Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.71781472G>A | CA252842 | PROK2 | c.217C>T (p.Arg73Cys) c.157C>T (p.Arg53Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.71781472G>C | CA76545942 | PROK2 | c.217C>G (p.Arg73Gly) c.157C>G (p.Arg53Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.71781472G>T | CA353500957 | PROK2 | c.217C>A (p.Arg73Ser) c.157C>A (p.Arg53Ser) | |
3 | g.71781473A>C | CA434161350 | PROK2 | c.216T>G (p.Thr72=) c.156T>G (p.Thr52=) | |
3 | g.71781473A>G | CA434161353 | PROK2 | c.216T>C (p.Thr72=) c.156T>C (p.Thr52=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.71781473A>T | CA434161355 | PROK2 | c.216T>A (p.Thr72=) c.156T>A (p.Thr52=) | gnomAD v4 |
3 | g.71781474G>A | CA2491996 | PROK2 | c.215C>T (p.Thr72Ile) c.155C>T (p.Thr52Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.71781474G>C | CA353500958 | PROK2 | c.215C>G (p.Thr72Ser) c.155C>G (p.Thr52Ser) | |
3 | g.71781474G>T | CA353500959 | PROK2 | c.215C>A (p.Thr72Asn) c.155C>A (p.Thr52Asn) | |
3 | g.71781475T>A | CA353500962 | PROK2 | c.214A>T (p.Thr72Ser) c.154A>T (p.Thr52Ser) | |
3 | g.71781475T>C | CA353500960 | PROK2 | c.214A>G (p.Thr72Ala) c.154A>G (p.Thr52Ala) | dbSNP |
3 | g.71781475T>G | CA353500961 | PROK2 | c.214A>C (p.Thr72Pro) c.154A>C (p.Thr52Pro) | |
3 | g.71781476C>A | CA434161364 | PROK2 | c.213G>T (p.Leu71=) c.153G>T (p.Leu51=) | |
3 | g.71781476C>G | CA434161366 | PROK2 | c.213G>C (p.Leu71=) c.153G>C (p.Leu51=) | |
3 | g.71781476C>T | CA434161367 | PROK2 | c.213G>A (p.Leu71=) c.153G>A (p.Leu51=) | |
3 | g.71781477A>C | CA353500963 | PROK2 | c.212T>G (p.Leu71Arg) c.152T>G (p.Leu51Arg) | |
3 | g.71781477A>G | CA353500964 | PROK2 | c.212T>C (p.Leu71Pro) c.152T>C (p.Leu51Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.71781477A>T | CA353500965 | PROK2 | c.212T>A (p.Leu71Gln) c.152T>A (p.Leu51Gln) | |
3 | g.71781478G>A | CA434161372 | PROK2 | c.211C>T (p.Leu71=) c.151C>T (p.Leu51=) | gnomAD v4 |
3 | g.71781478G>C | CA353500966 | PROK2 | c.211C>G (p.Leu71Val) c.151C>G (p.Leu51Val) | |
3 | g.71781478G>T | CA353500967 | PROK2 | c.211C>A (p.Leu71Met) c.151C>A (p.Leu51Met) | |
3 | g.71781479T>A | CA434161376 | PROK2 | c.210A>T (p.Pro70=) c.150A>T (p.Pro50=) | |
3 | g.71781479T>C | CA434161380 | PROK2 | c.210A>G (p.Pro70=) c.150A>G (p.Pro50=) | |
3 | g.71781479T>G | CA434161378 | PROK2 | c.210A>C (p.Pro70=) c.150A>C (p.Pro50=) | |
3 | g.71781480G>A | CA353500968 | PROK2 | c.209C>T (p.Pro70Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.71781480G>C | CA353500969 | PROK2 | c.209C>G (p.Pro70Arg) c.149C>G (p.Pro50Arg) | |
3 | g.71781480G>T | CA353500970 | PROK2 | c.209C>A (p.Pro70Gln) c.149C>A (p.Pro50Gln) | |
3 | g.71781481G>A | CA353500971 | PROK2 | c.208C>T (p.Pro70Ser) c.148C>T (p.Pro50Ser) | |
3 | g.71781481G>C | CA353500972 | PROK2 | c.208C>G (p.Pro70Ala) c.148C>G (p.Pro50Ala) | |
3 | g.71781481G>T | CA353500973 | PROK2 | c.208C>A (p.Pro70Thr) c.148C>A (p.Pro50Thr) | |
3 | g.71781482A>C | CA353500974 | PROK2 | c.207T>G (p.His69Gln) c.147T>G (p.His49Gln) | |
3 | g.71781482A>G | CA434161390 | PROK2 | c.207T>C (p.His69=) c.147T>C (p.His49=) | gnomAD v4 |
3 | g.71781482A>T | CA353500975 | PROK2 | c.207T>A (p.His69Gln) c.147T>A (p.His49Gln) | |
3 | g.71781483T>A | CA353500976 | PROK2 | c.206A>T (p.His69Leu) c.146A>T (p.His49Leu) | |
3 | g.71781483T>C | CA353500978 | PROK2 | c.206A>G (p.His69Arg) c.146A>G (p.His49Arg) | |
3 | g.71781483T>G | CA353500977 | PROK2 | c.206A>C (p.His69Pro) c.146A>C (p.His49Pro) | |
3 | g.71781484G>A | CA353500979 | PROK2 | c.205C>T (p.His69Tyr) c.145C>T (p.His49Tyr) | ClinVar |
3 | g.71781484G>C | CA353500980 | PROK2 | c.205C>G (p.His69Asp) c.145C>G (p.His49Asp) | |
3 | g.71781484G>T | CA353500981 | PROK2 | c.205C>A (p.His69Asn) c.145C>A (p.His49Asn) | |
3 | g.71781485G>A | CA76545951 | PROK2 | c.204C>T (p.Cys68=) c.144C>T (p.Cys48=) | dbSNP gnomAD v4 |
3 | g.71781485G>C | CA353500982 | PROK2 | c.204C>G (p.Cys68Trp) c.144C>G (p.Cys48Trp) | |
3 | g.71781485G>T | CA353500983 | PROK2 | c.204C>A (p.Cys68Ter) c.144C>A (p.Cys48Ter) | |
3 | g.71781486C>A | CA353500984 | PROK2 | c.203G>T (p.Cys68Phe) c.143G>T (p.Cys48Phe) | |
3 | g.71781486C>G | CA353500985 | PROK2 | c.203G>C (p.Cys68Ser) c.143G>C (p.Cys48Ser) | |
3 | g.71781486C>T | CA353500986 | PROK2 | c.203G>A (p.Cys68Tyr) c.143G>A (p.Cys48Tyr) | |
3 | g.71781487A>C | CA353500987 | PROK2 | c.202T>G (p.Cys68Gly) c.142T>G (p.Cys48Gly) | |
3 | g.71781487A>G | CA353500988 | PROK2 | c.202T>C (p.Cys68Arg) c.142T>C (p.Cys48Arg) | |
3 | g.71781487A>T | CA353500989 | PROK2 | c.202T>A (p.Cys68Ser) c.142T>A (p.Cys48Ser) | |
3 | g.71781488G>A | CA434161405 | PROK2 | c.201C>T (p.Ser67=) c.141C>T (p.Ser47=) | |
3 | g.71781488G>C | CA2491997 | PROK2 | c.201C>G (p.Ser67Arg) c.141C>G (p.Ser47Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |