UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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=) | |
| 14 | g.67782853A>T | CA486970559 | ZFYVE26 | c.4299T>A (p.Thr1433=) n.4436T>A c.*2350+246T>A (n.*2350+246T>A) c.2790T>A (p.Thr930=) c.1974T>A (p.Thr658=) c.1881T>A (p.Thr627=) | |
| 14 | g.67782854G>A | CA390170216 | ZFYVE26 | c.4298C>T (p.Thr1433Ile) n.4435C>T c.*2350+245C>T (n.*2350+245C>T) c.2789C>T (p.Thr930Ile) c.1973C>T (p.Thr658Ile) c.1880C>T (p.Thr627Ile) | |
| 14 | g.67782854G>C | CA390170218 | ZFYVE26 | c.4298C>G (p.Thr1433Ser) n.4435C>G c.*2350+245C>G (n.*2350+245C>G) c.2789C>G (p.Thr930Ser) c.1973C>G (p.Thr658Ser) c.1880C>G (p.Thr627Ser) | |
| 14 | g.67782854G>T | CA390170220 | ZFYVE26 | c.4298C>A (p.Thr1433Asn) n.4435C>A c.*2350+245C>A (n.*2350+245C>A) c.2789C>A (p.Thr930Asn) c.1973C>A (p.Thr658Asn) c.1880C>A (p.Thr627Asn) | |
| 14 | g.67782855T>A | CA390170224 | ZFYVE26 | c.4297A>T (p.Thr1433Ser) n.4434A>T c.*2350+244A>T (n.*2350+244A>T) c.2788A>T (p.Thr930Ser) c.1972A>T (p.Thr658Ser) c.1879A>T (p.Thr627Ser) | |
| 14 | g.67782855T>C | CA7239803 | ZFYVE26 | c.4297A>G (p.Thr1433Ala) n.4434A>G c.*2350+244A>G (n.*2350+244A>G) c.2788A>G (p.Thr930Ala) c.1972A>G (p.Thr658Ala) c.1879A>G (p.Thr627Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782855T>G | CA390170222 | ZFYVE26 | c.4297A>C (p.Thr1433Pro) n.4434A>C c.*2350+244A>C (n.*2350+244A>C) c.2788A>C (p.Thr930Pro) c.1972A>C (p.Thr658Pro) c.1879A>C (p.Thr627Pro) | |
| 14 | g.67782855T= | CA2144027654 | ZFYVE26 | c.4297A= (p.Thr1433=) n.4434A= c.*2350+244A= (n.*2350+244A=) c.2788A= (p.Thr930=) c.1972A= (p.Thr658=) c.1879A= (p.Thr627=) | |
| 14 | g.67782856G>A | CA486970563 | ZFYVE26 | c.4296C>T (p.Leu1432=) n.4433C>T c.*2350+243C>T (n.*2350+243C>T) c.2787C>T (p.Leu929=) c.1971C>T (p.Leu657=) c.1878C>T (p.Leu626=) | gnomAD v4 |
| 14 | g.67782856G>C | CA486970564 | ZFYVE26 | c.4296C>G (p.Leu1432=) n.4433C>G c.*2350+243C>G (n.*2350+243C>G) c.2787C>G (p.Leu929=) c.1971C>G (p.Leu657=) c.1878C>G (p.Leu626=) | |
| 14 | g.67782856G>T | CA486970565 | ZFYVE26 | c.4296C>A (p.Leu1432=) n.4433C>A c.*2350+243C>A (n.*2350+243C>A) c.2787C>A (p.Leu929=) c.1971C>A (p.Leu657=) c.1878C>A (p.Leu626=) | |
| 14 | g.67782857A>C | CA390170226 | ZFYVE26 | c.4295T>G (p.Leu1432Arg) n.4432T>G c.*2350+242T>G (n.*2350+242T>G) c.2786T>G (p.Leu929Arg) c.1970T>G (p.Leu657Arg) c.1877T>G (p.Leu626Arg) | |
| 14 | g.67782857A>G | CA390170228 | ZFYVE26 | c.4295T>C (p.Leu1432Pro) n.4432T>C c.*2350+242T>C (n.*2350+242T>C) c.2786T>C (p.Leu929Pro) c.1970T>C (p.Leu657Pro) c.1877T>C (p.Leu626Pro) | |
| 14 | g.67782857A>T | CA390170229 | ZFYVE26 | c.4295T>A (p.Leu1432His) n.4432T>A c.*2350+242T>A (n.*2350+242T>A) c.2786T>A (p.Leu929His) c.1970T>A (p.Leu657His) c.1877T>A (p.Leu626His) | |
| 14 | g.67782858G>A | CA390170231 | ZFYVE26 | c.4294C>T (p.Leu1432Phe) n.4431C>T c.*2350+241C>T (n.*2350+241C>T) c.2785C>T (p.Leu929Phe) c.1969C>T (p.Leu657Phe) c.1876C>T (p.Leu626Phe) | dbSNP gnomAD v4 |
| 14 | g.67782858G>C | CA390170233 | ZFYVE26 | c.4294C>G (p.Leu1432Val) n.4431C>G c.*2350+241C>G (n.*2350+241C>G) c.2785C>G (p.Leu929Val) c.1969C>G (p.Leu657Val) c.1876C>G (p.Leu626Val) | |
| 14 | g.67782858G= | CA2144027655 | ZFYVE26 | c.4294C= (p.Leu1432=) n.4431C= c.*2350+241C= (n.*2350+241C=) c.2785C= (p.Leu929=) c.1969C= (p.Leu657=) c.1876C= (p.Leu626=) | |
| 14 | g.67782858G>T | CA390170235 | ZFYVE26 | c.4294C>A (p.Leu1432Ile) n.4431C>A c.*2350+241C>A (n.*2350+241C>A) c.2785C>A (p.Leu929Ile) c.1969C>A (p.Leu657Ile) c.1876C>A (p.Leu626Ile) | |
| 14 | g.67782859C>A | CA390170237 | ZFYVE26 | c.4293G>T (p.Gln1431His) n.4430G>T c.*2350+240G>T (n.*2350+240G>T) c.2784G>T (p.Gln928His) c.1968G>T (p.Gln656His) c.1875G>T (p.Gln625His) | gnomAD v4 |
| 14 | g.67782859C= | CA2144027656 | ZFYVE26 | c.4293G= (p.Gln1431=) n.4430G= c.*2350+240G= (n.*2350+240G=) c.2784G= (p.Gln928=) c.1968G= (p.Gln656=) c.1875G= (p.Gln625=) | |
| 14 | g.67782859C>G | CA7239804 | ZFYVE26 | c.4293G>C (p.Gln1431His) n.4430G>C c.*2350+240G>C (n.*2350+240G>C) c.2784G>C (p.Gln928His) c.1968G>C (p.Gln656His) c.1875G>C (p.Gln625His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782859C>T | CA486970570 | ZFYVE26 | c.4293G>A (p.Gln1431=) n.4430G>A c.*2350+240G>A (n.*2350+240G>A) c.2784G>A (p.Gln928=) c.1968G>A (p.Gln656=) c.1875G>A (p.Gln625=) | COSMIC |
| 14 | g.67782860T>A | CA390170240 | ZFYVE26 | c.4292A>T (p.Gln1431Leu) n.4429A>T c.*2350+239A>T (n.*2350+239A>T) c.2783A>T (p.Gln928Leu) c.1967A>T (p.Gln656Leu) c.1874A>T (p.Gln625Leu) | |
| 14 | g.67782860T>C | CA390170241 | ZFYVE26 | c.4292A>G (p.Gln1431Arg) n.4429A>G c.*2350+239A>G (n.*2350+239A>G) c.2783A>G (p.Gln928Arg) c.1967A>G (p.Gln656Arg) c.1874A>G (p.Gln625Arg) | |
| 14 | g.67782860T>G | CA390170243 | ZFYVE26 | c.4292A>C (p.Gln1431Pro) n.4429A>C c.*2350+239A>C (n.*2350+239A>C) c.2783A>C (p.Gln928Pro) c.1967A>C (p.Gln656Pro) c.1874A>C (p.Gln625Pro) | |
| 14 | g.67782861G>A | CA390170249 | ZFYVE26 | c.4291C>T (p.Gln1431Ter) n.4428C>T c.*2350+238C>T (n.*2350+238C>T) c.2782C>T (p.Gln928Ter) c.1966C>T (p.Gln656Ter) c.1873C>T (p.Gln625Ter) | ClinVar dbSNP |
| 14 | g.67782861G>C | CA390170247 | ZFYVE26 | c.4291C>G (p.Gln1431Glu) n.4428C>G c.*2350+238C>G (n.*2350+238C>G) c.2782C>G (p.Gln928Glu) c.1966C>G (p.Gln656Glu) c.1873C>G (p.Gln625Glu) | |
| 14 | g.67782861G>T | CA390170245 | ZFYVE26 | c.4291C>A (p.Gln1431Lys) n.4428C>A c.*2350+238C>A (n.*2350+238C>A) c.2782C>A (p.Gln928Lys) c.1966C>A (p.Gln656Lys) c.1873C>A (p.Gln625Lys) | |
| 14 | g.67782862A>C | CA486970576 | ZFYVE26 | c.4290T>G (p.Leu1430=) n.4427T>G c.*2350+237T>G (n.*2350+237T>G) c.2781T>G (p.Leu927=) c.1965T>G (p.Leu655=) c.1872T>G (p.Leu624=) | |
| 14 | g.67782862A>G | CA486970577 | ZFYVE26 | c.4290T>C (p.Leu1430=) n.4427T>C c.*2350+237T>C (n.*2350+237T>C) c.2781T>C (p.Leu927=) c.1965T>C (p.Leu655=) c.1872T>C (p.Leu624=) | |
| 14 | g.67782862A>T | CA486970575 | ZFYVE26 | c.4290T>A (p.Leu1430=) n.4427T>A c.*2350+237T>A (n.*2350+237T>A) c.2781T>A (p.Leu927=) c.1965T>A (p.Leu655=) c.1872T>A (p.Leu624=) | |
| 14 | g.67782863A>C | CA390170251 | ZFYVE26 | c.4289T>G (p.Leu1430Arg) n.4426T>G c.*2350+236T>G (n.*2350+236T>G) c.2780T>G (p.Leu927Arg) c.1964T>G (p.Leu655Arg) c.1871T>G (p.Leu624Arg) | |
| 14 | g.67782863A>G | CA390170252 | ZFYVE26 | c.4289T>C (p.Leu1430Pro) n.4426T>C c.*2350+236T>C (n.*2350+236T>C) c.2780T>C (p.Leu927Pro) c.1964T>C (p.Leu655Pro) c.1871T>C (p.Leu624Pro) | |
| 14 | g.67782863A>T | CA390170254 | ZFYVE26 | c.4289T>A (p.Leu1430His) n.4426T>A c.*2350+236T>A (n.*2350+236T>A) c.2780T>A (p.Leu927His) c.1964T>A (p.Leu655His) c.1871T>A (p.Leu624His) | |
| 14 | g.67782864G>A | CA390170256 | ZFYVE26 | c.4288C>T (p.Leu1430Phe) n.4425C>T c.*2350+235C>T (n.*2350+235C>T) c.2779C>T (p.Leu927Phe) c.1963C>T (p.Leu655Phe) c.1870C>T (p.Leu624Phe) | ClinVar |
| 14 | g.67782864G>C | CA390170257 | ZFYVE26 | c.4288C>G (p.Leu1430Val) n.4425C>G c.*2350+235C>G (n.*2350+235C>G) c.2779C>G (p.Leu927Val) c.1963C>G (p.Leu655Val) c.1870C>G (p.Leu624Val) | dbSNP gnomAD v2 |
| 14 | g.67782864G= | CA2144027657 | ZFYVE26 | c.4288C= (p.Leu1430=) n.4425C= c.*2350+235C= (n.*2350+235C=) c.2779C= (p.Leu927=) c.1963C= (p.Leu655=) c.1870C= (p.Leu624=) | |
| 14 | g.67782864G>T | CA390170259 | ZFYVE26 | c.4288C>A (p.Leu1430Ile) n.4425C>A c.*2350+235C>A (n.*2350+235C>A) c.2779C>A (p.Leu927Ile) c.1963C>A (p.Leu655Ile) c.1870C>A (p.Leu624Ile) | |
