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.35845691A>C | CA405399661 | NPHS1 | c.1735T>G (p.Ser579Ala) | |
| 19 | g.35845691A>G | CA405399663 | NPHS1 | c.1735T>C (p.Ser579Pro) | |
| 19 | g.35845691A>T | CA405399662 | NPHS1 | c.1735T>A (p.Ser579Thr) | |
| 19 | g.35845692C>A | CA405399664 | NPHS1 | c.1734G>T (p.Leu578Phe) | dbSNP gnomAD v4 |
| 19 | g.35845692C= | CA2333849065 | NPHS1 | c.1734G= (p.Leu578=) | |
| 19 | g.35845692C>G | CA405399665 | NPHS1 | c.1734G>C (p.Leu578Phe) | |
| 19 | g.35845692C>T | CA507314213 | NPHS1 | c.1734G>A (p.Leu578=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35845693A>C | CA405399666 | NPHS1 | c.1733T>G (p.Leu578Trp) | |
| 19 | g.35845693A>G | CA405399667 | NPHS1 | c.1733T>C (p.Leu578Ser) | |
| 19 | g.35845693A>T | CA405399668 | NPHS1 | c.1733T>A (p.Leu578Ter) | |
| 19 | g.35845694A= | CA2333849066 | NPHS1 | c.1732T= (p.Leu578=) | |
| 19 | g.35845694A>C | CA405399669 | NPHS1 | c.1732T>G (p.Leu578Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845694A>G | CA507314214 | NPHS1 | c.1732T>C (p.Leu578=) | dbSNP |
| 19 | g.35845694A>T | CA405399670 | NPHS1 | c.1732T>A (p.Leu578Met) | gnomAD v4 |
| 19 | g.35845695G>A | CA507314215 | NPHS1 | c.1731C>T (p.Asn577=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35845695G>C | CA405399671 | NPHS1 | c.1731C>G (p.Asn577Lys) | |
| 19 | g.35845695G= | CA2333849067 | NPHS1 | c.1731C= (p.Asn577=) | |
| 19 | g.35845695G>T | CA9390354 | NPHS1 | c.1731C>A (p.Asn577Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845696T>A | CA405399672 | NPHS1 | c.1730A>T (p.Asn577Ile) | |
| 19 | g.35845696T>C | CA405399673 | NPHS1 | c.1730A>G (p.Asn577Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845696T>G | CA405399674 | NPHS1 | c.1730A>C (p.Asn577Thr) | |
| 19 | g.35845696T= | CA2333849068 | NPHS1 | c.1730A= (p.Asn577=) | |
| 19 | g.35845697del | CA2695228618 | NPHS1 | c.1730del (p.Asn577ThrfsTer?) | |
| 19 | g.35845697T>A | CA405399675 | NPHS1 | c.1729A>T (p.Asn577Tyr) | |
| 19 | g.35845697T>C | CA405399677 | NPHS1 | c.1729A>G (p.Asn577Asp) | |
| 19 | g.35845697T>G | CA405399676 | NPHS1 | c.1729A>C (p.Asn577His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35845697T= | CA2333849069 | NPHS1 | c.1729A= (p.Asn577=) | |
| 19 | g.35845698G>A | CA507314217 | NPHS1 | c.1728C>T (p.Val576=) | |
| 19 | g.35845698G>C | CA507314218 | NPHS1 | c.1728C>G (p.Val576=) | |
| 19 | g.35845698G>T | CA507314219 | NPHS1 | c.1728C>A (p.Val576=) | gnomAD v4 |
| 19 | g.35845699A= | CA2333849070 | NPHS1 | c.1727T= (p.Val576=) | |
| 19 | g.35845699A>C | CA405399678 | NPHS1 | c.1727T>G (p.Val576Gly) | |
| 19 | g.35845699A>G | CA9390355 | NPHS1 | c.1727T>C (p.Val576Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845699A>T | CA405399679 | NPHS1 | c.1727T>A (p.Val576Asp) | |
| 19 | g.35845700C>A | CA405399680 | NPHS1 | c.1726G>T (p.Val576Phe) | ClinVar dbSNP |
| 19 | g.35845700C= | CA2333849071 | NPHS1 | c.1726G= (p.Val576=) | |
| 19 | g.35845700C>G | CA405399681 | NPHS1 | c.1726G>C (p.Val576Leu) | gnomAD v4 |
| 19 | g.35845700C>T | CA405399682 | NPHS1 | c.1726G>A (p.Val576Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35845701C>A | CA9390356 | NPHS1 | c.1725G>T (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845701C= | CA2333849072 | NPHS1 | c.1725G= (p.Pro575=) | |
| 19 | g.35845701C>G | CA9390358 | NPHS1 | c.1725G>C (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845701C>T | CA9390357 | NPHS1 | c.1725G>A (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845702G>A | CA405399683 | NPHS1 | c.1724C>T (p.Pro575Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845702G>C | CA405399684 | NPHS1 | c.1724C>G (p.Pro575Arg) | |
| 19 | g.35845702G= | CA2333849073 | NPHS1 | c.1724C= (p.Pro575=) | |
| 19 | g.35845702G>T | CA250138 | NPHS1 | c.1724C>A (p.Pro575Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845703G>A | CA405399687 | NPHS1 | c.1723C>T (p.Pro575Ser) | gnomAD v4 |
| 19 | g.35845703G>C | CA405399685 | NPHS1 | c.1723C>G (p.Pro575Ala) | |
| 19 | g.35845703G>T | CA405399686 | NPHS1 | c.1723C>A (p.Pro575Thr) | |
| 19 | g.35845704C>A | CA507314220 | NPHS1 | c.1722G>T (p.Pro574=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35845704C= | CA2333849074 | NPHS1 | c.1722G= (p.Pro574=) | |
| 19 | g.35845704C>G | CA507314221 | NPHS1 | c.1722G>C (p.Pro574=) | |
| 19 | g.35845704C>T | CA507314222 | NPHS1 | c.1722G>A (p.Pro574=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35845705G>A | CA405399688 | NPHS1 | c.1721C>T (p.Pro574Leu) | |
| 19 | g.35845705G>C | CA405399689 | NPHS1 | c.1721C>G (p.Pro574Arg) | dbSNP |
| 19 | g.35845705G= | CA2333849075 | NPHS1 | c.1721C= (p.Pro574=) | |
| 19 | g.35845705G>T | CA307785212 | NPHS1 | c.1721C>A (p.Pro574Gln) | dbSNP gnomAD v4 |
| 19 | g.35845706G>A | CA405399690 | NPHS1 | c.1720C>T (p.Pro574Ser) | |
| 19 | g.35845706G>C | CA405399691 | NPHS1 | c.1720C>G (p.Pro574Ala) | |
| 19 | g.35845706G>T | CA405399692 | NPHS1 | c.1720C>A (p.Pro574Thr) | |
| 19 | g.35845707A>C | CA405399693 | NPHS1 | c.1719T>G (p.Asn573Lys) | |
| 19 | g.35845707A>G | CA507314223 | NPHS1 | c.1719T>C (p.Asn573=) | |
| 19 | g.35845707A>T | CA405399694 | NPHS1 | c.1719T>A (p.Asn573Lys) | |
| 19 | g.35845708T>A | CA405399695 | NPHS1 | c.1718A>T (p.Asn573Ile) | |
| 19 | g.35845708T>C | CA405399696 | NPHS1 | c.1718A>G (p.Asn573Ser) | |
| 19 | g.35845708T>G | CA405399697 | NPHS1 | c.1718A>C (p.Asn573Thr) | |
| 19 | g.35845709T>A | CA405399698 | NPHS1 | c.1717A>T (p.Asn573Tyr) | |
| 19 | g.35845709T>C | CA405399700 | NPHS1 | c.1717A>G (p.Asn573Asp) | |
| 19 | g.35845709T>G | CA405399699 | NPHS1 | c.1717A>C (p.Asn573His) | |
| 19 | g.35845710G>A | CA507314224 | NPHS1 | c.1716C>T (p.Ser572=) | |
| 19 | g.35845710G>C | CA405399701 | NPHS1 | c.1716C>G (p.Ser572Arg) | |
| 19 | g.35845710G>T | CA405399702 | NPHS1 | c.1716C>A (p.Ser572Arg) | gnomAD v4 |
| 19 | g.35845711C>A | CA405399703 | NPHS1 | c.1715G>T (p.Ser572Ile) | |
| 19 | g.35845711C= | CA2333849076 | NPHS1 | c.1715G= (p.Ser572=) | |
| 19 | g.35845711C>G | CA405399704 | NPHS1 | c.1715G>C (p.Ser572Thr) | |
| 19 | g.35845711C>T | CA250136 | NPHS1 | c.1715G>A (p.Ser572Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845712T>A | CA405399705 | NPHS1 | c.1714A>T (p.Ser572Cys) | |
| 19 | g.35845712T>C | CA9390359 | NPHS1 | c.1714A>G (p.Ser572Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845712T>G | CA405399706 | NPHS1 | c.1714A>C (p.Ser572Arg) | gnomAD v4 |
| 19 | g.35845712T= | CA2333849077 | NPHS1 | c.1714A= (p.Ser572=) | |
| 19 | g.35845713del | CA2695228621 | NPHS1 | c.1713del (p.Ser571ArgfsTer?) | |
| 19 | g.35845713G>A | CA507314225 | NPHS1 | c.1713C>T (p.Ser571=) | |
| 19 | g.35845713G>C | CA405399707 | NPHS1 | c.1713C>G (p.Ser571Arg) | |
| 19 | g.35845713G>T | CA405399708 | NPHS1 | c.1713C>A (p.Ser571Arg) | |
| 19 | g.35845714C>A | CA405399709 | NPHS1 | c.1712G>T (p.Ser571Ile) | |
| 19 | g.35845714C>G | CA405399710 | NPHS1 | c.1712G>C (p.Ser571Thr) | |
| 19 | g.35845714C>T | CA405399711 | NPHS1 | c.1712G>A (p.Ser571Asn) | |
| 19 | g.35845715T>A | CA405399714 | NPHS1 | c.1711A>T (p.Ser571Cys) | |
| 19 | g.35845715T>C | CA405399713 | NPHS1 | c.1711A>G (p.Ser571Gly) | |
| 19 | g.35845715T>G | CA405399712 | NPHS1 | c.1711A>C (p.Ser571Arg) | |
| 19 | g.35845716G>A | CA507314226 | NPHS1 | c.1710C>T (p.Val570=) | |
| 19 | g.35845716G>C | CA507314227 | NPHS1 | c.1710C>G (p.Val570=) | |
| 19 | g.35845716G>T | CA507314228 | NPHS1 | c.1710C>A (p.Val570=) | |
| 19 | g.35845717A>C | CA405399715 | NPHS1 | c.1709T>G (p.Val570Gly) | |
| 19 | g.35845717A>G | CA405399716 | NPHS1 | c.1709T>C (p.Val570Ala) | |
| 19 | g.35845717A>T | CA405399717 | NPHS1 | c.1709T>A (p.Val570Asp) | |
| 19 | g.35845718C>A | CA405399718 | NPHS1 | c.1708G>T (p.Val570Phe) | gnomAD v4 |
| 19 | g.35845718C>G | CA405399719 | NPHS1 | c.1708G>C (p.Val570Leu) | |
| 19 | g.35845718C>T | CA405399720 | NPHS1 | c.1708G>A (p.Val570Ile) | |
| 19 | g.35845719G>A | CA507314229 | NPHS1 | c.1707C>T (p.Ser569=) | gnomAD v4 |
| 19 | g.35845719G>C | CA250134 | NPHS1 | c.1707C>G (p.Ser569Arg) | ClinVar dbSNP |
| 19 | g.35845719G= | CA2333849078 | NPHS1 | c.1707C= (p.Ser569=) | |
| 19 | g.35845719G>T | CA405399722 | NPHS1 | c.1707C>A (p.Ser569Arg) | |
| 19 | g.35845720C>A | CA405399723 | NPHS1 | c.1706G>T (p.Ser569Ile) | |
| 19 | g.35845720C>G | CA405399724 | NPHS1 | c.1706G>C (p.Ser569Thr) | |
| 19 | g.35845720C>T | CA405399725 | NPHS1 | c.1706G>A (p.Ser569Asn) | |
| 19 | g.35845721T>A | CA405399726 | NPHS1 | c.1705A>T (p.Ser569Cys) | |
| 19 | g.35845721T>C | CA405399727 | NPHS1 | c.1705A>G (p.Ser569Gly) | |
| 19 | g.35845721T>G | CA405399728 | NPHS1 | c.1705A>C (p.Ser569Arg) | |
| 19 | g.35845722G>A | CA507314232 | NPHS1 | c.1704C>T (p.Val568=) | |
| 19 | g.35845722G>C | CA507314230 | NPHS1 | c.1704C>G (p.Val568=) | |
| 19 | g.35845722G>T | CA507314231 | NPHS1 | c.1704C>A (p.Val568=) | |
| 19 | g.35845723A= | CA2333849079 | NPHS1 | c.1703T= (p.Val568=) | |
| 19 | g.35845723A>C | CA405399730 | NPHS1 | c.1703T>G (p.Val568Gly) | |
| 19 | g.35845723A>G | CA9390360 | NPHS1 | c.1703T>C (p.Val568Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845723A>T | CA405399729 | NPHS1 | c.1703T>A (p.Val568Asp) | |
| 19 | g.35845724C>A | CA405399731 | NPHS1 | c.1702G>T (p.Val568Phe) | |
| 19 | g.35845724C>G | CA405399734 | NPHS1 | c.1702G>C (p.Val568Leu) | |
| 19 | g.35845724C>T | CA405399736 | NPHS1 | c.1702G>A (p.Val568Ile) | gnomAD v4 |
| 19 | g.35845725G>A | CA507314233 | NPHS1 | c.1701C>T (p.Cys567=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845725G>C | CA405399739 | NPHS1 | c.1701C>G (p.Cys567Trp) | |
| 19 | g.35845725G= | CA2333849080 | NPHS1 | c.1701C= (p.Cys567=) | |
| 19 | g.35845725G>T | CA250131 | NPHS1 | c.1701C>A (p.Cys567Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845726C>A | CA405399743 | NPHS1 | c.1700G>T (p.Cys567Phe) | |
| 19 | g.35845726C>G | CA405399745 | NPHS1 | c.1700G>C (p.Cys567Ser) | |
| 19 | g.35845726C>T | CA405399748 | NPHS1 | c.1700G>A (p.Cys567Tyr) | |
| 19 | g.35845727A= | CA2333849081 | NPHS1 | c.1699T= (p.Cys567=) | |
| 19 | g.35845727A>C | CA405399751 | NPHS1 | c.1699T>G (p.Cys567Gly) | gnomAD v4 |
| 19 | g.35845727A>G | CA405399753 | NPHS1 | c.1699T>C (p.Cys567Arg) | gnomAD v4 |
| 19 | g.35845727A>T | CA405399755 | NPHS1 | c.1699T>A (p.Cys567Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845728T>A | CA9390361 | NPHS1 | c.1698A>T (p.Thr566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845728T>C | CA9390362 | NPHS1 | c.1698A>G (p.Thr566=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845728T>G | CA507314234 | NPHS1 | c.1698A>C (p.Thr566=) | |
| 19 | g.35845728T= | CA2333849082 | NPHS1 | c.1698A= (p.Thr566=) | |
| 19 | g.35845729G>A | CA405399766 | NPHS1 | c.1697C>T (p.Thr566Ile) | |
| 19 | g.35845729G>C | CA405399762 | NPHS1 | c.1697C>G (p.Thr566Arg) | |
| 19 | g.35845729G>T | CA405399764 | NPHS1 | c.1697C>A (p.Thr566Lys) | |
| 19 | g.35845730T>A | CA405399768 | NPHS1 | c.1696A>T (p.Thr566Ser) | |
| 19 | g.35845730T>C | CA405399770 | NPHS1 | c.1696A>G (p.Thr566Ala) | COSMIC |
| 19 | g.35845730T>G | CA405399772 | NPHS1 | c.1696A>C (p.Thr566Pro) | |
| 19 | g.35845731C>A | CA405399775 | NPHS1 | c.1695G>T (p.Leu565Phe) | |
| 19 | g.35845731C= | CA2333849083 | NPHS1 | c.1695G= (p.Leu565=) | |
| 19 | g.35845731C>G | CA9390363 | NPHS1 | c.1695G>C (p.Leu565Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35845731C>T | CA507314235 | NPHS1 | c.1695G>A (p.Leu565=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845732A>C | CA405399778 | NPHS1 | c.1694T>G (p.Leu565Trp) | |
| 19 | g.35845732A>G | CA405399780 | NPHS1 | c.1694T>C (p.Leu565Ser) | |
| 19 | g.35845732A>T | CA405399782 | NPHS1 | c.1694T>A (p.Leu565Ter) | |
| 19 | g.35845733A>C | CA405399785 | NPHS1 | c.1693T>G (p.Leu565Val) | |
| 19 | g.35845733A>G | CA507314236 | NPHS1 | c.1693T>C (p.Leu565=) | ClinVar |
| 19 | g.35845733A>T | CA405399787 | NPHS1 | c.1693T>A (p.Leu565Met) | |
| 19 | g.35845734G>A | CA507314237 | NPHS1 | c.1692C>T (p.Asn564=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35845734G>C | CA405399790 | NPHS1 | c.1692C>G (p.Asn564Lys) | |
| 19 | g.35845734G>T | CA405399792 | NPHS1 | c.1692C>A (p.Asn564Lys) | |
| 19 | g.35845735T>A | CA405399794 | NPHS1 | c.1691A>T (p.Asn564Ile) | |
| 19 | g.35845735T>C | CA405399797 | NPHS1 | c.1691A>G (p.Asn564Ser) | |
| 19 | g.35845735T>G | CA405399795 | NPHS1 | c.1691A>C (p.Asn564Thr) | |
| 19 | g.35845736T>A | CA405399800 | NPHS1 | c.1690A>T (p.Asn564Tyr) | |
| 19 | g.35845736T>C | CA405399804 | NPHS1 | c.1690A>G (p.Asn564Asp) | |
| 19 | g.35845736T>G | CA405399802 | NPHS1 | c.1690A>C (p.Asn564His) | |
| 19 | g.35845737T>A | CA405399807 | NPHS1 | c.1689A>T (p.Leu563Phe) | |
| 19 | g.35845737T>C | CA507314238 | NPHS1 | c.1689A>G (p.Leu563=) | gnomAD v4 |
| 19 | g.35845737T>G | CA405399808 | NPHS1 | c.1689A>C (p.Leu563Phe) | |
| 19 | g.35845738A>C | CA405399811 | NPHS1 | c.1688T>G (p.Leu563Ter) | |
| 19 | g.35845738A>G | CA405399813 | NPHS1 | c.1688T>C (p.Leu563Ser) | |
| 19 | g.35845738A>T | CA405399815 | NPHS1 | c.1688T>A (p.Leu563Ter) | |
| 19 | g.35845739A>C | CA405399818 | NPHS1 | c.1687T>G (p.Leu563Val) | |
| 19 | g.35845739A>G | CA507314239 | NPHS1 | c.1687T>C (p.Leu563=) | |
| 19 | g.35845739A>T | CA405399820 | NPHS1 | c.1687T>A (p.Leu563Ile) | |
| 19 | g.35845740G>A | CA507314240 | NPHS1 | c.1686C>T (p.Ala562=) | gnomAD v4 |
| 19 | g.35845740G>C | CA507314241 | NPHS1 | c.1686C>G (p.Ala562=) | |
| 19 | g.35845740G>T | CA507314242 | NPHS1 | c.1686C>A (p.Ala562=) | |
| 19 | g.35845741G>A | CA405399823 | NPHS1 | c.1685C>T (p.Ala562Val) | |
| 19 | g.35845741G>C | CA405399825 | NPHS1 | c.1685C>G (p.Ala562Gly) | |
| 19 | g.35845741G>T | CA405399827 | NPHS1 | c.1685C>A (p.Ala562Asp) | |
| 19 | g.35845742C>A | CA405399834 | NPHS1 | c.1684G>T (p.Ala562Ser) | gnomAD v4 |
| 19 | g.35845742C>G | CA405399832 | NPHS1 | c.1684G>C (p.Ala562Pro) | |
| 19 | g.35845742C>T | CA405399830 | NPHS1 | c.1684G>A (p.Ala562Thr) | gnomAD v4 |
| 19 | g.35845743G>A | CA507314243 | NPHS1 | c.1683C>T (p.Asp561=) | |
| 19 | g.35845743G>C | CA405399836 | NPHS1 | c.1683C>G (p.Asp561Glu) | dbSNP |
| 19 | g.35845743G>T | CA405399838 | NPHS1 | c.1683C>A (p.Asp561Glu) | |
| 19 | g.35845744T>A | CA405399840 | NPHS1 | c.1682A>T (p.Asp561Val) | |
| 19 | g.35845744T>C | CA307785247 | NPHS1 | c.1682A>G (p.Asp561Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35845744T>G | CA405399844 | NPHS1 | c.1682A>C (p.Asp561Ala) | |
| 19 | g.35845744T= | CA2333849084 | NPHS1 | c.1682A= (p.Asp561=) | |
| 19 | g.35845745C>A | CA405399848 | NPHS1 | c.1681G>T (p.Asp561Tyr) | |
| 19 | g.35845745C>G | CA405399850 | NPHS1 | c.1681G>C (p.Asp561His) | |
| 19 | g.35845745C>T | CA405399853 | NPHS1 | c.1681G>A (p.Asp561Asn) | |
| 19 | g.35845746T>A | CA507314244 | NPHS1 | c.1680A>T (p.Gly560=) | |
| 19 | g.35845746T>C | CA507314245 | NPHS1 | c.1680A>G (p.Gly560=) | |
| 19 | g.35845746T>G | CA507314246 | NPHS1 | c.1680A>C (p.Gly560=) | |
| 19 | g.35845747C>A | CA405399856 | NPHS1 | c.1679G>T (p.Gly560Val) | |
| 19 | g.35845747C>G | CA405399858 | NPHS1 | c.1679G>C (p.Gly560Ala) | |
| 19 | g.35845747C>T | CA405399860 | NPHS1 | c.1679G>A (p.Gly560Glu) | COSMIC |
| 19 | g.35845748C>A | CA405399865 | NPHS1 | c.1678G>T (p.Gly560Ter) | |
| 19 | g.35845748C= | CA2333849085 | NPHS1 | c.1678G= (p.Gly560=) | |
| 19 | g.35845748C>G | CA405399867 | NPHS1 | c.1678G>C (p.Gly560Arg) | |
| 19 | g.35845748C>T | CA405399863 | NPHS1 | c.1678G>A (p.Gly560Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35845749C>A | CA507314248 | NPHS1 | c.1677G>T (p.Pro559=) | ClinVar dbSNP |
| 19 | g.35845749C= | CA2333849086 | NPHS1 | c.1677G= (p.Pro559=) | |
| 19 | g.35845749C>G | CA507314247 | NPHS1 | c.1677G>C (p.Pro559=) | |
| 19 | g.35845749C>T | CA307785250 | NPHS1 | c.1677G>A (p.Pro559=) | dbSNP |
| 19 | g.35845750G>A | CA405399872 | NPHS1 | c.1676C>T (p.Pro559Leu) | dbSNP |
| 19 | g.35845750G>C | CA405399874 | NPHS1 | c.1676C>G (p.Pro559Arg) | gnomAD v4 |
| 19 | g.35845750G= | CA2333849087 | NPHS1 | c.1676C= (p.Pro559=) | |
| 19 | g.35845750G>T | CA405399876 | NPHS1 | c.1676C>A (p.Pro559Gln) | |
| 19 | g.35845751G>A | CA405399878 | NPHS1 | c.1675C>T (p.Pro559Ser) | COSMIC |
| 19 | g.35845751G>C | CA405399880 | NPHS1 | c.1675C>G (p.Pro559Ala) | |
| 19 | g.35845751G>T | CA405399883 | NPHS1 | c.1675C>A (p.Pro559Thr) | |
| 19 | g.35845752G>A | CA507314249 | NPHS1 | c.1674C>T (p.Arg558=) | |
| 19 | g.35845752G>C | CA507314250 | NPHS1 | c.1674C>G (p.Arg558=) | |
| 19 | g.35845752G>T | CA507314251 | NPHS1 | c.1674C>A (p.Arg558=) | ClinVar |
