Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.101243520T>CCA2518918IMPG2c.2802+9A>G (n.2802+9A>G)
c.2508+9A>G (n.2508+9A>G)
c.2391+9A>G (n.2391+9A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.101243520T=CA1388615815IMPG2c.2802+9A= (n.2802+9A=)
c.2508+9A= (n.2508+9A=)
c.2391+9A= (n.2391+9A=)
3g.101243521A=CA1388615816IMPG2c.2802+8T= (n.2802+8T=)
c.2508+8T= (n.2508+8T=)
c.2391+8T= (n.2391+8T=)
3g.101243521A>GCA10614363IMPG2c.2802+8T>C (n.2802+8T>C)
c.2508+8T>C (n.2508+8T>C)
c.2391+8T>C (n.2391+8T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.101243522T>CCA79721982IMPG2c.2802+7A>G (n.2802+7A>G)
c.2508+7A>G (n.2508+7A>G)
c.2391+7A>G (n.2391+7A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.101243522T=CA1388615817IMPG2c.2802+7A= (n.2802+7A=)
c.2508+7A= (n.2508+7A=)
c.2391+7A= (n.2391+7A=)
3g.101243522_101243523delCA2534322502IMPG2c.2802+6_2802+7del (n.2802+6_2802+7del)
c.2508+6_2508+7del (n.2508+6_2508+7del)
c.2391+6_2391+7del (n.2391+6_2391+7del)
3g.101243523G>CCA2666780719IMPG2c.2802+6C>G (n.2802+6C>G)
c.2508+6C>G (n.2508+6C>G)
c.2391+6C>G (n.2391+6C>G)
gnomAD v4
3g.101243525T>CCA896166167IMPG2c.2802+4A>G (n.2802+4A>G)
c.2508+4A>G (n.2508+4A>G)
c.2391+4A>G (n.2391+4A>G)
ClinVar dbSNP gnomAD v4
3g.101243525T=CA1388615818IMPG2c.2802+4A= (n.2802+4A=)
c.2508+4A= (n.2508+4A=)
c.2391+4A= (n.2391+4A=)
3g.101243526delCA2577839094IMPG2c.2802+4del (n.2802+4del)
c.2508+4del (n.2508+4del)
c.2391+4del (n.2391+4del)
3g.101243526T>CCA545494268IMPG2c.2802+3A>G (n.2802+3A>G)
c.2508+3A>G (n.2508+3A>G)
c.2391+3A>G (n.2391+3A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.101243526T=CA1388615819IMPG2c.2802+3A= (n.2802+3A=)
c.2508+3A= (n.2508+3A=)
c.2391+3A= (n.2391+3A=)
3g.101243527A>CCA353855251IMPG2c.2802+2T>G (n.2802+2T>G)
c.2508+2T>G (n.2508+2T>G)
c.2391+2T>G (n.2391+2T>G)
3g.101243527A>GCA353855245IMPG2c.2802+2T>C (n.2802+2T>C)
c.2508+2T>C (n.2508+2T>C)
c.2391+2T>C (n.2391+2T>C)
3g.101243527A>TCA353855248IMPG2c.2802+2T>A (n.2802+2T>A)
c.2508+2T>A (n.2508+2T>A)
c.2391+2T>A (n.2391+2T>A)
gnomAD v4
3g.101243528C>ACA353855252IMPG2c.2802+1G>T (n.2802+1G>T)
c.2508+1G>T (n.2508+1G>T)
c.2391+1G>T (n.2391+1G>T)
3g.101243528C>GCA353855253IMPG2c.2802+1G>C (n.2802+1G>C)
c.2508+1G>C (n.2508+1G>C)
c.2391+1G>C (n.2391+1G>C)
3g.101243528C>TCA353855254IMPG2c.2802+1G>A (n.2802+1G>A)
c.2508+1G>A (n.2508+1G>A)
c.2391+1G>A (n.2391+1G>A)
3g.101243529C>ACA353855255IMPG2c.2802G>T (p.Leu934Phe)
c.2508G>T (p.Leu836Phe)
c.2391G>T (p.Leu797Phe)
3g.101243529C>GCA353855257IMPG2c.2802G>C (p.Leu934Phe)
c.2508G>C (p.Leu836Phe)
c.2391G>C (p.Leu797Phe)
3g.101243529C>TCA434869562IMPG2c.2802G>A (p.Leu934=)
c.2508G>A (p.Leu836=)
c.2391G>A (p.Leu797=)
3g.101243530A>CCA353855263IMPG2c.2801T>G (p.Leu934Trp)
c.2507T>G (p.Leu836Trp)
c.2390T>G (p.Leu797Trp)
3g.101243530A>GCA353855266IMPG2c.2801T>C (p.Leu934Ser)
c.2507T>C (p.Leu836Ser)
c.2390T>C (p.Leu797Ser)
3g.101243530A>TCA353855269IMPG2c.2801T>A (p.Leu934Ter)
c.2507T>A (p.Leu836Ter)
c.2390T>A (p.Leu797Ter)
3g.101243531A=CA1388615820IMPG2c.2800T= (p.Leu934=)
c.2506T= (p.Leu836=)
c.2389T= (p.Leu797=)
3g.101243531A>CCA353855272IMPG2c.2800T>G (p.Leu934Val)
c.2506T>G (p.Leu836Val)
c.2389T>G (p.Leu797Val)
3g.101243531A>GCA2518919IMPG2c.2800T>C (p.Leu934=)
c.2506T>C (p.Leu836=)
c.2389T>C (p.Leu797=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.101243531A>TCA353855282IMPG2c.2800T>A (p.Leu934Met)
c.2506T>A (p.Leu836Met)
c.2389T>A (p.Leu797Met)
3g.101243532T>ACA353855288IMPG2c.2799A>T (p.Glu933Asp)
c.2505A>T (p.Glu835Asp)
c.2388A>T (p.Glu796Asp)
3g.101243532T>CCA434869563IMPG2c.2799A>G (p.Glu933=)
c.2505A>G (p.Glu835=)
c.2388A>G (p.Glu796=)
3g.101243532T>GCA353855285IMPG2c.2799A>C (p.Glu933Asp)
c.2505A>C (p.Glu835Asp)
c.2388A>C (p.Glu796Asp)
dbSNP
3g.101243532T=CA1388615821IMPG2c.2799A= (p.Glu933=)
c.2505A= (p.Glu835=)
c.2388A= (p.Glu796=)
3g.101243533T>ACA353855290IMPG2c.2798A>T (p.Glu933Val)
c.2504A>T (p.Glu835Val)
c.2387A>T (p.Glu796Val)
3g.101243533T>CCA353855292IMPG2c.2798A>G (p.Glu933Gly)
c.2504A>G (p.Glu835Gly)
c.2387A>G (p.Glu796Gly)
3g.101243533T>GCA353855293IMPG2c.2798A>C (p.Glu933Ala)
c.2504A>C (p.Glu835Ala)
c.2387A>C (p.Glu796Ala)
3g.101243534C>ACA353855294IMPG2c.2797G>T (p.Glu933Ter)
c.2503G>T (p.Glu835Ter)
c.2386G>T (p.Glu796Ter)
COSMIC
3g.101243534C>GCA353855295IMPG2c.2797G>C (p.Glu933Gln)
c.2503G>C (p.Glu835Gln)
c.2386G>C (p.Glu796Gln)
3g.101243534C>TCA353855296IMPG2c.2797G>A (p.Glu933Lys)
c.2503G>A (p.Glu835Lys)
c.2386G>A (p.Glu796Lys)
3g.101243535T>ACA353855298IMPG2c.2796A>T (p.Leu932Phe)
c.2502A>T (p.Leu834Phe)
c.2385A>T (p.Leu795Phe)
3g.101243535T>CCA434869564IMPG2c.2796A>G (p.Leu932=)
c.2502A>G (p.Leu834=)
c.2385A>G (p.Leu795=)
3g.101243535T>GCA353855300IMPG2c.2796A>C (p.Leu932Phe)
c.2502A>C (p.Leu834Phe)
c.2385A>C (p.Leu795Phe)
3g.101243536A>CCA353855301IMPG2c.2795T>G (p.Leu932Ter)
c.2501T>G (p.Leu834Ter)
c.2384T>G (p.Leu795Ter)
3g.101243536A>GCA353855302IMPG2c.2795T>C (p.Leu932Ser)
c.2501T>C (p.Leu834Ser)
c.2384T>C (p.Leu795Ser)
3g.101243536A>TCA353855303IMPG2c.2795T>A (p.Leu932Ter)
c.2501T>A (p.Leu834Ter)
c.2384T>A (p.Leu795Ter)
3g.101243537A>CCA353855305IMPG2c.2794T>G (p.Leu932Val)
c.2500T>G (p.Leu834Val)
c.2383T>G (p.Leu795Val)
3g.101243537A>GCA434869565IMPG2c.2794T>C (p.Leu932=)
c.2500T>C (p.Leu834=)
c.2383T>C (p.Leu795=)
3g.101243537A>TCA353855307IMPG2c.2794T>A (p.Leu932Ile)
c.2500T>A (p.Leu834Ile)
c.2383T>A (p.Leu795Ile)
3g.101243538G>ACA434869566IMPG2c.2793C>T (p.Phe931=)
c.2499C>T (p.Phe833=)
c.2382C>T (p.Phe794=)
3g.101243538G>CCA353855308IMPG2c.2793C>G (p.Phe931Leu)
c.2499C>G (p.Phe833Leu)
c.2382C>G (p.Phe794Leu)
COSMIC
3g.101243538G>TCA353855309IMPG2c.2793C>A (p.Phe931Leu)
c.2499C>A (p.Phe833Leu)
c.2382C>A (p.Phe794Leu)
3g.101243539A>CCA353855310IMPG2c.2792T>G (p.Phe931Cys)
c.2498T>G (p.Phe833Cys)
c.2381T>G (p.Phe794Cys)
3g.101243539A>GCA353855312IMPG2c.2792T>C (p.Phe931Ser)
c.2498T>C (p.Phe833Ser)
c.2381T>C (p.Phe794Ser)
3g.101243539A>TCA353855317IMPG2c.2792T>A (p.Phe931Tyr)
c.2498T>A (p.Phe833Tyr)
c.2381T>A (p.Phe794Tyr)
3g.101243540A=CA1388615822IMPG2c.2791T= (p.Phe931=)
c.2497T= (p.Phe833=)
c.2380T= (p.Phe794=)
3g.101243540A>CCA353855319IMPG2c.2791T>G (p.Phe931Val)
c.2497T>G (p.Phe833Val)
c.2380T>G (p.Phe794Val)
3g.101243540A>GCA2518920IMPG2c.2791T>C (p.Phe931Leu)
c.2497T>C (p.Phe833Leu)
c.2380T>C (p.Phe794Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.101243540A>TCA353855320IMPG2c.2791T>A (p.Phe931Ile)
c.2497T>A (p.Phe833Ile)
c.2380T>A (p.Phe794Ile)
3g.101243541T>ACA353855322IMPG2c.2790A>T (p.Arg930Ser)
c.2496A>T (p.Arg832Ser)
c.2379A>T (p.Arg793Ser)
3g.101243541T>CCA434869567IMPG2c.2790A>G (p.Arg930=)
c.2496A>G (p.Arg832=)
c.2379A>G (p.Arg793=)
3g.101243541T>GCA353855323IMPG2c.2790A>C (p.Arg930Ser)
c.2496A>C (p.Arg832Ser)
c.2379A>C (p.Arg793Ser)
3g.101243542C>ACA353855326IMPG2c.2789G>T (p.Arg930Ile)
c.2495G>T (p.Arg832Ile)
c.2378G>T (p.Arg793Ile)
3g.101243542C>GCA353855328IMPG2c.2789G>C (p.Arg930Thr)
c.2495G>C (p.Arg832Thr)
c.2378G>C (p.Arg793Thr)
3g.101243542C>TCA353855329IMPG2c.2789G>A (p.Arg930Lys)
c.2495G>A (p.Arg832Lys)
c.2378G>A (p.Arg793Lys)
3g.101243543T>ACA353855332IMPG2c.2788A>T (p.Arg930Ter)
c.2494A>T (p.Arg832Ter)
c.2377A>T (p.Arg793Ter)
3g.101243543T>CCA353855334IMPG2c.2788A>G (p.Arg930Gly)
c.2494A>G (p.Arg832Gly)
c.2377A>G (p.Arg793Gly)
3g.101243543T>GCA434869568IMPG2c.2788A>C (p.Arg930=)
c.2494A>C (p.Arg832=)
c.2377A>C (p.Arg793=)
3g.101243544T>ACA353855338IMPG2c.2787A>T (p.Gln929His)
c.2493A>T (p.Gln831His)
c.2376A>T (p.Gln792His)
3g.101243544T>CCA434869569IMPG2c.2787A>G (p.Gln929=)
c.2493A>G (p.Gln831=)
c.2376A>G (p.Gln792=)
3g.101243544T>GCA353855336IMPG2c.2787A>C (p.Gln929His)
c.2493A>C (p.Gln831His)
c.2376A>C (p.Gln792His)
3g.101243545T>ACA353855340IMPG2c.2786A>T (p.Gln929Leu)
c.2492A>T (p.Gln831Leu)
c.2375A>T (p.Gln792Leu)
dbSNP
3g.101243545T>CCA353855342IMPG2c.2786A>G (p.Gln929Arg)
c.2492A>G (p.Gln831Arg)
c.2375A>G (p.Gln792Arg)
3g.101243545T>GCA353855344IMPG2c.2786A>C (p.Gln929Pro)
c.2492A>C (p.Gln831Pro)
c.2375A>C (p.Gln792Pro)
3g.101243545T=CA1388615823IMPG2c.2786A= (p.Gln929=)
c.2492A= (p.Gln831=)
c.2375A= (p.Gln792=)
3g.101243546G>ACA353855346IMPG2c.2785C>T (p.Gln929Ter)
c.2491C>T (p.Gln831Ter)
c.2374C>T (p.Gln792Ter)
3g.101243546G>CCA353855348IMPG2c.2785C>G (p.Gln929Glu)
c.2491C>G (p.Gln831Glu)
c.2374C>G (p.Gln792Glu)
3g.101243546G=CA1388615824IMPG2c.2785C= (p.Gln929=)
c.2491C= (p.Gln831=)
c.2374C= (p.Gln792=)
3g.101243546G>TCA2518921IMPG2c.2785C>A (p.Gln929Lys)
c.2491C>A (p.Gln831Lys)
c.2374C>A (p.Gln792Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.101243547C>ACA353855351IMPG2c.2784G>T (p.Glu928Asp)
c.2490G>T (p.Glu830Asp)
c.2373G>T (p.Glu791Asp)
3g.101243547C>GCA353855353IMPG2c.2784G>C (p.Glu928Asp)
c.2490G>C (p.Glu830Asp)
c.2373G>C (p.Glu791Asp)
3g.101243547C>TCA434869570IMPG2c.2784G>A (p.Glu928=)
c.2490G>A (p.Glu830=)
c.2373G>A (p.Glu791=)
gnomAD v4
3g.101243548T>ACA353855355IMPG2c.2783A>T (p.Glu928Val)
c.2489A>T (p.Glu830Val)
c.2372A>T (p.Glu791Val)
3g.101243548T>CCA353855357IMPG2c.2783A>G (p.Glu928Gly)
c.2489A>G (p.Glu830Gly)
c.2372A>G (p.Glu791Gly)
3g.101243548T>GCA353855359IMPG2c.2783A>C (p.Glu928Ala)
c.2489A>C (p.Glu830Ala)
c.2372A>C (p.Glu791Ala)
3g.101243549C>ACA353855361IMPG2c.2782G>T (p.Glu928Ter)
c.2488G>T (p.Glu830Ter)
c.2371G>T (p.Glu791Ter)
3g.101243549C=CA1388615825IMPG2c.2782G= (p.Glu928=)
c.2488G= (p.Glu830=)
c.2371G= (p.Glu791=)
3g.101243549C>GCA353855362IMPG2c.2782G>C (p.Glu928Gln)
c.2488G>C (p.Glu830Gln)
c.2371G>C (p.Glu791Gln)
dbSNP gnomAD v3 gnomAD v4
3g.101243549C>TCA353855363IMPG2c.2782G>A (p.Glu928Lys)
c.2488G>A (p.Glu830Lys)
c.2371G>A (p.Glu791Lys)
gnomAD v4
3g.101243550C>ACA434869571IMPG2c.2781G>T (p.Leu927=)
c.2487G>T (p.Leu829=)
c.2370G>T (p.Leu790=)
3g.101243550C=CA1388615826IMPG2c.2781G= (p.Leu927=)
c.2487G= (p.Leu829=)
c.2370G= (p.Leu790=)
3g.101243550C>GCA434869573IMPG2c.2781G>C (p.Leu927=)
c.2487G>C (p.Leu829=)
c.2370G>C (p.Leu790=)
3g.101243550C>TCA434869572IMPG2c.2781G>A (p.Leu927=)
c.2487G>A (p.Leu829=)
c.2370G>A (p.Leu790=)
dbSNP
3g.101243551A>CCA353855365IMPG2c.2780T>G (p.Leu927Arg)
c.2486T>G (p.Leu829Arg)
c.2369T>G (p.Leu790Arg)
3g.101243551A>GCA353855367IMPG2c.2780T>C (p.Leu927Pro)
c.2486T>C (p.Leu829Pro)
c.2369T>C (p.Leu790Pro)
3g.101243551A>TCA353855364IMPG2c.2780T>A (p.Leu927Gln)
c.2486T>A (p.Leu829Gln)
c.2369T>A (p.Leu790Gln)
3g.101243552G>ACA434869574IMPG2c.2779C>T (p.Leu927=)
c.2485C>T (p.Leu829=)
c.2368C>T (p.Leu790=)
COSMIC
3g.101243552G>CCA353855371IMPG2c.2779C>G (p.Leu927Val)
c.2485C>G (p.Leu829Val)
c.2368C>G (p.Leu790Val)
3g.101243552G>TCA353855369IMPG2c.2779C>A (p.Leu927Met)
c.2485C>A (p.Leu829Met)
c.2368C>A (p.Leu790Met)
3g.101243552_101243553insCCTACGATGTTAATCCTGATGCGCCTCA2521624715IMPG2c.2778_2779insAGGCGCATCAGGATTAACATCGTAGG (p.Leu927ArgfsTer15)
c.2484_2485insAGGCGCATCAGGATTAACATCGTAGG (p.Leu829ArgfsTer15)
c.2367_2368insAGGCGCATCAGGATTAACATCGTAGG (p.Leu790ArgfsTer15)
3g.101243553G>ACA434869575IMPG2c.2778C>T (p.Ala926=)
c.2484C>T (p.Ala828=)
c.2367C>T (p.Ala789=)
3g.101243553G>CCA434869576IMPG2c.2778C>G (p.Ala926=)
c.2484C>G (p.Ala828=)
c.2367C>G (p.Ala789=)
3g.101243553G>TCA434869577IMPG2c.2778C>A (p.Ala926=)
c.2484C>A (p.Ala828=)
c.2367C>A (p.Ala789=)
gnomAD v4
3g.101243554G>ACA353855377IMPG2c.2777C>T (p.Ala926Val)
c.2483C>T (p.Ala828Val)
c.2366C>T (p.Ala789Val)
gnomAD v4
3g.101243554G>CCA353855374IMPG2c.2777C>G (p.Ala926Gly)
c.2483C>G (p.Ala828Gly)
c.2366C>G (p.Ala789Gly)
3g.101243554G>TCA353855375IMPG2c.2777C>A (p.Ala926Asp)
c.2483C>A (p.Ala828Asp)
c.2366C>A (p.Ala789Asp)
3g.101243554_101243555insGGTTATCCTAAAAAGTGAACTTGGGATTGAGGATAAACAGCGTTCTTCAATACGTGAATGTGTTGCAAAGATAAAGGAATTGCTTACTGATGCCGCCA2551796046IMPG2c.2776_2777insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala926GlyfsTer17)
c.2482_2483insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala828GlyfsTer17)
c.2365_2366insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala789GlyfsTer17)
3g.101243555C>ACA353855380IMPG2c.2776G>T (p.Ala926Ser)
c.2482G>T (p.Ala828Ser)
c.2365G>T (p.Ala789Ser)
3g.101243555C>GCA353855382IMPG2c.2776G>C (p.Ala926Pro)
c.2482G>C (p.Ala828Pro)
c.2365G>C (p.Ala789Pro)
3g.101243555C>TCA353855384IMPG2c.2776G>A (p.Ala926Thr)
c.2482G>A (p.Ala828Thr)
c.2365G>A (p.Ala789Thr)
3g.101243556T>ACA353855386IMPG2c.2775A>T (p.Lys925Asn)
c.2481A>T (p.Lys827Asn)
c.2364A>T (p.Lys788Asn)
3g.101243556T>CCA434869578IMPG2c.2775A>G (p.Lys925=)
c.2481A>G (p.Lys827=)
c.2364A>G (p.Lys788=)
3g.101243556T>GCA353855388IMPG2c.2775A>C (p.Lys925Asn)
c.2481A>C (p.Lys827Asn)
c.2364A>C (p.Lys788Asn)
3g.101243557T>ACA353855391IMPG2c.2774A>T (p.Lys925Ile)
c.2480A>T (p.Lys827Ile)
c.2363A>T (p.Lys788Ile)
3g.101243557T>CCA353855393IMPG2c.2774A>G (p.Lys925Arg)
c.2480A>G (p.Lys827Arg)
c.2363A>G (p.Lys788Arg)
3g.101243557T>GCA353855395IMPG2c.2774A>C (p.Lys925Thr)
c.2480A>C (p.Lys827Thr)
c.2363A>C (p.Lys788Thr)
3g.101243558T>ACA353855397IMPG2c.2773A>T (p.Lys925Ter)
c.2479A>T (p.Lys827Ter)
c.2362A>T (p.Lys788Ter)
3g.101243558T>CCA353855398IMPG2c.2773A>G (p.Lys925Glu)
c.2479A>G (p.Lys827Glu)
c.2362A>G (p.Lys788Glu)
gnomAD v4
3g.101243558T>GCA353855400IMPG2c.2773A>C (p.Lys925Gln)
c.2479A>C (p.Lys827Gln)
c.2362A>C (p.Lys788Gln)
3g.101243559A=CA1388615827IMPG2c.2772T= (p.Tyr924=)
c.2478T= (p.Tyr826=)
c.2361T= (p.Tyr787=)
3g.101243559A>CCA353855422IMPG2c.2772T>G (p.Tyr924Ter)
c.2478T>G (p.Tyr826Ter)
c.2361T>G (p.Tyr787Ter)
3g.101243559A>GCA434869579IMPG2c.2772T>C (p.Tyr924=)
c.2478T>C (p.Tyr826=)
c.2361T>C (p.Tyr787=)
dbSNP gnomAD v4
3g.101243559A>TCA353855402IMPG2c.2772T>A (p.Tyr924Ter)
c.2478T>A (p.Tyr826Ter)
c.2361T>A (p.Tyr787Ter)
3g.101243560T>ACA353855424IMPG2c.2771A>T (p.Tyr924Phe)
c.2477A>T (p.Tyr826Phe)
c.2360A>T (p.Tyr787Phe)
3g.101243560T>CCA353855425IMPG2c.2771A>G (p.Tyr924Cys)
c.2477A>G (p.Tyr826Cys)
c.2360A>G (p.Tyr787Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.101243560T>GCA353855426IMPG2c.2771A>C (p.Tyr924Ser)
c.2477A>C (p.Tyr826Ser)
c.2360A>C (p.Tyr787Ser)
3g.101243560T=CA1388615828IMPG2c.2771A= (p.Tyr924=)
c.2477A= (p.Tyr826=)
c.2360A= (p.Tyr787=)
3g.101243561A>CCA353855427IMPG2c.2770T>G (p.Tyr924Asp)
c.2476T>G (p.Tyr826Asp)
c.2359T>G (p.Tyr787Asp)
3g.101243561A>GCA353855428IMPG2c.2770T>C (p.Tyr924His)
c.2476T>C (p.Tyr826His)
c.2359T>C (p.Tyr787His)
3g.101243561A>TCA353855429IMPG2c.2770T>A (p.Tyr924Asn)
c.2476T>A (p.Tyr826Asn)
c.2359T>A (p.Tyr787Asn)
3g.101243562C>ACA353855431IMPG2c.2769G>T (p.Glu923Asp)
c.2475G>T (p.Glu825Asp)
c.2358G>T (p.Glu786Asp)
3g.101243562C=CA1388615829IMPG2c.2769G= (p.Glu923=)
c.2475G= (p.Glu825=)
c.2358G= (p.Glu786=)
3g.101243562C>GCA353855433IMPG2c.2769G>C (p.Glu923Asp)
c.2475G>C (p.Glu825Asp)
c.2358G>C (p.Glu786Asp)
gnomAD v4
3g.101243562C>TCA434869580IMPG2c.2769G>A (p.Glu923=)
c.2475G>A (p.Glu825=)
c.2358G>A (p.Glu786=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.101243563T>ACA353855435IMPG2c.2768A>T (p.Glu923Val)
c.2474A>T (p.Glu825Val)
c.2357A>T (p.Glu786Val)
3g.101243563T>CCA353855437IMPG2c.2768A>G (p.Glu923Gly)
c.2474A>G (p.Glu825Gly)
c.2357A>G (p.Glu786Gly)
3g.101243563T>GCA353855439IMPG2c.2768A>C (p.Glu923Ala)
c.2474A>C (p.Glu825Ala)
c.2357A>C (p.Glu786Ala)
dbSNP gnomAD v3 gnomAD v4
3g.101243563T=CA1388615830IMPG2c.2768A= (p.Glu923=)
c.2474A= (p.Glu825=)
c.2357A= (p.Glu786=)
3g.101243564C>ACA353855442IMPG2c.2767G>T (p.Glu923Ter)
c.2473G>T (p.Glu825Ter)
c.2356G>T (p.Glu786Ter)
3g.101243564C>GCA353855448IMPG2c.2767G>C (p.Glu923Gln)
c.2473G>C (p.Glu825Gln)
c.2356G>C (p.Glu786Gln)
3g.101243564C>TCA353855450IMPG2c.2767G>A (p.Glu923Lys)
c.2473G>A (p.Glu825Lys)
c.2356G>A (p.Glu786Lys)
3g.101243565C>ACA353855466IMPG2c.2766G>T (p.Leu922Phe)
c.2472G>T (p.Leu824Phe)
c.2355G>T (p.Leu785Phe)
3g.101243565C>GCA353855468IMPG2c.2766G>C (p.Leu922Phe)
c.2472G>C (p.Leu824Phe)
c.2355G>C (p.Leu785Phe)
gnomAD v4
3g.101243565C>TCA434869581IMPG2c.2766G>A (p.Leu922=)
c.2472G>A (p.Leu824=)
c.2355G>A (p.Leu785=)
dbSNP
3g.101243566A=CA1388615831IMPG2c.2765T= (p.Leu922=)
c.2471T= (p.Leu824=)
c.2354T= (p.Leu785=)
3g.101243566A>CCA353855471IMPG2c.2765T>G (p.Leu922Trp)
c.2471T>G (p.Leu824Trp)
c.2354T>G (p.Leu785Trp)
3g.101243566A>GCA2518922IMPG2c.2765T>C (p.Leu922Ser)
c.2471T>C (p.Leu824Ser)
c.2354T>C (p.Leu785Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.101243566A>TCA353855482IMPG2c.2765T>A (p.Leu922Ter)
c.2471T>A (p.Leu824Ter)
c.2354T>A (p.Leu785Ter)
3g.101243566_101243569delinsAAGGCA1388615832IMPG2c.2762_2765delinsCCTT (p.Ser921=)
c.2468_2471delinsCCTT (p.Ser823=)
c.2351_2354delinsCCTT (p.Ser784=)
3g.101243567A=CA1388615833IMPG2c.2764T= (p.Leu922=)
c.2470T= (p.Leu824=)
c.2353T= (p.Leu785=)
3g.101243567A>CCA353855484IMPG2c.2764T>G (p.Leu922Val)
c.2470T>G (p.Leu824Val)
c.2353T>G (p.Leu785Val)
3g.101243567A>GCA434869582IMPG2c.2764T>C (p.Leu922=)
c.2470T>C (p.Leu824=)
c.2353T>C (p.Leu785=)
dbSNP gnomAD v3 gnomAD v4
3g.101243567A>TCA353855488IMPG2c.2764T>A (p.Leu922Met)
c.2470T>A (p.Leu824Met)
c.2353T>A (p.Leu785Met)
3g.101243569_101243571delCA916082587IMPG2c.2762_2764del (p.Ser921del)
c.2468_2470del (p.Ser823del)
c.2351_2353del (p.Ser784del)
ClinVar dbSNP
3g.101243568G>ACA434869583IMPG2c.2763C>T (p.Ser921=)
c.2469C>T (p.Ser823=)
c.2352C>T (p.Ser784=)
ClinVar dbSNP gnomAD v4
3g.101243568G>CCA434869584IMPG2c.2763C>G (p.Ser921=)
c.2469C>G (p.Ser823=)
c.2352C>G (p.Ser784=)
3g.101243568G>TCA434869585IMPG2c.2763C>A (p.Ser921=)
c.2469C>A (p.Ser823=)
c.2352C>A (p.Ser784=)
3g.101243569G>ACA353855491IMPG2c.2762C>T (p.Ser921Phe)
c.2468C>T (p.Ser823Phe)
c.2351C>T (p.Ser784Phe)
dbSNP gnomAD v3 gnomAD v4
3g.101243569G>CCA353855492IMPG2c.2762C>G (p.Ser921Cys)
c.2468C>G (p.Ser823Cys)
c.2351C>G (p.Ser784Cys)
dbSNP gnomAD v4
3g.101243569G=CA1388615834IMPG2c.2762C= (p.Ser921=)
c.2468C= (p.Ser823=)
c.2351C= (p.Ser784=)
3g.101243569G>TCA353855494IMPG2c.2762C>A (p.Ser921Tyr)
c.2468C>A (p.Ser823Tyr)
c.2351C>A (p.Ser784Tyr)
3g.101243570A=CA1388615835IMPG2c.2761T= (p.Ser921=)
c.2467T= (p.Ser823=)
c.2350T= (p.Ser784=)
3g.101243570A>CCA353855497IMPG2c.2761T>G (p.Ser921Ala)
c.2467T>G (p.Ser823Ala)
c.2350T>G (p.Ser784Ala)
COSMIC
3g.101243570A>GCA353855500IMPG2c.2761T>C (p.Ser921Pro)
c.2467T>C (p.Ser823Pro)
c.2350T>C (p.Ser784Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.101243570A>TCA353855503IMPG2c.2761T>A (p.Ser921Thr)
c.2467T>A (p.Ser823Thr)
c.2350T>A (p.Ser784Thr)
3g.101243571G>ACA434869586IMPG2c.2760C>T (p.Asn920=)
c.2466C>T (p.Asn822=)
c.2349C>T (p.Asn783=)
dbSNP gnomAD v3 gnomAD v4
3g.101243571G>CCA2518923IMPG2c.2760C>G (p.Asn920Lys)
c.2466C>G (p.Asn822Lys)
c.2349C>G (p.Asn783Lys)
dbSNP ExAC gnomAD v3 gnomAD v4
3g.101243571G=CA1388615836IMPG2c.2760C= (p.Asn920=)
c.2466C= (p.Asn822=)
c.2349C= (p.Asn783=)
3g.101243571G>TCA353855517IMPG2c.2760C>A (p.Asn920Lys)
c.2466C>A (p.Asn822Lys)
c.2349C>A (p.Asn783Lys)
3g.101243572T>ACA353855522IMPG2c.2759A>T (p.Asn920Ile)
c.2465A>T (p.Asn822Ile)
c.2348A>T (p.Asn783Ile)
3g.101243572T>CCA353855526IMPG2c.2759A>G (p.Asn920Ser)
c.2465A>G (p.Asn822Ser)
c.2348A>G (p.Asn783Ser)
3g.101243572T>GCA353855520IMPG2c.2759A>C (p.Asn920Thr)
c.2465A>C (p.Asn822Thr)
c.2348A>C (p.Asn783Thr)
3g.101243576dupCA2666780726IMPG2c.2759dup (p.Asn920LysfsTer6)
c.2465dup (p.Asn822LysfsTer6)
c.2348dup (p.Asn783LysfsTer6)
gnomAD v4
3g.101243573T>ACA353855534IMPG2c.2758A>T (p.Asn920Tyr)
c.2464A>T (p.Asn822Tyr)
c.2347A>T (p.Asn783Tyr)
3g.101243573T>CCA353855543IMPG2c.2758A>G (p.Asn920Asp)
c.2464A>G (p.Asn822Asp)
c.2347A>G (p.Asn783Asp)
gnomAD v4
3g.101243573T>GCA353855545IMPG2c.2758A>C (p.Asn920His)
c.2464A>C (p.Asn822His)
c.2347A>C (p.Asn783His)
3g.101243574T>ACA353855553IMPG2c.2757A>T (p.Lys919Asn)
c.2463A>T (p.Lys821Asn)
c.2346A>T (p.Lys782Asn)
3g.101243574T>CCA434869587IMPG2c.2757A>G (p.Lys919=)
c.2463A>G (p.Lys821=)
c.2346A>G (p.Lys782=)
3g.101243574T>GCA353855554IMPG2c.2757A>C (p.Lys919Asn)
c.2463A>C (p.Lys821Asn)
c.2346A>C (p.Lys782Asn)
3g.101243575T>ACA353855559IMPG2c.2756A>T (p.Lys919Ile)
c.2462A>T (p.Lys821Ile)
c.2345A>T (p.Lys782Ile)
3g.101243575T>CCA353855555IMPG2c.2756A>G (p.Lys919Arg)
c.2462A>G (p.Lys821Arg)
c.2345A>G (p.Lys782Arg)
3g.101243575T>GCA353855556IMPG2c.2756A>C (p.Lys919Thr)
c.2462A>C (p.Lys821Thr)
c.2345A>C (p.Lys782Thr)
3g.101243576T>ACA353855564IMPG2c.2755A>T (p.Lys919Ter)
c.2461A>T (p.Lys821Ter)
c.2344A>T (p.Lys782Ter)
3g.101243576T>CCA353855579IMPG2c.2755A>G (p.Lys919Glu)
c.2461A>G (p.Lys821Glu)
c.2344A>G (p.Lys782Glu)
3g.101243576T>GCA353855582IMPG2c.2755A>C (p.Lys919Gln)
c.2461A>C (p.Lys821Gln)
c.2344A>C (p.Lys782Gln)
3g.101243577A>CCA353855585IMPG2c.2754T>G (p.Asn918Lys)
c.2460T>G (p.Asn820Lys)
c.2343T>G (p.Asn781Lys)
3g.101243577A>GCA434869588IMPG2c.2754T>C (p.Asn918=)
c.2460T>C (p.Asn820=)
c.2343T>C (p.Asn781=)
3g.101243577A>TCA353855587IMPG2c.2754T>A (p.Asn918Lys)
c.2460T>A (p.Asn820Lys)
c.2343T>A (p.Asn781Lys)
3g.101243578T>ACA353855588IMPG2c.2753A>T (p.Asn918Ile)
c.2459A>T (p.Asn820Ile)
c.2342A>T (p.Asn781Ile)
3g.101243578T>CCA353855599IMPG2c.2753A>G (p.Asn918Ser)
c.2459A>G (p.Asn820Ser)
c.2342A>G (p.Asn781Ser)
3g.101243578T>GCA353855595IMPG2c.2753A>C (p.Asn918Thr)
c.2459A>C (p.Asn820Thr)
c.2342A>C (p.Asn781Thr)
3g.101243579T>ACA353855629IMPG2c.2752A>T (p.Asn918Tyr)
c.2458A>T (p.Asn820Tyr)
c.2341A>T (p.Asn781Tyr)
gnomAD v4
3g.101243579T>CCA2518924IMPG2c.2752A>G (p.Asn918Asp)
c.2458A>G (p.Asn820Asp)
c.2341A>G (p.Asn781Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.101243579T>GCA353855634IMPG2c.2752A>C (p.Asn918His)
c.2458A>C (p.Asn820His)
c.2341A>C (p.Asn781His)
dbSNP gnomAD v4
3g.101243579T=CA1388615837IMPG2c.2752A= (p.Asn918=)
c.2458A= (p.Asn820=)
c.2341A= (p.Asn781=)
3g.101243580A>CCA353855638IMPG2c.2751T>G (p.Phe917Leu)
c.2457T>G (p.Phe819Leu)
c.2340T>G (p.Phe780Leu)
3g.101243580A>GCA434869589IMPG2c.2751T>C (p.Phe917=)
c.2457T>C (p.Phe819=)
c.2340T>C (p.Phe780=)
3g.101243580A>TCA353855640IMPG2c.2751T>A (p.Phe917Leu)
c.2457T>A (p.Phe819Leu)
c.2340T>A (p.Phe780Leu)
3g.101243581A>CCA353855649IMPG2c.2750T>G (p.Phe917Cys)
c.2456T>G (p.Phe819Cys)
c.2339T>G (p.Phe780Cys)
3g.101243581A>GCA353855652IMPG2c.2750T>C (p.Phe917Ser)
c.2456T>C (p.Phe819Ser)
c.2339T>C (p.Phe780Ser)
3g.101243581A>TCA353855659IMPG2c.2750T>A (p.Phe917Tyr)
c.2456T>A (p.Phe819Tyr)
c.2339T>A (p.Phe780Tyr)
3g.101243582A>CCA353855665IMPG2c.2749T>G (p.Phe917Val)
c.2455T>G (p.Phe819Val)
c.2338T>G (p.Phe780Val)
3g.101243582A>GCA353855668IMPG2c.2749T>C (p.Phe917Leu)
c.2455T>C (p.Phe819Leu)
c.2338T>C (p.Phe780Leu)
3g.101243582A>TCA353855673IMPG2c.2749T>A (p.Phe917Ile)
c.2455T>A (p.Phe819Ile)
c.2338T>A (p.Phe780Ile)
3g.101243583C>ACA434869590IMPG2c.2748G>T (p.Leu916=)
c.2454G>T (p.Leu818=)
c.2337G>T (p.Leu779=)
3g.101243583C>GCA434869591IMPG2c.2748G>C (p.Leu916=)
c.2454G>C (p.Leu818=)
c.2337G>C (p.Leu779=)
3g.101243583C>TCA434869592IMPG2c.2748G>A (p.Leu916=)
c.2454G>A (p.Leu818=)
c.2337G>A (p.Leu779=)
gnomAD v4
3g.101243584A>CCA353855678IMPG2c.2747T>G (p.Leu916Arg)
c.2453T>G (p.Leu818Arg)
c.2336T>G (p.Leu779Arg)
3g.101243584A>GCA353855690IMPG2c.2747T>C (p.Leu916Pro)
c.2453T>C (p.Leu818Pro)
c.2336T>C (p.Leu779Pro)
3g.101243584A>TCA353855691IMPG2c.2747T>A (p.Leu916Gln)
c.2453T>A (p.Leu818Gln)
c.2336T>A (p.Leu779Gln)
3g.101243585G>ACA434869593IMPG2c.2746C>T (p.Leu916=)
c.2452C>T (p.Leu818=)
c.2335C>T (p.Leu779=)
3g.101243585G>CCA353855695IMPG2c.2746C>G (p.Leu916Val)
c.2452C>G (p.Leu818Val)
c.2335C>G (p.Leu779Val)
gnomAD v4
3g.101243585G=CA1388615838IMPG2c.2746C= (p.Leu916=)
c.2452C= (p.Leu818=)
c.2335C= (p.Leu779=)
3g.101243585G>TCA79722036IMPG2c.2746C>A (p.Leu916Met)
c.2452C>A (p.Leu818Met)
c.2335C>A (p.Leu779Met)
dbSNP gnomAD v3 gnomAD v4
3g.101243586A>CCA353855696IMPG2c.2745T>G (p.Asp915Glu)
c.2451T>G (p.Asp817Glu)
c.2334T>G (p.Asp778Glu)
3g.101243586A>GCA434869594IMPG2c.2745T>C (p.Asp915=)
c.2451T>C (p.Asp817=)
c.2334T>C (p.Asp778=)
gnomAD v4
3g.101243586A>TCA353855697IMPG2c.2745T>A (p.Asp915Glu)
c.2451T>A (p.Asp817Glu)
c.2334T>A (p.Asp778Glu)
3g.101243587T>ACA353855699IMPG2c.2744A>T (p.Asp915Val)
c.2450A>T (p.Asp817Val)
c.2333A>T (p.Asp778Val)
gnomAD v4
3g.101243587T>CCA353855703IMPG2c.2744A>G (p.Asp915Gly)
c.2450A>G (p.Asp817Gly)
c.2333A>G (p.Asp778Gly)
dbSNP gnomAD v4
3g.101243587T>GCA353855704IMPG2c.2744A>C (p.Asp915Ala)
c.2450A>C (p.Asp817Ala)
c.2333A>C (p.Asp778Ala)
3g.101243587T=CA1388615839IMPG2c.2744A= (p.Asp915=)
c.2450A= (p.Asp817=)
c.2333A= (p.Asp778=)
3g.101243590_101243592delCA2577839095IMPG2c.2742_2744del (p.Glu914del)
c.2448_2450del (p.Glu816del)
c.2331_2333del (p.Glu777del)
ClinVar
3g.101243588C>ACA353855708IMPG2c.2743G>T (p.Asp915Tyr)
c.2449G>T (p.Asp817Tyr)
c.2332G>T (p.Asp778Tyr)
3g.101243588C>GCA353855710IMPG2c.2743G>C (p.Asp915His)
c.2449G>C (p.Asp817His)
c.2332G>C (p.Asp778His)
3g.101243588C>TCA353855712IMPG2c.2743G>A (p.Asp915Asn)
c.2449G>A (p.Asp817Asn)
c.2332G>A (p.Asp778Asn)
3g.101243589T>ACA353855716IMPG2c.2742A>T (p.Glu914Asp)
c.2448A>T (p.Glu816Asp)
c.2331A>T (p.Glu777Asp)
3g.101243589T>CCA434869595IMPG2c.2742A>G (p.Glu914=)
c.2448A>G (p.Glu816=)
c.2331A>G (p.Glu777=)
3g.101243589T>GCA353855719IMPG2c.2742A>C (p.Glu914Asp)
c.2448A>C (p.Glu816Asp)
c.2331A>C (p.Glu777Asp)
3g.101243590T>ACA353855724IMPG2c.2741A>T (p.Glu914Val)
c.2447A>T (p.Glu816Val)
c.2330A>T (p.Glu777Val)
3g.101243590T>CCA353855730IMPG2c.2741A>G (p.Glu914Gly)
c.2447A>G (p.Glu816Gly)
c.2330A>G (p.Glu777Gly)
gnomAD v4
3g.101243590T>GCA353855732IMPG2c.2741A>C (p.Glu914Ala)
c.2447A>C (p.Glu816Ala)
c.2330A>C (p.Glu777Ala)
3g.101243591C>ACA353855749IMPG2c.2740G>T (p.Glu914Ter)
c.2446G>T (p.Glu816Ter)
c.2329G>T (p.Glu777Ter)
3g.101243591C>GCA353855737IMPG2c.2740G>C (p.Glu914Gln)
c.2446G>C (p.Glu816Gln)
c.2329G>C (p.Glu777Gln)
3g.101243591C>TCA353855735IMPG2c.2740G>A (p.Glu914Lys)
c.2446G>A (p.Glu816Lys)
c.2329G>A (p.Glu777Lys)
3g.101243591_101243592delinsCTCA1388615840IMPG2c.2739_2740delinsAG (p.Ser913=)
c.2445_2446delinsAG (p.Ser815=)
c.2328_2329delinsAG (p.Ser776=)
3g.101243592delCA545494269IMPG2c.2739del (p.Glu914LysfsTer19)
c.2445del (p.Glu816LysfsTer19)
c.2328del (p.Glu777LysfsTer19)
dbSNP gnomAD v2 gnomAD v4
3g.101243592T>ACA434869596IMPG2c.2739A>T (p.Ser913=)
c.2445A>T (p.Ser815=)
c.2328A>T (p.Ser776=)
gnomAD v4
3g.101243592T>CCA434869598IMPG2c.2739A>G (p.Ser913=)
c.2445A>G (p.Ser815=)
c.2328A>G (p.Ser776=)
dbSNP gnomAD v3 gnomAD v4
3g.101243592T>GCA434869597IMPG2c.2739A>C (p.Ser913=)
c.2445A>C (p.Ser815=)
c.2328A>C (p.Ser776=)
dbSNP gnomAD v4
3g.101243592T=CA1388615841IMPG2c.2739A= (p.Ser913=)
c.2445A= (p.Ser815=)
c.2328A= (p.Ser776=)
3g.101243593G>ACA353855750IMPG2c.2738C>T (p.Ser913Leu)
c.2444C>T (p.Ser815Leu)
c.2327C>T (p.Ser776Leu)
3g.101243593G>CCA353855751IMPG2c.2738C>G (p.Ser913Ter)
c.2444C>G (p.Ser815Ter)
c.2327C>G (p.Ser776Ter)
3g.101243593G>TCA353855752IMPG2c.2738C>A (p.Ser913Ter)
c.2444C>A (p.Ser815Ter)
c.2327C>A (p.Ser776Ter)
3g.101243594A>CCA353855755IMPG2c.2737T>G (p.Ser913Ala)
c.2443T>G (p.Ser815Ala)
c.2326T>G (p.Ser776Ala)
3g.101243594A>GCA353855757IMPG2c.2737T>C (p.Ser913Pro)
c.2443T>C (p.Ser815Pro)
c.2326T>C (p.Ser776Pro)
3g.101243594A>TCA353855758IMPG2c.2737T>A (p.Ser913Thr)
c.2443T>A (p.Ser815Thr)
c.2326T>A (p.Ser776Thr)
3g.101243595A>CCA353855760IMPG2c.2736T>G (p.Phe912Leu)
c.2442T>G (p.Phe814Leu)
c.2325T>G (p.Phe775Leu)
3g.101243595A>GCA434869599IMPG2c.2736T>C (p.Phe912=)
c.2442T>C (p.Phe814=)
c.2325T>C (p.Phe775=)
3g.101243595A>TCA353855759IMPG2c.2736T>A (p.Phe912Leu)
c.2442T>A (p.Phe814Leu)
c.2325T>A (p.Phe775Leu)
3g.101243596A>CCA353855761IMPG2c.2735T>G (p.Phe912Cys)
c.2441T>G (p.Phe814Cys)
c.2324T>G (p.Phe775Cys)
3g.101243596A>GCA353855762IMPG2c.2735T>C (p.Phe912Ser)
c.2441T>C (p.Phe814Ser)
c.2324T>C (p.Phe775Ser)
3g.101243596A>TCA353855763IMPG2c.2735T>A (p.Phe912Tyr)
c.2441T>A (p.Phe814Tyr)
c.2324T>A (p.Phe775Tyr)
3g.101243597A>CCA353855764IMPG2c.2734T>G (p.Phe912Val)
c.2440T>G (p.Phe814Val)
c.2323T>G (p.Phe775Val)
3g.101243597A>GCA353855765IMPG2c.2734T>C (p.Phe912Leu)
c.2440T>C (p.Phe814Leu)
c.2323T>C (p.Phe775Leu)
3g.101243597A>TCA353855766IMPG2c.2734T>A (p.Phe912Ile)
c.2440T>A (p.Phe814Ile)
c.2323T>A (p.Phe775Ile)
3g.101243598C>ACA353855767IMPG2c.2733G>T (p.Met911Ile)
c.2439G>T (p.Met813Ile)
c.2322G>T (p.Met774Ile)
3g.101243598C>GCA353855771IMPG2c.2733G>C (p.Met911Ile)
c.2439G>C (p.Met813Ile)
c.2322G>C (p.Met774Ile)
3g.101243598C>TCA353855768IMPG2c.2733G>A (p.Met911Ile)
c.2439G>A (p.Met813Ile)
c.2322G>A (p.Met774Ile)
COSMIC
3g.101243599A>CCA353855773IMPG2c.2732T>G (p.Met911Arg)
c.2438T>G (p.Met813Arg)
c.2321T>G (p.Met774Arg)
3g.101243599A>GCA353855778IMPG2c.2732T>C (p.Met911Thr)
c.2438T>C (p.Met813Thr)
c.2321T>C (p.Met774Thr)
3g.101243599A>TCA353855779IMPG2c.2732T>A (p.Met911Lys)
c.2438T>A (p.Met813Lys)
c.2321T>A (p.Met774Lys)
ClinVar gnomAD v4
3g.101243600T>ACA353855780IMPG2c.2731A>T (p.Met911Leu)
c.2437A>T (p.Met813Leu)
c.2320A>T (p.Met774Leu)
dbSNP
3g.101243600T>CCA353855781IMPG2c.2731A>G (p.Met911Val)
c.2437A>G (p.Met813Val)
c.2320A>G (p.Met774Val)
3g.101243600T>GCA353855782IMPG2c.2731A>C (p.Met911Leu)
c.2437A>C (p.Met813Leu)
c.2320A>C (p.Met774Leu)
3g.101243600T=CA1388615842IMPG2c.2731A= (p.Met911=)
c.2437A= (p.Met813=)
c.2320A= (p.Met774=)
3g.101243600_101243601delinsTCCA1388615843IMPG2c.2730_2731delinsGA (p.Met910=)
c.2436_2437delinsGA (p.Met812=)
c.2319_2320delinsGA (p.Met773=)
3g.101243601delCA79722048IMPG2c.2730del (p.Met910IlefsTer23)
c.2436del (p.Met812IlefsTer23)
c.2319del (p.Met773IlefsTer23)
dbSNP gnomAD v2 gnomAD v4
3g.101243601C>ACA353855784IMPG2c.2730G>T (p.Met910Ile)
c.2436G>T (p.Met812Ile)
c.2319G>T (p.Met773Ile)
dbSNP gnomAD v4
3g.101243601C=CA1388615844IMPG2c.2730G= (p.Met910=)
c.2436G= (p.Met812=)
c.2319G= (p.Met773=)
3g.101243601C>GCA353855787IMPG2c.2730G>C (p.Met910Ile)
c.2436G>C (p.Met812Ile)
c.2319G>C (p.Met773Ile)
3g.101243601C>TCA353855790IMPG2c.2730G>A (p.Met910Ile)
c.2436G>A (p.Met812Ile)
c.2319G>A (p.Met773Ile)
dbSNP gnomAD v2 gnomAD v4
3g.101243602A>CCA353855805IMPG2c.2729T>G (p.Met910Arg)
c.2435T>G (p.Met812Arg)
c.2318T>G (p.Met773Arg)
3g.101243602A>GCA353855803IMPG2c.2729T>C (p.Met910Thr)
c.2435T>C (p.Met812Thr)
c.2318T>C (p.Met773Thr)
3g.101243602A>TCA353855800IMPG2c.2729T>A (p.Met910Lys)
c.2435T>A (p.Met812Lys)
c.2318T>A (p.Met773Lys)
3g.101243603T>ACA353855809IMPG2c.2728A>T (p.Met910Leu)
c.2434A>T (p.Met812Leu)
c.2317A>T (p.Met773Leu)
3g.101243603T>CCA353855815IMPG2c.2728A>G (p.Met910Val)
c.2434A>G (p.Met812Val)
c.2317A>G (p.Met773Val)
dbSNP gnomAD v4
3g.101243603T>GCA353855813IMPG2c.2728A>C (p.Met910Leu)
c.2434A>C (p.Met812Leu)
c.2317A>C (p.Met773Leu)
dbSNP
3g.101243603T=CA1388615845IMPG2c.2728A= (p.Met910=)
c.2434A= (p.Met812=)
c.2317A= (p.Met773=)
3g.101243604G>ACA434869600IMPG2c.2727C>T (p.Asn909=)
c.2433C>T (p.Asn811=)
c.2316C>T (p.Asn772=)
gnomAD v4
3g.101243604G>CCA353855819IMPG2c.2727C>G (p.Asn909Lys)
c.2433C>G (p.Asn811Lys)
c.2316C>G (p.Asn772Lys)
ClinVar dbSNP
3g.101243604G>TCA353855821IMPG2c.2727C>A (p.Asn909Lys)
c.2433C>A (p.Asn811Lys)
c.2316C>A (p.Asn772Lys)
3g.101243606_101243609delCA2666780732IMPG2c.2724_2727del (p.Asn909Ter)
c.2430_2433del (p.Asn811Ter)
c.2313_2316del (p.Asn772Ter)
gnomAD v4
3g.101243605T>ACA353855824IMPG2c.2726A>T (p.Asn909Ile)
c.2432A>T (p.Asn811Ile)
c.2315A>T (p.Asn772Ile)
3g.101243605T>CCA353855825IMPG2c.2726A>G (p.Asn909Ser)
c.2432A>G (p.Asn811Ser)
c.2315A>G (p.Asn772Ser)
COSMIC
3g.101243605T>GCA353855828IMPG2c.2726A>C (p.Asn909Thr)
c.2432A>C (p.Asn811Thr)
c.2315A>C (p.Asn772Thr)
3g.101243606T>ACA353855830IMPG2c.2725A>T (p.Asn909Tyr)
c.2431A>T (p.Asn811Tyr)
c.2314A>T (p.Asn772Tyr)
3g.101243606T>CCA353855832IMPG2c.2725A>G (p.Asn909Asp)
c.2431A>G (p.Asn811Asp)
c.2314A>G (p.Asn772Asp)
3g.101243606T>GCA353855835IMPG2c.2725A>C (p.Asn909His)
c.2431A>C (p.Asn811His)
c.2314A>C (p.Asn772His)
3g.101243607A>CCA434869603IMPG2c.2724T>G (p.Thr908=)
c.2430T>G (p.Thr810=)
c.2313T>G (p.Thr771=)
3g.101243607A>GCA434869602IMPG2c.2724T>C (p.Thr908=)
c.2430T>C (p.Thr810=)
c.2313T>C (p.Thr771=)
3g.101243607A>TCA434869601IMPG2c.2724T>A (p.Thr908=)
c.2430T>A (p.Thr810=)
c.2313T>A (p.Thr771=)
3g.101243608G>ACA2518925IMPG2c.2723C>T (p.Thr908Ile)
c.2429C>T (p.Thr810Ile)
c.2312C>T (p.Thr771Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.101243608G>CCA353855844IMPG2c.2723C>G (p.Thr908Ser)
c.2429C>G (p.Thr810Ser)
c.2312C>G (p.Thr771Ser)
3g.101243608G=CA1388615846IMPG2c.2723C= (p.Thr908=)
c.2429C= (p.Thr810=)
c.2312C= (p.Thr771=)
3g.101243608G>TCA353855849IMPG2c.2723C>A (p.Thr908Asn)
c.2429C>A (p.Thr810Asn)
c.2312C>A (p.Thr771Asn)
3g.101243609T>ACA353855856IMPG2c.2722A>T (p.Thr908Ser)
c.2428A>T (p.Thr810Ser)
c.2311A>T (p.Thr771Ser)
3g.101243609T>CCA353855855IMPG2c.2722A>G (p.Thr908Ala)
c.2428A>G (p.Thr810Ala)
c.2311A>G (p.Thr771Ala)
3g.101243609T>GCA353855852IMPG2c.2722A>C (p.Thr908Pro)
c.2428A>C (p.Thr810Pro)
c.2311A>C (p.Thr771Pro)
3g.101243610C>ACA2518926IMPG2c.2721G>T (p.Val907=)
c.2427G>T (p.Val809=)
c.2310G>T (p.Val770=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.101243610C=CA1388615847IMPG2c.2721G= (p.Val907=)
c.2427G= (p.Val809=)
c.2310G= (p.Val770=)
3g.101243610C>GCA434869604IMPG2c.2721G>C (p.Val907=)
c.2427G>C (p.Val809=)
c.2310G>C (p.Val770=)
3g.101243610C>TCA79722110IMPG2c.2721G>A (p.Val907=)
c.2427G>A (p.Val809=)
c.2310G>A (p.Val770=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.101243611A>CCA353855860IMPG2c.2720T>G (p.Val907Gly)
c.2426T>G (p.Val809Gly)
c.2309T>G (p.Val770Gly)
3g.101243611A>GCA353855863IMPG2c.2720T>C (p.Val907Ala)
c.2426T>C (p.Val809Ala)
c.2309T>C (p.Val770Ala)
3g.101243611A>TCA353855865IMPG2c.2720T>A (p.Val907Glu)
c.2426T>A (p.Val809Glu)
c.2309T>A (p.Val770Glu)
3g.101243612C>ACA353855867IMPG2c.2719G>T (p.Val907Leu)
c.2425G>T (p.Val809Leu)
c.2308G>T (p.Val770Leu)
3g.101243612C=CA1388615848IMPG2c.2719G= (p.Val907=)
c.2425G= (p.Val809=)
c.2308G= (p.Val770=)
3g.101243612C>GCA353855869IMPG2c.2719G>C (p.Val907Leu)
c.2425G>C (p.Val809Leu)
c.2308G>C (p.Val770Leu)
dbSNP gnomAD v2 gnomAD v4
3g.101243612C>TCA2518927IMPG2c.2719G>A (p.Val907Met)
c.2425G>A (p.Val809Met)
c.2308G>A (p.Val770Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.101243613T>ACA434869605IMPG2c.2718A>T (p.Arg906=)
c.2424A>T (p.Arg808=)
c.2307A>T (p.Arg769=)
3g.101243613T>CCA434869606IMPG2c.2718A>G (p.Arg906=)
c.2424A>G (p.Arg808=)
c.2307A>G (p.Arg769=)
3g.101243613T>GCA434869607IMPG2c.2718A>C (p.Arg906=)
c.2424A>C (p.Arg808=)
c.2307A>C (p.Arg769=)
3g.101243614C>ACA353855873IMPG2c.2717G>T (p.Arg906Leu)
c.2423G>T (p.Arg808Leu)
c.2306G>T (p.Arg769Leu)
3g.101243614C=CA1388615849IMPG2c.2717G= (p.Arg906=)
c.2423G= (p.Arg808=)
c.2306G= (p.Arg769=)
3g.101243614C>GCA353855875IMPG2c.2717G>C (p.Arg906Pro)
c.2423G>C (p.Arg808Pro)
c.2306G>C (p.Arg769Pro)
3g.101243614C>TCA353855876IMPG2c.2717G>A (p.Arg906Gln)
c.2423G>A (p.Arg808Gln)
c.2306G>A (p.Arg769Gln)
ClinVar dbSNP gnomAD v4
3g.101243615G>ACA252813IMPG2c.2716C>T (p.Arg906Ter)
c.2422C>T (p.Arg808Ter)
c.2305C>T (p.Arg769Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.101243615G>CCA353855880IMPG2c.2716C>G (p.Arg906Gly)
c.2422C>G (p.Arg808Gly)
c.2305C>G (p.Arg769Gly)
3g.101243615G=CA1388615850IMPG2c.2716C= (p.Arg906=)
c.2422C= (p.Arg808=)
c.2305C= (p.Arg769=)
3g.101243615G>TCA434869608IMPG2c.2716C>A (p.Arg906=)
c.2422C>A (p.Arg808=)
c.2305C>A (p.Arg769=)
3g.101243616G>ACA434869609IMPG2c.2715C>T (p.Leu905=)
c.2421C>T (p.Leu807=)
c.2304C>T (p.Leu768=)
dbSNP
3g.101243616G>CCA434869610IMPG2c.2715C>G (p.Leu905=)
c.2421C>G (p.Leu807=)
c.2304C>G (p.Leu768=)
3g.101243616G>TCA434869611IMPG2c.2715C>A (p.Leu905=)
c.2421C>A (p.Leu807=)
c.2304C>A (p.Leu768=)
3g.101243617A>CCA353855894IMPG2c.2714T>G (p.Leu905Arg)
c.2420T>G (p.Leu807Arg)
c.2303T>G (p.Leu768Arg)
3g.101243617A>GCA353855891IMPG2c.2714T>C (p.Leu905Pro)
c.2420T>C (p.Leu807Pro)
c.2303T>C (p.Leu768Pro)
3g.101243617A>TCA353855885IMPG2c.2714T>A (p.Leu905His)
c.2420T>A (p.Leu807His)
c.2303T>A (p.Leu768His)
3g.101243618G>ACA353855902IMPG2c.2713C>T (p.Leu905Phe)
c.2419C>T (p.Leu807Phe)
c.2302C>T (p.Leu768Phe)
3g.101243618G>CCA353855897IMPG2c.2713C>G (p.Leu905Val)
c.2419C>G (p.Leu807Val)
c.2302C>G (p.Leu768Val)
3g.101243618G>TCA353855900IMPG2c.2713C>A (p.Leu905Ile)
c.2419C>A (p.Leu807Ile)
c.2302C>A (p.Leu768Ile)
3g.101243619G>ACA434869612IMPG2c.2712C>T (p.Ser904=)
c.2418C>T (p.Ser806=)
c.2301C>T (p.Ser767=)
3g.101243619G>CCA353855905IMPG2c.2712C>G (p.Ser904Arg)
c.2418C>G (p.Ser806Arg)
c.2301C>G (p.Ser767Arg)
3g.101243619G>TCA353855907IMPG2c.2712C>A (p.Ser904Arg)
c.2418C>A (p.Ser806Arg)
c.2301C>A (p.Ser767Arg)
3g.101243620C>ACA353855911IMPG2c.2711G>T (p.Ser904Ile)
c.2417G>T (p.Ser806Ile)
c.2300G>T (p.Ser767Ile)
dbSNP gnomAD v2 gnomAD v4
3g.101243620C=CA1388615851IMPG2c.2711G= (p.Ser904=)
c.2417G= (p.Ser806=)
c.2300G= (p.Ser767=)
3g.101243620C>GCA353855914IMPG2c.2711G>C (p.Ser904Thr)
c.2417G>C (p.Ser806Thr)
c.2300G>C (p.Ser767Thr)
3g.101243620C>TCA353855915IMPG2c.2711G>A (p.Ser904Asn)
c.2417G>A (p.Ser806Asn)
c.2300G>A (p.Ser767Asn)
gnomAD v4

Number of alleles fetched