Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35839504G>A | CA507314089 | NPHS1 | c.2919C>T (p.Phe973=) | ClinVar dbSNP gnomAD v2 |
19 | g.35839504G>C | CA405385752 | NPHS1 | c.2919C>G (p.Phe973Leu) | |
19 | g.35839504G= | CA2333846094 | NPHS1 | c.2919C= (p.Phe973=) | |
19 | g.35839504G>T | CA405385754 | NPHS1 | c.2919C>A (p.Phe973Leu) | |
19 | g.35839505A>C | CA405385764 | NPHS1 | c.2918T>G (p.Phe973Cys) | |
19 | g.35839505A>G | CA405385759 | NPHS1 | c.2918T>C (p.Phe973Ser) | |
19 | g.35839505A>T | CA405385762 | NPHS1 | c.2918T>A (p.Phe973Tyr) | |
19 | g.35839506A= | CA2333846095 | NPHS1 | c.2917T= (p.Phe973=) | |
19 | g.35839506A>C | CA405385768 | NPHS1 | c.2917T>G (p.Phe973Val) | dbSNP |
19 | g.35839506A>G | CA405385770 | NPHS1 | c.2917T>C (p.Phe973Leu) | |
19 | g.35839506A>T | CA405385774 | NPHS1 | c.2917T>A (p.Phe973Ile) | |
19 | g.35839507C>A | CA9389983 | NPHS1 | c.2916G>T (p.Arg972Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35839507C= | CA2333846096 | NPHS1 | c.2916G= (p.Arg972=) | |
19 | g.35839507C>G | CA405385781 | NPHS1 | c.2916G>C (p.Arg972Ser) | gnomAD v4 |
19 | g.35839507C>T | CA507314090 | NPHS1 | c.2916G>A (p.Arg972=) | ClinVar dbSNP |
19 | g.35839508C>A | CA405385788 | NPHS1 | c.2915G>T (p.Arg972Met) | |
19 | g.35839508C= | CA2333846097 | NPHS1 | c.2915G= (p.Arg972=) | |
19 | g.35839508C>G | CA405385791 | NPHS1 | c.2915G>C (p.Arg972Thr) | |
19 | g.35839508C>T | CA405385795 | NPHS1 | c.2915G>A (p.Arg972Lys) | dbSNP |
19 | g.35839509T>A | CA405385798 | NPHS1 | c.2914A>T (p.Arg972Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35839509T>C | CA405385802 | NPHS1 | c.2914A>G (p.Arg972Gly) | |
19 | g.35839509T>G | CA507314092 | NPHS1 | c.2914A>C (p.Arg972=) | |
19 | g.35839509T= | CA2333846098 | NPHS1 | c.2914A= (p.Arg972=) | |
19 | g.35839510C>A | CA405385805 | NPHS1 | c.2913G>T (p.Gln971His) | |
19 | g.35839510C>G | CA405385807 | NPHS1 | c.2913G>C (p.Gln971His) | |
19 | g.35839510C>T | CA507314095 | NPHS1 | c.2913G>A (p.Gln971=) | COSMIC |
19 | g.35839511T>A | CA405385813 | NPHS1 | c.2912A>T (p.Gln971Leu) | |
19 | g.35839511T>C | CA9389984 | NPHS1 | c.2912A>G (p.Gln971Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35839511T>G | CA405385810 | NPHS1 | c.2912A>C (p.Gln971Pro) | |
19 | g.35839511T= | CA2333846099 | NPHS1 | c.2912A= (p.Gln971=) | |
19 | g.35839512G>A | CA405385819 | NPHS1 | c.2911C>T (p.Gln971Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35839512G>C | CA405385825 | NPHS1 | c.2911C>G (p.Gln971Glu) | |
19 | g.35839512G= | CA2333846100 | NPHS1 | c.2911C= (p.Gln971=) | |
19 | g.35839512G>T | CA405385823 | NPHS1 | c.2911C>A (p.Gln971Lys) | |
19 | g.35839513T>A | CA507314096 | NPHS1 | c.2910A>T (p.Pro970=) | |
19 | g.35839513T>C | CA507314097 | NPHS1 | c.2910A>G (p.Pro970=) | |
19 | g.35839513T>G | CA507314098 | NPHS1 | c.2910A>C (p.Pro970=) | |
19 | g.35839514G>A | CA9389985 | NPHS1 | c.2909C>T (p.Pro970Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35839514G>C | CA405385831 | NPHS1 | c.2909C>G (p.Pro970Arg) | |
19 | g.35839514G= | CA2333846101 | NPHS1 | c.2909C= (p.Pro970=) | |
19 | g.35839514G>T | CA405385834 | NPHS1 | c.2909C>A (p.Pro970Gln) | |
19 | g.35839515G>A | CA405385839 | NPHS1 | c.2908C>T (p.Pro970Ser) | gnomAD v4 |
19 | g.35839515G>C | CA405385841 | NPHS1 | c.2908C>G (p.Pro970Ala) | |
19 | g.35839515G>T | CA405385844 | NPHS1 | c.2908C>A (p.Pro970Thr) | |
19 | g.35839516C>A | CA507314100 | NPHS1 | c.2907G>T (p.Leu969=) | COSMIC |
19 | g.35839516C= | CA2333846102 | NPHS1 | c.2907G= (p.Leu969=) | |
19 | g.35839516C>G | CA507314101 | NPHS1 | c.2907G>C (p.Leu969=) | |
19 | g.35839516C>T | CA507314102 | NPHS1 | c.2907G>A (p.Leu969=) | dbSNP |
19 | g.35839517A>C | CA405385846 | NPHS1 | c.2906T>G (p.Leu969Arg) | |
19 | g.35839517A>G | CA405385850 | NPHS1 | c.2906T>C (p.Leu969Pro) |