Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745527_745530delinsTCCACA2242474292GEMIN4c.2513_2516delinsTGGA (p.Val838=)
c.2480_2483delinsTGGA (p.Val827=)
c.2525_2528delinsTGGA (p.Val842=)
17g.745534_745536delCA8262404GEMIN4c.2513_2515del (p.Val838del)
c.2480_2482del (p.Val827del)
c.2525_2527del (p.Val842del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745530A=CA2242474294GEMIN4c.2513T= (p.Val838=)
c.2480T= (p.Val827=)
c.2525T= (p.Val842=)
17g.745530A>CCA397503640GEMIN4c.2513T>G (p.Val838Gly)
c.2480T>G (p.Val827Gly)
c.2525T>G (p.Val842Gly)
 dbSNP
17g.745530A>GCA397503639GEMIN4c.2513T>C (p.Val838Ala)
c.2480T>C (p.Val827Ala)
c.2525T>C (p.Val842Ala)
17g.745530A>TCA397503637GEMIN4c.2513T>A (p.Val838Glu)
c.2480T>A (p.Val827Glu)
c.2525T>A (p.Val842Glu)
17g.745531C>ACA397503642GEMIN4c.2512G>T (p.Val838Leu)
c.2479G>T (p.Val827Leu)
c.2524G>T (p.Val842Leu)
17g.745531C=CA2242474295GEMIN4c.2512G= (p.Val838=)
c.2479G= (p.Val827=)
c.2524G= (p.Val842=)
17g.745531C>GCA286713647GEMIN4c.2512G>C (p.Val838Leu)
c.2479G>C (p.Val827Leu)
c.2524G>C (p.Val842Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745531C>TCA397503645GEMIN4c.2512G>A (p.Val838Met)
c.2479G>A (p.Val827Met)
c.2524G>A (p.Val842Met)
 ClinVar
17g.745532C>ACA497384165GEMIN4c.2511G>T (p.Val837=)
c.2478G>T (p.Val826=)
c.2523G>T (p.Val841=)
17g.745532C=CA2242474296GEMIN4c.2511G= (p.Val837=)
c.2478G= (p.Val826=)
c.2523G= (p.Val841=)
17g.745532C>GCA497384167GEMIN4c.2511G>C (p.Val837=)
c.2478G>C (p.Val826=)
c.2523G>C (p.Val841=)
17g.745532C>TCA497384166GEMIN4c.2511G>A (p.Val837=)
c.2478G>A (p.Val826=)
c.2523G>A (p.Val841=)
 dbSNP gnomAD v2 gnomAD v4
17g.745533A>CCA397503647GEMIN4c.2510T>G (p.Val837Gly)
c.2477T>G (p.Val826Gly)
c.2522T>G (p.Val841Gly)
17g.745533A>GCA397503649GEMIN4c.2510T>C (p.Val837Ala)
c.2477T>C (p.Val826Ala)
c.2522T>C (p.Val841Ala)
17g.745533A>TCA397503651GEMIN4c.2510T>A (p.Val837Glu)
c.2477T>A (p.Val826Glu)
c.2522T>A (p.Val841Glu)
17g.745534C>ACA397503653GEMIN4c.2509G>T (p.Val837Leu)
c.2476G>T (p.Val826Leu)
c.2521G>T (p.Val841Leu)
17g.745534C=CA2242474297GEMIN4c.2509G= (p.Val837=)
c.2476G= (p.Val826=)
c.2521G= (p.Val841=)
17g.745534C>GCA397503654GEMIN4c.2509G>C (p.Val837Leu)
c.2476G>C (p.Val826Leu)
c.2521G>C (p.Val841Leu)
17g.745534C>TCA397503656GEMIN4c.2509G>A (p.Val837Met)
c.2476G>A (p.Val826Met)
c.2521G>A (p.Val841Met)
 dbSNP gnomAD v3 gnomAD v4
17g.745535C>ACA397503657GEMIN4c.2508G>T (p.Leu836Phe)
c.2475G>T (p.Leu825Phe)
c.2520G>T (p.Leu840Phe)
17g.745535C>GCA397503658GEMIN4c.2508G>C (p.Leu836Phe)
c.2475G>C (p.Leu825Phe)
c.2520G>C (p.Leu840Phe)
17g.745535C>TCA497384174GEMIN4c.2508G>A (p.Leu836=)
c.2475G>A (p.Leu825=)
c.2520G>A (p.Leu840=)
17g.745535_745537delinsCAACA2242474298GEMIN4c.2506_2508delinsTTG (p.Leu836=)
c.2473_2475delinsTTG (p.Leu825=)
c.2518_2520delinsTTG (p.Leu840=)
17g.745536A=CA2242474300GEMIN4c.2507T= (p.Leu836=)
c.2474T= (p.Leu825=)
c.2519T= (p.Leu840=)
17g.745536A>CCA397503662GEMIN4c.2507T>G (p.Leu836Trp)
c.2474T>G (p.Leu825Trp)
c.2519T>G (p.Leu840Trp)
17g.745536A>GCA397503664GEMIN4c.2507T>C (p.Leu836Ser)
c.2474T>C (p.Leu825Ser)
c.2519T>C (p.Leu840Ser)
 dbSNP
17g.745536A>TCA397503661GEMIN4c.2507T>A (p.Leu836Ter)
c.2474T>A (p.Leu825Ter)
c.2519T>A (p.Leu840Ter)
17g.745536_745537delCA8262405GEMIN4c.2506_2507del (p.Leu836GlyfsTer8)
c.2473_2474del (p.Leu825GlyfsTer8)
c.2518_2519del (p.Leu840GlyfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745536_745538delinsAAGCA2242474299GEMIN4c.2505_2507delinsCTT (p.Leu835=)
c.2472_2474delinsCTT (p.Leu824=)
c.2517_2519delinsCTT (p.Leu839=)
17g.745537A>CCA397503666GEMIN4c.2506T>G (p.Leu836Val)
c.2473T>G (p.Leu825Val)
c.2518T>G (p.Leu840Val)
17g.745537A>GCA497384178GEMIN4c.2506T>C (p.Leu836=)
c.2473T>C (p.Leu825=)
c.2518T>C (p.Leu840=)
17g.745537A>TCA397503668GEMIN4c.2506T>A (p.Leu836Met)
c.2473T>A (p.Leu825Met)
c.2518T>A (p.Leu840Met)
17g.745542_745543delCA624456764GEMIN4c.2505_2506del (p.Leu836GlyfsTer8)
c.2472_2473del (p.Leu825GlyfsTer8)
c.2517_2518del (p.Leu840GlyfsTer8)
 dbSNP gnomAD v2 gnomAD v4
17g.745538G>ACA497384179GEMIN4c.2505C>T (p.Leu835=)
c.2472C>T (p.Leu824=)
c.2517C>T (p.Leu839=)
 gnomAD v4 COSMIC
17g.745538G>CCA497384180GEMIN4c.2505C>G (p.Leu835=)
c.2472C>G (p.Leu824=)
c.2517C>G (p.Leu839=)
 gnomAD v4
17g.745538G>TCA497384181GEMIN4c.2505C>A (p.Leu835=)
c.2472C>A (p.Leu824=)
c.2517C>A (p.Leu839=)
 gnomAD v4
17g.745539A>CCA397503670GEMIN4c.2504T>G (p.Leu835Arg)
c.2471T>G (p.Leu824Arg)
c.2516T>G (p.Leu839Arg)
17g.745539A>GCA397503672GEMIN4c.2504T>C (p.Leu835Pro)
c.2471T>C (p.Leu824Pro)
c.2516T>C (p.Leu839Pro)
17g.745539A>TCA397503674GEMIN4c.2504T>A (p.Leu835His)
c.2471T>A (p.Leu824His)
c.2516T>A (p.Leu839His)
17g.745540G>ACA397503676GEMIN4c.2503C>T (p.Leu835Phe)
c.2470C>T (p.Leu824Phe)
c.2515C>T (p.Leu839Phe)
 gnomAD v4
17g.745540G>CCA8262406GEMIN4c.2503C>G (p.Leu835Val)
c.2470C>G (p.Leu824Val)
c.2515C>G (p.Leu839Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745540G=CA2242474301GEMIN4c.2503C= (p.Leu835=)
c.2470C= (p.Leu824=)
c.2515C= (p.Leu839=)
17g.745540G>TCA397503677GEMIN4c.2503C>A (p.Leu835Ile)
c.2470C>A (p.Leu824Ile)
c.2515C>A (p.Leu839Ile)
 dbSNP
17g.745541A>CCA497384187GEMIN4c.2502T>G (p.Ser834=)
c.2469T>G (p.Ser823=)
c.2514T>G (p.Ser838=)
17g.745541A>GCA497384189GEMIN4c.2502T>C (p.Ser834=)
c.2469T>C (p.Ser823=)
c.2514T>C (p.Ser838=)
17g.745541A>TCA497384192GEMIN4c.2502T>A (p.Ser834=)
c.2469T>A (p.Ser823=)
c.2514T>A (p.Ser838=)
17g.745542G>ACA397503679GEMIN4c.2501C>T (p.Ser834Phe)
c.2468C>T (p.Ser823Phe)
c.2513C>T (p.Ser838Phe)
17g.745542G>CCA397503681GEMIN4c.2501C>G (p.Ser834Cys)
c.2468C>G (p.Ser823Cys)
c.2513C>G (p.Ser838Cys)
17g.745542G>TCA397503682GEMIN4c.2501C>A (p.Ser834Tyr)
c.2468C>A (p.Ser823Tyr)
c.2513C>A (p.Ser838Tyr)
17g.745543A>CCA397503685GEMIN4c.2500T>G (p.Ser834Ala)
c.2467T>G (p.Ser823Ala)
c.2512T>G (p.Ser838Ala)
17g.745543A>GCA397503686GEMIN4c.2500T>C (p.Ser834Pro)
c.2467T>C (p.Ser823Pro)
c.2512T>C (p.Ser838Pro)
17g.745543A>TCA397503684GEMIN4c.2500T>A (p.Ser834Thr)
c.2467T>A (p.Ser823Thr)
c.2512T>A (p.Ser838Thr)
17g.745544C>ACA497384197GEMIN4c.2499G>T (p.Leu833=)
c.2466G>T (p.Leu822=)
c.2511G>T (p.Leu837=)
 dbSNP gnomAD v2 gnomAD v4
17g.745544C=CA2242474302GEMIN4c.2499G= (p.Leu833=)
c.2466G= (p.Leu822=)
c.2511G= (p.Leu837=)
17g.745544C>GCA497384198GEMIN4c.2499G>C (p.Leu833=)
c.2466G>C (p.Leu822=)
c.2511G>C (p.Leu837=)
 dbSNP gnomAD v2 gnomAD v4
17g.745544C>TCA497384199GEMIN4c.2499G>A (p.Leu833=)
c.2466G>A (p.Leu822=)
c.2511G>A (p.Leu837=)
17g.745545A>CCA397503687GEMIN4c.2498T>G (p.Leu833Arg)
c.2465T>G (p.Leu822Arg)
c.2510T>G (p.Leu837Arg)
17g.745545A>GCA397503688GEMIN4c.2498T>C (p.Leu833Pro)
c.2465T>C (p.Leu822Pro)
c.2510T>C (p.Leu837Pro)
17g.745545A>TCA397503689GEMIN4c.2498T>A (p.Leu833Gln)
c.2465T>A (p.Leu822Gln)
c.2510T>A (p.Leu837Gln)
17g.745546G>ACA497384204GEMIN4c.2497C>T (p.Leu833=)
c.2464C>T (p.Leu822=)
c.2509C>T (p.Leu837=)
17g.745546G>CCA397503690GEMIN4c.2497C>G (p.Leu833Val)
c.2464C>G (p.Leu822Val)
c.2509C>G (p.Leu837Val)
17g.745546G>TCA397503691GEMIN4c.2497C>A (p.Leu833Met)
c.2464C>A (p.Leu822Met)
c.2509C>A (p.Leu837Met)
17g.745547C>ACA397503694GEMIN4c.2496G>T (p.Met832Ile)
c.2463G>T (p.Met821Ile)
c.2508G>T (p.Met836Ile)
 gnomAD v4
17g.745547C>GCA397503692GEMIN4c.2496G>C (p.Met832Ile)
c.2463G>C (p.Met821Ile)
c.2508G>C (p.Met836Ile)
17g.745547C>TCA397503693GEMIN4c.2496G>A (p.Met832Ile)
c.2463G>A (p.Met821Ile)
c.2508G>A (p.Met836Ile)
17g.745548A>CCA397503695GEMIN4c.2495T>G (p.Met832Arg)
c.2462T>G (p.Met821Arg)
c.2507T>G (p.Met836Arg)
17g.745548A>GCA397503696GEMIN4c.2495T>C (p.Met832Thr)
c.2462T>C (p.Met821Thr)
c.2507T>C (p.Met836Thr)
17g.745548A>TCA397503697GEMIN4c.2495T>A (p.Met832Lys)
c.2462T>A (p.Met821Lys)
c.2507T>A (p.Met836Lys)
17g.745549T>ACA397503698GEMIN4c.2494A>T (p.Met832Leu)
c.2461A>T (p.Met821Leu)
c.2506A>T (p.Met836Leu)
 dbSNP
17g.745549T>CCA397503699GEMIN4c.2494A>G (p.Met832Val)
c.2461A>G (p.Met821Val)
c.2506A>G (p.Met836Val)
17g.745549T>GCA397503700GEMIN4c.2494A>C (p.Met832Leu)
c.2461A>C (p.Met821Leu)
c.2506A>C (p.Met836Leu)
17g.745549T=CA2242474303GEMIN4c.2494A= (p.Met832=)
c.2461A= (p.Met821=)
c.2506A= (p.Met836=)
17g.745550C>ACA397503701GEMIN4c.2493G>T (p.Arg831Ser)
c.2460G>T (p.Arg820Ser)
c.2505G>T (p.Arg835Ser)
17g.745550C>GCA397503702GEMIN4c.2493G>C (p.Arg831Ser)
c.2460G>C (p.Arg820Ser)
c.2505G>C (p.Arg835Ser)
17g.745550C>TCA497384210GEMIN4c.2493G>A (p.Arg831=)
c.2460G>A (p.Arg820=)
c.2505G>A (p.Arg835=)
17g.745551C>ACA397503703GEMIN4c.2492G>T (p.Arg831Met)
c.2459G>T (p.Arg820Met)
c.2504G>T (p.Arg835Met)
17g.745551C=CA2242474304GEMIN4c.2492G= (p.Arg831=)
c.2459G= (p.Arg820=)
c.2504G= (p.Arg835=)
17g.745551C>GCA397503705GEMIN4c.2492G>C (p.Arg831Thr)
c.2459G>C (p.Arg820Thr)
c.2504G>C (p.Arg835Thr)
17g.745551C>TCA397503704GEMIN4c.2492G>A (p.Arg831Lys)
c.2459G>A (p.Arg820Lys)
c.2504G>A (p.Arg835Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745552T>ACA397503706GEMIN4c.2491A>T (p.Arg831Trp)
c.2458A>T (p.Arg820Trp)
c.2503A>T (p.Arg835Trp)
17g.745552T>CCA397503707GEMIN4c.2491A>G (p.Arg831Gly)
c.2458A>G (p.Arg820Gly)
c.2503A>G (p.Arg835Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.745552T>GCA497384213GEMIN4c.2491A>C (p.Arg831=)
c.2458A>C (p.Arg820=)
c.2503A>C (p.Arg835=)
17g.745552T=CA2242474305GEMIN4c.2491A= (p.Arg831=)
c.2458A= (p.Arg820=)
c.2503A= (p.Arg835=)
17g.745553C>ACA397503708GEMIN4c.2490G>T (p.Glu830Asp)
c.2457G>T (p.Glu819Asp)
c.2502G>T (p.Glu834Asp)
17g.745553C=CA2242474306GEMIN4c.2490G= (p.Glu830=)
c.2457G= (p.Glu819=)
c.2502G= (p.Glu834=)
17g.745553C>GCA397503709GEMIN4c.2490G>C (p.Glu830Asp)
c.2457G>C (p.Glu819Asp)
c.2502G>C (p.Glu834Asp)
17g.745553C>TCA497384221GEMIN4c.2490G>A (p.Glu830=)
c.2457G>A (p.Glu819=)
c.2502G>A (p.Glu834=)
 dbSNP gnomAD v2 gnomAD v4
17g.745554T>ACA397503710GEMIN4c.2489A>T (p.Glu830Val)
c.2456A>T (p.Glu819Val)
c.2501A>T (p.Glu834Val)
17g.745554T>CCA397503711GEMIN4c.2489A>G (p.Glu830Gly)
c.2456A>G (p.Glu819Gly)
c.2501A>G (p.Glu834Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.745554T>GCA397503712GEMIN4c.2489A>C (p.Glu830Ala)
c.2456A>C (p.Glu819Ala)
c.2501A>C (p.Glu834Ala)
17g.745554T=CA2242474307GEMIN4c.2489A= (p.Glu830=)
c.2456A= (p.Glu819=)
c.2501A= (p.Glu834=)
17g.745555C>ACA397503713GEMIN4c.2488G>T (p.Glu830Ter)
c.2455G>T (p.Glu819Ter)
c.2500G>T (p.Glu834Ter)
17g.745555C>GCA397503714GEMIN4c.2488G>C (p.Glu830Gln)
c.2455G>C (p.Glu819Gln)
c.2500G>C (p.Glu834Gln)
17g.745555C>TCA397503715GEMIN4c.2488G>A (p.Glu830Lys)
c.2455G>A (p.Glu819Lys)
c.2500G>A (p.Glu834Lys)
 gnomAD v4
17g.745556C>ACA497384229GEMIN4c.2487G>T (p.Ser829=)
c.2454G>T (p.Ser818=)
c.2499G>T (p.Ser833=)
17g.745556C=CA2242474308GEMIN4c.2487G= (p.Ser829=)
c.2454G= (p.Ser818=)
c.2499G= (p.Ser833=)
17g.745556C>GCA497384233GEMIN4c.2487G>C (p.Ser829=)
c.2454G>C (p.Ser818=)
c.2499G>C (p.Ser833=)
17g.745556C>TCA8262407GEMIN4c.2487G>A (p.Ser829=)
c.2454G>A (p.Ser818=)
c.2499G>A (p.Ser833=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745557G>ACA397503716GEMIN4c.2486C>T (p.Ser829Leu)
c.2453C>T (p.Ser818Leu)
c.2498C>T (p.Ser833Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745557G>CCA397503717GEMIN4c.2486C>G (p.Ser829Trp)
c.2453C>G (p.Ser818Trp)
c.2498C>G (p.Ser833Trp)
17g.745557G=CA2242474309GEMIN4c.2486C= (p.Ser829=)
c.2453C= (p.Ser818=)
c.2498C= (p.Ser833=)
17g.745557G>TCA397503718GEMIN4c.2486C>A (p.Ser829Ter)
c.2453C>A (p.Ser818Ter)
c.2498C>A (p.Ser833Ter)
17g.745558A=CA2242474310GEMIN4c.2485T= (p.Ser829=)
c.2452T= (p.Ser818=)
c.2497T= (p.Ser833=)
17g.745558A>CCA286713648GEMIN4c.2485T>G (p.Ser829Ala)
c.2452T>G (p.Ser818Ala)
c.2497T>G (p.Ser833Ala)
 dbSNP
17g.745558A>GCA397503720GEMIN4c.2485T>C (p.Ser829Pro)
c.2452T>C (p.Ser818Pro)
c.2497T>C (p.Ser833Pro)
17g.745558A>TCA397503719GEMIN4c.2485T>A (p.Ser829Thr)
c.2452T>A (p.Ser818Thr)
c.2497T>A (p.Ser833Thr)
17g.745559G>ACA497384248GEMIN4c.2484C>T (p.Ile828=)
c.2451C>T (p.Ile817=)
c.2496C>T (p.Ile832=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745559G>CCA397503721GEMIN4c.2484C>G (p.Ile828Met)
c.2451C>G (p.Ile817Met)
c.2496C>G (p.Ile832Met)
17g.745559G=CA2242474311GEMIN4c.2484C= (p.Ile828=)
c.2451C= (p.Ile817=)
c.2496C= (p.Ile832=)
17g.745559G>TCA497384247GEMIN4c.2484C>A (p.Ile828=)
c.2451C>A (p.Ile817=)
c.2496C>A (p.Ile832=)
17g.745560A=CA2242474312GEMIN4c.2483T= (p.Ile828=)
c.2450T= (p.Ile817=)
c.2495T= (p.Ile832=)
17g.745560A>CCA397503722GEMIN4c.2483T>G (p.Ile828Ser)
c.2450T>G (p.Ile817Ser)
c.2495T>G (p.Ile832Ser)
17g.745560A>GCA397503723GEMIN4c.2483T>C (p.Ile828Thr)
c.2450T>C (p.Ile817Thr)
c.2495T>C (p.Ile832Thr)
17g.745560A>TCA397503724GEMIN4c.2483T>A (p.Ile828Asn)
c.2450T>A (p.Ile817Asn)
c.2495T>A (p.Ile832Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745561T>ACA397503725GEMIN4c.2482A>T (p.Ile828Phe)
c.2449A>T (p.Ile817Phe)
c.2494A>T (p.Ile832Phe)
17g.745561T>CCA397503726GEMIN4c.2482A>G (p.Ile828Val)
c.2449A>G (p.Ile817Val)
c.2494A>G (p.Ile832Val)
17g.745561T>GCA397503727GEMIN4c.2482A>C (p.Ile828Leu)
c.2449A>C (p.Ile817Leu)
c.2494A>C (p.Ile832Leu)
17g.745562G>ACA286713649GEMIN4c.2481C>T (p.Gly827=)
c.2448C>T (p.Gly816=)
c.2493C>T (p.Gly831=)
 dbSNP
17g.745562G>CCA497384254GEMIN4c.2481C>G (p.Gly827=)
c.2448C>G (p.Gly816=)
c.2493C>G (p.Gly831=)
17g.745562G=CA2242474313GEMIN4c.2481C= (p.Gly827=)
c.2448C= (p.Gly816=)
c.2493C= (p.Gly831=)
17g.745562G>TCA497384256GEMIN4c.2481C>A (p.Gly827=)
c.2448C>A (p.Gly816=)
c.2493C>A (p.Gly831=)
17g.745563C>ACA397503728GEMIN4c.2480G>T (p.Gly827Val)
c.2447G>T (p.Gly816Val)
c.2492G>T (p.Gly831Val)
17g.745563C=CA2242474314GEMIN4c.2480G= (p.Gly827=)
c.2447G= (p.Gly816=)
c.2492G= (p.Gly831=)
17g.745563C>GCA397503729GEMIN4c.2480G>C (p.Gly827Ala)
c.2447G>C (p.Gly816Ala)
c.2492G>C (p.Gly831Ala)
17g.745563C>TCA397503730GEMIN4c.2480G>A (p.Gly827Asp)
c.2447G>A (p.Gly816Asp)
c.2492G>A (p.Gly831Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.745564C>ACA397503731GEMIN4c.2479G>T (p.Gly827Cys)
c.2446G>T (p.Gly816Cys)
c.2491G>T (p.Gly831Cys)
17g.745564C=CA2242474315GEMIN4c.2479G= (p.Gly827=)
c.2446G= (p.Gly816=)
c.2491G= (p.Gly831=)
17g.745564C>GCA397503732GEMIN4c.2479G>C (p.Gly827Arg)
c.2446G>C (p.Gly816Arg)
c.2491G>C (p.Gly831Arg)
17g.745564C>TCA8262408GEMIN4c.2479G>A (p.Gly827Ser)
c.2446G>A (p.Gly816Ser)
c.2491G>A (p.Gly831Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745565G>ACA8262409GEMIN4c.2478C>T (p.Ser826=)
c.2445C>T (p.Ser815=)
c.2490C>T (p.Ser830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745565G>CCA397503733GEMIN4c.2478C>G (p.Ser826Arg)
c.2445C>G (p.Ser815Arg)
c.2490C>G (p.Ser830Arg)
17g.745565G=CA2242474316GEMIN4c.2478C= (p.Ser826=)
c.2445C= (p.Ser815=)
c.2490C= (p.Ser830=)
17g.745565G>TCA397503734GEMIN4c.2478C>A (p.Ser826Arg)
c.2445C>A (p.Ser815Arg)
c.2490C>A (p.Ser830Arg)
 dbSNP
17g.745566_745568delCA2635152685GEMIN4c.2476_2478del (p.Ser826del)
c.2443_2445del (p.Ser815del)
c.2488_2490del (p.Ser830del)
 gnomAD v4
17g.745566C>ACA8262410GEMIN4c.2477G>T (p.Ser826Ile)
c.2444G>T (p.Ser815Ile)
c.2489G>T (p.Ser830Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745566C=CA2242474317GEMIN4c.2477G= (p.Ser826=)
c.2444G= (p.Ser815=)
c.2489G= (p.Ser830=)
17g.745566C>GCA397503735GEMIN4c.2477G>C (p.Ser826Thr)
c.2444G>C (p.Ser815Thr)
c.2489G>C (p.Ser830Thr)
 gnomAD v4
17g.745566C>TCA397503736GEMIN4c.2477G>A (p.Ser826Asn)
c.2444G>A (p.Ser815Asn)
c.2489G>A (p.Ser830Asn)
 dbSNP gnomAD v4
17g.745567T>ACA397503737GEMIN4c.2476A>T (p.Ser826Cys)
c.2443A>T (p.Ser815Cys)
c.2488A>T (p.Ser830Cys)
17g.745567T>CCA8262411GEMIN4c.2476A>G (p.Ser826Gly)
c.2443A>G (p.Ser815Gly)
c.2488A>G (p.Ser830Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745567T>GCA397503738GEMIN4c.2476A>C (p.Ser826Arg)
c.2443A>C (p.Ser815Arg)
c.2488A>C (p.Ser830Arg)
17g.745567T=CA2242474318GEMIN4c.2476A= (p.Ser826=)
c.2443A= (p.Ser815=)
c.2488A= (p.Ser830=)
17g.745568G>ACA497383749GEMIN4c.2475C>T (p.Ser825=)
c.2442C>T (p.Ser814=)
c.2487C>T (p.Ser829=)
17g.745568G>CCA497383748GEMIN4c.2475C>G (p.Ser825=)
c.2442C>G (p.Ser814=)
c.2487C>G (p.Ser829=)
17g.745568G>TCA497383747GEMIN4c.2475C>A (p.Ser825=)
c.2442C>A (p.Ser814=)
c.2487C>A (p.Ser829=)
17g.745569G>ACA397503739GEMIN4c.2474C>T (p.Ser825Phe)
c.2441C>T (p.Ser814Phe)
c.2486C>T (p.Ser829Phe)
 dbSNP gnomAD v4
17g.745569G>CCA397503740GEMIN4c.2474C>G (p.Ser825Cys)
c.2441C>G (p.Ser814Cys)
c.2486C>G (p.Ser829Cys)
17g.745569G=CA2242474319GEMIN4c.2474C= (p.Ser825=)
c.2441C= (p.Ser814=)
c.2486C= (p.Ser829=)
17g.745569G>TCA8262412GEMIN4c.2474C>A (p.Ser825Tyr)
c.2441C>A (p.Ser814Tyr)
c.2486C>A (p.Ser829Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745569_745572delCA2808150944GEMIN4c.2471_2474del (p.Val824AlafsTer?)
c.2438_2441del (p.Val813AlafsTer?)
c.2483_2486del (p.Val828AlafsTer?)
17g.745570A=CA2242474320GEMIN4c.2473T= (p.Ser825=)
c.2440T= (p.Ser814=)
c.2485T= (p.Ser829=)
17g.745570A>CCA286713650GEMIN4c.2473T>G (p.Ser825Ala)
c.2440T>G (p.Ser814Ala)
c.2485T>G (p.Ser829Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.745570A>GCA397503742GEMIN4c.2473T>C (p.Ser825Pro)
c.2440T>C (p.Ser814Pro)
c.2485T>C (p.Ser829Pro)
17g.745570A>TCA397503741GEMIN4c.2473T>A (p.Ser825Thr)
c.2440T>A (p.Ser814Thr)
c.2485T>A (p.Ser829Thr)
17g.745571G>ACA497383754GEMIN4c.2472C>T (p.Val824=)
c.2439C>T (p.Val813=)
c.2484C>T (p.Val828=)
17g.745571G>CCA497383757GEMIN4c.2472C>G (p.Val824=)
c.2439C>G (p.Val813=)
c.2484C>G (p.Val828=)
17g.745571G>TCA497383756GEMIN4c.2472C>A (p.Val824=)
c.2439C>A (p.Val813=)
c.2484C>A (p.Val828=)
 gnomAD v4
17g.745572A>CCA397503743GEMIN4c.2471T>G (p.Val824Gly)
c.2438T>G (p.Val813Gly)
c.2483T>G (p.Val828Gly)
17g.745572A>GCA397503744GEMIN4c.2471T>C (p.Val824Ala)
c.2438T>C (p.Val813Ala)
c.2483T>C (p.Val828Ala)
 gnomAD v4
17g.745572A>TCA397503745GEMIN4c.2471T>A (p.Val824Asp)
c.2438T>A (p.Val813Asp)
c.2483T>A (p.Val828Asp)
17g.745573C>ACA286713651GEMIN4c.2470G>T (p.Val824Phe)
c.2437G>T (p.Val813Phe)
c.2482G>T (p.Val828Phe)
 dbSNP
17g.745573C=CA2242474321GEMIN4c.2470G= (p.Val824=)
c.2437G= (p.Val813=)
c.2482G= (p.Val828=)
17g.745573C>GCA397503746GEMIN4c.2470G>C (p.Val824Leu)
c.2437G>C (p.Val813Leu)
c.2482G>C (p.Val828Leu)
17g.745573C>TCA8262413GEMIN4c.2470G>A (p.Val824Ile)
c.2437G>A (p.Val813Ile)
c.2482G>A (p.Val828Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745574G>ACA497383764GEMIN4c.2469C>T (p.Cys823=)
c.2436C>T (p.Cys812=)
c.2481C>T (p.Cys827=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745574G>CCA397503747GEMIN4c.2469C>G (p.Cys823Trp)
c.2436C>G (p.Cys812Trp)
c.2481C>G (p.Cys827Trp)
17g.745574G=CA2242474322GEMIN4c.2469C= (p.Cys823=)
c.2436C= (p.Cys812=)
c.2481C= (p.Cys827=)
17g.745574G>TCA397503748GEMIN4c.2469C>A (p.Cys823Ter)
c.2436C>A (p.Cys812Ter)
c.2481C>A (p.Cys827Ter)
17g.745575C>ACA397503749GEMIN4c.2468G>T (p.Cys823Phe)
c.2435G>T (p.Cys812Phe)
c.2480G>T (p.Cys827Phe)
17g.745575C>GCA397503750GEMIN4c.2468G>C (p.Cys823Ser)
c.2435G>C (p.Cys812Ser)
c.2480G>C (p.Cys827Ser)
17g.745575C>TCA397503751GEMIN4c.2468G>A (p.Cys823Tyr)
c.2435G>A (p.Cys812Tyr)
c.2480G>A (p.Cys827Tyr)
17g.745575_745581delCA2808150945GEMIN4c.2462_2468del (p.Cys821SerfsTer?)
