C>A)
| gnomAD v4 |
| 19 | g.35850895A>G | CA2584604350 | NPHS1 | c.526+66T>C (n.526+66T>C)
| gnomAD v4 |
| 19 | g.35850896A>G | CA2584604352 | NPHS1 | c.526+65T>C (n.526+65T>C)
| gnomAD v4 |
| 19 | g.35850902_35850903del | CA2584604351 | NPHS1 | c.526+64_526+65del (n.526+64_526+65del)
| gnomAD v4 |
| 19 | g.35850897C>T | CA2584604353 | NPHS1 | c.526+64G>A (n.526+64G>A)
| gnomAD v4 |
| 19 | g.35850898A= | CA2333851570 | NPHS1 | c.526+63T= (n.526+63T=)
| |
| 19 | g.35850898A>T | CA881821619 | NPHS1 | c.526+63T>A (n.526+63T>A)
| dbSNP |
| 19 | g.35850899C>A | CA2584604354 | NPHS1 | c.526+62G>T (n.526+62G>T)
| gnomAD v4 |
| 19 | g.35850900A>G | CA2584604355 | NPHS1 | c.526+61T>C (n.526+61T>C)
| gnomAD v4 |
| 19 | g.35850901C= | CA2333851571 | NPHS1 | c.526+60G= (n.526+60G=)
| |
| 19 | g.35850901C>G | CA307790047 | NPHS1 | c.526+60G>C (n.526+60G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850901C>T | CA2584604356 | NPHS1 | c.526+60G>A (n.526+60G>A)
| gnomAD v4 |
| 19 | g.35850902A>G | CA2584604357 | NPHS1 | c.526+59T>C (n.526+59T>C)
| gnomAD v4 |
| 19 | g.35850903C>A | CA2576759053 | NPHS1 | c.526+58G>T (n.526+58G>T)
| |
| 19 | g.35850903C= | CA2333851573 | NPHS1 | c.526+58G= (n.526+58G=)
| |
| 19 | g.35850903C>T | CA2333851572 | NPHS1 | c.526+58G>A (n.526+58G>A)
| dbSNP |
| 19 | g.35850904C>A | CA2576759054 | NPHS1 | c.526+57G>T (n.526+57G>T)
| gnomAD v4 |
| 19 | g.35850904C= | CA2333851574 | NPHS1 | c.526+57G= (n.526+57G=)
| |
| 19 | g.35850904C>G | CA995487756 | NPHS1 | c.526+57G>C (n.526+57G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850904C>T | CA881821625 | NPHS1 | c.526+57G>A (n.526+57G>A)
| dbSNP gnomAD v4 |
| 19 | g.35850905C>T | CA2584604358 | NPHS1 | c.526+56G>A (n.526+56G>A)
| gnomAD v4 |
| 19 | g.35850907_35850908insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT | CA2584604359 | NPHS1 | c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA (n.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA)
| gnomAD v4 |
| 19 | g.35850907T>C | CA2584604360 | NPHS1 | c.526+54A>G (n.526+54A>G)
| gnomAD v4 |
| 19 | g.35850907T>G | CA2576759055 | NPHS1 | c.526+54A>C (n.526+54A>C)
| |
| 19 | g.35850908C>T | CA2584604362 | NPHS1 | c.526+53G>A (n.526+53G>A)
| gnomAD v4 |
| 19 | g.35850910del | CA2584604361 | NPHS1 | c.526+53del (n.526+53del)
| gnomAD v4 |
| 19 | g.35850909C>T | CA2584604363 | NPHS1 | c.526+52G>A (n.526+52G>A)
| gnomAD v4 |
| 19 | g.35850910C>A | CA2584604364 | NPHS1 | c.526+51G>T (n.526+51G>T)
| gnomAD v4 |
| 19 | g.35850910C= | CA2333851575 | NPHS1 | c.526+51G= (n.526+51G=)
| |
| 19 | g.35850910C>G | CA2333851576 | NPHS1 | c.526+51G>C (n.526+51G>C)
| dbSNP |
| 19 | g.35850910C>T | CA632776798 | NPHS1 | c.526+51G>A (n.526+51G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850912C= | CA2333851577 | NPHS1 | c.526+49G= (n.526+49G=)
| |
| 19 | g.35850912C>T | CA307790056 | NPHS1 | c.526+49G>A (n.526+49G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850912_35850919del | CA2576759056 | NPHS1 | c.526+42_526+49del (n.526+42_526+49del)
