| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38349465_38349475del | CA2695197208 | SPRED1 | c.626_636del (p.Met209ThrfsTer16) c.662_672del (p.Met221ThrfsTer16) c.404_414del (p.Met135ThrfsTer16) c.563_573del (p.Met188ThrfsTer16) | ClinVar |
| 15 | g.38349473G>A | CA7470143 | SPRED1 | c.634G>A (p.Val212Ile) c.670G>A (p.Val224Ile) c.412G>A (p.Val138Ile) c.571G>A (p.Val191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.38349473G>C | CA391932885 | SPRED1 | c.634G>C (p.Val212Leu) c.670G>C (p.Val224Leu) c.412G>C (p.Val138Leu) c.571G>C (p.Val191Leu) | |
| 15 | g.38349473G= | CA2170811830 | SPRED1 | c.634G= (p.Val212=) c.670G= (p.Val224=) c.412G= (p.Val138=) c.571G= (p.Val191=) | |
| 15 | g.38349473G>T | CA391932886 | SPRED1 | c.634G>T (p.Val212Leu) c.670G>T (p.Val224Leu) c.412G>T (p.Val138Leu) c.571G>T (p.Val191Leu) | |
| 15 | g.38349474T>A | CA391932887 | SPRED1 | c.635T>A (p.Val212Glu) c.671T>A (p.Val224Glu) c.413T>A (p.Val138Glu) c.572T>A (p.Val191Glu) | |
| 15 | g.38349474T>C | CA391932888 | SPRED1 | c.635T>C (p.Val212Ala) c.671T>C (p.Val224Ala) c.413T>C (p.Val138Ala) c.572T>C (p.Val191Ala) | |
| 15 | g.38349474T>G | CA391932889 | SPRED1 | c.635T>G (p.Val212Gly) c.671T>G (p.Val224Gly) c.413T>G (p.Val138Gly) c.572T>G (p.Val191Gly) | |
| 15 | g.38349475A= | CA2170811831 | SPRED1 | c.636A= (p.Val212=) c.672A= (p.Val224=) c.414A= (p.Val138=) c.573A= (p.Val191=) | |
| 15 | g.38349475A>C | CA16606923 | SPRED1 | c.636A>C (p.Val212=) c.672A>C (p.Val224=) c.414A>C (p.Val138=) c.573A>C (p.Val191=) | ClinVar dbSNP |
| 15 | g.38349475A>G | CA489922846 | SPRED1 | c.636A>G (p.Val212=) c.672A>G (p.Val224=) c.414A>G (p.Val138=) c.573A>G (p.Val191=) | |
| 15 | g.38349475A>T | CA489922847 | SPRED1 | c.636A>T (p.Val212=) c.672A>T (p.Val224=) c.414A>T (p.Val138=) c.573A>T (p.Val191=) | |
| 15 | g.38349476C>A | CA391932890 | SPRED1 | c.637C>A (p.Gln213Lys) c.673C>A (p.Gln225Lys) c.415C>A (p.Gln139Lys) c.574C>A (p.Gln192Lys) | |
| 15 | g.38349476C= | CA2170811832 | SPRED1 | c.637C= (p.Gln213=) c.673C= (p.Gln225=) c.415C= (p.Gln139=) c.574C= (p.Gln192=) | |
| 15 | g.38349476C>G | CA391932891 | SPRED1 | c.637C>G (p.Gln213Glu) c.673C>G (p.Gln225Glu) c.415C>G (p.Gln139Glu) c.574C>G (p.Gln192Glu) | |
| 15 | g.38349476C>T | CA251957 | SPRED1 | c.637C>T (p.Gln213Ter) c.673C>T (p.Gln225Ter) c.415C>T (p.Gln139Ter) c.574C>T (p.Gln192Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38349477A>C | CA391932893 | SPRED1 | c.638A>C (p.Gln213Pro) c.674A>C (p.Gln225Pro) c.416A>C (p.Gln139Pro) c.575A>C (p.Gln192Pro) | gnomAD v4 |