c.2429_2435del (p.Cys810SerfsTer?)
c.2474_2480del (p.Cys825SerfsTer?)
17g.745576A=CA2242474323GEMIN4c.2467T= (p.Cys823=)
c.2434T= (p.Cys812=)
c.2479T= (p.Cys827=)
17g.745576A>CCA397503752GEMIN4c.2467T>G (p.Cys823Gly)
c.2434T>G (p.Cys812Gly)
c.2479T>G (p.Cys827Gly)
 dbSNP
17g.745576A>GCA397503753GEMIN4c.2467T>C (p.Cys823Arg)
c.2434T>C (p.Cys812Arg)
c.2479T>C (p.Cys827Arg)
17g.745576A>TCA397503754GEMIN4c.2467T>A (p.Cys823Ser)
c.2434T>A (p.Cys812Ser)
c.2479T>A (p.Cys827Ser)
17g.745577G>ACA497383768GEMIN4c.2466C>T (p.Cys822=)
c.2433C>T (p.Cys811=)
c.2478C>T (p.Cys826=)
17g.745577G>CCA397503755GEMIN4c.2466C>G (p.Cys822Trp)
c.2433C>G (p.Cys811Trp)
c.2478C>G (p.Cys826Trp)
 gnomAD v4
17g.745577G>TCA397503756GEMIN4c.2466C>A (p.Cys822Ter)
c.2433C>A (p.Cys811Ter)
c.2478C>A (p.Cys826Ter)
17g.745578C>ACA397503757GEMIN4c.2465G>T (p.Cys822Phe)
c.2432G>T (p.Cys811Phe)
c.2477G>T (p.Cys826Phe)
17g.745578C>GCA397503759GEMIN4c.2465G>C (p.Cys822Ser)
c.2432G>C (p.Cys811Ser)
c.2477G>C (p.Cys826Ser)
 gnomAD v4
17g.745578C>TCA397503758GEMIN4c.2465G>A (p.Cys822Tyr)
c.2432G>A (p.Cys811Tyr)
c.2477G>A (p.Cys826Tyr)
17g.745579A=CA2242474324GEMIN4c.2464T= (p.Cys822=)
c.2431T= (p.Cys811=)
c.2476T= (p.Cys826=)
17g.745579A>CCA397503760GEMIN4c.2464T>G (p.Cys822Gly)
c.2431T>G (p.Cys811Gly)
c.2476T>G (p.Cys826Gly)
 dbSNP
17g.745579A>GCA8262414GEMIN4c.2464T>C (p.Cys822Arg)
c.2431T>C (p.Cys811Arg)
c.2476T>C (p.Cys826Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745579A>TCA397503761GEMIN4c.2464T>A (p.Cys822Ser)
c.2431T>A (p.Cys811Ser)
c.2476T>A (p.Cys826Ser)
17g.745580G>ACA497383769GEMIN4c.2463C>T (p.Cys821=)
c.2430C>T (p.Cys810=)
c.2475C>T (p.Cys825=)
 gnomAD v4
17g.745580G>CCA397503762GEMIN4c.2463C>G (p.Cys821Trp)
c.2430C>G (p.Cys810Trp)
c.2475C>G (p.Cys825Trp)
17g.745580G>TCA397503763GEMIN4c.2463C>A (p.Cys821Ter)
c.2430C>A (p.Cys810Ter)
c.2475C>A (p.Cys825Ter)
17g.745581C>ACA397503764GEMIN4c.2462G>T (p.Cys821Phe)
c.2429G>T (p.Cys810Phe)
c.2474G>T (p.Cys825Phe)
17g.745581C=CA2242474325GEMIN4c.2462G= (p.Cys821=)
c.2429G= (p.Cys810=)
c.2474G= (p.Cys825=)
17g.745581C>GCA397503765GEMIN4c.2462G>C (p.Cys821Ser)
c.2429G>C (p.Cys810Ser)
c.2474G>C (p.Cys825Ser)
17g.745581C>TCA397503766GEMIN4c.2462G>A (p.Cys821Tyr)
c.2429G>A (p.Cys810Tyr)
c.2474G>A (p.Cys825Tyr)
 dbSNP gnomAD v4
17g.745582A=CA2242474326GEMIN4c.2461T= (p.Cys821=)
c.2428T= (p.Cys810=)
c.2473T= (p.Cys825=)
17g.745582A>CCA8262415GEMIN4c.2461T>G (p.Cys821Gly)
c.2428T>G (p.Cys810Gly)
c.2473T>G (p.Cys825Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745582A>GCA397503767GEMIN4c.2461T>C (p.Cys821Arg)
c.2428T>C (p.Cys810Arg)
c.2473T>C (p.Cys825Arg)
17g.745582A>TCA397503768GEMIN4c.2461T>A (p.Cys821Ser)
c.2428T>A (p.Cys810Ser)
c.2473T>A (p.Cys825Ser)
17g.745582_745583insACCAAACA2808150946GEMIN4c.2461_2462insTTGGTT (p.Glu820_Cys821insPheGly)
c.2428_2429insTTGGTT (p.Glu809_Cys810insPheGly)
c.2473_2474insTTGGTT (p.Glu824_Cys825insPheGly)
17g.745583C>ACA397503770GEMIN4c.2460G>T (p.Glu820Asp)
c.2427G>T (p.Glu809Asp)
c.2472G>T (p.Glu824Asp)
17g.745583C>GCA397503769GEMIN4c.2460G>C (p.Glu820Asp)
c.2427G>C (p.Glu809Asp)
c.2472G>C (p.Glu824Asp)
 gnomAD v4
17g.745583C>TCA497383774GEMIN4c.2460G>A (p.Glu820=)
c.2427G>A (p.Glu809=)
c.2472G>A (p.Glu824=)
 gnomAD v4
17g.745584T>ACA397503771GEMIN4c.2459A>T (p.Glu820Val)
c.2426A>T (p.Glu809Val)
c.2471A>T (p.Glu824Val)
17g.745584T>CCA397503772GEMIN4c.2459A>G (p.Glu820Gly)
c.2426A>G (p.Glu809Gly)
c.2471A>G (p.Glu824Gly)
17g.745584T>GCA397503773GEMIN4c.2459A>C (p.Glu820Ala)
c.2426A>C (p.Glu809Ala)
c.2471A>C (p.Glu824Ala)
 gnomAD v4
17g.745585C>ACA397503774GEMIN4c.2458G>T (p.Glu820Ter)
c.2425G>T (p.Glu809Ter)
c.2470G>T (p.Glu824Ter)
17g.745585C>GCA397503775GEMIN4c.2458G>C (p.Glu820Gln)
c.2425G>C (p.Glu809Gln)
c.2470G>C (p.Glu824Gln)
17g.745585C>TCA397503776GEMIN4c.2458G>A (p.Glu820Lys)
c.2425G>A (p.Glu809Lys)
c.2470G>A (p.Glu824Lys)
17g.745586C>ACA397503777GEMIN4c.2457G>T (p.Met819Ile)
c.2424G>T (p.Met808Ile)
c.2469G>T (p.Met823Ile)
17g.745586C>GCA397503778GEMIN4c.2457G>C (p.Met819Ile)
c.2424G>C (p.Met808Ile)
c.2469G>C (p.Met823Ile)
17g.745586C>TCA397503779GEMIN4c.2457G>A (p.Met819Ile)
c.2424G>A (p.Met808Ile)
c.2469G>A (p.Met823Ile)
17g.745587A=CA2242474327GEMIN4c.2456T= (p.Met819=)
c.2423T= (p.Met808=)
c.2468T= (p.Met823=)
17g.745587A>CCA397503780GEMIN4c.2456T>G (p.Met819Arg)
c.2423T>G (p.Met808Arg)
c.2468T>G (p.Met823Arg)
17g.745587A>GCA397503781GEMIN4c.2456T>C (p.Met819Thr)
c.2423T>C (p.Met808Thr)
c.2468T>C (p.Met823Thr)
 dbSNP gnomAD v2
17g.745587A>TCA397503782GEMIN4c.2456T>A (p.Met819Lys)
c.2423T>A (p.Met808Lys)
c.2468T>A (p.Met823Lys)
17g.745588T>ACA397503784GEMIN4c.2455A>T (p.Met819Leu)
c.2422A>T (p.Met808Leu)
c.2467A>T (p.Met823Leu)
17g.745588T>CCA397503785GEMIN4c.2455A>G (p.Met819Val)
c.2422A>G (p.Met808Val)
c.2467A>G (p.Met823Val)
 dbSNP
17g.745588T>GCA397503783GEMIN4c.2455A>C (p.Met819Leu)
c.2422A>C (p.Met808Leu)
c.2467A>C (p.Met823Leu)
17g.745588T=CA2242474328GEMIN4c.2455A= (p.Met819=)
c.2422A= (p.Met808=)
c.2467A= (p.Met823=)
17g.745588dupCA286713652GEMIN4c.2455dup (p.Met819AsnfsTer26)
c.2422dup (p.Met808AsnfsTer26)
c.2467dup (p.Met823AsnfsTer26)
 dbSNP
17g.745589C>ACA397503786GEMIN4c.2454G>T (p.Trp818Cys)
c.2421G>T (p.Trp807Cys)
c.2466G>T (p.Trp822Cys)
17g.745589C=CA2242474329GEMIN4c.2454G= (p.Trp818=)
c.2421G= (p.Trp807=)
c.2466G= (p.Trp822=)
17g.745589C>GCA286713653GEMIN4c.2454G>C (p.Trp818Cys)
c.2421G>C (p.Trp807Cys)
c.2466G>C (p.Trp822Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745589C>TCA397503787GEMIN4c.2454G>A (p.Trp818Ter)
c.2421G>A (p.Trp807Ter)
c.2466G>A (p.Trp822Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.745590C>ACA397503788GEMIN4c.2453G>T (p.Trp818Leu)
c.2420G>T (p.Trp807Leu)
c.2465G>T (p.Trp822Leu)
17g.745590C=CA2242474330GEMIN4c.2453G= (p.Trp818=)
c.2420G= (p.Trp807=)
c.2465G= (p.Trp822=)
17g.745590C>GCA397503789GEMIN4c.2453G>C (p.Trp818Ser)
c.2420G>C (p.Trp807Ser)
c.2465G>C (p.Trp822Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.745590C>TCA397503790GEMIN4c.2453G>A (p.Trp818Ter)
c.2420G>A (p.Trp807Ter)
c.2465G>A (p.Trp822Ter)
17g.745591A=CA2242474331GEMIN4c.2452T= (p.Trp818=)
c.2419T= (p.Trp807=)
c.2464T= (p.Trp822=)
17g.745591A>CCA397503791GEMIN4c.2452T>G (p.Trp818Gly)
c.2419T>G (p.Trp807Gly)
c.2464T>G (p.Trp822Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.745591A>GCA249933GEMIN4c.2452T>C (p.Trp818Arg)
c.2419T>C (p.Trp807Arg)
c.2464T>C (p.Trp822Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.745591A>TCA397503792GEMIN4c.2452T>A (p.Trp818Arg)
c.2419T>A (p.Trp807Arg)
c.2464T>A (p.Trp822Arg)
17g.745592G>ACA497383788GEMIN4c.2451C>T (p.Ala817=)
c.2418C>T (p.Ala806=)
c.2463C>T (p.Ala821=)
17g.745592G>CCA497383789GEMIN4c.2451C>G (p.Ala817=)
c.2418C>G (p.Ala806=)
c.2463C>G (p.Ala821=)
17g.745592G>TCA497383790GEMIN4c.2451C>A (p.Ala817=)
c.2418C>A (p.Ala806=)
c.2463C>A (p.Ala821=)
17g.745593G>ACA397503793GEMIN4c.2450C>T (p.Ala817Val)
c.2417C>T (p.Ala806Val)
c.2462C>T (p.Ala821Val)
17g.745593G>CCA397503794GEMIN4c.2450C>G (p.Ala817Gly)
c.2417C>G (p.Ala806Gly)
c.2462C>G (p.Ala821Gly)
 dbSNP gnomAD v2
17g.745593G=CA2242474332GEMIN4c.2450C= (p.Ala817=)
c.2417C= (p.Ala806=)
c.2462C= (p.Ala821=)
17g.745593G>TCA397503795GEMIN4c.2450C>A (p.Ala817Asp)
c.2417C>A (p.Ala806Asp)
c.2462C>A (p.Ala821Asp)
17g.745594C>ACA397503797GEMIN4c.2449G>T (p.Ala817Ser)
c.2416G>T (p.Ala806Ser)
c.2461G>T (p.Ala821Ser)
17g.745594C>GCA397503798GEMIN4c.2449G>C (p.Ala817Pro)
c.2416G>C (p.Ala806Pro)
c.2461G>C (p.Ala821Pro)
17g.745594C>TCA397503796GEMIN4c.2449G>A (p.Ala817Thr)
c.2416G>A (p.Ala806Thr)
c.2461G>A (p.Ala821Thr)
17g.745595C>ACA497383795GEMIN4c.2448G>T (p.Leu816=)
c.2415G>T (p.Leu805=)
c.2460G>T (p.Leu820=)
17g.745595C>GCA497383796GEMIN4c.2448G>C (p.Leu816=)
c.2415G>C (p.Leu805=)
c.2460G>C (p.Leu820=)
17g.745595C>TCA497383797GEMIN4c.2448G>A (p.Leu816=)
c.2415G>A (p.Leu805=)
c.2460G>A (p.Leu820=)
17g.745596A=CA2242474333GEMIN4c.2447T= (p.Leu816=)
c.2414T= (p.Leu805=)
c.2459T= (p.Leu820=)
17g.745596A>CCA397503799GEMIN4c.2447T>G (p.Leu816Arg)
c.2414T>G (p.Leu805Arg)
c.2459T>G (p.Leu820Arg)
17g.745596A>GCA8262416GEMIN4c.2447T>C (p.Leu816Pro)
c.2414T>C (p.Leu805Pro)
c.2459T>C (p.Leu820Pro)
 dbSNP ExAC
17g.745596A>TCA397503800GEMIN4c.2447T>A (p.Leu816Gln)
c.2414T>A (p.Leu805Gln)
c.2459T>A (p.Leu820Gln)
17g.745597G>ACA497383801GEMIN4c.2446C>T (p.Leu816=)
c.2413C>T (p.Leu805=)
c.2458C>T (p.Leu820=)
17g.745597G>CCA397503801GEMIN4c.2446C>G (p.Leu816Val)
c.2413C>G (p.Leu805Val)
c.2458C>G (p.Leu820Val)
17g.745597G>TCA397503802GEMIN4c.2446C>A (p.Leu816Met)
c.2413C>A (p.Leu805Met)
c.2458C>A (p.Leu820Met)
17g.745598G>ACA8262417GEMIN4c.2445C>T (p.Leu815=)
c.2412C>T (p.Leu804=)
c.2457C>T (p.Leu819=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745598G>CCA497383805GEMIN4c.2445C>G (p.Leu815=)
c.2412C>G (p.Leu804=)
c.2457C>G (p.Leu819=)
 dbSNP gnomAD v3 gnomAD v4
17g.745598G=CA2242474334GEMIN4c.2445C= (p.Leu815=)
c.2412C= (p.Leu804=)
c.2457C= (p.Leu819=)
17g.745598G>TCA497383806GEMIN4c.2445C>A (p.Leu815=)
c.2412C>A (p.Leu804=)
c.2457C>A (p.Leu819=)
17g.745598_745608dupCA2635152737GEMIN4c.2435_2445dup (p.Leu816AlafsTer?)
c.2402_2412dup (p.Leu805AlafsTer?)
c.2447_2457dup (p.Leu820AlafsTer?)
 gnomAD v4
17g.745599A>CCA397503805GEMIN4c.2444T>G (p.Leu815Arg)
c.2411T>G (p.Leu804Arg)
c.2456T>G (p.Leu819Arg)
17g.745599A>GCA397503803GEMIN4c.2444T>C (p.Leu815Pro)
c.2411T>C (p.Leu804Pro)
c.2456T>C (p.Leu819Pro)
 gnomAD v4
17g.745599A>TCA397503804GEMIN4c.2444T>A (p.Leu815His)
c.2411T>A (p.Leu804His)
c.2456T>A (p.Leu819His)
17g.745600G>ACA397503806GEMIN4c.2443C>T (p.Leu815Phe)
c.2410C>T (p.Leu804Phe)
c.2455C>T (p.Leu819Phe)
17g.745600G>CCA397503807GEMIN4c.2443C>G (p.Leu815Val)
c.2410C>G (p.Leu804Val)
c.2455C>G (p.Leu819Val)
17g.745600G>TCA397503808GEMIN4c.2443C>A (p.Leu815Ile)
c.2410C>A (p.Leu804Ile)
c.2455C>A (p.Leu819Ile)
17g.745601C>ACA497383811GEMIN4c.2442G>T (p.Gly814=)
c.2409G>T (p.Gly803=)
c.2454G>T (p.Gly818=)
17g.745601C>GCA497383812GEMIN4c.2442G>C (p.Gly814=)
c.2409G>C (p.Gly803=)
c.2454G>C (p.Gly818=)
17g.745601C>TCA497383813GEMIN4c.2442G>A (p.Gly814=)
c.2409G>A (p.Gly803=)
c.2454G>A (p.Gly818=)
 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

Number of alleles fetched