| |
| 19 | g.35850913T>G | CA2584604365 | NPHS1 | c.526+48A>C (n.526+48A>C)
| gnomAD v4 |
| 19 | g.35850914C>A | CA2576759057 | NPHS1 | c.526+47G>T (n.526+47G>T)
| gnomAD v4 |
| 19 | g.35850914C= | CA2333851578 | NPHS1 | c.526+47G= (n.526+47G=)
| |
| 19 | g.35850914C>T | CA307790062 | NPHS1 | c.526+47G>A (n.526+47G>A)
| dbSNP |
| 19 | g.35850916A>G | CA2584604366 | NPHS1 | c.526+45T>C (n.526+45T>C)
| gnomAD v4 |
| 19 | g.35850916A>T | CA2576759058 | NPHS1 | c.526+45T>A (n.526+45T>A)
| |
| 19 | g.35850917G>A | CA995487763 | NPHS1 | c.526+44C>T (n.526+44C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850917G= | CA2333851579 | NPHS1 | c.526+44C= (n.526+44C=)
| |
| 19 | g.35850917G>T | CA2584604367 | NPHS1 | c.526+44C>A (n.526+44C>A)
| gnomAD v4 |
| 19 | g.35850918A>G | CA2584604368 | NPHS1 | c.526+43T>C (n.526+43T>C)
| gnomAD v4 |
| 19 | g.35850919G>A | CA2584604369 | NPHS1 | c.526+42C>T (n.526+42C>T)
| gnomAD v4 |
| 19 | g.35850920G>A | CA2584604370 | NPHS1 | c.526+41C>T (n.526+41C>T)
| gnomAD v4 |
| 19 | g.35850920G>T | CA2584604371 | NPHS1 | c.526+41C>A (n.526+41C>A)
| gnomAD v4 |
| 19 | g.35850921C= | CA2333851580 | NPHS1 | c.526+40G= (n.526+40G=)
| |
| 19 | g.35850921C>T | CA632776799 | NPHS1 | c.526+40G>A (n.526+40G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850924C>A | CA2584604372 | NPHS1 | c.526+37G>T (n.526+37G>T)
| gnomAD v4 |
| 19 | g.35850928C>T | CA2584604373 | NPHS1 | c.526+33G>A (n.526+33G>A)
| gnomAD v4 |
| 19 | g.35850930G>A | CA2814252831 | NPHS1 | c.526+31C>T (n.526+31C>T)
| |
| 19 | g.35850930G= | CA2333851581 | NPHS1 | c.526+31C= (n.526+31C=)
| |
| 19 | g.35850930G>T | CA2584604374 | NPHS1 | c.526+31C>A (n.526+31C>A)
| gnomAD v4 |
| 19 | g.35850931C>A | CA2584604376 | NPHS1 | c.526+30G>T (n.526+30G>T)
| gnomAD v4 |
| 19 | g.35850931C= | CA2333851582 | NPHS1 | c.526+30G= (n.526+30G=)
| |
| 19 | g.35850931C>T | CA307790068 | NPHS1 | c.526+30G>A (n.526+30G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850935dup | CA632776800 | NPHS1 | c.526+30dup (n.526+30dup)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850935del | CA2584604375 | NPHS1 | c.526+30del (n.526+30del)
| gnomAD v4 |
| 19 | g.35850932C>T | CA2576759059 | NPHS1 | c.526+29G>A (n.526+29G>A)
| gnomAD v4 |
| 19 | g.35850933C>A | CA2584604377 | NPHS1 | c.526+28G>T (n.526+28G>T)
| gnomAD v4 |
| 19 | g.35850933C= | CA2333851583 | NPHS1 | c.526+28G= (n.526+28G=)
| |
| 19 | g.35850933C>T | CA9390781 | NPHS1 | c.526+28G>A (n.526+28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850934C= | CA2333851584 | NPHS1 | c.526+27G= (n.526+27G=)
| |
| 19 | g.35850934C>T | CA632776801 | NPHS1 | c.526+27G>A (n.526+27G>A)
| dbSNP gnomAD v2 |
| 19 | g.35850935C>A | CA2584604378 | NPHS1 | c.526+26G>T (n.526+26G>T)
| gnomAD v4 |
| 19 | g.35850935C= | CA2333851585 | NPHS1 | c.526+26G= (n.526+26G=)
| |
| 19 | g.35850935C>T | CA9390782 | NPHS1 | c.526+26G>A (n.526+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850935_35850936delinsCT | CA2333851586 | NPHS1 | c.526+25_526+26delinsAG (n.526+25_526+26delinsAG)
| |
| 19 | g.35850936del | CA881821633 | NPHS1 | c.526+25del (n.526+25del)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850936T>C | CA2584604379 | NPHS1 | c.526+25A>G (n.526+25A>G)
| gnomAD v4 |
| 19 | g.35850937G>A | CA2584604380 | NPHS1 | c.526+24C>T (n.526+24C>T)
| gnomAD v4 |
| 19 | g.35850937G>T | CA2584604381 | NPHS1 | c.526+24C>A (n.526+24C>A)
| gnomAD v4 |
| 19 | g.35850938C>T | CA2584604382 | NPHS1 | c.526+23G>A (n.526+23G>A)
| gnomAD v4 |
| 19 | g.35850939C>A | CA2546082840 | NPHS1 | c.526+22G>T (n.526+22G>T)
| |
| 19 | g.35850941C>A | CA2740096872 | NPHS1 | c.526+20G>T (n.526+20G>T)
| ClinVar |
| 19 | g.35850941C>T | CA2584604383 | NPHS1 | c.526+20G>A (n.526+20G>A)
| gnomAD v4 |
| 19 | g.35850942C>A | CA2736060834 | NPHS1 | c.526+19G>T (n.526+19G>T)
| dbSNP |
| 19 | g.35850942C>G | CA2584604384 | NPHS1 | c.526+19G>C (n.526+19G>C)
| gnomAD v4 |
| 19 | g.35850942C>T | CA2814252835 | NPHS1 | c.526+19G>A (n.526+19G>A)
| |
| 19 | g.35850943C>A | CA2576759060 | NPHS1 | c.526+18G>T (n.526+18G>T)
| |
| 19 | g.35850943C>T | CA2740096873 | NPHS1 | c.526+18G>A (n.526+18G>A)
| ClinVar |
| 19 | g.35850945G>A | CA995487769 | NPHS1 | c.526+16C>T (n.526+16C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850945G= | CA2333851587 | NPHS1 | c.526+16C= (n.526+16C=)
| |
| 19 | g.35850946T>C | CA9390783 | NPHS1 | c.526+15A>G (n.526+15A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850946T= | CA2333851588 | NPHS1 | c.526+15A= (n.526+15A=)
| |
| 19 | g.35850948C>A | CA2576759061 | NPHS1 | c.526+13G>T (n.526+13G>T)
| gnomAD v4 |
| 19 | g.35850948C>G | CA2739276693 | NPHS1 | c.526+13G>C (n.526+13G>C)
| ClinVar |
| 19 | g.35850949A>G | CA2584604385 | NPHS1 | c.526+12T>C (n.526+12T>C)
| gnomAD v4 |
| 19 | g.35850950C= | CA2333851589 | NPHS1 | c.526+11G= (n.526+11G=)
| |
| 19 | g.35850950C>T | CA881821634 | NPHS1 | c.526+11G>A (n.526+11G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850952C= | CA2333851590 | NPHS1 | c.526+9G= (n.526+9G=)
| |
| 19 | g.35850952C>G | CA2584604386 | NPHS1 | c.526+9G>C (n.526+9G>C)
| gnomAD v4 |
| 19 | g.35850952C>T | CA9390784 | NPHS1 | c.526+9G>A (n.526+9G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850954C= | CA2333851591 | NPHS1 | c.526+7G= (n.526+7G=)
| |
| 19 | g.35850954C>T | CA9390785 | NPHS1 | c.526+7G>A (n.526+7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850955A>T | CA2576759062 | NPHS1 | c.526+6T>A (n.526+6T>A)
| gnomAD v4 |
| 19 | g.35850955_35850957delinsACT | CA2333851592 | NPHS1 | c.526+4_526+6delinsAGT (n.526+4_526+6delinsAGT)
| |
| 19 | g.35850956C>A | CA2584604387 | NPHS1 | c.526+5G>T (n.526+5G>T)
| gnomAD v4 |
| 19 | g.35850956C= | CA2333851593 | NPHS1 | c.526+5G= (n.526+5G=)
| |
| 19 | g.35850956C>G | CA250253 | NPHS1 | c.526+5G>C (n.526+5G>C)
| ClinVar dbSNP |
| 19 | g.35850956C>T | CA881821641 | NPHS1 | c.526+5G>A (n.526+5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850957_35850958del | CA632776802 | NPHS1 | c.526+4_526+5del (n.526+4_526+5del)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850957T>C | CA2584604389 | NPHS1 | c.526+4A>G (n.526+4A>G)
| gnomAD v4 |
| 19 | g.35850957_35851031del | CA2584604388 | NPHS1 | c.456_526+4del
| gnomAD v4 |
| 19 | g.35850958C= | CA2333851594 | NPHS1 | c.526+3G= (n.526+3G=)
| |
| 19 | g.35850958C>G | CA9390787 | NPHS1 | c.526+3G>C (n.526+3G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850958C>T | CA9390786 | NPHS1 | c.526+3G>A (n.526+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850959A>C | CA405409646 | NPHS1 | c.526+2T>G (n.526+2T>G)
| |
| 19 | g.35850959A>G | CA405409649 | NPHS1 | c.526+2T>C (n.526+2T>C)
| |
| 19 | g.35850959A>T | CA405409650 | NPHS1 | c.526+2T>A (n.526+2T>A)
| |
| 19 | g.35850960C>A | CA405409654 | NPHS1 | c.526+1G>T (n.526+1G>T)
| |
| 19 | g.35850960C= | CA2333851595 | NPHS1 | c.526+1G= (n.526+1G=)
| |
| 19 | g.35850960C>G | CA9390788 | NPHS1 | c.526+1G>C (n.526+1G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850960C>T | CA405409653 | NPHS1 | c.526+1G>A (n.526+1G>A)
| |
| 19 | g.35850961_35850962del | CA2695228647 | NPHS1 | c.526_526+1del
| |
| 19 | g.35850961T>A | CA405409657 | NPHS1 | c.526A>T (p.Ser176Cys)
| |
| 19 | g.35850961T>C | CA405409658 | NPHS1 | c.526A>G (p.Ser176Gly)
| |
| 19 | g.35850961T>G | CA405409660 | NPHS1 | c.526A>C (p.Ser176Arg)
| |
| 19 | g.35850962C>A | CA507085974 | NPHS1 | c.525G>T (p.Leu175=)
| |
| 19 | g.35850962C= | CA2333851596 | NPHS1 | c.525G= (p.Leu175=)
| |
| 19 | g.35850962C>G | CA507085975 | NPHS1 | c.525G>C (p.Leu175=)
| |
| 19 | g.35850962C>T | CA9390789 | NPHS1 | c.525G>A (p.Leu175=)
| dbSNP ExAC gnomAD v2 |
| 19 | g.35850963A>C | CA405409663 | NPHS1 | c.524T>G (p.Leu175Arg)
| |
| 19 | g.35850963A>G | CA405409665 | NPHS1 | c.524T>C (p.Leu175Pro)
| |
| 19 | g.35850963A>T | CA405409667 | NPHS1 | c.524T>A (p.Leu175Gln)
| |
| 19 | g.35850964G>A | CA507085976 | NPHS1 | c.523C>T (p.Leu175=)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35850964G>C | CA405409669 | NPHS1 | c.523C>G (p.Leu175Val)
| |
| 19 | g.35850964G>T | CA405409671 | NPHS1 | c.523C>A (p.Leu175Met)
| |
| 19 | g.35850965del | CA2584604390 | NPHS1 | c.523del (p.Leu175Ter)
| gnomAD v4 |
| 19 | g.35850965G>A | CA507085977 | NPHS1 | c.522C>T (p.Leu174=)
| gnomAD v4 |
| 19 | g.35850965G>C | CA507085978 | NPHS1 | c.522C>G (p.Leu174=)
| |
| 19 | g.35850965G>T | CA507085979 | NPHS1 | c.522C>A (p.Leu174=)
| |
| 19 | g.35850966A>C | CA405409673 | NPHS1 | c.521T>G (p.Leu174Arg)
| |
| 19 | g.35850966A>G | CA405409675 | NPHS1 | c.521T>C (p.Leu174Pro)
| |
| 19 | g.35850966A>T | CA405409677 | NPHS1 | c.521T>A (p.Leu174His)
| |
| 19 | g.35850967G>A | CA307790128 | NPHS1 | c.520C>T (p.Leu174Phe)