| 14 | g.67782865G>A | CA486970581 | ZFYVE26 | c.4287C>T (p.Ala1429=) n.4424C>T c.*2350+234C>T (n.*2350+234C>T) c.2778C>T (p.Ala926=) c.1962C>T (p.Ala654=) c.1869C>T (p.Ala623=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782865G>C | CA486970582 | ZFYVE26 | c.4287C>G (p.Ala1429=) n.4424C>G c.*2350+234C>G (n.*2350+234C>G) c.2778C>G (p.Ala926=) c.1962C>G (p.Ala654=) c.1869C>G (p.Ala623=) | |
| 14 | g.67782865G>T | CA486970584 | ZFYVE26 | c.4287C>A (p.Ala1429=) n.4424C>A c.*2350+234C>A (n.*2350+234C>A) c.2778C>A (p.Ala926=) c.1962C>A (p.Ala654=) c.1869C>A (p.Ala623=) | |
| 14 | g.67782866G>A | CA390170262 | ZFYVE26 | c.4286C>T (p.Ala1429Val) n.4423C>T c.*2350+233C>T (n.*2350+233C>T) c.2777C>T (p.Ala926Val) c.1961C>T (p.Ala654Val) c.1868C>T (p.Ala623Val) | |
| 14 | g.67782866G>C | CA390170263 | ZFYVE26 | c.4286C>G (p.Ala1429Gly) n.4423C>G c.*2350+233C>G (n.*2350+233C>G) c.2777C>G (p.Ala926Gly) c.1961C>G (p.Ala654Gly) c.1868C>G (p.Ala623Gly) | |
| 14 | g.67782866G>T | CA390170265 | ZFYVE26 | c.4286C>A (p.Ala1429Asp) n.4423C>A c.*2350+233C>A (n.*2350+233C>A) c.2777C>A (p.Ala926Asp) c.1961C>A (p.Ala654Asp) c.1868C>A (p.Ala623Asp) | |
| 14 | g.67782867C>A | CA390170268 | ZFYVE26 | c.4285G>T (p.Ala1429Ser) n.4422G>T c.*2350+232G>T (n.*2350+232G>T) c.2776G>T (p.Ala926Ser) c.1960G>T (p.Ala654Ser) c.1867G>T (p.Ala623Ser) | |
| 14 | g.67782867C= | CA2144027658 | ZFYVE26 | c.4285G= (p.Ala1429=) n.4422G= c.*2350+232G= (n.*2350+232G=) c.2776G= (p.Ala926=) c.1960G= (p.Ala654=) c.1867G= (p.Ala623=) | |
| 14 | g.67782867C>G | CA390170269 | ZFYVE26 | c.4285G>C (p.Ala1429Pro) n.4422G>C c.*2350+232G>C (n.*2350+232G>C) c.2776G>C (p.Ala926Pro) c.1960G>C (p.Ala654Pro) c.1867G>C (p.Ala623Pro) | |
| 14 | g.67782867C>T | CA7239805 | ZFYVE26 | c.4285G>A (p.Ala1429Thr) n.4422G>A c.*2350+232G>A (n.*2350+232G>A) c.2776G>A (p.Ala926Thr) c.1960G>A (p.Ala654Thr) c.1867G>A (p.Ala623Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782868C>A | CA7239806 | ZFYVE26 | c.4284G>T (p.Arg1428=) n.4421G>T c.*2350+231G>T (n.*2350+231G>T) c.2775G>T (p.Arg925=) c.1959G>T (p.Arg653=) c.1866G>T (p.Arg622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782868C= | CA2144027659 | ZFYVE26 | c.4284G= (p.Arg1428=) n.4421G= c.*2350+231G= (n.*2350+231G=) c.2775G= (p.Arg925=) c.1959G= (p.Arg653=) c.1866G= (p.Arg622=) | |
| 14 | g.67782868C>G | CA486970586 | ZFYVE26 | c.4284G>C (p.Arg1428=) n.4421G>C c.*2350+231G>C (n.*2350+231G>C) c.2775G>C (p.Arg925=) c.1959G>C (p.Arg653=) c.1866G>C (p.Arg622=) | |
| 14 | g.67782868C>T | CA486970587 | ZFYVE26 | c.4284G>A (p.Arg1428=) n.4421G>A c.*2350+231G>A (n.*2350+231G>A) c.2775G>A (p.Arg925=) c.1959G>A (p.Arg653=) c.1866G>A (p.Arg622=) | |
| 14 | g.67782869C>A | CA390170275 | ZFYVE26 | c.4283G>T (p.Arg1428Leu) n.4420G>T c.*2350+230G>T (n.*2350+230G>T) c.2774G>T (p.Arg925Leu) c.1958G>T (p.Arg653Leu) c.1865G>T (p.Arg622Leu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782869C= | CA2144027660 | ZFYVE26 | c.4283G= (p.Arg1428=) n.4420G= c.*2350+230G= (n.*2350+230G=) c.2774G= (p.Arg925=) c.1958G= (p.Arg653=) c.1865G= (p.Arg622=) | |
| 14 | g.67782869C>G | CA390170277 | ZFYVE26 | c.4283G>C (p.Arg1428Pro) n.4420G>C c.*2350+230G>C (n.*2350+230G>C) c.2774G>C (p.Arg925Pro) c.1958G>C (p.Arg653Pro) c.1865G>C (p.Arg622Pro) | |
| 14 | g.67782869C>T | CA7239807 | ZFYVE26 | c.4283G>A (p.Arg1428Gln) n.4420G>A c.*2350+230G>A (n.*2350+230G>A) c.2774G>A (p.Arg925Gln) c.1958G>A (p.Arg653Gln) c.1865G>A (p.Arg622Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782869_67782870delinsA | CA2580088643 | ZFYVE26 | c.4282_4283delinsT (p.Arg1428TrpfsTer16) n.4419_4420delinsT c.*2350+229_*2350+230delinsT (n.*2350+229_*2350+230delinsT) c.2773_2774delinsT (p.Arg925TrpfsTer16) c.1957_1958delinsT (p.Arg653TrpfsTer16) c.1864_1865delinsT (p.Arg622TrpfsTer16) | ClinVar |
| 14 | g.67782870G>A | CA7239808 | ZFYVE26 | c.4282C>T (p.Arg1428Trp) n.4419C>T c.*2350+229C>T (n.*2350+229C>T) c.2773C>T (p.Arg925Trp) c.1957C>T (p.Arg653Trp) c.1864C>T (p.Arg622Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.67782870G>C | CA390170279 | ZFYVE26 | c.4282C>G (p.Arg1428Gly) n.4419C>G c.*2350+229C>G (n.*2350+229C>G) c.2773C>G (p.Arg925Gly) c.1957C>G (p.Arg653Gly) c.1864C>G (p.Arg622Gly) | |
| 14 | g.67782870G= | CA2144027661 | ZFYVE26 | c.4282C= (p.Arg1428=) n.4419C= c.*2350+229C= (n.*2350+229C=) c.2773C= (p.Arg925=) c.1957C= (p.Arg653=) c.1864C= (p.Arg622=) | |
| 14 | g.67782870G>T | CA486970588 | ZFYVE26 | c.4282C>A (p.Arg1428=) n.4419C>A c.*2350+229C>A (n.*2350+229C>A) c.2773C>A (p.Arg925=) c.1957C>A (p.Arg653=) c.1864C>A (p.Arg622=) | COSMIC |
| 14 | g.67782871G>A | CA486970589 | ZFYVE26 | c.4281C>T (p.Ser1427=) n.4418C>T c.*2350+228C>T (n.*2350+228C>T) c.2772C>T (p.Ser924=) c.1956C>T (p.Ser652=) c.1863C>T (p.Ser621=) | |
| 14 | g.67782871G>C | CA486970590 | ZFYVE26 | c.4281C>G (p.Ser1427=) n.4418C>G c.*2350+228C>G (n.*2350+228C>G) c.2772C>G (p.Ser924=) c.1956C>G (p.Ser652=) c.1863C>G (p.Ser621=) | |
| 14 | g.67782871G= | CA2144027662 | ZFYVE26 | c.4281C= (p.Ser1427=) n.4418C= c.*2350+228C= (n.*2350+228C=) c.2772C= (p.Ser924=) c.1956C= (p.Ser652=) c.1863C= (p.Ser621=) | |
| 14 | g.67782871G>T | CA486970591 | ZFYVE26 | c.4281C>A (p.Ser1427=) n.4418C>A c.*2350+228C>A (n.*2350+228C>A) c.2772C>A (p.Ser924=) c.1956C>A (p.Ser652=) c.1863C>A (p.Ser621=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782872G>A | CA7239809 | ZFYVE26 | c.4280C>T (p.Ser1427Phe) n.4417C>T c.*2350+227C>T (n.*2350+227C>T) c.2771C>T (p.Ser924Phe) c.1955C>T (p.Ser652Phe) c.1862C>T (p.Ser621Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782872G>C | CA390170283 | ZFYVE26 | c.4280C>G (p.Ser1427Cys) n.4417C>G c.*2350+227C>G (n.*2350+227C>G) c.2771C>G (p.Ser924Cys) c.1955C>G (p.Ser652Cys) c.1862C>G (p.Ser621Cys) | |
| 14 | g.67782872G= | CA2144027663 | ZFYVE26 | c.4280C= (p.Ser1427=) n.4417C= c.*2350+227C= (n.*2350+227C=) c.2771C= (p.Ser924=) c.1955C= (p.Ser652=) c.1862C= (p.Ser621=) | |
| 14 | g.67782872G>T | CA390170285 | ZFYVE26 | c.4280C>A (p.Ser1427Tyr) n.4417C>A c.*2350+227C>A (n.*2350+227C>A) c.2771C>A (p.Ser924Tyr) c.1955C>A (p.Ser652Tyr) c.1862C>A (p.Ser621Tyr) | |
| 14 | g.67782873A= | CA2144027664 | ZFYVE26 | c.4279T= (p.Ser1427=) n.4416T= c.*2350+226T= (n.*2350+226T=) c.2770T= (p.Ser924=) c.1954T= (p.Ser652=) c.1861T= (p.Ser621=) | |
| 14 | g.67782873A>C | CA390170286 | ZFYVE26 | c.4279T>G (p.Ser1427Ala) n.4416T>G c.*2350+226T>G (n.*2350+226T>G) c.2770T>G (p.Ser924Ala) c.1954T>G (p.Ser652Ala) c.1861T>G (p.Ser621Ala) | dbSNP |
| 14 | g.67782873A>G | CA390170287 | ZFYVE26 | c.4279T>C (p.Ser1427Pro) n.4416T>C c.*2350+226T>C (n.*2350+226T>C) c.2770T>C (p.Ser924Pro) c.1954T>C (p.Ser652Pro) c.1861T>C (p.Ser621Pro) | |
| 14 | g.67782873A>T | CA390170289 | ZFYVE26 | c.4279T>A (p.Ser1427Thr) n.4416T>A c.*2350+226T>A (n.*2350+226T>A) c.2770T>A (p.Ser924Thr) c.1954T>A (p.Ser652Thr) c.1861T>A (p.Ser621Thr) | |
| 14 | g.67782874C>A | CA390170292 | ZFYVE26 | c.4278G>T (p.Trp1426Cys) n.4415G>T c.*2350+225G>T (n.*2350+225G>T) c.2769G>T (p.Trp923Cys) c.1953G>T (p.Trp651Cys) c.1860G>T (p.Trp620Cys) | |
| 14 | g.67782874C>G | CA390170293 | ZFYVE26 | c.4278G>C (p.Trp1426Cys) n.4415G>C c.*2350+225G>C (n.*2350+225G>C) c.2769G>C (p.Trp923Cys) c.1953G>C (p.Trp651Cys) c.1860G>C (p.Trp620Cys) | |
| 14 | g.67782874C>T | CA390170294 | ZFYVE26 | c.4278G>A (p.Trp1426Ter) n.4415G>A c.*2350+225G>A (n.*2350+225G>A) c.2769G>A (p.Trp923Ter) c.1953G>A (p.Trp651Ter) c.1860G>A (p.Trp620Ter) | |
| 14 | g.67782875C>A | CA7239810 | ZFYVE26 | c.4277G>T (p.Trp1426Leu) n.4414G>T c.*2350+224G>T (n.*2350+224G>T) c.2768G>T (p.Trp923Leu) c.1952G>T (p.Trp651Leu) c.1859G>T (p.Trp620Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782875C= | CA2144027665 | ZFYVE26 | c.4277G= (p.Trp1426=) n.4414G= c.*2350+224G= (n.*2350+224G=) c.2768G= (p.Trp923=) c.1952G= (p.Trp651=) c.1859G= (p.Trp620=) | |
| 14 | g.67782875C>G | CA390170297 | ZFYVE26 | c.4277G>C (p.Trp1426Ser) n.4414G>C c.*2350+224G>C (n.*2350+224G>C) c.2768G>C (p.Trp923Ser) c.1952G>C (p.Trp651Ser) c.1859G>C (p.Trp620Ser) | |
| 14 | g.67782875C>T | CA390170299 | ZFYVE26 | c.4277G>A (p.Trp1426Ter) n.4414G>A c.*2350+224G>A (n.*2350+224G>A) c.2768G>A (p.Trp923Ter) c.1952G>A (p.Trp651Ter) c.1859G>A (p.Trp620Ter) | dbSNP |
| 14 | g.67782876A>C | CA390170302 | ZFYVE26 | c.4276T>G (p.Trp1426Gly) n.4413T>G c.*2350+223T>G (n.*2350+223T>G) c.2767T>G (p.Trp923Gly) c.1951T>G (p.Trp651Gly) c.1858T>G (p.Trp620Gly) | |
| 14 | g.67782876A>G | CA390170305 | ZFYVE26 | c.4276T>C (p.Trp1426Arg) n.4413T>C c.*2350+223T>C (n.*2350+223T>C) c.2767T>C (p.Trp923Arg) c.1951T>C (p.Trp651Arg) c.1858T>C (p.Trp620Arg) | |
| 14 | g.67782876A>T | CA390170303 | ZFYVE26 | c.4276T>A (p.Trp1426Arg) n.4413T>A c.*2350+223T>A (n.*2350+223T>A) c.2767T>A (p.Trp923Arg) c.1951T>A (p.Trp651Arg) c.1858T>A (p.Trp620Arg) | COSMIC |
| 14 | g.67782877A>C | CA390170307 | ZFYVE26 | c.4275T>G (p.Asp1425Glu) n.4412T>G c.*2350+222T>G (n.*2350+222T>G) c.2766T>G (p.Asp922Glu) c.1950T>G (p.Asp650Glu) c.1857T>G (p.Asp619Glu) | |
| 14 | g.67782877A>G | CA486970595 | ZFYVE26 | c.4275T>C (p.Asp1425=) n.4412T>C c.*2350+222T>C (n.*2350+222T>C) c.2766T>C (p.Asp922=) c.1950T>C (p.Asp650=) c.1857T>C (p.Asp619=) | gnomAD v4 |
| 14 | g.67782877A>T | CA390170309 | ZFYVE26 | c.4275T>A (p.Asp1425Glu) n.4412T>A c.*2350+222T>A (n.*2350+222T>A) c.2766T>A (p.Asp922Glu) c.1950T>A (p.Asp650Glu) c.1857T>A (p.Asp619Glu) | COSMIC |
| 14 | g.67782878T>A | CA390170311 | ZFYVE26 | c.4274A>T (p.Asp1425Val) n.4411A>T c.*2350+221A>T (n.*2350+221A>T) c.2765A>T (p.Asp922Val) c.1949A>T (p.Asp650Val) c.1856A>T (p.Asp619Val) | |
| 14 | g.67782878T>C | CA390170313 | ZFYVE26 | c.4274A>G (p.Asp1425Gly) n.4411A>G c.*2350+221A>G (n.*2350+221A>G) c.2765A>G (p.Asp922Gly) c.1949A>G (p.Asp650Gly) c.1856A>G (p.Asp619Gly) | gnomAD v4 |
| 14 | g.67782878T>G | CA390170314 | ZFYVE26 | c.4274A>C (p.Asp1425Ala) n.4411A>C c.*2350+221A>C (n.*2350+221A>C) c.2765A>C (p.Asp922Ala) c.1949A>C (p.Asp650Ala) c.1856A>C (p.Asp619Ala) | |
| 14 | g.67782879C>A | CA390170317 | ZFYVE26 | c.4273G>T (p.Asp1425Tyr) n.4410G>T c.*2350+220G>T (n.*2350+220G>T) c.2764G>T (p.Asp922Tyr) c.1948G>T (p.Asp650Tyr) c.1855G>T (p.Asp619Tyr) | |
| 14 | g.67782879C>G | CA390170318 | ZFYVE26 | c.4273G>C (p.Asp1425His) n.4410G>C c.*2350+220G>C (n.*2350+220G>C) c.2764G>C (p.Asp922His) c.1948G>C (p.Asp650His) c.1855G>C (p.Asp619His) | |
| 14 | g.67782879C>T | CA390170320 | ZFYVE26 | c.4273G>A (p.Asp1425Asn) n.4410G>A c.*2350+220G>A (n.*2350+220G>A) c.2764G>A (p.Asp922Asn) c.1948G>A (p.Asp650Asn) c.1855G>A (p.Asp619Asn) | gnomAD v4 |
| 14 | g.67782880T>A | CA390170322 | ZFYVE26 | c.4272A>T (p.Arg1424Ser) n.4409A>T c.*2350+219A>T (n.*2350+219A>T) c.2763A>T (p.Arg921Ser) c.1947A>T (p.Arg649Ser) c.1854A>T (p.Arg618Ser) | |
| 14 | g.67782880T>C | CA486970598 | ZFYVE26 | c.4272A>G (p.Arg1424=) n.4409A>G c.*2350+219A>G (n.*2350+219A>G) c.2763A>G (p.Arg921=) c.1947A>G (p.Arg649=) c.1854A>G (p.Arg618=) | |
| 14 | g.67782880T>G | CA390170325 | ZFYVE26 | c.4272A>C (p.Arg1424Ser) n.4409A>C c.*2350+219A>C (n.*2350+219A>C) c.2763A>C (p.Arg921Ser) c.1947A>C (p.Arg649Ser) c.1854A>C (p.Arg618Ser) | |
| 14 | g.67782881C>A | CA390170328 | ZFYVE26 | c.4271G>T (p.Arg1424Ile) n.4408G>T c.*2350+218G>T (n.*2350+218G>T) c.2762G>T (p.Arg921Ile) c.1946G>T (p.Arg649Ile) c.1853G>T (p.Arg618Ile) | |
| 14 | g.67782881C>G | CA390170330 | ZFYVE26 | c.4271G>C (p.Arg1424Thr) n.4408G>C c.*2350+218G>C (n.*2350+218G>C) c.2762G>C (p.Arg921Thr) c.1946G>C (p.Arg649Thr) c.1853G>C (p.Arg618Thr) | |
| 14 | g.67782881C>T | CA390170326 | ZFYVE26 | c.4271G>A (p.Arg1424Lys) n.4408G>A c.*2350+218G>A (n.*2350+218G>A) c.2762G>A (p.Arg921Lys) c.1946G>A (p.Arg649Lys) c.1853G>A (p.Arg618Lys) | |
| 14 | g.67782882T>A | CA390170333 | ZFYVE26 | c.4270A>T (p.Arg1424Ter) n.4407A>T c.*2350+217A>T (n.*2350+217A>T) c.2761A>T (p.Arg921Ter) c.1945A>T (p.Arg649Ter) c.1852A>T (p.Arg618Ter) | |
| 14 | g.67782882T>C | CA390170334 | ZFYVE26 | c.4270A>G (p.Arg1424Gly) n.4407A>G c.*2350+217A>G (n.*2350+217A>G) c.2761A>G (p.Arg921Gly) c.1945A>G (p.Arg649Gly) c.1852A>G (p.Arg618Gly) | |
| 14 | g.67782882T>G | CA486970601 | ZFYVE26 | c.4270A>C (p.Arg1424=) n.4407A>C c.*2350+217A>C (n.*2350+217A>C) c.2761A>C (p.Arg921=) c.1945A>C (p.Arg649=) c.1852A>C (p.Arg618=) | |
| 14 | g.67782883G>A | CA486970602 | ZFYVE26 | c.4269C>T (p.Ala1423=) n.4406C>T c.*2350+216C>T (n.*2350+216C>T) c.2760C>T (p.Ala920=) c.1944C>T (p.Ala648=) c.1851C>T (p.Ala617=) | dbSNP |
| 14 | g.67782883G>C | CA486970604 | ZFYVE26 | c.4269C>G (p.Ala1423=) n.4406C>G c.*2350+216C>G (n.*2350+216C>G) c.2760C>G (p.Ala920=) c.1944C>G (p.Ala648=) c.1851C>G (p.Ala617=) | |
| 14 | g.67782883G= | CA2144027666 | ZFYVE26 | c.4269C= (p.Ala1423=) n.4406C= c.*2350+216C= (n.*2350+216C=) c.2760C= (p.Ala920=) c.1944C= (p.Ala648=) c.1851C= (p.Ala617=) | |
| 14 | g.67782883G>T | CA486970605 | ZFYVE26 | c.4269C>A (p.Ala1423=) n.4406C>A c.*2350+216C>A (n.*2350+216C>A) c.2760C>A (p.Ala920=) c.1944C>A (p.Ala648=) c.1851C>A (p.Ala617=) | |
| 14 | g.67782884del | CA2625374427 | ZFYVE26 | c.4269del (p.Arg1424GlufsTer20) n.4406del c.*2350+216del (n.*2350+216del) c.2760del (p.Arg921GlufsTer20) c.1944del (p.Arg649GlufsTer20) c.1851del (p.Arg618GlufsTer20) | gnomAD v4 |
| 14 | g.67782884G>A | CA390170336 | ZFYVE26 | c.4268C>T (p.Ala1423Val) n.4405C>T c.*2350+215C>T (n.*2350+215C>T) c.2759C>T (p.Ala920Val) c.1943C>T (p.Ala648Val) c.1850C>T (p.Ala617Val) | |
| 14 | g.67782884G>C | CA390170338 | ZFYVE26 | c.4268C>G (p.Ala1423Gly) n.4405C>G c.*2350+215C>G (n.*2350+215C>G) c.2759C>G (p.Ala920Gly) c.1943C>G (p.Ala648Gly) c.1850C>G (p.Ala617Gly) | |
| 14 | g.67782884G>T | CA390170340 | ZFYVE26 | c.4268C>A (p.Ala1423Asp) n.4405C>A c.*2350+215C>A (n.*2350+215C>A) c.2759C>A (p.Ala920Asp) c.1943C>A (p.Ala648Asp) c.1850C>A (p.Ala617Asp) | |
| 14 | g.67782885C>A | CA390170342 | ZFYVE26 | c.4267G>T (p.Ala1423Ser) n.4404G>T c.*2350+214G>T (n.*2350+214G>T) c.2758G>T (p.Ala920Ser) c.1942G>T (p.Ala648Ser) c.1849G>T (p.Ala617Ser) | gnomAD v4 |
| 14 | g.67782885C>G | CA390170344 | ZFYVE26 | c.4267G>C (p.Ala1423Pro) n.4404G>C c.*2350+214G>C (n.*2350+214G>C) c.2758G>C (p.Ala920Pro) c.1942G>C (p.Ala648Pro) c.1849G>C (p.Ala617Pro) | |
| 14 | g.67782885C>T | CA390170346 | ZFYVE26 | c.4267G>A (p.Ala1423Thr) n.4404G>A c.*2350+214G>A (n.*2350+214G>A) c.2758G>A (p.Ala920Thr) c.1942G>A (p.Ala648Thr) c.1849G>A (p.Ala617Thr) | |
| 14 | g.67782886C>A | CA486970609 | ZFYVE26 | c.4266G>T (p.Val1422=) n.4403G>T c.*2350+213G>T (n.*2350+213G>T) c.2757G>T (p.Val919=) c.1941G>T (p.Val647=) c.1848G>T (p.Val616=) | |
