Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745598_745608dupCA2635152737GEMIN4c.2435_2445dup (p.Leu816AlafsTer?)
c.2402_2412dup (p.Leu805AlafsTer?)
c.2447_2457dup (p.Leu820AlafsTer?)
 gnomAD v4
17g.745604delCA2635152745GEMIN4c.2442del (p.Leu815SerfsTer?)
c.2409del (p.Leu804SerfsTer?)
c.2454del (p.Leu819SerfsTer?)
 gnomAD v4
17g.745602C>ACA8262419GEMIN4c.2441G>T (p.Gly814Val)
c.2408G>T (p.Gly803Val)
c.2453G>T (p.Gly818Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745602C=CA2242474335GEMIN4c.2441G= (p.Gly814=)
c.2408G= (p.Gly803=)
c.2453G= (p.Gly818=)
17g.745602C>GCA397503809GEMIN4c.2441G>C (p.Gly814Ala)
c.2408G>C (p.Gly803Ala)
c.2453G>C (p.Gly818Ala)
17g.745602C>TCA8262418GEMIN4c.2441G>A (p.Gly814Glu)
c.2408G>A (p.Gly803Glu)
c.2453G>A (p.Gly818Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745603C>ACA397503811GEMIN4c.2440G>T (p.Gly814Trp)
c.2407G>T (p.Gly803Trp)
c.2452G>T (p.Gly818Trp)
17g.745603C>GCA397503812GEMIN4c.2440G>C (p.Gly814Arg)
c.2407G>C (p.Gly803Arg)
c.2452G>C (p.Gly818Arg)
17g.745603C>TCA397503810GEMIN4c.2440G>A (p.Gly814Arg)
c.2407G>A (p.Gly803Arg)
c.2452G>A (p.Gly818Arg)
 gnomAD v4
17g.745604C>ACA497383817GEMIN4c.2439G>T (p.Thr813=)
c.2406G>T (p.Thr802=)
c.2451G>T (p.Thr817=)
 gnomAD v4
17g.745604C=CA2242474336GEMIN4c.2439G= (p.Thr813=)
c.2406G= (p.Thr802=)
c.2451G= (p.Thr817=)
17g.745604C>GCA497383818GEMIN4c.2439G>C (p.Thr813=)
c.2406G>C (p.Thr802=)
c.2451G>C (p.Thr817=)
 gnomAD v4
17g.745604C>TCA8262420GEMIN4c.2439G>A (p.Thr813=)
c.2406G>A (p.Thr802=)
c.2451G>A (p.Thr817=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745605G>ACA8262421GEMIN4c.2438C>T (p.Thr813Met)
c.2405C>T (p.Thr802Met)
c.2450C>T (p.Thr817Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745605G>CCA397503814GEMIN4c.2438C>G (p.Thr813Arg)
c.2405C>G (p.Thr802Arg)
c.2450C>G (p.Thr817Arg)
17g.745605G=CA2242474337GEMIN4c.2438C= (p.Thr813=)
c.2405C= (p.Thr802=)
c.2450C= (p.Thr817=)
17g.745605G>TCA397503813GEMIN4c.2438C>A (p.Thr813Lys)
c.2405C>A (p.Thr802Lys)
c.2450C>A (p.Thr817Lys)
17g.745606T>ACA397503815GEMIN4c.2437A>T (p.Thr813Ser)
c.2404A>T (p.Thr802Ser)
c.2449A>T (p.Thr817Ser)
17g.745606T>CCA397503817GEMIN4c.2437A>G (p.Thr813Ala)
c.2404A>G (p.Thr802Ala)
c.2449A>G (p.Thr817Ala)
17g.745606T>GCA397503816GEMIN4c.2437A>C (p.Thr813Pro)
c.2404A>C (p.Thr802Pro)
c.2449A>C (p.Thr817Pro)
17g.745607G>ACA497383821GEMIN4c.2436C>T (p.Gly812=)
c.2403C>T (p.Gly801=)
c.2448C>T (p.Gly816=)
17g.745607G>CCA8262422GEMIN4c.2436C>G (p.Gly812=)
c.2403C>G (p.Gly801=)
c.2448C>G (p.Gly816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745607G=CA2242474338GEMIN4c.2436C= (p.Gly812=)
c.2403C= (p.Gly801=)
c.2448C= (p.Gly816=)
17g.745607G>TCA497383822GEMIN4c.2436C>A (p.Gly812=)
c.2403C>A (p.Gly801=)
c.2448C>A (p.Gly816=)
17g.745608C>ACA397503818GEMIN4c.2435G>T (p.Gly812Val)
c.2402G>T (p.Gly801Val)
c.2447G>T (p.Gly816Val)
17g.745608C>GCA397503819GEMIN4c.2435G>C (p.Gly812Ala)
c.2402G>C (p.Gly801Ala)
c.2447G>C (p.Gly816Ala)
17g.745608C>TCA397503820GEMIN4c.2435G>A (p.Gly812Asp)
c.2402G>A (p.Gly801Asp)
c.2447G>A (p.Gly816Asp)
17g.745610_745620dupCA2635152767GEMIN4c.2425_2435dup (p.Leu816AlafsTer?)
c.2392_2402dup (p.Leu805AlafsTer?)
c.2437_2447dup (p.Leu820AlafsTer?)
 gnomAD v4
17g.745609C>ACA397503821GEMIN4c.2434G>T (p.Gly812Cys)
c.2401G>T (p.Gly801Cys)
c.2446G>T (p.Gly816Cys)
17g.745609C=CA2242474339GEMIN4c.2434G= (p.Gly812=)
c.2401G= (p.Gly801=)
c.2446G= (p.Gly816=)
17g.745609C>GCA397503822GEMIN4c.2434G>C (p.Gly812Arg)
c.2401G>C (p.Gly801Arg)
c.2446G>C (p.Gly816Arg)
 dbSNP
17g.745609C>TCA397503823GEMIN4c.2434G>A (p.Gly812Ser)
c.2401G>A (p.Gly801Ser)
c.2446G>A (p.Gly816Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745610A>CCA497383827GEMIN4c.2433T>G (p.Ala811=)
c.2400T>G (p.Ala800=)
c.2445T>G (p.Ala815=)
17g.745610A>GCA497383828GEMIN4c.2433T>C (p.Ala811=)
c.2400T>C (p.Ala800=)
c.2445T>C (p.Ala815=)
17g.745610A>TCA497383829GEMIN4c.2433T>A (p.Ala811=)
c.2400T>A (p.Ala800=)
c.2445T>A (p.Ala815=)
17g.745611G>ACA397503824GEMIN4c.2432C>T (p.Ala811Val)
c.2399C>T (p.Ala800Val)
c.2444C>T (p.Ala815Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745611G>CCA397503825GEMIN4c.2432C>G (p.Ala811Gly)
c.2399C>G (p.Ala800Gly)
c.2444C>G (p.Ala815Gly)
17g.745611G=CA2242474340GEMIN4c.2432C= (p.Ala811=)
c.2399C= (p.Ala800=)
c.2444C= (p.Ala815=)
17g.745611G>TCA397503826GEMIN4c.2432C>A (p.Ala811Asp)
c.2399C>A (p.Ala800Asp)
c.2444C>A (p.Ala815Asp)
17g.745612C>ACA397503829GEMIN4c.2431G>T (p.Ala811Ser)
c.2398G>T (p.Ala800Ser)
c.2443G>T (p.Ala815Ser)
17g.745612C>GCA397503828GEMIN4c.2431G>C (p.Ala811Pro)
c.2398G>C (p.Ala800Pro)
c.2443G>C (p.Ala815Pro)
17g.745612C>TCA397503827GEMIN4c.2431G>A (p.Ala811Thr)
c.2398G>A (p.Ala800Thr)
c.2443G>A (p.Ala815Thr)
17g.745613C>ACA497383837GEMIN4c.2430G>T (p.Gly810=)
c.2397G>T (p.Gly799=)
c.2442G>T (p.Gly814=)
17g.745613C>GCA497383839GEMIN4c.2430G>C (p.Gly810=)
c.2397G>C (p.Gly799=)
c.2442G>C (p.Gly814=)
17g.745613C>TCA497383842GEMIN4c.2430G>A (p.Gly810=)
c.2397G>A (p.Gly799=)
c.2442G>A (p.Gly814=)
17g.745614C>ACA397503830GEMIN4c.2429G>T (p.Gly810Val)
c.2396G>T (p.Gly799Val)
c.2441G>T (p.Gly814Val)
17g.745614C>GCA397503831GEMIN4c.2429G>C (p.Gly810Ala)
c.2396G>C (p.Gly799Ala)
c.2441G>C (p.Gly814Ala)
17g.745614C>TCA397503832GEMIN4c.2429G>A (p.Gly810Glu)
c.2396G>A (p.Gly799Glu)
c.2441G>A (p.Gly814Glu)
 COSMIC COSMIC
17g.745615C>ACA397503833GEMIN4c.2428G>T (p.Gly810Trp)
c.2395G>T (p.Gly799Trp)
c.2440G>T (p.Gly814Trp)
17g.745615C=CA2242474341GEMIN4c.2428G= (p.Gly810=)
c.2395G= (p.Gly799=)
c.2440G= (p.Gly814=)
17g.745615C>GCA397503834GEMIN4c.2428G>C (p.Gly810Arg)
c.2395G>C (p.Gly799Arg)
c.2440G>C (p.Gly814Arg)
17g.745615C>TCA8262423GEMIN4c.2428G>A (p.Gly810Arg)
c.2395G>A (p.Gly799Arg)
c.2440G>A (p.Gly814Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745616G>ACA8262424GEMIN4c.2427C>T (p.Tyr809=)
c.2394C>T (p.Tyr798=)
c.2439C>T (p.Tyr813=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745616G>CCA397503835GEMIN4c.2427C>G (p.Tyr809Ter)
c.2394C>G (p.Tyr798Ter)
c.2439C>G (p.Tyr813Ter)
 gnomAD v4
17g.745616G=CA2242474342GEMIN4c.2427C= (p.Tyr809=)
c.2394C= (p.Tyr798=)
c.2439C= (p.Tyr813=)
17g.745616G>TCA397503836GEMIN4c.2427C>A (p.Tyr809Ter)
c.2394C>A (p.Tyr798Ter)
c.2439C>A (p.Tyr813Ter)
17g.745617T>ACA397503837GEMIN4c.2426A>T (p.Tyr809Phe)
c.2393A>T (p.Tyr798Phe)
c.2438A>T (p.Tyr813Phe)
17g.745617T>CCA397503838GEMIN4c.2426A>G (p.Tyr809Cys)
c.2393A>G (p.Tyr798Cys)
c.2438A>G (p.Tyr813Cys)
17g.745617T>GCA397503839GEMIN4c.2426A>C (p.Tyr809Ser)
c.2393A>C (p.Tyr798Ser)
c.2438A>C (p.Tyr813Ser)
 ClinVar
17g.745618A>CCA397503842GEMIN4c.2425T>G (p.Tyr809Asp)
c.2392T>G (p.Tyr798Asp)
c.2437T>G (p.Tyr813Asp)
17g.745618A>GCA397503841GEMIN4c.2425T>C (p.Tyr809His)
c.2392T>C (p.Tyr798His)
c.2437T>C (p.Tyr813His)
17g.745618A>TCA397503840GEMIN4c.2425T>A (p.Tyr809Asn)
c.2392T>A (p.Tyr798Asn)
c.2437T>A (p.Tyr813Asn)
17g.745619C>ACA497383852GEMIN4c.2424G>T (p.Gly808=)
c.2391G>T (p.Gly797=)
c.2436G>T (p.Gly812=)
17g.745619C=CA2242474343GEMIN4c.2424G= (p.Gly808=)
c.2391G= (p.Gly797=)
c.2436G= (p.Gly812=)
17g.745619C>GCA497383855GEMIN4c.2424G>C (p.Gly808=)
c.2391G>C (p.Gly797=)
c.2436G>C (p.Gly812=)
 gnomAD v4
17g.745619C>TCA8262425GEMIN4c.2424G>A (p.Gly808=)
c.2391G>A (p.Gly797=)
c.2436G>A (p.Gly812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745620C>ACA397503843GEMIN4c.2423G>T (p.Gly808Val)
c.2390G>T (p.Gly797Val)
c.2435G>T (p.Gly812Val)
 gnomAD v4
17g.745620C>GCA397503844GEMIN4c.2423G>C (p.Gly808Ala)
c.2390G>C (p.Gly797Ala)
c.2435G>C (p.Gly812Ala)
17g.745620C>TCA397503845GEMIN4c.2423G>A (p.Gly808Glu)
c.2390G>A (p.Gly797Glu)
c.2435G>A (p.Gly812Glu)
 gnomAD v4
17g.745621C>ACA397503846GEMIN4c.2422G>T (p.Gly808Trp)
c.2389G>T (p.Gly797Trp)
c.2434G>T (p.Gly812Trp)
17g.745621C=CA2242474344GEMIN4c.2422G= (p.Gly808=)
c.2389G= (p.Gly797=)
c.2434G= (p.Gly812=)
17g.745621C>GCA397503847GEMIN4c.2422G>C (p.Gly808Arg)
c.2389G>C (p.Gly797Arg)
c.2434G>C (p.Gly812Arg)
 dbSNP
17g.745621C>TCA397503848GEMIN4c.2422G>A (p.Gly808Arg)
c.2389G>A (p.Gly797Arg)
c.2434G>A (p.Gly812Arg)
17g.745622T>ACA497383861GEMIN4c.2421A>T (p.Pro807=)
c.2388A>T (p.Pro796=)
c.2433A>T (p.Pro811=)
17g.745622T>CCA497383863GEMIN4c.2421A>G (p.Pro807=)
c.2388A>G (p.Pro796=)
c.2433A>G (p.Pro811=)
 gnomAD v4
17g.745622T>GCA497383860GEMIN4c.2421A>C (p.Pro807=)
c.2388A>C (p.Pro796=)
c.2433A>C (p.Pro811=)
17g.745623G>ACA397503851GEMIN4c.2420C>T (p.Pro807Leu)
c.2387C>T (p.Pro796Leu)
c.2432C>T (p.Pro811Leu)
 gnomAD v4
17g.745623G>CCA397503849GEMIN4c.2420C>G (p.Pro807Arg)
c.2387C>G (p.Pro796Arg)
c.2432C>G (p.Pro811Arg)
17g.745623G>TCA397503850GEMIN4c.2420C>A (p.Pro807Gln)
c.2387C>A (p.Pro796Gln)
c.2432C>A (p.Pro811Gln)
17g.745624G>ACA397503852GEMIN4c.2419C>T (p.Pro807Ser)
c.2386C>T (p.Pro796Ser)
c.2431C>T (p.Pro811Ser)
17g.745624G>CCA286713654GEMIN4c.2419C>G (p.Pro807Ala)
c.2386C>G (p.Pro796Ala)
c.2431C>G (p.Pro811Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745624G=CA2242474345GEMIN4c.2419C= (p.Pro807=)
c.2386C= (p.Pro796=)
c.2431C= (p.Pro811=)
17g.745624G>TCA397503853GEMIN4c.2419C>A (p.Pro807Thr)
c.2386C>A (p.Pro796Thr)
c.2431C>A (p.Pro811Thr)
17g.745625G>ACA497383869GEMIN4c.2418C>T (p.His806=)
c.2385C>T (p.His795=)
c.2430C>T (p.His810=)
 dbSNP gnomAD v2
17g.745625G>CCA397503854GEMIN4c.2418C>G (p.His806Gln)
c.2385C>G (p.His795Gln)
c.2430C>G (p.His810Gln)
17g.745625G=CA2242474346GEMIN4c.2418C= (p.His806=)
c.2385C= (p.His795=)
c.2430C= (p.His810=)
17g.745625G>TCA397503855GEMIN4c.2418C>A (p.His806Gln)
c.2385C>A (p.His795Gln)
c.2430C>A (p.His810Gln)
17g.745626T>ACA397503856GEMIN4c.2417A>T (p.His806Leu)
c.2384A>T (p.His795Leu)
c.2429A>T (p.His810Leu)
17g.745626T>CCA397503858GEMIN4c.2417A>G (p.His806Arg)
c.2384A>G (p.His795Arg)
c.2429A>G (p.His810Arg)
17g.745626T>GCA397503857GEMIN4c.2417A>C (p.His806Pro)
c.2384A>C (p.His795Pro)
c.2429A>C (p.His810Pro)
17g.745627G>ACA397503859GEMIN4c.2416C>T (p.His806Tyr)
c.2383C>T (p.His795Tyr)
c.2428C>T (p.His810Tyr)
 dbSNP
17g.745627G>CCA397503860GEMIN4c.2416C>G (p.His806Asp)
c.2383C>G (p.His795Asp)
c.2428C>G (p.His810Asp)
17g.745627G=CA2242474347GEMIN4c.2416C= (p.His806=)
c.2383C= (p.His795=)
c.2428C= (p.His810=)
17g.745627G>TCA397503861GEMIN4c.2416C>A (p.His806Asn)
c.2383C>A (p.His795Asn)
c.2428C>A (p.His810Asn)
17g.745628G>ACA497383875GEMIN4c.2415C>T (p.Ala805=)
c.2382C>T (p.Ala794=)
c.2427C>T (p.Ala809=)
 dbSNP
17g.745628G>CCA497383873GEMIN4c.2415C>G (p.Ala805=)
c.2382C>G (p.Ala794=)
c.2427C>G (p.Ala809=)
17g.745628G=CA2242474348GEMIN4c.2415C= (p.Ala805=)
c.2382C= (p.Ala794=)
c.2427C= (p.Ala809=)
17g.745628G>TCA497383871GEMIN4c.2415C>A (p.Ala805=)
c.2382C>A (p.Ala794=)
c.2427C>A (p.Ala809=)
 gnomAD v4
17g.745629G>ACA397503862GEMIN4c.2414C>T (p.Ala805Val)
c.2381C>T (p.Ala794Val)
c.2426C>T (p.Ala809Val)
 dbSNP gnomAD v2
17g.745629G>CCA397503863GEMIN4c.2414C>G (p.Ala805Gly)
c.2381C>G (p.Ala794Gly)
c.2426C>G (p.Ala809Gly)
17g.745629G=CA2242474349GEMIN4c.2414C= (p.Ala805=)
c.2381C= (p.Ala794=)
c.2426C= (p.Ala809=)
17g.745629G>TCA397503864GEMIN4c.2414C>A (p.Ala805Asp)
c.2381C>A (p.Ala794Asp)
c.2426C>A (p.Ala809Asp)
 gnomAD v4
17g.745630C>ACA397503865GEMIN4c.2413G>T (p.Ala805Ser)
c.2380G>T (p.Ala794Ser)
c.2425G>T (p.Ala809Ser)
 gnomAD v4
17g.745630C=CA2242474350GEMIN4c.2413G= (p.Ala805=)
c.2380G= (p.Ala794=)
c.2425G= (p.Ala809=)
17g.745630C>GCA397503866GEMIN4c.2413G>C (p.Ala805Pro)
c.2380G>C (p.Ala794Pro)
c.2425G>C (p.Ala809Pro)
17g.745630C>TCA8262426GEMIN4c.2413G>A (p.Ala805Thr)
c.2380G>A (p.Ala794Thr)
c.2425G>A (p.Ala809Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745631C>ACA397503867GEMIN4c.2412G>T (p.Gln804His)
c.2379G>T (p.Gln793His)
c.2424G>T (p.Gln808His)
 gnomAD v4
17g.745631C=CA2242474351GEMIN4c.2412G= (p.Gln804=)
c.2379G= (p.Gln793=)
c.2424G= (p.Gln808=)
17g.745631C>GCA397503868GEMIN4c.2412G>C (p.Gln804His)
c.2379G>C (p.Gln793His)
c.2424G>C (p.Gln808His)
17g.745631C>TCA497383886GEMIN4c.2412G>A (p.Gln804=)
c.2379G>A (p.Gln793=)
c.2424G>A (p.Gln808=)
 dbSNP gnomAD v4
17g.745632T>ACA397503870GEMIN4c.2411A>T (p.Gln804Leu)
c.2378A>T (p.Gln793Leu)
c.2423A>T (p.Gln808Leu)
17g.745632T>CCA397503871GEMIN4c.2411A>G (p.Gln804Arg)
c.2378A>G (p.Gln793Arg)
c.2423A>G (p.Gln808Arg)
 COSMIC COSMIC
17g.745632T>GCA397503869GEMIN4c.2411A>C (p.Gln804Pro)
c.2378A>C (p.Gln793Pro)
c.2423A>C (p.Gln808Pro)
 gnomAD v4
17g.745633G>ACA397503872GEMIN4c.2410C>T (p.Gln804Ter)
c.2377C>T (p.Gln793Ter)
c.2422C>T (p.Gln808Ter)
17g.745633G>CCA397503874GEMIN4c.2410C>G (p.Gln804Glu)
c.2377C>G (p.Gln793Glu)
c.2422C>G (p.Gln808Glu)
 gnomAD v4
17g.745633G>TCA397503873GEMIN4c.2410C>A (p.Gln804Lys)
c.2377C>A (p.Gln793Lys)
c.2422C>A (p.Gln808Lys)
17g.745634G>ACA497383890GEMIN4c.2409C>T (p.Ser803=)
c.2376C>T (p.Ser792=)
c.2421C>T (p.Ser807=)
 gnomAD v4
17g.745634G>CCA497383891GEMIN4c.2409C>G (p.Ser803=)
c.2376C>G (p.Ser792=)
c.2421C>G (p.Ser807=)
17g.745634G>TCA497383889GEMIN4c.2409C>A (p.Ser803=)
c.2376C>A (p.Ser792=)
c.2421C>A (p.Ser807=)
17g.745635G>ACA397503875GEMIN4c.2408C>T (p.Ser803Phe)
c.2375C>T (p.Ser792Phe)
c.2420C>T (p.Ser807Phe)
 gnomAD v4
17g.745635G>CCA397503876GEMIN4c.2408C>G (p.Ser803Cys)
c.2375C>G (p.Ser792Cys)
c.2420C>G (p.Ser807Cys)
17g.745635G>TCA397503877GEMIN4c.2408C>A (p.Ser803Tyr)
c.2375C>A (p.Ser792Tyr)
c.2420C>A (p.Ser807Tyr)
17g.745636A=CA2242474352GEMIN4c.2407T= (p.Ser803=)
c.2374T= (p.Ser792=)
c.2419T= (p.Ser807=)
17g.745636A>CCA397503878GEMIN4c.2407T>G (p.Ser803Ala)
c.2374T>G (p.Ser792Ala)
c.2419T>G (p.Ser807Ala)
17g.745636A>GCA397503879GEMIN4c.2407T>C (p.Ser803Pro)
c.2374T>C (p.Ser792Pro)
c.2419T>C (p.Ser807Pro)
 dbSNP
17g.745636A>TCA397503880GEMIN4c.2407T>A (p.Ser803Thr)
c.2374T>A (p.Ser792Thr)
c.2419T>A (p.Ser807Thr)
17g.745637G>ACA497383909GEMIN4c.2406C>T (p.Thr802=)
c.2373C>T (p.Thr791=)
c.2418C>T (p.Thr806=)
17g.745637G>CCA497383907GEMIN4c.2406C>G (p.Thr802=)
c.2373C>G (p.Thr791=)
c.2418C>G (p.Thr806=)
17g.745637G>TCA497383903GEMIN4c.2406C>A (p.Thr802=)
c.2373C>A (p.Thr791=)
c.2418C>A (p.Thr806=)
17g.745638G>ACA397503881GEMIN4c.2405C>T (p.Thr802Ile)
c.2372C>T (p.Thr791Ile)
c.2417C>T (p.Thr806Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.745638G>CCA397503882GEMIN4c.2405C>G (p.Thr802Ser)
c.2372C>G (p.Thr791Ser)
c.2417C>G (p.Thr806Ser)
17g.745638G=CA2242474353GEMIN4c.2405C= (p.Thr802=)
c.2372C= (p.Thr791=)
c.2417C= (p.Thr806=)
17g.745638G>TCA397503883GEMIN4c.2405C>A (p.Thr802Asn)
c.2372C>A (p.Thr791Asn)
c.2417C>A (p.Thr806Asn)
17g.745639T>ACA397503884GEMIN4c.2404A>T (p.Thr802Ser)
c.2371A>T (p.Thr791Ser)
c.2416A>T (p.Thr806Ser)
17g.745639T>CCA397503885GEMIN4c.2404A>G (p.Thr802Ala)
c.2371A>G (p.Thr791Ala)
c.2416A>G (p.Thr806Ala)
 dbSNP
17g.745639T>GCA397503886GEMIN4c.2404A>C (p.Thr802Pro)
c.2371A>C (p.Thr791Pro)
c.2416A>C (p.Thr806Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.745639T=CA2242474354GEMIN4c.2404A= (p.Thr802=)
c.2371A= (p.Thr791=)
c.2416A= (p.Thr806=)
17g.745640C>ACA397503887GEMIN4c.2403G>T (p.Trp801Cys)
c.2370G>T (p.Trp790Cys)
c.2415G>T (p.Trp805Cys)
17g.745640C>GCA397503889GEMIN4c.2403G>C (p.Trp801Cys)
c.2370G>C (p.Trp790Cys)
c.2415G>C (p.Trp805Cys)
17g.745640C>TCA397503888GEMIN4c.2403G>A (p.Trp801Ter)
c.2370G>A (p.Trp790Ter)
c.2415G>A (p.Trp805Ter)
17g.745641C>ACA397503890GEMIN4c.2402G>T (p.Trp801Leu)
c.2369G>T (p.Trp790Leu)
c.2414G>T (p.Trp805Leu)
17g.745641C>GCA397503891GEMIN4c.2402G>C (p.Trp801Ser)
c.2369G>C (p.Trp790Ser)
c.2414G>C (p.Trp805Ser)
17g.745641C>TCA397503892GEMIN4c.2402G>A (p.Trp801Ter)
c.2369G>A (p.Trp790Ter)
c.2414G>A (p.Trp805Ter)
17g.745642A>CCA397503893GEMIN4c.2401T>G (p.Trp801Gly)
c.2368T>G (p.Trp790Gly)
c.2413T>G (p.Trp805Gly)
17g.745642A>GCA397503894GEMIN4c.2401T>C (p.Trp801Arg)
c.2368T>C (p.Trp790Arg)
c.2413T>C (p.Trp805Arg)
 gnomAD v4
17g.745642A>TCA397503895GEMIN4c.2401T>A (p.Trp801Arg)
c.2368T>A (p.Trp790Arg)
c.2413T>A (p.Trp805Arg)
17g.745643C>ACA397503896GEMIN4c.2400G>T (p.Glu800Asp)
c.2367G>T (p.Glu789Asp)
c.2412G>T (p.Glu804Asp)
17g.745643C=CA2242474355GEMIN4c.2400G= (p.Glu800=)
c.2367G= (p.Glu789=)
c.2412G= (p.Glu804=)
17g.745643C>GCA397503897GEMIN4c.2400G>C (p.Glu800Asp)
c.2367G>C (p.Glu789Asp)
c.2412G>C (p.Glu804Asp)
17g.745643C>TCA8262427GEMIN4c.2400G>A (p.Glu800=)
c.2367G>A (p.Glu789=)
c.2412G>A (p.Glu804=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745644T>ACA397503900GEMIN4c.2399A>T (p.Glu800Val)
c.2366A>T (p.Glu789Val)
c.2411A>T (p.Glu804Val)
17g.745644T>CCA397503899GEMIN4c.2399A>G (p.Glu800Gly)
c.2366A>G (p.Glu789Gly)
c.2411A>G (p.Glu804Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.745644T>GCA397503898GEMIN4c.2399A>C (p.Glu800Ala)
c.2366A>C (p.Glu789Ala)
c.2411A>C (p.Glu804Ala)
17g.745644T=CA2242474356GEMIN4c.2399A= (p.Glu800=)
c.2366A= (p.Glu789=)
c.2411A= (p.Glu804=)
17g.745645C>ACA397503901GEMIN4c.2398G>T (p.Glu800Ter)
c.2365G>T (p.Glu789Ter)
c.2410G>T (p.Glu804Ter)
17g.745645C=CA2242474357GEMIN4c.2398G= (p.Glu800=)
c.2365G= (p.Glu789=)
c.2410G= (p.Glu804=)
17g.745645C>GCA397503902GEMIN4c.2398G>C (p.Glu800Gln)
c.2365G>C (p.Glu789Gln)
c.2410G>C (p.Glu804Gln)
17g.745645C>TCA286713655GEMIN4c.2398G>A (p.Glu800Lys)
c.2365G>A (p.Glu789Lys)
c.2410G>A (p.Glu804Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.745646G>ACA8262428GEMIN4c.2397C>T (p.Asp799=)
c.2364C>T (p.Asp788=)
c.2409C>T (p.Asp803=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745646G>CCA397503903GEMIN4c.2397C>G (p.Asp799Glu)
c.2364C>G (p.Asp788Glu)
c.2409C>G (p.Asp803Glu)
17g.745646G=CA2242474358GEMIN4c.2397C= (p.Asp799=)
c.2364C= (p.Asp788=)
c.2409C= (p.Asp803=)
17g.745646G>TCA397503904GEMIN4c.2397C>A (p.Asp799Glu)
c.2364C>A (p.Asp788Glu)
c.2409C>A (p.Asp803Glu)
17g.745647T>ACA397503905GEMIN4c.2396A>T (p.Asp799Val)
c.2363A>T (p.Asp788Val)
c.2408A>T (p.Asp803Val)
17g.745647T>CCA397503906GEMIN4c.2396A>G (p.Asp799Gly)
c.2363A>G (p.Asp788Gly)
c.2408A>G (p.Asp803Gly)
17g.745647T>GCA397503907GEMIN4c.2396A>C (p.Asp799Ala)
c.2363A>C (p.Asp788Ala)
c.2408A>C (p.Asp803Ala)
17g.745648C>ACA397503908GEMIN4c.2395G>T (p.Asp799Tyr)
c.2362G>T (p.Asp788Tyr)
c.2407G>T (p.Asp803Tyr)
17g.745648C>GCA397503909GEMIN4c.2395G>C (p.Asp799His)
c.2362G>C (p.Asp788His)
c.2407G>C (p.Asp803His)
17g.745648C>TCA397503910GEMIN4c.2395G>A (p.Asp799Asn)
c.2362G>A (p.Asp788Asn)
c.2407G>A (p.Asp803Asn)
 gnomAD v4
17g.745649T>ACA397503912GEMIN4c.2394A>T (p.Glu798Asp)
c.2361A>T (p.Glu787Asp)
c.2406A>T (p.Glu802Asp)
 gnomAD v4
17g.745649T>CCA497383932GEMIN4c.2394A>G (p.Glu798=)
c.2361A>G (p.Glu787=)
c.2406A>G (p.Glu802=)
17g.745649T>GCA397503911GEMIN4c.2394A>C (p.Glu798Asp)
c.2361A>C (p.Glu787Asp)
c.2406A>C (p.Glu802Asp)
17g.745650T>ACA397503913GEMIN4c.2393A>T (p.Glu798Val)
c.2360A>T (p.Glu787Val)
c.2405A>T (p.Glu802Val)
17g.745650T>CCA397503914GEMIN4c.2393A>G (p.Glu798Gly)
c.2360A>G (p.Glu787Gly)
c.2405A>G (p.Glu802Gly)
17g.745650T>GCA397503915GEMIN4c.2393A>C (p.Glu798Ala)
c.2360A>C (p.Glu787Ala)
c.2405A>C (p.Glu802Ala)
17g.745651C>ACA397503916GEMIN4c.2392G>T (p.Glu798Ter)
c.2359G>T (p.Glu787Ter)
c.2404G>T (p.Glu802Ter)
17g.745651C>GCA397503917GEMIN4c.2392G>C (p.Glu798Gln)
c.2359G>C (p.Glu787Gln)
c.2404G>C (p.Glu802Gln)
17g.745651C>TCA397503918GEMIN4c.2392G>A (p.Glu798Lys)
c.2359G>A (p.Glu787Lys)
c.2404G>A (p.Glu802Lys)
17g.745652T>ACA497383936GEMIN4c.2391A>T (p.Ser797=)
c.2358A>T (p.Ser786=)
c.2403A>T (p.Ser801=)
17g.745652T>CCA497383937GEMIN4c.2391A>G (p.Ser797=)
c.2358A>G (p.Ser786=)
c.2403A>G (p.Ser801=)
 dbSNP gnomAD v2 gnomAD v4
17g.745652T>GCA497383939GEMIN4c.2391A>C (p.Ser797=)
c.2358A>C (p.Ser786=)
c.2403A>C (p.Ser801=)
17g.745652T=CA2242474359GEMIN4c.2391A= (p.Ser797=)
c.2358A= (p.Ser786=)
c.2403A= (p.Ser801=)
17g.745653G>ACA8262429GEMIN4c.2390C>T (p.Ser797Leu)
c.2357C>T (p.Ser786Leu)
c.2402C>T (p.Ser801Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745653G>CCA397503919GEMIN4c.2390C>G (p.Ser797Ter)
c.2357C>G (p.Ser786Ter)
c.2402C>G (p.Ser801Ter)
17g.745653G=CA2242474360GEMIN4c.2390C= (p.Ser797=)
c.2357C= (p.Ser786=)
c.2402C= (p.Ser801=)
17g.745653G>TCA397503920GEMIN4c.2390C>A (p.Ser797Ter)
c.2357C>A (p.Ser786Ter)
c.2402C>A (p.Ser801Ter)
 gnomAD v4
17g.745654A>CCA397503921GEMIN4c.2389T>G (p.Ser797Ala)
c.2356T>G (p.Ser786Ala)
c.2401T>G (p.Ser801Ala)
17g.745654A>GCA397503922GEMIN4c.2389T>C (p.Ser797Pro)
c.2356T>C (p.Ser786Pro)
c.2401T>C (p.Ser801Pro)
17g.745654A>TCA397503923GEMIN4c.2389T>A (p.Ser797Thr)
c.2356T>A (p.Ser786Thr)
c.2401T>A (p.Ser801Thr)
17g.745655A=CA2242474361GEMIN4c.2388T= (p.Leu796=)
c.2355T= (p.Leu785=)
c.2400T= (p.Leu800=)
17g.745655A>CCA497383943GEMIN4c.2388T>G (p.Leu796=)
c.2355T>G (p.Leu785=)
c.2400T>G (p.Leu800=)
 dbSNP
17g.745655A>GCA8262430GEMIN4c.2388T>C (p.Leu796=)
c.2355T>C (p.Leu785=)
c.2400T>C (p.Leu800=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745655A>TCA497383944GEMIN4c.2388T>A (p.Leu796=)
c.2355T>A (p.Leu785=)
c.2400T>A (p.Leu800=)
17g.745656A>CCA397503925GEMIN4c.2387T>G (p.Leu796Arg)
c.2354T>G (p.Leu785Arg)
c.2399T>G (p.Leu800Arg)
17g.745656A>GCA397503926GEMIN4c.2387T>C (p.Leu796Pro)
c.2354T>C (p.Leu785Pro)
c.2399T>C (p.Leu800Pro)
17g.745656A>TCA397503924GEMIN4c.2387T>A (p.Leu796His)
c.2354T>A (p.Leu785His)
c.2399T>A (p.Leu800His)
17g.745657G>ACA397503927GEMIN4c.2386C>T (p.Leu796Phe)
c.2353C>T (p.Leu785Phe)
c.2398C>T (p.Leu800Phe)
17g.745657G>CCA397503928GEMIN4c.2386C>G (p.Leu796Val)
c.2353C>G (p.Leu785Val)
c.2398C>G (p.Leu800Val)
17g.745657G>TCA397503929GEMIN4c.2386C>A (p.Leu796Ile)
c.2353C>A (p.Leu785Ile)
c.2398C>A (p.Leu800Ile)
 gnomAD v4
17g.745658C>ACA397503930GEMIN4c.2385G>T (p.Lys795Asn)
c.2352G>T (p.Lys784Asn)
c.2397G>T (p.Lys799Asn)
 gnomAD v4
17g.745658C>GCA397503931GEMIN4c.2385G>C (p.Lys795Asn)
c.2352G>C (p.Lys784Asn)
c.2397G>C (p.Lys799Asn)
17g.745658C>TCA497383957GEMIN4c.2385G>A (p.Lys795=)
c.2352G>A (p.Lys784=)
c.2397G>A (p.Lys799=)
 gnomAD v4
17g.745659T>ACA397503932GEMIN4c.2384A>T (p.Lys795Met)
c.2351A>T (p.Lys784Met)
c.2396A>T (p.Lys799Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745659T>CCA397503933GEMIN4c.2384A>G (p.Lys795Arg)
c.2351A>G (p.Lys784Arg)
c.2396A>G (p.Lys799Arg)
17g.745659T>GCA397503934GEMIN4c.2384A>C (p.Lys795Thr)
c.2351A>C (p.Lys784Thr)
c.2396A>C (p.Lys799Thr)
17g.745659T=CA2242474362GEMIN4c.2384A= (p.Lys795=)
c.2351A= (p.Lys784=)
c.2396A= (p.Lys799=)
17g.745660T>ACA397503935GEMIN4c.2383A>T (p.Lys795Ter)
c.2350A>T (p.Lys784Ter)
c.2395A>T (p.Lys799Ter)
17g.745660T>CCA397503936GEMIN4c.2383A>G (p.Lys795Glu)
c.2350A>G (p.Lys784Glu)
c.2395A>G (p.Lys799Glu)
17g.745660T>GCA397503937GEMIN4c.2383A>C (p.Lys795Gln)
c.2350A>C (p.Lys784Gln)
c.2395A>C (p.Lys799Gln)
17g.745661A=CA2242474363GEMIN4c.2382T= (p.Cys794=)
c.2349T= (p.Cys783=)
c.2394T= (p.Cys798=)
17g.745661A>CCA397503938GEMIN4c.2382T>G (p.Cys794Trp)
c.2349T>G (p.Cys783Trp)
c.2394T>G (p.Cys798Trp)
17g.745661A>GCA497383958GEMIN4c.2382T>C (p.Cys794=)
c.2349T>C (p.Cys783=)
c.2394T>C (p.Cys798=)
 dbSNP gnomAD v3 gnomAD v4
17g.745661A>TCA397503939GEMIN4c.2382T>A (p.Cys794Ter)
c.2349T>A (p.Cys783Ter)
c.2394T>A (p.Cys798Ter)
17g.745662C>ACA397503941GEMIN4c.2381G>T (p.Cys794Phe)
c.2348G>T (p.Cys783Phe)
c.2393G>T (p.Cys798Phe)
17g.745662C=CA2242474364GEMIN4c.2381G= (p.Cys794=)
c.2348G= (p.Cys783=)
c.2393G= (p.Cys798=)
17g.745662C>GCA8262431GEMIN4c.2381G>C (p.Cys794Ser)
c.2348G>C (p.Cys783Ser)
c.2393G>C (p.Cys798Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745662C>TCA397503940GEMIN4c.2381G>A (p.Cys794Tyr)
c.2348G>A (p.Cys783Tyr)
c.2393G>A (p.Cys798Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.745663A>CCA397503942GEMIN4c.2380T>G (p.Cys794Gly)
c.2347T>G (p.Cys783Gly)
c.2392T>G (p.Cys798Gly)
17g.745663A>GCA397503943GEMIN4c.2380T>C (p.Cys794Arg)
c.2347T>C (p.Cys783Arg)
c.2392T>C (p.Cys798Arg)
17g.745663A>TCA397503944GEMIN4c.2380T>A (p.Cys794Ser)
c.2347T>A (p.Cys783Ser)
c.2392T>A (p.Cys798Ser)
17g.745664G>ACA497383980GEMIN4c.2379C>T (p.Ile793=)
c.2346C>T (p.Ile782=)
c.2391C>T (p.Ile797=)
17g.745664G>CCA397503945GEMIN4c.2379C>G (p.Ile793Met)
c.2346C>G (p.Ile782Met)
c.2391C>G (p.Ile797Met)
17g.745664G>TCA497383981GEMIN4c.2379C>A (p.Ile793=)
c.2346C>A (p.Ile782=)
c.2391C>A (p.Ile797=)
 gnomAD v4
17g.745665A>CCA397503946GEMIN4c.2378T>G (p.Ile793Ser)
c.2345T>G (p.Ile782Ser)
c.2390T>G (p.Ile797Ser)
17g.745665A>GCA397503947GEMIN4c.2378T>C (p.Ile793Thr)
c.2345T>C (p.Ile782Thr)
c.2390T>C (p.Ile797Thr)
17g.745665A>TCA397503948GEMIN4c.2378T>A (p.Ile793Asn)
c.2345T>A (p.Ile782Asn)
c.2390T>A (p.Ile797Asn)
17g.745666T>ACA397503949GEMIN4c.2377A>T (p.Ile793Phe)
c.2344A>T (p.Ile782Phe)
c.2389A>T (p.Ile797Phe)
17g.745666T>CCA397503950GEMIN4c.2377A>G (p.Ile793Val)
c.2344A>G (p.Ile782Val)
c.2389A>G (p.Ile797Val)
17g.745666T>GCA397503951GEMIN4c.2377A>C (p.Ile793Leu)
c.2344A>C (p.Ile782Leu)
c.2389A>C (p.Ile797Leu)
17g.745667C>ACA397503952GEMIN4c.2376G>T (p.Glu792Asp)
c.2343G>T (p.Glu781Asp)
c.2388G>T (p.Glu796Asp)
 gnomAD v4
17g.745667C>GCA397503953GEMIN4c.2376G>C (p.Glu792Asp)
c.2343G>C (p.Glu781Asp)
c.2388G>C (p.Glu796Asp)
17g.745667C>TCA497383993GEMIN4c.2376G>A (p.Glu792=)
c.2343G>A (p.Glu781=)
c.2388G>A (p.Glu796=)
17g.745668T>ACA397503954GEMIN4c.2375A>T (p.Glu792Val)
c.2342A>T (p.Glu781Val)
c.2387A>T (p.Glu796Val)
17g.745668T>CCA397503955GEMIN4c.2375A>G (p.Glu792Gly)
c.2342A>G (p.Glu781Gly)
c.2387A>G (p.Glu796Gly)
 gnomAD v4
17g.745668T>GCA397503956GEMIN4c.2375A>C (p.Glu792Ala)
c.2342A>C (p.Glu781Ala)
c.2387A>C (p.Glu796Ala)
17g.745669C>ACA397503958GEMIN4c.2374G>T (p.Glu792Ter)
c.2341G>T (p.Glu781Ter)
c.2386G>T (p.Glu796Ter)
17g.745669C>GCA397503959GEMIN4c.2374G>C (p.Glu792Gln)
c.2341G>C (p.Glu781Gln)
c.2386G>C (p.Glu796Gln)
17g.745669C>TCA397503957GEMIN4c.2374G>A (p.Glu792Lys)
c.2341G>A (p.Glu781Lys)
c.2386G>A (p.Glu796Lys)
17g.745670A>CCA397503960GEMIN4c.2373T>G (p.Phe791Leu)
c.2340T>G (p.Phe780Leu)
c.2385T>G (p.Phe795Leu)
17g.745670A>GCA497384003GEMIN4c.2373T>C (p.Phe791=)
c.2340T>C (p.Phe780=)
c.2385T>C (p.Phe795=)
17g.745670A>TCA397503961GEMIN4c.2373T>A (p.Phe791Leu)
c.2340T>A (p.Phe780Leu)
c.2385T>A (p.Phe795Leu)
 gnomAD v4
17g.745674delCA2635152822GEMIN4c.2373del (p.Phe791LeufsTer?)
c.2340del (p.Phe780LeufsTer?)
c.2385del (p.Phe795LeufsTer?)
 gnomAD v4
17g.745673_745674delCA2635152826GEMIN4c.2372_2373del (p.Phe791Ter)
c.2339_2340del (p.Phe780Ter)
c.2384_2385del (p.Phe795Ter)
 gnomAD v4
17g.745670_745671insTGAGTGCTTTGCCTCCCGATATGCCAGAGCTTGTGGTCCCA2808150947GEMIN4c.2372_2373insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe791delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis)
c.2339_2340insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe780delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis)
c.2384_2385insGGACCACAAGCTCTGGCATATCGGGAGGCAAAGCACTCA (p.Phe795delinsLeuAspHisLysLeuTrpHisIleGlyArgGlnSerThrHis)
17g.745671A>CCA397503962GEMIN4c.2372T>G (p.Phe791Cys)
c.2339T>G (p.Phe780Cys)
c.2384T>G (p.Phe795Cys)
 gnomAD v4
17g.745671A>GCA397503963GEMIN4c.2372T>C (p.Phe791Ser)
c.2339T>C (p.Phe780Ser)
c.2384T>C (p.Phe795Ser)
 gnomAD v4
17g.745671A>TCA397503964GEMIN4c.2372T>A (p.Phe791Tyr)
c.2339T>A (p.Phe780Tyr)
c.2384T>A (p.Phe795Tyr)
17g.745672A=CA2242474365GEMIN4c.2371T= (p.Phe791=)
c.2338T= (p.Phe780=)
c.2383T= (p.Phe795=)
17g.745672A>CCA397503965GEMIN4c.2371T>G (p.Phe791Val)
c.2338T>G (p.Phe780Val)
c.2383T>G (p.Phe795Val)
17g.745672A>GCA8262432GEMIN4c.2371T>C (p.Phe791Leu)
c.2338T>C (p.Phe780Leu)
c.2383T>C (p.Phe795Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745672A>TCA397503966GEMIN4c.2371T>A (p.Phe791Ile)
c.2338T>A (p.Phe780Ile)
c.2383T>A (p.Phe795Ile)
17g.745673A=CA2242474366GEMIN4c.2370T= (p.Leu790=)
c.2337T= (p.Leu779=)
c.2382T= (p.Leu794=)
17g.745673A>CCA8262433GEMIN4c.2370T>G (p.Leu790=)
c.2337T>G (p.Leu779=)
c.2382T>G (p.Leu794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745673A>GCA497384012GEMIN4c.2370T>C (p.Leu790=)
c.2337T>C (p.Leu779=)
c.2382T>C (p.Leu794=)
17g.745673A>TCA497384013GEMIN4c.2370T>A (p.Leu790=)
c.2337T>A (p.Leu779=)
c.2382T>A (p.Leu794=)
17g.745674A>CCA397503967GEMIN4c.2369T>G (p.Leu790Arg)
c.2336T>G (p.Leu779Arg)
c.2381T>G (p.Leu794Arg)
17g.745674A>GCA397503968GEMIN4c.2369T>C (p.Leu790Pro)
c.2336T>C (p.Leu779Pro)
c.2381T>C (p.Leu794Pro)
17g.745674A>TCA397503969GEMIN4c.2369T>A (p.Leu790His)
c.2336T>A (p.Leu779His)
c.2381T>A (p.Leu794His)
17g.745675G>ACA397503971GEMIN4c.2368C>T (p.Leu790Phe)
c.2335C>T (p.Leu779Phe)
c.2380C>T (p.Leu794Phe)
 gnomAD v4
17g.745675G>CCA397503972GEMIN4c.2368C>G (p.Leu790Val)
c.2335C>G (p.Leu779Val)
c.2380C>G (p.Leu794Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745675G=CA2242474367GEMIN4c.2368C= (p.Leu790=)
c.2335C= (p.Leu779=)
c.2380C= (p.Leu794=)
17g.745675G>TCA397503970GEMIN4c.2368C>A (p.Leu790Ile)
c.2335C>A (p.Leu779Ile)
c.2380C>A (p.Leu794Ile)
17g.745676T>ACA497384026GEMIN4c.2367A>T (p.Thr789=)
c.2334A>T (p.Thr778=)
c.2379A>T (p.Thr793=)
17g.745676T>CCA8262434GEMIN4c.2367A>G (p.Thr789=)
c.2334A>G (p.Thr778=)
c.2379A>G (p.Thr793=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745676T>GCA497384029GEMIN4c.2367A>C (p.Thr789=)
c.2334A>C (p.Thr778=)
c.2379A>C (p.Thr793=)
17g.745676T=CA2242474368GEMIN4c.2367A= (p.Thr789=)
c.2334A= (p.Thr778=)
c.2379A= (p.Thr793=)
17g.745677G>ACA397503973GEMIN4c.2366C>T (p.Thr789Ile)
c.2333C>T (p.Thr778Ile)
c.2378C>T (p.Thr793Ile)
 gnomAD v4
17g.745677G>CCA397503974GEMIN4c.2366C>G (p.Thr789Arg)
c.2333C>G (p.Thr778Arg)
c.2378C>G (p.Thr793Arg)
17g.745677G>TCA397503975GEMIN4c.2366C>A (p.Thr789Lys)
c.2333C>A (p.Thr778Lys)
c.2378C>A (p.Thr793Lys)
17g.745678T>ACA397503978GEMIN4c.2365A>T (p.Thr789Ser)
c.2332A>T (p.Thr778Ser)
c.2377A>T (p.Thr793Ser)
17g.745678T>CCA397503977GEMIN4c.2365A>G (p.Thr789Ala)
c.2332A>G (p.Thr778Ala)
c.2377A>G (p.Thr793Ala)
17g.745678T>GCA397503976GEMIN4c.2365A>C (p.Thr789Pro)
c.2332A>C (p.Thr778Pro)
c.2377A>C (p.Thr793Pro)
17g.745679G>ACA497384039GEMIN4c.2364C>T (p.Ala788=)
c.2331C>T (p.Ala777=)
c.2376C>T (p.Ala792=)
 dbSNP gnomAD v2
17g.745679G>CCA497384040GEMIN4c.2364C>G (p.Ala788=)
c.2331C>G (p.Ala777=)
c.2376C>G (p.Ala792=)
17g.745679G=CA2242474369GEMIN4c.2364C= (p.Ala788=)
c.2331C= (p.Ala777=)
c.2376C= (p.Ala792=)
17g.745679G>TCA497384041GEMIN4c.2364C>A (p.Ala788=)
c.2331C>A (p.Ala777=)
c.2376C>A (p.Ala792=)
17g.745680G>ACA286713656GEMIN4c.2363C>T (p.Ala788Val)
c.2330C>T (p.Ala777Val)
c.2375C>T (p.Ala792Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745680G>CCA397503979GEMIN4c.2363C>G (p.Ala788Gly)
c.2330C>G (p.Ala777Gly)
c.2375C>G (p.Ala792Gly)
17g.745680G=CA2242474370GEMIN4c.2363C= (p.Ala788=)
c.2330C= (p.Ala777=)
c.2375C= (p.Ala792=)
17g.745680G>TCA397503980GEMIN4c.2363C>A (p.Ala788Asp)
c.2330C>A (p.Ala777Asp)
c.2375C>A (p.Ala792Asp)
 gnomAD v4
17g.745681C>ACA397503981GEMIN4c.2362G>T (p.Ala788Ser)
c.2329G>T (p.Ala777Ser)
c.2374G>T (p.Ala792Ser)
17g.745681C=CA2242474371GEMIN4c.2362G= (p.Ala788=)
c.2329G= (p.Ala777=)
c.2374G= (p.Ala792=)
17g.745681C>GCA397503982GEMIN4c.2362G>C (p.Ala788Pro)
c.2329G>C (p.Ala777Pro)
c.2374G>C (p.Ala792Pro)
 dbSNP
17g.745681C>TCA397503983GEMIN4c.2362G>A (p.Ala788Thr)
c.2329G>A (p.Ala777Thr)
c.2374G>A (p.Ala792Thr)
17g.745682T>ACA497384045GEMIN4c.2361A>T (p.Pro787=)
c.2328A>T (p.Pro776=)
c.2373A>T (p.Pro791=)
17g.745682T>CCA497384047GEMIN4c.2361A>G (p.Pro787=)
c.2328A>G (p.Pro776=)
c.2373A>G (p.Pro791=)
17g.745682T>GCA497384046GEMIN4c.2361A>C (p.Pro787=)
c.2328A>C (p.Pro776=)
c.2373A>C (p.Pro791=)
17g.745683G>ACA397503984GEMIN4c.2360C>T (p.Pro787Leu)
c.2327C>T (p.Pro776Leu)
c.2372C>T (p.Pro791Leu)
17g.745683G>CCA397503986GEMIN4c.2360C>G (p.Pro787Arg)
c.2327C>G (p.Pro776Arg)
c.2372C>G (p.Pro791Arg)
17g.745683G>TCA397503985GEMIN4c.2360C>A (p.Pro787Gln)
c.2327C>A (p.Pro776Gln)
c.2372C>A (p.Pro791Gln)
 gnomAD v4
17g.745684G>ACA397503987GEMIN4c.2359C>T (p.Pro787Ser)
c.2326C>T (p.Pro776Ser)
c.2371C>T (p.Pro791Ser)
 gnomAD v4
17g.745684G>CCA286713657GEMIN4c.2359C>G (p.Pro787Ala)
c.2326C>G (p.Pro776Ala)
c.2371C>G (p.Pro791Ala)
 dbSNP gnomAD v4
17g.745684G=CA2242474372GEMIN4c.2359C= (p.Pro787=)
c.2326C= (p.Pro776=)
c.2371C= (p.Pro791=)
17g.745684G>TCA397503988GEMIN4c.2359C>A (p.Pro787Thr)
c.2326C>A (p.Pro776Thr)
c.2371C>A (p.Pro791Thr)
 gnomAD v4
17g.745685C>ACA497384056GEMIN4c.2358G>T (p.Val786=)
c.2325G>T (p.Val775=)
c.2370G>T (p.Val790=)
17g.745685C>GCA497384058GEMIN4c.2358G>C (p.Val786=)
c.2325G>C (p.Val775=)
c.2370G>C (p.Val790=)
17g.745685C>TCA497384061GEMIN4c.2358G>A (p.Val786=)
c.2325G>A (p.Val775=)
c.2370G>A (p.Val790=)
17g.745686A>CCA397503989GEMIN4c.2357T>G (p.Val786Gly)
c.2324T>G (p.Val775Gly)
c.2369T>G (p.Val790Gly)
17g.745686A>GCA397503990GEMIN4c.2357T>C (p.Val786Ala)
c.2324T>C (p.Val775Ala)
c.2369T>C (p.Val790Ala)
17g.745686A>TCA397503991GEMIN4c.2357T>A (p.Val786Glu)
c.2324T>A (p.Val775Glu)
c.2369T>A (p.Val790Glu)
 gnomAD v4
17g.745687C>ACA397503994GEMIN4c.2356G>T (p.Val786Leu)
c.2323G>T (p.Val775Leu)
c.2368G>T (p.Val790Leu)
 dbSNP gnomAD v4
17g.745687C=CA2242474373GEMIN4c.2356G= (p.Val786=)
c.2323G= (p.Val775=)
c.2368G= (p.Val790=)
17g.745687C>GCA397503992GEMIN4c.2356G>C (p.Val786Leu)
c.2323G>C (p.Val775Leu)
c.2368G>C (p.Val790Leu)
17g.745687C>TCA397503993GEMIN4c.2356G>A (p.Val786Met)
c.2323G>A (p.Val775Met)
c.2368G>A (p.Val790Met)
17g.745688T>ACA397503995GEMIN4c.2355A>T (p.Glu785Asp)
c.2322A>T (p.Glu774Asp)
c.2367A>T (p.Glu789Asp)
17g.745688T>CCA497384076GEMIN4c.2355A>G (p.Glu785=)
c.2322A>G (p.Glu774=)
c.2367A>G (p.Glu789=)
 dbSNP
17g.745688T>GCA8262435GEMIN4c.2355A>C (p.Glu785Asp)
c.2322A>C (p.Glu774Asp)
c.2367A>C (p.Glu789Asp)
 dbSNP ExAC gnomAD v2
17g.745688T=CA2242474374GEMIN4c.2355A= (p.Glu785=)
c.2322A= (p.Glu774=)
c.2367A= (p.Glu789=)
17g.745689T>ACA397503996GEMIN4c.2354A>T (p.Glu785Val)
c.2321A>T (p.Glu774Val)
c.2366A>T (p.Glu789Val)
17g.745689T>CCA397503997GEMIN4c.2354A>G (p.Glu785Gly)
c.2321A>G (p.Glu774Gly)
c.2366A>G (p.Glu789Gly)
17g.745689T>GCA397503998GEMIN4c.2354A>C (p.Glu785Ala)
c.2321A>C (p.Glu774Ala)
c.2366A>C (p.Glu789Ala)
17g.745690C>ACA397504001GEMIN4c.2353G>T (p.Glu785Ter)
c.2320G>T (p.Glu774Ter)
c.2365G>T (p.Glu789Ter)
 gnomAD v4
17g.745690C=CA2242474375GEMIN4c.2353G= (p.Glu785=)
c.2320G= (p.Glu774=)
c.2365G= (p.Glu789=)
17g.745690C>GCA397503999GEMIN4c.2353G>C (p.Glu785Gln)
c.2320G>C (p.Glu774Gln)
c.2365G>C (p.Glu789Gln)
17g.745690C>TCA397504000GEMIN4c.2353G>A (p.Glu785Lys)
c.2320G>A (p.Glu774Lys)
c.2365G>A (p.Glu789Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745691A>CCA397504002GEMIN4c.2352T>G (p.Cys784Trp)
c.2319T>G (p.Cys773Trp)
c.2364T>G (p.Cys788Trp)
17g.745691A>GCA497384091GEMIN4c.2352T>C (p.Cys784=)
c.2319T>C (p.Cys773=)
c.2364T>C (p.Cys788=)
17g.745691A>TCA397504003GEMIN4c.2352T>A (p.Cys784Ter)
c.2319T>A (p.Cys773Ter)
c.2364T>A (p.Cys788Ter)
17g.745692delCA2635152857GEMIN4c.2351del (p.Cys784LeufsTer?)