| 15 | g.38349477A>G | CA391932894 | SPRED1 | c.638A>G (p.Gln213Arg) c.674A>G (p.Gln225Arg) c.416A>G (p.Gln139Arg) c.575A>G (p.Gln192Arg) | |
| 15 | g.38349477A>T | CA391932892 | SPRED1 | c.638A>T (p.Gln213Leu) c.674A>T (p.Gln225Leu) c.416A>T (p.Gln139Leu) c.575A>T (p.Gln192Leu) | |
| 15 | g.38349478G>A | CA489922848 | SPRED1 | c.639G>A (p.Gln213=) c.675G>A (p.Gln225=) c.417G>A (p.Gln139=) c.576G>A (p.Gln192=) | gnomAD v4 |
| 15 | g.38349478G>C | CA391932896 | SPRED1 | c.639G>C (p.Gln213His) c.675G>C (p.Gln225His) c.417G>C (p.Gln139His) c.576G>C (p.Gln192His) | |
| 15 | g.38349478G>T | CA391932895 | SPRED1 | c.639G>T (p.Gln213His) c.675G>T (p.Gln225His) c.417G>T (p.Gln139His) c.576G>T (p.Gln192His) | |
| 15 | g.38349479C>A | CA269293276 | SPRED1 | c.640C>A (p.Arg214=) c.676C>A (p.Arg226=) c.418C>A (p.Arg140=) c.577C>A (p.Arg193=) | dbSNP |
| 15 | g.38349479C= | CA2170811833 | SPRED1 | c.640C= (p.Arg214=) c.676C= (p.Arg226=) c.418C= (p.Arg140=) c.577C= (p.Arg193=) | |
| 15 | g.38349479C>G | CA391932897 | SPRED1 | c.640C>G (p.Arg214Gly) c.676C>G (p.Arg226Gly) c.418C>G (p.Arg140Gly) c.577C>G (p.Arg193Gly) | |
| 15 | g.38349479C>T | CA7470144 | SPRED1 | c.640C>T (p.Arg214Trp) c.676C>T (p.Arg226Trp) c.418C>T (p.Arg140Trp) c.577C>T (p.Arg193Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38349480G>A | CA269293277 | SPRED1 | c.641G>A (p.Arg214Gln) c.677G>A (p.Arg226Gln) c.419G>A (p.Arg140Gln) c.578G>A (p.Arg193Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38349480G>C | CA391932899 | SPRED1 | c.641G>C (p.Arg214Pro) c.677G>C (p.Arg226Pro) c.419G>C (p.Arg140Pro) c.578G>C (p.Arg193Pro) | |
| 15 | g.38349480G= | CA2170811834 | SPRED1 | c.641G= (p.Arg214=) c.677G= (p.Arg226=) c.419G= (p.Arg140=) c.578G= (p.Arg193=) | |
| 15 | g.38349480G>T | CA391932898 | SPRED1 | c.641G>T (p.Arg214Leu) c.677G>T (p.Arg226Leu) c.419G>T (p.Arg140Leu) c.578G>T (p.Arg193Leu) | |
| 15 | g.38349481G>A | CA489922850 | SPRED1 | c.642G>A (p.Arg214=) c.678G>A (p.Arg226=) c.420G>A (p.Arg140=) c.579G>A (p.Arg193=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38349481G>C | CA489922851 | SPRED1 | c.642G>C (p.Arg214=) c.678G>C (p.Arg226=) c.420G>C (p.Arg140=) c.579G>C (p.Arg193=) | |
| 15 | g.38349481G= | CA2170811835 | SPRED1 | c.642G= (p.Arg214=) c.678G= (p.Arg226=) c.420G= (p.Arg140=) c.579G= (p.Arg193=) | |
| 15 | g.38349481G>T | CA489922852 | SPRED1 | c.642G>T (p.Arg214=) c.678G>T (p.Arg226=) c.420G>T (p.Arg140=) c.579G>T (p.Arg193=) | |
| 15 | g.38349482C>A | CA391932900 | SPRED1 | c.643C>A (p.Gln215Lys) c.679C>A (p.Gln227Lys) c.421C>A (p.Gln141Lys) c.580C>A (p.Gln194Lys) | |
| 15 | g.38349482C= | CA2170811836 | SPRED1 | c.643C= (p.Gln215=) c.679C= (p.Gln227=) c.421C= (p.Gln141=) c.580C= (p.Gln194=) | |
| 15 | g.38349482C>G | CA7470145 | SPRED1 | c.643C>G (p.Gln215Glu) c.679C>G (p.Gln227Glu) c.421C>G (p.Gln141Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38349482C>T | CA251953 | SPRED1 | c.643C>T (p.Gln215Ter) c.679C>T (p.Gln227Ter) c.421C>T (p.Gln141Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP |
| 15 | g.38349483A>C | CA391932901 | SPRED1 | c.644A>C (p.Gln215Pro) c.680A>C (p.Gln227Pro) c.422A>C (p.Gln141Pro) c.581A>C (p.Gln194Pro) | gnomAD v4 |
| 15 | g.38349483A>G | CA391932902 | SPRED1 | c.644A>G (p.Gln215Arg) c.680A>G (p.Gln227Arg) c.422A>G (p.Gln141Arg) c.581A>G (p.Gln194Arg) | |
| 15 | g.38349483A>T | CA391932903 | SPRED1 | c.644A>T (p.Gln215Leu) c.680A>T (p.Gln227Leu) c.422A>T (p.Gln141Leu) c.581A>T (p.Gln194Leu) | |
| 15 | g.38349484A= | CA2170811837 | SPRED1 | c.645A= (p.Gln215=) c.681A= (p.Gln227=) c.423A= (p.Gln141=) c.582A= (p.Gln194=) | |
| 15 | g.38349484A>C | CA269293278 | SPRED1 | c.645A>C (p.Gln215His) c.681A>C (p.Gln227His) c.423A>C (p.Gln141His) c.582A>C (p.Gln194His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38349484A>G | CA489922853 | SPRED1 | c.645A>G (p.Gln215=) c.681A>G (p.Gln227=) c.423A>G (p.Gln141=) c.582A>G (p.Gln194=) | |
| 15 | g.38349484A>T | CA391932904 | SPRED1 | c.645A>T (p.Gln215His) c.681A>T (p.Gln227His) c.423A>T (p.Gln141His) c.582A>T (p.Gln194His) | |
| 15 | g.38349485A>C | CA391932905 | SPRED1 | c.646A>C (p.Ile216Leu) c.682A>C (p.Ile228Leu) c.424A>C (p.Ile142Leu) c.583A>C (p.Ile195Leu) | |
| 15 | g.38349485A>G | CA391932906 | SPRED1 | c.646A>G (p.Ile216Val) c.682A>G (p.Ile228Val) c.424A>G (p.Ile142Val) c.583A>G (p.Ile195Val) | |
| 15 | g.38349485A>T | CA391932907 | SPRED1 | c.646A>T (p.Ile216Leu) c.682A>T (p.Ile228Leu) c.424A>T (p.Ile142Leu) c.583A>T (p.Ile195Leu) | |
| 15 | g.38349486T>A | CA391932910 | SPRED1 | c.647T>A (p.Ile216Lys) c.683T>A (p.Ile228Lys) c.425T>A (p.Ile142Lys) c.584T>A (p.Ile195Lys) | |
| 15 | g.38349486T>C | CA391932908 | SPRED1 | c.647T>C (p.Ile216Thr) c.683T>C (p.Ile228Thr) c.425T>C (p.Ile142Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |