| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67782840G>A | CA114476 | ZFYVE26 | c.4312C>T (p.Arg1438Ter) n.4449C>T c.*2350+259C>T (n.*2350+259C>T) c.2803C>T (p.Arg935Ter) c.1987C>T (p.Arg663Ter) c.1894C>T (p.Arg632Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782840G>C | CA390170159 | ZFYVE26 | c.4312C>G (p.Arg1438Gly) n.4449C>G c.*2350+259C>G (n.*2350+259C>G) c.2803C>G (p.Arg935Gly) c.1987C>G (p.Arg663Gly) c.1894C>G (p.Arg632Gly) | |
| 14 | g.67782840G= | CA2144027645 | ZFYVE26 | c.4312C= (p.Arg1438=) n.4449C= c.*2350+259C= (n.*2350+259C=) c.2803C= (p.Arg935=) c.1987C= (p.Arg663=) c.1894C= (p.Arg632=) | |
| 14 | g.67782840G>T | CA486970543 | ZFYVE26 | c.4312C>A (p.Arg1438=) n.4449C>A c.*2350+259C>A (n.*2350+259C>A) c.2803C>A (p.Arg935=) c.1987C>A (p.Arg663=) c.1894C>A (p.Arg632=) | ClinVar |
| 14 | g.67782841C>A | CA486970547 | ZFYVE26 | c.4311G>T (p.Gly1437=) n.4448G>T c.*2350+258G>T (n.*2350+258G>T) c.2802G>T (p.Gly934=) c.1986G>T (p.Gly662=) c.1893G>T (p.Gly631=) | |
| 14 | g.67782841C>G | CA486970548 | ZFYVE26 | c.4311G>C (p.Gly1437=) n.4448G>C c.*2350+258G>C (n.*2350+258G>C) c.2802G>C (p.Gly934=) c.1986G>C (p.Gly662=) c.1893G>C (p.Gly631=) | |
| 14 | g.67782841C>T | CA486970546 | ZFYVE26 | c.4311G>A (p.Gly1437=) n.4448G>A c.*2350+258G>A (n.*2350+258G>A) c.2802G>A (p.Gly934=) c.1986G>A (p.Gly662=) c.1893G>A (p.Gly631=) | |
| 14 | g.67782842C>A | CA390170165 | ZFYVE26 | c.4310G>T (p.Gly1437Val) n.4447G>T c.*2350+257G>T (n.*2350+257G>T) c.2801G>T (p.Gly934Val) c.1985G>T (p.Gly662Val) c.1892G>T (p.Gly631Val) | |
| 14 | g.67782842C= | CA2144027646 | ZFYVE26 | c.4310G= (p.Gly1437=) n.4447G= c.*2350+257G= (n.*2350+257G=) c.2801G= (p.Gly934=) c.1985G= (p.Gly662=) c.1892G= (p.Gly631=) | |
| 14 | g.67782842C>G | CA390170163 | ZFYVE26 | c.4310G>C (p.Gly1437Ala) n.4447G>C c.*2350+257G>C (n.*2350+257G>C) c.2801G>C (p.Gly934Ala) c.1985G>C (p.Gly662Ala) c.1892G>C (p.Gly631Ala) | |
| 14 | g.67782842C>T | CA390170161 | ZFYVE26 | c.4310G>A (p.Gly1437Glu) n.4447G>A c.*2350+257G>A (n.*2350+257G>A) c.2801G>A (p.Gly934Glu) c.1985G>A (p.Gly662Glu) c.1892G>A (p.Gly631Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782843C>A | CA390170167 | ZFYVE26 | c.4309G>T (p.Gly1437Trp) n.4446G>T c.*2350+256G>T (n.*2350+256G>T) c.2800G>T (p.Gly934Trp) c.1984G>T (p.Gly662Trp) c.1891G>T (p.Gly631Trp) | |
