Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.745775C>ACA497384360GEMIN4c.2268G>T (p.Leu756=)
c.2235G>T (p.Leu745=)
c.2280G>T (p.Leu760=)
17g.745775C>GCA497384361GEMIN4c.2268G>C (p.Leu756=)
c.2235G>C (p.Leu745=)
c.2280G>C (p.Leu760=)
17g.745775C>TCA497384362GEMIN4c.2268G>A (p.Leu756=)
c.2235G>A (p.Leu745=)
c.2280G>A (p.Leu760=)
17g.745776A=CA2242474409GEMIN4c.2267T= (p.Leu756=)
c.2234T= (p.Leu745=)
c.2279T= (p.Leu760=)
17g.745776A>CCA397504190GEMIN4c.2267T>G (p.Leu756Arg)
c.2234T>G (p.Leu745Arg)
c.2279T>G (p.Leu760Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745776A>GCA397504191GEMIN4c.2267T>C (p.Leu756Pro)
c.2234T>C (p.Leu745Pro)
c.2279T>C (p.Leu760Pro)
17g.745776A>TCA397504192GEMIN4c.2267T>A (p.Leu756Gln)
c.2234T>A (p.Leu745Gln)
c.2279T>A (p.Leu760Gln)
17g.745777G>ACA497384366GEMIN4c.2266C>T (p.Leu756=)
c.2233C>T (p.Leu745=)
c.2278C>T (p.Leu760=)
 COSMIC COSMIC
17g.745777G>CCA397504193GEMIN4c.2266C>G (p.Leu756Val)
c.2233C>G (p.Leu745Val)
c.2278C>G (p.Leu760Val)
17g.745777G=CA2242474410GEMIN4c.2266C= (p.Leu756=)
c.2233C= (p.Leu745=)
c.2278C= (p.Leu760=)
17g.745777G>TCA8262447GEMIN4c.2266C>A (p.Leu756Met)
c.2233C>A (p.Leu745Met)
c.2278C>A (p.Leu760Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745778G>ACA497384367GEMIN4c.2265C>T (p.Ser755=)
c.2232C>T (p.Ser744=)
c.2277C>T (p.Ser759=)
 dbSNP gnomAD v2 gnomAD v4
17g.745778G>CCA497384368GEMIN4c.2265C>G (p.Ser755=)
c.2232C>G (p.Ser744=)
c.2277C>G (p.Ser759=)
 gnomAD v4
17g.745778G=CA2242474411GEMIN4c.2265C= (p.Ser755=)
c.2232C= (p.Ser744=)
c.2277C= (p.Ser759=)
17g.745778G>TCA497384369GEMIN4c.2265C>A (p.Ser755=)
c.2232C>A (p.Ser744=)
c.2277C>A (p.Ser759=)
 gnomAD v4
17g.745779G>ACA8262448GEMIN4c.2264C>T (p.Ser755Phe)
c.2231C>T (p.Ser744Phe)
c.2276C>T (p.Ser759Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745779G>CCA397504195GEMIN4c.2264C>G (p.Ser755Cys)
c.2231C>G (p.Ser744Cys)
c.2276C>G (p.Ser759Cys)
17g.745779G=CA2242474412GEMIN4c.2264C= (p.Ser755=)
c.2231C= (p.Ser744=)
c.2276C= (p.Ser759=)
17g.745779G>TCA397504194GEMIN4c.2264C>A (p.Ser755Tyr)
c.2231C>A (p.Ser744Tyr)
c.2276C>A (p.Ser759Tyr)
 gnomAD v4
17g.745780A>CCA397504196GEMIN4c.2263T>G (p.Ser755Ala)
c.2230T>G (p.Ser744Ala)
c.2275T>G (p.Ser759Ala)
17g.745780A>GCA397504197GEMIN4c.2263T>C (p.Ser755Pro)
c.2230T>C (p.Ser744Pro)
c.2275T>C (p.Ser759Pro)
17g.745780A>TCA397504198GEMIN4c.2263T>A (p.Ser755Thr)
c.2230T>A (p.Ser744Thr)
c.2275T>A (p.Ser759Thr)
17g.745781C>ACA397504199GEMIN4c.2262G>T (p.Lys754Asn)
c.2229G>T (p.Lys743Asn)
c.2274G>T (p.Lys758Asn)
17g.745781C>GCA397504200GEMIN4c.2262G>C (p.Lys754Asn)
c.2229G>C (p.Lys743Asn)
c.2274G>C (p.Lys758Asn)
17g.745781C>TCA497384373GEMIN4c.2262G>A (p.Lys754=)
c.2229G>A (p.Lys743=)
c.2274G>A (p.Lys758=)
 gnomAD v2
17g.745781_745782delinsCTCA2242474413GEMIN4c.2261_2262delinsAG (p.Lys754=)
c.2228_2229delinsAG (p.Lys743=)
c.2273_2274delinsAG (p.Lys758=)
17g.745782T>ACA397504201GEMIN4c.2261A>T (p.Lys754Met)
c.2228A>T (p.Lys743Met)
c.2273A>T (p.Lys758Met)
17g.745782T>CCA397504202GEMIN4c.2261A>G (p.Lys754Arg)
c.2228A>G (p.Lys743Arg)
c.2273A>G (p.Lys758Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745782T>GCA397504203GEMIN4c.2261A>C (p.Lys754Thr)
c.2228A>C (p.Lys743Thr)
c.2273A>C (p.Lys758Thr)
17g.745782T=CA2242474414GEMIN4c.2261A= (p.Lys754=)
c.2228A= (p.Lys743=)
c.2273A= (p.Lys758=)
17g.745783delCA624456767GEMIN4c.2261del (p.Lys754SerfsTer10)
c.2228del (p.Lys743SerfsTer10)
c.2273del (p.Lys758SerfsTer10)
 dbSNP gnomAD v2 gnomAD v4
17g.745783T>ACA397504204GEMIN4c.2260A>T (p.Lys754Ter)
c.2227A>T (p.Lys743Ter)
c.2272A>T (p.Lys758Ter)
17g.745783T>CCA397504205GEMIN4c.2260A>G (p.Lys754Glu)
c.2227A>G (p.Lys743Glu)
c.2272A>G (p.Lys758Glu)
 gnomAD v4
17g.745783T>GCA397504206GEMIN4c.2260A>C (p.Lys754Gln)
c.2227A>C (p.Lys743Gln)
c.2272A>C (p.Lys758Gln)
17g.745784G>ACA497384376GEMIN4c.2259C>T (p.Ile753=)
c.2226C>T (p.Ile742=)
c.2271C>T (p.Ile757=)
17g.745784G>CCA397504207GEMIN4c.2259C>G (p.Ile753Met)
c.2226C>G (p.Ile742Met)
c.2271C>G (p.Ile757Met)
17g.745784G>TCA497384377GEMIN4c.2259C>A (p.Ile753=)
c.2226C>A (p.Ile742=)
c.2271C>A (p.Ile757=)
 gnomAD v4
17g.745785A>CCA397504210GEMIN4c.2258T>G (p.Ile753Ser)
c.2225T>G (p.Ile742Ser)
c.2270T>G (p.Ile757Ser)
17g.745785A>GCA397504209GEMIN4c.2258T>C (p.Ile753Thr)
c.2225T>C (p.Ile742Thr)
c.2270T>C (p.Ile757Thr)
17g.745785A>TCA397504208GEMIN4c.2258T>A (p.Ile753Asn)
c.2225T>A (p.Ile742Asn)
c.2270T>A (p.Ile757Asn)
17g.745786T>ACA397504211GEMIN4c.2257A>T (p.Ile753Phe)
c.2224A>T (p.Ile742Phe)
c.2269A>T (p.Ile757Phe)
17g.745786T>CCA397504212GEMIN4c.2257A>G (p.Ile753Val)
c.2224A>G (p.Ile742Val)
c.2269A>G (p.Ile757Val)
 dbSNP gnomAD v4
17g.745786T>GCA397504213GEMIN4c.2257A>C (p.Ile753Leu)
c.2224A>C (p.Ile742Leu)
c.2269A>C (p.Ile757Leu)
17g.745786T=CA2242474415GEMIN4c.2257A= (p.Ile753=)
c.2224A= (p.Ile742=)
c.2269A= (p.Ile757=)
17g.745787C>ACA397504214GEMIN4c.2256G>T (p.Trp752Cys)
c.2223G>T (p.Trp741Cys)
c.2268G>T (p.Trp756Cys)
 gnomAD v4
17g.745787C>GCA397504215GEMIN4c.2256G>C (p.Trp752Cys)
c.2223G>C (p.Trp741Cys)
c.2268G>C (p.Trp756Cys)
17g.745787C>TCA397504216GEMIN4c.2256G>A (p.Trp752Ter)
c.2223G>A (p.Trp741Ter)
c.2268G>A (p.Trp756Ter)
17g.745787_745788delinsTTCA645586969GEMIN4c.2255_2256delinsAA (p.Trp752Ter)
c.2222_2223delinsAA (p.Trp741Ter)
c.2267_2268delinsAA (p.Trp756Ter)
 COSMIC COSMIC
17g.745788C>ACA397504217GEMIN4c.2255G>T (p.Trp752Leu)
c.2222G>T (p.Trp741Leu)
c.2267G>T (p.Trp756Leu)
17g.745788C>GCA397504218GEMIN4c.2255G>C (p.Trp752Ser)
c.2222G>C (p.Trp741Ser)
c.2267G>C (p.Trp756Ser)
17g.745788C>TCA397504219GEMIN4c.2255G>A (p.Trp752Ter)
c.2222G>A (p.Trp741Ter)
c.2267G>A (p.Trp756Ter)
 gnomAD v4
17g.745789A>CCA397504220GEMIN4c.2254T>G (p.Trp752Gly)
c.2221T>G (p.Trp741Gly)
c.2266T>G (p.Trp756Gly)
17g.745789A>GCA397504221GEMIN4c.2254T>C (p.Trp752Arg)
c.2221T>C (p.Trp741Arg)
c.2266T>C (p.Trp756Arg)
17g.745789A>TCA397504222GEMIN4c.2254T>A (p.Trp752Arg)
c.2221T>A (p.Trp741Arg)
c.2266T>A (p.Trp756Arg)
17g.745790G>ACA497384383GEMIN4c.2253C>T (p.Val751=)
c.2220C>T (p.Val740=)
c.2265C>T (p.Val755=)
17g.745790G>CCA497384385GEMIN4c.2253C>G (p.Val751=)
c.2220C>G (p.Val740=)
c.2265C>G (p.Val755=)
17g.745790G>TCA497384387GEMIN4c.2253C>A (p.Val751=)
c.2220C>A (p.Val740=)
c.2265C>A (p.Val755=)
17g.745791A>CCA397504225GEMIN4c.2252T>G (p.Val751Gly)
c.2219T>G (p.Val740Gly)
c.2264T>G (p.Val755Gly)
17g.745791A>GCA397504224GEMIN4c.2252T>C (p.Val751Ala)
c.2219T>C (p.Val740Ala)
c.2264T>C (p.Val755Ala)
17g.745791A>TCA397504223GEMIN4c.2252T>A (p.Val751Asp)
c.2219T>A (p.Val740Asp)
c.2264T>A (p.Val755Asp)
17g.745792C>ACA397504226GEMIN4c.2251G>T (p.Val751Phe)
c.2218G>T (p.Val740Phe)
c.2263G>T (p.Val755Phe)
17g.745792C>GCA397504228GEMIN4c.2251G>C (p.Val751Leu)
c.2218G>C (p.Val740Leu)
c.2263G>C (p.Val755Leu)
17g.745792C>TCA397504227GEMIN4c.2251G>A (p.Val751Ile)
c.2218G>A (p.Val740Ile)
c.2263G>A (p.Val755Ile)
 gnomAD v4
17g.745793A>CCA397504229GEMIN4c.2250T>G (p.Asp750Glu)
c.2217T>G (p.Asp739Glu)
c.2262T>G (p.Asp754Glu)
17g.745793A>GCA497384388GEMIN4c.2250T>C (p.Asp750=)
c.2217T>C (p.Asp739=)
c.2262T>C (p.Asp754=)
17g.745793A>TCA397504230GEMIN4c.2250T>A (p.Asp750Glu)
c.2217T>A (p.Asp739Glu)
c.2262T>A (p.Asp754Glu)
17g.745794T>ACA397504231GEMIN4c.2249A>T (p.Asp750Val)
c.2216A>T (p.Asp739Val)
c.2261A>T (p.Asp754Val)
17g.745794T>CCA397504232GEMIN4c.2249A>G (p.Asp750Gly)
c.2216A>G (p.Asp739Gly)
c.2261A>G (p.Asp754Gly)
17g.745794T>GCA397504233GEMIN4c.2249A>C (p.Asp750Ala)
c.2216A>C (p.Asp739Ala)
c.2261A>C (p.Asp754Ala)
17g.745795C>ACA397504234GEMIN4c.2248G>T (p.Asp750Tyr)
c.2215G>T (p.Asp739Tyr)
c.2260G>T (p.Asp754Tyr)
17g.745795C>GCA397504235GEMIN4c.2248G>C (p.Asp750His)
c.2215G>C (p.Asp739His)
c.2260G>C (p.Asp754His)
17g.745795C>TCA397504236GEMIN4c.2248G>A (p.Asp750Asn)
c.2215G>A (p.Asp739Asn)
c.2260G>A (p.Asp754Asn)
17g.745796C>ACA497384391GEMIN4c.2247G>T (p.Pro749=)
c.2214G>T (p.Pro738=)
c.2259G>T (p.Pro753=)
 gnomAD v4
17g.745796C=CA2242474416GEMIN4c.2247G= (p.Pro749=)
c.2214G= (p.Pro738=)
c.2259G= (p.Pro753=)
17g.745796C>GCA497384393GEMIN4c.2247G>C (p.Pro749=)
c.2214G>C (p.Pro738=)
c.2259G>C (p.Pro753=)
17g.745796C>TCA8262449GEMIN4c.2247G>A (p.Pro749=)
c.2214G>A (p.Pro738=)
c.2259G>A (p.Pro753=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745797G>ACA8262450GEMIN4c.2246C>T (p.Pro749Leu)
c.2213C>T (p.Pro738Leu)
c.2258C>T (p.Pro753Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745797G>CCA397504237GEMIN4c.2246C>G (p.Pro749Arg)
c.2213C>G (p.Pro738Arg)
c.2258C>G (p.Pro753Arg)
 gnomAD v4
17g.745797G=CA2242474417GEMIN4c.2246C= (p.Pro749=)
c.2213C= (p.Pro738=)
c.2258C= (p.Pro753=)
17g.745797G>TCA397504238GEMIN4c.2246C>A (p.Pro749Gln)
c.2213C>A (p.Pro738Gln)
c.2258C>A (p.Pro753Gln)
17g.745798G>ACA397504240GEMIN4c.2245C>T (p.Pro749Ser)
c.2212C>T (p.Pro738Ser)
c.2257C>T (p.Pro753Ser)
 dbSNP gnomAD v2
17g.745798G>CCA8262451GEMIN4c.2245C>G (p.Pro749Ala)
c.2212C>G (p.Pro738Ala)
c.2257C>G (p.Pro753Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745798G=CA2242474418GEMIN4c.2245C= (p.Pro749=)
c.2212C= (p.Pro738=)
c.2257C= (p.Pro753=)
17g.745798G>TCA397504239GEMIN4c.2245C>A (p.Pro749Thr)
c.2212C>A (p.Pro738Thr)
c.2257C>A (p.Pro753Thr)
17g.745799G>ACA497384396GEMIN4c.2244C>T (p.Ser748=)
c.2211C>T (p.Ser737=)
c.2256C>T (p.Ser752=)
 dbSNP
17g.745799G>CCA497384397GEMIN4c.2244C>G (p.Ser748=)
c.2211C>G (p.Ser737=)
c.2256C>G (p.Ser752=)
17g.745799G=CA2242474419GEMIN4c.2244C= (p.Ser748=)
c.2211C= (p.Ser737=)
c.2256C= (p.Ser752=)
17g.745799G>TCA497384398GEMIN4c.2244C>A (p.Ser748=)
c.2211C>A (p.Ser737=)
c.2256C>A (p.Ser752=)
 dbSNP gnomAD v3 gnomAD v4
17g.745800G>ACA397504241GEMIN4c.2243C>T (p.Ser748Phe)
c.2210C>T (p.Ser737Phe)
c.2255C>T (p.Ser752Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.745800G>CCA397504242GEMIN4c.2243C>G (p.Ser748Cys)
c.2210C>G (p.Ser737Cys)
c.2255C>G (p.Ser752Cys)
 gnomAD v4
17g.745800G=CA2242474420GEMIN4c.2243C= (p.Ser748=)
c.2210C= (p.Ser737=)
c.2255C= (p.Ser752=)
17g.745800G>TCA397504243GEMIN4c.2243C>A (p.Ser748Tyr)
c.2210C>A (p.Ser737Tyr)
c.2255C>A (p.Ser752Tyr)
17g.745801A>CCA397504244GEMIN4c.2242T>G (p.Ser748Ala)
c.2209T>G (p.Ser737Ala)
c.2254T>G (p.Ser752Ala)
17g.745801A>GCA397504245GEMIN4c.2242T>C (p.Ser748Pro)
c.2209T>C (p.Ser737Pro)
c.2254T>C (p.Ser752Pro)
17g.745801A>TCA397504246GEMIN4c.2242T>A (p.Ser748Thr)
c.2209T>A (p.Ser737Thr)
c.2254T>A (p.Ser752Thr)
17g.745803_745805delCA2635153094GEMIN4c.2240_2242del (p.Phe747del)
c.2207_2209del (p.Phe736del)
c.2252_2254del (p.Phe751del)
 gnomAD v4
17g.745802G>ACA497384402GEMIN4c.2241C>T (p.Phe747=)
c.2208C>T (p.Phe736=)
c.2253C>T (p.Phe751=)
17g.745802G>CCA397504247GEMIN4c.2241C>G (p.Phe747Leu)
c.2208C>G (p.Phe736Leu)
c.2253C>G (p.Phe751Leu)
17g.745802G>TCA397504248GEMIN4c.2241C>A (p.Phe747Leu)
c.2208C>A (p.Phe736Leu)
c.2253C>A (p.Phe751Leu)
17g.745803A>CCA397504249GEMIN4c.2240T>G (p.Phe747Cys)
c.2207T>G (p.Phe736Cys)
c.2252T>G (p.Phe751Cys)
17g.745803A>GCA397504250GEMIN4c.2240T>C (p.Phe747Ser)
c.2207T>C (p.Phe736Ser)
c.2252T>C (p.Phe751Ser)
17g.745803A>TCA397504251GEMIN4c.2240T>A (p.Phe747Tyr)
c.2207T>A (p.Phe736Tyr)
c.2252T>A (p.Phe751Tyr)
17g.745804A=CA2242474421GEMIN4c.2239T= (p.Phe747=)
c.2206T= (p.Phe736=)
c.2251T= (p.Phe751=)
17g.745804A>CCA397504254GEMIN4c.2239T>G (p.Phe747Val)
c.2206T>G (p.Phe736Val)
c.2251T>G (p.Phe751Val)
17g.745804A>GCA397504253GEMIN4c.2239T>C (p.Phe747Leu)
c.2206T>C (p.Phe736Leu)
c.2251T>C (p.Phe751Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745804A>TCA397504252GEMIN4c.2239T>A (p.Phe747Ile)
c.2206T>A (p.Phe736Ile)
c.2251T>A (p.Phe751Ile)
 gnomAD v4

Number of alleles fetched