Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27232103C>A | CA346211552 | CAD | c.2524C>A (p.Arg842Ser) c.2335C>A (p.Arg779Ser) n.272C>A c.250C>A (p.Arg84Ser) | |
2 | g.27232103C= | CA1240180292 | CAD | c.2524C= (p.Arg842=) c.2335C= (p.Arg779=) n.272C= c.250C= (p.Arg84=) | |
2 | g.27232103C>G | CA346211554 | CAD | c.2524C>G (p.Arg842Gly) c.2335C>G (p.Arg779Gly) n.272C>G c.250C>G (p.Arg84Gly) | gnomAD v4 |
2 | g.27232103C>T | CA346211555 | CAD | c.2524C>T (p.Arg842Cys) c.2335C>T (p.Arg779Cys) n.272C>T c.250C>T (p.Arg84Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.27232104G>A | CA1573039 | CAD | c.2525G>A (p.Arg842His) c.2336G>A (p.Arg779His) n.273G>A c.251G>A (p.Arg84His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232104G>C | CA346211557 | CAD | c.2525G>C (p.Arg842Pro) c.2336G>C (p.Arg779Pro) n.273G>C c.251G>C (p.Arg84Pro) | |
2 | g.27232104G= | CA1240180293 | CAD | c.2525G= (p.Arg842=) c.2336G= (p.Arg779=) n.273G= c.251G= (p.Arg84=) | |
2 | g.27232104G>T | CA346211558 | CAD | c.2525G>T (p.Arg842Leu) c.2336G>T (p.Arg779Leu) n.273G>T c.251G>T (p.Arg84Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232105T>A | CA425384865 | CAD | c.2526T>A (p.Arg842=) c.2337T>A (p.Arg779=) n.274T>A c.252T>A (p.Arg84=) | |
2 | g.27232105T>C | CA425384866 | CAD | c.2526T>C (p.Arg842=) c.2337T>C (p.Arg779=) n.274T>C c.252T>C (p.Arg84=) | |
2 | g.27232105T>G | CA425384867 | CAD | c.2526T>G (p.Arg842=) c.2337T>G (p.Arg779=) n.274T>G c.252T>G (p.Arg84=) | |
2 | g.27232106A>C | CA346211559 | CAD | c.2527A>C (p.Ile843Leu) c.2338A>C (p.Ile780Leu) n.275A>C c.253A>C (p.Ile85Leu) | |
2 | g.27232106A>G | CA346211561 | CAD | c.2527A>G (p.Ile843Val) c.2338A>G (p.Ile780Val) n.275A>G c.253A>G (p.Ile85Val) | |
2 | g.27232106A>T | CA346211562 | CAD | c.2527A>T (p.Ile843Phe) c.2338A>T (p.Ile780Phe) n.275A>T c.253A>T (p.Ile85Phe) | |
2 | g.27232107T>A | CA346211564 | CAD | c.2528T>A (p.Ile843Asn) c.2339T>A (p.Ile780Asn) n.276T>A c.254T>A (p.Ile85Asn) | |
2 | g.27232107T>C | CA346211565 | CAD | c.2528T>C (p.Ile843Thr) c.2339T>C (p.Ile780Thr) n.276T>C c.254T>C (p.Ile85Thr) | |
2 | g.27232107T>G | CA346211567 | CAD | c.2528T>G (p.Ile843Ser) c.2339T>G (p.Ile780Ser) n.276T>G c.254T>G (p.Ile85Ser) | |
2 | g.27232108C>A | CA425384868 | CAD | c.2529C>A (p.Ile843=) c.2340C>A (p.Ile780=) n.277C>A c.255C>A (p.Ile85=) | |
2 | g.27232108C= | CA1240180294 | CAD | c.2529C= (p.Ile843=) c.2340C= (p.Ile780=) n.277C= c.255C= (p.Ile85=) | |
2 | g.27232108C>G | CA346211569 | CAD | c.2529C>G (p.Ile843Met) c.2340C>G (p.Ile780Met) n.277C>G c.255C>G (p.Ile85Met) | |
2 | g.27232108C>T | CA425384869 | CAD | c.2529C>T (p.Ile843=) c.2340C>T (p.Ile780=) n.277C>T c.255C>T (p.Ile85=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232109A= | CA1240180295 | CAD | c.2530A= (p.Ile844=) c.2341A= (p.Ile781=) n.278A= c.256A= (p.Ile86=) | |
2 | g.27232109A>C | CA346211572 | CAD | c.2530A>C (p.Ile844Leu) c.2341A>C (p.Ile781Leu) n.278A>C c.256A>C (p.Ile86Leu) | |
2 | g.27232109A>G | CA346211574 | CAD | c.2530A>G (p.Ile844Val) c.2341A>G (p.Ile781Val) n.278A>G c.256A>G (p.Ile86Val) | ClinVar dbSNP gnomAD v4 |
2 | g.27232109A>T | CA346211570 | CAD | c.2530A>T (p.Ile844Phe) c.2341A>T (p.Ile781Phe) n.278A>T c.256A>T (p.Ile86Phe) | |
2 | g.27232110T>A | CA1573040 | CAD | c.2531T>A (p.Ile844Asn) c.2342T>A (p.Ile781Asn) n.279T>A c.257T>A (p.Ile86Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232110T>C | CA346211575 | CAD | c.2531T>C (p.Ile844Thr) c.2342T>C (p.Ile781Thr) n.279T>C c.257T>C (p.Ile86Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232110T>G | CA346211576 | CAD | c.2531T>G (p.Ile844Ser) c.2342T>G (p.Ile781Ser) n.279T>G c.257T>G (p.Ile86Ser) | |
2 | g.27232110T= | CA1240180296 | CAD | c.2531T= (p.Ile844=) c.2342T= (p.Ile781=) n.279T= c.257T= (p.Ile86=) | |
2 | g.27232111C>A | CA425384870 | CAD | c.2532C>A (p.Ile844=) c.2343C>A (p.Ile781=) n.280C>A c.258C>A (p.Ile86=) | |
2 | g.27232111C= | CA1240180297 | CAD | c.2532C= (p.Ile844=) c.2343C= (p.Ile781=) n.280C= c.258C= (p.Ile86=) | |
2 | g.27232111C>G | CA346211577 | CAD | c.2532C>G (p.Ile844Met) c.2343C>G (p.Ile781Met) n.280C>G c.258C>G (p.Ile86Met) | |
2 | g.27232111C>T | CA1573041 | CAD | c.2532C>T (p.Ile844=) c.2343C>T (p.Ile781=) n.280C>T c.258C>T (p.Ile86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232112G>A | CA1573042 | CAD | c.2533G>A (p.Ala845Thr) c.2344G>A (p.Ala782Thr) n.281G>A c.259G>A (p.Ala87Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232112G>C | CA1573043 | CAD | c.2533G>C (p.Ala845Pro) c.2344G>C (p.Ala782Pro) n.281G>C c.259G>C (p.Ala87Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232112G= | CA1240180298 | CAD | c.2533G= (p.Ala845=) c.2344G= (p.Ala782=) n.281G= c.259G= (p.Ala87=) | |
2 | g.27232112G>T | CA346211579 | CAD | c.2533G>T (p.Ala845Ser) c.2344G>T (p.Ala782Ser) n.281G>T c.259G>T (p.Ala87Ser) | |
2 | g.27232113C>A | CA346211583 | CAD | c.2534C>A (p.Ala845Glu) c.2345C>A (p.Ala782Glu) n.282C>A c.260C>A (p.Ala87Glu) | |
2 | g.27232113C>G | CA346211584 | CAD | c.2534C>G (p.Ala845Gly) c.2345C>G (p.Ala782Gly) n.282C>G c.260C>G (p.Ala87Gly) | gnomAD v4 |
2 | g.27232113C>T | CA346211585 | CAD | c.2534C>T (p.Ala845Val) c.2345C>T (p.Ala782Val) n.282C>T c.260C>T (p.Ala87Val) | |
2 | g.27232114A>C | CA425384871 | CAD | c.2535A>C (p.Ala845=) c.2346A>C (p.Ala782=) n.283A>C c.261A>C (p.Ala87=) | gnomAD v4 |
2 | g.27232114A>G | CA425384872 | CAD | c.2535A>G (p.Ala845=) c.2346A>G (p.Ala782=) n.283A>G c.261A>G (p.Ala87=) | gnomAD v4 |
2 | g.27232114A>T | CA425384873 | CAD | c.2535A>T (p.Ala845=) c.2346A>T (p.Ala782=) n.283A>T c.261A>T (p.Ala87=) | |
2 | g.27232115C>A | CA346211586 | CAD | c.2536C>A (p.His846Asn) c.2347C>A (p.His783Asn) n.284C>A c.262C>A (p.His88Asn) | |
2 | g.27232115C= | CA1240180299 | CAD | c.2536C= (p.His846=) c.2347C= (p.His783=) n.284C= c.262C= (p.His88=) | |
2 | g.27232115C>G | CA346211587 | CAD | c.2536C>G (p.His846Asp) c.2347C>G (p.His783Asp) n.284C>G c.262C>G (p.His88Asp) | |
2 | g.27232115C>T | CA44507191 | CAD | c.2536C>T (p.His846Tyr) c.2347C>T (p.His783Tyr) n.284C>T c.262C>T (p.His88Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232116A= | CA1240180300 | CAD | c.2537A= (p.His846=) c.2348A= (p.His783=) n.285A= c.263A= (p.His88=) | |
2 | g.27232116A>C | CA346211591 | CAD | c.2537A>C (p.His846Pro) c.2348A>C (p.His783Pro) n.285A>C c.263A>C (p.His88Pro) | |
2 | g.27232116A>G | CA44507193 | CAD | c.2537A>G (p.His846Arg) c.2348A>G (p.His783Arg) n.285A>G c.263A>G (p.His88Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232116A>T | CA346211590 | CAD | c.2537A>T (p.His846Leu) c.2348A>T (p.His783Leu) n.285A>T c.263A>T (p.His88Leu) | |
2 | g.27232117T>A | CA346211593 | CAD | c.2538T>A (p.His846Gln) c.2349T>A (p.His783Gln) n.286T>A c.264T>A (p.His88Gln) | |
2 | g.27232117T>C | CA1573044 | CAD | c.2538T>C (p.His846=) c.2349T>C (p.His783=) n.286T>C c.264T>C (p.His88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232117T>G | CA346211595 | CAD | c.2538T>G (p.His846Gln) c.2349T>G (p.His783Gln) n.286T>G c.264T>G (p.His88Gln) | |
2 | g.27232117T= | CA1240180301 | CAD | c.2538T= (p.His846=) c.2349T= (p.His783=) n.286T= c.264T= (p.His88=) | |
2 | g.27232118G>A | CA346211597 | CAD | c.2539G>A (p.Ala847Thr) c.2350G>A (p.Ala784Thr) n.287G>A c.265G>A (p.Ala89Thr) | |
2 | g.27232118G>C | CA346211599 | CAD | c.2539G>C (p.Ala847Pro) c.2350G>C (p.Ala784Pro) n.287G>C c.265G>C (p.Ala89Pro) | |
2 | g.27232118G>T | CA346211600 | CAD | c.2539G>T (p.Ala847Ser) c.2350G>T (p.Ala784Ser) n.287G>T c.265G>T (p.Ala89Ser) | |
2 | g.27232119C>A | CA346211602 | CAD | c.2540C>A (p.Ala847Asp) c.2351C>A (p.Ala784Asp) n.288C>A c.266C>A (p.Ala89Asp) | |
2 | g.27232119C>G | CA346211603 | CAD | c.2540C>G (p.Ala847Gly) c.2351C>G (p.Ala784Gly) n.288C>G c.266C>G (p.Ala89Gly) | |
2 | g.27232119C>T | CA346211605 | CAD | c.2540C>T (p.Ala847Val) c.2351C>T (p.Ala784Val) n.288C>T c.266C>T (p.Ala89Val) | |
2 | g.27232120C>A | CA425384874 | CAD | c.2541C>A (p.Ala847=) c.2352C>A (p.Ala784=) n.289C>A c.267C>A (p.Ala89=) | |
2 | g.27232120C>G | CA425384875 | CAD | c.2541C>G (p.Ala847=) c.2352C>G (p.Ala784=) n.289C>G c.267C>G (p.Ala89=) | |
2 | g.27232120C>T | CA425384876 | CAD | c.2541C>T (p.Ala847=) c.2352C>T (p.Ala784=) n.289C>T c.267C>T (p.Ala89=) | |
2 | g.27232121C>A | CA346211607 | CAD | c.2542C>A (p.Gln848Lys) c.2353C>A (p.Gln785Lys) n.290C>A c.268C>A (p.Gln90Lys) | |
2 | g.27232121C>G | CA346211608 | CAD | c.2542C>G (p.Gln848Glu) c.2353C>G (p.Gln785Glu) n.290C>G c.268C>G (p.Gln90Glu) | |
2 | g.27232121C>T | CA346211609 | CAD | c.2542C>T (p.Gln848Ter) c.2353C>T (p.Gln785Ter) n.290C>T c.268C>T (p.Gln90Ter) | |
2 | g.27232122A>C | CA346211610 | CAD | c.2543A>C (p.Gln848Pro) c.2354A>C (p.Gln785Pro) n.291A>C c.269A>C (p.Gln90Pro) | |
2 | g.27232122A>G | CA346211613 | CAD | c.2543A>G (p.Gln848Arg) c.2354A>G (p.Gln785Arg) n.291A>G c.269A>G (p.Gln90Arg) | |
2 | g.27232122A>T | CA346211611 | CAD | c.2543A>T (p.Gln848Leu) c.2354A>T (p.Gln785Leu) n.291A>T c.269A>T (p.Gln90Leu) | |
2 | g.27232123G>A | CA425384877 | CAD | c.2544G>A (p.Gln848=) c.2355G>A (p.Gln785=) n.292G>A c.270G>A (p.Gln90=) | |
2 | g.27232123G>C | CA346211617 | CAD | c.2544G>C (p.Gln848His) c.2355G>C (p.Gln785His) n.292G>C c.270G>C (p.Gln90His) | |
2 | g.27232123G>T | CA346211620 | CAD | c.2544G>T (p.Gln848His) c.2355G>T (p.Gln785His) n.292G>T c.270G>T (p.Gln90His) | |
2 | g.27232124C>A | CA346211623 | CAD | c.2545C>A (p.Leu849Met) c.2356C>A (p.Leu786Met) n.293C>A c.271C>A (p.Leu91Met) | |
2 | g.27232124C>G | CA346211625 | CAD | c.2545C>G (p.Leu849Val) c.2356C>G (p.Leu786Val) n.293C>G c.271C>G (p.Leu91Val) | |
2 | g.27232124C>T | CA425384878 | CAD | c.2545C>T (p.Leu849=) c.2356C>T (p.Leu786=) n.293C>T c.271C>T (p.Leu91=) | |
2 | g.27232125T>A | CA346211629 | CAD | c.2546T>A (p.Leu849Gln) c.2357T>A (p.Leu786Gln) n.294T>A c.272T>A (p.Leu91Gln) | |
2 | g.27232125T>C | CA346211631 | CAD | c.2546T>C (p.Leu849Pro) c.2357T>C (p.Leu786Pro) n.294T>C c.272T>C (p.Leu91Pro) | |
2 | g.27232125T>G | CA346211634 | CAD | c.2546T>G (p.Leu849Arg) c.2357T>G (p.Leu786Arg) n.294T>G c.272T>G (p.Leu91Arg) | |
2 | g.27232126G>A | CA425384881 | CAD | c.2547G>A (p.Leu849=) c.2358G>A (p.Leu786=) n.295G>A c.273G>A (p.Leu91=) | gnomAD v4 |
2 | g.27232126G>C | CA425384879 | CAD | c.2547G>C (p.Leu849=) c.2358G>C (p.Leu786=) n.295G>C c.273G>C (p.Leu91=) | |
2 | g.27232126G>T | CA425384880 | CAD | c.2547G>T (p.Leu849=) c.2358G>T (p.Leu786=) n.295G>T c.273G>T (p.Leu91=) | |
2 | g.27232127C>A | CA346211638 | CAD | c.2548C>A (p.Leu850Ile) c.2359C>A (p.Leu787Ile) n.296C>A c.274C>A (p.Leu92Ile) | |
2 | g.27232127C>G | CA346211641 | CAD | c.2548C>G (p.Leu850Val) c.2359C>G (p.Leu787Val) n.296C>G c.274C>G (p.Leu92Val) | |
2 | g.27232127C>T | CA425384882 | CAD | c.2548C>T (p.Leu850=) c.2359C>T (p.Leu787=) n.296C>T c.274C>T (p.Leu92=) | |
2 | g.27232128T>A | CA346211644 | CAD | c.2549T>A (p.Leu850Gln) c.2360T>A (p.Leu787Gln) n.297T>A c.275T>A (p.Leu92Gln) | |
2 | g.27232128T>C | CA346211646 | CAD | c.2549T>C (p.Leu850Pro) c.2360T>C (p.Leu787Pro) n.297T>C c.275T>C (p.Leu92Pro) | |
2 | g.27232128T>G | CA346211648 | CAD | c.2549T>G (p.Leu850Arg) c.2360T>G (p.Leu787Arg) n.297T>G c.275T>G (p.Leu92Arg) | |
2 | g.27232129A= | CA1240180302 | CAD | c.2550A= (p.Leu850=) c.2361A= (p.Leu787=) n.298A= c.276A= (p.Leu92=) | |
2 | g.27232129A>C | CA425384883 | CAD | c.2550A>C (p.Leu850=) c.2361A>C (p.Leu787=) n.298A>C c.276A>C (p.Leu92=) | |
2 | g.27232129A>G | CA1573045 | CAD | c.2550A>G (p.Leu850=) c.2361A>G (p.Leu787=) n.298A>G c.276A>G (p.Leu92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232129A>T | CA425384884 | CAD | c.2550A>T (p.Leu850=) c.2361A>T (p.Leu787=) n.298A>T c.276A>T (p.Leu92=) | |
2 | g.27232130G>A | CA346211653 | CAD | c.2551G>A (p.Glu851Lys) c.2362G>A (p.Glu788Lys) n.299G>A c.277G>A (p.Glu93Lys) | |
2 | g.27232130G>C | CA346211660 | CAD | c.2551G>C (p.Glu851Gln) c.2362G>C (p.Glu788Gln) n.299G>C c.277G>C (p.Glu93Gln) | |
2 | g.27232130G>T | CA346211656 | CAD | c.2551G>T (p.Glu851Ter) c.2362G>T (p.Glu788Ter) n.299G>T c.277G>T (p.Glu93Ter) | |
2 | g.27232131A>C | CA346211662 | CAD | c.2552A>C (p.Glu851Ala) c.2363A>C (p.Glu788Ala) n.300A>C c.278A>C (p.Glu93Ala) | |
2 | g.27232131A>G | CA346211664 | CAD | c.2552A>G (p.Glu851Gly) c.2363A>G (p.Glu788Gly) n.300A>G c.278A>G (p.Glu93Gly) | |
2 | g.27232131A>T | CA346211667 | CAD | c.2552A>T (p.Glu851Val) c.2363A>T (p.Glu788Val) n.300A>T c.278A>T (p.Glu93Val) | |
2 | g.27232132A>C | CA346211668 | CAD | c.2553A>C (p.Glu851Asp) c.2364A>C (p.Glu788Asp) n.301A>C c.279A>C (p.Glu93Asp) | |
2 | g.27232132A>G | CA425598678 | CAD | c.2553A>G (p.Glu851=) c.2364A>G (p.Glu788=) n.301A>G c.279A>G (p.Glu93=) | |
2 | g.27232132A>T | CA346211670 | CAD | c.2553A>T (p.Glu851Asp) c.2364A>T (p.Glu788Asp) n.301A>T c.279A>T (p.Glu93Asp) | |
2 | g.27232133C>A | CA346211679 | CAD | c.2554C>A (p.Gln852Lys) c.2365C>A (p.Gln789Lys) n.302C>A c.280C>A (p.Gln94Lys) | |
2 | g.27232133C>G | CA346211680 | CAD | c.2554C>G (p.Gln852Glu) c.2365C>G (p.Gln789Glu) n.302C>G c.280C>G (p.Gln94Glu) | |
2 | g.27232133C>T | CA346211682 | CAD | c.2554C>T (p.Gln852Ter) c.2365C>T (p.Gln789Ter) n.302C>T c.280C>T (p.Gln94Ter) | |
2 | g.27232134A>C | CA346211685 | CAD | c.2555A>C (p.Gln852Pro) c.2366A>C (p.Gln789Pro) n.303A>C c.281A>C (p.Gln94Pro) | |
2 | g.27232134A>G | CA346211687 | CAD | c.2555A>G (p.Gln852Arg) c.2366A>G (p.Gln789Arg) n.303A>G c.281A>G (p.Gln94Arg) | gnomAD v4 |
2 | g.27232134A>T | CA346211688 | CAD | c.2555A>T (p.Gln852Leu) c.2366A>T (p.Gln789Leu) n.303A>T c.281A>T (p.Gln94Leu) | |
2 | g.27232135A>C | CA346211691 | CAD | c.2556A>C (p.Gln852His) c.2367A>C (p.Gln789His) n.304A>C c.282A>C (p.Gln94His) | |
2 | g.27232135A>G | CA425598679 | CAD | c.2556A>G (p.Gln852=) c.2367A>G (p.Gln789=) n.304A>G c.282A>G (p.Gln94=) | |
2 | g.27232135A>T | CA346211693 | CAD | c.2556A>T (p.Gln852His) c.2367A>T (p.Gln789His) n.304A>T c.282A>T (p.Gln94His) | |
2 | g.27232136C>A | CA346211696 | CAD | c.2557C>A (p.His853Asn) c.2368C>A (p.His790Asn) n.305C>A c.283C>A (p.His95Asn) | |
2 | g.27232136C>G | CA346211701 | CAD | c.2557C>G (p.His853Asp) c.2368C>G (p.His790Asp) n.305C>G c.283C>G (p.His95Asp) | |
2 | g.27232136C>T | CA346211698 | CAD | c.2557C>T (p.His853Tyr) c.2368C>T (p.His790Tyr) n.305C>T c.283C>T (p.His95Tyr) | gnomAD v4 |
2 | g.27232137A= | CA1240180303 | CAD | c.2558A= (p.His853=) c.2369A= (p.His790=) n.306A= c.284A= (p.His95=) | |
2 | g.27232137A>C | CA346211703 | CAD | c.2558A>C (p.His853Pro) c.2369A>C (p.His790Pro) n.306A>C c.284A>C (p.His95Pro) | dbSNP |
2 | g.27232137A>G | CA346211706 | CAD | c.2558A>G (p.His853Arg) c.2369A>G (p.His790Arg) n.306A>G c.284A>G (p.His95Arg) | |
2 | g.27232137A>T | CA346211704 | CAD | c.2558A>T (p.His853Leu) c.2369A>T (p.His790Leu) n.306A>T c.284A>T (p.His95Leu) | |
2 | g.27232138C>A | CA346211710 | CAD | c.2559C>A (p.His853Gln) c.2370C>A (p.His790Gln) n.307C>A c.285C>A (p.His95Gln) | dbSNP |
2 | g.27232138C= | CA1240180304 | CAD | c.2559C= (p.His853=) c.2370C= (p.His790=) n.307C= c.285C= (p.His95=) | |
2 | g.27232138C>G | CA346211712 | CAD | c.2559C>G (p.His853Gln) c.2370C>G (p.His790Gln) n.307C>G c.285C>G (p.His95Gln) | |
2 | g.27232138C>T | CA425598680 | CAD | c.2559C>T (p.His853=) c.2370C>T (p.His790=) n.307C>T c.285C>T (p.His95=) | |
2 | g.27232139C>A | CA346211715 | CAD | c.2560C>A (p.Arg854Ser) c.2371C>A (p.Arg791Ser) n.308C>A c.286C>A (p.Arg96Ser) | |
2 | g.27232139C= | CA1240180305 | CAD | c.2560C= (p.Arg854=) c.2371C= (p.Arg791=) n.308C= c.286C= (p.Arg96=) | |
2 | g.27232139C>G | CA346211721 | CAD | c.2560C>G (p.Arg854Gly) c.2371C>G (p.Arg791Gly) n.308C>G c.286C>G (p.Arg96Gly) | |
2 | g.27232139C>T | CA44507217 | CAD | c.2560C>T (p.Arg854Cys) c.2371C>T (p.Arg791Cys) n.308C>T c.286C>T (p.Arg96Cys) | dbSNP gnomAD v4 |
2 | g.27232140G>A | CA346211722 | CAD | c.2561G>A (p.Arg854His) c.2372G>A (p.Arg791His) n.309G>A c.287G>A (p.Arg96His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232140G>C | CA346211725 | CAD | c.2561G>C (p.Arg854Pro) c.2372G>C (p.Arg791Pro) n.309G>C c.287G>C (p.Arg96Pro) | |
2 | g.27232140G= | CA1240180306 | CAD | c.2561G= (p.Arg854=) c.2372G= (p.Arg791=) n.309G= c.287G= (p.Arg96=) | |
2 | g.27232140G>T | CA346211736 | CAD | c.2561G>T (p.Arg854Leu) c.2372G>T (p.Arg791Leu) n.309G>T c.287G>T (p.Arg96Leu) | |
2 | g.27232141T>A | CA425598681 | CAD | c.2562T>A (p.Arg854=) c.2373T>A (p.Arg791=) n.310T>A c.288T>A (p.Arg96=) | |
2 | g.27232141T>C | CA425598682 | CAD | c.2562T>C (p.Arg854=) c.2373T>C (p.Arg791=) n.310T>C c.288T>C (p.Arg96=) | |
2 | g.27232141T>G | CA425598683 | CAD | c.2562T>G (p.Arg854=) c.2373T>G (p.Arg791=) n.310T>G c.288T>G (p.Arg96=) | |
2 | g.27232142G>A | CA346211738 | CAD | c.2563G>A (p.Gly855Arg) c.2374G>A (p.Gly792Arg) n.311G>A c.289G>A (p.Gly97Arg) | |
2 | g.27232142G>C | CA346211741 | CAD | c.2563G>C (p.Gly855Arg) c.2374G>C (p.Gly792Arg) n.311G>C c.289G>C (p.Gly97Arg) | |
2 | g.27232142G>T | CA346211743 | CAD | c.2563G>T (p.Gly855Ter) c.2374G>T (p.Gly792Ter) n.311G>T c.289G>T (p.Gly97Ter) | COSMIC |
2 | g.27232143G>A | CA346211746 | CAD | c.2564G>A (p.Gly855Glu) c.2375G>A (p.Gly792Glu) n.312G>A c.290G>A (p.Gly97Glu) | gnomAD v4 |
2 | g.27232143G>C | CA346211747 | CAD | c.2564G>C (p.Gly855Ala) c.2375G>C (p.Gly792Ala) n.312G>C c.290G>C (p.Gly97Ala) | |
2 | g.27232143G>T | CA346211749 | CAD | c.2564G>T (p.Gly855Val) c.2375G>T (p.Gly792Val) n.312G>T c.290G>T (p.Gly97Val) | |
2 | g.27232144A>C | CA425598687 | CAD | c.2565A>C (p.Gly855=) c.2376A>C (p.Gly792=) n.313A>C c.291A>C (p.Gly97=) | |
2 | g.27232144A>G | CA425598688 | CAD | c.2565A>G (p.Gly855=) c.2376A>G (p.Gly792=) n.313A>G c.291A>G (p.Gly97=) | ClinVar |
2 | g.27232144A>T | CA425598689 | CAD | c.2565A>T (p.Gly855=) c.2376A>T (p.Gly792=) n.313A>T c.291A>T (p.Gly97=) | |
2 | g.27232145C>A | CA346211751 | CAD | c.2566C>A (p.Gln856Lys) c.2377C>A (p.Gln793Lys) n.314C>A c.292C>A (p.Gln98Lys) | |
2 | g.27232145C>G | CA346211753 | CAD | c.2566C>G (p.Gln856Glu) c.2377C>G (p.Gln793Glu) n.314C>G c.292C>G (p.Gln98Glu) | |
2 | g.27232145C>T | CA346211755 | CAD | c.2566C>T (p.Gln856Ter) c.2377C>T (p.Gln793Ter) n.314C>T c.292C>T (p.Gln98Ter) | |
2 | g.27232146A= | CA1240180307 | CAD | c.2567A= (p.Gln856=) c.2378A= (p.Gln793=) n.315A= c.293A= (p.Gln98=) | |
2 | g.27232146A>C | CA346211757 | CAD | c.2567A>C (p.Gln856Pro) c.2378A>C (p.Gln793Pro) n.315A>C c.293A>C (p.Gln98Pro) | |
2 | g.27232146A>G | CA346211761 | CAD | c.2567A>G (p.Gln856Arg) c.2378A>G (p.Gln793Arg) n.315A>G c.293A>G (p.Gln98Arg) | dbSNP gnomAD v4 |
2 | g.27232146A>T | CA346211759 | CAD | c.2567A>T (p.Gln856Leu) c.2378A>T (p.Gln793Leu) n.315A>T c.293A>T (p.Gln98Leu) | |
2 | g.27232147G>A | CA425598694 | CAD | c.2568G>A (p.Gln856=) c.2379G>A (p.Gln793=) n.316G>A c.294G>A (p.Gln98=) | |
2 | g.27232147G>C | CA1573046 | CAD | c.2568G>C (p.Gln856His) c.2379G>C (p.Gln793His) n.316G>C c.294G>C (p.Gln98His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232147G= | CA1240180308 | CAD | c.2568G= (p.Gln856=) c.2379G= (p.Gln793=) n.316G= c.294G= (p.Gln98=) | |
2 | g.27232147G>T | CA346211765 | CAD | c.2568G>T (p.Gln856His) c.2379G>T (p.Gln793His) n.316G>T c.294G>T (p.Gln98His) | |
2 | g.27232148C>A | CA346211766 | CAD | c.2569C>A (p.Pro857Thr) c.2380C>A (p.Pro794Thr) n.317C>A c.295C>A (p.Pro99Thr) | |
2 | g.27232148C>G | CA346211767 | CAD | c.2569C>G (p.Pro857Ala) c.2380C>G (p.Pro794Ala) n.317C>G c.295C>G (p.Pro99Ala) | |
2 | g.27232148C>T | CA346211769 | CAD | c.2569C>T (p.Pro857Ser) c.2380C>T (p.Pro794Ser) n.317C>T c.295C>T (p.Pro99Ser) | |
2 | g.27232149C>A | CA346211771 | CAD | c.2570C>A (p.Pro857His) c.2381C>A (p.Pro794His) n.318C>A c.296C>A (p.Pro99His) | |
2 | g.27232149C>G | CA346211772 | CAD | c.2570C>G (p.Pro857Arg) c.2381C>G (p.Pro794Arg) n.318C>G c.296C>G (p.Pro99Arg) | |
2 | g.27232149C>T | CA346211775 | CAD | c.2570C>T (p.Pro857Leu) c.2381C>T (p.Pro794Leu) n.318C>T c.296C>T (p.Pro99Leu) | |
2 | g.27232150T>A | CA425598696 | CAD | c.2571T>A (p.Pro857=) c.2382T>A (p.Pro794=) n.319T>A c.297T>A (p.Pro99=) | |
2 | g.27232150T>C | CA425598697 | CAD | c.2571T>C (p.Pro857=) c.2382T>C (p.Pro794=) n.319T>C c.297T>C (p.Pro99=) | |
2 | g.27232150T>G | CA425598698 | CAD | c.2571T>G (p.Pro857=) c.2382T>G (p.Pro794=) n.319T>G c.297T>G (p.Pro99=) | |
2 | g.27232151T>A | CA346211778 | CAD | c.2572T>A (p.Leu858Met) c.2383T>A (p.Leu795Met) n.320T>A c.298T>A (p.Leu100Met) | |
2 | g.27232151T>C | CA425598699 | CAD | c.2572T>C (p.Leu858=) c.2383T>C (p.Leu795=) n.320T>C c.298T>C (p.Leu100=) | |
2 | g.27232151T>G | CA346211781 | CAD | c.2572T>G (p.Leu858Val) c.2383T>G (p.Leu795Val) n.320T>G c.298T>G (p.Leu100Val) | |
2 | g.27232152T>A | CA346211784 | CAD | c.2573T>A (p.Leu858Ter) c.2384T>A (p.Leu795Ter) n.321T>A c.299T>A (p.Leu100Ter) | |
2 | g.27232152T>C | CA346211786 | CAD | c.2573T>C (p.Leu858Ser) c.2384T>C (p.Leu795Ser) n.321T>C c.299T>C (p.Leu100Ser) | gnomAD v4 |
2 | g.27232152T>G | CA346211783 | CAD | c.2573T>G (p.Leu858Trp) c.2384T>G (p.Leu795Trp) n.321T>G c.299T>G (p.Leu100Trp) | |
2 | g.27232153G>A | CA425598703 | CAD | c.2574G>A (p.Leu858=) c.2385G>A (p.Leu795=) n.322G>A c.300G>A (p.Leu100=) | |
2 | g.27232153G>C | CA1573047 | CAD | c.2574G>C (p.Leu858Phe) c.2385G>C (p.Leu795Phe) n.322G>C c.300G>C (p.Leu100Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232153G= | CA1240180309 | CAD | c.2574G= (p.Leu858=) c.2385G= (p.Leu795=) n.322G= c.300G= (p.Leu100=) | |
2 | g.27232153G>T | CA346211790 | CAD | c.2574G>T (p.Leu858Phe) c.2385G>T (p.Leu795Phe) n.322G>T c.300G>T (p.Leu100Phe) | |
2 | g.27232154C>A | CA346211793 | CAD | c.2575C>A (p.Pro859Thr) c.2386C>A (p.Pro796Thr) n.323C>A c.301C>A (p.Pro101Thr) | |
2 | g.27232154C= | CA1240180310 | CAD | c.2575C= (p.Pro859=) c.2386C= (p.Pro796=) n.323C= c.301C= (p.Pro101=) | |
2 | g.27232154C>G | CA346211796 | CAD | c.2575C>G (p.Pro859Ala) c.2386C>G (p.Pro796Ala) n.323C>G c.301C>G (p.Pro101Ala) | |
2 | g.27232154C>T | CA346211797 | CAD | c.2575C>T (p.Pro859Ser) c.2386C>T (p.Pro796Ser) n.323C>T c.301C>T (p.Pro101Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232155C>A | CA346211800 | CAD | c.2576C>A (p.Pro859Gln) c.2387C>A (p.Pro796Gln) n.324C>A c.302C>A (p.Pro101Gln) | |
2 | g.27232155C= | CA1240180311 | CAD | c.2576C= (p.Pro859=) c.2387C= (p.Pro796=) n.324C= c.302C= (p.Pro101=) | |
2 | g.27232155C>G | CA346211803 | CAD | c.2576C>G (p.Pro859Arg) c.2387C>G (p.Pro796Arg) n.324C>G c.302C>G (p.Pro101Arg) | |
2 | g.27232155C>T | CA1573048 | CAD | c.2576C>T (p.Pro859Leu) c.2387C>T (p.Pro796Leu) n.324C>T c.302C>T (p.Pro101Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.27232156G>A | CA1573049 | CAD | c.2577G>A (p.Pro859=) c.2388G>A (p.Pro796=) n.325G>A c.303G>A (p.Pro101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232156G>C | CA425598707 | CAD | c.2577G>C (p.Pro859=) c.2388G>C (p.Pro796=) n.325G>C c.303G>C (p.Pro101=) | |
2 | g.27232156G= | CA1240180312 | CAD | c.2577G= (p.Pro859=) c.2388G= (p.Pro796=) n.325G= c.303G= (p.Pro101=) | |
2 | g.27232156G>T | CA425598708 | CAD | c.2577G>T (p.Pro859=) c.2388G>T (p.Pro796=) n.325G>T c.303G>T (p.Pro101=) | gnomAD v4 |
2 | g.27232157C>A | CA346211809 | CAD | c.2578C>A (p.Pro860Thr) c.2389C>A (p.Pro797Thr) n.326C>A c.304C>A (p.Pro102Thr) | |
2 | g.27232157C>G | CA346211812 | CAD | c.2578C>G (p.Pro860Ala) c.2389C>G (p.Pro797Ala) n.326C>G c.304C>G (p.Pro102Ala) | |
2 | g.27232157C>T | CA346211814 | CAD | c.2578C>T (p.Pro860Ser) c.2389C>T (p.Pro797Ser) n.326C>T c.304C>T (p.Pro102Ser) | |
2 | g.27232158C>A | CA346211819 | CAD | c.2579C>A (p.Pro860Gln) c.2390C>A (p.Pro797Gln) n.327C>A c.305C>A (p.Pro102Gln) | |
2 | g.27232158C= | CA1240180313 | CAD | c.2579C= (p.Pro860=) c.2390C= (p.Pro797=) n.327C= c.305C= (p.Pro102=) | |
2 | g.27232158C>G | CA346211822 | CAD | c.2579C>G (p.Pro860Arg) c.2390C>G (p.Pro797Arg) n.327C>G c.305C>G (p.Pro102Arg) | |
2 | g.27232158C>T | CA44507245 | CAD | c.2579C>T (p.Pro860Leu) c.2390C>T (p.Pro797Leu) n.327C>T c.305C>T (p.Pro102Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27232159A>C | CA425598712 | CAD | c.2580A>C (p.Pro860=) c.2391A>C (p.Pro797=) n.328A>C c.306A>C (p.Pro102=) | gnomAD v4 |
2 | g.27232159A>G | CA425598713 | CAD | c.2580A>G (p.Pro860=) c.2391A>G (p.Pro797=) n.328A>G c.306A>G (p.Pro102=) | |
2 | g.27232159A>T | CA425598714 | CAD | c.2580A>T (p.Pro860=) c.2391A>T (p.Pro797=) n.328A>T c.306A>T (p.Pro102=) | |
2 | g.27232160G>A | CA346211824 | CAD | c.2581G>A (p.Asp861Asn) c.2392G>A (p.Asp798Asn) n.329G>A c.307G>A (p.Asp103Asn) | |
2 | g.27232160G>C | CA346211826 | CAD | c.2581G>C (p.Asp861His) c.2392G>C (p.Asp798His) n.329G>C c.307G>C (p.Asp103His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232160G= | CA1240180314 | CAD | c.2581G= (p.Asp861=) c.2392G= (p.Asp798=) n.329G= c.307G= (p.Asp103=) | |
2 | g.27232160G>T | CA346211829 | CAD | c.2581G>T (p.Asp861Tyr) c.2392G>T (p.Asp798Tyr) n.329G>T c.307G>T (p.Asp103Tyr) | gnomAD v4 |
2 | g.27232161A>C | CA346211831 | CAD | c.2582A>C (p.Asp861Ala) c.2393A>C (p.Asp798Ala) n.330A>C c.308A>C (p.Asp103Ala) | |
2 | g.27232161A>G | CA346211834 | CAD | c.2582A>G (p.Asp861Gly) c.2393A>G (p.Asp798Gly) n.330A>G c.308A>G (p.Asp103Gly) | gnomAD v4 |
2 | g.27232161A>T | CA346211837 | CAD | c.2582A>T (p.Asp861Val) c.2393A>T (p.Asp798Val) n.330A>T c.308A>T (p.Asp103Val) | |
2 | g.27232162C>A | CA346211840 | CAD | c.2583C>A (p.Asp861Glu) c.2394C>A (p.Asp798Glu) n.331C>A c.309C>A (p.Asp103Glu) | |
2 | g.27232162C>G | CA346211842 | CAD | c.2583C>G (p.Asp861Glu) c.2394C>G (p.Asp798Glu) n.331C>G c.309C>G (p.Asp103Glu) | |
2 | g.27232162C>T | CA425598717 | CAD | c.2583C>T (p.Asp861=) c.2394C>T (p.Asp798=) n.331C>T c.309C>T (p.Asp103=) | gnomAD v4 |
2 | g.27232163C>A | CA346211845 | CAD | c.2584C>A (p.Leu862Met) c.2395C>A (p.Leu799Met) n.332C>A c.310C>A (p.Leu104Met) | |
2 | g.27232163C>G | CA346211851 | CAD | c.2584C>G (p.Leu862Val) c.2395C>G (p.Leu799Val) n.332C>G c.310C>G (p.Leu104Val) | |
2 | g.27232163C>T | CA425598719 | CAD | c.2584C>T (p.Leu862=) c.2395C>T (p.Leu799=) n.332C>T c.310C>T (p.Leu104=) | |
2 | g.27232164T>A | CA346211854 | CAD | c.2585T>A (p.Leu862Gln) c.2396T>A (p.Leu799Gln) n.333T>A c.311T>A (p.Leu104Gln) | |
2 | g.27232164T>C | CA346211856 | CAD | c.2585T>C (p.Leu862Pro) c.2396T>C (p.Leu799Pro) n.333T>C c.311T>C (p.Leu104Pro) | |
2 | g.27232164T>G | CA346211858 | CAD | c.2585T>G (p.Leu862Arg) c.2396T>G (p.Leu799Arg) n.333T>G c.311T>G (p.Leu104Arg) | |
2 | g.27232165G>A | CA1573050 | CAD | c.2586G>A (p.Leu862=) c.2397G>A (p.Leu799=) n.334G>A c.312G>A (p.Leu104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27232165G>C | CA425598721 | CAD | c.2586G>C (p.Leu862=) c.2397G>C (p.Leu799=) n.334G>C c.312G>C (p.Leu104=) | |
2 | g.27232165G= | CA1240180315 | CAD | c.2586G= (p.Leu862=) c.2397G= (p.Leu799=) n.334G= c.312G= (p.Leu104=) | |
2 | g.27232165G>T | CA425598722 | CAD | c.2586G>T (p.Leu862=) c.2397G>T (p.Leu799=) n.334G>T c.312G>T (p.Leu104=) | |
2 | g.27232166C>A | CA346211864 | CAD | c.2587C>A (p.Leu863Met) c.2398C>A (p.Leu800Met) n.335C>A c.313C>A (p.Leu105Met) | |
2 | g.27232166C>G | CA346211862 | CAD | c.2587C>G (p.Leu863Val) c.2398C>G (p.Leu800Val) n.335C>G c.313C>G (p.Leu105Val) | |
2 | g.27232166C>T | CA425598728 | CAD | c.2587C>T (p.Leu863=) c.2398C>T (p.Leu800=) n.335C>T c.313C>T (p.Leu105=) | ClinVar |
2 | g.27232167T>A | CA346211866 | CAD | c.2588T>A (p.Leu863Gln) c.2399T>A (p.Leu800Gln) n.336T>A c.314T>A (p.Leu105Gln) | |
2 | g.27232167T>C | CA44507272 | CAD | c.2588T>C (p.Leu863Pro) c.2399T>C (p.Leu800Pro) n.336T>C c.314T>C (p.Leu105Pro) | dbSNP |
2 | g.27232167T>G | CA346211870 | CAD | c.2588T>G (p.Leu863Arg) c.2399T>G (p.Leu800Arg) n.336T>G c.314T>G (p.Leu105Arg) | |
2 | g.27232167T= | CA1240180316 | CAD | c.2588T= (p.Leu863=) c.2399T= (p.Leu800=) n.336T= c.314T= (p.Leu105=) | |
2 | g.27232168G>A | CA425598733 | CAD | c.2589G>A (p.Leu863=) c.2400G>A (p.Leu800=) n.337G>A c.315G>A (p.Leu105=) | |
2 | g.27232168G>C | CA425598730 | CAD | c.2589G>C (p.Leu863=) c.2400G>C (p.Leu800=) n.337G>C c.315G>C (p.Leu105=) | |
2 | g.27232168G= | CA1240180317 | CAD | c.2589G= (p.Leu863=) c.2400G= (p.Leu800=) n.337G= c.315G= (p.Leu105=) | |
2 | g.27232168G>T | CA425598731 | CAD | c.2589G>T (p.Leu863=) c.2400G>T (p.Leu800=) n.337G>T c.315G>T (p.Leu105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232169C>A | CA346211875 | CAD | c.2590C>A (p.Gln864Lys) c.2401C>A (p.Gln801Lys) n.338C>A c.316C>A (p.Gln106Lys) | |
2 | g.27232169C>G | CA346211877 | CAD | c.2590C>G (p.Gln864Glu) c.2401C>G (p.Gln801Glu) n.338C>G c.316C>G (p.Gln106Glu) | |
2 | g.27232169C>T | CA346211879 | CAD | c.2590C>T (p.Gln864Ter) c.2401C>T (p.Gln801Ter) n.338C>T c.316C>T (p.Gln106Ter) | |
2 | g.27232170A>C | CA346211882 | CAD | c.2591A>C (p.Gln864Pro) c.2402A>C (p.Gln801Pro) n.339A>C c.317A>C (p.Gln106Pro) | |
2 | g.27232170A>G | CA346211885 | CAD | c.2591A>G (p.Gln864Arg) c.2402A>G (p.Gln801Arg) n.339A>G c.317A>G (p.Gln106Arg) | |
2 | g.27232170A>T | CA346211888 | CAD | c.2591A>T (p.Gln864Leu) c.2402A>T (p.Gln801Leu) n.339A>T c.317A>T (p.Gln106Leu) | |
2 | g.27232171A>C | CA346211891 | CAD | c.2592A>C (p.Gln864His) c.2403A>C (p.Gln801His) n.340A>C c.318A>C (p.Gln106His) | |
2 | g.27232171A>G | CA425598738 | CAD | c.2592A>G (p.Gln864=) c.2403A>G (p.Gln801=) n.340A>G c.318A>G (p.Gln106=) | |
2 | g.27232171A>T | CA346211894 | CAD | c.2592A>T (p.Gln864His) c.2403A>T (p.Gln801His) n.340A>T c.318A>T (p.Gln106His) | |
2 | g.27232172C>A | CA346211897 | CAD | c.2593C>A (p.Gln865Lys) c.2404C>A (p.Gln802Lys) n.341C>A c.319C>A (p.Gln107Lys) | |
