Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.35845792G>A | CA405400076 | NPHS1 | c.1634C>T (p.Pro545Leu) | dbSNP |
19 | g.35845792G>C | CA405400077 | NPHS1 | c.1634C>G (p.Pro545Arg) | |
19 | g.35845792G= | CA2333849099 | NPHS1 | c.1634C= (p.Pro545=) | |
19 | g.35845792G>T | CA405400078 | NPHS1 | c.1634C>A (p.Pro545Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845794_35845796del | CA2576758862 | NPHS1 | c.1632_1634del (p.Pro545del) | gnomAD v4 |
19 | g.35845793G>A | CA405400079 | NPHS1 | c.1633C>T (p.Pro545Ser) | gnomAD v4 |
19 | g.35845793G>C | CA405400081 | NPHS1 | c.1633C>G (p.Pro545Ala) | COSMIC |
19 | g.35845793G>T | CA405400080 | NPHS1 | c.1633C>A (p.Pro545Thr) | |
19 | g.35845794G>A | CA507314285 | NPHS1 | c.1632C>T (p.Pro544=) | gnomAD v4 |
19 | g.35845794G>C | CA507314286 | NPHS1 | c.1632C>G (p.Pro544=) | ClinVar dbSNP gnomAD v4 |
19 | g.35845794G= | CA2333849100 | NPHS1 | c.1632C= (p.Pro544=) | |
19 | g.35845794G>T | CA507314287 | NPHS1 | c.1632C>A (p.Pro544=) | |
19 | g.35845795G>A | CA9390368 | NPHS1 | c.1631C>T (p.Pro544Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845795G>C | CA405400083 | NPHS1 | c.1631C>G (p.Pro544Arg) | |
19 | g.35845795G= | CA2333849101 | NPHS1 | c.1631C= (p.Pro544=) | |
19 | g.35845795G>T | CA405400082 | NPHS1 | c.1631C>A (p.Pro544His) | gnomAD v4 |
19 | g.35845796G>A | CA405400084 | NPHS1 | c.1630C>T (p.Pro544Ser) | |
19 | g.35845796G>C | CA405400085 | NPHS1 | c.1630C>G (p.Pro544Ala) | |
19 | g.35845796G= | CA2333849102 | NPHS1 | c.1630C= (p.Pro544=) | |
19 | g.35845796G>T | CA405400086 | NPHS1 | c.1630C>A (p.Pro544Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845797A>C | CA405400087 | NPHS1 | c.1629T>G (p.Phe543Leu) | |
19 | g.35845797A>G | CA507314288 | NPHS1 | c.1629T>C (p.Phe543=) | |
19 | g.35845797A>T | CA405400088 | NPHS1 | c.1629T>A (p.Phe543Leu) | |
19 | g.35845798A>C | CA405400089 | NPHS1 | c.1628T>G (p.Phe543Cys) | |
19 | g.35845798A>G | CA405400090 | NPHS1 | c.1628T>C (p.Phe543Ser) | |
19 | g.35845798A>T | CA405400091 | NPHS1 | c.1628T>A (p.Phe543Tyr) | |
19 | g.35845799C>A | CA405400092 | NPHS1 | c.1628-1G>T (n.1628-1G>T) | |
19 | g.35845799C>G | CA405400093 | NPHS1 | c.1628-1G>C (n.1628-1G>C) | |
19 | g.35845799C>T | CA405400094 | NPHS1 | c.1628-1G>A (n.1628-1G>A) | |
19 | g.35845800T>A | CA405400097 | NPHS1 | c.1628-2A>T (n.1628-2A>T) | |
19 | g.35845800T>C | CA405400096 | NPHS1 | c.1628-2A>G (n.1628-2A>G) | |
19 | g.35845800T>G | CA405400095 | NPHS1 | c.1628-2A>C (n.1628-2A>C) | |
19 | g.35845801G>A | CA2333849104 | NPHS1 | c.1628-3C>T (n.1628-3C>T) | dbSNP |
19 | g.35845801G= | CA2333849103 | NPHS1 | c.1628-3C= (n.1628-3C=) | |
19 | g.35845802G>A | CA2697556471 | NPHS1 | c.1628-4C>T (n.1628-4C>T) | ClinVar |
19 | g.35845803G>A | CA307785259 | NPHS1 | c.1628-5C>T (n.1628-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |