Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38349433T>A | CA489922828 | SPRED1 | c.594T>A (p.Gly198=) c.630T>A (p.Gly210=) c.372T>A (p.Gly124=) c.531T>A (p.Gly177=) | |
15 | g.38349433T>C | CA7470134 | SPRED1 | c.594T>C (p.Gly198=) c.630T>C (p.Gly210=) c.372T>C (p.Gly124=) c.531T>C (p.Gly177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349433T>G | CA489922829 | SPRED1 | c.594T>G (p.Gly198=) c.630T>G (p.Gly210=) c.372T>G (p.Gly124=) c.531T>G (p.Gly177=) | gnomAD v4 |
15 | g.38349433T= | CA2170811813 | SPRED1 | c.594T= (p.Gly198=) c.630T= (p.Gly210=) c.372T= (p.Gly124=) c.531T= (p.Gly177=) | |
15 | g.38349434C>A | CA391932794 | SPRED1 | c.595C>A (p.Gln199Lys) c.631C>A (p.Gln211Lys) c.373C>A (p.Gln125Lys) c.532C>A (p.Gln178Lys) | gnomAD v4 |
15 | g.38349434C>G | CA391932792 | SPRED1 | c.595C>G (p.Gln199Glu) c.631C>G (p.Gln211Glu) c.373C>G (p.Gln125Glu) c.532C>G (p.Gln178Glu) | |
15 | g.38349434C>T | CA391932793 | SPRED1 | c.595C>T (p.Gln199Ter) c.631C>T (p.Gln211Ter) c.373C>T (p.Gln125Ter) c.532C>T (p.Gln178Ter) | |
15 | g.38349435A>C | CA391932795 | SPRED1 | c.596A>C (p.Gln199Pro) c.632A>C (p.Gln211Pro) c.374A>C (p.Gln125Pro) c.533A>C (p.Gln178Pro) | |
15 | g.38349435A>G | CA391932796 | SPRED1 | c.596A>G (p.Gln199Arg) c.632A>G (p.Gln211Arg) c.374A>G (p.Gln125Arg) c.533A>G (p.Gln178Arg) | |
15 | g.38349435A>T | CA391932797 | SPRED1 | c.596A>T (p.Gln199Leu) c.632A>T (p.Gln211Leu) c.374A>T (p.Gln125Leu) c.533A>T (p.Gln178Leu) | |
15 | g.38349436G>A | CA489922830 | SPRED1 | c.597G>A (p.Gln199=) c.633G>A (p.Gln211=) c.375G>A (p.Gln125=) c.534G>A (p.Gln178=) | dbSNP |
15 | g.38349436G>C | CA391932798 | SPRED1 | c.597G>C (p.Gln199His) c.633G>C (p.Gln211His) c.375G>C (p.Gln125His) c.534G>C (p.Gln178His) | |
15 | g.38349436G= | CA2170811814 | SPRED1 | c.597G= (p.Gln199=) c.633G= (p.Gln211=) c.375G= (p.Gln125=) c.534G= (p.Gln178=) | |
15 | g.38349436G>T | CA391932799 | SPRED1 | c.597G>T (p.Gln199His) c.633G>T (p.Gln211His) c.375G>T (p.Gln125His) c.534G>T (p.Gln178His) | gnomAD v4 |
15 | g.38349437C>A | CA391932800 | SPRED1 | c.598C>A (p.Pro200Thr) c.634C>A (p.Pro212Thr) c.376C>A (p.Pro126Thr) c.535C>A (p.Pro179Thr) | |
15 | g.38349437C>G | CA391932801 | SPRED1 | c.598C>G (p.Pro200Ala) c.634C>G (p.Pro212Ala) c.376C>G (p.Pro126Ala) c.535C>G (p.Pro179Ala) | |
15 | g.38349437C>T | CA391932802 | SPRED1 | c.598C>T (p.Pro200Ser) c.634C>T (p.Pro212Ser) c.376C>T (p.Pro126Ser) c.535C>T (p.Pro179Ser) | |
15 | g.38349438C>A | CA391932803 | SPRED1 | c.599C>A (p.Pro200Gln) c.635C>A (p.Pro212Gln) c.377C>A (p.Pro126Gln) c.536C>A (p.Pro179Gln) | |
15 | g.38349438C= | CA2170811815 | SPRED1 | c.599C= (p.Pro200=) c.635C= (p.Pro212=) c.377C= (p.Pro126=) c.536C= (p.Pro179=) | |
15 | g.38349438C>G | CA391932804 | SPRED1 | c.599C>G (p.Pro200Arg) c.635C>G (p.Pro212Arg) c.377C>G (p.Pro126Arg) c.536C>G (p.Pro179Arg) | |
15 | g.38349438C>T | CA7470135 | SPRED1 | c.599C>T (p.Pro200Leu) c.635C>T (p.Pro212Leu) c.377C>T (p.Pro126Leu) c.536C>T (p.Pro179Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349439A>C | CA489922833 | SPRED1 | c.600A>C (p.Pro200=) c.636A>C (p.Pro212=) c.378A>C (p.Pro126=) c.537A>C (p.Pro179=) | |
15 | g.38349439A>G | CA489922831 | SPRED1 | c.600A>G (p.Pro200=) c.636A>G (p.Pro212=) c.378A>G (p.Pro126=) c.537A>G (p.Pro179=) | gnomAD v4 |
15 | g.38349439A>T | CA489922832 | SPRED1 | c.600A>T (p.Pro200=) c.636A>T (p.Pro212=) c.378A>T (p.Pro126=) c.537A>T (p.Pro179=) | |
15 | g.38349440G>A | CA391932807 | SPRED1 | c.601G>A (p.Gly201Ser) c.637G>A (p.Gly213Ser) c.379G>A (p.Gly127Ser) c.538G>A (p.Gly180Ser) | |
15 | g.38349440G>C | CA391932806 | SPRED1 | c.601G>C (p.Gly201Arg) c.637G>C (p.Gly213Arg) c.379G>C (p.Gly127Arg) c.538G>C (p.Gly180Arg) | |
15 | g.38349440G>T | CA391932805 | SPRED1 | c.601G>T (p.Gly201Cys) c.637G>T (p.Gly213Cys) c.379G>T (p.Gly127Cys) c.538G>T (p.Gly180Cys) | |
15 | g.38349441G>A | CA391932808 | SPRED1 | c.602G>A (p.Gly201Asp) c.638G>A (p.Gly213Asp) c.380G>A (p.Gly127Asp) c.539G>A (p.Gly180Asp) | |
15 | g.38349441G>C | CA391932809 | SPRED1 | c.602G>C (p.Gly201Ala) c.638G>C (p.Gly213Ala) c.380G>C (p.Gly127Ala) c.539G>C (p.Gly180Ala) | gnomAD v4 |
15 | g.38349441G= | CA2170811816 | SPRED1 | c.602G= (p.Gly201=) c.638G= (p.Gly213=) c.380G= (p.Gly127=) c.539G= (p.Gly180=) | |
15 | g.38349441G>T | CA391932810 | SPRED1 | c.602G>T (p.Gly201Val) c.638G>T (p.Gly213Val) c.380G>T (p.Gly127Val) c.539G>T (p.Gly180Val) | ClinVar dbSNP |
15 | g.38349442C>A | CA489922834 | SPRED1 | c.603C>A (p.Gly201=) c.639C>A (p.Gly213=) c.381C>A (p.Gly127=) c.540C>A (p.Gly180=) | |
15 | g.38349442C= | CA2170811817 | SPRED1 | c.603C= (p.Gly201=) c.639C= (p.Gly213=) c.381C= (p.Gly127=) c.540C= (p.Gly180=) | |
15 | g.38349442C>G | CA489922835 | SPRED1 | c.603C>G (p.Gly201=) c.639C>G (p.Gly213=) c.381C>G (p.Gly127=) c.540C>G (p.Gly180=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349442C>T | CA489922836 | SPRED1 | c.603C>T (p.Gly201=) c.639C>T (p.Gly213=) c.381C>T (p.Gly127=) c.540C>T (p.Gly180=) | |
15 | g.38349443T>A | CA391932811 | SPRED1 | c.604T>A (p.Leu202Met) c.640T>A (p.Leu214Met) c.382T>A (p.Leu128Met) c.541T>A (p.Leu181Met) | |
15 | g.38349443T>C | CA489922837 | SPRED1 | c.604T>C (p.Leu202=) c.640T>C (p.Leu214=) c.382T>C (p.Leu128=) c.541T>C (p.Leu181=) | dbSNP |
15 | g.38349443T>G | CA391932812 | SPRED1 | c.604T>G (p.Leu202Val) c.640T>G (p.Leu214Val) c.382T>G (p.Leu128Val) c.541T>G (p.Leu181Val) | dbSNP gnomAD v4 |
15 | g.38349443T= | CA2170811818 | SPRED1 | c.604T= (p.Leu202=) c.640T= (p.Leu214=) c.382T= (p.Leu128=) c.541T= (p.Leu181=) | |
15 | g.38349444T>A | CA391932813 | SPRED1 | c.605T>A (p.Leu202Ter) c.641T>A (p.Leu214Ter) c.383T>A (p.Leu128Ter) c.542T>A (p.Leu181Ter) | |
15 | g.38349444T>C | CA391932814 | SPRED1 | c.605T>C (p.Leu202Ser) c.641T>C (p.Leu214Ser) c.383T>C (p.Leu128Ser) c.542T>C (p.Leu181Ser) | ClinVar dbSNP |
15 | g.38349444T>G | CA391932815 | SPRED1 | c.605T>G (p.Leu202Trp) c.641T>G (p.Leu214Trp) c.383T>G (p.Leu128Trp) c.542T>G (p.Leu181Trp) | |
15 | g.38349444T= | CA2170811819 | SPRED1 | c.605T= (p.Leu202=) c.641T= (p.Leu214=) c.383T= (p.Leu128=) c.542T= (p.Leu181=) | |
15 | g.38349445G>A | CA489922838 | SPRED1 | c.606G>A (p.Leu202=) c.642G>A (p.Leu214=) c.384G>A (p.Leu128=) c.543G>A (p.Leu181=) | dbSNP |
15 | g.38349445G>C | CA391932816 | SPRED1 | c.606G>C (p.Leu202Phe) c.642G>C (p.Leu214Phe) c.384G>C (p.Leu128Phe) c.543G>C (p.Leu181Phe) | |
15 | g.38349445G= | CA2170811820 | SPRED1 | c.606G= (p.Leu202=) c.642G= (p.Leu214=) c.384G= (p.Leu128=) c.543G= (p.Leu181=) | |
15 | g.38349445G>T | CA391932817 | SPRED1 | c.606G>T (p.Leu202Phe) c.642G>T (p.Leu214Phe) c.384G>T (p.Leu128Phe) c.543G>T (p.Leu181Phe) | |
15 | g.38349446G>A | CA7470136 | SPRED1 | c.607G>A (p.Asp203Asn) c.643G>A (p.Asp215Asn) c.385G>A (p.Asp129Asn) c.544G>A (p.Asp182Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349446G>C | CA391932818 | SPRED1 | c.607G>C (p.Asp203His) c.643G>C (p.Asp215His) c.385G>C (p.Asp129His) c.544G>C (p.Asp182His) | |
15 | g.38349446G= | CA2170811821 | SPRED1 | c.607G= (p.Asp203=) c.643G= (p.Asp215=) c.385G= (p.Asp129=) c.544G= (p.Asp182=) |