| 14 | g.67782886C>G | CA486970610 | ZFYVE26 | c.4266G>C (p.Val1422=) n.4403G>C c.*2350+213G>C (n.*2350+213G>C) c.2757G>C (p.Val919=) c.1941G>C (p.Val647=) c.1848G>C (p.Val616=) | |
| 14 | g.67782886C>T | CA486970611 | ZFYVE26 | c.4266G>A (p.Val1422=) n.4403G>A c.*2350+213G>A (n.*2350+213G>A) c.2757G>A (p.Val919=) c.1941G>A (p.Val647=) c.1848G>A (p.Val616=) | |
| 14 | g.67782887A= | CA2144027667 | ZFYVE26 | c.4265T= (p.Val1422=) n.4402T= c.*2350+212T= (n.*2350+212T=) c.2756T= (p.Val919=) c.1940T= (p.Val647=) c.1847T= (p.Val616=) | |
| 14 | g.67782887A>C | CA390170348 | ZFYVE26 | c.4265T>G (p.Val1422Gly) n.4402T>G c.*2350+212T>G (n.*2350+212T>G) c.2756T>G (p.Val919Gly) c.1940T>G (p.Val647Gly) c.1847T>G (p.Val616Gly) | |
| 14 | g.67782887A>G | CA7239811 | ZFYVE26 | c.4265T>C (p.Val1422Ala) n.4402T>C c.*2350+212T>C (n.*2350+212T>C) c.2756T>C (p.Val919Ala) c.1940T>C (p.Val647Ala) c.1847T>C (p.Val616Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782887A>T | CA390170351 | ZFYVE26 | c.4265T>A (p.Val1422Glu) n.4402T>A c.*2350+212T>A (n.*2350+212T>A) c.2756T>A (p.Val919Glu) c.1940T>A (p.Val647Glu) c.1847T>A (p.Val616Glu) | |
| 14 | g.67782888C>A | CA390170353 | ZFYVE26 | c.4264G>T (p.Val1422Leu) n.4401G>T c.*2350+211G>T (n.*2350+211G>T) c.2755G>T (p.Val919Leu) c.1939G>T (p.Val647Leu) c.1846G>T (p.Val616Leu) | |
| 14 | g.67782888C= | CA2144027668 | ZFYVE26 | c.4264G= (p.Val1422=) n.4401G= c.*2350+211G= (n.*2350+211G=) c.2755G= (p.Val919=) c.1939G= (p.Val647=) c.1846G= (p.Val616=) | |
| 14 | g.67782888C>G | CA390170355 | ZFYVE26 | c.4264G>C (p.Val1422Leu) n.4401G>C c.*2350+211G>C (n.*2350+211G>C) c.2755G>C (p.Val919Leu) c.1939G>C (p.Val647Leu) c.1846G>C (p.Val616Leu) | |
| 14 | g.67782888C>T | CA7239812 | ZFYVE26 | c.4264G>A (p.Val1422Met) n.4401G>A c.*2350+211G>A (n.*2350+211G>A) c.2755G>A (p.Val919Met) c.1939G>A (p.Val647Met) c.1846G>A (p.Val616Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782889C>A | CA390170357 | ZFYVE26 | c.4263G>T (p.Leu1421Phe) n.4400G>T c.*2350+210G>T (n.*2350+210G>T) c.2754G>T (p.Leu918Phe) c.1938G>T (p.Leu646Phe) c.1845G>T (p.Leu615Phe) | |
| 14 | g.67782889C>G | CA390170359 | ZFYVE26 | c.4263G>C (p.Leu1421Phe) n.4400G>C c.*2350+210G>C (n.*2350+210G>C) c.2754G>C (p.Leu918Phe) c.1938G>C (p.Leu646Phe) c.1845G>C (p.Leu615Phe) | |
| 14 | g.67782889C>T | CA486970614 | ZFYVE26 | c.4263G>A (p.Leu1421=) n.4400G>A c.*2350+210G>A (n.*2350+210G>A) c.2754G>A (p.Leu918=) c.1938G>A (p.Leu646=) c.1845G>A (p.Leu615=) | ClinVar gnomAD v4 |
| 14 | g.67782890A>C | CA390170360 | ZFYVE26 | c.4262T>G (p.Leu1421Trp) n.4399T>G c.*2350+209T>G (n.*2350+209T>G) c.2753T>G (p.Leu918Trp) c.1937T>G (p.Leu646Trp) c.1844T>G (p.Leu615Trp) | |
| 14 | g.67782890A>G | CA390170362 | ZFYVE26 | c.4262T>C (p.Leu1421Ser) n.4399T>C c.*2350+209T>C (n.*2350+209T>C) c.2753T>C (p.Leu918Ser) c.1937T>C (p.Leu646Ser) c.1844T>C (p.Leu615Ser) | |
| 14 | g.67782890A>T | CA390170364 | ZFYVE26 | c.4262T>A (p.Leu1421Ter) n.4399T>A c.*2350+209T>A (n.*2350+209T>A) c.2753T>A (p.Leu918Ter) c.1937T>A (p.Leu646Ter) c.1844T>A (p.Leu615Ter) | ClinVar |
| 14 | g.67782891A= | CA2144027669 | ZFYVE26 | c.4261T= (p.Leu1421=) n.4398T= c.*2350+208T= (n.*2350+208T=) c.2752T= (p.Leu918=) c.1936T= (p.Leu646=) c.1843T= (p.Leu615=) | |
| 14 | g.67782891A>C | CA7239813 | ZFYVE26 | c.4261T>G (p.Leu1421Val) n.4398T>G c.*2350+208T>G (n.*2350+208T>G) c.2752T>G (p.Leu918Val) c.1936T>G (p.Leu646Val) c.1843T>G (p.Leu615Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782891A>G | CA486970616 | ZFYVE26 | c.4261T>C (p.Leu1421=) n.4398T>C c.*2350+208T>C (n.*2350+208T>C) c.2752T>C (p.Leu918=) c.1936T>C (p.Leu646=) c.1843T>C (p.Leu615=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782891A>T | CA390170366 | ZFYVE26 | c.4261T>A (p.Leu1421Met) n.4398T>A c.*2350+208T>A (n.*2350+208T>A) c.2752T>A (p.Leu918Met) c.1936T>A (p.Leu646Met) c.1843T>A (p.Leu615Met) | |
| 14 | g.67782892G>A | CA7239814 | ZFYVE26 | c.4260C>T (p.Ser1420=) n.4397C>T c.*2350+207C>T (n.*2350+207C>T) c.2751C>T (p.Ser917=) c.1935C>T (p.Ser645=) c.1842C>T (p.Ser614=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782892G>C | CA486970619 | ZFYVE26 | c.4260C>G (p.Ser1420=) n.4397C>G c.*2350+207C>G (n.*2350+207C>G) c.2751C>G (p.Ser917=) c.1935C>G (p.Ser645=) c.1842C>G (p.Ser614=) | |
| 14 | g.67782892G= | CA2144027670 | ZFYVE26 | c.4260C= (p.Ser1420=) n.4397C= c.*2350+207C= (n.*2350+207C=) c.2751C= (p.Ser917=) c.1935C= (p.Ser645=) c.1842C= (p.Ser614=) | |
| 14 | g.67782892G>T | CA486970620 | ZFYVE26 | c.4260C>A (p.Ser1420=) n.4397C>A c.*2350+207C>A (n.*2350+207C>A) c.2751C>A (p.Ser917=) c.1935C>A (p.Ser645=) c.1842C>A (p.Ser614=) | |
| 14 | g.67782893G>A | CA390170370 | ZFYVE26 | c.4259C>T (p.Ser1420Phe) n.4396C>T c.*2350+206C>T (n.*2350+206C>T) c.2750C>T (p.Ser917Phe) c.1934C>T (p.Ser645Phe) c.1841C>T (p.Ser614Phe) | gnomAD v4 |
| 14 | g.67782893G>C | CA390170372 | ZFYVE26 | c.4259C>G (p.Ser1420Cys) n.4396C>G c.*2350+206C>G (n.*2350+206C>G) c.2750C>G (p.Ser917Cys) c.1934C>G (p.Ser645Cys) c.1841C>G (p.Ser614Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782893G= | CA2144027671 | ZFYVE26 | c.4259C= (p.Ser1420=) n.4396C= c.*2350+206C= (n.*2350+206C=) c.2750C= (p.Ser917=) c.1934C= (p.Ser645=) c.1841C= (p.Ser614=) | |
| 14 | g.67782893G>T | CA390170374 | ZFYVE26 | c.4259C>A (p.Ser1420Tyr) n.4396C>A c.*2350+206C>A (n.*2350+206C>A) c.2750C>A (p.Ser917Tyr) c.1934C>A (p.Ser645Tyr) c.1841C>A (p.Ser614Tyr) | |
| 14 | g.67782894A>C | CA390170376 | ZFYVE26 | c.4258T>G (p.Ser1420Ala) n.4395T>G c.*2350+205T>G (n.*2350+205T>G) c.2749T>G (p.Ser917Ala) c.1933T>G (p.Ser645Ala) c.1840T>G (p.Ser614Ala) | |
| 14 | g.67782894A>G | CA390170378 | ZFYVE26 | c.4258T>C (p.Ser1420Pro) n.4395T>C c.*2350+205T>C (n.*2350+205T>C) c.2749T>C (p.Ser917Pro) c.1933T>C (p.Ser645Pro) c.1840T>C (p.Ser614Pro) | |
| 14 | g.67782894A>T | CA390170380 | ZFYVE26 | c.4258T>A (p.Ser1420Thr) n.4395T>A c.*2350+205T>A (n.*2350+205T>A) c.2749T>A (p.Ser917Thr) c.1933T>A (p.Ser645Thr) c.1840T>A (p.Ser614Thr) | gnomAD v4 |
| 14 | g.67782895T>A | CA390170382 | ZFYVE26 | c.4257A>T (p.Glu1419Asp) n.4394A>T c.*2350+204A>T (n.*2350+204A>T) c.2748A>T (p.Glu916Asp) c.1932A>T (p.Glu644Asp) c.1839A>T (p.Glu613Asp) | |
| 14 | g.67782895T>C | CA486970622 | ZFYVE26 | c.4257A>G (p.Glu1419=) n.4394A>G c.*2350+204A>G (n.*2350+204A>G) c.2748A>G (p.Glu916=) c.1932A>G (p.Glu644=) c.1839A>G (p.Glu613=) | dbSNP gnomAD v4 |
| 14 | g.67782895T>G | CA390170384 | ZFYVE26 | c.4257A>C (p.Glu1419Asp) n.4394A>C c.*2350+204A>C (n.*2350+204A>C) c.2748A>C (p.Glu916Asp) c.1932A>C (p.Glu644Asp) c.1839A>C (p.Glu613Asp) | |
| 14 | g.67782895T= | CA2144027672 | ZFYVE26 | c.4257A= (p.Glu1419=) n.4394A= c.*2350+204A= (n.*2350+204A=) c.2748A= (p.Glu916=) c.1932A= (p.Glu644=) c.1839A= (p.Glu613=) | |
| 14 | g.67782896T>A | CA7239815 | ZFYVE26 | c.4256A>T (p.Glu1419Val) n.4393A>T c.*2350+203A>T (n.*2350+203A>T) c.2747A>T (p.Glu916Val) c.1931A>T (p.Glu644Val) c.1838A>T (p.Glu613Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782896T>C | CA390170388 | ZFYVE26 | c.4256A>G (p.Glu1419Gly) n.4393A>G c.*2350+203A>G (n.*2350+203A>G) c.2747A>G (p.Glu916Gly) c.1931A>G (p.Glu644Gly) c.1838A>G (p.Glu613Gly) | |
| 14 | g.67782896T>G | CA390170386 | ZFYVE26 | c.4256A>C (p.Glu1419Ala) n.4393A>C c.*2350+203A>C (n.*2350+203A>C) c.2747A>C (p.Glu916Ala) c.1931A>C (p.Glu644Ala) c.1838A>C (p.Glu613Ala) | |
| 14 | g.67782896T= | CA2144027673 | ZFYVE26 | c.4256A= (p.Glu1419=) n.4393A= c.*2350+203A= (n.*2350+203A=) c.2747A= (p.Glu916=) c.1931A= (p.Glu644=) c.1838A= (p.Glu613=) | |
| 14 | g.67782897C>A | CA390170393 | ZFYVE26 | c.4255G>T (p.Glu1419Ter) n.4392G>T c.*2350+202G>T (n.*2350+202G>T) c.2746G>T (p.Glu916Ter) c.1930G>T (p.Glu644Ter) c.1837G>T (p.Glu613Ter) | COSMIC |
| 14 | g.67782897C>G | CA390170391 | ZFYVE26 | c.4255G>C (p.Glu1419Gln) n.4392G>C c.*2350+202G>C (n.*2350+202G>C) c.2746G>C (p.Glu916Gln) c.1930G>C (p.Glu644Gln) c.1837G>C (p.Glu613Gln) | |
| 14 | g.67782897C>T | CA390170395 | ZFYVE26 | c.4255G>A (p.Glu1419Lys) n.4392G>A c.*2350+202G>A (n.*2350+202G>A) c.2746G>A (p.Glu916Lys) c.1930G>A (p.Glu644Lys) c.1837G>A (p.Glu613Lys) | |
| 14 | g.67782898C>A | CA390170397 | ZFYVE26 | c.4254G>T (p.Glu1418Asp) n.4391G>T c.*2350+201G>T (n.*2350+201G>T) c.2745G>T (p.Glu915Asp) c.1929G>T (p.Glu643Asp) c.1836G>T (p.Glu612Asp) | |
| 14 | g.67782898C>G | CA390170399 | ZFYVE26 | c.4254G>C (p.Glu1418Asp) n.4391G>C c.*2350+201G>C (n.*2350+201G>C) c.2745G>C (p.Glu915Asp) c.1929G>C (p.Glu643Asp) c.1836G>C (p.Glu612Asp) | |
| 14 | g.67782898C>T | CA486970627 | ZFYVE26 | c.4254G>A (p.Glu1418=) n.4391G>A c.*2350+201G>A (n.*2350+201G>A) c.2745G>A (p.Glu915=) c.1929G>A (p.Glu643=) c.1836G>A (p.Glu612=) | |
| 14 | g.67782899T>A | CA390170401 | ZFYVE26 | c.4253A>T (p.Glu1418Val) n.4390A>T c.*2350+200A>T (n.*2350+200A>T) c.2744A>T (p.Glu915Val) c.1928A>T (p.Glu643Val) c.1835A>T (p.Glu612Val) | |
| 14 | g.67782899T>C | CA390170402 | ZFYVE26 | c.4253A>G (p.Glu1418Gly) n.4390A>G c.*2350+200A>G (n.*2350+200A>G) c.2744A>G (p.Glu915Gly) c.1928A>G (p.Glu643Gly) c.1835A>G (p.Glu612Gly) | dbSNP gnomAD v4 |
| 14 | g.67782899T>G | CA390170404 | ZFYVE26 | c.4253A>C (p.Glu1418Ala) n.4390A>C c.*2350+200A>C (n.*2350+200A>C) c.2744A>C (p.Glu915Ala) c.1928A>C (p.Glu643Ala) c.1835A>C (p.Glu612Ala) | |
| 14 | g.67782899T= | CA2144027674 | ZFYVE26 | c.4253A= (p.Glu1418=) n.4390A= c.*2350+200A= (n.*2350+200A=) c.2744A= (p.Glu915=) c.1928A= (p.Glu643=) c.1835A= (p.Glu612=) | |
| 14 | g.67782900C>A | CA390170406 | ZFYVE26 | c.4252G>T (p.Glu1418Ter) n.4389G>T c.*2350+199G>T (n.*2350+199G>T) c.2743G>T (p.Glu915Ter) c.1927G>T (p.Glu643Ter) c.1834G>T (p.Glu612Ter) | |
| 14 | g.67782900C>G | CA390170407 | ZFYVE26 | c.4252G>C (p.Glu1418Gln) n.4389G>C c.*2350+199G>C (n.*2350+199G>C) c.2743G>C (p.Glu915Gln) c.1927G>C (p.Glu643Gln) c.1834G>C (p.Glu612Gln) | |
| 14 | g.67782900C>T | CA390170410 | ZFYVE26 | c.4252G>A (p.Glu1418Lys) n.4389G>A c.*2350+199G>A (n.*2350+199G>A) c.2743G>A (p.Glu915Lys) c.1927G>A (p.Glu643Lys) c.1834G>A (p.Glu612Lys) | |
| 14 | g.67782901A>C | CA390170411 | ZFYVE26 | c.4251T>G (p.Phe1417Leu) n.4388T>G c.*2350+198T>G (n.*2350+198T>G) c.2742T>G (p.Phe914Leu) c.1926T>G (p.Phe642Leu) c.1833T>G (p.Phe611Leu) | |
| 14 | g.67782901A>G | CA486970631 | ZFYVE26 | c.4251T>C (p.Phe1417=) n.4388T>C c.*2350+198T>C (n.*2350+198T>C) c.2742T>C (p.Phe914=) c.1926T>C (p.Phe642=) c.1833T>C (p.Phe611=) | |
| 14 | g.67782901A>T | CA390170413 | ZFYVE26 | c.4251T>A (p.Phe1417Leu) n.4388T>A c.*2350+198T>A (n.*2350+198T>A) c.2742T>A (p.Phe914Leu) c.1926T>A (p.Phe642Leu) c.1833T>A (p.Phe611Leu) | gnomAD v4 |
| 14 | g.67782902A>C | CA390170416 | ZFYVE26 | c.4250T>G (p.Phe1417Cys) n.4387T>G c.*2350+197T>G (n.*2350+197T>G) c.2741T>G (p.Phe914Cys) c.1925T>G (p.Phe642Cys) c.1832T>G (p.Phe611Cys) | |
| 14 | g.67782902A>G | CA390170417 | ZFYVE26 | c.4250T>C (p.Phe1417Ser) n.4387T>C c.*2350+197T>C (n.*2350+197T>C) c.2741T>C (p.Phe914Ser) c.1925T>C (p.Phe642Ser) c.1832T>C (p.Phe611Ser) | |
| 14 | g.67782902A>T | CA390170419 | ZFYVE26 | c.4250T>A (p.Phe1417Tyr) n.4387T>A c.*2350+197T>A (n.*2350+197T>A) c.2741T>A (p.Phe914Tyr) c.1925T>A (p.Phe642Tyr) c.1832T>A (p.Phe611Tyr) | |
| 14 | g.67782903A>C | CA390170425 | ZFYVE26 | c.4249T>G (p.Phe1417Val) n.4386T>G c.*2350+196T>G (n.*2350+196T>G) c.2740T>G (p.Phe914Val) c.1924T>G (p.Phe642Val) c.1831T>G (p.Phe611Val) | |
| 14 | g.67782903A>G | CA390170424 | ZFYVE26 | c.4249T>C (p.Phe1417Leu) n.4386T>C c.*2350+196T>C (n.*2350+196T>C) c.2740T>C (p.Phe914Leu) c.1924T>C (p.Phe642Leu) c.1831T>C (p.Phe611Leu) | |
| 14 | g.67782903A>T | CA390170421 | ZFYVE26 | c.4249T>A (p.Phe1417Ile) n.4386T>A c.*2350+196T>A (n.*2350+196T>A) c.2740T>A (p.Phe914Ile) c.1924T>A (p.Phe642Ile) c.1831T>A (p.Phe611Ile) | |
| 14 | g.67782904A>C | CA486970634 | ZFYVE26 | c.4248T>G (p.Ala1416=) n.4385T>G c.*2350+195T>G (n.*2350+195T>G) c.2739T>G (p.Ala913=) c.1923T>G (p.Ala641=) c.1830T>G (p.Ala610=) | |
| 14 | g.67782904A>G | CA486970635 | ZFYVE26 | c.4248T>C (p.Ala1416=) n.4385T>C c.*2350+195T>C (n.*2350+195T>C) c.2739T>C (p.Ala913=) c.1923T>C (p.Ala641=) c.1830T>C (p.Ala610=) | |
| 14 | g.67782904A>T | CA486970636 | ZFYVE26 | c.4248T>A (p.Ala1416=) n.4385T>A c.*2350+195T>A (n.*2350+195T>A) c.2739T>A (p.Ala913=) c.1923T>A (p.Ala641=) c.1830T>A (p.Ala610=) | |
| 14 | g.67782905G>A | CA390170428 | ZFYVE26 | c.4247C>T (p.Ala1416Val) n.4384C>T c.*2350+194C>T (n.*2350+194C>T) c.2738C>T (p.Ala913Val) c.1922C>T (p.Ala641Val) c.1829C>T (p.Ala610Val) | dbSNP |
| 14 | g.67782905G>C | CA390170429 | ZFYVE26 | c.4247C>G (p.Ala1416Gly) n.4384C>G c.*2350+194C>G (n.*2350+194C>G) c.2738C>G (p.Ala913Gly) c.1922C>G (p.Ala641Gly) c.1829C>G (p.Ala610Gly) | |
| 14 | g.67782905G= | CA2144027675 | ZFYVE26 | c.4247C= (p.Ala1416=) n.4384C= c.*2350+194C= (n.*2350+194C=) c.2738C= (p.Ala913=) c.1922C= (p.Ala641=) c.1829C= (p.Ala610=) | |
| 14 | g.67782905G>T | CA390170431 | ZFYVE26 | c.4247C>A (p.Ala1416Asp) n.4384C>A c.*2350+194C>A (n.*2350+194C>A) c.2738C>A (p.Ala913Asp) c.1922C>A (p.Ala641Asp) c.1829C>A (p.Ala610Asp) | |
| 14 | g.67782906C>A | CA390170434 | ZFYVE26 | c.4246G>T (p.Ala1416Ser) n.4383G>T c.*2350+193G>T (n.*2350+193G>T) c.2737G>T (p.Ala913Ser) c.1921G>T (p.Ala641Ser) c.1828G>T (p.Ala610Ser) | |
| 14 | g.67782906C= | CA2144027676 | ZFYVE26 | c.4246G= (p.Ala1416=) n.4383G= c.*2350+193G= (n.*2350+193G=) c.2737G= (p.Ala913=) c.1921G= (p.Ala641=) c.1828G= (p.Ala610=) | |
| 14 | g.67782906C>G | CA390170435 | ZFYVE26 | c.4246G>C (p.Ala1416Pro) n.4383G>C c.*2350+193G>C (n.*2350+193G>C) c.2737G>C (p.Ala913Pro) c.1921G>C (p.Ala641Pro) c.1828G>C (p.Ala610Pro) | |
| 14 | g.67782906C>T | CA7239816 | ZFYVE26 | c.4246G>A (p.Ala1416Thr) n.4383G>A c.*2350+193G>A (n.*2350+193G>A) c.2737G>A (p.Ala913Thr) c.1921G>A (p.Ala641Thr) c.1828G>A (p.Ala610Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782907C>A | CA390170438 | ZFYVE26 | c.4245G>T (p.Glu1415Asp) n.4382G>T c.*2350+192G>T (n.*2350+192G>T) c.2736G>T (p.Glu912Asp) c.1920G>T (p.Glu640Asp) c.1827G>T (p.Glu609Asp) | |
| 14 | g.67782907C= | CA2144027677 | ZFYVE26 | c.4245G= (p.Glu1415=) n.4382G= c.*2350+192G= (n.*2350+192G=) c.2736G= (p.Glu912=) c.1920G= (p.Glu640=) c.1827G= (p.Glu609=) | |
| 14 | g.67782907C>G | CA390170440 | ZFYVE26 | c.4245G>C (p.Glu1415Asp) n.4382G>C c.*2350+192G>C (n.*2350+192G>C) c.2736G>C (p.Glu912Asp) c.1920G>C (p.Glu640Asp) c.1827G>C (p.Glu609Asp) | |
| 14 | g.67782907C>T | CA7239817 | ZFYVE26 | c.4245G>A (p.Glu1415=) n.4382G>A c.*2350+192G>A (n.*2350+192G>A) c.2736G>A (p.Glu912=) c.1920G>A (p.Glu640=) c.1827G>A (p.Glu609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782908T>A | CA390170443 | ZFYVE26 | c.4244A>T (p.Glu1415Val) n.4381A>T c.*2350+191A>T (n.*2350+191A>T) c.2735A>T (p.Glu912Val) c.1919A>T (p.Glu640Val) c.1826A>T (p.Glu609Val) | |
| 14 | g.67782908T>C | CA390170444 | ZFYVE26 | c.4244A>G (p.Glu1415Gly) n.4381A>G c.*2350+191A>G (n.*2350+191A>G) c.2735A>G (p.Glu912Gly) c.1919A>G (p.Glu640Gly) c.1826A>G (p.Glu609Gly) | |
| 14 | g.67782908T>G | CA390170445 | ZFYVE26 | c.4244A>C (p.Glu1415Ala) n.4381A>C c.*2350+191A>C (n.*2350+191A>C) c.2735A>C (p.Glu912Ala) c.1919A>C (p.Glu640Ala) c.1826A>C (p.Glu609Ala) | |
| 14 | g.67782909C>A | CA390170450 | ZFYVE26 | c.4243G>T (p.Glu1415Ter) n.4380G>T c.*2350+190G>T (n.*2350+190G>T) c.2734G>T (p.Glu912Ter) c.1918G>T (p.Glu640Ter) c.1825G>T (p.Glu609Ter) | |
| 14 | g.67782909C>G | CA390170452 | ZFYVE26 | c.4243G>C (p.Glu1415Gln) n.4380G>C c.*2350+190G>C (n.*2350+190G>C) c.2734G>C (p.Glu912Gln) c.1918G>C (p.Glu640Gln) c.1825G>C (p.Glu609Gln) | |
| 14 | g.67782909C>T | CA390170448 | ZFYVE26 | c.4243G>A (p.Glu1415Lys) n.4380G>A c.*2350+190G>A (n.*2350+190G>A) c.2734G>A (p.Glu912Lys) c.1918G>A (p.Glu640Lys) c.1825G>A (p.Glu609Lys) | |
| 14 | g.67782910A>C | CA390170454 | ZFYVE26 | c.4242T>G (p.Ser1414Arg) n.4379T>G c.*2350+189T>G (n.*2350+189T>G) c.2733T>G (p.Ser911Arg) c.1917T>G (p.Ser639Arg) c.1824T>G (p.Ser608Arg) | |
| 14 | g.67782910A>G | CA486970641 | ZFYVE26 | c.4242T>C (p.Ser1414=) n.4379T>C c.*2350+189T>C (n.*2350+189T>C) c.2733T>C (p.Ser911=) c.1917T>C (p.Ser639=) c.1824T>C (p.Ser608=) | |
| 14 | g.67782910A>T | CA390170456 | ZFYVE26 | c.4242T>A (p.Ser1414Arg) n.4379T>A c.*2350+189T>A (n.*2350+189T>A) c.2733T>A (p.Ser911Arg) c.1917T>A (p.Ser639Arg) c.1824T>A (p.Ser608Arg) | |
| 14 | g.67782911C>A | CA390170458 | ZFYVE26 | c.4241G>T (p.Ser1414Ile) n.4378G>T c.*2350+188G>T (n.*2350+188G>T) c.2732G>T (p.Ser911Ile) c.1916G>T (p.Ser639Ile) c.1823G>T (p.Ser608Ile) | |
| 14 | g.67782911C= | CA2144027678 | ZFYVE26 | c.4241G= (p.Ser1414=) n.4378G= c.*2350+188G= (n.*2350+188G=) c.2732G= (p.Ser911=) c.1916G= (p.Ser639=) c.1823G= (p.Ser608=) | |
| 14 | g.67782911C>G | CA390170460 | ZFYVE26 | c.4241G>C (p.Ser1414Thr) n.4378G>C c.*2350+188G>C (n.*2350+188G>C) c.2732G>C (p.Ser911Thr) c.1916G>C (p.Ser639Thr) c.1823G>C (p.Ser608Thr) | |
| 14 | g.67782911C>T | CA390170462 | ZFYVE26 | c.4241G>A (p.Ser1414Asn) n.4378G>A c.*2350+188G>A (n.*2350+188G>A) c.2732G>A (p.Ser911Asn) c.1916G>A (p.Ser639Asn) c.1823G>A (p.Ser608Asn) | dbSNP |
| 14 | g.67782912T>A | CA390170467 | ZFYVE26 | c.4240A>T (p.Ser1414Cys) n.4377A>T c.*2350+187A>T (n.*2350+187A>T) c.2731A>T (p.Ser911Cys) c.1915A>T (p.Ser639Cys) c.1822A>T (p.Ser608Cys) | |
| 14 | g.67782912T>C | CA390170465 | ZFYVE26 | c.4240A>G (p.Ser1414Gly) n.4377A>G c.*2350+187A>G (n.*2350+187A>G) c.2731A>G (p.Ser911Gly) c.1915A>G (p.Ser639Gly) c.1822A>G (p.Ser608Gly) | |
| 14 | g.67782912T>G | CA390170463 | ZFYVE26 | c.4240A>C (p.Ser1414Arg) n.4377A>C c.*2350+187A>C (n.*2350+187A>C) c.2731A>C (p.Ser911Arg) c.1915A>C (p.Ser639Arg) c.1822A>C (p.Ser608Arg) | |
| 14 | g.67782913C>A | CA486970645 | ZFYVE26 | c.4239G>T (p.Leu1413=) n.4376G>T c.*2350+186G>T (n.*2350+186G>T) c.2730G>T (p.Leu910=) c.1914G>T (p.Leu638=) c.1821G>T (p.Leu607=) | |
| 14 | g.67782913C= | CA2144027679 | ZFYVE26 | c.4239G= (p.Leu1413=) n.4376G= c.*2350+186G= (n.*2350+186G=) c.2730G= (p.Leu910=) c.1914G= (p.Leu638=) c.1821G= (p.Leu607=) | |
| 14 | g.67782913C>G | CA486970646 | ZFYVE26 | c.4239G>C (p.Leu1413=) n.4376G>C c.*2350+186G>C (n.*2350+186G>C) c.2730G>C (p.Leu910=) c.1914G>C (p.Leu638=) c.1821G>C (p.Leu607=) | |
| 14 | g.67782913C>T | CA7239818 | ZFYVE26 | c.4239G>A (p.Leu1413=) n.4376G>A c.*2350+186G>A (n.*2350+186G>A) c.2730G>A (p.Leu910=) c.1914G>A (p.Leu638=) c.1821G>A (p.Leu607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782914A= | CA2144027680 | ZFYVE26 | c.4238T= (p.Leu1413=) n.4375T= c.*2350+185T= (n.*2350+185T=) c.2729T= (p.Leu910=) c.1913T= (p.Leu638=) c.1820T= (p.Leu607=) | |
| 14 | g.67782914A>C | CA390170471 | ZFYVE26 | c.4238T>G (p.Leu1413Arg) n.4375T>G c.*2350+185T>G (n.*2350+185T>G) c.2729T>G (p.Leu910Arg) c.1913T>G (p.Leu638Arg) c.1820T>G (p.Leu607Arg) | |
| 14 | g.67782914A>G | CA390170472 | ZFYVE26 | c.4238T>C (p.Leu1413Pro) n.4375T>C c.*2350+185T>C (n.*2350+185T>C) c.2729T>C (p.Leu910Pro) c.1913T>C (p.Leu638Pro) c.1820T>C (p.Leu607Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782914A>T | CA390170474 | ZFYVE26 | c.4238T>A (p.Leu1413Gln) n.4375T>A c.*2350+185T>A (n.*2350+185T>A) c.2729T>A (p.Leu910Gln) c.1913T>A (p.Leu638Gln) c.1820T>A (p.Leu607Gln) | |
| 14 | g.67782915G>A | CA486970650 | ZFYVE26 | c.4237C>T (p.Leu1413=) n.4374C>T c.*2350+184C>T (n.*2350+184C>T) c.2728C>T (p.Leu910=) c.1912C>T (p.Leu638=) c.1819C>T (p.Leu607=) | |
| 14 | g.67782915G>C | CA390170476 | ZFYVE26 | c.4237C>G (p.Leu1413Val) n.4374C>G c.*2350+184C>G (n.*2350+184C>G) c.2728C>G (p.Leu910Val) c.1912C>G (p.Leu638Val) c.1819C>G (p.Leu607Val) | |
| 14 | g.67782915G>T | CA390170478 | ZFYVE26 | c.4237C>A (p.Leu1413Met) n.4374C>A c.*2350+184C>A (n.*2350+184C>A) c.2728C>A (p.Leu910Met) c.1912C>A (p.Leu638Met) c.1819C>A (p.Leu607Met) | |
| 14 | g.67782916T>A | CA486970653 | ZFYVE26 | c.4236A>T (p.Val1412=) n.4373A>T c.*2350+183A>T (n.*2350+183A>T) c.2727A>T (p.Val909=) c.1911A>T (p.Val637=) c.1818A>T (p.Val606=) | |
| 14 | g.67782916T>C | CA486970654 | ZFYVE26 | c.4236A>G (p.Val1412=) n.4373A>G c.*2350+183A>G (n.*2350+183A>G) c.2727A>G (p.Val909=) c.1911A>G (p.Val637=) c.1818A>G (p.Val606=) | ClinVar dbSNP |
| 14 | g.67782916T>G | CA486970651 | ZFYVE26 | c.4236A>C (p.Val1412=) n.4373A>C c.*2350+183A>C (n.*2350+183A>C) c.2727A>C (p.Val909=) c.1911A>C (p.Val637=) c.1818A>C (p.Val606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782916T= | CA2144027681 | ZFYVE26 | c.4236A= (p.Val1412=) n.4373A= c.*2350+183A= (n.*2350+183A=) c.2727A= (p.Val909=) c.1911A= (p.Val637=) c.1818A= (p.Val606=) | |
| 14 | g.67782917A= | CA2144027682 | ZFYVE26 | c.4235T= (p.Val1412=) n.4372T= c.*2350+182T= (n.*2350+182T=) c.2726T= (p.Val909=) c.1910T= (p.Val637=) c.1817T= (p.Val606=) | |
| 14 | g.67782917A>C | CA390170480 | ZFYVE26 | c.4235T>G (p.Val1412Gly) n.4372T>G c.*2350+182T>G (n.*2350+182T>G) c.2726T>G (p.Val909Gly) c.1910T>G (p.Val637Gly) c.1817T>G (p.Val606Gly) | |
| 14 | g.67782917A>G | CA390170484 | ZFYVE26 | c.4235T>C (p.Val1412Ala) n.4372T>C c.*2350+182T>C (n.*2350+182T>C) c.2726T>C (p.Val909Ala) c.1910T>C (p.Val637Ala) c.1817T>C (p.Val606Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782917A>T | CA390170482 | ZFYVE26 | c.4235T>A (p.Val1412Glu) n.4372T>A c.*2350+182T>A (n.*2350+182T>A) c.2726T>A (p.Val909Glu) c.1910T>A (p.Val637Glu) c.1817T>A (p.Val606Glu) | |
| 14 | g.67782918C>A | CA390170486 | ZFYVE26 | c.4234G>T (p.Val1412Leu) n.4371G>T c.*2350+181G>T (n.*2350+181G>T) c.2725G>T (p.Val909Leu) c.1909G>T (p.Val637Leu) c.1816G>T (p.Val606Leu) | |
| 14 | g.67782918C>G | CA390170488 | ZFYVE26 | c.4234G>C (p.Val1412Leu) n.4371G>C c.*2350+181G>C (n.*2350+181G>C) c.2725G>C (p.Val909Leu) c.1909G>C (p.Val637Leu) c.1816G>C (p.Val606Leu) | |
| 14 | g.67782918C>T | CA390170490 | ZFYVE26 | c.4234G>A (p.Val1412Ile) n.4371G>A c.*2350+181G>A (n.*2350+181G>A) c.2725G>A (p.Val909Ile) c.1909G>A (p.Val637Ile) c.1816G>A (p.Val606Ile) | |
| 14 | g.67782919A= | CA2144027683 | ZFYVE26 | c.4233T= (p.Asp1411=) n.4370T= c.*2350+180T= (n.*2350+180T=) c.2724T= (p.Asp908=) c.1908T= (p.Asp636=) c.1815T= (p.Asp605=) | |
| 14 | g.67782919A>C | CA390170491 | ZFYVE26 | c.4233T>G (p.Asp1411Glu) n.4370T>G c.*2350+180T>G (n.*2350+180T>G) c.2724T>G (p.Asp908Glu) c.1908T>G (p.Asp636Glu) c.1815T>G (p.Asp605Glu) | gnomAD v4 |
| 14 | g.67782919A>G | CA486970657 | ZFYVE26 | c.4233T>C (p.Asp1411=) n.4370T>C c.*2350+180T>C (n.*2350+180T>C) c.2724T>C (p.Asp908=) c.1908T>C (p.Asp636=) c.1815T>C (p.Asp605=) | ClinVar dbSNP |
| 14 | g.67782919A>T | CA390170493 | ZFYVE26 | c.4233T>A (p.Asp1411Glu) n.4370T>A c.*2350+180T>A (n.*2350+180T>A) c.2724T>A (p.Asp908Glu) c.1908T>A (p.Asp636Glu) c.1815T>A (p.Asp605Glu) | |
| 14 | g.67782920T>A | CA390170495 | ZFYVE26 | c.4232A>T (p.Asp1411Val) n.4369A>T c.*2350+179A>T (n.*2350+179A>T) c.2723A>T (p.Asp908Val) c.1907A>T (p.Asp636Val) c.1814A>T (p.Asp605Val) | |
| 14 | g.67782920T>C | CA390170497 | ZFYVE26 | c.4232A>G (p.Asp1411Gly) n.4369A>G c.*2350+179A>G (n.*2350+179A>G) c.2723A>G (p.Asp908Gly) c.1907A>G (p.Asp636Gly) c.1814A>G (p.Asp605Gly) | |
| 14 | g.67782920T>G | CA390170499 | ZFYVE26 | c.4232A>C (p.Asp1411Ala) n.4369A>C c.*2350+179A>C (n.*2350+179A>C) c.2723A>C (p.Asp908Ala) c.1907A>C (p.Asp636Ala) c.1814A>C (p.Asp605Ala) | gnomAD v4 |
| 14 | g.67782921C>A | CA390170501 | ZFYVE26 | c.4231G>T (p.Asp1411Tyr) n.4368G>T c.*2350+178G>T (n.*2350+178G>T) c.2722G>T (p.Asp908Tyr) c.1906G>T (p.Asp636Tyr) c.1813G>T (p.Asp605Tyr) | |
| 14 | g.67782921C>G | CA390170502 | ZFYVE26 | c.4231G>C (p.Asp1411His) n.4368G>C c.*2350+178G>C (n.*2350+178G>C) c.2722G>C (p.Asp908His) c.1906G>C (p.Asp636His) c.1813G>C (p.Asp605His) | |
| 14 | g.67782921C>T | CA390170504 | ZFYVE26 | c.4231G>A (p.Asp1411Asn) n.4368G>A c.*2350+178G>A (n.*2350+178G>A) c.2722G>A (p.Asp908Asn) c.1906G>A (p.Asp636Asn) c.1813G>A (p.Asp605Asn) | |
| 14 | g.67782922T>A | CA486970661 | ZFYVE26 | c.4230A>T (p.Leu1410=) n.4367A>T c.*2350+177A>T (n.*2350+177A>T) c.2721A>T (p.Leu907=) c.1905A>T (p.Leu635=) c.1812A>T (p.Leu604=) | |
| 14 | g.67782922T>C | CA486970662 | ZFYVE26 | c.4230A>G (p.Leu1410=) n.4367A>G c.*2350+177A>G (n.*2350+177A>G) c.2721A>G (p.Leu907=) c.1905A>G (p.Leu635=) c.1812A>G (p.Leu604=) | |
| 14 | g.67782922T>G | CA486970663 | ZFYVE26 | c.4230A>C (p.Leu1410=) n.4367A>C c.*2350+177A>C (n.*2350+177A>C) c.2721A>C (p.Leu907=) c.1905A>C (p.Leu635=) c.1812A>C (p.Leu604=) | |
| 14 | g.67782923A= | CA2144027684 | ZFYVE26 | c.4229T= (p.Leu1410=) n.4366T= c.*2350+176T= (n.*2350+176T=) c.2720T= (p.Leu907=) c.1904T= (p.Leu635=) c.1811T= (p.Leu604=) | |
| 14 | g.67782923A>C | CA390170510 | ZFYVE26 | c.4229T>G (p.Leu1410Arg) n.4366T>G c.*2350+176T>G (n.*2350+176T>G) c.2720T>G (p.Leu907Arg) c.1904T>G (p.Leu635Arg) c.1811T>G (p.Leu604Arg) | |
| 14 | g.67782923A>G | CA390170509 | ZFYVE26 | c.4229T>C (p.Leu1410Pro) n.4366T>C c.*2350+176T>C (n.*2350+176T>C) c.2720T>C (p.Leu907Pro) c.1904T>C (p.Leu635Pro) c.1811T>C (p.Leu604Pro) | COSMIC |
| 14 | g.67782923A>T | CA390170507 | ZFYVE26 | c.4229T>A (p.Leu1410Gln) n.4366T>A c.*2350+176T>A (n.*2350+176T>A) c.2720T>A (p.Leu907Gln) c.1904T>A (p.Leu635Gln) c.1811T>A (p.Leu604Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782924G>A | CA486970665 | ZFYVE26 | c.4228C>T (p.Leu1410=) n.4365C>T c.*2350+175C>T (n.*2350+175C>T) c.2719C>T (p.Leu907=) c.1903C>T (p.Leu635=) c.1810C>T (p.Leu604=) | ClinVar dbSNP |
| 14 | g.67782924G>C | CA390170512 | ZFYVE26 | c.4228C>G (p.Leu1410Val) n.4365C>G c.*2350+175C>G (n.*2350+175C>G) c.2719C>G (p.Leu907Val) c.1903C>G (p.Leu635Val) c.1810C>G (p.Leu604Val) | |
| 14 | g.67782924G= | CA2144027685 | ZFYVE26 | c.4228C= (p.Leu1410=) n.4365C= c.*2350+175C= (n.*2350+175C=) c.2719C= (p.Leu907=) c.1903C= (p.Leu635=) c.1810C= (p.Leu604=) | |
| 14 | g.67782924G>T | CA390170514 | ZFYVE26 | c.4228C>A (p.Leu1410Ile) n.4365C>A c.*2350+175C>A (n.*2350+175C>A) c.2719C>A (p.Leu907Ile) c.1903C>A (p.Leu635Ile) c.1810C>A (p.Leu604Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782925G>A | CA486970666 | ZFYVE26 | c.4227C>T (p.Ala1409=) n.4364C>T c.*2350+174C>T (n.*2350+174C>T) c.2718C>T (p.Ala906=) c.1902C>T (p.Ala634=) c.1809C>T (p.Ala603=) | ClinVar gnomAD v4 |
| 14 | g.67782925G>C | CA486970667 | ZFYVE26 | c.4227C>G (p.Ala1409=) n.4364C>G c.*2350+174C>G (n.*2350+174C>G) c.2718C>G (p.Ala906=) c.1902C>G (p.Ala634=) c.1809C>G (p.Ala603=) | |
| 14 | g.67782925G>T | CA486970668 | ZFYVE26 | c.4227C>A (p.Ala1409=) n.4364C>A c.*2350+174C>A (n.*2350+174C>A) c.2718C>A (p.Ala906=) c.1902C>A (p.Ala634=) c.1809C>A (p.Ala603=) | |
| 14 | g.67782926G>A | CA390170516 | ZFYVE26 | c.4226C>T (p.Ala1409Val) n.4363C>T c.*2350+173C>T (n.*2350+173C>T) c.2717C>T (p.Ala906Val) c.1901C>T (p.Ala634Val) c.1808C>T (p.Ala603Val) | |
| 14 | g.67782926G>C | CA390170518 | ZFYVE26 | c.4226C>G (p.Ala1409Gly) n.4363C>G c.*2350+173C>G (n.*2350+173C>G) c.2717C>G (p.Ala906Gly) c.1901C>G (p.Ala634Gly) c.1808C>G (p.Ala603Gly) | |
| 14 | g.67782926G>T | CA390170520 | ZFYVE26 | c.4226C>A (p.Ala1409Asp) n.4363C>A c.*2350+173C>A (n.*2350+173C>A) c.2717C>A (p.Ala906Asp) c.1901C>A (p.Ala634Asp) c.1808C>A (p.Ala603Asp) | |
| 14 | g.67782927C>A | CA390170521 | ZFYVE26 | c.4225G>T (p.Ala1409Ser) n.4362G>T c.*2350+172G>T (n.*2350+172G>T) c.2716G>T (p.Ala906Ser) c.1900G>T (p.Ala634Ser) c.1807G>T (p.Ala603Ser) | dbSNP |
| 14 | g.67782927C= | CA2144027686 | ZFYVE26 | c.4225G= (p.Ala1409=) n.4362G= c.*2350+172G= (n.*2350+172G=) c.2716G= (p.Ala906=) c.1900G= (p.Ala634=) c.1807G= (p.Ala603=) | |
| 14 | g.67782927C>G | CA390170522 | ZFYVE26 | c.4225G>C (p.Ala1409Pro) n.4362G>C c.*2350+172G>C (n.*2350+172G>C) c.2716G>C (p.Ala906Pro) c.1900G>C (p.Ala634Pro) c.1807G>C (p.Ala603Pro) | |
| 14 | g.67782927C>T | CA390170523 | ZFYVE26 | c.4225G>A (p.Ala1409Thr) n.4362G>A c.*2350+172G>A (n.*2350+172G>A) c.2716G>A (p.Ala906Thr) c.1900G>A (p.Ala634Thr) c.1807G>A (p.Ala603Thr) | |
| 14 | g.67782928A>C | CA390170524 | ZFYVE26 | c.4224T>G (p.Ile1408Met) n.4361T>G c.*2350+171T>G (n.*2350+171T>G) c.2715T>G (p.Ile905Met) c.1899T>G (p.Ile633Met) c.1806T>G (p.Ile602Met) | |
| 14 | g.67782928A>G | CA486970671 | ZFYVE26 | c.4224T>C (p.Ile1408=) n.4361T>C c.*2350+171T>C (n.*2350+171T>C) c.2715T>C (p.Ile905=) c.1899T>C (p.Ile633=) c.1806T>C (p.Ile602=) | |
| 14 | g.67782928A>T | CA486970672 | ZFYVE26 | c.4224T>A (p.Ile1408=) n.4361T>A c.*2350+171T>A (n.*2350+171T>A) c.2715T>A (p.Ile905=) c.1899T>A (p.Ile633=) c.1806T>A (p.Ile602=) | |
| 14 | g.67782929A= | CA2144027687 | ZFYVE26 | c.4223T= (p.Ile1408=) n.4360T= c.*2350+170T= (n.*2350+170T=) c.2714T= (p.Ile905=) c.1898T= (p.Ile633=) c.1805T= (p.Ile602=) | |
| 14 | g.67782929A>C | CA390170526 | ZFYVE26 | c.4223T>G (p.Ile1408Ser) n.4360T>G c.*2350+170T>G (n.*2350+170T>G) c.2714T>G (p.Ile905Ser) c.1898T>G (p.Ile633Ser) c.1805T>G (p.Ile602Ser) | |
| 14 | g.67782929A>G | CA390170528 | ZFYVE26 | c.4223T>C (p.Ile1408Thr) n.4360T>C c.*2350+170T>C (n.*2350+170T>C) c.2714T>C (p.Ile905Thr) c.1898T>C (p.Ile633Thr) c.1805T>C (p.Ile602Thr) | dbSNP gnomAD v4 |
| 14 | g.67782929A>T | CA390170530 | ZFYVE26 | c.4223T>A (p.Ile1408Asn) n.4360T>A c.*2350+170T>A (n.*2350+170T>A) c.2714T>A (p.Ile905Asn) c.1898T>A (p.Ile633Asn) c.1805T>A (p.Ile602Asn) | |