| 19 | g.35845753C>A | CA405399886 | NPHS1 | c.1673G>T (p.Arg558Leu) | gnomAD v4 |
| 19 | g.35845753C>G | CA405399888 | NPHS1 | c.1673G>C (p.Arg558Pro) | |
| 19 | g.35845753C>T | CA405399891 | NPHS1 | c.1673G>A (p.Arg558His) | |
| 19 | g.35845754G>A | CA250129 | NPHS1 | c.1672C>T (p.Arg558Cys) | ClinVar dbSNP |
| 19 | g.35845754G>C | CA405399896 | NPHS1 | c.1672C>G (p.Arg558Gly) | |
| 19 | g.35845754G= | CA2333849088 | NPHS1 | c.1672C= (p.Arg558=) | |
| 19 | g.35845754G>T | CA405399898 | NPHS1 | c.1672C>A (p.Arg558Ser) | dbSNP |
| 19 | g.35845755C>A | CA507314252 | NPHS1 | c.1671G>T (p.Leu557=) | |
| 19 | g.35845755C>G | CA507314253 | NPHS1 | c.1671G>C (p.Leu557=) | |
| 19 | g.35845755C>T | CA507314254 | NPHS1 | c.1671G>A (p.Leu557=) | |
| 19 | g.35845756A>C | CA405399906 | NPHS1 | c.1670T>G (p.Leu557Arg) | |
| 19 | g.35845756A>G | CA405399904 | NPHS1 | c.1670T>C (p.Leu557Pro) | |
| 19 | g.35845756A>T | CA405399902 | NPHS1 | c.1670T>A (p.Leu557Gln) | |
| 19 | g.35845757G>A | CA507314255 | NPHS1 | c.1669C>T (p.Leu557=) | ClinVar dbSNP |
| 19 | g.35845757G>C | CA405399907 | NPHS1 | c.1669C>G (p.Leu557Val) | |
| 19 | g.35845757G>T | CA405399909 | NPHS1 | c.1669C>A (p.Leu557Met) | |
| 19 | g.35845758T>A | CA507314256 | NPHS1 | c.1668A>T (p.Ala556=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35845758T>C | CA507314257 | NPHS1 | c.1668A>G (p.Ala556=) | ClinVar |
| 19 | g.35845758T>G | CA507314258 | NPHS1 | c.1668A>C (p.Ala556=) | |
| 19 | g.35845758T= | CA2333849089 | NPHS1 | c.1668A= (p.Ala556=) | |
| 19 | g.35845759G>A | CA405399913 | NPHS1 | c.1667C>T (p.Ala556Val) | |
| 19 | g.35845759G>C | CA405399915 | NPHS1 | c.1667C>G (p.Ala556Gly) | |
| 19 | g.35845759G>T | CA405399918 | NPHS1 | c.1667C>A (p.Ala556Glu) | gnomAD v4 |
| 19 | g.35845760C>A | CA405399920 | NPHS1 | c.1666G>T (p.Ala556Ser) | dbSNP gnomAD v4 |
| 19 | g.35845760C= | CA2333849090 | NPHS1 | c.1666G= (p.Ala556=) | |
| 19 | g.35845760C>G | CA405399922 | NPHS1 | c.1666G>C (p.Ala556Pro) | |
| 19 | g.35845760C>T | CA405399924 | NPHS1 | c.1666G>A (p.Ala556Thr) | |
| 19 | g.35845761G>A | CA9390364 | NPHS1 | c.1665C>T (p.Ser555=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845761G>C | CA507314259 | NPHS1 | c.1665C>G (p.Ser555=) | ClinVar |
| 19 | g.35845761G= | CA2333849091 | NPHS1 | c.1665C= (p.Ser555=) | |
| 19 | g.35845761G>T | CA507314260 | NPHS1 | c.1665C>A (p.Ser555=) | gnomAD v4 |
| 19 | g.35845762G>A | CA405399929 | NPHS1 | c.1664C>T (p.Ser555Phe) | |
| 19 | g.35845762G>C | CA405399931 | NPHS1 | c.1664C>G (p.Ser555Cys) | |
| 19 | g.35845762G>T | CA405399933 | NPHS1 | c.1664C>A (p.Ser555Tyr) | |
| 19 | g.35845763A>C | CA405399940 | NPHS1 | c.1663T>G (p.Ser555Ala) | |
| 19 | g.35845763A>G | CA405399938 | NPHS1 | c.1663T>C (p.Ser555Pro) | |
| 19 | g.35845763A>T | CA405399936 | NPHS1 | c.1663T>A (p.Ser555Thr) | |
| 19 | g.35845764T>A | CA507314261 | NPHS1 | c.1662A>T (p.Ala554=) | |
| 19 | g.35845764T>C | CA507314262 | NPHS1 | c.1662A>G (p.Ala554=) | |
| 19 | g.35845764T>G | CA507314263 | NPHS1 | c.1662A>C (p.Ala554=) | |
| 19 | g.35845765G>A | CA405399942 | NPHS1 | c.1661C>T (p.Ala554Val) | gnomAD v4 |
| 19 | g.35845765G>C | CA405399946 | NPHS1 | c.1661C>G (p.Ala554Gly) | |
| 19 | g.35845765G>T | CA405399944 | NPHS1 | c.1661C>A (p.Ala554Glu) | |
| 19 | g.35845765dup | CA2697556470 | NPHS1 | c.1661dup (p.Ser555IlefsTer?) | ClinVar |
| 19 | g.35845766C>A | CA405399950 | NPHS1 | c.1660G>T (p.Ala554Ser) | gnomAD v4 |
| 19 | g.35845766C>G | CA405399951 | NPHS1 | c.1660G>C (p.Ala554Pro) | |
| 19 | g.35845766C>T | CA405399953 | NPHS1 | c.1660G>A (p.Ala554Thr) | |
| 19 | g.35845767G>A | CA507314264 | NPHS1 | c.1659C>T (p.Asn553=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845767G>C | CA405399955 | NPHS1 | c.1659C>G (p.Asn553Lys) | gnomAD v4 |
| 19 | g.35845767G= | CA2333849092 | NPHS1 | c.1659C= (p.Asn553=) | |
| 19 | g.35845767G>T | CA405399957 | NPHS1 | c.1659C>A (p.Asn553Lys) | gnomAD v4 |
| 19 | g.35845768T>A | CA405399966 | NPHS1 | c.1658A>T (p.Asn553Ile) | |
| 19 | g.35845768T>C | CA405399964 | NPHS1 | c.1658A>G (p.Asn553Ser) | |
| 19 | g.35845768T>G | CA405399961 | NPHS1 | c.1658A>C (p.Asn553Thr) | |
| 19 | g.35845769T>A | CA405399969 | NPHS1 | c.1657A>T (p.Asn553Tyr) | |
| 19 | g.35845769T>C | CA405399971 | NPHS1 | c.1657A>G (p.Asn553Asp) | |
| 19 | g.35845769T>G | CA405399973 | NPHS1 | c.1657A>C (p.Asn553His) | |
| 19 | g.35845770G>A | CA507314266 | NPHS1 | c.1656C>T (p.Ala552=) | |
| 19 | g.35845770G>C | CA507314267 | NPHS1 | c.1656C>G (p.Ala552=) | |
| 19 | g.35845770G>T | CA507314265 | NPHS1 | c.1656C>A (p.Ala552=) | |
| 19 | g.35845771G>A | CA405399977 | NPHS1 | c.1655C>T (p.Ala552Val) | |
| 19 | g.35845771G>C | CA405399979 | NPHS1 | c.1655C>G (p.Ala552Gly) | |
| 19 | g.35845771G>T | CA405399981 | NPHS1 | c.1655C>A (p.Ala552Asp) | gnomAD v4 |
| 19 | g.35845772C>A | CA405399985 | NPHS1 | c.1654G>T (p.Ala552Ser) | |
| 19 | g.35845772C>G | CA405399989 | NPHS1 | c.1654G>C (p.Ala552Pro) | |
| 19 | g.35845772C>T | CA405399987 | NPHS1 | c.1654G>A (p.Ala552Thr) | |
| 19 | g.35845773C>A | CA507314270 | NPHS1 | c.1653G>T (p.Leu551=) | |
| 19 | g.35845773C>G | CA507314269 | NPHS1 | c.1653G>C (p.Leu551=) | |
| 19 | g.35845773C>T | CA507314268 | NPHS1 | c.1653G>A (p.Leu551=) | |
| 19 | g.35845774A>C | CA405399991 | NPHS1 | c.1652T>G (p.Leu551Arg) | |
| 19 | g.35845774A>G | CA405399993 | NPHS1 | c.1652T>C (p.Leu551Pro) | |
| 19 | g.35845774A>T | CA405399995 | NPHS1 | c.1652T>A (p.Leu551Gln) | |
| 19 | g.35845775G>A | CA507314271 | NPHS1 | c.1651C>T (p.Leu551=) | |
| 19 | g.35845775G>C | CA405399999 | NPHS1 | c.1651C>G (p.Leu551Val) | |
| 19 | g.35845775G>T | CA405400001 | NPHS1 | c.1651C>A (p.Leu551Met) | |
| 19 | g.35845776G>A | CA507314272 | NPHS1 | c.1650C>T (p.Ile550=) | ClinVar dbSNP |
| 19 | g.35845776G>C | CA405400003 | NPHS1 | c.1650C>G (p.Ile550Met) | |
| 19 | g.35845776G>T | CA507314273 | NPHS1 | c.1650C>A (p.Ile550=) | |
| 19 | g.35845777A>C | CA405400006 | NPHS1 | c.1649T>G (p.Ile550Ser) | |
| 19 | g.35845777A>G | CA405400009 | NPHS1 | c.1649T>C (p.Ile550Thr) | |
| 19 | g.35845777A>T | CA405400010 | NPHS1 | c.1649T>A (p.Ile550Asn) | |
| 19 | g.35845778T>A | CA405400013 | NPHS1 | c.1648A>T (p.Ile550Phe) | |
| 19 | g.35845778T>C | CA405400015 | NPHS1 | c.1648A>G (p.Ile550Val) | |
| 19 | g.35845778T>G | CA405400018 | NPHS1 | c.1648A>C (p.Ile550Leu) | |
| 19 | g.35845779C>A | CA507314274 | NPHS1 | c.1647G>T (p.Thr549=) | dbSNP |
| 19 | g.35845779C= | CA2333849093 | NPHS1 | c.1647G= (p.Thr549=) | |
| 19 | g.35845779C>G | CA9390365 | NPHS1 | c.1647G>C (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845779C>T | CA507314275 | NPHS1 | c.1647G>A (p.Thr549=) | ClinVar dbSNP |
| 19 | g.35845780G>A | CA405400026 | NPHS1 | c.1646C>T (p.Thr549Met) | dbSNP |
| 19 | g.35845780G>C | CA405400021 | NPHS1 | c.1646C>G (p.Thr549Arg) | gnomAD v4 |
| 19 | g.35845780G= | CA2333849094 | NPHS1 | c.1646C= (p.Thr549=) | |
| 19 | g.35845780G>T | CA405400023 | NPHS1 | c.1646C>A (p.Thr549Lys) | gnomAD v4 |
| 19 | g.35845780_35845781dup | CA2584603227 | NPHS1 | c.1645_1646dup (p.Ile550ArgfsTer15) | gnomAD v4 |
| 19 | g.35845781T>A | CA405400029 | NPHS1 | c.1645A>T (p.Thr549Ser) | gnomAD v4 |
| 19 | g.35845781T>C | CA405400031 | NPHS1 | c.1645A>G (p.Thr549Ala) | |
| 19 | g.35845781T>G | CA405400033 | NPHS1 | c.1645A>C (p.Thr549Pro) | |
| 19 | g.35845782C>A | CA507314276 | NPHS1 | c.1644G>T (p.Val548=) | |
| 19 | g.35845782C>G | CA507314277 | NPHS1 | c.1644G>C (p.Val548=) | |
| 19 | g.35845782C>T | CA507314278 | NPHS1 | c.1644G>A (p.Val548=) | |
| 19 | g.35845783A>C | CA405400036 | NPHS1 | c.1643T>G (p.Val548Gly) | |
| 19 | g.35845783A>G | CA405400038 | NPHS1 | c.1643T>C (p.Val548Ala) | |
| 19 | g.35845783A>T | CA405400040 | NPHS1 | c.1643T>A (p.Val548Glu) | |
| 19 | g.35845784C>A | CA405400044 | NPHS1 | c.1642G>T (p.Val548Leu) | gnomAD v4 |
| 19 | g.35845784C>G | CA405400046 | NPHS1 | c.1642G>C (p.Val548Leu) | |
| 19 | g.35845784C>T | CA405400048 | NPHS1 | c.1642G>A (p.Val548Met) | gnomAD v4 COSMIC |
| 19 | g.35845785G>A | CA507314279 | NPHS1 | c.1641C>T (p.Asn547=) | |
| 19 | g.35845785G>C | CA405400051 | NPHS1 | c.1641C>G (p.Asn547Lys) | |
| 19 | g.35845785G= | CA2333849095 | NPHS1 | c.1641C= (p.Asn547=) | |
| 19 | g.35845785G>T | CA9390366 | NPHS1 | c.1641C>A (p.Asn547Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845786T>A | CA405400056 | NPHS1 | c.1640A>T (p.Asn547Ile) | |
| 19 | g.35845786T>C | CA405400059 | NPHS1 | c.1640A>G (p.Asn547Ser) | |
| 19 | g.35845786T>G | CA405400055 | NPHS1 | c.1640A>C (p.Asn547Thr) | |
| 19 | g.35845787T>A | CA405400061 | NPHS1 | c.1639A>T (p.Asn547Tyr) | |
| 19 | g.35845787T>C | CA405400062 | NPHS1 | c.1639A>G (p.Asn547Asp) | dbSNP gnomAD v4 |
| 19 | g.35845787T>G | CA405400064 | NPHS1 | c.1639A>C (p.Asn547His) | |
| 19 | g.35845787T= | CA2333849096 | NPHS1 | c.1639A= (p.Asn547=) | |
| 19 | g.35845788A= | CA2333849097 | NPHS1 | c.1638T= (p.Thr546=) | |
| 19 | g.35845788A>C | CA9390367 | NPHS1 | c.1638T>G (p.Thr546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35845788A>G | CA507314280 | NPHS1 | c.1638T>C (p.Thr546=) | dbSNP |
| 19 | g.35845788A>T | CA507314281 | NPHS1 | c.1638T>A (p.Thr546=) | |
| 19 | g.35845789G>A | CA405400072 | NPHS1 | c.1637C>T (p.Thr546Ile) | |
| 19 | g.35845789G>C | CA405400071 | NPHS1 | c.1637C>G (p.Thr546Ser) | |
| 19 | g.35845789G>T | CA405400070 | NPHS1 | c.1637C>A (p.Thr546Asn) | |
| 19 | g.35845790T>A | CA405400073 | NPHS1 | c.1636A>T (p.Thr546Ser) | |
| 19 | g.35845790T>C | CA405400074 | NPHS1 | c.1636A>G (p.Thr546Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35845790T>G | CA405400075 | NPHS1 | c.1636A>C (p.Thr546Pro) | |
| 19 | g.35845790T= | CA2333849098 | NPHS1 | c.1636A= (p.Thr546=) | |
| 19 | g.35845791T>A | CA507314283 | NPHS1 | c.1635A>T (p.Pro545=) | |
| 19 | g.35845791T>C | CA507314284 | NPHS1 | c.1635A>G (p.Pro545=) | |
| 19 | g.35845791T>G | CA507314282 | NPHS1 | c.1635A>C (p.Pro545=) | gnomAD v4 |