Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
17g.745703C>ACA497384141GEMIN4c.2340G>T (p.Gly780=)
c.2307G>T (p.Gly769=)
c.2352G>T (p.Gly784=)
17g.745703C=CA2242474379GEMIN4c.2340G= (p.Gly780=)
c.2307G= (p.Gly769=)
c.2352G= (p.Gly784=)
17g.745703C>GCA497384140GEMIN4c.2340G>C (p.Gly780=)
c.2307G>C (p.Gly769=)
c.2352G>C (p.Gly784=)
 dbSNP gnomAD v4
17g.745703C>TCA497384139GEMIN4c.2340G>A (p.Gly780=)
c.2307G>A (p.Gly769=)
c.2352G>A (p.Gly784=)
 gnomAD v4
17g.745704C>ACA397504031GEMIN4c.2339G>T (p.Gly780Val)
c.2306G>T (p.Gly769Val)
c.2351G>T (p.Gly784Val)
17g.745704C=CA2242474380GEMIN4c.2339G= (p.Gly780=)
c.2306G= (p.Gly769=)
c.2351G= (p.Gly784=)
17g.745704C>GCA397504032GEMIN4c.2339G>C (p.Gly780Ala)
c.2306G>C (p.Gly769Ala)
c.2351G>C (p.Gly784Ala)
17g.745704C>TCA397504033GEMIN4c.2339G>A (p.Gly780Glu)
c.2306G>A (p.Gly769Glu)
c.2351G>A (p.Gly784Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.745705C>ACA397504034GEMIN4c.2338G>T (p.Gly780Trp)
c.2305G>T (p.Gly769Trp)
c.2350G>T (p.Gly784Trp)
 gnomAD v4
17g.745705C=CA2242474381GEMIN4c.2338G= (p.Gly780=)
c.2305G= (p.Gly769=)
c.2350G= (p.Gly784=)
17g.745705C>GCA397504035GEMIN4c.2338G>C (p.Gly780Arg)
c.2305G>C (p.Gly769Arg)
c.2350G>C (p.Gly784Arg)
17g.745705C>TCA397504036GEMIN4c.2338G>A (p.Gly780Arg)
c.2305G>A (p.Gly769Arg)
c.2350G>A (p.Gly784Arg)
 dbSNP
17g.745706C>ACA397504037GEMIN4c.2337G>T (p.Glu779Asp)
c.2304G>T (p.Glu768Asp)
c.2349G>T (p.Glu783Asp)
17g.745706C>GCA397504038GEMIN4c.2337G>C (p.Glu779Asp)
c.2304G>C (p.Glu768Asp)
c.2349G>C (p.Glu783Asp)
17g.745706C>TCA497384153GEMIN4c.2337G>A (p.Glu779=)
c.2304G>A (p.Glu768=)
c.2349G>A (p.Glu783=)
17g.745707T>ACA397504039GEMIN4c.2336A>T (p.Glu779Val)
c.2303A>T (p.Glu768Val)
c.2348A>T (p.Glu783Val)
17g.745707T>CCA397504040GEMIN4c.2336A>G (p.Glu779Gly)
c.2303A>G (p.Glu768Gly)
c.2348A>G (p.Glu783Gly)
 gnomAD v4
17g.745707T>GCA397504041GEMIN4c.2336A>C (p.Glu779Ala)
c.2303A>C (p.Glu768Ala)
c.2348A>C (p.Glu783Ala)
17g.745708C>ACA397504042GEMIN4c.2335G>T (p.Glu779Ter)
c.2302G>T (p.Glu768Ter)
c.2347G>T (p.Glu783Ter)
 gnomAD v4
17g.745708C=CA2242474382GEMIN4c.2335G= (p.Glu779=)
c.2302G= (p.Glu768=)
c.2347G= (p.Glu783=)
17g.745708C>GCA397504043GEMIN4c.2335G>C (p.Glu779Gln)
c.2302G>C (p.Glu768Gln)
c.2347G>C (p.Glu783Gln)
17g.745708C>TCA8262438GEMIN4c.2335G>A (p.Glu779Lys)
c.2302G>A (p.Glu768Lys)
c.2347G>A (p.Glu783Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745709G>ACA497384168GEMIN4c.2334C>T (p.Phe778=)
c.2301C>T (p.Phe767=)
c.2346C>T (p.Phe782=)
 dbSNP gnomAD v2 gnomAD v4
17g.745709G>CCA397504045GEMIN4c.2334C>G (p.Phe778Leu)
c.2301C>G (p.Phe767Leu)
c.2346C>G (p.Phe782Leu)
 gnomAD v4
17g.745709G=CA2242474383GEMIN4c.2334C= (p.Phe778=)
c.2301C= (p.Phe767=)
c.2346C= (p.Phe782=)
17g.745709G>TCA397504044GEMIN4c.2334C>A (p.Phe778Leu)
c.2301C>A (p.Phe767Leu)
c.2346C>A (p.Phe782Leu)
17g.745713_745715delCA2635152907GEMIN4c.2332_2334del (p.Phe778del)
c.2299_2301del (p.Phe767del)
c.2344_2346del (p.Phe782del)
 gnomAD v4
17g.745710A>CCA397504046GEMIN4c.2333T>G (p.Phe778Cys)
c.2300T>G (p.Phe767Cys)
c.2345T>G (p.Phe782Cys)
17g.745710A>GCA397504047GEMIN4c.2333T>C (p.Phe778Ser)
c.2300T>C (p.Phe767Ser)
c.2345T>C (p.Phe782Ser)
 gnomAD v4
17g.745710A>TCA397504048GEMIN4c.2333T>A (p.Phe778Tyr)
c.2300T>A (p.Phe767Tyr)
c.2345T>A (p.Phe782Tyr)
17g.745711A=CA2242474384GEMIN4c.2332T= (p.Phe778=)
c.2299T= (p.Phe767=)
c.2344T= (p.Phe782=)
17g.745711A>CCA397504049GEMIN4c.2332T>G (p.Phe778Val)
c.2299T>G (p.Phe767Val)
c.2344T>G (p.Phe782Val)
 gnomAD v4
17g.745711A>GCA8262439GEMIN4c.2332T>C (p.Phe778Leu)
c.2299T>C (p.Phe767Leu)
c.2344T>C (p.Phe782Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745711A>TCA397504050GEMIN4c.2332T>A (p.Phe778Ile)
c.2299T>A (p.Phe767Ile)
c.2344T>A (p.Phe782Ile)
17g.745712G>ACA497384177GEMIN4c.2331C>T (p.Phe777=)
c.2298C>T (p.Phe766=)
c.2343C>T (p.Phe781=)
17g.745712G>CCA397504051GEMIN4c.2331C>G (p.Phe777Leu)
c.2298C>G (p.Phe766Leu)
c.2343C>G (p.Phe781Leu)
 dbSNP
17g.745712G=CA2242474385GEMIN4c.2331C= (p.Phe777=)
c.2298C= (p.Phe766=)
c.2343C= (p.Phe781=)
17g.745712G>TCA397504052GEMIN4c.2331C>A (p.Phe777Leu)
c.2298C>A (p.Phe766Leu)
c.2343C>A (p.Phe781Leu)
17g.745713A=CA2242474386GEMIN4c.2330T= (p.Phe777=)
c.2297T= (p.Phe766=)
c.2342T= (p.Phe781=)
17g.745713A>CCA397504053GEMIN4c.2330T>G (p.Phe777Cys)
c.2297T>G (p.Phe766Cys)
c.2342T>G (p.Phe781Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745713A>GCA397504054GEMIN4c.2330T>C (p.Phe777Ser)
c.2297T>C (p.Phe766Ser)
c.2342T>C (p.Phe781Ser)
17g.745713A>TCA397504055GEMIN4c.2330T>A (p.Phe777Tyr)
c.2297T>A (p.Phe766Tyr)
c.2342T>A (p.Phe781Tyr)
17g.745714A=CA2242474387GEMIN4c.2329T= (p.Phe777=)
c.2296T= (p.Phe766=)
c.2341T= (p.Phe781=)
17g.745714A>CCA397504056GEMIN4c.2329T>G (p.Phe777Val)
c.2296T>G (p.Phe766Val)
c.2341T>G (p.Phe781Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745714A>GCA397504057GEMIN4c.2329T>C (p.Phe777Leu)
c.2296T>C (p.Phe766Leu)
c.2341T>C (p.Phe781Leu)
 gnomAD v4
17g.745714A>TCA397504058GEMIN4c.2329T>A (p.Phe777Ile)
c.2296T>A (p.Phe766Ile)
c.2341T>A (p.Phe781Ile)
17g.745715G>ACA497384193GEMIN4c.2328C>T (p.Ser776=)
c.2295C>T (p.Ser765=)
c.2340C>T (p.Ser780=)
17g.745715G>CCA397504060GEMIN4c.2328C>G (p.Ser776Arg)
c.2295C>G (p.Ser765Arg)
c.2340C>G (p.Ser780Arg)
17g.745715G>TCA397504059GEMIN4c.2328C>A (p.Ser776Arg)
c.2295C>A (p.Ser765Arg)
c.2340C>A (p.Ser780Arg)
17g.745716C>ACA397504061GEMIN4c.2327G>T (p.Ser776Ile)
c.2294G>T (p.Ser765Ile)
c.2339G>T (p.Ser780Ile)
 gnomAD v4
17g.745716C>GCA397504062GEMIN4c.2327G>C (p.Ser776Thr)
c.2294G>C (p.Ser765Thr)
c.2339G>C (p.Ser780Thr)
17g.745716C>TCA397504063GEMIN4c.2327G>A (p.Ser776Asn)
c.2294G>A (p.Ser765Asn)
c.2339G>A (p.Ser780Asn)
 dbSNP
17g.745717T>ACA397504064GEMIN4c.2326A>T (p.Ser776Cys)
c.2293A>T (p.Ser765Cys)
c.2338A>T (p.Ser780Cys)
17g.745717T>CCA397504065GEMIN4c.2326A>G (p.Ser776Gly)
c.2293A>G (p.Ser765Gly)
c.2338A>G (p.Ser780Gly)
 gnomAD v4 COSMIC COSMIC
17g.745717T>GCA397504066GEMIN4c.2326A>C (p.Ser776Arg)
c.2293A>C (p.Ser765Arg)
c.2338A>C (p.Ser780Arg)
17g.745718C>ACA397504068GEMIN4c.2325G>T (p.Lys775Asn)
c.2292G>T (p.Lys764Asn)
c.2337G>T (p.Lys779Asn)
17g.745718C>GCA397504067GEMIN4c.2325G>C (p.Lys775Asn)
c.2292G>C (p.Lys764Asn)
c.2337G>C (p.Lys779Asn)
17g.745718C>TCA497384205GEMIN4c.2325G>A (p.Lys775=)
c.2292G>A (p.Lys764=)
c.2337G>A (p.Lys779=)
 gnomAD v4
17g.745719T>ACA397504069GEMIN4c.2324A>T (p.Lys775Met)
c.2291A>T (p.Lys764Met)
c.2336A>T (p.Lys779Met)
17g.745719T>CCA397504070GEMIN4c.2324A>G (p.Lys775Arg)
c.2291A>G (p.Lys764Arg)
c.2336A>G (p.Lys779Arg)
17g.745719T>GCA397504071GEMIN4c.2324A>C (p.Lys775Thr)
c.2291A>C (p.Lys764Thr)
c.2336A>C (p.Lys779Thr)
17g.745720T>ACA397504072GEMIN4c.2323A>T (p.Lys775Ter)
c.2290A>T (p.Lys764Ter)
c.2335A>T (p.Lys779Ter)
17g.745720T>CCA397504073GEMIN4c.2323A>G (p.Lys775Glu)
c.2290A>G (p.Lys764Glu)
c.2335A>G (p.Lys779Glu)
17g.745720T>GCA397504074GEMIN4c.2323A>C (p.Lys775Gln)
c.2290A>C (p.Lys764Gln)
c.2335A>C (p.Lys779Gln)
17g.745721C>ACA497384211GEMIN4c.2322G>T (p.Leu774=)
c.2289G>T (p.Leu763=)
c.2334G>T (p.Leu778=)
 gnomAD v4
17g.745721C=CA2242474388GEMIN4c.2322G= (p.Leu774=)
c.2289G= (p.Leu763=)
c.2334G= (p.Leu778=)
17g.745721C>GCA497384215GEMIN4c.2322G>C (p.Leu774=)
c.2289G>C (p.Leu763=)
c.2334G>C (p.Leu778=)
17g.745721C>TCA497384218GEMIN4c.2322G>A (p.Leu774=)
c.2289G>A (p.Leu763=)
c.2334G>A (p.Leu778=)
 dbSNP gnomAD v2 gnomAD v4
17g.745722A>CCA397504077GEMIN4c.2321T>G (p.Leu774Arg)
c.2288T>G (p.Leu763Arg)
c.2333T>G (p.Leu778Arg)
17g.745722A>GCA397504075GEMIN4c.2321T>C (p.Leu774Pro)
c.2288T>C (p.Leu763Pro)
c.2333T>C (p.Leu778Pro)
17g.745722A>TCA397504076GEMIN4c.2321T>A (p.Leu774Gln)
c.2288T>A (p.Leu763Gln)
c.2333T>A (p.Leu778Gln)
17g.745723G>ACA497384225GEMIN4c.2320C>T (p.Leu774=)
c.2287C>T (p.Leu763=)
c.2332C>T (p.Leu778=)
 gnomAD v4
17g.745723G>CCA397504078GEMIN4c.2320C>G (p.Leu774Val)
c.2287C>G (p.Leu763Val)
c.2332C>G (p.Leu778Val)
17g.745723G>TCA397504079GEMIN4c.2320C>A (p.Leu774Met)
c.2287C>A (p.Leu763Met)
c.2332C>A (p.Leu778Met)
17g.745724C>ACA397504080GEMIN4c.2319G>T (p.Arg773Ser)
c.2286G>T (p.Arg762Ser)
c.2331G>T (p.Arg777Ser)
 gnomAD v4
17g.745724C>GCA397504081GEMIN4c.2319G>C (p.Arg773Ser)
c.2286G>C (p.Arg762Ser)
c.2331G>C (p.Arg777Ser)
17g.745724C>TCA497384231GEMIN4c.2319G>A (p.Arg773=)
c.2286G>A (p.Arg762=)
c.2331G>A (p.Arg777=)
 ClinVar gnomAD v4
17g.745725C>ACA397504082GEMIN4c.2318G>T (p.Arg773Met)
c.2285G>T (p.Arg762Met)
c.2330G>T (p.Arg777Met)
 dbSNP
17g.745725C=CA2242474389GEMIN4c.2318G= (p.Arg773=)
c.2285G= (p.Arg762=)
c.2330G= (p.Arg777=)
17g.745725C>GCA397504083GEMIN4c.2318G>C (p.Arg773Thr)
c.2285G>C (p.Arg762Thr)
c.2330G>C (p.Arg777Thr)
 dbSNP
17g.745725C>TCA397504084GEMIN4c.2318G>A (p.Arg773Lys)
c.2285G>A (p.Arg762Lys)
c.2330G>A (p.Arg777Lys)
17g.745726T>ACA397504085GEMIN4c.2317A>T (p.Arg773Trp)
c.2284A>T (p.Arg762Trp)
c.2329A>T (p.Arg777Trp)
17g.745726T>CCA397504086GEMIN4c.2317A>G (p.Arg773Gly)
c.2284A>G (p.Arg762Gly)
c.2329A>G (p.Arg777Gly)
17g.745726T>GCA497384238GEMIN4c.2317A>C (p.Arg773=)
c.2284A>C (p.Arg762=)
c.2329A>C (p.Arg777=)
17g.745727C>ACA497384242GEMIN4c.2316G>T (p.Leu772=)
c.2283G>T (p.Leu761=)
c.2328G>T (p.Leu776=)
17g.745727C=CA2242474390GEMIN4c.2316G= (p.Leu772=)
c.2283G= (p.Leu761=)
c.2328G= (p.Leu776=)
17g.745727C>GCA497384245GEMIN4c.2316G>C (p.Leu772=)
c.2283G>C (p.Leu761=)
c.2328G>C (p.Leu776=)
17g.745727C>TCA286713659GEMIN4c.2316G>A (p.Leu772=)
c.2283G>A (p.Leu761=)
c.2328G>A (p.Leu776=)
 dbSNP
17g.745728A>CCA397504087GEMIN4c.2315T>G (p.Leu772Arg)
c.2282T>G (p.Leu761Arg)
c.2327T>G (p.Leu776Arg)
17g.745728A>GCA397504088GEMIN4c.2315T>C (p.Leu772Pro)
c.2282T>C (p.Leu761Pro)
c.2327T>C (p.Leu776Pro)
 gnomAD v4
17g.745728A>TCA397504089GEMIN4c.2315T>A (p.Leu772Gln)
c.2282T>A (p.Leu761Gln)
c.2327T>A (p.Leu776Gln)
17g.745729G>ACA497384259GEMIN4c.2314C>T (p.Leu772=)
c.2281C>T (p.Leu761=)
c.2326C>T (p.Leu776=)
17g.745729G>CCA397504090GEMIN4c.2314C>G (p.Leu772Val)
c.2281C>G (p.Leu761Val)
c.2326C>G (p.Leu776Val)
17g.745729G>TCA397504091GEMIN4c.2314C>A (p.Leu772Met)
c.2281C>A (p.Leu761Met)
c.2326C>A (p.Leu776Met)
17g.745730G>ACA497384263GEMIN4c.2313C>T (p.Gly771=)
c.2280C>T (p.Gly760=)
c.2325C>T (p.Gly775=)
 dbSNP gnomAD v2
17g.745730G>CCA497384265GEMIN4c.2313C>G (p.Gly771=)
c.2280C>G (p.Gly760=)
c.2325C>G (p.Gly775=)
17g.745730G=CA2242474391GEMIN4c.2313C= (p.Gly771=)
c.2280C= (p.Gly760=)
c.2325C= (p.Gly775=)
17g.745730G>TCA497384267GEMIN4c.2313C>A (p.Gly771=)
c.2280C>A (p.Gly760=)
c.2325C>A (p.Gly775=)
17g.745731C>ACA397504094GEMIN4c.2312G>T (p.Gly771Val)
c.2279G>T (p.Gly760Val)
c.2324G>T (p.Gly775Val)
17g.745731C>GCA397504092GEMIN4c.2312G>C (p.Gly771Ala)
c.2279G>C (p.Gly760Ala)
c.2324G>C (p.Gly775Ala)
17g.745731C>TCA397504093GEMIN4c.2312G>A (p.Gly771Asp)
c.2279G>A (p.Gly760Asp)
c.2324G>A (p.Gly775Asp)
17g.745732C>ACA397504095GEMIN4c.2311G>T (p.Gly771Cys)
c.2278G>T (p.Gly760Cys)
c.2323G>T (p.Gly775Cys)
17g.745732C>GCA397504096GEMIN4c.2311G>C (p.Gly771Arg)
c.2278G>C (p.Gly760Arg)
c.2323G>C (p.Gly775Arg)
17g.745732C>TCA397504097GEMIN4c.2311G>A (p.Gly771Ser)
c.2278G>A (p.Gly760Ser)
c.2323G>A (p.Gly775Ser)
 gnomAD v4
17g.745732_745737delCA2635152966GEMIN4c.2306_2311del (p.Thr769_Gly771delinsSer)
c.2273_2278del (p.Thr758_Gly760delinsSer)
c.2318_2323del (p.Thr773_Gly775delinsSer)
 gnomAD v4
17g.745733C>ACA497384276GEMIN4c.2310G>T (p.Val770=)
c.2277G>T (p.Val759=)
c.2322G>T (p.Val774=)
 gnomAD v4
17g.745733C>GCA497384277GEMIN4c.2310G>C (p.Val770=)
c.2277G>C (p.Val759=)
c.2322G>C (p.Val774=)
17g.745733C>TCA497384280GEMIN4c.2310G>A (p.Val770=)
c.2277G>A (p.Val759=)
c.2322G>A (p.Val774=)
17g.745734A>CCA397504098GEMIN4c.2309T>G (p.Val770Gly)
c.2276T>G (p.Val759Gly)
c.2321T>G (p.Val774Gly)
17g.745734A>GCA397504099GEMIN4c.2309T>C (p.Val770Ala)
c.2276T>C (p.Val759Ala)
c.2321T>C (p.Val774Ala)
17g.745734A>TCA397504100GEMIN4c.2309T>A (p.Val770Glu)
c.2276T>A (p.Val759Glu)
c.2321T>A (p.Val774Glu)
17g.745735C>ACA286713660GEMIN4c.2308G>T (p.Val770Leu)
c.2275G>T (p.Val759Leu)
c.2320G>T (p.Val774Leu)
 dbSNP
17g.745735C=CA2242474392GEMIN4c.2308G= (p.Val770=)
c.2275G= (p.Val759=)
c.2320G= (p.Val774=)
17g.745735C>GCA397504101GEMIN4c.2308G>C (p.Val770Leu)
c.2275G>C (p.Val759Leu)
c.2320G>C (p.Val774Leu)
17g.745735C>TCA397504102GEMIN4c.2308G>A (p.Val770Met)
c.2275G>A (p.Val759Met)
c.2320G>A (p.Val774Met)
17g.745736A>CCA497384285GEMIN4c.2307T>G (p.Thr769=)
c.2274T>G (p.Thr758=)
c.2319T>G (p.Thr773=)
17g.745736A>GCA497384287GEMIN4c.2307T>C (p.Thr769=)
c.2274T>C (p.Thr758=)
c.2319T>C (p.Thr773=)
17g.745736A>TCA497384289GEMIN4c.2307T>A (p.Thr769=)
c.2274T>A (p.Thr758=)
c.2319T>A (p.Thr773=)
17g.745737G>ACA397504103GEMIN4c.2306C>T (p.Thr769Ile)
c.2273C>T (p.Thr758Ile)
c.2318C>T (p.Thr773Ile)
17g.745737G>CCA397504104GEMIN4c.2306C>G (p.Thr769Ser)
c.2273C>G (p.Thr758Ser)
c.2318C>G (p.Thr773Ser)
17g.745737G>TCA397504105GEMIN4c.2306C>A (p.Thr769Asn)
c.2273C>A (p.Thr758Asn)
c.2318C>A (p.Thr773Asn)
17g.745738T>ACA397504106GEMIN4c.2305A>T (p.Thr769Ser)
c.2272A>T (p.Thr758Ser)
c.2317A>T (p.Thr773Ser)
17g.745738T>CCA397504108GEMIN4c.2305A>G (p.Thr769Ala)
c.2272A>G (p.Thr758Ala)
c.2317A>G (p.Thr773Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745738T>GCA397504107GEMIN4c.2305A>C (p.Thr769Pro)
c.2272A>C (p.Thr758Pro)
c.2317A>C (p.Thr773Pro)
17g.745738T=CA2242474393GEMIN4c.2305A= (p.Thr769=)
c.2272A= (p.Thr758=)
c.2317A= (p.Thr773=)
17g.745739C>ACA8262440GEMIN4c.2304G>T (p.Trp768Cys)
c.2271G>T (p.Trp757Cys)
c.2316G>T (p.Trp772Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745739C=CA2242474394GEMIN4c.2304G= (p.Trp768=)
c.2271G= (p.Trp757=)
c.2316G= (p.Trp772=)
17g.745739C>GCA397504110GEMIN4c.2304G>C (p.Trp768Cys)
c.2271G>C (p.Trp757Cys)
c.2316G>C (p.Trp772Cys)
 gnomAD v4
17g.745739C>TCA397504109GEMIN4c.2304G>A (p.Trp768Ter)
c.2271G>A (p.Trp757Ter)
c.2316G>A (p.Trp772Ter)
 gnomAD v4
17g.745740C>ACA397504111GEMIN4c.2303G>T (p.Trp768Leu)
c.2270G>T (p.Trp757Leu)
c.2315G>T (p.Trp772Leu)
 gnomAD v4
17g.745740C>GCA397504112GEMIN4c.2303G>C (p.Trp768Ser)
c.2270G>C (p.Trp757Ser)
c.2315G>C (p.Trp772Ser)
17g.745740C>TCA397504113GEMIN4c.2303G>A (p.Trp768Ter)
c.2270G>A (p.Trp757Ter)
c.2315G>A (p.Trp772Ter)
 gnomAD v4
17g.745741A=CA2242474395GEMIN4c.2302T= (p.Trp768=)
c.2269T= (p.Trp757=)
c.2314T= (p.Trp772=)
17g.745741A>CCA397504114GEMIN4c.2302T>G (p.Trp768Gly)
c.2269T>G (p.Trp757Gly)
c.2314T>G (p.Trp772Gly)
17g.745741A>GCA397504115GEMIN4c.2302T>C (p.Trp768Arg)
c.2269T>C (p.Trp757Arg)
c.2314T>C (p.Trp772Arg)
 dbSNP
17g.745741A>TCA397504116GEMIN4c.2302T>A (p.Trp768Arg)
c.2269T>A (p.Trp757Arg)
c.2314T>A (p.Trp772Arg)
17g.745742G>ACA8262441GEMIN4c.2301C>T (p.Asp767=)
c.2268C>T (p.Asp756=)
c.2313C>T (p.Asp771=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745742G>CCA397504117GEMIN4c.2301C>G (p.Asp767Glu)
c.2268C>G (p.Asp756Glu)
c.2313C>G (p.Asp771Glu)
17g.745742G=CA2242474396GEMIN4c.2301C= (p.Asp767=)
c.2268C= (p.Asp756=)
c.2313C= (p.Asp771=)
17g.745742G>TCA397504118GEMIN4c.2301C>A (p.Asp767Glu)
c.2268C>A (p.Asp756Glu)
c.2313C>A (p.Asp771Glu)
17g.745743T>ACA397504119GEMIN4c.2300A>T (p.Asp767Val)
c.2267A>T (p.Asp756Val)
c.2312A>T (p.Asp771Val)
17g.745743T>CCA397504120GEMIN4c.2300A>G (p.Asp767Gly)
c.2267A>G (p.Asp756Gly)
c.2312A>G (p.Asp771Gly)
 gnomAD v4
17g.745743T>GCA397504121GEMIN4c.2300A>C (p.Asp767Ala)
c.2267A>C (p.Asp756Ala)
c.2312A>C (p.Asp771Ala)
17g.745744C>ACA397504122GEMIN4c.2299G>T (p.Asp767Tyr)
c.2266G>T (p.Asp756Tyr)
c.2311G>T (p.Asp771Tyr)
17g.745744C>GCA397504124GEMIN4c.2299G>C (p.Asp767His)
c.2266G>C (p.Asp756His)
c.2311G>C (p.Asp771His)
17g.745744C>TCA397504123GEMIN4c.2299G>A (p.Asp767Asn)
c.2266G>A (p.Asp756Asn)
c.2311G>A (p.Asp771Asn)
17g.745745T>ACA497384303GEMIN4c.2298A>T (p.Leu766=)
c.2265A>T (p.Leu755=)
c.2310A>T (p.Leu770=)
17g.745745T>CCA497384305GEMIN4c.2298A>G (p.Leu766=)
c.2265A>G (p.Leu755=)
c.2310A>G (p.Leu770=)
17g.745745T>GCA497384306GEMIN4c.2298A>C (p.Leu766=)
c.2265A>C (p.Leu755=)
c.2310A>C (p.Leu770=)
17g.745746A=CA2242474397GEMIN4c.2297T= (p.Leu766=)
c.2264T= (p.Leu755=)
c.2309T= (p.Leu770=)
17g.745746A>CCA397504125GEMIN4c.2297T>G (p.Leu766Arg)
c.2264T>G (p.Leu755Arg)
c.2309T>G (p.Leu770Arg)
 gnomAD v4
17g.745746A>GCA397504126GEMIN4c.2297T>C (p.Leu766Pro)
c.2264T>C (p.Leu755Pro)
c.2309T>C (p.Leu770Pro)
 gnomAD v4
17g.745746A>TCA8262442GEMIN4c.2297T>A (p.Leu766Gln)
c.2264T>A (p.Leu755Gln)
c.2309T>A (p.Leu770Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745747G>ACA497384311GEMIN4c.2296C>T (p.Leu766=)
c.2263C>T (p.Leu755=)
c.2308C>T (p.Leu770=)
 gnomAD v4
17g.745747G>CCA397504127GEMIN4c.2296C>G (p.Leu766Val)
c.2263C>G (p.Leu755Val)
c.2308C>G (p.Leu770Val)
17g.745747G>TCA397504128GEMIN4c.2296C>A (p.Leu766Ile)
c.2263C>A (p.Leu755Ile)
c.2308C>A (p.Leu770Ile)
17g.745748C>ACA397504129GEMIN4c.2295G>T (p.Gln765His)
c.2262G>T (p.Gln754His)
c.2307G>T (p.Gln769His)
 gnomAD v4
17g.745748C>GCA397504130GEMIN4c.2295G>C (p.Gln765His)
c.2262G>C (p.Gln754His)
c.2307G>C (p.Gln769His)
17g.745748C>TCA497384313GEMIN4c.2295G>A (p.Gln765=)
c.2262G>A (p.Gln754=)
c.2307G>A (p.Gln769=)
 gnomAD v4
17g.745749T>ACA397504131GEMIN4c.2294A>T (p.Gln765Leu)
c.2261A>T (p.Gln754Leu)
c.2306A>T (p.Gln769Leu)
17g.745749T>CCA397504132GEMIN4c.2294A>G (p.Gln765Arg)
c.2261A>G (p.Gln754Arg)
c.2306A>G (p.Gln769Arg)
17g.745749T>GCA397504133GEMIN4c.2294A>C (p.Gln765Pro)
c.2261A>C (p.Gln754Pro)
c.2306A>C (p.Gln769Pro)
17g.745750G>ACA397504135GEMIN4c.2293C>T (p.Gln765Ter)
c.2260C>T (p.Gln754Ter)
c.2305C>T (p.Gln769Ter)
17g.745750G>CCA397504136GEMIN4c.2293C>G (p.Gln765Glu)
c.2260C>G (p.Gln754Glu)
c.2305C>G (p.Gln769Glu)
 dbSNP gnomAD v4
17g.745750G=CA2242474398GEMIN4c.2293C= (p.Gln765=)
c.2260C= (p.Gln754=)
c.2305C= (p.Gln769=)
17g.745750G>TCA397504134GEMIN4c.2293C>A (p.Gln765Lys)
c.2260C>A (p.Gln754Lys)
c.2305C>A (p.Gln769Lys)
17g.745751T>ACA397504137GEMIN4c.2292A>T (p.Glu764Asp)
c.2259A>T (p.Glu753Asp)
c.2304A>T (p.Glu768Asp)
17g.745751T>CCA497384319GEMIN4c.2292A>G (p.Glu764=)
c.2259A>G (p.Glu753=)
c.2304A>G (p.Glu768=)
 gnomAD v4
17g.745751T>GCA397504138GEMIN4c.2292A>C (p.Glu764Asp)
c.2259A>C (p.Glu753Asp)
c.2304A>C (p.Glu768Asp)
17g.745752T>ACA397504139GEMIN4c.2291A>T (p.Glu764Val)
c.2258A>T (p.Glu753Val)
c.2303A>T (p.Glu768Val)
17g.745752T>CCA397504140GEMIN4c.2291A>G (p.Glu764Gly)
c.2258A>G (p.Glu753Gly)
c.2303A>G (p.Glu768Gly)
17g.745752T>GCA397504141GEMIN4c.2291A>C (p.Glu764Ala)
c.2258A>C (p.Glu753Ala)
c.2303A>C (p.Glu768Ala)
17g.745753C>ACA397504142GEMIN4c.2290G>T (p.Glu764Ter)
c.2257G>T (p.Glu753Ter)
c.2302G>T (p.Glu768Ter)
17g.745753C=CA2242474399GEMIN4c.2290G= (p.Glu764=)
c.2257G= (p.Glu753=)
c.2302G= (p.Glu768=)
17g.745753C>GCA397504143GEMIN4c.2290G>C (p.Glu764Gln)
c.2257G>C (p.Glu753Gln)
c.2302G>C (p.Glu768Gln)
17g.745753C>TCA397504144GEMIN4c.2290G>A (p.Glu764Lys)
c.2257G>A (p.Glu753Lys)
c.2302G>A (p.Glu768Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.745754T>ACA397504145GEMIN4c.2289A>T (p.Leu763Phe)
c.2256A>T (p.Leu752Phe)
c.2301A>T (p.Leu767Phe)
17g.745754T>CCA497384325GEMIN4c.2289A>G (p.Leu763=)
c.2256A>G (p.Leu752=)
c.2301A>G (p.Leu767=)
17g.745754T>GCA397504146GEMIN4c.2289A>C (p.Leu763Phe)
c.2256A>C (p.Leu752Phe)
c.2301A>C (p.Leu767Phe)
17g.745755A>CCA397504147GEMIN4c.2288T>G (p.Leu763Ter)
c.2255T>G (p.Leu752Ter)
c.2300T>G (p.Leu767Ter)
17g.745755A>GCA397504148GEMIN4c.2288T>C (p.Leu763Ser)
c.2255T>C (p.Leu752Ser)
c.2300T>C (p.Leu767Ser)
17g.745755A>TCA397504149GEMIN4c.2288T>A (p.Leu763Ter)
c.2255T>A (p.Leu752Ter)
c.2300T>A (p.Leu767Ter)
17g.745756A>CCA397504151GEMIN4c.2287T>G (p.Leu763Val)
c.2254T>G (p.Leu752Val)
c.2299T>G (p.Leu767Val)
17g.745756A>GCA497384328GEMIN4c.2287T>C (p.Leu763=)
c.2254T>C (p.Leu752=)
c.2299T>C (p.Leu767=)
17g.745756A>TCA397504150GEMIN4c.2287T>A (p.Leu763Ile)
c.2254T>A (p.Leu752Ile)
c.2299T>A (p.Leu767Ile)
17g.745756_745757delinsACCA2242474400GEMIN4c.2286_2287delinsGT (p.Lys762=)
c.2253_2254delinsGT (p.Lys751=)
c.2298_2299delinsGT (p.Lys766=)
17g.745757delCA624456766GEMIN4c.2286del (p.Lys762AsnfsTer2)
c.2253del (p.Lys751AsnfsTer2)
c.2298del (p.Lys766AsnfsTer2)
 dbSNP gnomAD v2 gnomAD v4
17g.745757C>ACA397504152GEMIN4c.2286G>T (p.Lys762Asn)
c.2253G>T (p.Lys751Asn)
c.2298G>T (p.Lys766Asn)
17g.745757C>GCA397504153GEMIN4c.2286G>C (p.Lys762Asn)
c.2253G>C (p.Lys751Asn)
c.2298G>C (p.Lys766Asn)
17g.745757C>TCA497384332GEMIN4c.2286G>A (p.Lys762=)
c.2253G>A (p.Lys751=)
c.2298G>A (p.Lys766=)
 gnomAD v4
17g.745758T>ACA397504154GEMIN4c.2285A>T (p.Lys762Met)
c.2252A>T (p.Lys751Met)
c.2297A>T (p.Lys766Met)
17g.745758T>CCA397504155GEMIN4c.2285A>G (p.Lys762Arg)
c.2252A>G (p.Lys751Arg)
c.2297A>G (p.Lys766Arg)
17g.745758T>GCA397504156GEMIN4c.2285A>C (p.Lys762Thr)
c.2252A>C (p.Lys751Thr)
c.2297A>C (p.Lys766Thr)
17g.745759T>ACA397504157GEMIN4c.2284A>T (p.Lys762Ter)
c.2251A>T (p.Lys751Ter)
c.2296A>T (p.Lys766Ter)
17g.745759T>CCA397504158GEMIN4c.2284A>G (p.Lys762Glu)
c.2251A>G (p.Lys751Glu)
c.2296A>G (p.Lys766Glu)
17g.745759T>GCA397504159GEMIN4c.2284A>C (p.Lys762Gln)
c.2251A>C (p.Lys751Gln)
c.2296A>C (p.Lys766Gln)
17g.745760G>ACA497384335GEMIN4c.2283C>T (p.Arg761=)
c.2250C>T (p.Arg750=)
c.2295C>T (p.Arg765=)
 gnomAD v4
17g.745760G>CCA497384336GEMIN4c.2283C>G (p.Arg761=)
c.2250C>G (p.Arg750=)
c.2295C>G (p.Arg765=)
17g.745760G=CA2242474401GEMIN4c.2283C= (p.Arg761=)
c.2250C= (p.Arg750=)
c.2295C= (p.Arg765=)
17g.745760G>TCA497384338GEMIN4c.2283C>A (p.Arg761=)
c.2250C>A (p.Arg750=)
c.2295C>A (p.Arg765=)
 dbSNP gnomAD v2 gnomAD v4
17g.745761C>ACA8262443GEMIN4c.2282G>T (p.Arg761Leu)
c.2249G>T (p.Arg750Leu)
c.2294G>T (p.Arg765Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745761C=CA2242474402GEMIN4c.2282G= (p.Arg761=)
c.2249G= (p.Arg750=)
c.2294G= (p.Arg765=)
17g.745761C>GCA397504160GEMIN4c.2282G>C (p.Arg761Pro)
c.2249G>C (p.Arg750Pro)
c.2294G>C (p.Arg765Pro)
17g.745761C>TCA397504161GEMIN4c.2282G>A (p.Arg761His)
c.2249G>A (p.Arg750His)
c.2294G>A (p.Arg765His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745762G>ACA8262444GEMIN4c.2281C>T (p.Arg761Cys)
c.2248C>T (p.Arg750Cys)
c.2293C>T (p.Arg765Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745762G>CCA397504162GEMIN4c.2281C>G (p.Arg761Gly)
c.2248C>G (p.Arg750Gly)
c.2293C>G (p.Arg765Gly)
17g.745762G=CA2242474403GEMIN4c.2281C= (p.Arg761=)
c.2248C= (p.Arg750=)
c.2293C= (p.Arg765=)
17g.745762G>TCA397504163GEMIN4c.2281C>A (p.Arg761Ser)
c.2248C>A (p.Arg750Ser)
c.2293C>A (p.Arg765Ser)
17g.745763G>ACA497384340GEMIN4c.2280C>T (p.His760=)
c.2247C>T (p.His749=)
c.2292C>T (p.His764=)
 gnomAD v4
17g.745763G>CCA397504164GEMIN4c.2280C>G (p.His760Gln)
c.2247C>G (p.His749Gln)
c.2292C>G (p.His764Gln)
17g.745763G>TCA397504165GEMIN4c.2280C>A (p.His760Gln)
c.2247C>A (p.His749Gln)
c.2292C>A (p.His764Gln)
17g.745764T>ACA397504166GEMIN4c.2279A>T (p.His760Leu)
c.2246A>T (p.His749Leu)
c.2291A>T (p.His764Leu)
17g.745764T>CCA397504168GEMIN4c.2279A>G (p.His760Arg)
c.2246A>G (p.His749Arg)
c.2291A>G (p.His764Arg)
17g.745764T>GCA397504167GEMIN4c.2279A>C (p.His760Pro)
c.2246A>C (p.His749Pro)
c.2291A>C (p.His764Pro)
 gnomAD v4
17g.745765G>ACA397504169GEMIN4c.2278C>T (p.His760Tyr)
c.2245C>T (p.His749Tyr)
c.2290C>T (p.His764Tyr)
17g.745765G>CCA397504171GEMIN4c.2278C>G (p.His760Asp)
c.2245C>G (p.His749Asp)
c.2290C>G (p.His764Asp)
17g.745765G>TCA397504170GEMIN4c.2278C>A (p.His760Asn)
c.2245C>A (p.His749Asn)
c.2290C>A (p.His764Asn)
17g.745766G>ACA497384343GEMIN4c.2277C>T (p.Leu759=)
c.2244C>T (p.Leu748=)
c.2289C>T (p.Leu763=)
 dbSNP gnomAD v3 gnomAD v4
17g.745766G>CCA497384345GEMIN4c.2277C>G (p.Leu759=)
c.2244C>G (p.Leu748=)
c.2289C>G (p.Leu763=)
17g.745766G=CA2242474404GEMIN4c.2277C= (p.Leu759=)
c.2244C= (p.Leu748=)
c.2289C= (p.Leu763=)
17g.745766G>TCA497384346GEMIN4c.2277C>A (p.Leu759=)
c.2244C>A (p.Leu748=)
c.2289C>A (p.Leu763=)
17g.745767A>CCA397504172GEMIN4c.2276T>G (p.Leu759Arg)
c.2243T>G (p.Leu748Arg)
c.2288T>G (p.Leu763Arg)
17g.745767A>GCA397504173GEMIN4c.2276T>C (p.Leu759Pro)
c.2243T>C (p.Leu748Pro)
c.2288T>C (p.Leu763Pro)
 gnomAD v4
17g.745767A>TCA397504174GEMIN4c.2276T>A (p.Leu759His)
c.2243T>A (p.Leu748His)
c.2288T>A (p.Leu763His)
17g.745768G>ACA397504175GEMIN4c.2275C>T (p.Leu759Phe)
c.2242C>T (p.Leu748Phe)
c.2287C>T (p.Leu763Phe)
17g.745768G>CCA397504176GEMIN4c.2275C>G (p.Leu759Val)
c.2242C>G (p.Leu748Val)
c.2287C>G (p.Leu763Val)
17g.745768G>TCA397504177GEMIN4c.2275C>A (p.Leu759Ile)
c.2242C>A (p.Leu748Ile)
c.2287C>A (p.Leu763Ile)
17g.745769C>ACA397504178GEMIN4c.2274G>T (p.Trp758Cys)
c.2241G>T (p.Trp747Cys)
c.2286G>T (p.Trp762Cys)
17g.745769C=CA2242474405GEMIN4c.2274G= (p.Trp758=)
c.2241G= (p.Trp747=)
c.2286G= (p.Trp762=)
17g.745769C>GCA397504179GEMIN4c.2274G>C (p.Trp758Cys)
c.2241G>C (p.Trp747Cys)
c.2286G>C (p.Trp762Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.745769C>TCA397504180GEMIN4c.2274G>A (p.Trp758Ter)
c.2241G>A (p.Trp747Ter)
c.2286G>A (p.Trp762Ter)
17g.745770C>ACA397504181GEMIN4c.2273G>T (p.Trp758Leu)
c.2240G>T (p.Trp747Leu)
c.2285G>T (p.Trp762Leu)
17g.745770C=CA2242474406GEMIN4c.2273G= (p.Trp758=)
c.2240G= (p.Trp747=)
c.2285G= (p.Trp762=)
17g.745770C>GCA8262445GEMIN4c.2273G>C (p.Trp758Ser)
c.2240G>C (p.Trp747Ser)
c.2285G>C (p.Trp762Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745770C>TCA397504182GEMIN4c.2273G>A (p.Trp758Ter)
c.2240G>A (p.Trp747Ter)
c.2285G>A (p.Trp762Ter)
17g.745771A>CCA397504185GEMIN4c.2272T>G (p.Trp758Gly)
c.2239T>G (p.Trp747Gly)
c.2284T>G (p.Trp762Gly)
17g.745771A>GCA397504183GEMIN4c.2272T>C (p.Trp758Arg)
c.2239T>C (p.Trp747Arg)
c.2284T>C (p.Trp762Arg)
17g.745771A>TCA397504184GEMIN4c.2272T>A (p.Trp758Arg)
c.2239T>A (p.Trp747Arg)
c.2284T>A (p.Trp762Arg)
17g.745772G>ACA497384353GEMIN4c.2271C>T (p.Ser757=)
c.2238C>T (p.Ser746=)
c.2283C>T (p.Ser761=)
 dbSNP gnomAD v2 gnomAD v4
17g.745772G>CCA497384354GEMIN4c.2271C>G (p.Ser757=)
c.2238C>G (p.Ser746=)
c.2283C>G (p.Ser761=)
 dbSNP gnomAD v4
17g.745772G=CA2242474407GEMIN4c.2271C= (p.Ser757=)
c.2238C= (p.Ser746=)
c.2283C= (p.Ser761=)
17g.745772G>TCA497384355GEMIN4c.2271C>A (p.Ser757=)
c.2238C>A (p.Ser746=)
c.2283C>A (p.Ser761=)
 COSMIC COSMIC
17g.745773G>ACA286713661GEMIN4c.2270C>T (p.Ser757Phe)
c.2237C>T (p.Ser746Phe)
c.2282C>T (p.Ser761Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.745773G>CCA8262446GEMIN4c.2270C>G (p.Ser757Cys)
c.2237C>G (p.Ser746Cys)
c.2282C>G (p.Ser761Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745773G=CA2242474408GEMIN4c.2270C= (p.Ser757=)
c.2237C= (p.Ser746=)
c.2282C= (p.Ser761=)
17g.745773G>TCA397504186GEMIN4c.2270C>A (p.Ser757Tyr)
c.2237C>A (p.Ser746Tyr)
c.2282C>A (p.Ser761Tyr)
17g.745774A>CCA397504187GEMIN4c.2269T>G (p.Ser757Ala)
c.2236T>G (p.Ser746Ala)
c.2281T>G (p.Ser761Ala)
17g.745774A>GCA397504188GEMIN4c.2269T>C (p.Ser757Pro)
c.2236T>C (p.Ser746Pro)
c.2281T>C (p.Ser761Pro)
17g.745774A>TCA397504189GEMIN4c.2269T>A (p.Ser757Thr)
c.2236T>A (p.Ser746Thr)
c.2281T>A (p.Ser761Thr)

Number of alleles fetched