| 14 | g.67782843C= | CA2144027647 | ZFYVE26 | c.4309G= (p.Gly1437=) n.4446G= c.*2350+256G= (n.*2350+256G=) c.2800G= (p.Gly934=) c.1984G= (p.Gly662=) c.1891G= (p.Gly631=) | |
| 14 | g.67782843C>G | CA390170170 | ZFYVE26 | c.4309G>C (p.Gly1437Arg) n.4446G>C c.*2350+256G>C (n.*2350+256G>C) c.2800G>C (p.Gly934Arg) c.1984G>C (p.Gly662Arg) c.1891G>C (p.Gly631Arg) | |
| 14 | g.67782843C>T | CA7239798 | ZFYVE26 | c.4309G>A (p.Gly1437Arg) n.4446G>A c.*2350+256G>A (n.*2350+256G>A) c.2800G>A (p.Gly934Arg) c.1984G>A (p.Gly662Arg) c.1891G>A (p.Gly631Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.67782844G>A | CA262848518 | ZFYVE26 | c.4308C>T (p.Tyr1436=) n.4445C>T c.*2350+255C>T (n.*2350+255C>T) c.2799C>T (p.Tyr933=) c.1983C>T (p.Tyr661=) c.1890C>T (p.Tyr630=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782844G>C | CA390170175 | ZFYVE26 | c.4308C>G (p.Tyr1436Ter) n.4445C>G c.*2350+255C>G (n.*2350+255C>G) c.2799C>G (p.Tyr933Ter) c.1983C>G (p.Tyr661Ter) c.1890C>G (p.Tyr630Ter) | ClinVar |
| 14 | g.67782844G= | CA2144027648 | ZFYVE26 | c.4308C= (p.Tyr1436=) n.4445C= c.*2350+255C= (n.*2350+255C=) c.2799C= (p.Tyr933=) c.1983C= (p.Tyr661=) c.1890C= (p.Tyr630=) | |
| 14 | g.67782844G>T | CA390170173 | ZFYVE26 | c.4308C>A (p.Tyr1436Ter) n.4445C>A c.*2350+255C>A (n.*2350+255C>A) c.2799C>A (p.Tyr933Ter) c.1983C>A (p.Tyr661Ter) c.1890C>A (p.Tyr630Ter) | |
| 14 | g.67782845T>A | CA390170179 | ZFYVE26 | c.4307A>T (p.Tyr1436Phe) n.4444A>T c.*2350+254A>T (n.*2350+254A>T) c.2798A>T (p.Tyr933Phe) c.1982A>T (p.Tyr661Phe) c.1889A>T (p.Tyr630Phe) | |
| 14 | g.67782845T>C | CA390170182 | ZFYVE26 | c.4307A>G (p.Tyr1436Cys) n.4444A>G c.*2350+254A>G (n.*2350+254A>G) c.2798A>G (p.Tyr933Cys) c.1982A>G (p.Tyr661Cys) c.1889A>G (p.Tyr630Cys) | |
| 14 | g.67782845T>G | CA390170180 | ZFYVE26 | c.4307A>C (p.Tyr1436Ser) n.4444A>C c.*2350+254A>C (n.*2350+254A>C) c.2798A>C (p.Tyr933Ser) c.1982A>C (p.Tyr661Ser) c.1889A>C (p.Tyr630Ser) | |
| 14 | g.67782846A>C | CA390170184 | ZFYVE26 | c.4306T>G (p.Tyr1436Asp) n.4443T>G c.*2350+253T>G (n.*2350+253T>G) c.2797T>G (p.Tyr933Asp) c.1981T>G (p.Tyr661Asp) c.1888T>G (p.Tyr630Asp) | |
| 14 | g.67782846A>G | CA390170186 | ZFYVE26 | c.4306T>C (p.Tyr1436His) n.4443T>C c.*2350+253T>C (n.*2350+253T>C) c.2797T>C (p.Tyr933His) c.1981T>C (p.Tyr661His) c.1888T>C (p.Tyr630His) | |
| 14 | g.67782846A>T | CA390170188 | ZFYVE26 | c.4306T>A (p.Tyr1436Asn) n.4443T>A c.*2350+253T>A (n.*2350+253T>A) c.2797T>A (p.Tyr933Asn) c.1981T>A (p.Tyr661Asn) c.1888T>A (p.Tyr630Asn) | |
| 14 | g.67782847C>A | CA486970553 | ZFYVE26 | c.4305G>T (p.Val1435=) n.4442G>T c.*2350+252G>T (n.*2350+252G>T) c.2796G>T (p.Val932=) c.1980G>T (p.Val660=) c.1887G>T (p.Val629=) | |
| 14 | g.67782847C= | CA2144027649 | ZFYVE26 | c.4305G= (p.Val1435=) n.4442G= c.*2350+252G= (n.*2350+252G=) c.2796G= (p.Val932=) c.1980G= (p.Val660=) c.1887G= (p.Val629=) | |
| 14 | g.67782847C>G | CA7239800 | ZFYVE26 | c.4305G>C (p.Val1435=) n.4442G>C c.*2350+252G>C (n.*2350+252G>C) c.2796G>C (p.Val932=) c.1980G>C (p.Val660=) c.1887G>C (p.Val629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782847C>T | CA7239799 | ZFYVE26 | c.4305G>A (p.Val1435=) n.4442G>A c.*2350+252G>A (n.*2350+252G>A) c.2796G>A (p.Val932=) c.1980G>A (p.Val660=) c.1887G>A (p.Val629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782848A= | CA2144027650 | ZFYVE26 | c.4304T= (p.Val1435=) n.4441T= c.*2350+251T= (n.*2350+251T=) c.2795T= (p.Val932=) c.1979T= (p.Val660=) c.1886T= (p.Val629=) | |
| 14 | g.67782848A>C | CA390170191 | ZFYVE26 | c.4304T>G (p.Val1435Gly) n.4441T>G c.*2350+251T>G (n.*2350+251T>G) c.2795T>G (p.Val932Gly) c.1979T>G (p.Val660Gly) c.1886T>G (p.Val629Gly) | ClinVar dbSNP |
| 14 | g.67782848A>G | CA390170193 | ZFYVE26 | c.4304T>C (p.Val1435Ala) n.4441T>C c.*2350+251T>C (n.*2350+251T>C) c.2795T>C (p.Val932Ala) c.1979T>C (p.Val660Ala) c.1886T>C (p.Val629Ala) | |
| 14 | g.67782848A>T | CA390170194 | ZFYVE26 | c.4304T>A (p.Val1435Glu) n.4441T>A c.*2350+251T>A (n.*2350+251T>A) c.2795T>A (p.Val932Glu) c.1979T>A (p.Val660Glu) c.1886T>A (p.Val629Glu) | ClinVar |
| 14 | g.67782849C>A | CA390170197 | ZFYVE26 | c.4303G>T (p.Val1435Leu) n.4440G>T c.*2350+250G>T (n.*2350+250G>T) c.2794G>T (p.Val932Leu) c.1978G>T (p.Val660Leu) c.1885G>T (p.Val629Leu) | |
| 14 | g.67782849C= | CA2144027651 | ZFYVE26 | c.4303G= (p.Val1435=) n.4440G= c.*2350+250G= (n.*2350+250G=) c.2794G= (p.Val932=) c.1978G= (p.Val660=) c.1885G= (p.Val629=) | |
| 14 | g.67782849C>G | CA390170199 | ZFYVE26 | c.4303G>C (p.Val1435Leu) n.4440G>C c.*2350+250G>C (n.*2350+250G>C) c.2794G>C (p.Val932Leu) c.1978G>C (p.Val660Leu) c.1885G>C (p.Val629Leu) | |
| 14 | g.67782849C>T | CA262848523 | ZFYVE26 | c.4303G>A (p.Val1435Met) n.4440G>A c.*2350+250G>A (n.*2350+250G>A) c.2794G>A (p.Val932Met) c.1978G>A (p.Val660Met) c.1885G>A (p.Val629Met) | dbSNP |
| 14 | g.67782850T>A | CA390170202 | ZFYVE26 | c.4302A>T (p.Glu1434Asp) n.4439A>T c.*2350+249A>T (n.*2350+249A>T) c.2793A>T (p.Glu931Asp) c.1977A>T (p.Glu659Asp) c.1884A>T (p.Glu628Asp) | ClinVar dbSNP |
| 14 | g.67782850T>C | CA7239801 | ZFYVE26 | c.4302A>G (p.Glu1434=) n.4439A>G c.*2350+249A>G (n.*2350+249A>G) c.2793A>G (p.Glu931=) c.1977A>G (p.Glu659=) c.1884A>G (p.Glu628=) | dbSNP ExAC gnomAD v4 |
| 14 | g.67782850T>G | CA390170204 | ZFYVE26 | c.4302A>C (p.Glu1434Asp) n.4439A>C c.*2350+249A>C (n.*2350+249A>C) c.2793A>C (p.Glu931Asp) c.1977A>C (p.Glu659Asp) c.1884A>C (p.Glu628Asp) | |
| 14 | g.67782850T= | CA2144027652 | ZFYVE26 | c.4302A= (p.Glu1434=) n.4439A= c.*2350+249A= (n.*2350+249A=) c.2793A= (p.Glu931=) c.1977A= (p.Glu659=) c.1884A= (p.Glu628=) | |
| 14 | g.67782851T>A | CA390170206 | ZFYVE26 | c.4301A>T (p.Glu1434Val) n.4438A>T c.*2350+248A>T (n.*2350+248A>T) c.2792A>T (p.Glu931Val) c.1976A>T (p.Glu659Val) c.1883A>T (p.Glu628Val) | |
| 14 | g.67782851T>C | CA390170208 | ZFYVE26 | c.4301A>G (p.Glu1434Gly) n.4438A>G c.*2350+248A>G (n.*2350+248A>G) c.2792A>G (p.Glu931Gly) c.1976A>G (p.Glu659Gly) c.1883A>G (p.Glu628Gly) | |
| 14 | g.67782851T>G | CA7239802 | ZFYVE26 | c.4301A>C (p.Glu1434Ala) n.4438A>C c.*2350+248A>C (n.*2350+248A>C) c.2792A>C (p.Glu931Ala) c.1976A>C (p.Glu659Ala) c.1883A>C (p.Glu628Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782851T= | CA2144027653 | ZFYVE26 | c.4301A= (p.Glu1434=) n.4438A= c.*2350+248A= (n.*2350+248A=) c.2792A= (p.Glu931=) c.1976A= (p.Glu659=) c.1883A= (p.Glu628=) | |
| 14 | g.67782852C>A | CA390170211 | ZFYVE26 | c.4300G>T (p.Glu1434Ter) n.4437G>T c.*2350+247G>T (n.*2350+247G>T) c.2791G>T (p.Glu931Ter) c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) | |
| 14 | g.67782852C>G | CA390170213 | ZFYVE26 | c.4300G>C (p.Glu1434Gln) n.4437G>C c.*2350+247G>C (n.*2350+247G>C) c.2791G>C (p.Glu931Gln) c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) | |
| 14 | g.67782852C>T | CA390170215 | ZFYVE26 | c.4300G>A (p.Glu1434Lys) n.4437G>A c.*2350+247G>A (n.*2350+247G>A) c.2791G>A (p.Glu931Lys) c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) | |
| 14 | g.67782853A>C | CA486970555 | ZFYVE26 | c.4299T>G (p.Thr1433=) n.4436T>G c.*2350+246T>G (n.*2350+246T>G) c.2790T>G (p.Thr930=) c.1974T>G (p.Thr658=) c.1881T>G (p.Thr627=) | |
| 14 | g.67782853A>G | CA486970557 | ZFYVE26 | c.4299T>C (p.Thr1433=) n.4436T>C c.*2350+246T>C (n.*2350+246T>C) c.2790T>C (p.Thr930=) c.1974T>C (p.Thr658=) c.1881T>C (p.Thr627=) |