| 14 | g.67782930T>A | CA390170532 | ZFYVE26 | c.4222A>T (p.Ile1408Phe) n.4359A>T c.*2350+169A>T (n.*2350+169A>T) c.2713A>T (p.Ile905Phe) c.1897A>T (p.Ile633Phe) c.1804A>T (p.Ile602Phe) | |
| 14 | g.67782930T>C | CA390170534 | ZFYVE26 | c.4222A>G (p.Ile1408Val) n.4359A>G c.*2350+169A>G (n.*2350+169A>G) c.2713A>G (p.Ile905Val) c.1897A>G (p.Ile633Val) c.1804A>G (p.Ile602Val) | COSMIC |
| 14 | g.67782930T>G | CA390170536 | ZFYVE26 | c.4222A>C (p.Ile1408Leu) n.4359A>C c.*2350+169A>C (n.*2350+169A>C) c.2713A>C (p.Ile905Leu) c.1897A>C (p.Ile633Leu) c.1804A>C (p.Ile602Leu) | |
| 14 | g.67782930_67782931delinsTG | CA2144027688 | ZFYVE26 | c.4221_4222delinsCA (p.Pro1407=) n.4358_4359delinsCA c.*2350+168_*2350+169delinsCA (n.*2350+168_*2350+169delinsCA) c.2712_2713delinsCA (p.Pro904=) c.1896_1897delinsCA (p.Pro632=) c.1803_1804delinsCA (p.Pro601=) | |
| 14 | g.67782931G>A | CA486970674 | ZFYVE26 | c.4221C>T (p.Pro1407=) n.4358C>T c.*2350+168C>T (n.*2350+168C>T) c.2712C>T (p.Pro904=) c.1896C>T (p.Pro632=) c.1803C>T (p.Pro601=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782931G>C | CA486970675 | ZFYVE26 | c.4221C>G (p.Pro1407=) n.4358C>G c.*2350+168C>G (n.*2350+168C>G) c.2712C>G (p.Pro904=) c.1896C>G (p.Pro632=) c.1803C>G (p.Pro601=) | |
| 14 | g.67782931G>T | CA486970677 | ZFYVE26 | c.4221C>A (p.Pro1407=) n.4358C>A c.*2350+168C>A (n.*2350+168C>A) c.2712C>A (p.Pro904=) c.1896C>A (p.Pro632=) c.1803C>A (p.Pro601=) | |
| 14 | g.67782933del | CA919441778 | ZFYVE26 | c.4221del (p.Ile1408LeufsTer3) n.4358del c.*2350+168del (n.*2350+168del) c.2712del (p.Ile905LeufsTer3) c.1896del (p.Ile633LeufsTer3) c.1803del (p.Ile602LeufsTer3) | dbSNP |
| 14 | g.67782932G>A | CA390170541 | ZFYVE26 | c.4220C>T (p.Pro1407Leu) n.4357C>T c.*2350+167C>T (n.*2350+167C>T) c.2711C>T (p.Pro904Leu) c.1895C>T (p.Pro632Leu) c.1802C>T (p.Pro601Leu) | |
| 14 | g.67782932G>C | CA390170538 | ZFYVE26 | c.4220C>G (p.Pro1407Arg) n.4357C>G c.*2350+167C>G (n.*2350+167C>G) c.2711C>G (p.Pro904Arg) c.1895C>G (p.Pro632Arg) c.1802C>G (p.Pro601Arg) | COSMIC |
| 14 | g.67782932G>T | CA390170540 | ZFYVE26 | c.4220C>A (p.Pro1407His) n.4357C>A c.*2350+167C>A (n.*2350+167C>A) c.2711C>A (p.Pro904His) c.1895C>A (p.Pro632His) c.1802C>A (p.Pro601His) | |
| 14 | g.67782933G>A | CA390170544 | ZFYVE26 | c.4219C>T (p.Pro1407Ser) n.4356C>T c.*2350+166C>T (n.*2350+166C>T) c.2710C>T (p.Pro904Ser) c.1894C>T (p.Pro632Ser) c.1801C>T (p.Pro601Ser) | COSMIC |
| 14 | g.67782933G>C | CA390170545 | ZFYVE26 | c.4219C>G (p.Pro1407Ala) n.4356C>G c.*2350+166C>G (n.*2350+166C>G) c.2710C>G (p.Pro904Ala) c.1894C>G (p.Pro632Ala) c.1801C>G (p.Pro601Ala) | |
| 14 | g.67782933G>T | CA390170547 | ZFYVE26 | c.4219C>A (p.Pro1407Thr) n.4356C>A c.*2350+166C>A (n.*2350+166C>A) c.2710C>A (p.Pro904Thr) c.1894C>A (p.Pro632Thr) c.1801C>A (p.Pro601Thr) | |
| 14 | g.67782934A>C | CA486970681 | ZFYVE26 | c.4218T>G (p.Ser1406=) n.4355T>G c.*2350+165T>G (n.*2350+165T>G) c.2709T>G (p.Ser903=) c.1893T>G (p.Ser631=) c.1800T>G (p.Ser600=) | |
| 14 | g.67782934A>G | CA486970683 | ZFYVE26 | c.4218T>C (p.Ser1406=) n.4355T>C c.*2350+165T>C (n.*2350+165T>C) c.2709T>C (p.Ser903=) c.1893T>C (p.Ser631=) c.1800T>C (p.Ser600=) | |
| 14 | g.67782934A>T | CA486970685 | ZFYVE26 | c.4218T>A (p.Ser1406=) n.4355T>A c.*2350+165T>A (n.*2350+165T>A) c.2709T>A (p.Ser903=) c.1893T>A (p.Ser631=) c.1800T>A (p.Ser600=) | |
| 14 | g.67782935G>A | CA390170549 | ZFYVE26 | c.4217C>T (p.Ser1406Phe) n.4354C>T c.*2350+164C>T (n.*2350+164C>T) c.2708C>T (p.Ser903Phe) c.1892C>T (p.Ser631Phe) c.1799C>T (p.Ser600Phe) | |
| 14 | g.67782935G>C | CA390170551 | ZFYVE26 | c.4217C>G (p.Ser1406Cys) n.4354C>G c.*2350+164C>G (n.*2350+164C>G) c.2708C>G (p.Ser903Cys) c.1892C>G (p.Ser631Cys) c.1799C>G (p.Ser600Cys) | gnomAD v4 |
| 14 | g.67782935G>T | CA390170553 | ZFYVE26 | c.4217C>A (p.Ser1406Tyr) n.4354C>A c.*2350+164C>A (n.*2350+164C>A) c.2708C>A (p.Ser903Tyr) c.1892C>A (p.Ser631Tyr) c.1799C>A (p.Ser600Tyr) | |
| 14 | g.67782936A>C | CA390170554 | ZFYVE26 | c.4216T>G (p.Ser1406Ala) n.4353T>G c.*2350+163T>G (n.*2350+163T>G) c.2707T>G (p.Ser903Ala) c.1891T>G (p.Ser631Ala) c.1798T>G (p.Ser600Ala) | |
| 14 | g.67782936A>G | CA390170555 | ZFYVE26 | c.4216T>C (p.Ser1406Pro) n.4353T>C c.*2350+163T>C (n.*2350+163T>C) c.2707T>C (p.Ser903Pro) c.1891T>C (p.Ser631Pro) c.1798T>C (p.Ser600Pro) | |
| 14 | g.67782936A>T | CA390170557 | ZFYVE26 | c.4216T>A (p.Ser1406Thr) n.4353T>A c.*2350+163T>A (n.*2350+163T>A) c.2707T>A (p.Ser903Thr) c.1891T>A (p.Ser631Thr) c.1798T>A (p.Ser600Thr) | |
| 14 | g.67782937A= | CA2144027689 | ZFYVE26 | c.4215T= (p.His1405=) n.4352T= c.*2350+162T= (n.*2350+162T=) c.2706T= (p.His902=) c.1890T= (p.His630=) c.1797T= (p.His599=) | |
| 14 | g.67782937A>C | CA390170559 | ZFYVE26 | c.4215T>G (p.His1405Gln) n.4352T>G c.*2350+162T>G (n.*2350+162T>G) c.2706T>G (p.His902Gln) c.1890T>G (p.His630Gln) c.1797T>G (p.His599Gln) | |
| 14 | g.67782937A>G | CA486970690 | ZFYVE26 | c.4215T>C (p.His1405=) n.4352T>C c.*2350+162T>C (n.*2350+162T>C) c.2706T>C (p.His902=) c.1890T>C (p.His630=) c.1797T>C (p.His599=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782937A>T | CA390170560 | ZFYVE26 | c.4215T>A (p.His1405Gln) n.4352T>A c.*2350+162T>A (n.*2350+162T>A) c.2706T>A (p.His902Gln) c.1890T>A (p.His630Gln) c.1797T>A (p.His599Gln) | |
| 14 | g.67782938T>A | CA390170567 | ZFYVE26 | c.4214A>T (p.His1405Leu) n.4351A>T c.*2350+161A>T (n.*2350+161A>T) c.2705A>T (p.His902Leu) c.1889A>T (p.His630Leu) c.1796A>T (p.His599Leu) | gnomAD v4 |
| 14 | g.67782938T>C | CA390170565 | ZFYVE26 | c.4214A>G (p.His1405Arg) n.4351A>G c.*2350+161A>G (n.*2350+161A>G) c.2705A>G (p.His902Arg) c.1889A>G (p.His630Arg) c.1796A>G (p.His599Arg) | gnomAD v4 COSMIC |
| 14 | g.67782938T>G | CA390170563 | ZFYVE26 | c.4214A>C (p.His1405Pro) n.4351A>C c.*2350+161A>C (n.*2350+161A>C) c.2705A>C (p.His902Pro) c.1889A>C (p.His630Pro) c.1796A>C (p.His599Pro) | |
| 14 | g.67782939G>A | CA390170569 | ZFYVE26 | c.4213C>T (p.His1405Tyr) n.4350C>T c.*2350+160C>T (n.*2350+160C>T) c.2704C>T (p.His902Tyr) c.1888C>T (p.His630Tyr) c.1795C>T (p.His599Tyr) | gnomAD v4 |
| 14 | g.67782939G>C | CA390170571 | ZFYVE26 | c.4213C>G (p.His1405Asp) n.4350C>G c.*2350+160C>G (n.*2350+160C>G) c.2704C>G (p.His902Asp) c.1888C>G (p.His630Asp) c.1795C>G (p.His599Asp) | |
| 14 | g.67782939G>T | CA390170572 | ZFYVE26 | c.4213C>A (p.His1405Asn) n.4350C>A c.*2350+160C>A (n.*2350+160C>A) c.2704C>A (p.His902Asn) c.1888C>A (p.His630Asn) c.1795C>A (p.His599Asn) | |
| 14 | g.67782940T>A | CA7239819 | ZFYVE26 | c.4212A>T (p.Leu1404=) n.4349A>T c.*2350+159A>T (n.*2350+159A>T) c.2703A>T (p.Leu901=) c.1887A>T (p.Leu629=) c.1794A>T (p.Leu598=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782940T>C | CA486970691 | ZFYVE26 | c.4212A>G (p.Leu1404=) n.4349A>G c.*2350+159A>G (n.*2350+159A>G) c.2703A>G (p.Leu901=) c.1887A>G (p.Leu629=) c.1794A>G (p.Leu598=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782940T>G | CA486970692 | ZFYVE26 | c.4212A>C (p.Leu1404=) n.4349A>C c.*2350+159A>C (n.*2350+159A>C) c.2703A>C (p.Leu901=) c.1887A>C (p.Leu629=) c.1794A>C (p.Leu598=) | |
| 14 | g.67782940T= | CA2144027690 | ZFYVE26 | c.4212A= (p.Leu1404=) n.4349A= c.*2350+159A= (n.*2350+159A=) c.2703A= (p.Leu901=) c.1887A= (p.Leu629=) c.1794A= (p.Leu598=) |