Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35851509del | CA2580096902 | NPHS1 | c.225del (p.Arg76GlyfsTer?) | ClinVar |
19 | g.35851510_35851515del | CA2741627993 | NPHS1 | c.220_225del (p.Asp74_Pro75del) | |
19 | g.35851509G>A | CA507314969 | NPHS1 | c.222C>T (p.Asp74=) | gnomAD v4 |
19 | g.35851509G>C | CA405411439 | NPHS1 | c.222C>G (p.Asp74Glu) | |
19 | g.35851509G>T | CA405411441 | NPHS1 | c.222C>A (p.Asp74Glu) | COSMIC |
19 | g.35851510T>A | CA405411443 | NPHS1 | c.221A>T (p.Asp74Val) | |
19 | g.35851510T>C | CA405411445 | NPHS1 | c.221A>G (p.Asp74Gly) | |
19 | g.35851510T>G | CA405411447 | NPHS1 | c.221A>C (p.Asp74Ala) | |
19 | g.35851511C>A | CA405411451 | NPHS1 | c.220G>T (p.Asp74Tyr) | |
19 | g.35851511C= | CA2333851873 | NPHS1 | c.220G= (p.Asp74=) | |
19 | g.35851511C>G | CA405411450 | NPHS1 | c.220G>C (p.Asp74His) | |
19 | g.35851511C>T | CA9390879 | NPHS1 | c.220G>A (p.Asp74Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851512G>A | CA9390880 | NPHS1 | c.219C>T (p.Pro73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851512G>C | CA507314970 | NPHS1 | c.219C>G (p.Pro73=) | |
19 | g.35851512G= | CA2333851874 | NPHS1 | c.219C= (p.Pro73=) | |
19 | g.35851512G>T | CA507314971 | NPHS1 | c.219C>A (p.Pro73=) | |
19 | g.35851515del | CA633061027 | NPHS1 | c.219del (p.Asp74ThrfsTer?) | gnomAD v2 |
19 | g.35851513G>A | CA9390881 | NPHS1 | c.218C>T (p.Pro73Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851513G>C | CA405411455 | NPHS1 | c.218C>G (p.Pro73Arg) | gnomAD v4 |
19 | g.35851513G= | CA2333851875 | NPHS1 | c.218C= (p.Pro73=) | |
19 | g.35851513G>T | CA405411456 | NPHS1 | c.218C>A (p.Pro73His) | |
19 | g.35851514G>A | CA9390882 | NPHS1 | c.217C>T (p.Pro73Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851514G>C | CA405411460 | NPHS1 | c.217C>G (p.Pro73Ala) | |
19 | g.35851514G= | CA2333851876 | NPHS1 | c.217C= (p.Pro73=) | |
19 | g.35851514G>T | CA405411461 | NPHS1 | c.217C>A (p.Pro73Thr) | |
19 | g.35851515G>A | CA507314972 | NPHS1 | c.216C>T (p.Gly72=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851515G>C | CA9390884 | NPHS1 | c.216C>G (p.Gly72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35851515G= | CA2333851877 | NPHS1 | c.216C= (p.Gly72=) | |
19 | g.35851515G>T | CA9390883 | NPHS1 | c.216C>A (p.Gly72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851516C>A | CA405411465 | NPHS1 | c.215G>T (p.Gly72Val) | COSMIC |
19 | g.35851516C>G | CA405411466 | NPHS1 | c.215G>C (p.Gly72Ala) | |
19 | g.35851516C>T | CA405411468 | NPHS1 | c.215G>A (p.Gly72Asp) | |
19 | g.35851517C>A | CA405411474 | NPHS1 | c.214G>T (p.Gly72Cys) | dbSNP |
19 | g.35851517C>G | CA405411472 | NPHS1 | c.214G>C (p.Gly72Arg) | |
19 | g.35851517C>T | CA405411470 | NPHS1 | c.214G>A (p.Gly72Ser) | |
19 | g.35851518C>A | CA507314973 | NPHS1 | c.213G>T (p.Leu71=) | |
19 | g.35851518C= | CA2333851878 | NPHS1 | c.213G= (p.Leu71=) | |
19 | g.35851518C>G | CA507314974 | NPHS1 | c.213G>C (p.Leu71=) | |
19 | g.35851518C>T | CA507314975 | NPHS1 | c.213G>A (p.Leu71=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851519del | CA2580096903 | NPHS1 | c.212del (p.Leu71ArgfsTer?) | ClinVar |
19 | g.35851519A= | CA2333851879 | NPHS1 | c.212T= (p.Leu71=) | |
19 | g.35851519A>C | CA405411476 | NPHS1 | c.212T>G (p.Leu71Arg) | |
19 | g.35851519A>G | CA405411478 | NPHS1 | c.212T>C (p.Leu71Pro) | ClinVar dbSNP |
19 | g.35851519A>T | CA405411480 | NPHS1 | c.212T>A (p.Leu71Gln) | COSMIC |
19 | g.35851520G>A | CA507314976 | NPHS1 | c.211C>T (p.Leu71=) | dbSNP gnomAD v2 |
19 | g.35851520G>C | CA405411482 | NPHS1 | c.211C>G (p.Leu71Val) | |
19 | g.35851520G= | CA2333851880 | NPHS1 | c.211C= (p.Leu71=) | |
19 | g.35851520G>T | CA405411485 | NPHS1 | c.211C>A (p.Leu71Met) | |
19 | g.35851521G>A | CA9390885 | NPHS1 | c.210C>T (p.Leu70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35851521G>C | CA507314977 | NPHS1 | c.210C>G (p.Leu70=) |