| dbSNP gnomAD v4 |
| 19 | g.35850967G>C | CA405409680 | NPHS1 | c.520C>G (p.Leu174Val)
| |
| 19 | g.35850967G= | CA2333851597 | NPHS1 | c.520C= (p.Leu174=)
| |
| 19 | g.35850967G>T | CA405409678 | NPHS1 | c.520C>A (p.Leu174Ile)
| COSMIC |
| 19 | g.35850968A>C | CA405409683 | NPHS1 | c.519T>G (p.Ile173Met)
| |
| 19 | g.35850968A>G | CA507085980 | NPHS1 | c.519T>C (p.Ile173=)
| ClinVar |
| 19 | g.35850968A>T | CA507085981 | NPHS1 | c.519T>A (p.Ile173=)
| |
| 19 | g.35850969A= | CA2333851599 | NPHS1 | c.518T= (p.Ile173=)
| |
| 19 | g.35850969A>C | CA405409684 | NPHS1 | c.518T>G (p.Ile173Ser)
| |
| 19 | g.35850969A>G | CA405409685 | NPHS1 | c.518T>C (p.Ile173Thr)
| |
| 19 | g.35850969A>T | CA250251 | NPHS1 | c.518T>A (p.Ile173Asn)
| ClinVar dbSNP |
| 19 | g.35850969_35850972delinsATGG | CA2333851598 | NPHS1 | c.515_518delinsCCAT (p.Thr172=)
| |
| 19 | g.35850970T>A | CA405409689 | NPHS1 | c.517A>T (p.Ile173Phe)
| |
| 19 | g.35850970T>C | CA405409691 | NPHS1 | c.517A>G (p.Ile173Val)
| gnomAD v4 |
| 19 | g.35850970T>G | CA405409693 | NPHS1 | c.517A>C (p.Ile173Leu)
| |
| 19 | g.35850970_35850971delinsTG | CA2333851600 | NPHS1 | c.516_517delinsCA (p.Thr172=)
| |
| 19 | g.35850972_35850974del | CA250247 | NPHS1 | c.515_517del (p.Thr172del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850971G>A | CA507085982 | NPHS1 | c.516C>T (p.Thr172=)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35850971G>C | CA507085983 | NPHS1 | c.516C>G (p.Thr172=)
| ClinVar |
| 19 | g.35850971G>T | CA507085984 | NPHS1 | c.516C>A (p.Thr172=)
| gnomAD v4 |
| 19 | g.35850972del | CA250250 | NPHS1 | c.516del (p.Ile173PhefsTer3)
| ClinVar dbSNP |
| 19 | g.35850972G>A | CA405409697 | NPHS1 | c.515C>T (p.Thr172Ile)
| |
| 19 | g.35850972G>C | CA405409698 | NPHS1 | c.515C>G (p.Thr172Ser)
| |
| 19 | g.35850972G= | CA2333851601 | NPHS1 | c.515C= (p.Thr172=)
| |
| 19 | g.35850972G>T | CA9390790 | NPHS1 | c.515C>A (p.Thr172Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850973del | CA2695228648 | NPHS1 | c.514del (p.Thr172ProfsTer4)
| |
| 19 | g.35850973T>A | CA405409702 | NPHS1 | c.514A>T (p.Thr172Ser)
| |
| 19 | g.35850973T>C | CA405409705 | NPHS1 | c.514A>G (p.Thr172Ala)
| dbSNP gnomAD v2 |
| 19 | g.35850973T>G | CA405409708 | NPHS1 | c.514A>C (p.Thr172Pro)
| |
| 19 | g.35850973T= | CA2333851602 | NPHS1 | c.514A= (p.Thr172=)
| |
| 19 | g.35850974G>A | CA507085986 | NPHS1 | c.513C>T (p.Ile171=)
| COSMIC |
| 19 | g.35850974G>C | CA405409711 | NPHS1 | c.513C>G (p.Ile171Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850974G= | CA2333851603 | NPHS1 | c.513C= (p.Ile171=)
| |
| 19 | g.35850974G>T | CA507085985 | NPHS1 | c.513C>A (p.Ile171=)
| |
| 19 | g.35850975A= | CA2333851604 | NPHS1 | c.512T= (p.Ile171=)
| |
| 19 | g.35850975A>C | CA405409713 | NPHS1 | c.512T>G (p.Ile171Ser)
| |
| 19 | g.35850975A>G | CA405409716 | NPHS1 | c.512T>C (p.Ile171Thr)
| gnomAD v4 |
| 19 | g.35850975A>T | CA250245 | NPHS1 | c.512T>A (p.Ile171Asn)
| ClinVar dbSNP |
| 19 | g.35850976T>A | CA405409720 | NPHS1 | c.511A>T (p.Ile171Phe)
| |
| 19 | g.35850976T>C | CA405409722 | NPHS1 | c.511A>G (p.Ile171Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850976T>G | CA405409725 | NPHS1 | c.511A>C (p.Ile171Leu)
| |
| 19 | g.35850976T= | CA2333851605 | NPHS1 | c.511A= (p.Ile171=)
| |
| 19 | g.35850977G>A | CA507085987 | NPHS1 | c.510C>T (p.Asp170=)
| gnomAD v4 |
| 19 | g.35850977G>C | CA405409727 | NPHS1 | c.510C>G (p.Asp170Glu)
| |
| 19 | g.35850977G>T | CA405409729 | NPHS1 | c.510C>A (p.Asp170Glu)
| |
| 19 | g.35850978T>A | CA405409733 | NPHS1 | c.509A>T (p.Asp170Val)
| |
| 19 | g.35850978T>C | CA405409736 | NPHS1 | c.509A>G (p.Asp170Gly)
| |
| 19 | g.35850978T>G | CA405409738 | NPHS1 | c.509A>C (p.Asp170Ala)
| |
| 19 | g.35850979del | CA2580096895 | NPHS1 | c.508del (p.Asp170ThrfsTer6)
| ClinVar |
| 19 | g.35850979C>A | CA405409742 | NPHS1 | c.508G>T (p.Asp170Tyr)
| gnomAD v4 |
| 19 | g.35850979C= | CA2333851606 | NPHS1 | c.508G= (p.Asp170=)
| |
| 19 | g.35850979C>G | CA405409744 | NPHS1 | c.508G>C (p.Asp170His)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850979C>T | CA405409746 | NPHS1 | c.508G>A (p.Asp170Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850980A>C | CA507085988 | NPHS1 | c.507T>G (p.Pro169=)
| |
| 19 | g.35850980A>G | CA507085989 | NPHS1 | c.507T>C (p.Pro169=)
| ClinVar dbSNP |
| 19 | g.35850980A>T | CA507085990 | NPHS1 | c.507T>A (p.Pro169=)
| gnomAD v4 |
| 19 | g.35850981G>A | CA405409753 | NPHS1 | c.506C>T (p.Pro169Leu)
| |
| 19 | g.35850981G>C | CA405409756 | NPHS1 | c.506C>G (p.Pro169Arg)
| |
| 19 | g.35850981G>T | CA405409751 | NPHS1 | c.506C>A (p.Pro169His)
| |
| 19 | g.35850982G>A | CA405409759 | NPHS1 | c.505C>T (p.Pro169Ser)
| dbSNP gnomAD v4 |
| 19 | g.35850982G>C | CA405409763 | NPHS1 | c.505C>G (p.Pro169Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850982G= | CA2333851607 | NPHS1 | c.505C= (p.Pro169=)
| |
| 19 | g.35850982G>T | CA10652380 | NPHS1 | c.505C>A (p.Pro169Thr)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.35850983T>A | CA507085991 | NPHS1 | c.504A>T (p.Ala168=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850983T>C | CA507085992 | NPHS1 | c.504A>G (p.Ala168=)
| gnomAD v4 |
| 19 | g.35850983T>G | CA507085993 | NPHS1 | c.504A>C (p.Ala168=)
| gnomAD v4 |
| 19 | g.35850983T= | CA2333851608 | NPHS1 | c.504A= (p.Ala168=)
| |
| 19 | g.35850984G>A | CA405409765 | NPHS1 | c.503C>T (p.Ala168Val)
| |
| 19 | g.35850984G>C | CA405409766 | NPHS1 | c.503C>G (p.Ala168Gly)
| |
| 19 | g.35850984G= | CA2333851609 | NPHS1 | c.503C= (p.Ala168=)
| |
| 19 | g.35850984G>T | CA9390791 | NPHS1 | c.503C>A (p.Ala168Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850985del | CA2584604391 | NPHS1 | c.502del (p.Ala168HisfsTer8)
| gnomAD v4 |
| 19 | g.35850985C>A | CA405409774 | NPHS1 | c.502G>T (p.Ala168Ser)
| |
