Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35841709_35841713delinsCCATA | CA2333847179 | NPHS1 | c.2815+2_2815+6delinsTATGG (n.2815+2_2815+6delinsTATGG) | |
19 | g.35841710C= | CA2333847180 | NPHS1 | c.2815+5G= (n.2815+5G=) | |
19 | g.35841710C>T | CA250212 | NPHS1 | c.2815+5G>A (n.2815+5G>A) | ClinVar dbSNP |
19 | g.35841711_35841714del | CA632776569 | NPHS1 | c.2815+2_2815+5del (n.2815+2_2815+5del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35841711A= | CA2333847181 | NPHS1 | c.2815+4T= (n.2815+4T=) | |
19 | g.35841711A>G | CA307781861 | NPHS1 | c.2815+4T>C (n.2815+4T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841712T>C | CA658824410 | NPHS1 | c.2815+3A>G (n.2815+3A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35841712T= | CA2333847182 | NPHS1 | c.2815+3A= (n.2815+3A=) | |
19 | g.35841713A>C | CA405388901 | NPHS1 | c.2815+2T>G (n.2815+2T>G) | |
19 | g.35841713A>G | CA405388918 | NPHS1 | c.2815+2T>C (n.2815+2T>C) | gnomAD v4 |
19 | g.35841713A>T | CA405388924 | NPHS1 | c.2815+2T>A (n.2815+2T>A) | |
19 | g.35841714C>A | CA405388930 | NPHS1 | c.2815+1G>T (n.2815+1G>T) | |
19 | g.35841714C>G | CA405388939 | NPHS1 | c.2815+1G>C (n.2815+1G>C) | ClinVar dbSNP |
19 | g.35841714C>T | CA405388944 | NPHS1 | c.2815+1G>A (n.2815+1G>A) | gnomAD v4 |
19 | g.35841715T>A | CA405388949 | NPHS1 | c.2815A>T (p.Ser939Cys) | |
19 | g.35841715T>C | CA405388950 | NPHS1 | c.2815A>G (p.Ser939Gly) | gnomAD v4 |
19 | g.35841715T>G | CA405388957 | NPHS1 | c.2815A>C (p.Ser939Arg) | |
19 | g.35841716G>A | CA307781864 | NPHS1 | c.2814C>T (p.Ile938=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35841716G>C | CA405388960 | NPHS1 | c.2814C>G (p.Ile938Met) | |
19 | g.35841716G= | CA2333847183 | NPHS1 | c.2814C= (p.Ile938=) | |
19 | g.35841716G>T | CA507075166 | NPHS1 | c.2814C>A (p.Ile938=) | |
19 | g.35841717A= | CA2333847184 | NPHS1 | c.2813T= (p.Ile938=) | |
19 | g.35841717A>C | CA405388976 | NPHS1 | c.2813T>G (p.Ile938Ser) | |
19 | g.35841717A>G | CA405388985 | NPHS1 | c.2813T>C (p.Ile938Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841717A>T | CA405388983 | NPHS1 | c.2813T>A (p.Ile938Asn) | |
19 | g.35841718T>A | CA405388987 | NPHS1 | c.2812A>T (p.Ile938Phe) | |
19 | g.35841718T>C | CA405388991 | NPHS1 | c.2812A>G (p.Ile938Val) | |
19 | g.35841718T>G | CA405388996 | NPHS1 | c.2812A>C (p.Ile938Leu) | |
19 | g.35841719G>A | CA507075171 | NPHS1 | c.2811C>T (p.Ser937=) | |
19 | g.35841719G>C | CA405389003 | NPHS1 | c.2811C>G (p.Ser937Arg) | |
19 | g.35841719G>T | CA405389023 | NPHS1 | c.2811C>A (p.Ser937Arg) | |
19 | g.35841720C>A | CA405389026 | NPHS1 | c.2810G>T (p.Ser937Ile) | |
19 | g.35841720C= | CA2333847185 | NPHS1 | c.2810G= (p.Ser937=) | |
19 | g.35841720C>G | CA405389030 | NPHS1 | c.2810G>C (p.Ser937Thr) | |
19 | g.35841720C>T | CA9390026 | NPHS1 | c.2810G>A (p.Ser937Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841721T>A | CA405389036 | NPHS1 | c.2809A>T (p.Ser937Cys) | |
19 | g.35841721T>C | CA405389045 | NPHS1 | c.2809A>G (p.Ser937Gly) | |
19 | g.35841721T>G | CA405389052 | NPHS1 | c.2809A>C (p.Ser937Arg) | |
19 | g.35841721T= | CA2333847186 | NPHS1 | c.2809A= (p.Ser937=) | |
19 | g.35841722G>A | CA507075172 | NPHS1 | c.2808C>T (p.Val936=) | ClinVar dbSNP |
19 | g.35841722G>C | CA507075175 | NPHS1 | c.2808C>G (p.Val936=) | |
19 | g.35841722G>T | CA507075174 | NPHS1 | c.2808C>A (p.Val936=) | |
19 | g.35841722dup | CA2333847187 | NPHS1 | c.2808dup (p.Ser937GlnfsTer6) | dbSNP gnomAD v4 |
19 | g.35841723A>C | CA405389068 | NPHS1 | c.2807T>G (p.Val936Gly) | |
19 | g.35841723A>G | CA405389058 | NPHS1 | c.2807T>C (p.Val936Ala) | |
19 | g.35841723A>T | CA405389062 | NPHS1 | c.2807T>A (p.Val936Asp) | |
19 | g.35841724C>A | CA405389075 | NPHS1 | c.2806G>T (p.Val936Phe) | |
19 | g.35841724C>G | CA405389079 | NPHS1 | c.2806G>C (p.Val936Leu) | |
19 | g.35841724C>T | CA405389083 | NPHS1 | c.2806G>A (p.Val936Ile) | |
19 | g.35841725A>C | CA507075181 | NPHS1 | c.2805T>G (p.Leu935=) |