Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.47862362G>A | CA4740551 | PRKDC | c.5919+11C>T (n.5919+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47862362G>C | CA4740552 | PRKDC | c.5919+11C>G (n.5919+11C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.47862362G= | CA1781860360 | PRKDC | c.5919+11C= (n.5919+11C=) | |
8 | g.47862364G>C | CA581930035 | PRKDC | c.5919+9C>G (n.5919+9C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.47862364G= | CA1781860362 | PRKDC | c.5919+9C= (n.5919+9C=) | |
8 | g.47862365T>C | CA4740553 | PRKDC | c.5919+8A>G (n.5919+8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.47862365T= | CA1781860367 | PRKDC | c.5919+8A= (n.5919+8A=) | |
8 | g.47862368C= | CA1781860371 | PRKDC | c.5919+5G= (n.5919+5G=) | |
8 | g.47862368C>G | CA1781860373 | PRKDC | c.5919+5G>C (n.5919+5G>C) | dbSNP gnomAD v4 |
8 | g.47862368C>T | CA581930036 | PRKDC | c.5919+5G>A (n.5919+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.47862369C= | CA1781860375 | PRKDC | c.5919+4G= (n.5919+4G=) n.589G= | |
8 | g.47862369C>T | CA4740554 | PRKDC | c.5919+4G>A (n.5919+4G>A) n.589G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47862370T>C | CA2687202209 | PRKDC | c.5919+3A>G (n.5919+3A>G) n.588A>G | gnomAD v4 |
8 | g.47862370dup | CA2687202208 | PRKDC | c.5919+3dup (n.5919+3dup) n.588dup | gnomAD v4 |
8 | g.47862371A>C | CA371162089 | PRKDC | c.5919+2T>G (n.5919+2T>G) n.587T>G | |
8 | g.47862371A>G | CA371162090 | PRKDC | c.5919+2T>C (n.5919+2T>C) n.587T>C | |
8 | g.47862371A>T | CA371162091 | PRKDC | c.5919+2T>A (n.5919+2T>A) n.587T>A | |
8 | g.47862372C>A | CA371162093 | PRKDC | c.5919+1G>T (n.5919+1G>T) n.586G>T | |
8 | g.47862372C>G | CA371162095 | PRKDC | c.5919+1G>C (n.5919+1G>C) n.586G>C | |
8 | g.47862372C>T | CA371162096 | PRKDC | c.5919+1G>A (n.5919+1G>A) n.586G>A | |
8 | g.47862373C>A | CA371162098 | PRKDC | c.5919G>T (p.Lys1973Asn) n.585G>T | |
8 | g.47862373C>G | CA371162099 | PRKDC | c.5919G>C (p.Lys1973Asn) n.585G>C | |
8 | g.47862373C>T | CA460607477 | PRKDC | c.5919G>A (p.Lys1973=) n.585G>A | |
8 | g.47862374T>A | CA371162101 | PRKDC | c.5918A>T (p.Lys1973Met) n.584A>T | |
8 | g.47862374T>C | CA371162104 | PRKDC | c.5918A>G (p.Lys1973Arg) n.584A>G | |
8 | g.47862374T>G | CA371162103 | PRKDC | c.5918A>C (p.Lys1973Thr) n.584A>C | |
8 | g.47862375T>A | CA371162105 | PRKDC | c.5917A>T (p.Lys1973Ter) n.583A>T | |
8 | g.47862375T>C | CA371162108 | PRKDC | c.5917A>G (p.Lys1973Glu) n.583A>G | |
8 | g.47862375T>G | CA371162107 | PRKDC | c.5917A>C (p.Lys1973Gln) n.583A>C | |
8 | g.47862376T>A | CA371162110 | PRKDC | c.5916A>T (p.Glu1972Asp) n.582A>T | |
8 | g.47862376T>C | CA460607479 | PRKDC | c.5916A>G (p.Glu1972=) n.582A>G | |
8 | g.47862376T>G | CA371162111 | PRKDC | c.5916A>C (p.Glu1972Asp) n.582A>C | |
8 | g.47862377T>A | CA371162113 | PRKDC | c.5915A>T (p.Glu1972Val) n.581A>T | gnomAD v4 |
8 | g.47862377T>C | CA371162117 | PRKDC | c.5915A>G (p.Glu1972Gly) n.581A>G | |
8 | g.47862377T>G | CA371162115 | PRKDC | c.5915A>C (p.Glu1972Ala) n.581A>C | |
8 | g.47862378C>A | CA371162118 | PRKDC | c.5914G>T (p.Glu1972Ter) n.580G>T | |
8 | g.47862378C= | CA1781860378 | PRKDC | c.5914G= (p.Glu1972=) n.580G= | |
8 | g.47862378C>G | CA371162121 | PRKDC | c.5914G>C (p.Glu1972Gln) n.580G>C | |
8 | g.47862378C>T | CA371162120 | PRKDC | c.5914G>A (p.Glu1972Lys) n.580G>A | dbSNP |
8 | g.47862379T>A | CA460607481 | PRKDC | c.5913A>T (p.Pro1971=) n.579A>T | |
8 | g.47862379T>C | CA460607482 | PRKDC | c.5913A>G (p.Pro1971=) n.579A>G | |
8 | g.47862379T>G | CA176171868 | PRKDC | c.5913A>C (p.Pro1971=) n.579A>C | dbSNP |
8 | g.47862379T= | CA1781860381 | PRKDC | c.5913A= (p.Pro1971=) n.579A= | |
8 | g.47862380G>A | CA371162123 | PRKDC | c.5912C>T (p.Pro1971Leu) n.578C>T | |
8 | g.47862380G>C | CA371162126 | PRKDC | c.5912C>G (p.Pro1971Arg) n.578C>G | |
8 | g.47862380G>T | CA371162125 | PRKDC | c.5912C>A (p.Pro1971Gln) n.578C>A | |
8 | g.47862381G>A | CA371162128 | PRKDC | c.5911C>T (p.Pro1971Ser) n.577C>T | |
8 | g.47862381G>C | CA371162130 | PRKDC | c.5911C>G (p.Pro1971Ala) n.577C>G | ClinVar |
8 | g.47862381G= | CA1781860386 | PRKDC | c.5911C= (p.Pro1971=) n.577C= | |
8 | g.47862381G>T | CA371162132 | PRKDC | c.5911C>A (p.Pro1971Thr) n.577C>A | ClinVar dbSNP gnomAD v4 |