| 19 | g.35850985C>G | CA405409776 | NPHS1 | c.502G>C (p.Ala168Pro)
| |
| 19 | g.35850985C>T | CA405409779 | NPHS1 | c.502G>A (p.Ala168Thr)
| |
| 19 | g.35850986T>A | CA507086006 | NPHS1 | c.501A>T (p.Pro167=)
| |
| 19 | g.35850986T>C | CA507086007 | NPHS1 | c.501A>G (p.Pro167=)
| ClinVar |
| 19 | g.35850986T>G | CA507086009 | NPHS1 | c.501A>C (p.Pro167=)
| |
| 19 | g.35850987G>A | CA250243 | NPHS1 | c.500C>T (p.Pro167Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35850987G>C | CA405409784 | NPHS1 | c.500C>G (p.Pro167Arg)
| |
| 19 | g.35850987G= | CA2333851610 | NPHS1 | c.500C= (p.Pro167=)
| |
| 19 | g.35850987G>T | CA405409786 | NPHS1 | c.500C>A (p.Pro167Gln)
| |
| 19 | g.35850988G>A | CA405409790 | NPHS1 | c.499C>T (p.Pro167Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35850988G>C | CA405409793 | NPHS1 | c.499C>G (p.Pro167Ala)
| |
| 19 | g.35850988G= | CA2333851611 | NPHS1 | c.499C= (p.Pro167=)
| |
| 19 | g.35850988G>T | CA405409796 | NPHS1 | c.499C>A (p.Pro167Thr)
| |
| 19 | g.35850989C>A | CA405409798 | NPHS1 | c.498G>T (p.Lys166Asn)
| gnomAD v4 |
| 19 | g.35850989C= | CA2333851612 | NPHS1 | c.498G= (p.Lys166=)
| |
| 19 | g.35850989C>G | CA405409800 | NPHS1 | c.498G>C (p.Lys166Asn)
| |
| 19 | g.35850989C>T | CA507086020 | NPHS1 | c.498G>A (p.Lys166=)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35850990T>A | CA405409803 | NPHS1 | c.497A>T (p.Lys166Met)
| |
| 19 | g.35850990T>C | CA405409804 | NPHS1 | c.497A>G (p.Lys166Arg)
| |
| 19 | g.35850990T>G | CA405409806 | NPHS1 | c.497A>C (p.Lys166Thr)
| |
| 19 | g.35850990_35850991insC | CA2584604392 | NPHS1 | c.496_497insG (p.Lys166ArgfsTer5)
| gnomAD v4 |
| 19 | g.35850991T>A | CA405409809 | NPHS1 | c.496A>T (p.Lys166Ter)
| |
| 19 | g.35850991T>C | CA405409810 | NPHS1 | c.496A>G (p.Lys166Glu)
| |
| 19 | g.35850991T>G | CA405409812 | NPHS1 | c.496A>C (p.Lys166Gln)
| |
| 19 | g.35850992C>A | CA507086030 | NPHS1 | c.495G>T (p.Ala165=)
| |
| 19 | g.35850992C= | CA2333851613 | NPHS1 | c.495G= (p.Ala165=)
| |
| 19 | g.35850992C>G | CA507086032 | NPHS1 | c.495G>C (p.Ala165=)
| |
| 19 | g.35850992C>T | CA9390792 | NPHS1 | c.495G>A (p.Ala165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850993G>A | CA9390793 | NPHS1 | c.494C>T (p.Ala165Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35850993G>C | CA405409818 | NPHS1 | c.494C>G (p.Ala165Gly)
| |
| 19 | g.35850993G= | CA2333851614 | NPHS1 | c.494C= (p.Ala165=)
| |
| 19 | g.35850993G>T | CA405409819 | NPHS1 | c.494C>A (p.Ala165Glu)
| |
| 19 | g.35850993_35850994insGT | CA2584604393 | NPHS1 | c.493_494insAC (p.Ala165AspfsTer12)
| gnomAD v4 |
| 19 | g.35850994C>A | CA405409823 | NPHS1 | c.493G>T (p.Ala165Ser)
| |
| 19 | g.35850994C= | CA2333851615 | NPHS1 | c.493G= (p.Ala165=)
| |
| 19 | g.35850994C>G | CA405409825 | NPHS1 | c.493G>C (p.Ala165Pro)
| gnomAD v4 |
| 19 | g.35850994C>T | CA9390794 | NPHS1 | c.493G>A (p.Ala165Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
