| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 14 | g.67782941A= | CA2144027691 | ZFYVE26 | c.4211T= (p.Leu1404=) n.4348T= c.*2350+158T= (n.*2350+158T=) c.2702T= (p.Leu901=) c.1886T= (p.Leu629=) c.1793T= (p.Leu598=) | |
| 14 | g.67782941A>C | CA390170576 | ZFYVE26 | c.4211T>G (p.Leu1404Arg) n.4348T>G c.*2350+158T>G (n.*2350+158T>G) c.2702T>G (p.Leu901Arg) c.1886T>G (p.Leu629Arg) c.1793T>G (p.Leu598Arg) | |
| 14 | g.67782941A>G | CA390170577 | ZFYVE26 | c.4211T>C (p.Leu1404Pro) n.4348T>C c.*2350+158T>C (n.*2350+158T>C) c.2702T>C (p.Leu901Pro) c.1886T>C (p.Leu629Pro) c.1793T>C (p.Leu598Pro) | dbSNP |
| 14 | g.67782941A>T | CA390170580 | ZFYVE26 | c.4211T>A (p.Leu1404Gln) n.4348T>A c.*2350+158T>A (n.*2350+158T>A) c.2702T>A (p.Leu901Gln) c.1886T>A (p.Leu629Gln) c.1793T>A (p.Leu598Gln) | |
| 14 | g.67782942G>A | CA486970693 | ZFYVE26 | c.4210C>T (p.Leu1404=) n.4347C>T c.*2350+157C>T (n.*2350+157C>T) c.2701C>T (p.Leu901=) c.1885C>T (p.Leu629=) c.1792C>T (p.Leu598=) | |
| 14 | g.67782942G>C | CA390170582 | ZFYVE26 | c.4210C>G (p.Leu1404Val) n.4347C>G c.*2350+157C>G (n.*2350+157C>G) c.2701C>G (p.Leu901Val) c.1885C>G (p.Leu629Val) c.1792C>G (p.Leu598Val) | |
| 14 | g.67782942G>T | CA390170584 | ZFYVE26 | c.4210C>A (p.Leu1404Ile) n.4347C>A c.*2350+157C>A (n.*2350+157C>A) c.2701C>A (p.Leu901Ile) c.1885C>A (p.Leu629Ile) c.1792C>A (p.Leu598Ile) | |
| 14 | g.67782943G>A | CA486970695 | ZFYVE26 | c.4209C>T (p.Gly1403=) n.4346C>T c.*2350+156C>T (n.*2350+156C>T) c.2700C>T (p.Gly900=) c.1884C>T (p.Gly628=) c.1791C>T (p.Gly597=) | |
| 14 | g.67782943G>C | CA486970696 | ZFYVE26 | c.4209C>G (p.Gly1403=) n.4346C>G c.*2350+156C>G (n.*2350+156C>G) c.2700C>G (p.Gly900=) c.1884C>G (p.Gly628=) c.1791C>G (p.Gly597=) | |
| 14 | g.67782943G>T | CA486970697 | ZFYVE26 | c.4209C>A (p.Gly1403=) n.4346C>A c.*2350+156C>A (n.*2350+156C>A) c.2700C>A (p.Gly900=) c.1884C>A (p.Gly628=) c.1791C>A (p.Gly597=) | |
| 14 | g.67782944C>A | CA390170586 | ZFYVE26 | c.4208G>T (p.Gly1403Val) n.4345G>T c.*2350+155G>T (n.*2350+155G>T) c.2699G>T (p.Gly900Val) c.1883G>T (p.Gly628Val) c.1790G>T (p.Gly597Val) | |
| 14 | g.67782944C>G | CA390170587 | ZFYVE26 | c.4208G>C (p.Gly1403Ala) n.4345G>C c.*2350+155G>C (n.*2350+155G>C) c.2699G>C (p.Gly900Ala) c.1883G>C (p.Gly628Ala) c.1790G>C (p.Gly597Ala) | |
| 14 | g.67782944C>T | CA390170589 | ZFYVE26 | c.4208G>A (p.Gly1403Asp) n.4345G>A c.*2350+155G>A (n.*2350+155G>A) c.2699G>A (p.Gly900Asp) c.1883G>A (p.Gly628Asp) c.1790G>A (p.Gly597Asp) | |
| 14 | g.67782945C>A | CA390170593 | ZFYVE26 | c.4207G>T (p.Gly1403Cys) n.4344G>T c.*2350+154G>T (n.*2350+154G>T) c.2698G>T (p.Gly900Cys) c.1882G>T (p.Gly628Cys) c.1789G>T (p.Gly597Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782945C= | CA2144027692 | ZFYVE26 | c.4207G= (p.Gly1403=) n.4344G= c.*2350+154G= (n.*2350+154G=) c.2698G= (p.Gly900=) c.1882G= (p.Gly628=) c.1789G= (p.Gly597=) | |
| 14 | g.67782945C>G | CA390170594 | ZFYVE26 | c.4207G>C (p.Gly1403Arg) n.4344G>C c.*2350+154G>C (n.*2350+154G>C) c.2698G>C (p.Gly900Arg) c.1882G>C (p.Gly628Arg) c.1789G>C (p.Gly597Arg) | |
| 14 | g.67782945C>T | CA390170591 | ZFYVE26 | c.4207G>A (p.Gly1403Ser) n.4344G>A c.*2350+154G>A (n.*2350+154G>A) c.2698G>A (p.Gly900Ser) c.1882G>A (p.Gly628Ser) c.1789G>A (p.Gly597Ser) | |
| 14 | g.67782946C>A | CA486970699 | ZFYVE26 | c.4206G>T (p.Leu1402=) n.4343G>T c.*2350+153G>T (n.*2350+153G>T) c.2697G>T (p.Leu899=) c.1881G>T (p.Leu627=) c.1788G>T (p.Leu596=) | |
| 14 | g.67782946C= | CA2144027693 | ZFYVE26 | c.4206G= (p.Leu1402=) n.4343G= c.*2350+153G= (n.*2350+153G=) c.2697G= (p.Leu899=) c.1881G= (p.Leu627=) c.1788G= (p.Leu596=) | |
| 14 | g.67782946C>G | CA486970701 | ZFYVE26 | c.4206G>C (p.Leu1402=) n.4343G>C c.*2350+153G>C (n.*2350+153G>C) c.2697G>C (p.Leu899=) c.1881G>C (p.Leu627=) c.1788G>C (p.Leu596=) | |
| 14 | g.67782946C>T | CA486970702 | ZFYVE26 | c.4206G>A (p.Leu1402=) n.4343G>A c.*2350+153G>A (n.*2350+153G>A) c.2697G>A (p.Leu899=) c.1881G>A (p.Leu627=) c.1788G>A (p.Leu596=) | dbSNP |
| 14 | g.67782947A= | CA2144027694 | ZFYVE26 | c.4205T= (p.Leu1402=) n.4342T= c.*2350+152T= (n.*2350+152T=) c.2696T= (p.Leu899=) c.1880T= (p.Leu627=) c.1787T= (p.Leu596=) | |
| 14 | g.67782947A>C | CA390170595 | ZFYVE26 | c.4205T>G (p.Leu1402Arg) n.4342T>G c.*2350+152T>G (n.*2350+152T>G) c.2696T>G (p.Leu899Arg) c.1880T>G (p.Leu627Arg) c.1787T>G (p.Leu596Arg) | |
| 14 | g.67782947A>G | CA390170596 | ZFYVE26 | c.4205T>C (p.Leu1402Pro) n.4342T>C c.*2350+152T>C (n.*2350+152T>C) c.2696T>C (p.Leu899Pro) c.1880T>C (p.Leu627Pro) c.1787T>C (p.Leu596Pro) | dbSNP gnomAD v4 |
| 14 | g.67782947A>T | CA390170597 | ZFYVE26 | c.4205T>A (p.Leu1402Gln) n.4342T>A c.*2350+152T>A (n.*2350+152T>A) c.2696T>A (p.Leu899Gln) c.1880T>A (p.Leu627Gln) c.1787T>A (p.Leu596Gln) | |
| 14 | g.67782948G>A | CA486970703 | ZFYVE26 | c.4204C>T (p.Leu1402=) n.4341C>T c.*2350+151C>T (n.*2350+151C>T) c.2695C>T (p.Leu899=) c.1879C>T (p.Leu627=) c.1786C>T (p.Leu596=) | |
| 14 | g.67782948G>C | CA390170599 | ZFYVE26 | c.4204C>G (p.Leu1402Val) n.4341C>G c.*2350+151C>G (n.*2350+151C>G) c.2695C>G (p.Leu899Val) c.1879C>G (p.Leu627Val) c.1786C>G (p.Leu596Val) | |
| 14 | g.67782948G>T | CA390170600 | ZFYVE26 | c.4204C>A (p.Leu1402Met) n.4341C>A c.*2350+151C>A (n.*2350+151C>A) c.2695C>A (p.Leu899Met) c.1879C>A (p.Leu627Met) c.1786C>A (p.Leu596Met) | |
| 14 | g.67782949G>A | CA262848639 | ZFYVE26 | c.4203C>T (p.Leu1401=) n.4340C>T c.*2350+150C>T (n.*2350+150C>T) c.2694C>T (p.Leu898=) c.1878C>T (p.Leu626=) c.1785C>T (p.Leu595=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782949G>C | CA486970708 | ZFYVE26 | c.4203C>G (p.Leu1401=) n.4340C>G c.*2350+150C>G (n.*2350+150C>G) c.2694C>G (p.Leu898=) c.1878C>G (p.Leu626=) c.1785C>G (p.Leu595=) | |
| 14 | g.67782949G= | CA2144027695 | ZFYVE26 | c.4203C= (p.Leu1401=) n.4340C= c.*2350+150C= (n.*2350+150C=) c.2694C= (p.Leu898=) c.1878C= (p.Leu626=) c.1785C= (p.Leu595=) | |
| 14 | g.67782949G>T | CA486970707 | ZFYVE26 | c.4203C>A (p.Leu1401=) n.4340C>A c.*2350+150C>A (n.*2350+150C>A) c.2694C>A (p.Leu898=) c.1878C>A (p.Leu626=) c.1785C>A (p.Leu595=) | |
| 14 | g.67782950A>C | CA390170607 | ZFYVE26 | c.4202T>G (p.Leu1401Arg) n.4339T>G c.*2350+149T>G (n.*2350+149T>G) c.2693T>G (p.Leu898Arg) c.1877T>G (p.Leu626Arg) c.1784T>G (p.Leu595Arg) | gnomAD v4 |
| 14 | g.67782950A>G | CA390170602 | ZFYVE26 | c.4202T>C (p.Leu1401Pro) n.4339T>C c.*2350+149T>C (n.*2350+149T>C) c.2693T>C (p.Leu898Pro) c.1877T>C (p.Leu626Pro) c.1784T>C (p.Leu595Pro) | |
| 14 | g.67782950A>T | CA390170604 | ZFYVE26 | c.4202T>A (p.Leu1401His) n.4339T>A c.*2350+149T>A (n.*2350+149T>A) c.2693T>A (p.Leu898His) c.1877T>A (p.Leu626His) c.1784T>A (p.Leu595His) | |
| 14 | g.67782951G>A | CA390170608 | ZFYVE26 | c.4201C>T (p.Leu1401Phe) n.4338C>T c.*2350+148C>T (n.*2350+148C>T) c.2692C>T (p.Leu898Phe) c.1876C>T (p.Leu626Phe) c.1783C>T (p.Leu595Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782951G>C | CA390170610 | ZFYVE26 | c.4201C>G (p.Leu1401Val) n.4338C>G c.*2350+148C>G (n.*2350+148C>G) c.2692C>G (p.Leu898Val) c.1876C>G (p.Leu626Val) c.1783C>G (p.Leu595Val) | gnomAD v4 |
| 14 | g.67782951G= | CA2144027696 | ZFYVE26 | c.4201C= (p.Leu1401=) n.4338C= c.*2350+148C= (n.*2350+148C=) c.2692C= (p.Leu898=) c.1876C= (p.Leu626=) c.1783C= (p.Leu595=) | |
| 14 | g.67782951G>T | CA390170612 | ZFYVE26 | c.4201C>A (p.Leu1401Ile) n.4338C>A c.*2350+148C>A (n.*2350+148C>A) c.2692C>A (p.Leu898Ile) c.1876C>A (p.Leu626Ile) c.1783C>A (p.Leu595Ile) | |
| 14 | g.67782952A>C | CA486970713 | ZFYVE26 | c.4200T>G (p.Val1400=) n.4337T>G c.*2350+147T>G (n.*2350+147T>G) c.2691T>G (p.Val897=) c.1875T>G (p.Val625=) c.1782T>G (p.Val594=) | |
| 14 | g.67782952A>G | CA486970714 | ZFYVE26 | c.4200T>C (p.Val1400=) n.4337T>C c.*2350+147T>C (n.*2350+147T>C) c.2691T>C (p.Val897=) c.1875T>C (p.Val625=) c.1782T>C (p.Val594=) | gnomAD v4 |
| 14 | g.67782952A>T | CA486970715 | ZFYVE26 | c.4200T>A (p.Val1400=) n.4337T>A c.*2350+147T>A (n.*2350+147T>A) c.2691T>A (p.Val897=) c.1875T>A (p.Val625=) c.1782T>A (p.Val594=) | |
| 14 | g.67782953A>C | CA390170613 | ZFYVE26 | c.4199T>G (p.Val1400Gly) n.4336T>G c.*2350+146T>G (n.*2350+146T>G) c.2690T>G (p.Val897Gly) c.1874T>G (p.Val625Gly) c.1781T>G (p.Val594Gly) | |
| 14 | g.67782953A>G | CA390170614 | ZFYVE26 | c.4199T>C (p.Val1400Ala) n.4336T>C c.*2350+146T>C (n.*2350+146T>C) c.2690T>C (p.Val897Ala) c.1874T>C (p.Val625Ala) c.1781T>C (p.Val594Ala) | |
| 14 | g.67782953A>T | CA390170616 | ZFYVE26 | c.4199T>A (p.Val1400Asp) n.4336T>A c.*2350+146T>A (n.*2350+146T>A) c.2690T>A (p.Val897Asp) c.1874T>A (p.Val625Asp) c.1781T>A (p.Val594Asp) | |
| 14 | g.67782954C>A | CA390170620 | ZFYVE26 | c.4198G>T (p.Val1400Phe) n.4335G>T c.*2350+145G>T (n.*2350+145G>T) c.2689G>T (p.Val897Phe) c.1873G>T (p.Val625Phe) c.1780G>T (p.Val594Phe) | dbSNP gnomAD v4 |
| 14 | g.67782954C= | CA2144027697 | ZFYVE26 | c.4198G= (p.Val1400=) n.4335G= c.*2350+145G= (n.*2350+145G=) c.2689G= (p.Val897=) c.1873G= (p.Val625=) c.1780G= (p.Val594=) | |
| 14 | g.67782954C>G | CA390170622 | ZFYVE26 | c.4198G>C (p.Val1400Leu) n.4335G>C c.*2350+145G>C (n.*2350+145G>C) c.2689G>C (p.Val897Leu) c.1873G>C (p.Val625Leu) c.1780G>C (p.Val594Leu) | |
| 14 | g.67782954C>T | CA7239820 | ZFYVE26 | c.4198G>A (p.Val1400Ile) n.4335G>A c.*2350+145G>A (n.*2350+145G>A) c.2689G>A (p.Val897Ile) c.1873G>A (p.Val625Ile) c.1780G>A (p.Val594Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782955G>A | CA206139 | ZFYVE26 | c.4197C>T (p.Thr1399=) n.4334C>T c.*2350+144C>T (n.*2350+144C>T) c.2688C>T (p.Thr896=) c.1872C>T (p.Thr624=) c.1779C>T (p.Thr593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782955G>C | CA486970720 | ZFYVE26 | c.4197C>G (p.Thr1399=) n.4334C>G c.*2350+144C>G (n.*2350+144C>G) c.2688C>G (p.Thr896=) c.1872C>G (p.Thr624=) c.1779C>G (p.Thr593=) | |
| 14 | g.67782955G= | CA2144027698 | ZFYVE26 | c.4197C= (p.Thr1399=) n.4334C= c.*2350+144C= (n.*2350+144C=) c.2688C= (p.Thr896=) c.1872C= (p.Thr624=) c.1779C= (p.Thr593=) | |
| 14 | g.67782955G>T | CA7239821 | ZFYVE26 | c.4197C>A (p.Thr1399=) n.4334C>A c.*2350+144C>A (n.*2350+144C>A) c.2688C>A (p.Thr896=) c.1872C>A (p.Thr624=) c.1779C>A (p.Thr593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.67782956G>A | CA390170631 | ZFYVE26 | c.4196C>T (p.Thr1399Ile) n.4333C>T c.*2350+143C>T (n.*2350+143C>T) c.2687C>T (p.Thr896Ile) c.1871C>T (p.Thr624Ile) c.1778C>T (p.Thr593Ile) | |
| 14 | g.67782956G>C | CA390170635 | ZFYVE26 | c.4196C>G (p.Thr1399Ser) n.4333C>G c.*2350+143C>G (n.*2350+143C>G) c.2687C>G (p.Thr896Ser) c.1871C>G (p.Thr624Ser) c.1778C>G (p.Thr593Ser) | |
| 14 | g.67782956G>T | CA390170633 | ZFYVE26 | c.4196C>A (p.Thr1399Asn) n.4333C>A c.*2350+143C>A (n.*2350+143C>A) c.2687C>A (p.Thr896Asn) c.1871C>A (p.Thr624Asn) c.1778C>A (p.Thr593Asn) | |
| 14 | g.67782957T>A | CA390170637 | ZFYVE26 | c.4195A>T (p.Thr1399Ser) n.4332A>T c.*2350+142A>T (n.*2350+142A>T) c.2686A>T (p.Thr896Ser) c.1870A>T (p.Thr624Ser) c.1777A>T (p.Thr593Ser) | |
| 14 | g.67782957T>C | CA390170642 | ZFYVE26 | c.4195A>G (p.Thr1399Ala) n.4332A>G c.*2350+142A>G (n.*2350+142A>G) c.2686A>G (p.Thr896Ala) c.1870A>G (p.Thr624Ala) c.1777A>G (p.Thr593Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782957T>G | CA390170640 | ZFYVE26 | c.4195A>C (p.Thr1399Pro) n.4332A>C c.*2350+142A>C (n.*2350+142A>C) c.2686A>C (p.Thr896Pro) c.1870A>C (p.Thr624Pro) c.1777A>C (p.Thr593Pro) | |
| 14 | g.67782957T= | CA2144027699 | ZFYVE26 | c.4195A= (p.Thr1399=) n.4332A= c.*2350+142A= (n.*2350+142A=) c.2686A= (p.Thr896=) c.1870A= (p.Thr624=) c.1777A= (p.Thr593=) | |
| 14 | g.67782958A>C | CA486970721 | ZFYVE26 | c.4194T>G (p.Ser1398=) n.4331T>G c.*2350+141T>G (n.*2350+141T>G) c.2685T>G (p.Ser895=) c.1869T>G (p.Ser623=) c.1776T>G (p.Ser592=) | |
| 14 | g.67782958A>G | CA486970722 | ZFYVE26 | c.4194T>C (p.Ser1398=) n.4331T>C c.*2350+141T>C (n.*2350+141T>C) c.2685T>C (p.Ser895=) c.1869T>C (p.Ser623=) c.1776T>C (p.Ser592=) | |
| 14 | g.67782958A>T | CA486970723 | ZFYVE26 | c.4194T>A (p.Ser1398=) n.4331T>A c.*2350+141T>A (n.*2350+141T>A) c.2685T>A (p.Ser895=) c.1869T>A (p.Ser623=) c.1776T>A (p.Ser592=) | |
| 14 | g.67782959G>A | CA390170643 | ZFYVE26 | c.4193C>T (p.Ser1398Phe) n.4330C>T c.*2350+140C>T (n.*2350+140C>T) c.2684C>T (p.Ser895Phe) c.1868C>T (p.Ser623Phe) c.1775C>T (p.Ser592Phe) | |
| 14 | g.67782959G>C | CA390170644 | ZFYVE26 | c.4193C>G (p.Ser1398Cys) n.4330C>G c.*2350+140C>G (n.*2350+140C>G) c.2684C>G (p.Ser895Cys) c.1868C>G (p.Ser623Cys) c.1775C>G (p.Ser592Cys) | |
| 14 | g.67782959G>T | CA390170645 | ZFYVE26 | c.4193C>A (p.Ser1398Tyr) n.4330C>A c.*2350+140C>A (n.*2350+140C>A) c.2684C>A (p.Ser895Tyr) c.1868C>A (p.Ser623Tyr) c.1775C>A (p.Ser592Tyr) | |
| 14 | g.67782960A>C | CA390170646 | ZFYVE26 | c.4192T>G (p.Ser1398Ala) n.4329T>G c.*2350+139T>G (n.*2350+139T>G) c.2683T>G (p.Ser895Ala) c.1867T>G (p.Ser623Ala) c.1774T>G (p.Ser592Ala) | |
| 14 | g.67782960A>G | CA390170647 | ZFYVE26 | c.4192T>C (p.Ser1398Pro) n.4329T>C c.*2350+139T>C (n.*2350+139T>C) c.2683T>C (p.Ser895Pro) c.1867T>C (p.Ser623Pro) c.1774T>C (p.Ser592Pro) | |
| 14 | g.67782960A>T | CA390170648 | ZFYVE26 | c.4192T>A (p.Ser1398Thr) n.4329T>A c.*2350+139T>A (n.*2350+139T>A) c.2683T>A (p.Ser895Thr) c.1867T>A (p.Ser623Thr) c.1774T>A (p.Ser592Thr) | |
| 14 | g.67782961A>C | CA486970724 | ZFYVE26 | c.4191T>G (p.Leu1397=) n.4328T>G c.*2350+138T>G (n.*2350+138T>G) c.2682T>G (p.Leu894=) c.1866T>G (p.Leu622=) c.1773T>G (p.Leu591=) | gnomAD v4 |
| 14 | g.67782961A>G | CA486970725 | ZFYVE26 | c.4191T>C (p.Leu1397=) n.4328T>C c.*2350+138T>C (n.*2350+138T>C) c.2682T>C (p.Leu894=) c.1866T>C (p.Leu622=) c.1773T>C (p.Leu591=) | |
| 14 | g.67782961A>T | CA486970726 | ZFYVE26 | c.4191T>A (p.Leu1397=) n.4328T>A c.*2350+138T>A (n.*2350+138T>A) c.2682T>A (p.Leu894=) c.1866T>A (p.Leu622=) c.1773T>A (p.Leu591=) | |
| 14 | g.67782962A>C | CA390170649 | ZFYVE26 | c.4190T>G (p.Leu1397Arg) n.4327T>G c.*2350+137T>G (n.*2350+137T>G) c.2681T>G (p.Leu894Arg) c.1865T>G (p.Leu622Arg) c.1772T>G (p.Leu591Arg) | gnomAD v4 |
| 14 | g.67782962A>G | CA390170650 | ZFYVE26 | c.4190T>C (p.Leu1397Pro) n.4327T>C c.*2350+137T>C (n.*2350+137T>C) c.2681T>C (p.Leu894Pro) c.1865T>C (p.Leu622Pro) c.1772T>C (p.Leu591Pro) | |
| 14 | g.67782962A>T | CA390170651 | ZFYVE26 | c.4190T>A (p.Leu1397His) n.4327T>A c.*2350+137T>A (n.*2350+137T>A) c.2681T>A (p.Leu894His) c.1865T>A (p.Leu622His) c.1772T>A (p.Leu591His) | |
| 14 | g.67782962_67782966delinsAGACT | CA2144027700 | ZFYVE26 | c.4186_4190delinsAGTCT (p.Ser1396=) n.4323_4327delinsAGTCT c.*2350+133_*2350+137delinsAGTCT (n.*2350+133_*2350+137delinsAGTCT) c.2677_2681delinsAGTCT (p.Ser893=) c.1861_1865delinsAGTCT (p.Ser621=) c.1768_1772delinsAGTCT (p.Ser590=) | |
| 14 | g.67782963G>A | CA390170652 | ZFYVE26 | c.4189C>T (p.Leu1397Phe) n.4326C>T c.*2350+136C>T (n.*2350+136C>T) c.2680C>T (p.Leu894Phe) c.1864C>T (p.Leu622Phe) c.1771C>T (p.Leu591Phe) | |
| 14 | g.67782963G>C | CA390170653 | ZFYVE26 | c.4189C>G (p.Leu1397Val) n.4326C>G c.*2350+136C>G (n.*2350+136C>G) c.2680C>G (p.Leu894Val) c.1864C>G (p.Leu622Val) c.1771C>G (p.Leu591Val) | |
| 14 | g.67782963G>T | CA390170654 | ZFYVE26 | c.4189C>A (p.Leu1397Ile) n.4326C>A c.*2350+136C>A (n.*2350+136C>A) c.2680C>A (p.Leu894Ile) c.1864C>A (p.Leu622Ile) c.1771C>A (p.Leu591Ile) | |
| 14 | g.67782964_67782967del | CA615188407 | ZFYVE26 | c.4186_4189del (p.Ser1396PhefsTer14) n.4323_4326del c.*2350+133_*2350+136del (n.*2350+133_*2350+136del) c.2677_2680del (p.Ser893PhefsTer14) c.1861_1864del (p.Ser621PhefsTer14) c.1768_1771del (p.Ser590PhefsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782964A>C | CA390170655 | ZFYVE26 | c.4188T>G (p.Ser1396Arg) n.4325T>G c.*2350+135T>G (n.*2350+135T>G) c.2679T>G (p.Ser893Arg) c.1863T>G (p.Ser621Arg) c.1770T>G (p.Ser590Arg) | |
| 14 | g.67782964A>G | CA486970727 | ZFYVE26 | c.4188T>C (p.Ser1396=) n.4325T>C c.*2350+135T>C (n.*2350+135T>C) c.2679T>C (p.Ser893=) c.1863T>C (p.Ser621=) c.1770T>C (p.Ser590=) | |
| 14 | g.67782964A>T | CA390170656 | ZFYVE26 | c.4188T>A (p.Ser1396Arg) n.4325T>A c.*2350+135T>A (n.*2350+135T>A) c.2679T>A (p.Ser893Arg) c.1863T>A (p.Ser621Arg) c.1770T>A (p.Ser590Arg) | |
| 14 | g.67782965C>A | CA390170657 | ZFYVE26 | c.4187G>T (p.Ser1396Ile) n.4324G>T c.*2350+134G>T (n.*2350+134G>T) c.2678G>T (p.Ser893Ile) c.1862G>T (p.Ser621Ile) c.1769G>T (p.Ser590Ile) | |
| 14 | g.67782965C>G | CA390170658 | ZFYVE26 | c.4187G>C (p.Ser1396Thr) n.4324G>C c.*2350+134G>C (n.*2350+134G>C) c.2678G>C (p.Ser893Thr) c.1862G>C (p.Ser621Thr) c.1769G>C (p.Ser590Thr) | |
| 14 | g.67782965C>T | CA390170659 | ZFYVE26 | c.4187G>A (p.Ser1396Asn) n.4324G>A c.*2350+134G>A (n.*2350+134G>A) c.2678G>A (p.Ser893Asn) c.1862G>A (p.Ser621Asn) c.1769G>A (p.Ser590Asn) | |
| 14 | g.67782966T>A | CA390170660 | ZFYVE26 | c.4186A>T (p.Ser1396Cys) n.4323A>T c.*2350+133A>T (n.*2350+133A>T) c.2677A>T (p.Ser893Cys) c.1861A>T (p.Ser621Cys) c.1768A>T (p.Ser590Cys) | |
| 14 | g.67782966T>C | CA390170661 | ZFYVE26 | c.4186A>G (p.Ser1396Gly) n.4323A>G c.*2350+133A>G (n.*2350+133A>G) c.2677A>G (p.Ser893Gly) c.1861A>G (p.Ser621Gly) c.1768A>G (p.Ser590Gly) | |
| 14 | g.67782966T>G | CA390170662 | ZFYVE26 | c.4186A>C (p.Ser1396Arg) n.4323A>C c.*2350+133A>C (n.*2350+133A>C) c.2677A>C (p.Ser893Arg) c.1861A>C (p.Ser621Arg) c.1768A>C (p.Ser590Arg) | |
| 14 | g.67782967G>A | CA486970728 | ZFYVE26 | c.4185C>T (p.Ala1395=) n.4322C>T c.*2350+132C>T (n.*2350+132C>T) c.2676C>T (p.Ala892=) c.1860C>T (p.Ala620=) c.1767C>T (p.Ala589=) | |
| 14 | g.67782967G>C | CA486970729 | ZFYVE26 | c.4185C>G (p.Ala1395=) n.4322C>G c.*2350+132C>G (n.*2350+132C>G) c.2676C>G (p.Ala892=) c.1860C>G (p.Ala620=) c.1767C>G (p.Ala589=) | |
| 14 | g.67782967G= | CA2144027701 | ZFYVE26 | c.4185C= (p.Ala1395=) n.4322C= c.*2350+132C= (n.*2350+132C=) c.2676C= (p.Ala892=) c.1860C= (p.Ala620=) c.1767C= (p.Ala589=) | |
| 14 | g.67782967G>T | CA7239822 | ZFYVE26 | c.4185C>A (p.Ala1395=) n.4322C>A c.*2350+132C>A (n.*2350+132C>A) c.2676C>A (p.Ala892=) c.1860C>A (p.Ala620=) c.1767C>A (p.Ala589=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782968G>A | CA7239823 | ZFYVE26 | c.4184C>T (p.Ala1395Val) n.4321C>T c.*2350+131C>T (n.*2350+131C>T) c.2675C>T (p.Ala892Val) c.1859C>T (p.Ala620Val) c.1766C>T (p.Ala589Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782968G>C | CA7239824 | ZFYVE26 | c.4184C>G (p.Ala1395Gly) n.4321C>G c.*2350+131C>G (n.*2350+131C>G) c.2675C>G (p.Ala892Gly) c.1859C>G (p.Ala620Gly) c.1766C>G (p.Ala589Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782968G= | CA2144027702 | ZFYVE26 | c.4184C= (p.Ala1395=) n.4321C= c.*2350+131C= (n.*2350+131C=) c.2675C= (p.Ala892=) c.1859C= (p.Ala620=) c.1766C= (p.Ala589=) | |
| 14 | g.67782968G>T | CA390170663 | ZFYVE26 | c.4184C>A (p.Ala1395Asp) n.4321C>A c.*2350+131C>A (n.*2350+131C>A) c.2675C>A (p.Ala892Asp) c.1859C>A (p.Ala620Asp) c.1766C>A (p.Ala589Asp) | |
| 14 | g.67782969C>A | CA390170666 | ZFYVE26 | c.4183G>T (p.Ala1395Ser) n.4320G>T c.*2350+130G>T (n.*2350+130G>T) c.2674G>T (p.Ala892Ser) c.1858G>T (p.Ala620Ser) c.1765G>T (p.Ala589Ser) | |
| 14 | g.67782969C>G | CA390170665 | ZFYVE26 | c.4183G>C (p.Ala1395Pro) n.4320G>C c.*2350+130G>C (n.*2350+130G>C) c.2674G>C (p.Ala892Pro) c.1858G>C (p.Ala620Pro) c.1765G>C (p.Ala589Pro) | |
| 14 | g.67782969C>T | CA390170664 | ZFYVE26 | c.4183G>A (p.Ala1395Thr) n.4320G>A c.*2350+130G>A (n.*2350+130G>A) c.2674G>A (p.Ala892Thr) c.1858G>A (p.Ala620Thr) c.1765G>A (p.Ala589Thr) | |
| 14 | g.67782970C>A | CA390170667 | ZFYVE26 | c.4182G>T (p.Trp1394Cys) n.4319G>T c.*2350+129G>T (n.*2350+129G>T) c.2673G>T (p.Trp891Cys) c.1857G>T (p.Trp619Cys) c.1764G>T (p.Trp588Cys) | |
| 14 | g.67782970C= | CA2144027703 | ZFYVE26 | c.4182G= (p.Trp1394=) n.4319G= c.*2350+129G= (n.*2350+129G=) c.2673G= (p.Trp891=) c.1857G= (p.Trp619=) c.1764G= (p.Trp588=) | |
| 14 | g.67782970C>G | CA390170668 | ZFYVE26 | c.4182G>C (p.Trp1394Cys) n.4319G>C c.*2350+129G>C (n.*2350+129G>C) c.2673G>C (p.Trp891Cys) c.1857G>C (p.Trp619Cys) c.1764G>C (p.Trp588Cys) | |
| 14 | g.67782970C>T | CA390170669 | ZFYVE26 | c.4182G>A (p.Trp1394Ter) n.4319G>A c.*2350+129G>A (n.*2350+129G>A) c.2673G>A (p.Trp891Ter) c.1857G>A (p.Trp619Ter) c.1764G>A (p.Trp588Ter) | ClinVar dbSNP |
| 14 | g.67782971C>A | CA390170670 | ZFYVE26 | c.4181G>T (p.Trp1394Leu) n.4318G>T c.*2350+128G>T (n.*2350+128G>T) c.2672G>T (p.Trp891Leu) c.1856G>T (p.Trp619Leu) c.1763G>T (p.Trp588Leu) | |
| 14 | g.67782971C= | CA2144027704 | ZFYVE26 | c.4181G= (p.Trp1394=) n.4318G= c.*2350+128G= (n.*2350+128G=) c.2672G= (p.Trp891=) c.1856G= (p.Trp619=) c.1763G= (p.Trp588=) | |
| 14 | g.67782971C>G | CA390170671 | ZFYVE26 | c.4181G>C (p.Trp1394Ser) n.4318G>C c.*2350+128G>C (n.*2350+128G>C) c.2672G>C (p.Trp891Ser) c.1856G>C (p.Trp619Ser) c.1763G>C (p.Trp588Ser) | |
| 14 | g.67782971C>T | CA250411 | ZFYVE26 | c.4181G>A (p.Trp1394Ter) n.4318G>A c.*2350+128G>A (n.*2350+128G>A) c.2672G>A (p.Trp891Ter) c.1856G>A (p.Trp619Ter) c.1763G>A (p.Trp588Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782972A>C | CA390170672 | ZFYVE26 | c.4180T>G (p.Trp1394Gly) n.4317T>G c.*2350+127T>G (n.*2350+127T>G) c.2671T>G (p.Trp891Gly) c.1855T>G (p.Trp619Gly) c.1762T>G (p.Trp588Gly) | |
| 14 | g.67782972A>G | CA390170673 | ZFYVE26 | c.4180T>C (p.Trp1394Arg) n.4317T>C c.*2350+127T>C (n.*2350+127T>C) c.2671T>C (p.Trp891Arg) c.1855T>C (p.Trp619Arg) c.1762T>C (p.Trp588Arg) | |
| 14 | g.67782972A>T | CA390170674 | ZFYVE26 | c.4180T>A (p.Trp1394Arg) n.4317T>A c.*2350+127T>A (n.*2350+127T>A) c.2671T>A (p.Trp891Arg) c.1855T>A (p.Trp619Arg) c.1762T>A (p.Trp588Arg) | |
| 14 | g.67782973A>C | CA486970730 | ZFYVE26 | c.4179T>G (p.Gly1393=) n.4316T>G c.*2350+126T>G (n.*2350+126T>G) c.2670T>G (p.Gly890=) c.1854T>G (p.Gly618=) c.1761T>G (p.Gly587=) | |
| 14 | g.67782973A>G | CA486970731 | ZFYVE26 | c.4179T>C (p.Gly1393=) n.4316T>C c.*2350+126T>C (n.*2350+126T>C) c.2670T>C (p.Gly890=) c.1854T>C (p.Gly618=) c.1761T>C (p.Gly587=) | |
| 14 | g.67782973A>T | CA486970732 | ZFYVE26 | c.4179T>A (p.Gly1393=) n.4316T>A c.*2350+126T>A (n.*2350+126T>A) c.2670T>A (p.Gly890=) c.1854T>A (p.Gly618=) c.1761T>A (p.Gly587=) | |
| 14 | g.67782974C>A | CA390170675 | ZFYVE26 | c.4178G>T (p.Gly1393Val) n.4315G>T c.*2350+125G>T (n.*2350+125G>T) c.2669G>T (p.Gly890Val) c.1853G>T (p.Gly618Val) c.1760G>T (p.Gly587Val) | |
| 14 | g.67782974C>G | CA390170676 | ZFYVE26 | c.4178G>C (p.Gly1393Ala) n.4315G>C c.*2350+125G>C (n.*2350+125G>C) c.2669G>C (p.Gly890Ala) c.1853G>C (p.Gly618Ala) c.1760G>C (p.Gly587Ala) | |
| 14 | g.67782974C>T | CA390170677 | ZFYVE26 | c.4178G>A (p.Gly1393Asp) n.4315G>A c.*2350+125G>A (n.*2350+125G>A) c.2669G>A (p.Gly890Asp) c.1853G>A (p.Gly618Asp) c.1760G>A (p.Gly587Asp) | |
| 14 | g.67782974_67782975insT | CA2580088645 | ZFYVE26 | c.4177_4178insA (p.Gly1393GlufsTer23) n.4314_4315insA c.*2350+124_*2350+125insA (n.*2350+124_*2350+125insA) c.2668_2669insA (p.Gly890GlufsTer23) c.1852_1853insA (p.Gly618GlufsTer23) c.1759_1760insA (p.Gly587GlufsTer23) | ClinVar |
| 14 | g.67782975C>A | CA390170680 | ZFYVE26 | c.4177G>T (p.Gly1393Cys) n.4314G>T c.*2350+124G>T (n.*2350+124G>T) c.2668G>T (p.Gly890Cys) c.1852G>T (p.Gly618Cys) c.1759G>T (p.Gly587Cys) | |
| 14 | g.67782975C>G | CA390170678 | ZFYVE26 | c.4177G>C (p.Gly1393Arg) n.4314G>C c.*2350+124G>C (n.*2350+124G>C) c.2668G>C (p.Gly890Arg) c.1852G>C (p.Gly618Arg) c.1759G>C (p.Gly587Arg) | |
| 14 | g.67782975C>T | CA390170679 | ZFYVE26 | c.4177G>A (p.Gly1393Ser) n.4314G>A c.*2350+124G>A (n.*2350+124G>A) c.2668G>A (p.Gly890Ser) c.1852G>A (p.Gly618Ser) c.1759G>A (p.Gly587Ser) | |
| 14 | g.67782975_67782976insCAAACACACCCAAC | CA2801976546 | ZFYVE26 | c.4177_4178insTTGGGTGTGTTTGG (p.Gly1393ValfsTer23) n.4314_4315insTTGGGTGTGTTTGG c.*2350+124_*2350+125insTTGGGTGTGTTTGG (n.*2350+124_*2350+125insTTGGGTGTGTTTGG) c.2668_2669insTTGGGTGTGTTTGG (p.Gly890ValfsTer23) c.1852_1853insTTGGGTGTGTTTGG (p.Gly618ValfsTer23) c.1759_1760insTTGGGTGTGTTTGG (p.Gly587ValfsTer23) | |
| 14 | g.67782977_67782978del | CA2575559837 | ZFYVE26 | c.4176_4177del (p.Cys1392TrpfsTer23) n.4313_4314del c.*2350+123_*2350+124del (n.*2350+123_*2350+124del) c.2667_2668del (p.Cys889TrpfsTer23) c.1851_1852del (p.Cys617TrpfsTer23) c.1758_1759del (p.Cys586TrpfsTer23) | |
| 14 | g.67782976A= | CA2144027705 | ZFYVE26 | c.4176T= (p.Cys1392=) n.4313T= c.*2350+123T= (n.*2350+123T=) c.2667T= (p.Cys889=) c.1851T= (p.Cys617=) c.1758T= (p.Cys586=) | |
| 14 | g.67782976A>C | CA390170681 | ZFYVE26 | c.4176T>G (p.Cys1392Trp) n.4313T>G c.*2350+123T>G (n.*2350+123T>G) c.2667T>G (p.Cys889Trp) c.1851T>G (p.Cys617Trp) c.1758T>G (p.Cys586Trp) | |
| 14 | g.67782976A>G | CA7239825 | ZFYVE26 | c.4176T>C (p.Cys1392=) n.4313T>C c.*2350+123T>C (n.*2350+123T>C) c.2667T>C (p.Cys889=) c.1851T>C (p.Cys617=) c.1758T>C (p.Cys586=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782976A>T | CA390170682 | ZFYVE26 | c.4176T>A (p.Cys1392Ter) n.4313T>A c.*2350+123T>A (n.*2350+123T>A) c.2667T>A (p.Cys889Ter) c.1851T>A (p.Cys617Ter) c.1758T>A (p.Cys586Ter) | |
| 14 | g.67782977C>A | CA390170683 | ZFYVE26 | c.4175G>T (p.Cys1392Phe) n.4312G>T c.*2350+122G>T (n.*2350+122G>T) c.2666G>T (p.Cys889Phe) c.1850G>T (p.Cys617Phe) c.1757G>T (p.Cys586Phe) | |
| 14 | g.67782977C>G | CA390170684 | ZFYVE26 | c.4175G>C (p.Cys1392Ser) n.4312G>C c.*2350+122G>C (n.*2350+122G>C) c.2666G>C (p.Cys889Ser) c.1850G>C (p.Cys617Ser) c.1757G>C (p.Cys586Ser) | |
| 14 | g.67782977C>T | CA390170685 | ZFYVE26 | c.4175G>A (p.Cys1392Tyr) n.4312G>A c.*2350+122G>A (n.*2350+122G>A) c.2666G>A (p.Cys889Tyr) c.1850G>A (p.Cys617Tyr) c.1757G>A (p.Cys586Tyr) | gnomAD v4 |
| 14 | g.67782977_67782979delinsCAG | CA2144027706 | ZFYVE26 | c.4173_4175delinsCTG (p.Leu1391=) n.4310_4312delinsCTG c.*2350+120_*2350+122delinsCTG (n.*2350+120_*2350+122delinsCTG) c.2664_2666delinsCTG (p.Leu888=) c.1848_1850delinsCTG (p.Leu616=) c.1755_1757delinsCTG (p.Leu585=) | |
| 14 | g.67782978A>C | CA390170686 | ZFYVE26 | c.4174T>G (p.Cys1392Gly) n.4311T>G c.*2350+121T>G (n.*2350+121T>G) c.2665T>G (p.Cys889Gly) c.1849T>G (p.Cys617Gly) c.1756T>G (p.Cys586Gly) | |
| 14 | g.67782978A>G | CA390170687 | ZFYVE26 | c.4174T>C (p.Cys1392Arg) n.4311T>C c.*2350+121T>C (n.*2350+121T>C) c.2665T>C (p.Cys889Arg) c.1849T>C (p.Cys617Arg) c.1756T>C (p.Cys586Arg) | |
| 14 | g.67782978A>T | CA390170688 | ZFYVE26 | c.4174T>A (p.Cys1392Ser) n.4311T>A c.*2350+121T>A (n.*2350+121T>A) c.2665T>A (p.Cys889Ser) c.1849T>A (p.Cys617Ser) c.1756T>A (p.Cys586Ser) | |
| 14 | g.67782981_67782982del | CA964243877 | ZFYVE26 | c.4173_4174del (p.Cys1392TrpfsTer23) n.4310_4311del c.*2350+120_*2350+121del (n.*2350+120_*2350+121del) c.2664_2665del (p.Cys889TrpfsTer23) c.1848_1849del (p.Cys617TrpfsTer23) c.1755_1756del (p.Cys586TrpfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782979G>A | CA486970733 | ZFYVE26 | c.4173C>T (p.Leu1391=) n.4310C>T c.*2350+120C>T (n.*2350+120C>T) c.2664C>T (p.Leu888=) c.1848C>T (p.Leu616=) c.1755C>T (p.Leu585=) | ClinVar dbSNP |
| 14 | g.67782979G>C | CA486970734 | ZFYVE26 | c.4173C>G (p.Leu1391=) n.4310C>G c.*2350+120C>G (n.*2350+120C>G) c.2664C>G (p.Leu888=) c.1848C>G (p.Leu616=) c.1755C>G (p.Leu585=) | |
| 14 | g.67782979G>T | CA486970735 | ZFYVE26 | c.4173C>A (p.Leu1391=) n.4310C>A c.*2350+120C>A (n.*2350+120C>A) c.2664C>A (p.Leu888=) c.1848C>A (p.Leu616=) c.1755C>A (p.Leu585=) | |
| 14 | g.67782980A>C | CA390170689 | ZFYVE26 | c.4172T>G (p.Leu1391Arg) n.4309T>G c.*2350+119T>G (n.*2350+119T>G) c.2663T>G (p.Leu888Arg) c.1847T>G (p.Leu616Arg) c.1754T>G (p.Leu585Arg) | |
| 14 | g.67782980A>G | CA390170690 | ZFYVE26 | c.4172T>C (p.Leu1391Pro) n.4309T>C c.*2350+119T>C (n.*2350+119T>C) c.2663T>C (p.Leu888Pro) c.1847T>C (p.Leu616Pro) c.1754T>C (p.Leu585Pro) | |
| 14 | g.67782980A>T | CA390170691 | ZFYVE26 | c.4172T>A (p.Leu1391His) n.4309T>A c.*2350+119T>A (n.*2350+119T>A) c.2663T>A (p.Leu888His) c.1847T>A (p.Leu616His) c.1754T>A (p.Leu585His) | |
| 14 | g.67782981G>A | CA390170693 | ZFYVE26 | c.4171C>T (p.Leu1391Phe) n.4308C>T c.*2350+118C>T (n.*2350+118C>T) c.2662C>T (p.Leu888Phe) c.1846C>T (p.Leu616Phe) c.1753C>T (p.Leu585Phe) | COSMIC |
| 14 | g.67782981G>C | CA390170694 | ZFYVE26 | c.4171C>G (p.Leu1391Val) n.4308C>G c.*2350+118C>G (n.*2350+118C>G) c.2662C>G (p.Leu888Val) c.1846C>G (p.Leu616Val) c.1753C>G (p.Leu585Val) | ClinVar dbSNP |
| 14 | g.67782981G= | CA2144027707 | ZFYVE26 | c.4171C= (p.Leu1391=) n.4308C= c.*2350+118C= (n.*2350+118C=) c.2662C= (p.Leu888=) c.1846C= (p.Leu616=) c.1753C= (p.Leu585=) | |
| 14 | g.67782981G>T | CA390170692 | ZFYVE26 | c.4171C>A (p.Leu1391Ile) n.4308C>A c.*2350+118C>A (n.*2350+118C>A) c.2662C>A (p.Leu888Ile) c.1846C>A (p.Leu616Ile) c.1753C>A (p.Leu585Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782982A>C | CA390170695 | ZFYVE26 | c.4170T>G (p.Asn1390Lys) n.4307T>G c.*2350+117T>G (n.*2350+117T>G) c.2661T>G (p.Asn887Lys) c.1845T>G (p.Asn615Lys) c.1752T>G (p.Asn584Lys) | |
| 14 | g.67782982A>G | CA486970736 | ZFYVE26 | c.4170T>C (p.Asn1390=) n.4307T>C c.*2350+117T>C (n.*2350+117T>C) c.2661T>C (p.Asn887=) c.1845T>C (p.Asn615=) c.1752T>C (p.Asn584=) | |
| 14 | g.67782982A>T | CA390170696 | ZFYVE26 | c.4170T>A (p.Asn1390Lys) n.4307T>A c.*2350+117T>A (n.*2350+117T>A) c.2661T>A (p.Asn887Lys) c.1845T>A (p.Asn615Lys) c.1752T>A (p.Asn584Lys) | |
| 14 | g.67782983T>A | CA390170697 | ZFYVE26 | c.4169A>T (p.Asn1390Ile) n.4306A>T c.*2350+116A>T (n.*2350+116A>T) c.2660A>T (p.Asn887Ile) c.1844A>T (p.Asn615Ile) c.1751A>T (p.Asn584Ile) | |
| 14 | g.67782983T>C | CA390170698 | ZFYVE26 | c.4169A>G (p.Asn1390Ser) n.4306A>G c.*2350+116A>G (n.*2350+116A>G) c.2660A>G (p.Asn887Ser) c.1844A>G (p.Asn615Ser) c.1751A>G (p.Asn584Ser) | |
| 14 | g.67782983T>G | CA390170699 | ZFYVE26 | c.4169A>C (p.Asn1390Thr) n.4306A>C c.*2350+116A>C (n.*2350+116A>C) c.2660A>C (p.Asn887Thr) c.1844A>C (p.Asn615Thr) c.1751A>C (p.Asn584Thr) | |
| 14 | g.67782984T>A | CA390170701 | ZFYVE26 | c.4168A>T (p.Asn1390Tyr) n.4305A>T c.*2350+115A>T (n.*2350+115A>T) c.2659A>T (p.Asn887Tyr) c.1843A>T (p.Asn615Tyr) c.1750A>T (p.Asn584Tyr) | |
| 14 | g.67782984T>C | CA7239826 | ZFYVE26 | c.4168A>G (p.Asn1390Asp) n.4305A>G c.*2350+115A>G (n.*2350+115A>G) c.2659A>G (p.Asn887Asp) c.1843A>G (p.Asn615Asp) c.1750A>G (p.Asn584Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782984T>G | CA390170700 | ZFYVE26 | c.4168A>C (p.Asn1390His) n.4305A>C c.*2350+115A>C (n.*2350+115A>C) c.2659A>C (p.Asn887His) c.1843A>C (p.Asn615His) c.1750A>C (p.Asn584His) | |
| 14 | g.67782984T= | CA2144027708 | ZFYVE26 | c.4168A= (p.Asn1390=) n.4305A= c.*2350+115A= (n.*2350+115A=) c.2659A= (p.Asn887=) c.1843A= (p.Asn615=) c.1750A= (p.Asn584=) | |
| 14 | g.67782985C>A | CA486970739 | ZFYVE26 | c.4167G>T (p.Val1389=) n.4304G>T c.*2350+114G>T (n.*2350+114G>T) c.2658G>T (p.Val886=) c.1842G>T (p.Val614=) c.1749G>T (p.Val583=) | |
| 14 | g.67782985C>G | CA486970737 | ZFYVE26 | c.4167G>C (p.Val1389=) n.4304G>C c.*2350+114G>C (n.*2350+114G>C) c.2658G>C (p.Val886=) c.1842G>C (p.Val614=) c.1749G>C (p.Val583=) | |
| 14 | g.67782985C>T | CA486970738 | ZFYVE26 | c.4167G>A (p.Val1389=) n.4304G>A c.*2350+114G>A (n.*2350+114G>A) c.2658G>A (p.Val886=) c.1842G>A (p.Val614=) c.1749G>A (p.Val583=) | |
| 14 | g.67782986A>C | CA390170702 | ZFYVE26 | c.4166T>G (p.Val1389Gly) n.4303T>G c.*2350+113T>G (n.*2350+113T>G) c.2657T>G (p.Val886Gly) c.1841T>G (p.Val614Gly) c.1748T>G (p.Val583Gly) | gnomAD v4 |
| 14 | g.67782986A>G | CA390170703 | ZFYVE26 | c.4166T>C (p.Val1389Ala) n.4303T>C c.*2350+113T>C (n.*2350+113T>C) c.2657T>C (p.Val886Ala) c.1841T>C (p.Val614Ala) c.1748T>C (p.Val583Ala) | |
| 14 | g.67782986A>T | CA390170704 | ZFYVE26 | c.4166T>A (p.Val1389Glu) n.4303T>A c.*2350+113T>A (n.*2350+113T>A) c.2657T>A (p.Val886Glu) c.1841T>A (p.Val614Glu) c.1748T>A (p.Val583Glu) | |
| 14 | g.67782987C>A | CA390170705 | ZFYVE26 | c.4165G>T (p.Val1389Leu) n.4302G>T c.*2350+112G>T (n.*2350+112G>T) c.2656G>T (p.Val886Leu) c.1840G>T (p.Val614Leu) c.1747G>T (p.Val583Leu) | |
| 14 | g.67782987C>G | CA390170706 | ZFYVE26 | c.4165G>C (p.Val1389Leu) n.4302G>C c.*2350+112G>C (n.*2350+112G>C) c.2656G>C (p.Val886Leu) c.1840G>C (p.Val614Leu) c.1747G>C (p.Val583Leu) | gnomAD v4 |
| 14 | g.67782987C>T | CA390170707 | ZFYVE26 | c.4165G>A (p.Val1389Met) n.4302G>A c.*2350+112G>A (n.*2350+112G>A) c.2656G>A (p.Val886Met) c.1840G>A (p.Val614Met) c.1747G>A (p.Val583Met) | |
| 14 | g.67782988T>A | CA486970740 | ZFYVE26 | c.4164A>T (p.Ala1388=) n.4301A>T c.*2350+111A>T (n.*2350+111A>T) c.2655A>T (p.Ala885=) c.1839A>T (p.Ala613=) c.1746A>T (p.Ala582=) | COSMIC |
| 14 | g.67782988T>C | CA486970741 | ZFYVE26 | c.4164A>G (p.Ala1388=) n.4301A>G c.*2350+111A>G (n.*2350+111A>G) c.2655A>G (p.Ala885=) c.1839A>G (p.Ala613=) c.1746A>G (p.Ala582=) | |
| 14 | g.67782988T>G | CA486970742 | ZFYVE26 | c.4164A>C (p.Ala1388=) n.4301A>C c.*2350+111A>C (n.*2350+111A>C) c.2655A>C (p.Ala885=) c.1839A>C (p.Ala613=) c.1746A>C (p.Ala582=) | |
| 14 | g.67782989G>A | CA390170710 | ZFYVE26 | c.4163C>T (p.Ala1388Val) n.4300C>T c.*2350+110C>T (n.*2350+110C>T) c.2654C>T (p.Ala885Val) c.1838C>T (p.Ala613Val) c.1745C>T (p.Ala582Val) | |
| 14 | g.67782989G>C | CA390170708 | ZFYVE26 | c.4163C>G (p.Ala1388Gly) n.4300C>G c.*2350+110C>G (n.*2350+110C>G) c.2654C>G (p.Ala885Gly) c.1838C>G (p.Ala613Gly) c.1745C>G (p.Ala582Gly) | |
| 14 | g.67782989G>T | CA390170709 | ZFYVE26 | c.4163C>A (p.Ala1388Glu) n.4300C>A c.*2350+110C>A (n.*2350+110C>A) c.2654C>A (p.Ala885Glu) c.1838C>A (p.Ala613Glu) c.1745C>A (p.Ala582Glu) | |
| 14 | g.67782990C>A | CA390170711 | ZFYVE26 | c.4162G>T (p.Ala1388Ser) n.4299G>T c.*2350+109G>T (n.*2350+109G>T) c.2653G>T (p.Ala885Ser) c.1837G>T (p.Ala613Ser) c.1744G>T (p.Ala582Ser) | |
| 14 | g.67782990C>G | CA390170712 | ZFYVE26 | c.4162G>C (p.Ala1388Pro) n.4299G>C c.*2350+109G>C (n.*2350+109G>C) c.2653G>C (p.Ala885Pro) c.1837G>C (p.Ala613Pro) c.1744G>C (p.Ala582Pro) | |
| 14 | g.67782990C>T | CA390170713 | ZFYVE26 | c.4162G>A (p.Ala1388Thr) n.4299G>A c.*2350+109G>A (n.*2350+109G>A) c.2653G>A (p.Ala885Thr) c.1837G>A (p.Ala613Thr) c.1744G>A (p.Ala582Thr) | |
| 14 | g.67782991C>A | CA486970744 | ZFYVE26 | c.4161G>T (p.Leu1387=) n.4298G>T c.*2350+108G>T (n.*2350+108G>T) c.2652G>T (p.Leu884=) c.1836G>T (p.Leu612=) c.1743G>T (p.Leu581=) | |
| 14 | g.67782991C= | CA2144027709 | ZFYVE26 | c.4161G= (p.Leu1387=) n.4298G= c.*2350+108G= (n.*2350+108G=) c.2652G= (p.Leu884=) c.1836G= (p.Leu612=) c.1743G= (p.Leu581=) | |
| 14 | g.67782991C>G | CA486970743 | ZFYVE26 | c.4161G>C (p.Leu1387=) n.4298G>C c.*2350+108G>C (n.*2350+108G>C) c.2652G>C (p.Leu884=) c.1836G>C (p.Leu612=) c.1743G>C (p.Leu581=) | |
| 14 | g.67782991C>T | CA486970745 | ZFYVE26 | c.4161G>A (p.Leu1387=) n.4298G>A c.*2350+108G>A (n.*2350+108G>A) c.2652G>A (p.Leu884=) c.1836G>A (p.Leu612=) c.1743G>A (p.Leu581=) | ClinVar dbSNP |
| 14 | g.67782992A= | CA2144027710 | ZFYVE26 | c.4160T= (p.Leu1387=) n.4297T= c.*2350+107T= (n.*2350+107T=) c.2651T= (p.Leu884=) c.1835T= (p.Leu612=) c.1742T= (p.Leu581=) | |
| 14 | g.67782992A>C | CA390170714 | ZFYVE26 | c.4160T>G (p.Leu1387Arg) n.4297T>G c.*2350+107T>G (n.*2350+107T>G) c.2651T>G (p.Leu884Arg) c.1835T>G (p.Leu612Arg) c.1742T>G (p.Leu581Arg) | |
| 14 | g.67782992A>G | CA390170715 | ZFYVE26 | c.4160T>C (p.Leu1387Pro) n.4297T>C c.*2350+107T>C (n.*2350+107T>C) c.2651T>C (p.Leu884Pro) c.1835T>C (p.Leu612Pro) c.1742T>C (p.Leu581Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67782992A>T | CA390170716 | ZFYVE26 | c.4160T>A (p.Leu1387Gln) n.4297T>A c.*2350+107T>A (n.*2350+107T>A) c.2651T>A (p.Leu884Gln) c.1835T>A (p.Leu612Gln) c.1742T>A (p.Leu581Gln) | |
| 14 | g.67782993G>A | CA486970746 | ZFYVE26 | c.4159C>T (p.Leu1387=) n.4296C>T c.*2350+106C>T (n.*2350+106C>T) c.2650C>T (p.Leu884=) c.1834C>T (p.Leu612=) c.1741C>T (p.Leu581=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782993G>C | CA390170717 | ZFYVE26 | c.4159C>G (p.Leu1387Val) n.4296C>G c.*2350+106C>G (n.*2350+106C>G) c.2650C>G (p.Leu884Val) c.1834C>G (p.Leu612Val) c.1741C>G (p.Leu581Val) | |
| 14 | g.67782993G= | CA2144027711 | ZFYVE26 | c.4159C= (p.Leu1387=) n.4296C= c.*2350+106C= (n.*2350+106C=) c.2650C= (p.Leu884=) c.1834C= (p.Leu612=) c.1741C= (p.Leu581=) | |
| 14 | g.67782993G>T | CA390170718 | ZFYVE26 | c.4159C>A (p.Leu1387Met) n.4296C>A c.*2350+106C>A (n.*2350+106C>A) c.2650C>A (p.Leu884Met) c.1834C>A (p.Leu612Met) c.1741C>A (p.Leu581Met) | |
| 14 | g.67782994A>C | CA390170719 | ZFYVE26 | c.4158T>G (p.Ser1386Arg) n.4295T>G c.*2350+105T>G (n.*2350+105T>G) c.2649T>G (p.Ser883Arg) c.1833T>G (p.Ser611Arg) c.1740T>G (p.Ser580Arg) | |
| 14 | g.67782994A>G | CA486970747 | ZFYVE26 | c.4158T>C (p.Ser1386=) n.4295T>C c.*2350+105T>C (n.*2350+105T>C) c.2649T>C (p.Ser883=) c.1833T>C (p.Ser611=) c.1740T>C (p.Ser580=) | |
| 14 | g.67782994A>T | CA390170720 | ZFYVE26 | c.4158T>A (p.Ser1386Arg) n.4295T>A c.*2350+105T>A (n.*2350+105T>A) c.2649T>A (p.Ser883Arg) c.1833T>A (p.Ser611Arg) c.1740T>A (p.Ser580Arg) | |
| 14 | g.67782995C>A | CA390170721 | ZFYVE26 | c.4157G>T (p.Ser1386Ile) n.4294G>T c.*2350+104G>T (n.*2350+104G>T) c.2648G>T (p.Ser883Ile) c.1832G>T (p.Ser611Ile) c.1739G>T (p.Ser580Ile) | |
| 14 | g.67782995C>G | CA390170722 | ZFYVE26 | c.4157G>C (p.Ser1386Thr) n.4294G>C c.*2350+104G>C (n.*2350+104G>C) c.2648G>C (p.Ser883Thr) c.1832G>C (p.Ser611Thr) c.1739G>C (p.Ser580Thr) | COSMIC |
| 14 | g.67782995C>T | CA390170723 | ZFYVE26 | c.4157G>A (p.Ser1386Asn) n.4294G>A c.*2350+104G>A (n.*2350+104G>A) c.2648G>A (p.Ser883Asn) c.1832G>A (p.Ser611Asn) c.1739G>A (p.Ser580Asn) | |
| 14 | g.67782996T>A | CA390170724 | ZFYVE26 | c.4156A>T (p.Ser1386Cys) n.4293A>T c.*2350+103A>T (n.*2350+103A>T) c.2647A>T (p.Ser883Cys) c.1831A>T (p.Ser611Cys) c.1738A>T (p.Ser580Cys) | |
| 14 | g.67782996T>C | CA390170726 | ZFYVE26 | c.4156A>G (p.Ser1386Gly) n.4293A>G c.*2350+103A>G (n.*2350+103A>G) c.2647A>G (p.Ser883Gly) c.1831A>G (p.Ser611Gly) c.1738A>G (p.Ser580Gly) | |
| 14 | g.67782996T>G | CA390170725 | ZFYVE26 | c.4156A>C (p.Ser1386Arg) n.4293A>C c.*2350+103A>C (n.*2350+103A>C) c.2647A>C (p.Ser883Arg) c.1831A>C (p.Ser611Arg) c.1738A>C (p.Ser580Arg) | |
| 14 | g.67782997C>A | CA390170727 | ZFYVE26 | c.4155G>T (p.Gln1385His) n.4292G>T c.*2350+102G>T (n.*2350+102G>T) c.2646G>T (p.Gln882His) c.1830G>T (p.Gln610His) c.1737G>T (p.Gln579His) | |
| 14 | g.67782997C= | CA2144027712 | ZFYVE26 | c.4155G= (p.Gln1385=) n.4292G= c.*2350+102G= (n.*2350+102G=) c.2646G= (p.Gln882=) c.1830G= (p.Gln610=) c.1737G= (p.Gln579=) | |
| 14 | g.67782997C>G | CA390170728 | ZFYVE26 | c.4155G>C (p.Gln1385His) n.4292G>C c.*2350+102G>C (n.*2350+102G>C) c.2646G>C (p.Gln882His) c.1830G>C (p.Gln610His) c.1737G>C (p.Gln579His) | |
| 14 | g.67782997C>T | CA486970748 | ZFYVE26 | c.4155G>A (p.Gln1385=) n.4292G>A c.*2350+102G>A (n.*2350+102G>A) c.2646G>A (p.Gln882=) c.1830G>A (p.Gln610=) c.1737G>A (p.Gln579=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782998T>A | CA390170729 | ZFYVE26 | c.4154A>T (p.Gln1385Leu) n.4291A>T c.*2350+101A>T (n.*2350+101A>T) c.2645A>T (p.Gln882Leu) c.1829A>T (p.Gln610Leu) c.1736A>T (p.Gln579Leu) | |
| 14 | g.67782998T>C | CA390170730 | ZFYVE26 | c.4154A>G (p.Gln1385Arg) n.4291A>G c.*2350+101A>G (n.*2350+101A>G) c.2645A>G (p.Gln882Arg) c.1829A>G (p.Gln610Arg) c.1736A>G (p.Gln579Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67782998T>G | CA390170731 | ZFYVE26 | c.4154A>C (p.Gln1385Pro) n.4291A>C c.*2350+101A>C (n.*2350+101A>C) c.2645A>C (p.Gln882Pro) c.1829A>C (p.Gln610Pro) c.1736A>C (p.Gln579Pro) | |
| 14 | g.67782998T= | CA2144027713 | ZFYVE26 | c.4154A= (p.Gln1385=) n.4291A= c.*2350+101A= (n.*2350+101A=) c.2645A= (p.Gln882=) c.1829A= (p.Gln610=) c.1736A= (p.Gln579=) | |
| 14 | g.67782999G>A | CA390170732 | ZFYVE26 | c.4153C>T (p.Gln1385Ter) n.4290C>T c.*2350+100C>T (n.*2350+100C>T) c.2644C>T (p.Gln882Ter) c.1828C>T (p.Gln610Ter) c.1735C>T (p.Gln579Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782999G>C | CA390170733 | ZFYVE26 | c.4153C>G (p.Gln1385Glu) n.4290C>G c.*2350+100C>G (n.*2350+100C>G) c.2644C>G (p.Gln882Glu) c.1828C>G (p.Gln610Glu) c.1735C>G (p.Gln579Glu) | |
| 14 | g.67782999G= | CA2144027714 | ZFYVE26 | c.4153C= (p.Gln1385=) n.4290C= c.*2350+100C= (n.*2350+100C=) c.2644C= (p.Gln882=) c.1828C= (p.Gln610=) c.1735C= (p.Gln579=) | |
| 14 | g.67782999G>T | CA390170734 | ZFYVE26 | c.4153C>A (p.Gln1385Lys) n.4290C>A c.*2350+100C>A (n.*2350+100C>A) c.2644C>A (p.Gln882Lys) c.1828C>A (p.Gln610Lys) c.1735C>A (p.Gln579Lys) | |
| 14 | g.67783000C>A | CA486970749 | ZFYVE26 | c.4152G>T (p.Gly1384=) n.4289G>T c.*2350+99G>T (n.*2350+99G>T) c.2643G>T (p.Gly881=) c.1827G>T (p.Gly609=) c.1734G>T (p.Gly578=) | |
| 14 | g.67783000C= | CA2144027715 | ZFYVE26 | c.4152G= (p.Gly1384=) n.4289G= c.*2350+99G= (n.*2350+99G=) c.2643G= (p.Gly881=) c.1827G= (p.Gly609=) c.1734G= (p.Gly578=) | |
| 14 | g.67783000C>G | CA486970750 | ZFYVE26 | c.4152G>C (p.Gly1384=) n.4289G>C c.*2350+99G>C (n.*2350+99G>C) c.2643G>C (p.Gly881=) c.1827G>C (p.Gly609=) c.1734G>C (p.Gly578=) | |
| 14 | g.67783000C>T | CA486970751 | ZFYVE26 | c.4152G>A (p.Gly1384=) n.4289G>A c.*2350+99G>A (n.*2350+99G>A) c.2643G>A (p.Gly881=) c.1827G>A (p.Gly609=) c.1734G>A (p.Gly578=) | ClinVar dbSNP |
| 14 | g.67783001C>A | CA390170735 | ZFYVE26 | c.4151G>T (p.Gly1384Val) n.4288G>T c.*2350+98G>T (n.*2350+98G>T) c.2642G>T (p.Gly881Val) c.1826G>T (p.Gly609Val) c.1733G>T (p.Gly578Val) | |
| 14 | g.67783001C= | CA2144027716 | ZFYVE26 | c.4151G= (p.Gly1384=) n.4288G= c.*2350+98G= (n.*2350+98G=) c.2642G= (p.Gly881=) c.1826G= (p.Gly609=) c.1733G= (p.Gly578=) | |
| 14 | g.67783001C>G | CA390170736 | ZFYVE26 | c.4151G>C (p.Gly1384Ala) n.4288G>C c.*2350+98G>C (n.*2350+98G>C) c.2642G>C (p.Gly881Ala) c.1826G>C (p.Gly609Ala) c.1733G>C (p.Gly578Ala) | |
| 14 | g.67783001C>T | CA390170737 | ZFYVE26 | c.4151G>A (p.Gly1384Glu) n.4288G>A c.*2350+98G>A (n.*2350+98G>A) c.2642G>A (p.Gly881Glu) c.1826G>A (p.Gly609Glu) c.1733G>A (p.Gly578Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.67783002C>A | CA390170738 | ZFYVE26 | c.4150G>T (p.Gly1384Trp) n.4287G>T c.*2350+97G>T (n.*2350+97G>T) c.2641G>T (p.Gly881Trp) c.1825G>T (p.Gly609Trp) c.1732G>T (p.Gly578Trp) | |
| 14 | g.67783002C>G | CA390170739 | ZFYVE26 | c.4150G>C (p.Gly1384Arg) n.4287G>C c.*2350+97G>C (n.*2350+97G>C) c.2641G>C (p.Gly881Arg) c.1825G>C (p.Gly609Arg) c.1732G>C (p.Gly578Arg) | |
| 14 | g.67783002C>T | CA390170740 | ZFYVE26 | c.4150G>A (p.Gly1384Arg) n.4287G>A c.*2350+97G>A (n.*2350+97G>A) c.2641G>A (p.Gly881Arg) c.1825G>A (p.Gly609Arg) c.1732G>A (p.Gly578Arg) | |
| 14 | g.67783003C>A | CA390170741 | ZFYVE26 | c.4149G>T (p.Gln1383His) n.4286G>T c.*2350+96G>T (n.*2350+96G>T) c.2640G>T (p.Gln880His) c.1824G>T (p.Gln608His) c.1731G>T (p.Gln577His) | |
| 14 | g.67783003C= | CA2144027717 | ZFYVE26 | c.4149G= (p.Gln1383=) n.4286G= c.*2350+96G= (n.*2350+96G=) c.2640G= (p.Gln880=) c.1824G= (p.Gln608=) c.1731G= (p.Gln577=) | |
| 14 | g.67783003C>G | CA390170742 | ZFYVE26 | c.4149G>C (p.Gln1383His) n.4286G>C c.*2350+96G>C (n.*2350+96G>C) c.2640G>C (p.Gln880His) c.1824G>C (p.Gln608His) c.1731G>C (p.Gln577His) | |
| 14 | g.67783003C>T | CA486970752 | ZFYVE26 | c.4149G>A (p.Gln1383=) n.4286G>A c.*2350+96G>A (n.*2350+96G>A) c.2640G>A (p.Gln880=) c.1824G>A (p.Gln608=) c.1731G>A (p.Gln577=) | dbSNP |
| 14 | g.67783004T>A | CA390170743 | ZFYVE26 | c.4148A>T (p.Gln1383Leu) n.4285A>T c.*2350+95A>T (n.*2350+95A>T) c.2639A>T (p.Gln880Leu) c.1823A>T (p.Gln608Leu) c.1730A>T (p.Gln577Leu) | |
| 14 | g.67783004T>C | CA390170744 | ZFYVE26 | c.4148A>G (p.Gln1383Arg) n.4285A>G c.*2350+95A>G (n.*2350+95A>G) c.2639A>G (p.Gln880Arg) c.1823A>G (p.Gln608Arg) c.1730A>G (p.Gln577Arg) | |
| 14 | g.67783004T>G | CA390170745 | ZFYVE26 | c.4148A>C (p.Gln1383Pro) n.4285A>C c.*2350+95A>C (n.*2350+95A>C) c.2639A>C (p.Gln880Pro) c.1823A>C (p.Gln608Pro) c.1730A>C (p.Gln577Pro) | |
| 14 | g.67783005G>A | CA390170746 | ZFYVE26 | c.4147C>T (p.Gln1383Ter) n.4284C>T c.*2350+94C>T (n.*2350+94C>T) c.2638C>T (p.Gln880Ter) c.1822C>T (p.Gln608Ter) c.1729C>T (p.Gln577Ter) | ClinVar dbSNP |
| 14 | g.67783005G>C | CA390170747 | ZFYVE26 | c.4147C>G (p.Gln1383Glu) n.4284C>G c.*2350+94C>G (n.*2350+94C>G) c.2638C>G (p.Gln880Glu) c.1822C>G (p.Gln608Glu) c.1729C>G (p.Gln577Glu) | |
| 14 | g.67783005G>T | CA390170748 | ZFYVE26 | c.4147C>A (p.Gln1383Lys) n.4284C>A c.*2350+94C>A (n.*2350+94C>A) c.2638C>A (p.Gln880Lys) c.1822C>A (p.Gln608Lys) c.1729C>A (p.Gln577Lys) | |
| 14 | g.67783006C>A | CA390170749 | ZFYVE26 | c.4146G>T (p.Gln1382His) n.4283G>T c.*2350+93G>T (n.*2350+93G>T) c.2637G>T (p.Gln879His) c.1821G>T (p.Gln607His) c.1728G>T (p.Gln576His) | gnomAD v4 |
| 14 | g.67783006C>G | CA390170750 | ZFYVE26 | c.4146G>C (p.Gln1382His) n.4283G>C c.*2350+93G>C (n.*2350+93G>C) c.2637G>C (p.Gln879His) c.1821G>C (p.Gln607His) c.1728G>C (p.Gln576His) | gnomAD v4 |
| 14 | g.67783006C>T | CA486970753 | ZFYVE26 | c.4146G>A (p.Gln1382=) n.4283G>A c.*2350+93G>A (n.*2350+93G>A) c.2637G>A (p.Gln879=) c.1821G>A (p.Gln607=) c.1728G>A (p.Gln576=) | |
| 14 | g.67783007T>A | CA390170751 | ZFYVE26 | c.4145A>T (p.Gln1382Leu) n.4282A>T c.*2350+92A>T (n.*2350+92A>T) c.2636A>T (p.Gln879Leu) c.1820A>T (p.Gln607Leu) c.1727A>T (p.Gln576Leu) | |
| 14 | g.67783007T>C | CA390170752 | ZFYVE26 | c.4145A>G (p.Gln1382Arg) n.4282A>G c.*2350+92A>G (n.*2350+92A>G) c.2636A>G (p.Gln879Arg) c.1820A>G (p.Gln607Arg) c.1727A>G (p.Gln576Arg) | |
| 14 | g.67783007T>G | CA390170753 | ZFYVE26 | c.4145A>C (p.Gln1382Pro) n.4282A>C c.*2350+92A>C (n.*2350+92A>C) c.2636A>C (p.Gln879Pro) c.1820A>C (p.Gln607Pro) c.1727A>C (p.Gln576Pro) | |
| 14 | g.67783008G>A | CA390170756 | ZFYVE26 | c.4144C>T (p.Gln1382Ter) n.4281C>T c.*2350+91C>T (n.*2350+91C>T) c.2635C>T (p.Gln879Ter) c.1819C>T (p.Gln607Ter) c.1726C>T (p.Gln576Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67783008G>C | CA390170755 | ZFYVE26 | c.4144C>G (p.Gln1382Glu) n.4281C>G c.*2350+91C>G (n.*2350+91C>G) c.2635C>G (p.Gln879Glu) c.1819C>G (p.Gln607Glu) c.1726C>G (p.Gln576Glu) | |
| 14 | g.67783008G= | CA2144027718 | ZFYVE26 | c.4144C= (p.Gln1382=) n.4281C= c.*2350+91C= (n.*2350+91C=) c.2635C= (p.Gln879=) c.1819C= (p.Gln607=) c.1726C= (p.Gln576=) | |
| 14 | g.67783008G>T | CA390170754 | ZFYVE26 | c.4144C>A (p.Gln1382Lys) n.4281C>A c.*2350+91C>A (n.*2350+91C>A) c.2635C>A (p.Gln879Lys) c.1819C>A (p.Gln607Lys) c.1726C>A (p.Gln576Lys) | |
| 14 | g.67783009C>A | CA390170757 | ZFYVE26 | c.4143G>T (p.Leu1381Phe) n.4280G>T c.*2350+90G>T (n.*2350+90G>T) c.2634G>T (p.Leu878Phe) c.1818G>T (p.Leu606Phe) c.1725G>T (p.Leu575Phe) | |
| 14 | g.67783009C>G | CA390170758 | ZFYVE26 | c.4143G>C (p.Leu1381Phe) n.4280G>C c.*2350+90G>C (n.*2350+90G>C) c.2634G>C (p.Leu878Phe) c.1818G>C (p.Leu606Phe) c.1725G>C (p.Leu575Phe) | |
| 14 | g.67783009C>T | CA486970754 | ZFYVE26 | c.4143G>A (p.Leu1381=) n.4280G>A c.*2350+90G>A (n.*2350+90G>A) c.2634G>A (p.Leu878=) c.1818G>A (p.Leu606=) c.1725G>A (p.Leu575=) | gnomAD v4 |
| 14 | g.67783010A= | CA2144027719 | ZFYVE26 | c.4142T= (p.Leu1381=) n.4279T= c.*2350+89T= (n.*2350+89T=) c.2633T= (p.Leu878=) c.1817T= (p.Leu606=) c.1724T= (p.Leu575=) | |
| 14 | g.67783010A>C | CA390170759 | ZFYVE26 | c.4142T>G (p.Leu1381Trp) n.4279T>G c.*2350+89T>G (n.*2350+89T>G) c.2633T>G (p.Leu878Trp) c.1817T>G (p.Leu606Trp) c.1724T>G (p.Leu575Trp) | gnomAD v4 |
| 14 | g.67783010A>G | CA390170761 | ZFYVE26 | c.4142T>C (p.Leu1381Ser) n.4279T>C c.*2350+89T>C (n.*2350+89T>C) c.2633T>C (p.Leu878Ser) c.1817T>C (p.Leu606Ser) c.1724T>C (p.Leu575Ser) | dbSNP |
| 14 | g.67783010A>T | CA390170760 | ZFYVE26 | c.4142T>A (p.Leu1381Ter) n.4279T>A c.*2350+89T>A (n.*2350+89T>A) c.2633T>A (p.Leu878Ter) c.1817T>A (p.Leu606Ter) c.1724T>A (p.Leu575Ter) | |
| 14 | g.67783011A>C | CA390170762 | ZFYVE26 | c.4141T>G (p.Leu1381Val) n.4278T>G c.*2350+88T>G (n.*2350+88T>G) c.2632T>G (p.Leu878Val) c.1816T>G (p.Leu606Val) c.1723T>G (p.Leu575Val) | |
| 14 | g.67783011A>G | CA486970755 | ZFYVE26 | c.4141T>C (p.Leu1381=) n.4278T>C c.*2350+88T>C (n.*2350+88T>C) c.2632T>C (p.Leu878=) c.1816T>C (p.Leu606=) c.1723T>C (p.Leu575=) | |
| 14 | g.67783011A>T | CA390170763 | ZFYVE26 | c.4141T>A (p.Leu1381Met) n.4278T>A c.*2350+88T>A (n.*2350+88T>A) c.2632T>A (p.Leu878Met) c.1816T>A (p.Leu606Met) c.1723T>A (p.Leu575Met) | |
| 14 | g.67783012A>C | CA486970757 | ZFYVE26 | c.4140T>G (p.Ser1380=) n.4277T>G c.*2350+87T>G (n.*2350+87T>G) c.2631T>G (p.Ser877=) c.1815T>G (p.Ser605=) c.1722T>G (p.Ser574=) | |
| 14 | g.67783012A>G | CA486970758 | ZFYVE26 | c.4140T>C (p.Ser1380=) n.4277T>C c.*2350+87T>C (n.*2350+87T>C) c.2631T>C (p.Ser877=) c.1815T>C (p.Ser605=) c.1722T>C (p.Ser574=) | |
| 14 | g.67783012A>T | CA486970756 | ZFYVE26 | c.4140T>A (p.Ser1380=) n.4277T>A c.*2350+87T>A (n.*2350+87T>A) c.2631T>A (p.Ser877=) c.1815T>A (p.Ser605=) c.1722T>A (p.Ser574=) | |
| 14 | g.67783013G>A | CA390170764 | ZFYVE26 | c.4139C>T (p.Ser1380Phe) n.4276C>T c.*2350+86C>T (n.*2350+86C>T) c.2630C>T (p.Ser877Phe) c.1814C>T (p.Ser605Phe) c.1721C>T (p.Ser574Phe) | |
| 14 | g.67783013G>C | CA390170765 | ZFYVE26 | c.4139C>G (p.Ser1380Cys) n.4276C>G c.*2350+86C>G (n.*2350+86C>G) c.2630C>G (p.Ser877Cys) c.1814C>G (p.Ser605Cys) c.1721C>G (p.Ser574Cys) | |
| 14 | g.67783013G>T | CA390170766 | ZFYVE26 | c.4139C>A (p.Ser1380Tyr) n.4276C>A c.*2350+86C>A (n.*2350+86C>A) c.2630C>A (p.Ser877Tyr) c.1814C>A (p.Ser605Tyr) c.1721C>A (p.Ser574Tyr) | |
| 14 | g.67783014A>C | CA390170767 | ZFYVE26 | c.4138T>G (p.Ser1380Ala) n.4275T>G c.*2350+85T>G (n.*2350+85T>G) c.2629T>G (p.Ser877Ala) c.1813T>G (p.Ser605Ala) c.1720T>G (p.Ser574Ala) | |
| 14 | g.67783014A>G | CA390170768 | ZFYVE26 | c.4138T>C (p.Ser1380Pro) n.4275T>C c.*2350+85T>C (n.*2350+85T>C) c.2629T>C (p.Ser877Pro) c.1813T>C (p.Ser605Pro) c.1720T>C (p.Ser574Pro) | |
| 14 | g.67783014A>T | CA390170769 | ZFYVE26 | c.4138T>A (p.Ser1380Thr) n.4275T>A c.*2350+85T>A (n.*2350+85T>A) c.2629T>A (p.Ser877Thr) c.1813T>A (p.Ser605Thr) c.1720T>A (p.Ser574Thr) | |
| 14 | g.67783015C>A | CA486970761 | ZFYVE26 | c.4137G>T (p.Gly1379=) n.4274G>T c.*2350+84G>T (n.*2350+84G>T) c.2628G>T (p.Gly876=) c.1812G>T (p.Gly604=) c.1719G>T (p.Gly573=) | |
| 14 | g.67783015C>G | CA486970760 | ZFYVE26 | c.4137G>C (p.Gly1379=) n.4274G>C c.*2350+84G>C (n.*2350+84G>C) c.2628G>C (p.Gly876=) c.1812G>C (p.Gly604=) c.1719G>C (p.Gly573=) | |
| 14 | g.67783015C>T | CA486970759 | ZFYVE26 | c.4137G>A (p.Gly1379=) n.4274G>A c.*2350+84G>A (n.*2350+84G>A) c.2628G>A (p.Gly876=) c.1812G>A (p.Gly604=) c.1719G>A (p.Gly573=) | ClinVar dbSNP |
| 14 | g.67783016C>A | CA390170770 | ZFYVE26 | c.4136G>T (p.Gly1379Val) n.4273G>T c.*2350+83G>T (n.*2350+83G>T) c.2627G>T (p.Gly876Val) c.1811G>T (p.Gly604Val) c.1718G>T (p.Gly573Val) | |
| 14 | g.67783016C>G | CA390170771 | ZFYVE26 | c.4136G>C (p.Gly1379Ala) n.4273G>C c.*2350+83G>C (n.*2350+83G>C) c.2627G>C (p.Gly876Ala) c.1811G>C (p.Gly604Ala) c.1718G>C (p.Gly573Ala) | |
| 14 | g.67783016C>T | CA390170772 | ZFYVE26 | c.4136G>A (p.Gly1379Glu) n.4273G>A c.*2350+83G>A (n.*2350+83G>A) c.2627G>A (p.Gly876Glu) c.1811G>A (p.Gly604Glu) c.1718G>A (p.Gly573Glu) | |
| 14 | g.67783017C>A | CA390170775 | ZFYVE26 | c.4135G>T (p.Gly1379Trp) n.4272G>T c.*2350+82G>T (n.*2350+82G>T) c.2626G>T (p.Gly876Trp) c.1810G>T (p.Gly604Trp) c.1717G>T (p.Gly573Trp) | |
| 14 | g.67783017C>G | CA390170774 | ZFYVE26 | c.4135G>C (p.Gly1379Arg) n.4272G>C c.*2350+82G>C (n.*2350+82G>C) c.2626G>C (p.Gly876Arg) c.1810G>C (p.Gly604Arg) c.1717G>C (p.Gly573Arg) | |
| 14 | g.67783017C>T | CA390170773 | ZFYVE26 | c.4135G>A (p.Gly1379Arg) n.4272G>A c.*2350+82G>A (n.*2350+82G>A) c.2626G>A (p.Gly876Arg) c.1810G>A (p.Gly604Arg) c.1717G>A (p.Gly573Arg) | |
| 14 | g.67783018T>A | CA486970762 | ZFYVE26 | c.4134A>T (p.Arg1378=) n.4271A>T c.*2350+81A>T (n.*2350+81A>T) c.2625A>T (p.Arg875=) c.1809A>T (p.Arg603=) c.1716A>T (p.Arg572=) | gnomAD v4 |
| 14 | g.67783018T>C | CA486970764 | ZFYVE26 | c.4134A>G (p.Arg1378=) n.4271A>G c.*2350+81A>G (n.*2350+81A>G) c.2625A>G (p.Arg875=) c.1809A>G (p.Arg603=) c.1716A>G (p.Arg572=) | |
| 14 | g.67783018T>G | CA486970763 | ZFYVE26 | c.4134A>C (p.Arg1378=) n.4271A>C c.*2350+81A>C (n.*2350+81A>C) c.2625A>C (p.Arg875=) c.1809A>C (p.Arg603=) c.1716A>C (p.Arg572=) | |
| 14 | g.67783019C>A | CA390170776 | ZFYVE26 | c.4133G>T (p.Arg1378Leu) n.4270G>T c.*2350+80G>T (n.*2350+80G>T) c.2624G>T (p.Arg875Leu) c.1808G>T (p.Arg603Leu) c.1715G>T (p.Arg572Leu) | |
| 14 | g.67783019C= | CA2144027720 | ZFYVE26 | c.4133G= (p.Arg1378=) n.4270G= c.*2350+80G= (n.*2350+80G=) c.2624G= (p.Arg875=) c.1808G= (p.Arg603=) c.1715G= (p.Arg572=) | |
| 14 | g.67783019C>G | CA390170777 | ZFYVE26 | c.4133G>C (p.Arg1378Pro) n.4270G>C c.*2350+80G>C (n.*2350+80G>C) c.2624G>C (p.Arg875Pro) c.1808G>C (p.Arg603Pro) c.1715G>C (p.Arg572Pro) | |
| 14 | g.67783019C>T | CA7239827 | ZFYVE26 | c.4133G>A (p.Arg1378Gln) n.4270G>A c.*2350+80G>A (n.*2350+80G>A) c.2624G>A (p.Arg875Gln) c.1808G>A (p.Arg603Gln) c.1715G>A (p.Arg572Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67783020G>A | CA390170778 | ZFYVE26 | c.4132C>T (p.Arg1378Ter) n.4269C>T c.*2350+79C>T (n.*2350+79C>T) c.2623C>T (p.Arg875Ter) c.1807C>T (p.Arg603Ter) c.1714C>T (p.Arg572Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.67783020G>C | CA390170779 | ZFYVE26 | c.4132C>G (p.Arg1378Gly) n.4269C>G c.*2350+79C>G (n.*2350+79C>G) c.2623C>G (p.Arg875Gly) c.1807C>G (p.Arg603Gly) c.1714C>G (p.Arg572Gly) | gnomAD v4 |
| 14 | g.67783020G= | CA2144027721 | ZFYVE26 | c.4132C= (p.Arg1378=) n.4269C= c.*2350+79C= (n.*2350+79C=) c.2623C= (p.Arg875=) c.1807C= (p.Arg603=) c.1714C= (p.Arg572=) | |
| 14 | g.67783020G>T | CA7239828 | ZFYVE26 | c.4132C>A (p.Arg1378=) n.4269C>A c.*2350+79C>A (n.*2350+79C>A) c.2623C>A (p.Arg875=) c.1807C>A (p.Arg603=) c.1714C>A (p.Arg572=) | dbSNP ExAC gnomAD v4 |
| 14 | g.67783021C>A | CA486970765 | ZFYVE26 | c.4131G>T (p.Leu1377=) n.4268G>T c.*2350+78G>T (n.*2350+78G>T) c.2622G>T (p.Leu874=) c.1806G>T (p.Leu602=) c.1713G>T (p.Leu571=) | |
| 14 | g.67783021C>G | CA486970766 | ZFYVE26 | c.4131G>C (p.Leu1377=) n.4268G>C c.*2350+78G>C (n.*2350+78G>C) c.2622G>C (p.Leu874=) c.1806G>C (p.Leu602=) c.1713G>C (p.Leu571=) | gnomAD v4 |
| 14 | g.67783021C>T | CA486970767 | ZFYVE26 | c.4131G>A (p.Leu1377=) n.4268G>A c.*2350+78G>A (n.*2350+78G>A) c.2622G>A (p.Leu874=) c.1806G>A (p.Leu602=) c.1713G>A (p.Leu571=) | |
| 14 | g.67783022A>C | CA390170780 | ZFYVE26 | c.4130T>G (p.Leu1377Arg) n.4267T>G c.*2350+77T>G (n.*2350+77T>G) c.2621T>G (p.Leu874Arg) c.1805T>G (p.Leu602Arg) c.1712T>G (p.Leu571Arg) | |
| 14 | g.67783022A>G | CA390170781 | ZFYVE26 | c.4130T>C (p.Leu1377Pro) n.4267T>C c.*2350+77T>C (n.*2350+77T>C) c.2621T>C (p.Leu874Pro) c.1805T>C (p.Leu602Pro) c.1712T>C (p.Leu571Pro) | |
| 14 | g.67783022A>T | CA390170782 | ZFYVE26 | c.4130T>A (p.Leu1377Gln) n.4267T>A c.*2350+77T>A (n.*2350+77T>A) c.2621T>A (p.Leu874Gln) c.1805T>A (p.Leu602Gln) c.1712T>A (p.Leu571Gln) | |
| 14 | g.67783023G>A | CA486970768 | ZFYVE26 | c.4129C>T (p.Leu1377=) n.4266C>T c.*2350+76C>T (n.*2350+76C>T) c.2620C>T (p.Leu874=) c.1804C>T (p.Leu602=) c.1711C>T (p.Leu571=) | |
| 14 | g.67783023G>C | CA390170783 | ZFYVE26 | c.4129C>G (p.Leu1377Val) n.4266C>G c.*2350+76C>G (n.*2350+76C>G) c.2620C>G (p.Leu874Val) c.1804C>G (p.Leu602Val) c.1711C>G (p.Leu571Val) | |
| 14 | g.67783023G>T | CA390170784 | ZFYVE26 | c.4129C>A (p.Leu1377Met) n.4266C>A c.*2350+76C>A (n.*2350+76C>A) c.2620C>A (p.Leu874Met) c.1804C>A (p.Leu602Met) c.1711C>A (p.Leu571Met) | |
| 14 | g.67783024G>A | CA486970769 | ZFYVE26 | c.4128C>T (p.Pro1376=) n.4265C>T c.*2350+75C>T (n.*2350+75C>T) c.2619C>T (p.Pro873=) c.1803C>T (p.Pro601=) c.1710C>T (p.Pro570=) | gnomAD v4 |
| 14 | g.67783024G>C | CA486970770 | ZFYVE26 | c.4128C>G (p.Pro1376=) n.4265C>G c.*2350+75C>G (n.*2350+75C>G) c.2619C>G (p.Pro873=) c.1803C>G (p.Pro601=) c.1710C>G (p.Pro570=) | |
| 14 | g.67783024G>T | CA486970771 | ZFYVE26 | c.4128C>A (p.Pro1376=) n.4265C>A c.*2350+75C>A (n.*2350+75C>A) c.2619C>A (p.Pro873=) c.1803C>A (p.Pro601=) c.1710C>A (p.Pro570=) | ClinVar dbSNP |
| 14 | g.67783025G>A | CA390170787 | ZFYVE26 | c.4127C>T (p.Pro1376Leu) n.4264C>T c.*2350+74C>T (n.*2350+74C>T) c.2618C>T (p.Pro873Leu) c.1802C>T (p.Pro601Leu) c.1709C>T (p.Pro570Leu) | |
| 14 | g.67783025G>C | CA390170786 | ZFYVE26 | c.4127C>G (p.Pro1376Arg) n.4264C>G c.*2350+74C>G (n.*2350+74C>G) c.2618C>G (p.Pro873Arg) c.1802C>G (p.Pro601Arg) c.1709C>G (p.Pro570Arg) | |
| 14 | g.67783025G>T | CA390170785 | ZFYVE26 | c.4127C>A (p.Pro1376His) n.4264C>A c.*2350+74C>A (n.*2350+74C>A) c.2618C>A (p.Pro873His) c.1802C>A (p.Pro601His) c.1709C>A (p.Pro570His) | |
| 14 | g.67783026G>A | CA390170788 | ZFYVE26 | c.4126C>T (p.Pro1376Ser) n.4263C>T c.*2350+73C>T (n.*2350+73C>T) c.2617C>T (p.Pro873Ser) c.1801C>T (p.Pro601Ser) c.1708C>T (p.Pro570Ser) | |
| 14 | g.67783026G>C | CA390170789 | ZFYVE26 | c.4126C>G (p.Pro1376Ala) n.4263C>G c.*2350+73C>G (n.*2350+73C>G) c.2617C>G (p.Pro873Ala) c.1801C>G (p.Pro601Ala) c.1708C>G (p.Pro570Ala) | |
| 14 | g.67783026G>T | CA390170790 | ZFYVE26 | c.4126C>A (p.Pro1376Thr) n.4263C>A c.*2350+73C>A (n.*2350+73C>A) c.2617C>A (p.Pro873Thr) c.1801C>A (p.Pro601Thr) c.1708C>A (p.Pro570Thr) | |
| 14 | g.67783027C>A | CA390170791 | ZFYVE26 | c.4125G>T (p.Glu1375Asp) n.4262G>T c.*2350+72G>T (n.*2350+72G>T) c.2616G>T (p.Glu872Asp) c.1800G>T (p.Glu600Asp) c.1707G>T (p.Glu569Asp) | |
| 14 | g.67783027C= | CA2144027722 | ZFYVE26 | c.4125G= (p.Glu1375=) n.4262G= c.*2350+72G= (n.*2350+72G=) c.2616G= (p.Glu872=) c.1800G= (p.Glu600=) c.1707G= (p.Glu569=) | |
| 14 | g.67783027C>G | CA390170792 | ZFYVE26 | c.4125G>C (p.Glu1375Asp) n.4262G>C c.*2350+72G>C (n.*2350+72G>C) c.2616G>C (p.Glu872Asp) c.1800G>C (p.Glu600Asp) c.1707G>C (p.Glu569Asp) | gnomAD v4 |
| 14 | g.67783027C>T | CA7239829 | ZFYVE26 | c.4125G>A (p.Glu1375=) n.4262G>A c.*2350+72G>A (n.*2350+72G>A) c.2616G>A (p.Glu872=) c.1800G>A (p.Glu600=) c.1707G>A (p.Glu569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67783028T>A | CA390170793 | ZFYVE26 | c.4124A>T (p.Glu1375Val) n.4261A>T c.*2350+71A>T (n.*2350+71A>T) c.2615A>T (p.Glu872Val) c.1799A>T (p.Glu600Val) c.1706A>T (p.Glu569Val) | |
| 14 | g.67783028T>C | CA390170794 | ZFYVE26 | c.4124A>G (p.Glu1375Gly) n.4261A>G c.*2350+71A>G (n.*2350+71A>G) c.2615A>G (p.Glu872Gly) c.1799A>G (p.Glu600Gly) c.1706A>G (p.Glu569Gly) | |
| 14 | g.67783028T>G | CA390170795 | ZFYVE26 | c.4124A>C (p.Glu1375Ala) n.4261A>C c.*2350+71A>C (n.*2350+71A>C) c.2615A>C (p.Glu872Ala) c.1799A>C (p.Glu600Ala) c.1706A>C (p.Glu569Ala) | |
| 14 | g.67783029C>A | CA390170796 | ZFYVE26 | c.4123G>T (p.Glu1375Ter) n.4260G>T c.*2350+70G>T (n.*2350+70G>T) c.2614G>T (p.Glu872Ter) c.1798G>T (p.Glu600Ter) c.1705G>T (p.Glu569Ter) | |
| 14 | g.67783029C= | CA2144027723 | ZFYVE26 | c.4123G= (p.Glu1375=) n.4260G= c.*2350+70G= (n.*2350+70G=) c.2614G= (p.Glu872=) c.1798G= (p.Glu600=) c.1705G= (p.Glu569=) | |
| 14 | g.67783029C>G | CA390170797 | ZFYVE26 | c.4123G>C (p.Glu1375Gln) n.4260G>C c.*2350+70G>C (n.*2350+70G>C) c.2614G>C (p.Glu872Gln) c.1798G>C (p.Glu600Gln) c.1705G>C (p.Glu569Gln) | |
| 14 | g.67783029C>T | CA390170798 | ZFYVE26 | c.4123G>A (p.Glu1375Lys) n.4260G>A c.*2350+70G>A (n.*2350+70G>A) c.2614G>A (p.Glu872Lys) c.1798G>A (p.Glu600Lys) c.1705G>A (p.Glu569Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67783030C>A | CA390170801 | ZFYVE26 | c.4122G>T (p.Trp1374Cys) n.4259G>T c.*2350+69G>T (n.*2350+69G>T) c.2613G>T (p.Trp871Cys) c.1797G>T (p.Trp599Cys) c.1704G>T (p.Trp568Cys) | |
| 14 | g.67783030C>G | CA390170799 | ZFYVE26 | c.4122G>C (p.Trp1374Cys) n.4259G>C c.*2350+69G>C (n.*2350+69G>C) c.2613G>C (p.Trp871Cys) c.1797G>C (p.Trp599Cys) c.1704G>C (p.Trp568Cys) | |
| 14 | g.67783030C>T | CA390170800 | ZFYVE26 | c.4122G>A (p.Trp1374Ter) n.4259G>A c.*2350+69G>A (n.*2350+69G>A) c.2613G>A (p.Trp871Ter) c.1797G>A (p.Trp599Ter) c.1704G>A (p.Trp568Ter) | ClinVar |
| 14 | g.67783031C>A | CA390170802 | ZFYVE26 | c.4121G>T (p.Trp1374Leu) n.4258G>T c.*2350+68G>T (n.*2350+68G>T) c.2612G>T (p.Trp871Leu) c.1796G>T (p.Trp599Leu) c.1703G>T (p.Trp568Leu) | |
| 14 | g.67783031C>G | CA390170803 | ZFYVE26 | c.4121G>C (p.Trp1374Ser) n.4258G>C c.*2350+68G>C (n.*2350+68G>C) c.2612G>C (p.Trp871Ser) c.1796G>C (p.Trp599Ser) c.1703G>C (p.Trp568Ser) | |
| 14 | g.67783031C>T | CA390170804 | ZFYVE26 | c.4121G>A (p.Trp1374Ter) n.4258G>A c.*2350+68G>A (n.*2350+68G>A) c.2612G>A (p.Trp871Ter) c.1796G>A (p.Trp599Ter) c.1703G>A (p.Trp568Ter) | ClinVar dbSNP |
| 14 | g.67783032A= | CA2144027724 | ZFYVE26 | c.4120T= (p.Trp1374=) n.4257T= c.*2350+67T= (n.*2350+67T=) c.2611T= (p.Trp871=) c.1795T= (p.Trp599=) c.1702T= (p.Trp568=) | |
| 14 | g.67783032A>C | CA390170805 | ZFYVE26 | c.4120T>G (p.Trp1374Gly) n.4257T>G c.*2350+67T>G (n.*2350+67T>G) c.2611T>G (p.Trp871Gly) c.1795T>G (p.Trp599Gly) c.1702T>G (p.Trp568Gly) | |
| 14 | g.67783032A>G | CA390170806 | ZFYVE26 | c.4120T>C (p.Trp1374Arg) n.4257T>C c.*2350+67T>C (n.*2350+67T>C) c.2611T>C (p.Trp871Arg) c.1795T>C (p.Trp599Arg) c.1702T>C (p.Trp568Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67783032A>T | CA390170807 | ZFYVE26 | c.4120T>A (p.Trp1374Arg) n.4257T>A c.*2350+67T>A (n.*2350+67T>A) c.2611T>A (p.Trp871Arg) c.1795T>A (p.Trp599Arg) c.1702T>A (p.Trp568Arg) | |
| 14 | g.67783033G>A | CA486970775 | ZFYVE26 | c.4119C>T (p.Ala1373=) n.4256C>T c.*2350+66C>T (n.*2350+66C>T) c.2610C>T (p.Ala870=) c.1794C>T (p.Ala598=) c.1701C>T (p.Ala567=) | |
| 14 | g.67783033G>C | CA486970774 | ZFYVE26 | c.4119C>G (p.Ala1373=) n.4256C>G c.*2350+66C>G (n.*2350+66C>G) c.2610C>G (p.Ala870=) c.1794C>G (p.Ala598=) c.1701C>G (p.Ala567=) | |
| 14 | g.67783033G>T | CA486970772 | ZFYVE26 | c.4119C>A (p.Ala1373=) n.4256C>A c.*2350+66C>A (n.*2350+66C>A) c.2610C>A (p.Ala870=) c.1794C>A (p.Ala598=) c.1701C>A (p.Ala567=) | |
| 14 | g.67783034G>A | CA7239830 | ZFYVE26 | c.4118C>T (p.Ala1373Val) n.4255C>T c.*2350+65C>T (n.*2350+65C>T) c.2609C>T (p.Ala870Val) c.1793C>T (p.Ala598Val) c.1700C>T (p.Ala567Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67783034G>C | CA390170808 | ZFYVE26 | c.4118C>G (p.Ala1373Gly) n.4255C>G c.*2350+65C>G (n.*2350+65C>G) c.2609C>G (p.Ala870Gly) c.1793C>G (p.Ala598Gly) c.1700C>G (p.Ala567Gly) | |
| 14 | g.67783034G= | CA2144027725 | ZFYVE26 | c.4118C= (p.Ala1373=) n.4255C= c.*2350+65C= (n.*2350+65C=) c.2609C= (p.Ala870=) c.1793C= (p.Ala598=) c.1700C= (p.Ala567=) | |
| 14 | g.67783034G>T | CA390170809 | ZFYVE26 | c.4118C>A (p.Ala1373Asp) n.4255C>A c.*2350+65C>A (n.*2350+65C>A) c.2609C>A (p.Ala870Asp) c.1793C>A (p.Ala598Asp) c.1700C>A (p.Ala567Asp) | |
| 14 | g.67783035C>A | CA390170810 | ZFYVE26 | c.4117G>T (p.Ala1373Ser) n.4254G>T c.*2350+64G>T (n.*2350+64G>T) c.2608G>T (p.Ala870Ser) c.1792G>T (p.Ala598Ser) c.1699G>T (p.Ala567Ser) | gnomAD v4 |
| 14 | g.67783035C= | CA2144027726 | ZFYVE26 | c.4117G= (p.Ala1373=) n.4254G= c.*2350+64G= (n.*2350+64G=) c.2608G= (p.Ala870=) c.1792G= (p.Ala598=) c.1699G= (p.Ala567=) | |
| 14 | g.67783035C>G | CA7239831 | ZFYVE26 | c.4117G>C (p.Ala1373Pro) n.4254G>C c.*2350+64G>C (n.*2350+64G>C) c.2608G>C (p.Ala870Pro) c.1792G>C (p.Ala598Pro) c.1699G>C (p.Ala567Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67783035C>T | CA390170811 | ZFYVE26 | c.4117G>A (p.Ala1373Thr) n.4254G>A c.*2350+64G>A (n.*2350+64G>A) c.2608G>A (p.Ala870Thr) c.1792G>A (p.Ala598Thr) c.1699G>A (p.Ala567Thr) | |
| 14 | g.67783036A>C | CA486970776 | ZFYVE26 | c.4116T>G (p.Ala1372=) n.4253T>G c.*2350+63T>G (n.*2350+63T>G) c.2607T>G (p.Ala869=) c.1791T>G (p.Ala597=) c.1698T>G (p.Ala566=) | |
| 14 | g.67783036A>G | CA486970777 | ZFYVE26 | c.4116T>C (p.Ala1372=) n.4253T>C c.*2350+63T>C (n.*2350+63T>C) c.2607T>C (p.Ala869=) c.1791T>C (p.Ala597=) c.1698T>C (p.Ala566=) | |
| 14 | g.67783036A>T | CA486970778 | ZFYVE26 | c.4116T>A (p.Ala1372=) n.4253T>A c.*2350+63T>A (n.*2350+63T>A) c.2607T>A (p.Ala869=) c.1791T>A (p.Ala597=) c.1698T>A (p.Ala566=) |