Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745583C>A | CA397503770 | GEMIN4 | c.2460G>T (p.Glu820Asp) c.2427G>T (p.Glu809Asp) c.2472G>T (p.Glu824Asp) | |
17 | g.745583C>G | CA397503769 | GEMIN4 | c.2460G>C (p.Glu820Asp) c.2427G>C (p.Glu809Asp) c.2472G>C (p.Glu824Asp) | gnomAD v4 |
17 | g.745583C>T | CA497383774 | GEMIN4 | c.2460G>A (p.Glu820=) c.2427G>A (p.Glu809=) c.2472G>A (p.Glu824=) | gnomAD v4 |
17 | g.745584T>A | CA397503771 | GEMIN4 | c.2459A>T (p.Glu820Val) c.2426A>T (p.Glu809Val) c.2471A>T (p.Glu824Val) | |
17 | g.745584T>C | CA397503772 | GEMIN4 | c.2459A>G (p.Glu820Gly) c.2426A>G (p.Glu809Gly) c.2471A>G (p.Glu824Gly) | |
17 | g.745584T>G | CA397503773 | GEMIN4 | c.2459A>C (p.Glu820Ala) c.2426A>C (p.Glu809Ala) c.2471A>C (p.Glu824Ala) | gnomAD v4 |
17 | g.745585C>A | CA397503774 | GEMIN4 | c.2458G>T (p.Glu820Ter) c.2425G>T (p.Glu809Ter) c.2470G>T (p.Glu824Ter) | |
17 | g.745585C>G | CA397503775 | GEMIN4 | c.2458G>C (p.Glu820Gln) c.2425G>C (p.Glu809Gln) c.2470G>C (p.Glu824Gln) | |
17 | g.745585C>T | CA397503776 | GEMIN4 | c.2458G>A (p.Glu820Lys) c.2425G>A (p.Glu809Lys) c.2470G>A (p.Glu824Lys) | |
17 | g.745586C>A | CA397503777 | GEMIN4 | c.2457G>T (p.Met819Ile) c.2424G>T (p.Met808Ile) c.2469G>T (p.Met823Ile) | |
17 | g.745586C>G | CA397503778 | GEMIN4 | c.2457G>C (p.Met819Ile) c.2424G>C (p.Met808Ile) c.2469G>C (p.Met823Ile) | |
17 | g.745586C>T | CA397503779 | GEMIN4 | c.2457G>A (p.Met819Ile) c.2424G>A (p.Met808Ile) c.2469G>A (p.Met823Ile) | |
17 | g.745587A= | CA2242474327 | GEMIN4 | c.2456T= (p.Met819=) c.2423T= (p.Met808=) c.2468T= (p.Met823=) | |
17 | g.745587A>C | CA397503780 | GEMIN4 | c.2456T>G (p.Met819Arg) c.2423T>G (p.Met808Arg) c.2468T>G (p.Met823Arg) | |
17 | g.745587A>G | CA397503781 | GEMIN4 | c.2456T>C (p.Met819Thr) c.2423T>C (p.Met808Thr) c.2468T>C (p.Met823Thr) | dbSNP gnomAD v2 |
17 | g.745587A>T | CA397503782 | GEMIN4 | c.2456T>A (p.Met819Lys) c.2423T>A (p.Met808Lys) c.2468T>A (p.Met823Lys) | |
17 | g.745588T>A | CA397503784 | GEMIN4 | c.2455A>T (p.Met819Leu) c.2422A>T (p.Met808Leu) c.2467A>T (p.Met823Leu) | |
17 | g.745588T>C | CA397503785 | GEMIN4 | c.2455A>G (p.Met819Val) c.2422A>G (p.Met808Val) c.2467A>G (p.Met823Val) | dbSNP |
17 | g.745588T>G | CA397503783 | GEMIN4 | c.2455A>C (p.Met819Leu) c.2422A>C (p.Met808Leu) c.2467A>C (p.Met823Leu) | |
17 | g.745588T= | CA2242474328 | GEMIN4 | c.2455A= (p.Met819=) c.2422A= (p.Met808=) c.2467A= (p.Met823=) | |
17 | g.745588dup | CA286713652 | GEMIN4 | c.2455dup (p.Met819AsnfsTer26) c.2422dup (p.Met808AsnfsTer26) c.2467dup (p.Met823AsnfsTer26) | dbSNP |
17 | g.745589C>A | CA397503786 | GEMIN4 | c.2454G>T (p.Trp818Cys) c.2421G>T (p.Trp807Cys) c.2466G>T (p.Trp822Cys) | |
17 | g.745589C= | CA2242474329 | GEMIN4 | c.2454G= (p.Trp818=) c.2421G= (p.Trp807=) c.2466G= (p.Trp822=) | |
17 | g.745589C>G | CA286713653 | GEMIN4 | c.2454G>C (p.Trp818Cys) c.2421G>C (p.Trp807Cys) c.2466G>C (p.Trp822Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745589C>T | CA397503787 | GEMIN4 | c.2454G>A (p.Trp818Ter) c.2421G>A (p.Trp807Ter) c.2466G>A (p.Trp822Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745590C>A | CA397503788 | GEMIN4 | c.2453G>T (p.Trp818Leu) c.2420G>T (p.Trp807Leu) c.2465G>T (p.Trp822Leu) | |
17 | g.745590C= | CA2242474330 | GEMIN4 | c.2453G= (p.Trp818=) c.2420G= (p.Trp807=) c.2465G= (p.Trp822=) | |
17 | g.745590C>G | CA397503789 | GEMIN4 | c.2453G>C (p.Trp818Ser) c.2420G>C (p.Trp807Ser) c.2465G>C (p.Trp822Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745590C>T | CA397503790 | GEMIN4 | c.2453G>A (p.Trp818Ter) c.2420G>A (p.Trp807Ter) c.2465G>A (p.Trp822Ter) | |
17 | g.745591A= | CA2242474331 | GEMIN4 | c.2452T= (p.Trp818=) c.2419T= (p.Trp807=) c.2464T= (p.Trp822=) | |
17 | g.745591A>C | CA397503791 | GEMIN4 | c.2452T>G (p.Trp818Gly) c.2419T>G (p.Trp807Gly) c.2464T>G (p.Trp822Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745591A>G | CA249933 | GEMIN4 | c.2452T>C (p.Trp818Arg) c.2419T>C (p.Trp807Arg) c.2464T>C (p.Trp822Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745591A>T | CA397503792 | GEMIN4 | c.2452T>A (p.Trp818Arg) c.2419T>A (p.Trp807Arg) c.2464T>A (p.Trp822Arg) | |
17 | g.745592G>A | CA497383788 | GEMIN4 | c.2451C>T (p.Ala817=) c.2418C>T (p.Ala806=) c.2463C>T (p.Ala821=) | |
17 | g.745592G>C | CA497383789 | GEMIN4 | c.2451C>G (p.Ala817=) c.2418C>G (p.Ala806=) c.2463C>G (p.Ala821=) | |
17 | g.745592G>T | CA497383790 | GEMIN4 | c.2451C>A (p.Ala817=) c.2418C>A (p.Ala806=) c.2463C>A (p.Ala821=) | |
17 | g.745593G>A | CA397503793 | GEMIN4 | c.2450C>T (p.Ala817Val) c.2417C>T (p.Ala806Val) c.2462C>T (p.Ala821Val) | |
17 | g.745593G>C | CA397503794 | GEMIN4 | c.2450C>G (p.Ala817Gly) c.2417C>G (p.Ala806Gly) c.2462C>G (p.Ala821Gly) | dbSNP gnomAD v2 |
17 | g.745593G= | CA2242474332 | GEMIN4 | c.2450C= (p.Ala817=) c.2417C= (p.Ala806=) c.2462C= (p.Ala821=) | |
17 | g.745593G>T | CA397503795 | GEMIN4 | c.2450C>A (p.Ala817Asp) c.2417C>A (p.Ala806Asp) c.2462C>A (p.Ala821Asp) | |
17 | g.745594C>A | CA397503797 | GEMIN4 | c.2449G>T (p.Ala817Ser) c.2416G>T (p.Ala806Ser) c.2461G>T (p.Ala821Ser) | |
17 | g.745594C>G | CA397503798 | GEMIN4 | c.2449G>C (p.Ala817Pro) c.2416G>C (p.Ala806Pro) c.2461G>C (p.Ala821Pro) | |
17 | g.745594C>T | CA397503796 | GEMIN4 | c.2449G>A (p.Ala817Thr) c.2416G>A (p.Ala806Thr) c.2461G>A (p.Ala821Thr) | |
17 | g.745595C>A | CA497383795 | GEMIN4 | c.2448G>T (p.Leu816=) c.2415G>T (p.Leu805=) c.2460G>T (p.Leu820=) | |
17 | g.745595C>G | CA497383796 | GEMIN4 | c.2448G>C (p.Leu816=) c.2415G>C (p.Leu805=) c.2460G>C (p.Leu820=) | |
17 | g.745595C>T | CA497383797 | GEMIN4 | c.2448G>A (p.Leu816=) c.2415G>A (p.Leu805=) c.2460G>A (p.Leu820=) | |
17 | g.745596A= | CA2242474333 | GEMIN4 | c.2447T= (p.Leu816=) c.2414T= (p.Leu805=) c.2459T= (p.Leu820=) | |
17 | g.745596A>C | CA397503799 | GEMIN4 | c.2447T>G (p.Leu816Arg) c.2414T>G (p.Leu805Arg) c.2459T>G (p.Leu820Arg) | |
17 | g.745596A>G | CA8262416 | GEMIN4 | c.2447T>C (p.Leu816Pro) c.2414T>C (p.Leu805Pro) c.2459T>C (p.Leu820Pro) | dbSNP ExAC |
17 | g.745596A>T | CA397503800 | GEMIN4 | c.2447T>A (p.Leu816Gln) c.2414T>A (p.Leu805Gln) c.2459T>A (p.Leu820Gln) | |
17 | g.745597G>A | CA497383801 | GEMIN4 | c.2446C>T (p.Leu816=) c.2413C>T (p.Leu805=) c.2458C>T (p.Leu820=) | |
17 | g.745597G>C | CA397503801 | GEMIN4 | c.2446C>G (p.Leu816Val) c.2413C>G (p.Leu805Val) c.2458C>G (p.Leu820Val) | |
17 | g.745597G>T | CA397503802 | GEMIN4 | c.2446C>A (p.Leu816Met) c.2413C>A (p.Leu805Met) c.2458C>A (p.Leu820Met) | |
17 | g.745598G>A | CA8262417 | GEMIN4 | c.2445C>T (p.Leu815=) c.2412C>T (p.Leu804=) c.2457C>T (p.Leu819=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745598G>C | CA497383805 | GEMIN4 | c.2445C>G (p.Leu815=) c.2412C>G (p.Leu804=) c.2457C>G (p.Leu819=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745598G= | CA2242474334 | GEMIN4 | c.2445C= (p.Leu815=) c.2412C= (p.Leu804=) c.2457C= (p.Leu819=) | |
17 | g.745598G>T | CA497383806 | GEMIN4 | c.2445C>A (p.Leu815=) c.2412C>A (p.Leu804=) c.2457C>A (p.Leu819=) | |
17 | g.745598_745608dup | CA2635152737 | GEMIN4 | c.2435_2445dup (p.Leu816AlafsTer?) c.2402_2412dup (p.Leu805AlafsTer?) c.2447_2457dup (p.Leu820AlafsTer?) | gnomAD v4 |
17 | g.745599A>C | CA397503805 | GEMIN4 | c.2444T>G (p.Leu815Arg) c.2411T>G (p.Leu804Arg) c.2456T>G (p.Leu819Arg) | |
17 | g.745599A>G | CA397503803 | GEMIN4 | c.2444T>C (p.Leu815Pro) c.2411T>C (p.Leu804Pro) c.2456T>C (p.Leu819Pro) | gnomAD v4 |
17 | g.745599A>T | CA397503804 | GEMIN4 | c.2444T>A (p.Leu815His) c.2411T>A (p.Leu804His) c.2456T>A (p.Leu819His) | |
17 | g.745600G>A | CA397503806 | GEMIN4 | c.2443C>T (p.Leu815Phe) c.2410C>T (p.Leu804Phe) c.2455C>T (p.Leu819Phe) | |
17 | g.745600G>C | CA397503807 | GEMIN4 | c.2443C>G (p.Leu815Val) c.2410C>G (p.Leu804Val) c.2455C>G (p.Leu819Val) | |
17 | g.745600G>T | CA397503808 | GEMIN4 | c.2443C>A (p.Leu815Ile) c.2410C>A (p.Leu804Ile) c.2455C>A (p.Leu819Ile) | |
17 | g.745601C>A | CA497383811 | GEMIN4 | c.2442G>T (p.Gly814=) c.2409G>T (p.Gly803=) c.2454G>T (p.Gly818=) | |
17 | g.745601C>G | CA497383812 | GEMIN4 | c.2442G>C (p.Gly814=) c.2409G>C (p.Gly803=) c.2454G>C (p.Gly818=) | |
17 | g.745601C>T | CA497383813 | GEMIN4 | c.2442G>A (p.Gly814=) c.2409G>A (p.Gly803=) c.2454G>A (p.Gly818=) | gnomAD v4 |
17 | g.745604del | CA2635152745 | GEMIN4 | c.2442del (p.Leu815SerfsTer?) c.2409del (p.Leu804SerfsTer?) c.2454del (p.Leu819SerfsTer?) | gnomAD v4 |
17 | g.745602C>A | CA8262419 | GEMIN4 | c.2441G>T (p.Gly814Val) c.2408G>T (p.Gly803Val) c.2453G>T (p.Gly818Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745602C= | CA2242474335 | GEMIN4 | c.2441G= (p.Gly814=) c.2408G= (p.Gly803=) c.2453G= (p.Gly818=) | |
17 | g.745602C>G | CA397503809 | GEMIN4 | c.2441G>C (p.Gly814Ala) c.2408G>C (p.Gly803Ala) c.2453G>C (p.Gly818Ala) | |
17 | g.745602C>T | CA8262418 | GEMIN4 | c.2441G>A (p.Gly814Glu) c.2408G>A (p.Gly803Glu) c.2453G>A (p.Gly818Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745603C>A | CA397503811 | GEMIN4 | c.2440G>T (p.Gly814Trp) c.2407G>T (p.Gly803Trp) c.2452G>T (p.Gly818Trp) | |
17 | g.745603C>G | CA397503812 | GEMIN4 | c.2440G>C (p.Gly814Arg) c.2407G>C (p.Gly803Arg) c.2452G>C (p.Gly818Arg) | |
17 | g.745603C>T | CA397503810 | GEMIN4 | c.2440G>A (p.Gly814Arg) c.2407G>A (p.Gly803Arg) c.2452G>A (p.Gly818Arg) | gnomAD v4 |
17 | g.745604C>A | CA497383817 | GEMIN4 | c.2439G>T (p.Thr813=) c.2406G>T (p.Thr802=) c.2451G>T (p.Thr817=) | gnomAD v4 |
17 | g.745604C= | CA2242474336 | GEMIN4 | c.2439G= (p.Thr813=) c.2406G= (p.Thr802=) c.2451G= (p.Thr817=) | |
17 | g.745604C>G | CA497383818 | GEMIN4 | c.2439G>C (p.Thr813=) c.2406G>C (p.Thr802=) c.2451G>C (p.Thr817=) | gnomAD v4 |
17 | g.745604C>T | CA8262420 | GEMIN4 | c.2439G>A (p.Thr813=) c.2406G>A (p.Thr802=) c.2451G>A (p.Thr817=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745605G>A | CA8262421 | GEMIN4 | c.2438C>T (p.Thr813Met) c.2405C>T (p.Thr802Met) c.2450C>T (p.Thr817Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745605G>C | CA397503814 | GEMIN4 | c.2438C>G (p.Thr813Arg) c.2405C>G (p.Thr802Arg) c.2450C>G (p.Thr817Arg) | |
17 | g.745605G= | CA2242474337 | GEMIN4 | c.2438C= (p.Thr813=) c.2405C= (p.Thr802=) c.2450C= (p.Thr817=) | |
17 | g.745605G>T | CA397503813 | GEMIN4 | c.2438C>A (p.Thr813Lys) c.2405C>A (p.Thr802Lys) c.2450C>A (p.Thr817Lys) | |
17 | g.745606T>A | CA397503815 | GEMIN4 | c.2437A>T (p.Thr813Ser) c.2404A>T (p.Thr802Ser) c.2449A>T (p.Thr817Ser) | |
17 | g.745606T>C | CA397503817 | GEMIN4 | c.2437A>G (p.Thr813Ala) c.2404A>G (p.Thr802Ala) c.2449A>G (p.Thr817Ala) | |
17 | g.745606T>G | CA397503816 | GEMIN4 | c.2437A>C (p.Thr813Pro) c.2404A>C (p.Thr802Pro) c.2449A>C (p.Thr817Pro) | |
17 | g.745607G>A | CA497383821 | GEMIN4 | c.2436C>T (p.Gly812=) c.2403C>T (p.Gly801=) c.2448C>T (p.Gly816=) | |
17 | g.745607G>C | CA8262422 | GEMIN4 | c.2436C>G (p.Gly812=) c.2403C>G (p.Gly801=) c.2448C>G (p.Gly816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745607G= | CA2242474338 | GEMIN4 | c.2436C= (p.Gly812=) c.2403C= (p.Gly801=) c.2448C= (p.Gly816=) | |
17 | g.745607G>T | CA497383822 | GEMIN4 | c.2436C>A (p.Gly812=) c.2403C>A (p.Gly801=) c.2448C>A (p.Gly816=) | |
17 | g.745608C>A | CA397503818 | GEMIN4 | c.2435G>T (p.Gly812Val) c.2402G>T (p.Gly801Val) c.2447G>T (p.Gly816Val) | |
17 | g.745608C>G | CA397503819 | GEMIN4 | c.2435G>C (p.Gly812Ala) c.2402G>C (p.Gly801Ala) c.2447G>C (p.Gly816Ala) | |
17 | g.745608C>T | CA397503820 | GEMIN4 | c.2435G>A (p.Gly812Asp) c.2402G>A (p.Gly801Asp) c.2447G>A (p.Gly816Asp) | |
17 | g.745610_745620dup | CA2635152767 | GEMIN4 | c.2425_2435dup (p.Leu816AlafsTer?) c.2392_2402dup (p.Leu805AlafsTer?) c.2437_2447dup (p.Leu820AlafsTer?) | gnomAD v4 |
17 | g.745609C>A | CA397503821 | GEMIN4 | c.2434G>T (p.Gly812Cys) c.2401G>T (p.Gly801Cys) c.2446G>T (p.Gly816Cys) | |
17 | g.745609C= | CA2242474339 | GEMIN4 | c.2434G= (p.Gly812=) c.2401G= (p.Gly801=) c.2446G= (p.Gly816=) | |
17 | g.745609C>G | CA397503822 | GEMIN4 | c.2434G>C (p.Gly812Arg) c.2401G>C (p.Gly801Arg) c.2446G>C (p.Gly816Arg) | dbSNP |
17 | g.745609C>T | CA397503823 | GEMIN4 | c.2434G>A (p.Gly812Ser) c.2401G>A (p.Gly801Ser) c.2446G>A (p.Gly816Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745610A>C | CA497383827 | GEMIN4 | c.2433T>G (p.Ala811=) c.2400T>G (p.Ala800=) c.2445T>G (p.Ala815=) | |
17 | g.745610A>G | CA497383828 | GEMIN4 | c.2433T>C (p.Ala811=) c.2400T>C (p.Ala800=) c.2445T>C (p.Ala815=) | |
17 | g.745610A>T | CA497383829 | GEMIN4 | c.2433T>A (p.Ala811=) c.2400T>A (p.Ala800=) c.2445T>A (p.Ala815=) | |
17 | g.745611G>A | CA397503824 | GEMIN4 | c.2432C>T (p.Ala811Val) c.2399C>T (p.Ala800Val) c.2444C>T (p.Ala815Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745611G>C | CA397503825 | GEMIN4 | c.2432C>G (p.Ala811Gly) c.2399C>G (p.Ala800Gly) c.2444C>G (p.Ala815Gly) | |
17 | g.745611G= | CA2242474340 | GEMIN4 | c.2432C= (p.Ala811=) c.2399C= (p.Ala800=) c.2444C= (p.Ala815=) | |
17 | g.745611G>T | CA397503826 | GEMIN4 | c.2432C>A (p.Ala811Asp) c.2399C>A (p.Ala800Asp) c.2444C>A (p.Ala815Asp) | |
17 | g.745612C>A | CA397503829 | GEMIN4 | c.2431G>T (p.Ala811Ser) c.2398G>T (p.Ala800Ser) c.2443G>T (p.Ala815Ser) | |
17 | g.745612C>G | CA397503828 | GEMIN4 | c.2431G>C (p.Ala811Pro) c.2398G>C (p.Ala800Pro) c.2443G>C (p.Ala815Pro) | |
17 | g.745612C>T | CA397503827 | GEMIN4 | c.2431G>A (p.Ala811Thr) c.2398G>A (p.Ala800Thr) c.2443G>A (p.Ala815Thr) | |
17 | g.745613C>A | CA497383837 | GEMIN4 | c.2430G>T (p.Gly810=) c.2397G>T (p.Gly799=) c.2442G>T (p.Gly814=) | |
17 | g.745613C>G | CA497383839 | GEMIN4 | c.2430G>C (p.Gly810=) c.2397G>C (p.Gly799=) c.2442G>C (p.Gly814=) | |
17 | g.745613C>T | CA497383842 | GEMIN4 | c.2430G>A (p.Gly810=) c.2397G>A (p.Gly799=) c.2442G>A (p.Gly814=) | |
17 | g.745614C>A | CA397503830 | GEMIN4 | c.2429G>T (p.Gly810Val) c.2396G>T (p.Gly799Val) c.2441G>T (p.Gly814Val) | |
17 | g.745614C>G | CA397503831 | GEMIN4 | c.2429G>C (p.Gly810Ala) c.2396G>C (p.Gly799Ala) c.2441G>C (p.Gly814Ala) | |
17 | g.745614C>T | CA397503832 | GEMIN4 | c.2429G>A (p.Gly810Glu) c.2396G>A (p.Gly799Glu) c.2441G>A (p.Gly814Glu) | COSMIC COSMIC |
17 | g.745615C>A | CA397503833 | GEMIN4 | c.2428G>T (p.Gly810Trp) c.2395G>T (p.Gly799Trp) c.2440G>T (p.Gly814Trp) | |
17 | g.745615C= | CA2242474341 | GEMIN4 | c.2428G= (p.Gly810=) c.2395G= (p.Gly799=) c.2440G= (p.Gly814=) | |
17 | g.745615C>G | CA397503834 | GEMIN4 | c.2428G>C (p.Gly810Arg) c.2395G>C (p.Gly799Arg) c.2440G>C (p.Gly814Arg) | |
17 | g.745615C>T | CA8262423 | GEMIN4 | c.2428G>A (p.Gly810Arg) c.2395G>A (p.Gly799Arg) c.2440G>A (p.Gly814Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745616G>A | CA8262424 | GEMIN4 | c.2427C>T (p.Tyr809=) c.2394C>T (p.Tyr798=) c.2439C>T (p.Tyr813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745616G>C | CA397503835 | GEMIN4 | c.2427C>G (p.Tyr809Ter) c.2394C>G (p.Tyr798Ter) c.2439C>G (p.Tyr813Ter) | gnomAD v4 |
17 | g.745616G= | CA2242474342 | GEMIN4 | c.2427C= (p.Tyr809=) c.2394C= (p.Tyr798=) c.2439C= (p.Tyr813=) | |
17 | g.745616G>T | CA397503836 | GEMIN4 | c.2427C>A (p.Tyr809Ter) c.2394C>A (p.Tyr798Ter) c.2439C>A (p.Tyr813Ter) | |
17 | g.745617T>A | CA397503837 | GEMIN4 | c.2426A>T (p.Tyr809Phe) c.2393A>T (p.Tyr798Phe) c.2438A>T (p.Tyr813Phe) | |
17 | g.745617T>C | CA397503838 | GEMIN4 | c.2426A>G (p.Tyr809Cys) c.2393A>G (p.Tyr798Cys) c.2438A>G (p.Tyr813Cys) | |
17 | g.745617T>G | CA397503839 | GEMIN4 | c.2426A>C (p.Tyr809Ser) c.2393A>C (p.Tyr798Ser) c.2438A>C (p.Tyr813Ser) | ClinVar |
17 | g.745618A>C | CA397503842 | GEMIN4 | c.2425T>G (p.Tyr809Asp) c.2392T>G (p.Tyr798Asp) c.2437T>G (p.Tyr813Asp) | |
17 | g.745618A>G | CA397503841 | GEMIN4 | c.2425T>C (p.Tyr809His) c.2392T>C (p.Tyr798His) c.2437T>C (p.Tyr813His) | |
17 | g.745618A>T | CA397503840 | GEMIN4 | c.2425T>A (p.Tyr809Asn) c.2392T>A (p.Tyr798Asn) c.2437T>A (p.Tyr813Asn) | |
17 | g.745619C>A | CA497383852 | GEMIN4 | c.2424G>T (p.Gly808=) c.2391G>T (p.Gly797=) c.2436G>T (p.Gly812=) | |
17 | g.745619C= | CA2242474343 | GEMIN4 | c.2424G= (p.Gly808=) c.2391G= (p.Gly797=) c.2436G= (p.Gly812=) | |
17 | g.745619C>G | CA497383855 | GEMIN4 | c.2424G>C (p.Gly808=) c.2391G>C (p.Gly797=) c.2436G>C (p.Gly812=) | gnomAD v4 |
17 | g.745619C>T | CA8262425 | GEMIN4 | c.2424G>A (p.Gly808=) c.2391G>A (p.Gly797=) c.2436G>A (p.Gly812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745620C>A | CA397503843 | GEMIN4 | c.2423G>T (p.Gly808Val) c.2390G>T (p.Gly797Val) c.2435G>T (p.Gly812Val) | gnomAD v4 |
17 | g.745620C>G | CA397503844 | GEMIN4 | c.2423G>C (p.Gly808Ala) c.2390G>C (p.Gly797Ala) c.2435G>C (p.Gly812Ala) | |
17 | g.745620C>T | CA397503845 | GEMIN4 | c.2423G>A (p.Gly808Glu) c.2390G>A (p.Gly797Glu) c.2435G>A (p.Gly812Glu) | gnomAD v4 |
17 | g.745621C>A | CA397503846 | GEMIN4 | c.2422G>T (p.Gly808Trp) c.2389G>T (p.Gly797Trp) c.2434G>T (p.Gly812Trp) | |
17 | g.745621C= | CA2242474344 | GEMIN4 | c.2422G= (p.Gly808=) c.2389G= (p.Gly797=) c.2434G= (p.Gly812=) | |
17 | g.745621C>G | CA397503847 | GEMIN4 | c.2422G>C (p.Gly808Arg) c.2389G>C (p.Gly797Arg) c.2434G>C (p.Gly812Arg) | dbSNP |
17 | g.745621C>T | CA397503848 | GEMIN4 | c.2422G>A (p.Gly808Arg) c.2389G>A (p.Gly797Arg) c.2434G>A (p.Gly812Arg) | |
17 | g.745622T>A | CA497383861 | GEMIN4 | c.2421A>T (p.Pro807=) c.2388A>T (p.Pro796=) c.2433A>T (p.Pro811=) | |
17 | g.745622T>C | CA497383863 | GEMIN4 | c.2421A>G (p.Pro807=) c.2388A>G (p.Pro796=) c.2433A>G (p.Pro811=) | gnomAD v4 |
17 | g.745622T>G | CA497383860 | GEMIN4 | c.2421A>C (p.Pro807=) c.2388A>C (p.Pro796=) c.2433A>C (p.Pro811=) | |
17 | g.745623G>A | CA397503851 | GEMIN4 | c.2420C>T (p.Pro807Leu) c.2387C>T (p.Pro796Leu) c.2432C>T (p.Pro811Leu) | gnomAD v4 |
17 | g.745623G>C | CA397503849 | GEMIN4 | c.2420C>G (p.Pro807Arg) c.2387C>G (p.Pro796Arg) c.2432C>G (p.Pro811Arg) | |
17 | g.745623G>T | CA397503850 | GEMIN4 | c.2420C>A (p.Pro807Gln) c.2387C>A (p.Pro796Gln) c.2432C>A (p.Pro811Gln) | |
17 | g.745624G>A | CA397503852 | GEMIN4 | c.2419C>T (p.Pro807Ser) c.2386C>T (p.Pro796Ser) c.2431C>T (p.Pro811Ser) | |
17 | g.745624G>C | CA286713654 | GEMIN4 | c.2419C>G (p.Pro807Ala) c.2386C>G (p.Pro796Ala) c.2431C>G (p.Pro811Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745624G= | CA2242474345 | GEMIN4 | c.2419C= (p.Pro807=) c.2386C= (p.Pro796=) c.2431C= (p.Pro811=) | |
17 | g.745624G>T | CA397503853 | GEMIN4 | c.2419C>A (p.Pro807Thr) c.2386C>A (p.Pro796Thr) c.2431C>A (p.Pro811Thr) | |
17 | g.745625G>A | CA497383869 | GEMIN4 | c.2418C>T (p.His806=) c.2385C>T (p.His795=) c.2430C>T (p.His810=) | dbSNP gnomAD v2 |
17 | g.745625G>C | CA397503854 | GEMIN4 | c.2418C>G (p.His806Gln) c.2385C>G (p.His795Gln) c.2430C>G (p.His810Gln) | |
17 | g.745625G= | CA2242474346 | GEMIN4 | c.2418C= (p.His806=) c.2385C= (p.His795=) c.2430C= (p.His810=) | |
17 | g.745625G>T | CA397503855 | GEMIN4 | c.2418C>A (p.His806Gln) c.2385C>A (p.His795Gln) c.2430C>A (p.His810Gln) | |
17 | g.745626T>A | CA397503856 | GEMIN4 | c.2417A>T (p.His806Leu) c.2384A>T (p.His795Leu) c.2429A>T (p.His810Leu) | |
17 | g.745626T>C | CA397503858 | GEMIN4 | c.2417A>G (p.His806Arg) c.2384A>G (p.His795Arg) c.2429A>G (p.His810Arg) | |
17 | g.745626T>G | CA397503857 | GEMIN4 | c.2417A>C (p.His806Pro) c.2384A>C (p.His795Pro) c.2429A>C (p.His810Pro) | |
17 | g.745627G>A | CA397503859 | GEMIN4 | c.2416C>T (p.His806Tyr) c.2383C>T (p.His795Tyr) c.2428C>T (p.His810Tyr) | dbSNP |
17 | g.745627G>C | CA397503860 | GEMIN4 | c.2416C>G (p.His806Asp) c.2383C>G (p.His795Asp) c.2428C>G (p.His810Asp) | |
17 | g.745627G= | CA2242474347 | GEMIN4 | c.2416C= (p.His806=) c.2383C= (p.His795=) c.2428C= (p.His810=) | |
17 | g.745627G>T | CA397503861 | GEMIN4 | c.2416C>A (p.His806Asn) c.2383C>A (p.His795Asn) c.2428C>A (p.His810Asn) | |
17 | g.745628G>A | CA497383875 | GEMIN4 | c.2415C>T (p.Ala805=) c.2382C>T (p.Ala794=) c.2427C>T (p.Ala809=) | dbSNP |
17 | g.745628G>C | CA497383873 | GEMIN4 | c.2415C>G (p.Ala805=) c.2382C>G (p.Ala794=) c.2427C>G (p.Ala809=) | |
17 | g.745628G= | CA2242474348 | GEMIN4 | c.2415C= (p.Ala805=) c.2382C= (p.Ala794=) c.2427C= (p.Ala809=) | |
17 | g.745628G>T | CA497383871 | GEMIN4 | c.2415C>A (p.Ala805=) c.2382C>A (p.Ala794=) c.2427C>A (p.Ala809=) | gnomAD v4 |
17 | g.745629G>A | CA397503862 | GEMIN4 | c.2414C>T (p.Ala805Val) c.2381C>T (p.Ala794Val) c.2426C>T (p.Ala809Val) | dbSNP gnomAD v2 |
17 | g.745629G>C | CA397503863 | GEMIN4 | c.2414C>G (p.Ala805Gly) c.2381C>G (p.Ala794Gly) c.2426C>G (p.Ala809Gly) | |
17 | g.745629G= | CA2242474349 | GEMIN4 | c.2414C= (p.Ala805=) c.2381C= (p.Ala794=) c.2426C= (p.Ala809=) | |
17 | g.745629G>T | CA397503864 | GEMIN4 | c.2414C>A (p.Ala805Asp) c.2381C>A (p.Ala794Asp) c.2426C>A (p.Ala809Asp) | gnomAD v4 |
17 | g.745630C>A | CA397503865 | GEMIN4 | c.2413G>T (p.Ala805Ser) c.2380G>T (p.Ala794Ser) c.2425G>T (p.Ala809Ser) | gnomAD v4 |
17 | g.745630C= | CA2242474350 | GEMIN4 | c.2413G= (p.Ala805=) c.2380G= (p.Ala794=) c.2425G= (p.Ala809=) | |
17 | g.745630C>G | CA397503866 | GEMIN4 | c.2413G>C (p.Ala805Pro) c.2380G>C (p.Ala794Pro) c.2425G>C (p.Ala809Pro) | |
17 | g.745630C>T | CA8262426 | GEMIN4 | c.2413G>A (p.Ala805Thr) c.2380G>A (p.Ala794Thr) c.2425G>A (p.Ala809Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745631C>A | CA397503867 | GEMIN4 | c.2412G>T (p.Gln804His) c.2379G>T (p.Gln793His) c.2424G>T (p.Gln808His) | gnomAD v4 |
17 | g.745631C= | CA2242474351 | GEMIN4 | c.2412G= (p.Gln804=) c.2379G= (p.Gln793=) c.2424G= (p.Gln808=) | |
17 | g.745631C>G | CA397503868 | GEMIN4 | c.2412G>C (p.Gln804His) c.2379G>C (p.Gln793His) c.2424G>C (p.Gln808His) | |
17 | g.745631C>T | CA497383886 | GEMIN4 | c.2412G>A (p.Gln804=) c.2379G>A (p.Gln793=) c.2424G>A (p.Gln808=) | dbSNP gnomAD v4 |
17 | g.745632T>A | CA397503870 | GEMIN4 | c.2411A>T (p.Gln804Leu) c.2378A>T (p.Gln793Leu) c.2423A>T (p.Gln808Leu) | |
17 | g.745632T>C | CA397503871 | GEMIN4 | c.2411A>G (p.Gln804Arg) c.2378A>G (p.Gln793Arg) c.2423A>G (p.Gln808Arg) | COSMIC COSMIC |
17 | g.745632T>G | CA397503869 | GEMIN4 | c.2411A>C (p.Gln804Pro) c.2378A>C (p.Gln793Pro) c.2423A>C (p.Gln808Pro) | gnomAD v4 |
17 | g.745633G>A | CA397503872 | GEMIN4 | c.2410C>T (p.Gln804Ter) c.2377C>T (p.Gln793Ter) c.2422C>T (p.Gln808Ter) | |
17 | g.745633G>C | CA397503874 | GEMIN4 | c.2410C>G (p.Gln804Glu) c.2377C>G (p.Gln793Glu) c.2422C>G (p.Gln808Glu) | gnomAD v4 |
17 | g.745633G>T | CA397503873 | GEMIN4 | c.2410C>A (p.Gln804Lys) c.2377C>A (p.Gln793Lys) c.2422C>A (p.Gln808Lys) | |
17 | g.745634G>A | CA497383890 | GEMIN4 | c.2409C>T (p.Ser803=) c.2376C>T (p.Ser792=) c.2421C>T (p.Ser807=) | gnomAD v4 |
17 | g.745634G>C | CA497383891 | GEMIN4 | c.2409C>G (p.Ser803=) c.2376C>G (p.Ser792=) c.2421C>G (p.Ser807=) | |
17 | g.745634G>T | CA497383889 | GEMIN4 | c.2409C>A (p.Ser803=) c.2376C>A (p.Ser792=) c.2421C>A (p.Ser807=) | |
17 | g.745635G>A | CA397503875 | GEMIN4 | c.2408C>T (p.Ser803Phe) c.2375C>T (p.Ser792Phe) c.2420C>T (p.Ser807Phe) | gnomAD v4 |
17 | g.745635G>C | CA397503876 | GEMIN4 | c.2408C>G (p.Ser803Cys) c.2375C>G (p.Ser792Cys) c.2420C>G (p.Ser807Cys) | |
17 | g.745635G>T | CA397503877 | GEMIN4 | c.2408C>A (p.Ser803Tyr) c.2375C>A (p.Ser792Tyr) c.2420C>A (p.Ser807Tyr) | |
17 | g.745636A= | CA2242474352 | GEMIN4 | c.2407T= (p.Ser803=) c.2374T= (p.Ser792=) c.2419T= (p.Ser807=) | |
17 | g.745636A>C | CA397503878 | GEMIN4 | c.2407T>G (p.Ser803Ala) c.2374T>G (p.Ser792Ala) c.2419T>G (p.Ser807Ala) | |
17 | g.745636A>G | CA397503879 | GEMIN4 | c.2407T>C (p.Ser803Pro) c.2374T>C (p.Ser792Pro) c.2419T>C (p.Ser807Pro) | dbSNP |
17 | g.745636A>T | CA397503880 | GEMIN4 | c.2407T>A (p.Ser803Thr) c.2374T>A (p.Ser792Thr) c.2419T>A (p.Ser807Thr) | |
17 | g.745637G>A | CA497383909 | GEMIN4 | c.2406C>T (p.Thr802=) c.2373C>T (p.Thr791=) c.2418C>T (p.Thr806=) | |
17 | g.745637G>C | CA497383907 | GEMIN4 | c.2406C>G (p.Thr802=) c.2373C>G (p.Thr791=) c.2418C>G (p.Thr806=) | |
17 | g.745637G>T | CA497383903 | GEMIN4 | c.2406C>A (p.Thr802=) c.2373C>A (p.Thr791=) c.2418C>A (p.Thr806=) | |
17 | g.745638G>A | CA397503881 | GEMIN4 | c.2405C>T (p.Thr802Ile) c.2372C>T (p.Thr791Ile) c.2417C>T (p.Thr806Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745638G>C | CA397503882 | GEMIN4 | c.2405C>G (p.Thr802Ser) c.2372C>G (p.Thr791Ser) c.2417C>G (p.Thr806Ser) | |
17 | g.745638G= | CA2242474353 | GEMIN4 | c.2405C= (p.Thr802=) c.2372C= (p.Thr791=) c.2417C= (p.Thr806=) | |
17 | g.745638G>T | CA397503883 | GEMIN4 | c.2405C>A (p.Thr802Asn) c.2372C>A (p.Thr791Asn) c.2417C>A (p.Thr806Asn) | |
17 | g.745639T>A | CA397503884 | GEMIN4 | c.2404A>T (p.Thr802Ser) c.2371A>T (p.Thr791Ser) c.2416A>T (p.Thr806Ser) | |
17 | g.745639T>C | CA397503885 | GEMIN4 | c.2404A>G (p.Thr802Ala) c.2371A>G (p.Thr791Ala) c.2416A>G (p.Thr806Ala) | dbSNP |
17 | g.745639T>G | CA397503886 | GEMIN4 | c.2404A>C (p.Thr802Pro) c.2371A>C (p.Thr791Pro) c.2416A>C (p.Thr806Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745639T= | CA2242474354 | GEMIN4 | c.2404A= (p.Thr802=) c.2371A= (p.Thr791=) c.2416A= (p.Thr806=) | |
17 | g.745640C>A | CA397503887 | GEMIN4 | c.2403G>T (p.Trp801Cys) c.2370G>T (p.Trp790Cys) c.2415G>T (p.Trp805Cys) | |
17 | g.745640C>G | CA397503889 | GEMIN4 | c.2403G>C (p.Trp801Cys) c.2370G>C (p.Trp790Cys) c.2415G>C (p.Trp805Cys) | |
17 | g.745640C>T | CA397503888 | GEMIN4 | c.2403G>A (p.Trp801Ter) c.2370G>A (p.Trp790Ter) c.2415G>A (p.Trp805Ter) | |
17 | g.745641C>A | CA397503890 | GEMIN4 | c.2402G>T (p.Trp801Leu) c.2369G>T (p.Trp790Leu) c.2414G>T (p.Trp805Leu) | |
17 | g.745641C>G | CA397503891 | GEMIN4 | c.2402G>C (p.Trp801Ser) c.2369G>C (p.Trp790Ser) c.2414G>C (p.Trp805Ser) | |
17 | g.745641C>T | CA397503892 | GEMIN4 | c.2402G>A (p.Trp801Ter) c.2369G>A (p.Trp790Ter) c.2414G>A (p.Trp805Ter) | |
17 | g.745642A>C | CA397503893 | GEMIN4 | c.2401T>G (p.Trp801Gly) c.2368T>G (p.Trp790Gly) c.2413T>G (p.Trp805Gly) | |
17 | g.745642A>G | CA397503894 | GEMIN4 | c.2401T>C (p.Trp801Arg) c.2368T>C (p.Trp790Arg) c.2413T>C (p.Trp805Arg) | gnomAD v4 |
17 | g.745642A>T | CA397503895 | GEMIN4 | c.2401T>A (p.Trp801Arg) c.2368T>A (p.Trp790Arg) c.2413T>A (p.Trp805Arg) | |
17 | g.745643C>A | CA397503896 | GEMIN4 | c.2400G>T (p.Glu800Asp) c.2367G>T (p.Glu789Asp) c.2412G>T (p.Glu804Asp) | |
17 | g.745643C= | CA2242474355 | GEMIN4 | c.2400G= (p.Glu800=) c.2367G= (p.Glu789=) c.2412G= (p.Glu804=) | |
17 | g.745643C>G | CA397503897 | GEMIN4 | c.2400G>C (p.Glu800Asp) c.2367G>C (p.Glu789Asp) c.2412G>C (p.Glu804Asp) | |
17 | g.745643C>T | CA8262427 | GEMIN4 | c.2400G>A (p.Glu800=) c.2367G>A (p.Glu789=) c.2412G>A (p.Glu804=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745644T>A | CA397503900 | GEMIN4 | c.2399A>T (p.Glu800Val) c.2366A>T (p.Glu789Val) c.2411A>T (p.Glu804Val) | |
17 | g.745644T>C | CA397503899 | GEMIN4 | c.2399A>G (p.Glu800Gly) c.2366A>G (p.Glu789Gly) c.2411A>G (p.Glu804Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745644T>G | CA397503898 | GEMIN4 | c.2399A>C (p.Glu800Ala) c.2366A>C (p.Glu789Ala) c.2411A>C (p.Glu804Ala) | |
17 | g.745644T= | CA2242474356 | GEMIN4 | c.2399A= (p.Glu800=) c.2366A= (p.Glu789=) c.2411A= (p.Glu804=) | |
17 | g.745645C>A | CA397503901 | GEMIN4 | c.2398G>T (p.Glu800Ter) c.2365G>T (p.Glu789Ter) c.2410G>T (p.Glu804Ter) | |
17 | g.745645C= | CA2242474357 | GEMIN4 | c.2398G= (p.Glu800=) c.2365G= (p.Glu789=) c.2410G= (p.Glu804=) | |
17 | g.745645C>G | CA397503902 | GEMIN4 | c.2398G>C (p.Glu800Gln) c.2365G>C (p.Glu789Gln) c.2410G>C (p.Glu804Gln) | |
17 | g.745645C>T | CA286713655 | GEMIN4 | c.2398G>A (p.Glu800Lys) c.2365G>A (p.Glu789Lys) c.2410G>A (p.Glu804Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.745646G>A | CA8262428 | GEMIN4 | c.2397C>T (p.Asp799=) c.2364C>T (p.Asp788=) c.2409C>T (p.Asp803=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745646G>C | CA397503903 | GEMIN4 | c.2397C>G (p.Asp799Glu) c.2364C>G (p.Asp788Glu) c.2409C>G (p.Asp803Glu) | |
17 | g.745646G= | CA2242474358 | GEMIN4 | c.2397C= (p.Asp799=) c.2364C= (p.Asp788=) c.2409C= (p.Asp803=) | |
17 | g.745646G>T | CA397503904 | GEMIN4 | c.2397C>A (p.Asp799Glu) c.2364C>A (p.Asp788Glu) c.2409C>A (p.Asp803Glu) | |
17 | g.745647T>A | CA397503905 | GEMIN4 | c.2396A>T (p.Asp799Val) c.2363A>T (p.Asp788Val) c.2408A>T (p.Asp803Val) | |
17 | g.745647T>C | CA397503906 | GEMIN4 | c.2396A>G (p.Asp799Gly) c.2363A>G (p.Asp788Gly) c.2408A>G (p.Asp803Gly) | |
17 | g.745647T>G | CA397503907 | GEMIN4 | c.2396A>C (p.Asp799Ala) c.2363A>C (p.Asp788Ala) c.2408A>C (p.Asp803Ala) | |
17 | g.745648C>A | CA397503908 | GEMIN4 | c.2395G>T (p.Asp799Tyr) c.2362G>T (p.Asp788Tyr) c.2407G>T (p.Asp803Tyr) | |
17 | g.745648C>G | CA397503909 | GEMIN4 | c.2395G>C (p.Asp799His) c.2362G>C (p.Asp788His) c.2407G>C (p.Asp803His) | |
17 | g.745648C>T | CA397503910 | GEMIN4 | c.2395G>A (p.Asp799Asn) c.2362G>A (p.Asp788Asn) c.2407G>A (p.Asp803Asn) | gnomAD v4 |
17 | g.745649T>A | CA397503912 | GEMIN4 | c.2394A>T (p.Glu798Asp) c.2361A>T (p.Glu787Asp) c.2406A>T (p.Glu802Asp) | gnomAD v4 |
17 | g.745649T>C | CA497383932 | GEMIN4 | c.2394A>G (p.Glu798=) c.2361A>G (p.Glu787=) c.2406A>G (p.Glu802=) | |
17 | g.745649T>G | CA397503911 | GEMIN4 | c.2394A>C (p.Glu798Asp) c.2361A>C (p.Glu787Asp) c.2406A>C (p.Glu802Asp) | |
17 | g.745650T>A | CA397503913 | GEMIN4 | c.2393A>T (p.Glu798Val) c.2360A>T (p.Glu787Val) c.2405A>T (p.Glu802Val) | |
17 | g.745650T>C | CA397503914 | GEMIN4 | c.2393A>G (p.Glu798Gly) c.2360A>G (p.Glu787Gly) c.2405A>G (p.Glu802Gly) | |
17 | g.745650T>G | CA397503915 | GEMIN4 | c.2393A>C (p.Glu798Ala) c.2360A>C (p.Glu787Ala) c.2405A>C (p.Glu802Ala) | |
17 | g.745651C>A | CA397503916 | GEMIN4 | c.2392G>T (p.Glu798Ter) c.2359G>T (p.Glu787Ter) c.2404G>T (p.Glu802Ter) | |
17 | g.745651C>G | CA397503917 | GEMIN4 | c.2392G>C (p.Glu798Gln) c.2359G>C (p.Glu787Gln) c.2404G>C (p.Glu802Gln) | |
17 | g.745651C>T | CA397503918 | GEMIN4 | c.2392G>A (p.Glu798Lys) c.2359G>A (p.Glu787Lys) c.2404G>A (p.Glu802Lys) | |
17 | g.745652T>A | CA497383936 | GEMIN4 | c.2391A>T (p.Ser797=) c.2358A>T (p.Ser786=) c.2403A>T (p.Ser801=) | |
17 | g.745652T>C | CA497383937 | GEMIN4 | c.2391A>G (p.Ser797=) c.2358A>G (p.Ser786=) c.2403A>G (p.Ser801=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745652T>G | CA497383939 | GEMIN4 | c.2391A>C (p.Ser797=) c.2358A>C (p.Ser786=) c.2403A>C (p.Ser801=) | |
17 | g.745652T= | CA2242474359 | GEMIN4 | c.2391A= (p.Ser797=) c.2358A= (p.Ser786=) c.2403A= (p.Ser801=) | |
17 | g.745653G>A | CA8262429 | GEMIN4 | c.2390C>T (p.Ser797Leu) c.2357C>T (p.Ser786Leu) c.2402C>T (p.Ser801Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745653G>C | CA397503919 | GEMIN4 | c.2390C>G (p.Ser797Ter) c.2357C>G (p.Ser786Ter) c.2402C>G (p.Ser801Ter) | |
17 | g.745653G= | CA2242474360 | GEMIN4 | c.2390C= (p.Ser797=) c.2357C= (p.Ser786=) c.2402C= (p.Ser801=) | |
17 | g.745653G>T | CA397503920 | GEMIN4 | c.2390C>A (p.Ser797Ter) c.2357C>A (p.Ser786Ter) c.2402C>A (p.Ser801Ter) | gnomAD v4 |
17 | g.745654A>C | CA397503921 | GEMIN4 | c.2389T>G (p.Ser797Ala) c.2356T>G (p.Ser786Ala) c.2401T>G (p.Ser801Ala) | |
17 | g.745654A>G | CA397503922 | GEMIN4 | c.2389T>C (p.Ser797Pro) c.2356T>C (p.Ser786Pro) c.2401T>C (p.Ser801Pro) | |
17 | g.745654A>T | CA397503923 | GEMIN4 | c.2389T>A (p.Ser797Thr) c.2356T>A (p.Ser786Thr) c.2401T>A (p.Ser801Thr) | |
17 | g.745655A= | CA2242474361 | GEMIN4 | c.2388T= (p.Leu796=) c.2355T= (p.Leu785=) c.2400T= (p.Leu800=) | |
17 | g.745655A>C | CA497383943 | GEMIN4 | c.2388T>G (p.Leu796=) c.2355T>G (p.Leu785=) c.2400T>G (p.Leu800=) | dbSNP |
17 | g.745655A>G | CA8262430 | GEMIN4 | c.2388T>C (p.Leu796=) c.2355T>C (p.Leu785=) c.2400T>C (p.Leu800=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745655A>T | CA497383944 | GEMIN4 | c.2388T>A (p.Leu796=) c.2355T>A (p.Leu785=) c.2400T>A (p.Leu800=) | |
17 | g.745656A>C | CA397503925 | GEMIN4 | c.2387T>G (p.Leu796Arg) c.2354T>G (p.Leu785Arg) c.2399T>G (p.Leu800Arg) | |
17 | g.745656A>G | CA397503926 | GEMIN4 | c.2387T>C (p.Leu796Pro) c.2354T>C (p.Leu785Pro) c.2399T>C (p.Leu800Pro) | |
17 | g.745656A>T | CA397503924 | GEMIN4 | c.2387T>A (p.Leu796His) c.2354T>A (p.Leu785His) c.2399T>A (p.Leu800His) | |
17 | g.745657G>A | CA397503927 | GEMIN4 | c.2386C>T (p.Leu796Phe) c.2353C>T (p.Leu785Phe) c.2398C>T (p.Leu800Phe) | |
17 | g.745657G>C | CA397503928 | GEMIN4 | c.2386C>G (p.Leu796Val) c.2353C>G (p.Leu785Val) c.2398C>G (p.Leu800Val) | |
17 | g.745657G>T | CA397503929 | GEMIN4 | c.2386C>A (p.Leu796Ile) c.2353C>A (p.Leu785Ile) c.2398C>A (p.Leu800Ile) | gnomAD v4 |
17 | g.745658C>A | CA397503930 | GEMIN4 | c.2385G>T (p.Lys795Asn) c.2352G>T (p.Lys784Asn) c.2397G>T (p.Lys799Asn) | gnomAD v4 |
17 | g.745658C>G | CA397503931 | GEMIN4 | c.2385G>C (p.Lys795Asn) c.2352G>C (p.Lys784Asn) c.2397G>C (p.Lys799Asn) | |
17 | g.745658C>T | CA497383957 | GEMIN4 | c.2385G>A (p.Lys795=) c.2352G>A (p.Lys784=) c.2397G>A (p.Lys799=) | gnomAD v4 |
17 | g.745659T>A | CA397503932 | GEMIN4 | c.2384A>T (p.Lys795Met) c.2351A>T (p.Lys784Met) c.2396A>T (p.Lys799Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745659T>C | CA397503933 | GEMIN4 | c.2384A>G (p.Lys795Arg) c.2351A>G (p.Lys784Arg) c.2396A>G (p.Lys799Arg) | |
17 | g.745659T>G | CA397503934 | GEMIN4 | c.2384A>C (p.Lys795Thr) c.2351A>C (p.Lys784Thr) c.2396A>C (p.Lys799Thr) | |
17 | g.745659T= | CA2242474362 | GEMIN4 | c.2384A= (p.Lys795=) c.2351A= (p.Lys784=) c.2396A= (p.Lys799=) | |
17 | g.745660T>A | CA397503935 | GEMIN4 | c.2383A>T (p.Lys795Ter) c.2350A>T (p.Lys784Ter) c.2395A>T (p.Lys799Ter) | |
17 | g.745660T>C | CA397503936 | GEMIN4 | c.2383A>G (p.Lys795Glu) c.2350A>G (p.Lys784Glu) c.2395A>G (p.Lys799Glu) | |
17 | g.745660T>G | CA397503937 | GEMIN4 | c.2383A>C (p.Lys795Gln) c.2350A>C (p.Lys784Gln) c.2395A>C (p.Lys799Gln) | |
17 | g.745661A= | CA2242474363 | GEMIN4 | c.2382T= (p.Cys794=) c.2349T= (p.Cys783=) c.2394T= (p.Cys798=) | |
17 | g.745661A>C | CA397503938 | GEMIN4 | c.2382T>G (p.Cys794Trp) c.2349T>G (p.Cys783Trp) c.2394T>G (p.Cys798Trp) | |
17 | g.745661A>G | CA497383958 | GEMIN4 | c.2382T>C (p.Cys794=) c.2349T>C (p.Cys783=) c.2394T>C (p.Cys798=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745661A>T | CA397503939 | GEMIN4 | c.2382T>A (p.Cys794Ter) c.2349T>A (p.Cys783Ter) c.2394T>A (p.Cys798Ter) | |
17 | g.745662C>A | CA397503941 | GEMIN4 | c.2381G>T (p.Cys794Phe) c.2348G>T (p.Cys783Phe) c.2393G>T (p.Cys798Phe) | |
17 | g.745662C= | CA2242474364 | GEMIN4 | c.2381G= (p.Cys794=) c.2348G= (p.Cys783=) c.2393G= (p.Cys798=) | |
17 | g.745662C>G | CA8262431 | GEMIN4 | c.2381G>C (p.Cys794Ser) c.2348G>C (p.Cys783Ser) c.2393G>C (p.Cys798Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745662C>T | CA397503940 | GEMIN4 | c.2381G>A (p.Cys794Tyr) c.2348G>A (p.Cys783Tyr) c.2393G>A (p.Cys798Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745663A>C | CA397503942 | GEMIN4 | c.2380T>G (p.Cys794Gly) c.2347T>G (p.Cys783Gly) c.2392T>G (p.Cys798Gly) | |
17 | g.745663A>G | CA397503943 | GEMIN4 | c.2380T>C (p.Cys794Arg) c.2347T>C (p.Cys783Arg) c.2392T>C (p.Cys798Arg) | |
17 | g.745663A>T | CA397503944 | GEMIN4 | c.2380T>A (p.Cys794Ser) c.2347T>A (p.Cys783Ser) c.2392T>A (p.Cys798Ser) | |
17 | g.745664G>A | CA497383980 | GEMIN4 | c.2379C>T (p.Ile793=) c.2346C>T (p.Ile782=) c.2391C>T (p.Ile797=) | |
17 | g.745664G>C | CA397503945 | GEMIN4 | c.2379C>G (p.Ile793Met) c.2346C>G (p.Ile782Met) c.2391C>G (p.Ile797Met) | |
17 | g.745664G>T | CA497383981 | GEMIN4 | c.2379C>A (p.Ile793=) c.2346C>A (p.Ile782=) c.2391C>A (p.Ile797=) | gnomAD v4 |
17 | g.745665A>C | CA397503946 | GEMIN4 | c.2378T>G (p.Ile793Ser) c.2345T>G (p.Ile782Ser) c.2390T>G (p.Ile797Ser) | |
17 | g.745665A>G | CA397503947 | GEMIN4 | c.2378T>C (p.Ile793Thr) c.2345T>C (p.Ile782Thr) c.2390T>C (p.Ile797Thr) | |
17 | g.745665A>T | CA397503948 | GEMIN4 | c.2378T>A (p.Ile793Asn) c.2345T>A (p.Ile782Asn) c.2390T>A (p.Ile797Asn) | |
17 | g.745666T>A | CA397503949 | GEMIN4 | c.2377A>T (p.Ile793Phe) c.2344A>T (p.Ile782Phe) c.2389A>T (p.Ile797Phe) | |
17 | g.745666T>C | CA397503950 | GEMIN4 | c.2377A>G (p.Ile793Val) c.2344A>G (p.Ile782Val) c.2389A>G (p.Ile797Val) | |
17 | g.745666T>G | CA397503951 | GEMIN4 | c.2377A>C (p.Ile793Leu) c.2344A>C (p.Ile782Leu) c.2389A>C (p.Ile797Leu) | |
17 | g.745667C>A | CA397503952 | GEMIN4 | c.2376G>T (p.Glu792Asp) c.2343G>T (p.Glu781Asp) c.2388G>T (p.Glu796Asp) | gnomAD v4 |
17 | g.745667C>G | CA397503953 | GEMIN4 | c.2376G>C (p.Glu792Asp) c.2343G>C (p.Glu781Asp) c.2388G>C (p.Glu796Asp) | |
17 | g.745667C>T | CA497383993 | GEMIN4 | c.2376G>A (p.Glu792=) c.2343G>A (p.Glu781=) c.2388G>A (p.Glu796=) | |
17 | g.745668T>A | CA397503954 | GEMIN4 | c.2375A>T (p.Glu792Val) c.2342A>T (p.Glu781Val) c.2387A>T (p.Glu796Val) | |
17 | g.745668T>C | CA397503955 | GEMIN4 | c.2375A>G (p.Glu792Gly) c.2342A>G (p.Glu781Gly) c.2387A>G (p.Glu796Gly) | gnomAD v4 |
17 | g.745668T>G | CA397503956 | GEMIN4 | c.2375A>C (p.Glu792Ala) c.2342A>C (p.Glu781Ala) c.2387A>C (p.Glu796Ala) | |
17 | g.745669C>A | CA397503958 | GEMIN4 | c.2374G>T (p.Glu792Ter) c.2341G>T (p.Glu781Ter) c.2386G>T (p.Glu796Ter) | |
17 | g.745669C>G | CA397503959 | GEMIN4 | c.2374G>C (p.Glu792Gln) c.2341G>C (p.Glu781Gln) c.2386G>C (p.Glu796Gln) | |
17 | g.745669C>T | CA397503957 | GEMIN4 | c.2374G>A (p.Glu792Lys) c.2341G>A (p.Glu781Lys) c.2386G>A (p.Glu796Lys) | |
17 | g.745670A>C | CA397503960 | GEMIN4 | c.2373T>G (p.Phe791Leu) c.2340T>G (p.Phe780Leu) c.2385T>G (p.Phe795Leu) | |
17 | g.745670A>G | CA497384003 | GEMIN4 | c.2373T>C (p.Phe791=) c.2340T>C (p.Phe780=) c.2385T>C (p.Phe795=) | |
17 | g.745670A>T | CA397503961 | GEMIN4 | c.2373T>A (p.Phe791Leu) c.2340T>A (p.Phe780Leu) c.2385T>A (p.Phe795Leu) | gnomAD v4 |
17 | g.745674del | CA2635152822 | GEMIN4 | c.2373del (p.Phe791LeufsTer?) c.2340del (p.Phe780LeufsTer?) c.2385del (p.Phe795LeufsTer?) | gnomAD v4 |
17 | g.745673_745674del | CA2635152826 | GEMIN4 | c.2372_2373del (p.Phe791Ter) c.2339_2340del (p.Phe780Ter) c.2384_2385del (p.Phe795Ter) | gnomAD v4 |
17 | g.745670_745671insTGAGTGCTTTGCCTCCCGATATGCCAGAGCTTGTGGTCC | CA2808150947 | GEMIN4 | c.2372_2373insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe791delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) c.2339_2340insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe780delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) c.2384_2385insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe795delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis) | |
17 | g.745671A>C | CA397503962 | GEMIN4 | c.2372T>G (p.Phe791Cys) c.2339T>G (p.Phe780Cys) c.2384T>G (p.Phe795Cys) | gnomAD v4 |
17 | g.745671A>G | CA397503963 | GEMIN4 | c.2372T>C (p.Phe791Ser) c.2339T>C (p.Phe780Ser) c.2384T>C (p.Phe795Ser) | gnomAD v4 |
17 | g.745671A>T | CA397503964 | GEMIN4 | c.2372T>A (p.Phe791Tyr) c.2339T>A (p.Phe780Tyr) c.2384T>A (p.Phe795Tyr) | |
17 | g.745672A= | CA2242474365 | GEMIN4 | c.2371T= (p.Phe791=) c.2338T= (p.Phe780=) c.2383T= (p.Phe795=) | |
17 | g.745672A>C | CA397503965 | GEMIN4 | c.2371T>G (p.Phe791Val) c.2338T>G (p.Phe780Val) c.2383T>G (p.Phe795Val) | |
17 | g.745672A>G | CA8262432 | GEMIN4 | c.2371T>C (p.Phe791Leu) c.2338T>C (p.Phe780Leu) c.2383T>C (p.Phe795Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745672A>T | CA397503966 | GEMIN4 | c.2371T>A (p.Phe791Ile) c.2338T>A (p.Phe780Ile) c.2383T>A (p.Phe795Ile) | |
17 | g.745673A= | CA2242474366 | GEMIN4 | c.2370T= (p.Leu790=) c.2337T= (p.Leu779=) c.2382T= (p.Leu794=) | |
17 | g.745673A>C | CA8262433 | GEMIN4 | c.2370T>G (p.Leu790=) c.2337T>G (p.Leu779=) c.2382T>G (p.Leu794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745673A>G | CA497384012 | GEMIN4 | c.2370T>C (p.Leu790=) c.2337T>C (p.Leu779=) c.2382T>C (p.Leu794=) | |
17 | g.745673A>T | CA497384013 | GEMIN4 | c.2370T>A (p.Leu790=) c.2337T>A (p.Leu779=) c.2382T>A (p.Leu794=) | |
17 | g.745674A>C | CA397503967 | GEMIN4 | c.2369T>G (p.Leu790Arg) c.2336T>G (p.Leu779Arg) c.2381T>G (p.Leu794Arg) | |
17 | g.745674A>G | CA397503968 | GEMIN4 | c.2369T>C (p.Leu790Pro) c.2336T>C (p.Leu779Pro) c.2381T>C (p.Leu794Pro) | |
17 | g.745674A>T | CA397503969 | GEMIN4 | c.2369T>A (p.Leu790His) c.2336T>A (p.Leu779His) c.2381T>A (p.Leu794His) | |
17 | g.745675G>A | CA397503971 | GEMIN4 | c.2368C>T (p.Leu790Phe) c.2335C>T (p.Leu779Phe) c.2380C>T (p.Leu794Phe) | gnomAD v4 |
17 | g.745675G>C | CA397503972 | GEMIN4 | c.2368C>G (p.Leu790Val) c.2335C>G (p.Leu779Val) c.2380C>G (p.Leu794Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745675G= | CA2242474367 | GEMIN4 | c.2368C= (p.Leu790=) c.2335C= (p.Leu779=) c.2380C= (p.Leu794=) | |
17 | g.745675G>T | CA397503970 | GEMIN4 | c.2368C>A (p.Leu790Ile) c.2335C>A (p.Leu779Ile) c.2380C>A (p.Leu794Ile) | |
17 | g.745676T>A | CA497384026 | GEMIN4 | c.2367A>T (p.Thr789=) c.2334A>T (p.Thr778=) c.2379A>T (p.Thr793=) | |
17 | g.745676T>C | CA8262434 | GEMIN4 | c.2367A>G (p.Thr789=) c.2334A>G (p.Thr778=) c.2379A>G (p.Thr793=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745676T>G | CA497384029 | GEMIN4 | c.2367A>C (p.Thr789=) c.2334A>C (p.Thr778=) c.2379A>C (p.Thr793=) | |
17 | g.745676T= | CA2242474368 | GEMIN4 | c.2367A= (p.Thr789=) c.2334A= (p.Thr778=) c.2379A= (p.Thr793=) | |
17 | g.745677G>A | CA397503973 | GEMIN4 | c.2366C>T (p.Thr789Ile) c.2333C>T (p.Thr778Ile) c.2378C>T (p.Thr793Ile) | gnomAD v4 |
17 | g.745677G>C | CA397503974 | GEMIN4 | c.2366C>G (p.Thr789Arg) c.2333C>G (p.Thr778Arg) c.2378C>G (p.Thr793Arg) | |
17 | g.745677G>T | CA397503975 | GEMIN4 | c.2366C>A (p.Thr789Lys) c.2333C>A (p.Thr778Lys) c.2378C>A (p.Thr793Lys) | |
17 | g.745678T>A | CA397503978 | GEMIN4 | c.2365A>T (p.Thr789Ser) c.2332A>T (p.Thr778Ser) c.2377A>T (p.Thr793Ser) | |
17 | g.745678T>C | CA397503977 | GEMIN4 | c.2365A>G (p.Thr789Ala) c.2332A>G (p.Thr778Ala) c.2377A>G (p.Thr793Ala) | |
17 | g.745678T>G | CA397503976 | GEMIN4 | c.2365A>C (p.Thr789Pro) c.2332A>C (p.Thr778Pro) c.2377A>C (p.Thr793Pro) | |
17 | g.745679G>A | CA497384039 | GEMIN4 | c.2364C>T (p.Ala788=) c.2331C>T (p.Ala777=) c.2376C>T (p.Ala792=) | dbSNP gnomAD v2 |
17 | g.745679G>C | CA497384040 | GEMIN4 | c.2364C>G (p.Ala788=) c.2331C>G (p.Ala777=) c.2376C>G (p.Ala792=) | |
17 | g.745679G= | CA2242474369 | GEMIN4 | c.2364C= (p.Ala788=) c.2331C= (p.Ala777=) c.2376C= (p.Ala792=) | |
17 | g.745679G>T | CA497384041 | GEMIN4 | c.2364C>A (p.Ala788=) c.2331C>A (p.Ala777=) c.2376C>A (p.Ala792=) | |
17 | g.745680G>A | CA286713656 | GEMIN4 | c.2363C>T (p.Ala788Val) c.2330C>T (p.Ala777Val) c.2375C>T (p.Ala792Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745680G>C | CA397503979 | GEMIN4 | c.2363C>G (p.Ala788Gly) c.2330C>G (p.Ala777Gly) c.2375C>G (p.Ala792Gly) | |
17 | g.745680G= | CA2242474370 | GEMIN4 | c.2363C= (p.Ala788=) c.2330C= (p.Ala777=) c.2375C= (p.Ala792=) | |
17 | g.745680G>T | CA397503980 | GEMIN4 | c.2363C>A (p.Ala788Asp) c.2330C>A (p.Ala777Asp) c.2375C>A (p.Ala792Asp) | gnomAD v4 |
17 | g.745681C>A | CA397503981 | GEMIN4 | c.2362G>T (p.Ala788Ser) c.2329G>T (p.Ala777Ser) c.2374G>T (p.Ala792Ser) | |
17 | g.745681C= | CA2242474371 | GEMIN4 | c.2362G= (p.Ala788=) c.2329G= (p.Ala777=) c.2374G= (p.Ala792=) | |
17 | g.745681C>G | CA397503982 | GEMIN4 | c.2362G>C (p.Ala788Pro) c.2329G>C (p.Ala777Pro) c.2374G>C (p.Ala792Pro) | dbSNP |
17 | g.745681C>T | CA397503983 | GEMIN4 | c.2362G>A (p.Ala788Thr) c.2329G>A (p.Ala777Thr) c.2374G>A (p.Ala792Thr) | |
17 | g.745682T>A | CA497384045 | GEMIN4 | c.2361A>T (p.Pro787=) c.2328A>T (p.Pro776=) c.2373A>T (p.Pro791=) | |
17 | g.745682T>C | CA497384047 | GEMIN4 | c.2361A>G (p.Pro787=) c.2328A>G (p.Pro776=) c.2373A>G (p.Pro791=) | |
17 | g.745682T>G | CA497384046 | GEMIN4 | c.2361A>C (p.Pro787=) c.2328A>C (p.Pro776=) c.2373A>C (p.Pro791=) | |
17 | g.745683G>A | CA397503984 | GEMIN4 | c.2360C>T (p.Pro787Leu) c.2327C>T (p.Pro776Leu) c.2372C>T (p.Pro791Leu) | |
17 | g.745683G>C | CA397503986 | GEMIN4 | c.2360C>G (p.Pro787Arg) c.2327C>G (p.Pro776Arg) c.2372C>G (p.Pro791Arg) | |
17 | g.745683G>T | CA397503985 | GEMIN4 | c.2360C>A (p.Pro787Gln) c.2327C>A (p.Pro776Gln) c.2372C>A (p.Pro791Gln) | gnomAD v4 |