Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.101243520T>C | CA2518918 | IMPG2 | c.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 |
3 | g.101243520T= | CA1388615815 | IMPG2 | c.2802+9A= (n.2802+9A=) c.2508+9A= (n.2508+9A=) c.2391+9A= (n.2391+9A=) | |
3 | g.101243521A= | CA1388615816 | IMPG2 | c.2802+8T= (n.2802+8T=) c.2508+8T= (n.2508+8T=) c.2391+8T= (n.2391+8T=) | |
3 | g.101243521A>G | CA10614363 | IMPG2 | c.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 |
3 | g.101243522T>C | CA79721982 | IMPG2 | c.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 |
3 | g.101243522T= | CA1388615817 | IMPG2 | c.2802+7A= (n.2802+7A=) c.2508+7A= (n.2508+7A=) c.2391+7A= (n.2391+7A=) | |
3 | g.101243522_101243523del | CA2534322502 | IMPG2 | c.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) | |
3 | g.101243523G>C | CA2666780719 | IMPG2 | c.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 |
3 | g.101243525T>C | CA896166167 | IMPG2 | c.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 |
3 | g.101243525T= | CA1388615818 | IMPG2 | c.2802+4A= (n.2802+4A=) c.2508+4A= (n.2508+4A=) c.2391+4A= (n.2391+4A=) | |
3 | g.101243526del | CA2577839094 | IMPG2 | c.2802+4del (n.2802+4del) c.2508+4del (n.2508+4del) c.2391+4del (n.2391+4del) | |
3 | g.101243526T>C | CA545494268 | IMPG2 | c.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 |
3 | g.101243526T= | CA1388615819 | IMPG2 | c.2802+3A= (n.2802+3A=) c.2508+3A= (n.2508+3A=) c.2391+3A= (n.2391+3A=) | |
3 | g.101243527A>C | CA353855251 | IMPG2 | c.2802+2T>G (n.2802+2T>G) c.2508+2T>G (n.2508+2T>G) c.2391+2T>G (n.2391+2T>G) | |
3 | g.101243527A>G | CA353855245 | IMPG2 | c.2802+2T>C (n.2802+2T>C) c.2508+2T>C (n.2508+2T>C) c.2391+2T>C (n.2391+2T>C) | |
3 | g.101243527A>T | CA353855248 | IMPG2 | c.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 |
3 | g.101243528C>A | CA353855252 | IMPG2 | c.2802+1G>T (n.2802+1G>T) c.2508+1G>T (n.2508+1G>T) c.2391+1G>T (n.2391+1G>T) | |
3 | g.101243528C>G | CA353855253 | IMPG2 | c.2802+1G>C (n.2802+1G>C) c.2508+1G>C (n.2508+1G>C) c.2391+1G>C (n.2391+1G>C) | |
3 | g.101243528C>T | CA353855254 | IMPG2 | c.2802+1G>A (n.2802+1G>A) c.2508+1G>A (n.2508+1G>A) c.2391+1G>A (n.2391+1G>A) | |
3 | g.101243529C>A | CA353855255 | IMPG2 | c.2802G>T (p.Leu934Phe) c.2508G>T (p.Leu836Phe) c.2391G>T (p.Leu797Phe) | |
3 | g.101243529C>G | CA353855257 | IMPG2 | c.2802G>C (p.Leu934Phe) c.2508G>C (p.Leu836Phe) c.2391G>C (p.Leu797Phe) | |
3 | g.101243529C>T | CA434869562 | IMPG2 | c.2802G>A (p.Leu934=) c.2508G>A (p.Leu836=) c.2391G>A (p.Leu797=) | |
3 | g.101243530A>C | CA353855263 | IMPG2 | c.2801T>G (p.Leu934Trp) c.2507T>G (p.Leu836Trp) c.2390T>G (p.Leu797Trp) | |
3 | g.101243530A>G | CA353855266 | IMPG2 | c.2801T>C (p.Leu934Ser) c.2507T>C (p.Leu836Ser) c.2390T>C (p.Leu797Ser) | |
3 | g.101243530A>T | CA353855269 | IMPG2 | c.2801T>A (p.Leu934Ter) c.2507T>A (p.Leu836Ter) c.2390T>A (p.Leu797Ter) | |
3 | g.101243531A= | CA1388615820 | IMPG2 | c.2800T= (p.Leu934=) c.2506T= (p.Leu836=) c.2389T= (p.Leu797=) | |
3 | g.101243531A>C | CA353855272 | IMPG2 | c.2800T>G (p.Leu934Val) c.2506T>G (p.Leu836Val) c.2389T>G (p.Leu797Val) | |
3 | g.101243531A>G | CA2518919 | IMPG2 | c.2800T>C (p.Leu934=) c.2506T>C (p.Leu836=) c.2389T>C (p.Leu797=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243531A>T | CA353855282 | IMPG2 | c.2800T>A (p.Leu934Met) c.2506T>A (p.Leu836Met) c.2389T>A (p.Leu797Met) | |
3 | g.101243532T>A | CA353855288 | IMPG2 | c.2799A>T (p.Glu933Asp) c.2505A>T (p.Glu835Asp) c.2388A>T (p.Glu796Asp) | |
3 | g.101243532T>C | CA434869563 | IMPG2 | c.2799A>G (p.Glu933=) c.2505A>G (p.Glu835=) c.2388A>G (p.Glu796=) | |
3 | g.101243532T>G | CA353855285 | IMPG2 | c.2799A>C (p.Glu933Asp) c.2505A>C (p.Glu835Asp) c.2388A>C (p.Glu796Asp) | dbSNP |
3 | g.101243532T= | CA1388615821 | IMPG2 | c.2799A= (p.Glu933=) c.2505A= (p.Glu835=) c.2388A= (p.Glu796=) | |
3 | g.101243533T>A | CA353855290 | IMPG2 | c.2798A>T (p.Glu933Val) c.2504A>T (p.Glu835Val) c.2387A>T (p.Glu796Val) | |
3 | g.101243533T>C | CA353855292 | IMPG2 | c.2798A>G (p.Glu933Gly) c.2504A>G (p.Glu835Gly) c.2387A>G (p.Glu796Gly) | |
3 | g.101243533T>G | CA353855293 | IMPG2 | c.2798A>C (p.Glu933Ala) c.2504A>C (p.Glu835Ala) c.2387A>C (p.Glu796Ala) | |
3 | g.101243534C>A | CA353855294 | IMPG2 | c.2797G>T (p.Glu933Ter) c.2503G>T (p.Glu835Ter) c.2386G>T (p.Glu796Ter) | COSMIC |
3 | g.101243534C>G | CA353855295 | IMPG2 | c.2797G>C (p.Glu933Gln) c.2503G>C (p.Glu835Gln) c.2386G>C (p.Glu796Gln) | |
3 | g.101243534C>T | CA353855296 | IMPG2 | c.2797G>A (p.Glu933Lys) c.2503G>A (p.Glu835Lys) c.2386G>A (p.Glu796Lys) | |
3 | g.101243535T>A | CA353855298 | IMPG2 | c.2796A>T (p.Leu932Phe) c.2502A>T (p.Leu834Phe) c.2385A>T (p.Leu795Phe) | |
3 | g.101243535T>C | CA434869564 | IMPG2 | c.2796A>G (p.Leu932=) c.2502A>G (p.Leu834=) c.2385A>G (p.Leu795=) | |
3 | g.101243535T>G | CA353855300 | IMPG2 | c.2796A>C (p.Leu932Phe) c.2502A>C (p.Leu834Phe) c.2385A>C (p.Leu795Phe) | |
3 | g.101243536A>C | CA353855301 | IMPG2 | c.2795T>G (p.Leu932Ter) c.2501T>G (p.Leu834Ter) c.2384T>G (p.Leu795Ter) | |
3 | g.101243536A>G | CA353855302 | IMPG2 | c.2795T>C (p.Leu932Ser) c.2501T>C (p.Leu834Ser) c.2384T>C (p.Leu795Ser) | |
3 | g.101243536A>T | CA353855303 | IMPG2 | c.2795T>A (p.Leu932Ter) c.2501T>A (p.Leu834Ter) c.2384T>A (p.Leu795Ter) | |
3 | g.101243537A>C | CA353855305 | IMPG2 | c.2794T>G (p.Leu932Val) c.2500T>G (p.Leu834Val) c.2383T>G (p.Leu795Val) | |
3 | g.101243537A>G | CA434869565 | IMPG2 | c.2794T>C (p.Leu932=) c.2500T>C (p.Leu834=) c.2383T>C (p.Leu795=) | |
3 | g.101243537A>T | CA353855307 | IMPG2 | c.2794T>A (p.Leu932Ile) c.2500T>A (p.Leu834Ile) c.2383T>A (p.Leu795Ile) | |
3 | g.101243538G>A | CA434869566 | IMPG2 | c.2793C>T (p.Phe931=) c.2499C>T (p.Phe833=) c.2382C>T (p.Phe794=) | |
3 | g.101243538G>C | CA353855308 | IMPG2 | c.2793C>G (p.Phe931Leu) c.2499C>G (p.Phe833Leu) c.2382C>G (p.Phe794Leu) | COSMIC |
3 | g.101243538G>T | CA353855309 | IMPG2 | c.2793C>A (p.Phe931Leu) c.2499C>A (p.Phe833Leu) c.2382C>A (p.Phe794Leu) | |
3 | g.101243539A>C | CA353855310 | IMPG2 | c.2792T>G (p.Phe931Cys) c.2498T>G (p.Phe833Cys) c.2381T>G (p.Phe794Cys) | |
3 | g.101243539A>G | CA353855312 | IMPG2 | c.2792T>C (p.Phe931Ser) c.2498T>C (p.Phe833Ser) c.2381T>C (p.Phe794Ser) | |
3 | g.101243539A>T | CA353855317 | IMPG2 | c.2792T>A (p.Phe931Tyr) c.2498T>A (p.Phe833Tyr) c.2381T>A (p.Phe794Tyr) | |
3 | g.101243540A= | CA1388615822 | IMPG2 | c.2791T= (p.Phe931=) c.2497T= (p.Phe833=) c.2380T= (p.Phe794=) | |
3 | g.101243540A>C | CA353855319 | IMPG2 | c.2791T>G (p.Phe931Val) c.2497T>G (p.Phe833Val) c.2380T>G (p.Phe794Val) | |
3 | g.101243540A>G | CA2518920 | IMPG2 | c.2791T>C (p.Phe931Leu) c.2497T>C (p.Phe833Leu) c.2380T>C (p.Phe794Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243540A>T | CA353855320 | IMPG2 | c.2791T>A (p.Phe931Ile) c.2497T>A (p.Phe833Ile) c.2380T>A (p.Phe794Ile) | |
3 | g.101243541T>A | CA353855322 | IMPG2 | c.2790A>T (p.Arg930Ser) c.2496A>T (p.Arg832Ser) c.2379A>T (p.Arg793Ser) | |
3 | g.101243541T>C | CA434869567 | IMPG2 | c.2790A>G (p.Arg930=) c.2496A>G (p.Arg832=) c.2379A>G (p.Arg793=) | |
3 | g.101243541T>G | CA353855323 | IMPG2 | c.2790A>C (p.Arg930Ser) c.2496A>C (p.Arg832Ser) c.2379A>C (p.Arg793Ser) | |
3 | g.101243542C>A | CA353855326 | IMPG2 | c.2789G>T (p.Arg930Ile) c.2495G>T (p.Arg832Ile) c.2378G>T (p.Arg793Ile) | |
3 | g.101243542C>G | CA353855328 | IMPG2 | c.2789G>C (p.Arg930Thr) c.2495G>C (p.Arg832Thr) c.2378G>C (p.Arg793Thr) | |
3 | g.101243542C>T | CA353855329 | IMPG2 | c.2789G>A (p.Arg930Lys) c.2495G>A (p.Arg832Lys) c.2378G>A (p.Arg793Lys) | |
3 | g.101243543T>A | CA353855332 | IMPG2 | c.2788A>T (p.Arg930Ter) c.2494A>T (p.Arg832Ter) c.2377A>T (p.Arg793Ter) | |
3 | g.101243543T>C | CA353855334 | IMPG2 | c.2788A>G (p.Arg930Gly) c.2494A>G (p.Arg832Gly) c.2377A>G (p.Arg793Gly) | |
3 | g.101243543T>G | CA434869568 | IMPG2 | c.2788A>C (p.Arg930=) c.2494A>C (p.Arg832=) c.2377A>C (p.Arg793=) | |
3 | g.101243544T>A | CA353855338 | IMPG2 | c.2787A>T (p.Gln929His) c.2493A>T (p.Gln831His) c.2376A>T (p.Gln792His) | |
3 | g.101243544T>C | CA434869569 | IMPG2 | c.2787A>G (p.Gln929=) c.2493A>G (p.Gln831=) c.2376A>G (p.Gln792=) | |
3 | g.101243544T>G | CA353855336 | IMPG2 | c.2787A>C (p.Gln929His) c.2493A>C (p.Gln831His) c.2376A>C (p.Gln792His) | |
3 | g.101243545T>A | CA353855340 | IMPG2 | c.2786A>T (p.Gln929Leu) c.2492A>T (p.Gln831Leu) c.2375A>T (p.Gln792Leu) | dbSNP |
3 | g.101243545T>C | CA353855342 | IMPG2 | c.2786A>G (p.Gln929Arg) c.2492A>G (p.Gln831Arg) c.2375A>G (p.Gln792Arg) | |
3 | g.101243545T>G | CA353855344 | IMPG2 | c.2786A>C (p.Gln929Pro) c.2492A>C (p.Gln831Pro) c.2375A>C (p.Gln792Pro) | |
3 | g.101243545T= | CA1388615823 | IMPG2 | c.2786A= (p.Gln929=) c.2492A= (p.Gln831=) c.2375A= (p.Gln792=) | |
3 | g.101243546G>A | CA353855346 | IMPG2 | c.2785C>T (p.Gln929Ter) c.2491C>T (p.Gln831Ter) c.2374C>T (p.Gln792Ter) | |
3 | g.101243546G>C | CA353855348 | IMPG2 | c.2785C>G (p.Gln929Glu) c.2491C>G (p.Gln831Glu) c.2374C>G (p.Gln792Glu) | |
3 | g.101243546G= | CA1388615824 | IMPG2 | c.2785C= (p.Gln929=) c.2491C= (p.Gln831=) c.2374C= (p.Gln792=) | |
3 | g.101243546G>T | CA2518921 | IMPG2 | c.2785C>A (p.Gln929Lys) c.2491C>A (p.Gln831Lys) c.2374C>A (p.Gln792Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.101243547C>A | CA353855351 | IMPG2 | c.2784G>T (p.Glu928Asp) c.2490G>T (p.Glu830Asp) c.2373G>T (p.Glu791Asp) | |
3 | g.101243547C>G | CA353855353 | IMPG2 | c.2784G>C (p.Glu928Asp) c.2490G>C (p.Glu830Asp) c.2373G>C (p.Glu791Asp) | |
3 | g.101243547C>T | CA434869570 | IMPG2 | c.2784G>A (p.Glu928=) c.2490G>A (p.Glu830=) c.2373G>A (p.Glu791=) | gnomAD v4 |
3 | g.101243548T>A | CA353855355 | IMPG2 | c.2783A>T (p.Glu928Val) c.2489A>T (p.Glu830Val) c.2372A>T (p.Glu791Val) | |
3 | g.101243548T>C | CA353855357 | IMPG2 | c.2783A>G (p.Glu928Gly) c.2489A>G (p.Glu830Gly) c.2372A>G (p.Glu791Gly) | |
3 | g.101243548T>G | CA353855359 | IMPG2 | c.2783A>C (p.Glu928Ala) c.2489A>C (p.Glu830Ala) c.2372A>C (p.Glu791Ala) | |
3 | g.101243549C>A | CA353855361 | IMPG2 | c.2782G>T (p.Glu928Ter) c.2488G>T (p.Glu830Ter) c.2371G>T (p.Glu791Ter) | |
3 | g.101243549C= | CA1388615825 | IMPG2 | c.2782G= (p.Glu928=) c.2488G= (p.Glu830=) c.2371G= (p.Glu791=) | |
3 | g.101243549C>G | CA353855362 | IMPG2 | c.2782G>C (p.Glu928Gln) c.2488G>C (p.Glu830Gln) c.2371G>C (p.Glu791Gln) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243549C>T | CA353855363 | IMPG2 | c.2782G>A (p.Glu928Lys) c.2488G>A (p.Glu830Lys) c.2371G>A (p.Glu791Lys) | gnomAD v4 |
3 | g.101243550C>A | CA434869571 | IMPG2 | c.2781G>T (p.Leu927=) c.2487G>T (p.Leu829=) c.2370G>T (p.Leu790=) | |
3 | g.101243550C= | CA1388615826 | IMPG2 | c.2781G= (p.Leu927=) c.2487G= (p.Leu829=) c.2370G= (p.Leu790=) | |
3 | g.101243550C>G | CA434869573 | IMPG2 | c.2781G>C (p.Leu927=) c.2487G>C (p.Leu829=) c.2370G>C (p.Leu790=) | |
3 | g.101243550C>T | CA434869572 | IMPG2 | c.2781G>A (p.Leu927=) c.2487G>A (p.Leu829=) c.2370G>A (p.Leu790=) | dbSNP |
3 | g.101243551A>C | CA353855365 | IMPG2 | c.2780T>G (p.Leu927Arg) c.2486T>G (p.Leu829Arg) c.2369T>G (p.Leu790Arg) | |
3 | g.101243551A>G | CA353855367 | IMPG2 | c.2780T>C (p.Leu927Pro) c.2486T>C (p.Leu829Pro) c.2369T>C (p.Leu790Pro) | |
3 | g.101243551A>T | CA353855364 | IMPG2 | c.2780T>A (p.Leu927Gln) c.2486T>A (p.Leu829Gln) c.2369T>A (p.Leu790Gln) | |
3 | g.101243552G>A | CA434869574 | IMPG2 | c.2779C>T (p.Leu927=) c.2485C>T (p.Leu829=) c.2368C>T (p.Leu790=) | COSMIC |
3 | g.101243552G>C | CA353855371 | IMPG2 | c.2779C>G (p.Leu927Val) c.2485C>G (p.Leu829Val) c.2368C>G (p.Leu790Val) | |
3 | g.101243552G>T | CA353855369 | IMPG2 | c.2779C>A (p.Leu927Met) c.2485C>A (p.Leu829Met) c.2368C>A (p.Leu790Met) | |
3 | g.101243552_101243553insCCTACGATGTTAATCCTGATGCGCCT | CA2521624715 | IMPG2 | c.2778_2779insAGGCGCATCAGGATTAACATCGTAGG (p.Leu927ArgfsTer15) c.2484_2485insAGGCGCATCAGGATTAACATCGTAGG (p.Leu829ArgfsTer15) c.2367_2368insAGGCGCATCAGGATTAACATCGTAGG (p.Leu790ArgfsTer15) | |
3 | g.101243553G>A | CA434869575 | IMPG2 | c.2778C>T (p.Ala926=) c.2484C>T (p.Ala828=) c.2367C>T (p.Ala789=) | |
3 | g.101243553G>C | CA434869576 | IMPG2 | c.2778C>G (p.Ala926=) c.2484C>G (p.Ala828=) c.2367C>G (p.Ala789=) | |
3 | g.101243553G>T | CA434869577 | IMPG2 | c.2778C>A (p.Ala926=) c.2484C>A (p.Ala828=) c.2367C>A (p.Ala789=) | gnomAD v4 |
3 | g.101243554G>A | CA353855377 | IMPG2 | c.2777C>T (p.Ala926Val) c.2483C>T (p.Ala828Val) c.2366C>T (p.Ala789Val) | gnomAD v4 |
3 | g.101243554G>C | CA353855374 | IMPG2 | c.2777C>G (p.Ala926Gly) c.2483C>G (p.Ala828Gly) c.2366C>G (p.Ala789Gly) | |
3 | g.101243554G>T | CA353855375 | IMPG2 | c.2777C>A (p.Ala926Asp) c.2483C>A (p.Ala828Asp) c.2366C>A (p.Ala789Asp) | |
3 | g.101243554_101243555insGGTTATCCTAAAAAGTGAACTTGGGATTGAGGATAAACAGCGTTCTTCAATACGTGAATGTGTTGCAAAGATAAAGGAATTGCTTACTGATGCCGC | CA2551796046 | IMPG2 | c.2776_2777insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala926GlyfsTer17) c.2482_2483insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala828GlyfsTer17) c.2365_2366insGCGGCATCAGTAAGCAATTCCTTTATCTTTGCAACACATTCACGTATTGAAGAACGCTGTTTATCCTCAATCCCAAGTTCACTTTTTAGGATAACC (p.Ala789GlyfsTer17) | |
3 | g.101243555C>A | CA353855380 | IMPG2 | c.2776G>T (p.Ala926Ser) c.2482G>T (p.Ala828Ser) c.2365G>T (p.Ala789Ser) | |
3 | g.101243555C>G | CA353855382 | IMPG2 | c.2776G>C (p.Ala926Pro) c.2482G>C (p.Ala828Pro) c.2365G>C (p.Ala789Pro) | |
3 | g.101243555C>T | CA353855384 | IMPG2 | c.2776G>A (p.Ala926Thr) c.2482G>A (p.Ala828Thr) c.2365G>A (p.Ala789Thr) | |
3 | g.101243556T>A | CA353855386 | IMPG2 | c.2775A>T (p.Lys925Asn) c.2481A>T (p.Lys827Asn) c.2364A>T (p.Lys788Asn) | |
3 | g.101243556T>C | CA434869578 | IMPG2 | c.2775A>G (p.Lys925=) c.2481A>G (p.Lys827=) c.2364A>G (p.Lys788=) | |
3 | g.101243556T>G | CA353855388 | IMPG2 | c.2775A>C (p.Lys925Asn) c.2481A>C (p.Lys827Asn) c.2364A>C (p.Lys788Asn) | |
3 | g.101243557T>A | CA353855391 | IMPG2 | c.2774A>T (p.Lys925Ile) c.2480A>T (p.Lys827Ile) c.2363A>T (p.Lys788Ile) | |
3 | g.101243557T>C | CA353855393 | IMPG2 | c.2774A>G (p.Lys925Arg) c.2480A>G (p.Lys827Arg) c.2363A>G (p.Lys788Arg) | |
3 | g.101243557T>G | CA353855395 | IMPG2 | c.2774A>C (p.Lys925Thr) c.2480A>C (p.Lys827Thr) c.2363A>C (p.Lys788Thr) | |
3 | g.101243558T>A | CA353855397 | IMPG2 | c.2773A>T (p.Lys925Ter) c.2479A>T (p.Lys827Ter) c.2362A>T (p.Lys788Ter) | |
3 | g.101243558T>C | CA353855398 | IMPG2 | c.2773A>G (p.Lys925Glu) c.2479A>G (p.Lys827Glu) c.2362A>G (p.Lys788Glu) | gnomAD v4 |
3 | g.101243558T>G | CA353855400 | IMPG2 | c.2773A>C (p.Lys925Gln) c.2479A>C (p.Lys827Gln) c.2362A>C (p.Lys788Gln) | |
3 | g.101243559A= | CA1388615827 | IMPG2 | c.2772T= (p.Tyr924=) c.2478T= (p.Tyr826=) c.2361T= (p.Tyr787=) | |
3 | g.101243559A>C | CA353855422 | IMPG2 | c.2772T>G (p.Tyr924Ter) c.2478T>G (p.Tyr826Ter) c.2361T>G (p.Tyr787Ter) | |
3 | g.101243559A>G | CA434869579 | IMPG2 | c.2772T>C (p.Tyr924=) c.2478T>C (p.Tyr826=) c.2361T>C (p.Tyr787=) | dbSNP gnomAD v4 |
3 | g.101243559A>T | CA353855402 | IMPG2 | c.2772T>A (p.Tyr924Ter) c.2478T>A (p.Tyr826Ter) c.2361T>A (p.Tyr787Ter) | |
3 | g.101243560T>A | CA353855424 | IMPG2 | c.2771A>T (p.Tyr924Phe) c.2477A>T (p.Tyr826Phe) c.2360A>T (p.Tyr787Phe) | |
3 | g.101243560T>C | CA353855425 | IMPG2 | c.2771A>G (p.Tyr924Cys) c.2477A>G (p.Tyr826Cys) c.2360A>G (p.Tyr787Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243560T>G | CA353855426 | IMPG2 | c.2771A>C (p.Tyr924Ser) c.2477A>C (p.Tyr826Ser) c.2360A>C (p.Tyr787Ser) | |
3 | g.101243560T= | CA1388615828 | IMPG2 | c.2771A= (p.Tyr924=) c.2477A= (p.Tyr826=) c.2360A= (p.Tyr787=) | |
3 | g.101243561A>C | CA353855427 | IMPG2 | c.2770T>G (p.Tyr924Asp) c.2476T>G (p.Tyr826Asp) c.2359T>G (p.Tyr787Asp) | |
3 | g.101243561A>G | CA353855428 | IMPG2 | c.2770T>C (p.Tyr924His) c.2476T>C (p.Tyr826His) c.2359T>C (p.Tyr787His) | |
3 | g.101243561A>T | CA353855429 | IMPG2 | c.2770T>A (p.Tyr924Asn) c.2476T>A (p.Tyr826Asn) c.2359T>A (p.Tyr787Asn) | |
3 | g.101243562C>A | CA353855431 | IMPG2 | c.2769G>T (p.Glu923Asp) c.2475G>T (p.Glu825Asp) c.2358G>T (p.Glu786Asp) | |
3 | g.101243562C= | CA1388615829 | IMPG2 | c.2769G= (p.Glu923=) c.2475G= (p.Glu825=) c.2358G= (p.Glu786=) | |
3 | g.101243562C>G | CA353855433 | IMPG2 | c.2769G>C (p.Glu923Asp) c.2475G>C (p.Glu825Asp) c.2358G>C (p.Glu786Asp) | gnomAD v4 |
3 | g.101243562C>T | CA434869580 | IMPG2 | c.2769G>A (p.Glu923=) c.2475G>A (p.Glu825=) c.2358G>A (p.Glu786=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243563T>A | CA353855435 | IMPG2 | c.2768A>T (p.Glu923Val) c.2474A>T (p.Glu825Val) c.2357A>T (p.Glu786Val) | |
3 | g.101243563T>C | CA353855437 | IMPG2 | c.2768A>G (p.Glu923Gly) c.2474A>G (p.Glu825Gly) c.2357A>G (p.Glu786Gly) | |
3 | g.101243563T>G | CA353855439 | IMPG2 | c.2768A>C (p.Glu923Ala) c.2474A>C (p.Glu825Ala) c.2357A>C (p.Glu786Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243563T= | CA1388615830 | IMPG2 | c.2768A= (p.Glu923=) c.2474A= (p.Glu825=) c.2357A= (p.Glu786=) | |
3 | g.101243564C>A | CA353855442 | IMPG2 | c.2767G>T (p.Glu923Ter) c.2473G>T (p.Glu825Ter) c.2356G>T (p.Glu786Ter) | |
3 | g.101243564C>G | CA353855448 | IMPG2 | c.2767G>C (p.Glu923Gln) c.2473G>C (p.Glu825Gln) c.2356G>C (p.Glu786Gln) | |
3 | g.101243564C>T | CA353855450 | IMPG2 | c.2767G>A (p.Glu923Lys) c.2473G>A (p.Glu825Lys) c.2356G>A (p.Glu786Lys) | |
3 | g.101243565C>A | CA353855466 | IMPG2 | c.2766G>T (p.Leu922Phe) c.2472G>T (p.Leu824Phe) c.2355G>T (p.Leu785Phe) | |
3 | g.101243565C>G | CA353855468 | IMPG2 | c.2766G>C (p.Leu922Phe) c.2472G>C (p.Leu824Phe) c.2355G>C (p.Leu785Phe) | gnomAD v4 |
3 | g.101243565C>T | CA434869581 | IMPG2 | c.2766G>A (p.Leu922=) c.2472G>A (p.Leu824=) c.2355G>A (p.Leu785=) | dbSNP |
3 | g.101243566A= | CA1388615831 | IMPG2 | c.2765T= (p.Leu922=) c.2471T= (p.Leu824=) c.2354T= (p.Leu785=) | |
3 | g.101243566A>C | CA353855471 | IMPG2 | c.2765T>G (p.Leu922Trp) c.2471T>G (p.Leu824Trp) c.2354T>G (p.Leu785Trp) | |
3 | g.101243566A>G | CA2518922 | IMPG2 | c.2765T>C (p.Leu922Ser) c.2471T>C (p.Leu824Ser) c.2354T>C (p.Leu785Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243566A>T | CA353855482 | IMPG2 | c.2765T>A (p.Leu922Ter) c.2471T>A (p.Leu824Ter) c.2354T>A (p.Leu785Ter) | |
3 | g.101243566_101243569delinsAAGG | CA1388615832 | IMPG2 | c.2762_2765delinsCCTT (p.Ser921=) c.2468_2471delinsCCTT (p.Ser823=) c.2351_2354delinsCCTT (p.Ser784=) | |
3 | g.101243567A= | CA1388615833 | IMPG2 | c.2764T= (p.Leu922=) c.2470T= (p.Leu824=) c.2353T= (p.Leu785=) | |
3 | g.101243567A>C | CA353855484 | IMPG2 | c.2764T>G (p.Leu922Val) c.2470T>G (p.Leu824Val) c.2353T>G (p.Leu785Val) | |
3 | g.101243567A>G | CA434869582 | IMPG2 | c.2764T>C (p.Leu922=) c.2470T>C (p.Leu824=) c.2353T>C (p.Leu785=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243567A>T | CA353855488 | IMPG2 | c.2764T>A (p.Leu922Met) c.2470T>A (p.Leu824Met) c.2353T>A (p.Leu785Met) | |
3 | g.101243569_101243571del | CA916082587 | IMPG2 | c.2762_2764del (p.Ser921del) c.2468_2470del (p.Ser823del) c.2351_2353del (p.Ser784del) | ClinVar dbSNP |
3 | g.101243568G>A | CA434869583 | IMPG2 | c.2763C>T (p.Ser921=) c.2469C>T (p.Ser823=) c.2352C>T (p.Ser784=) | ClinVar dbSNP gnomAD v4 |
3 | g.101243568G>C | CA434869584 | IMPG2 | c.2763C>G (p.Ser921=) c.2469C>G (p.Ser823=) c.2352C>G (p.Ser784=) | |
3 | g.101243568G>T | CA434869585 | IMPG2 | c.2763C>A (p.Ser921=) c.2469C>A (p.Ser823=) c.2352C>A (p.Ser784=) | |
3 | g.101243569G>A | CA353855491 | IMPG2 | c.2762C>T (p.Ser921Phe) c.2468C>T (p.Ser823Phe) c.2351C>T (p.Ser784Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243569G>C | CA353855492 | IMPG2 | c.2762C>G (p.Ser921Cys) c.2468C>G (p.Ser823Cys) c.2351C>G (p.Ser784Cys) | dbSNP gnomAD v4 |
3 | g.101243569G= | CA1388615834 | IMPG2 | c.2762C= (p.Ser921=) c.2468C= (p.Ser823=) c.2351C= (p.Ser784=) | |
3 | g.101243569G>T | CA353855494 | IMPG2 | c.2762C>A (p.Ser921Tyr) c.2468C>A (p.Ser823Tyr) c.2351C>A (p.Ser784Tyr) | |
3 | g.101243570A= | CA1388615835 | IMPG2 | c.2761T= (p.Ser921=) c.2467T= (p.Ser823=) c.2350T= (p.Ser784=) | |
3 | g.101243570A>C | CA353855497 | IMPG2 | c.2761T>G (p.Ser921Ala) c.2467T>G (p.Ser823Ala) c.2350T>G (p.Ser784Ala) | COSMIC |
3 | g.101243570A>G | CA353855500 | IMPG2 | c.2761T>C (p.Ser921Pro) c.2467T>C (p.Ser823Pro) c.2350T>C (p.Ser784Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243570A>T | CA353855503 | IMPG2 | c.2761T>A (p.Ser921Thr) c.2467T>A (p.Ser823Thr) c.2350T>A (p.Ser784Thr) | |
3 | g.101243571G>A | CA434869586 | IMPG2 | c.2760C>T (p.Asn920=) c.2466C>T (p.Asn822=) c.2349C>T (p.Asn783=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243571G>C | CA2518923 | IMPG2 | c.2760C>G (p.Asn920Lys) c.2466C>G (p.Asn822Lys) c.2349C>G (p.Asn783Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.101243571G= | CA1388615836 | IMPG2 | c.2760C= (p.Asn920=) c.2466C= (p.Asn822=) c.2349C= (p.Asn783=) | |
3 | g.101243571G>T | CA353855517 | IMPG2 | c.2760C>A (p.Asn920Lys) c.2466C>A (p.Asn822Lys) c.2349C>A (p.Asn783Lys) | |
3 | g.101243572T>A | CA353855522 | IMPG2 | c.2759A>T (p.Asn920Ile) c.2465A>T (p.Asn822Ile) c.2348A>T (p.Asn783Ile) | |
3 | g.101243572T>C | CA353855526 | IMPG2 | c.2759A>G (p.Asn920Ser) c.2465A>G (p.Asn822Ser) c.2348A>G (p.Asn783Ser) | |
3 | g.101243572T>G | CA353855520 | IMPG2 | c.2759A>C (p.Asn920Thr) c.2465A>C (p.Asn822Thr) c.2348A>C (p.Asn783Thr) | |
3 | g.101243576dup | CA2666780726 | IMPG2 | c.2759dup (p.Asn920LysfsTer6) c.2465dup (p.Asn822LysfsTer6) c.2348dup (p.Asn783LysfsTer6) | gnomAD v4 |
3 | g.101243573T>A | CA353855534 | IMPG2 | c.2758A>T (p.Asn920Tyr) c.2464A>T (p.Asn822Tyr) c.2347A>T (p.Asn783Tyr) | |
3 | g.101243573T>C | CA353855543 | IMPG2 | c.2758A>G (p.Asn920Asp) c.2464A>G (p.Asn822Asp) c.2347A>G (p.Asn783Asp) | gnomAD v4 |
3 | g.101243573T>G | CA353855545 | IMPG2 | c.2758A>C (p.Asn920His) c.2464A>C (p.Asn822His) c.2347A>C (p.Asn783His) | |
3 | g.101243574T>A | CA353855553 | IMPG2 | c.2757A>T (p.Lys919Asn) c.2463A>T (p.Lys821Asn) c.2346A>T (p.Lys782Asn) | |
3 | g.101243574T>C | CA434869587 | IMPG2 | c.2757A>G (p.Lys919=) c.2463A>G (p.Lys821=) c.2346A>G (p.Lys782=) | |
3 | g.101243574T>G | CA353855554 | IMPG2 | c.2757A>C (p.Lys919Asn) c.2463A>C (p.Lys821Asn) c.2346A>C (p.Lys782Asn) | |
3 | g.101243575T>A | CA353855559 | IMPG2 | c.2756A>T (p.Lys919Ile) c.2462A>T (p.Lys821Ile) c.2345A>T (p.Lys782Ile) | |
3 | g.101243575T>C | CA353855555 | IMPG2 | c.2756A>G (p.Lys919Arg) c.2462A>G (p.Lys821Arg) c.2345A>G (p.Lys782Arg) | |
3 | g.101243575T>G | CA353855556 | IMPG2 | c.2756A>C (p.Lys919Thr) c.2462A>C (p.Lys821Thr) c.2345A>C (p.Lys782Thr) | |
3 | g.101243576T>A | CA353855564 | IMPG2 | c.2755A>T (p.Lys919Ter) c.2461A>T (p.Lys821Ter) c.2344A>T (p.Lys782Ter) | |
3 | g.101243576T>C | CA353855579 | IMPG2 | c.2755A>G (p.Lys919Glu) c.2461A>G (p.Lys821Glu) c.2344A>G (p.Lys782Glu) | |
3 | g.101243576T>G | CA353855582 | IMPG2 | c.2755A>C (p.Lys919Gln) c.2461A>C (p.Lys821Gln) c.2344A>C (p.Lys782Gln) | |
3 | g.101243577A>C | CA353855585 | IMPG2 | c.2754T>G (p.Asn918Lys) c.2460T>G (p.Asn820Lys) c.2343T>G (p.Asn781Lys) | |
3 | g.101243577A>G | CA434869588 | IMPG2 | c.2754T>C (p.Asn918=) c.2460T>C (p.Asn820=) c.2343T>C (p.Asn781=) | |
3 | g.101243577A>T | CA353855587 | IMPG2 | c.2754T>A (p.Asn918Lys) c.2460T>A (p.Asn820Lys) c.2343T>A (p.Asn781Lys) | |
3 | g.101243578T>A | CA353855588 | IMPG2 | c.2753A>T (p.Asn918Ile) c.2459A>T (p.Asn820Ile) c.2342A>T (p.Asn781Ile) | |
3 | g.101243578T>C | CA353855599 | IMPG2 | c.2753A>G (p.Asn918Ser) c.2459A>G (p.Asn820Ser) c.2342A>G (p.Asn781Ser) | |
3 | g.101243578T>G | CA353855595 | IMPG2 | c.2753A>C (p.Asn918Thr) c.2459A>C (p.Asn820Thr) c.2342A>C (p.Asn781Thr) | |
3 | g.101243579T>A | CA353855629 | IMPG2 | c.2752A>T (p.Asn918Tyr) c.2458A>T (p.Asn820Tyr) c.2341A>T (p.Asn781Tyr) | gnomAD v4 |
3 | g.101243579T>C | CA2518924 | IMPG2 | c.2752A>G (p.Asn918Asp) c.2458A>G (p.Asn820Asp) c.2341A>G (p.Asn781Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243579T>G | CA353855634 | IMPG2 | c.2752A>C (p.Asn918His) c.2458A>C (p.Asn820His) c.2341A>C (p.Asn781His) | dbSNP gnomAD v4 |
3 | g.101243579T= | CA1388615837 | IMPG2 | c.2752A= (p.Asn918=) c.2458A= (p.Asn820=) c.2341A= (p.Asn781=) | |
3 | g.101243580A>C | CA353855638 | IMPG2 | c.2751T>G (p.Phe917Leu) c.2457T>G (p.Phe819Leu) c.2340T>G (p.Phe780Leu) | |
3 | g.101243580A>G | CA434869589 | IMPG2 | c.2751T>C (p.Phe917=) c.2457T>C (p.Phe819=) c.2340T>C (p.Phe780=) | |
3 | g.101243580A>T | CA353855640 | IMPG2 | c.2751T>A (p.Phe917Leu) c.2457T>A (p.Phe819Leu) c.2340T>A (p.Phe780Leu) | |
3 | g.101243581A>C | CA353855649 | IMPG2 | c.2750T>G (p.Phe917Cys) c.2456T>G (p.Phe819Cys) c.2339T>G (p.Phe780Cys) | |
3 | g.101243581A>G | CA353855652 | IMPG2 | c.2750T>C (p.Phe917Ser) c.2456T>C (p.Phe819Ser) c.2339T>C (p.Phe780Ser) | |
3 | g.101243581A>T | CA353855659 | IMPG2 | c.2750T>A (p.Phe917Tyr) c.2456T>A (p.Phe819Tyr) c.2339T>A (p.Phe780Tyr) | |
3 | g.101243582A>C | CA353855665 | IMPG2 | c.2749T>G (p.Phe917Val) c.2455T>G (p.Phe819Val) c.2338T>G (p.Phe780Val) | |
3 | g.101243582A>G | CA353855668 | IMPG2 | c.2749T>C (p.Phe917Leu) c.2455T>C (p.Phe819Leu) c.2338T>C (p.Phe780Leu) | |
3 | g.101243582A>T | CA353855673 | IMPG2 | c.2749T>A (p.Phe917Ile) c.2455T>A (p.Phe819Ile) c.2338T>A (p.Phe780Ile) | |
3 | g.101243583C>A | CA434869590 | IMPG2 | c.2748G>T (p.Leu916=) c.2454G>T (p.Leu818=) c.2337G>T (p.Leu779=) | |
3 | g.101243583C>G | CA434869591 | IMPG2 | c.2748G>C (p.Leu916=) c.2454G>C (p.Leu818=) c.2337G>C (p.Leu779=) | |
3 | g.101243583C>T | CA434869592 | IMPG2 | c.2748G>A (p.Leu916=) c.2454G>A (p.Leu818=) c.2337G>A (p.Leu779=) | gnomAD v4 |
3 | g.101243584A>C | CA353855678 | IMPG2 | c.2747T>G (p.Leu916Arg) c.2453T>G (p.Leu818Arg) c.2336T>G (p.Leu779Arg) | |
3 | g.101243584A>G | CA353855690 | IMPG2 | c.2747T>C (p.Leu916Pro) c.2453T>C (p.Leu818Pro) c.2336T>C (p.Leu779Pro) | |
3 | g.101243584A>T | CA353855691 | IMPG2 | c.2747T>A (p.Leu916Gln) c.2453T>A (p.Leu818Gln) c.2336T>A (p.Leu779Gln) | |
3 | g.101243585G>A | CA434869593 | IMPG2 | c.2746C>T (p.Leu916=) c.2452C>T (p.Leu818=) c.2335C>T (p.Leu779=) | |
3 | g.101243585G>C | CA353855695 | IMPG2 | c.2746C>G (p.Leu916Val) c.2452C>G (p.Leu818Val) c.2335C>G (p.Leu779Val) | gnomAD v4 |
3 | g.101243585G= | CA1388615838 | IMPG2 | c.2746C= (p.Leu916=) c.2452C= (p.Leu818=) c.2335C= (p.Leu779=) | |
3 | g.101243585G>T | CA79722036 | IMPG2 | c.2746C>A (p.Leu916Met) c.2452C>A (p.Leu818Met) c.2335C>A (p.Leu779Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243586A>C | CA353855696 | IMPG2 | c.2745T>G (p.Asp915Glu) c.2451T>G (p.Asp817Glu) c.2334T>G (p.Asp778Glu) | |
3 | g.101243586A>G | CA434869594 | IMPG2 | c.2745T>C (p.Asp915=) c.2451T>C (p.Asp817=) c.2334T>C (p.Asp778=) | gnomAD v4 |
3 | g.101243586A>T | CA353855697 | IMPG2 | c.2745T>A (p.Asp915Glu) c.2451T>A (p.Asp817Glu) c.2334T>A (p.Asp778Glu) | |
3 | g.101243587T>A | CA353855699 | IMPG2 | c.2744A>T (p.Asp915Val) c.2450A>T (p.Asp817Val) c.2333A>T (p.Asp778Val) | gnomAD v4 |
3 | g.101243587T>C | CA353855703 | IMPG2 | c.2744A>G (p.Asp915Gly) c.2450A>G (p.Asp817Gly) c.2333A>G (p.Asp778Gly) | dbSNP gnomAD v4 |
3 | g.101243587T>G | CA353855704 | IMPG2 | c.2744A>C (p.Asp915Ala) c.2450A>C (p.Asp817Ala) c.2333A>C (p.Asp778Ala) | |
3 | g.101243587T= | CA1388615839 | IMPG2 | c.2744A= (p.Asp915=) c.2450A= (p.Asp817=) c.2333A= (p.Asp778=) | |
3 | g.101243590_101243592del | CA2577839095 | IMPG2 | c.2742_2744del (p.Glu914del) c.2448_2450del (p.Glu816del) c.2331_2333del (p.Glu777del) | ClinVar |
3 | g.101243588C>A | CA353855708 | IMPG2 | c.2743G>T (p.Asp915Tyr) c.2449G>T (p.Asp817Tyr) c.2332G>T (p.Asp778Tyr) | |
3 | g.101243588C>G | CA353855710 | IMPG2 | c.2743G>C (p.Asp915His) c.2449G>C (p.Asp817His) c.2332G>C (p.Asp778His) | |
3 | g.101243588C>T | CA353855712 | IMPG2 | c.2743G>A (p.Asp915Asn) c.2449G>A (p.Asp817Asn) c.2332G>A (p.Asp778Asn) | |
3 | g.101243589T>A | CA353855716 | IMPG2 | c.2742A>T (p.Glu914Asp) c.2448A>T (p.Glu816Asp) c.2331A>T (p.Glu777Asp) | |
3 | g.101243589T>C | CA434869595 | IMPG2 | c.2742A>G (p.Glu914=) c.2448A>G (p.Glu816=) c.2331A>G (p.Glu777=) | |
3 | g.101243589T>G | CA353855719 | IMPG2 | c.2742A>C (p.Glu914Asp) c.2448A>C (p.Glu816Asp) c.2331A>C (p.Glu777Asp) | |
3 | g.101243590T>A | CA353855724 | IMPG2 | c.2741A>T (p.Glu914Val) c.2447A>T (p.Glu816Val) c.2330A>T (p.Glu777Val) | |
3 | g.101243590T>C | CA353855730 | IMPG2 | c.2741A>G (p.Glu914Gly) c.2447A>G (p.Glu816Gly) c.2330A>G (p.Glu777Gly) | gnomAD v4 |
3 | g.101243590T>G | CA353855732 | IMPG2 | c.2741A>C (p.Glu914Ala) c.2447A>C (p.Glu816Ala) c.2330A>C (p.Glu777Ala) | |
3 | g.101243591C>A | CA353855749 | IMPG2 | c.2740G>T (p.Glu914Ter) c.2446G>T (p.Glu816Ter) c.2329G>T (p.Glu777Ter) | |
3 | g.101243591C>G | CA353855737 | IMPG2 | c.2740G>C (p.Glu914Gln) c.2446G>C (p.Glu816Gln) c.2329G>C (p.Glu777Gln) | |
3 | g.101243591C>T | CA353855735 | IMPG2 | c.2740G>A (p.Glu914Lys) c.2446G>A (p.Glu816Lys) c.2329G>A (p.Glu777Lys) | |
3 | g.101243591_101243592delinsCT | CA1388615840 | IMPG2 | c.2739_2740delinsAG (p.Ser913=) c.2445_2446delinsAG (p.Ser815=) c.2328_2329delinsAG (p.Ser776=) | |
3 | g.101243592del | CA545494269 | IMPG2 | c.2739del (p.Glu914LysfsTer19) c.2445del (p.Glu816LysfsTer19) c.2328del (p.Glu777LysfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243592T>A | CA434869596 | IMPG2 | c.2739A>T (p.Ser913=) c.2445A>T (p.Ser815=) c.2328A>T (p.Ser776=) | gnomAD v4 |
3 | g.101243592T>C | CA434869598 | IMPG2 | c.2739A>G (p.Ser913=) c.2445A>G (p.Ser815=) c.2328A>G (p.Ser776=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.101243592T>G | CA434869597 | IMPG2 | c.2739A>C (p.Ser913=) c.2445A>C (p.Ser815=) c.2328A>C (p.Ser776=) | dbSNP gnomAD v4 |
3 | g.101243592T= | CA1388615841 | IMPG2 | c.2739A= (p.Ser913=) c.2445A= (p.Ser815=) c.2328A= (p.Ser776=) | |
3 | g.101243593G>A | CA353855750 | IMPG2 | c.2738C>T (p.Ser913Leu) c.2444C>T (p.Ser815Leu) c.2327C>T (p.Ser776Leu) | |
3 | g.101243593G>C | CA353855751 | IMPG2 | c.2738C>G (p.Ser913Ter) c.2444C>G (p.Ser815Ter) c.2327C>G (p.Ser776Ter) | |
3 | g.101243593G>T | CA353855752 | IMPG2 | c.2738C>A (p.Ser913Ter) c.2444C>A (p.Ser815Ter) c.2327C>A (p.Ser776Ter) | |
3 | g.101243594A>C | CA353855755 | IMPG2 | c.2737T>G (p.Ser913Ala) c.2443T>G (p.Ser815Ala) c.2326T>G (p.Ser776Ala) | |
3 | g.101243594A>G | CA353855757 | IMPG2 | c.2737T>C (p.Ser913Pro) c.2443T>C (p.Ser815Pro) c.2326T>C (p.Ser776Pro) | |
3 | g.101243594A>T | CA353855758 | IMPG2 | c.2737T>A (p.Ser913Thr) c.2443T>A (p.Ser815Thr) c.2326T>A (p.Ser776Thr) | |
3 | g.101243595A>C | CA353855760 | IMPG2 | c.2736T>G (p.Phe912Leu) c.2442T>G (p.Phe814Leu) c.2325T>G (p.Phe775Leu) | |
3 | g.101243595A>G | CA434869599 | IMPG2 | c.2736T>C (p.Phe912=) c.2442T>C (p.Phe814=) c.2325T>C (p.Phe775=) | |
3 | g.101243595A>T | CA353855759 | IMPG2 | c.2736T>A (p.Phe912Leu) c.2442T>A (p.Phe814Leu) c.2325T>A (p.Phe775Leu) | |
3 | g.101243596A>C | CA353855761 | IMPG2 | c.2735T>G (p.Phe912Cys) c.2441T>G (p.Phe814Cys) c.2324T>G (p.Phe775Cys) | |
3 | g.101243596A>G | CA353855762 | IMPG2 | c.2735T>C (p.Phe912Ser) c.2441T>C (p.Phe814Ser) c.2324T>C (p.Phe775Ser) | |
3 | g.101243596A>T | CA353855763 | IMPG2 | c.2735T>A (p.Phe912Tyr) c.2441T>A (p.Phe814Tyr) c.2324T>A (p.Phe775Tyr) | |
3 | g.101243597A>C | CA353855764 | IMPG2 | c.2734T>G (p.Phe912Val) c.2440T>G (p.Phe814Val) c.2323T>G (p.Phe775Val) | |
3 | g.101243597A>G | CA353855765 | IMPG2 | c.2734T>C (p.Phe912Leu) c.2440T>C (p.Phe814Leu) c.2323T>C (p.Phe775Leu) | |
3 | g.101243597A>T | CA353855766 | IMPG2 | c.2734T>A (p.Phe912Ile) c.2440T>A (p.Phe814Ile) c.2323T>A (p.Phe775Ile) | |
3 | g.101243598C>A | CA353855767 | IMPG2 | c.2733G>T (p.Met911Ile) c.2439G>T (p.Met813Ile) c.2322G>T (p.Met774Ile) | |
3 | g.101243598C>G | CA353855771 | IMPG2 | c.2733G>C (p.Met911Ile) c.2439G>C (p.Met813Ile) c.2322G>C (p.Met774Ile) | |
3 | g.101243598C>T | CA353855768 | IMPG2 | c.2733G>A (p.Met911Ile) c.2439G>A (p.Met813Ile) c.2322G>A (p.Met774Ile) | COSMIC |
3 | g.101243599A>C | CA353855773 | IMPG2 | c.2732T>G (p.Met911Arg) c.2438T>G (p.Met813Arg) c.2321T>G (p.Met774Arg) | |
3 | g.101243599A>G | CA353855778 | IMPG2 | c.2732T>C (p.Met911Thr) c.2438T>C (p.Met813Thr) c.2321T>C (p.Met774Thr) | |
3 | g.101243599A>T | CA353855779 | IMPG2 | c.2732T>A (p.Met911Lys) c.2438T>A (p.Met813Lys) c.2321T>A (p.Met774Lys) | ClinVar gnomAD v4 |
3 | g.101243600T>A | CA353855780 | IMPG2 | c.2731A>T (p.Met911Leu) c.2437A>T (p.Met813Leu) c.2320A>T (p.Met774Leu) | dbSNP |
3 | g.101243600T>C | CA353855781 | IMPG2 | c.2731A>G (p.Met911Val) c.2437A>G (p.Met813Val) c.2320A>G (p.Met774Val) | |
3 | g.101243600T>G | CA353855782 | IMPG2 | c.2731A>C (p.Met911Leu) c.2437A>C (p.Met813Leu) c.2320A>C (p.Met774Leu) | |
3 | g.101243600T= | CA1388615842 | IMPG2 | c.2731A= (p.Met911=) c.2437A= (p.Met813=) c.2320A= (p.Met774=) | |
3 | g.101243600_101243601delinsTC | CA1388615843 | IMPG2 | c.2730_2731delinsGA (p.Met910=) c.2436_2437delinsGA (p.Met812=) c.2319_2320delinsGA (p.Met773=) | |
3 | g.101243601del | CA79722048 | IMPG2 | c.2730del (p.Met910IlefsTer23) c.2436del (p.Met812IlefsTer23) c.2319del (p.Met773IlefsTer23) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243601C>A | CA353855784 | IMPG2 | c.2730G>T (p.Met910Ile) c.2436G>T (p.Met812Ile) c.2319G>T (p.Met773Ile) | dbSNP gnomAD v4 |
3 | g.101243601C= | CA1388615844 | IMPG2 | c.2730G= (p.Met910=) c.2436G= (p.Met812=) c.2319G= (p.Met773=) | |
3 | g.101243601C>G | CA353855787 | IMPG2 | c.2730G>C (p.Met910Ile) c.2436G>C (p.Met812Ile) c.2319G>C (p.Met773Ile) | |
3 | g.101243601C>T | CA353855790 | IMPG2 | c.2730G>A (p.Met910Ile) c.2436G>A (p.Met812Ile) c.2319G>A (p.Met773Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243602A>C | CA353855805 | IMPG2 | c.2729T>G (p.Met910Arg) c.2435T>G (p.Met812Arg) c.2318T>G (p.Met773Arg) | |
3 | g.101243602A>G | CA353855803 | IMPG2 | c.2729T>C (p.Met910Thr) c.2435T>C (p.Met812Thr) c.2318T>C (p.Met773Thr) | |
3 | g.101243602A>T | CA353855800 | IMPG2 | c.2729T>A (p.Met910Lys) c.2435T>A (p.Met812Lys) c.2318T>A (p.Met773Lys) | |
3 | g.101243603T>A | CA353855809 | IMPG2 | c.2728A>T (p.Met910Leu) c.2434A>T (p.Met812Leu) c.2317A>T (p.Met773Leu) | |
3 | g.101243603T>C | CA353855815 | IMPG2 | c.2728A>G (p.Met910Val) c.2434A>G (p.Met812Val) c.2317A>G (p.Met773Val) | dbSNP gnomAD v4 |
3 | g.101243603T>G | CA353855813 | IMPG2 | c.2728A>C (p.Met910Leu) c.2434A>C (p.Met812Leu) c.2317A>C (p.Met773Leu) | dbSNP |
3 | g.101243603T= | CA1388615845 | IMPG2 | c.2728A= (p.Met910=) c.2434A= (p.Met812=) c.2317A= (p.Met773=) | |
3 | g.101243604G>A | CA434869600 | IMPG2 | c.2727C>T (p.Asn909=) c.2433C>T (p.Asn811=) c.2316C>T (p.Asn772=) | gnomAD v4 |
3 | g.101243604G>C | CA353855819 | IMPG2 | c.2727C>G (p.Asn909Lys) c.2433C>G (p.Asn811Lys) c.2316C>G (p.Asn772Lys) | ClinVar dbSNP |
3 | g.101243604G>T | CA353855821 | IMPG2 | c.2727C>A (p.Asn909Lys) c.2433C>A (p.Asn811Lys) c.2316C>A (p.Asn772Lys) | |
3 | g.101243606_101243609del | CA2666780732 | IMPG2 | c.2724_2727del (p.Asn909Ter) c.2430_2433del (p.Asn811Ter) c.2313_2316del (p.Asn772Ter) | gnomAD v4 |
3 | g.101243605T>A | CA353855824 | IMPG2 | c.2726A>T (p.Asn909Ile) c.2432A>T (p.Asn811Ile) c.2315A>T (p.Asn772Ile) | |
3 | g.101243605T>C | CA353855825 | IMPG2 | c.2726A>G (p.Asn909Ser) c.2432A>G (p.Asn811Ser) c.2315A>G (p.Asn772Ser) | COSMIC |
3 | g.101243605T>G | CA353855828 | IMPG2 | c.2726A>C (p.Asn909Thr) c.2432A>C (p.Asn811Thr) c.2315A>C (p.Asn772Thr) | |
3 | g.101243606T>A | CA353855830 | IMPG2 | c.2725A>T (p.Asn909Tyr) c.2431A>T (p.Asn811Tyr) c.2314A>T (p.Asn772Tyr) | |
3 | g.101243606T>C | CA353855832 | IMPG2 | c.2725A>G (p.Asn909Asp) c.2431A>G (p.Asn811Asp) c.2314A>G (p.Asn772Asp) | |
3 | g.101243606T>G | CA353855835 | IMPG2 | c.2725A>C (p.Asn909His) c.2431A>C (p.Asn811His) c.2314A>C (p.Asn772His) | |
3 | g.101243607A>C | CA434869603 | IMPG2 | c.2724T>G (p.Thr908=) c.2430T>G (p.Thr810=) c.2313T>G (p.Thr771=) | |
3 | g.101243607A>G | CA434869602 | IMPG2 | c.2724T>C (p.Thr908=) c.2430T>C (p.Thr810=) c.2313T>C (p.Thr771=) | |
3 | g.101243607A>T | CA434869601 | IMPG2 | c.2724T>A (p.Thr908=) c.2430T>A (p.Thr810=) c.2313T>A (p.Thr771=) | |
3 | g.101243608G>A | CA2518925 | IMPG2 | c.2723C>T (p.Thr908Ile) c.2429C>T (p.Thr810Ile) c.2312C>T (p.Thr771Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243608G>C | CA353855844 | IMPG2 | c.2723C>G (p.Thr908Ser) c.2429C>G (p.Thr810Ser) c.2312C>G (p.Thr771Ser) | |
3 | g.101243608G= | CA1388615846 | IMPG2 | c.2723C= (p.Thr908=) c.2429C= (p.Thr810=) c.2312C= (p.Thr771=) | |
3 | g.101243608G>T | CA353855849 | IMPG2 | c.2723C>A (p.Thr908Asn) c.2429C>A (p.Thr810Asn) c.2312C>A (p.Thr771Asn) | |
3 | g.101243609T>A | CA353855856 | IMPG2 | c.2722A>T (p.Thr908Ser) c.2428A>T (p.Thr810Ser) c.2311A>T (p.Thr771Ser) | |
3 | g.101243609T>C | CA353855855 | IMPG2 | c.2722A>G (p.Thr908Ala) c.2428A>G (p.Thr810Ala) c.2311A>G (p.Thr771Ala) | |
3 | g.101243609T>G | CA353855852 | IMPG2 | c.2722A>C (p.Thr908Pro) c.2428A>C (p.Thr810Pro) c.2311A>C (p.Thr771Pro) | |
3 | g.101243610C>A | CA2518926 | IMPG2 | c.2721G>T (p.Val907=) c.2427G>T (p.Val809=) c.2310G>T (p.Val770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.101243610C= | CA1388615847 | IMPG2 | c.2721G= (p.Val907=) c.2427G= (p.Val809=) c.2310G= (p.Val770=) | |
3 | g.101243610C>G | CA434869604 | IMPG2 | c.2721G>C (p.Val907=) c.2427G>C (p.Val809=) c.2310G>C (p.Val770=) | |
3 | g.101243610C>T | CA79722110 | IMPG2 | c.2721G>A (p.Val907=) c.2427G>A (p.Val809=) c.2310G>A (p.Val770=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243611A>C | CA353855860 | IMPG2 | c.2720T>G (p.Val907Gly) c.2426T>G (p.Val809Gly) c.2309T>G (p.Val770Gly) | |
3 | g.101243611A>G | CA353855863 | IMPG2 | c.2720T>C (p.Val907Ala) c.2426T>C (p.Val809Ala) c.2309T>C (p.Val770Ala) | |
3 | g.101243611A>T | CA353855865 | IMPG2 | c.2720T>A (p.Val907Glu) c.2426T>A (p.Val809Glu) c.2309T>A (p.Val770Glu) | |
3 | g.101243612C>A | CA353855867 | IMPG2 | c.2719G>T (p.Val907Leu) c.2425G>T (p.Val809Leu) c.2308G>T (p.Val770Leu) | |
3 | g.101243612C= | CA1388615848 | IMPG2 | c.2719G= (p.Val907=) c.2425G= (p.Val809=) c.2308G= (p.Val770=) | |
3 | g.101243612C>G | CA353855869 | IMPG2 | c.2719G>C (p.Val907Leu) c.2425G>C (p.Val809Leu) c.2308G>C (p.Val770Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243612C>T | CA2518927 | IMPG2 | c.2719G>A (p.Val907Met) c.2425G>A (p.Val809Met) c.2308G>A (p.Val770Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.101243613T>A | CA434869605 | IMPG2 | c.2718A>T (p.Arg906=) c.2424A>T (p.Arg808=) c.2307A>T (p.Arg769=) | |
3 | g.101243613T>C | CA434869606 | IMPG2 | c.2718A>G (p.Arg906=) c.2424A>G (p.Arg808=) c.2307A>G (p.Arg769=) | |
3 | g.101243613T>G | CA434869607 | IMPG2 | c.2718A>C (p.Arg906=) c.2424A>C (p.Arg808=) c.2307A>C (p.Arg769=) | |
3 | g.101243614C>A | CA353855873 | IMPG2 | c.2717G>T (p.Arg906Leu) c.2423G>T (p.Arg808Leu) c.2306G>T (p.Arg769Leu) | |
3 | g.101243614C= | CA1388615849 | IMPG2 | c.2717G= (p.Arg906=) c.2423G= (p.Arg808=) c.2306G= (p.Arg769=) | |
3 | g.101243614C>G | CA353855875 | IMPG2 | c.2717G>C (p.Arg906Pro) c.2423G>C (p.Arg808Pro) c.2306G>C (p.Arg769Pro) | |
3 | g.101243614C>T | CA353855876 | IMPG2 | c.2717G>A (p.Arg906Gln) c.2423G>A (p.Arg808Gln) c.2306G>A (p.Arg769Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.101243615G>A | CA252813 | IMPG2 | c.2716C>T (p.Arg906Ter) c.2422C>T (p.Arg808Ter) c.2305C>T (p.Arg769Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.101243615G>C | CA353855880 | IMPG2 | c.2716C>G (p.Arg906Gly) c.2422C>G (p.Arg808Gly) c.2305C>G (p.Arg769Gly) | |
3 | g.101243615G= | CA1388615850 | IMPG2 | c.2716C= (p.Arg906=) c.2422C= (p.Arg808=) c.2305C= (p.Arg769=) | |
3 | g.101243615G>T | CA434869608 | IMPG2 | c.2716C>A (p.Arg906=) c.2422C>A (p.Arg808=) c.2305C>A (p.Arg769=) | |
3 | g.101243616G>A | CA434869609 | IMPG2 | c.2715C>T (p.Leu905=) c.2421C>T (p.Leu807=) c.2304C>T (p.Leu768=) | dbSNP |
3 | g.101243616G>C | CA434869610 | IMPG2 | c.2715C>G (p.Leu905=) c.2421C>G (p.Leu807=) c.2304C>G (p.Leu768=) | |
3 | g.101243616G>T | CA434869611 | IMPG2 | c.2715C>A (p.Leu905=) c.2421C>A (p.Leu807=) c.2304C>A (p.Leu768=) | |
3 | g.101243617A>C | CA353855894 | IMPG2 | c.2714T>G (p.Leu905Arg) c.2420T>G (p.Leu807Arg) c.2303T>G (p.Leu768Arg) | |
3 | g.101243617A>G | CA353855891 | IMPG2 | c.2714T>C (p.Leu905Pro) c.2420T>C (p.Leu807Pro) c.2303T>C (p.Leu768Pro) | |
3 | g.101243617A>T | CA353855885 | IMPG2 | c.2714T>A (p.Leu905His) c.2420T>A (p.Leu807His) c.2303T>A (p.Leu768His) | |
3 | g.101243618G>A | CA353855902 | IMPG2 | c.2713C>T (p.Leu905Phe) c.2419C>T (p.Leu807Phe) c.2302C>T (p.Leu768Phe) | |
3 | g.101243618G>C | CA353855897 | IMPG2 | c.2713C>G (p.Leu905Val) c.2419C>G (p.Leu807Val) c.2302C>G (p.Leu768Val) | |
3 | g.101243618G>T | CA353855900 | IMPG2 | c.2713C>A (p.Leu905Ile) c.2419C>A (p.Leu807Ile) c.2302C>A (p.Leu768Ile) | |
3 | g.101243619G>A | CA434869612 | IMPG2 | c.2712C>T (p.Ser904=) c.2418C>T (p.Ser806=) c.2301C>T (p.Ser767=) | |
3 | g.101243619G>C | CA353855905 | IMPG2 | c.2712C>G (p.Ser904Arg) c.2418C>G (p.Ser806Arg) c.2301C>G (p.Ser767Arg) | |
3 | g.101243619G>T | CA353855907 | IMPG2 | c.2712C>A (p.Ser904Arg) c.2418C>A (p.Ser806Arg) c.2301C>A (p.Ser767Arg) | |
3 | g.101243620C>A | CA353855911 | IMPG2 | c.2711G>T (p.Ser904Ile) c.2417G>T (p.Ser806Ile) c.2300G>T (p.Ser767Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.101243620C= | CA1388615851 | IMPG2 | c.2711G= (p.Ser904=) c.2417G= (p.Ser806=) c.2300G= (p.Ser767=) | |
3 | g.101243620C>G | CA353855914 | IMPG2 | c.2711G>C (p.Ser904Thr) c.2417G>C (p.Ser806Thr) c.2300G>C (p.Ser767Thr) | |
3 | g.101243620C>T | CA353855915 | IMPG2 | c.2711G>A (p.Ser904Asn) c.2417G>A (p.Ser806Asn) c.2300G>A (p.Ser767Asn) | gnomAD v4 |