c.2318del (p.Cys773LeufsTer?)
c.2363del (p.Cys788LeufsTer?)
 gnomAD v4
17g.745692C>ACA397504004GEMIN4c.2351G>T (p.Cys784Phe)
c.2318G>T (p.Cys773Phe)
c.2363G>T (p.Cys788Phe)
17g.745692C>GCA397504005GEMIN4c.2351G>C (p.Cys784Ser)
c.2318G>C (p.Cys773Ser)
c.2363G>C (p.Cys788Ser)
17g.745692C>TCA397504006GEMIN4c.2351G>A (p.Cys784Tyr)
c.2318G>A (p.Cys773Tyr)
c.2363G>A (p.Cys788Tyr)
17g.745693A>CCA397504007GEMIN4c.2350T>G (p.Cys784Gly)
c.2317T>G (p.Cys773Gly)
c.2362T>G (p.Cys788Gly)
17g.745693A>GCA397504008GEMIN4c.2350T>C (p.Cys784Arg)
c.2317T>C (p.Cys773Arg)
c.2362T>C (p.Cys788Arg)
17g.745693A>TCA397504009GEMIN4c.2350T>A (p.Cys784Ser)
c.2317T>A (p.Cys773Ser)
c.2362T>A (p.Cys788Ser)
17g.745694C>ACA397504010GEMIN4c.2349G>T (p.Lys783Asn)
c.2316G>T (p.Lys772Asn)
c.2361G>T (p.Lys787Asn)
 dbSNP gnomAD v2
17g.745694C=CA2242474376GEMIN4c.2349G= (p.Lys783=)
c.2316G= (p.Lys772=)
c.2361G= (p.Lys787=)
17g.745694C>GCA286713658GEMIN4c.2349G>C (p.Lys783Asn)
c.2316G>C (p.Lys772Asn)
c.2361G>C (p.Lys787Asn)
 dbSNP gnomAD v4
17g.745694C>TCA497384099GEMIN4c.2349G>A (p.Lys783=)
c.2316G>A (p.Lys772=)
c.2361G>A (p.Lys787=)
17g.745695T>ACA397504011GEMIN4c.2348A>T (p.Lys783Met)
c.2315A>T (p.Lys772Met)
c.2360A>T (p.Lys787Met)
17g.745695T>CCA397504012GEMIN4c.2348A>G (p.Lys783Arg)
c.2315A>G (p.Lys772Arg)
c.2360A>G (p.Lys787Arg)
 dbSNP
17g.745695T>GCA397504013GEMIN4c.2348A>C (p.Lys783Thr)
c.2315A>C (p.Lys772Thr)
c.2360A>C (p.Lys787Thr)
17g.745695T=CA2242474377GEMIN4c.2348A= (p.Lys783=)
c.2315A= (p.Lys772=)
c.2360A= (p.Lys787=)
17g.745695_745696insGCA2635152867GEMIN4c.2347_2348insC (p.Lys783ThrfsTer3)
c.2314_2315insC (p.Lys772ThrfsTer3)
c.2359_2360insC (p.Lys787ThrfsTer3)
 gnomAD v4
17g.745696T>ACA397504014GEMIN4c.2347A>T (p.Lys783Ter)
c.2314A>T (p.Lys772Ter)
c.2359A>T (p.Lys787Ter)
17g.745696T>CCA397504016GEMIN4c.2347A>G (p.Lys783Glu)
c.2314A>G (p.Lys772Glu)
c.2359A>G (p.Lys787Glu)
 gnomAD v4
17g.745696T>GCA397504015GEMIN4c.2347A>C (p.Lys783Gln)
c.2314A>C (p.Lys772Gln)
c.2359A>C (p.Lys787Gln)
17g.745697G>ACA497384110GEMIN4c.2346C>T (p.Phe782=)
c.2313C>T (p.Phe771=)
c.2358C>T (p.Phe786=)
 gnomAD v4
17g.745697G>CCA8262436GEMIN4c.2346C>G (p.Phe782Leu)
c.2313C>G (p.Phe771Leu)
c.2358C>G (p.Phe786Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745697G=CA2242474378GEMIN4c.2346C= (p.Phe782=)
c.2313C= (p.Phe771=)
c.2358C= (p.Phe786=)
17g.745697G>TCA8262437GEMIN4c.2346C>A (p.Phe782Leu)
c.2313C>A (p.Phe771Leu)
c.2358C>A (p.Phe786Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745698A>CCA397504017GEMIN4c.2345T>G (p.Phe782Cys)
c.2312T>G (p.Phe771Cys)
c.2357T>G (p.Phe786Cys)
17g.745698A>GCA397504018GEMIN4c.2345T>C (p.Phe782Ser)
c.2312T>C (p.Phe771Ser)
c.2357T>C (p.Phe786Ser)
17g.745698A>TCA397504019GEMIN4c.2345T>A (p.Phe782Tyr)
c.2312T>A (p.Phe771Tyr)
c.2357T>A (p.Phe786Tyr)
17g.745699A>CCA397504020GEMIN4c.2344T>G (p.Phe782Val)
c.2311T>G (p.Phe771Val)
c.2356T>G (p.Phe786Val)
17g.745699A>GCA397504021GEMIN4c.2344T>C (p.Phe782Leu)
c.2311T>C (p.Phe771Leu)
c.2356T>C (p.Phe786Leu)
17g.745699A>TCA397504022GEMIN4c.2344T>A (p.Phe782Ile)
c.2311T>A (p.Phe771Ile)
c.2356T>A (p.Phe786Ile)
17g.745700G>ACA497384126GEMIN4c.2343C>T (p.His781=)
c.2310C>T (p.His770=)
c.2355C>T (p.His785=)
17g.745700G>CCA397504023GEMIN4c.2343C>G (p.His781Gln)
c.2310C>G (p.His770Gln)
c.2355C>G (p.His785Gln)
17g.745700G>TCA397504024GEMIN4c.2343C>A (p.His781Gln)
c.2310C>A (p.His770Gln)
c.2355C>A (p.His785Gln)
17g.745701T>ACA397504025GEMIN4c.2342A>T (p.His781Leu)
c.2309A>T (p.His770Leu)
c.2354A>T (p.His785Leu)
 gnomAD v4
17g.745701T>CCA397504026GEMIN4c.2342A>G (p.His781Arg)
c.2309A>G (p.His770Arg)
c.2354A>G (p.His785Arg)
 gnomAD v4
17g.745701T>GCA397504027GEMIN4c.2342A>C (p.His781Pro)
c.2309A>C (p.His770Pro)
c.2354A>C (p.His785Pro)
17g.745702G>ACA397504028GEMIN4c.2341C>T (p.His781Tyr)
c.2308C>T (p.His770Tyr)
c.2353C>T (p.His785Tyr)
 gnomAD v4
17g.745702G>CCA397504030GEMIN4c.2341C>G (p.His781Asp)
c.2308C>G (p.His770Asp)
c.2353C>G (p.His785Asp)
17g.745702G>TCA397504029GEMIN4c.2341C>A (p.His781Asn)
c.2308C>A (p.His770Asn)
c.2353C>A (p.His785Asn)

Number of alleles fetched