2 | g.27232172C>G | CA346211900 | CAD | c.2593C>G (p.Gln865Glu) c.2404C>G (p.Gln802Glu) n.341C>G c.319C>G (p.Gln107Glu) | |
2 | g.27232172C>T | CA346211902 | CAD | c.2593C>T (p.Gln865Ter) c.2404C>T (p.Gln802Ter) n.341C>T c.319C>T (p.Gln107Ter) | |
2 | g.27232173A= | CA1240180318 | CAD | c.2594A= (p.Gln865=) c.2405A= (p.Gln802=) n.342A= c.320A= (p.Gln107=) | |
2 | g.27232173A>C | CA346211905 | CAD | c.2594A>C (p.Gln865Pro) c.2405A>C (p.Gln802Pro) n.342A>C c.320A>C (p.Gln107Pro) | |
2 | g.27232173A>G | CA44507280 | CAD | c.2594A>G (p.Gln865Arg) c.2405A>G (p.Gln802Arg) n.342A>G c.320A>G (p.Gln107Arg) | dbSNP |
2 | g.27232173A>T | CA346211908 | CAD | c.2594A>T (p.Gln865Leu) c.2405A>T (p.Gln802Leu) n.342A>T c.320A>T (p.Gln107Leu) | gnomAD v4 |
2 | g.27232174G>A | CA425598741 | CAD | c.2595G>A (p.Gln865=) c.2406G>A (p.Gln802=) n.343G>A c.321G>A (p.Gln107=) | gnomAD v4 |
2 | g.27232174G>C | CA346211911 | CAD | c.2595G>C (p.Gln865His) c.2406G>C (p.Gln802His) n.343G>C c.321G>C (p.Gln107His) | |
2 | g.27232174G>T | CA346211913 | CAD | c.2595G>T (p.Gln865His) c.2406G>T (p.Gln802His) n.343G>T c.321G>T (p.Gln107His) | |
2 | g.27232175G>A | CA346211916 | CAD | c.2596G>A (p.Ala866Thr) c.2407G>A (p.Ala803Thr) n.344G>A c.322G>A (p.Ala108Thr) | |
2 | g.27232175G>C | CA346211919 | CAD | c.2596G>C (p.Ala866Pro) c.2407G>C (p.Ala803Pro) n.344G>C c.322G>C (p.Ala108Pro) | |
2 | g.27232175G= | CA1240180319 | CAD | c.2596G= (p.Ala866=) c.2407G= (p.Ala803=) n.344G= c.322G= (p.Ala108=) | |
2 | g.27232175G>T | CA346211920 | CAD | c.2596G>T (p.Ala866Ser) c.2407G>T (p.Ala803Ser) n.344G>T c.322G>T (p.Ala108Ser) | dbSNP |
2 | g.27232176C>A | CA346211923 | CAD | c.2597C>A (p.Ala866Asp) c.2408C>A (p.Ala803Asp) n.345C>A c.323C>A (p.Ala108Asp) | |
2 | g.27232176C>G | CA346211926 | CAD | c.2597C>G (p.Ala866Gly) c.2408C>G (p.Ala803Gly) n.345C>G c.323C>G (p.Ala108Gly) | gnomAD v4 |
2 | g.27232176C>T | CA346211928 | CAD | c.2597C>T (p.Ala866Val) c.2408C>T (p.Ala803Val) n.345C>T c.323C>T (p.Ala108Val) | |
2 | g.27232177C>A | CA425598742 | CAD | c.2598C>A (p.Ala866=) c.2409C>A (p.Ala803=) n.346C>A c.324C>A (p.Ala108=) | |
2 | g.27232177C>G | CA425598743 | CAD | c.2598C>G (p.Ala866=) c.2409C>G (p.Ala803=) n.346C>G c.324C>G (p.Ala108=) | |
2 | g.27232177C>T | CA425598744 | CAD | c.2598C>T (p.Ala866=) c.2409C>T (p.Ala803=) n.346C>T c.324C>T (p.Ala108=) | |
2 | g.27232178A>C | CA346211930 | CAD | c.2599A>C (p.Lys867Gln) c.2410A>C (p.Lys804Gln) n.347A>C c.325A>C (p.Lys109Gln) | |
2 | g.27232178A>G | CA346211932 | CAD | c.2599A>G (p.Lys867Glu) c.2410A>G (p.Lys804Glu) n.347A>G c.325A>G (p.Lys109Glu) | |
2 | g.27232178A>T | CA346211936 | CAD | c.2599A>T (p.Lys867Ter) c.2410A>T (p.Lys804Ter) n.347A>T c.325A>T (p.Lys109Ter) | |
2 | g.27232179A>C | CA346211940 | CAD | c.2600A>C (p.Lys867Thr) c.2411A>C (p.Lys804Thr) n.348A>C c.326A>C (p.Lys109Thr) | |
2 | g.27232179A>G | CA346211943 | CAD | c.2600A>G (p.Lys867Arg) c.2411A>G (p.Lys804Arg) n.348A>G c.326A>G (p.Lys109Arg) | COSMIC |
2 | g.27232179A>T | CA346211944 | CAD | c.2600A>T (p.Lys867Met) c.2411A>T (p.Lys804Met) n.348A>T c.326A>T (p.Lys109Met) | |
2 | g.27232180G>A | CA425598748 | CAD | c.2601G>A (p.Lys867=) c.2412G>A (p.Lys804=) n.349G>A c.327G>A (p.Lys109=) | |
2 | g.27232180G>C | CA346211947 | CAD | c.2601G>C (p.Lys867Asn) c.2412G>C (p.Lys804Asn) n.349G>C c.327G>C (p.Lys109Asn) | |
2 | g.27232180G>T | CA346211949 | CAD | c.2601G>T (p.Lys867Asn) c.2412G>T (p.Lys804Asn) n.349G>T c.327G>T (p.Lys109Asn) | gnomAD v4 |
2 | g.27232181T>A | CA346211950 | CAD | c.2602T>A (p.Cys868Ser) c.2413T>A (p.Cys805Ser) n.350T>A c.328T>A (p.Cys110Ser) | |
2 | g.27232181T>C | CA346211953 | CAD | c.2602T>C (p.Cys868Arg) c.2413T>C (p.Cys805Arg) n.350T>C c.328T>C (p.Cys110Arg) | |
2 | g.27232181T>G | CA346211960 | CAD | c.2602T>G (p.Cys868Gly) c.2413T>G (p.Cys805Gly) n.350T>G c.328T>G (p.Cys110Gly) | |
2 | g.27232182G>A | CA346211965 | CAD | c.2603G>A (p.Cys868Tyr) c.2414G>A (p.Cys805Tyr) n.351G>A c.329G>A (p.Cys110Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232182G>C | CA346211967 | CAD | c.2603G>C (p.Cys868Ser) c.2414G>C (p.Cys805Ser) n.351G>C c.329G>C (p.Cys110Ser) | |
2 | g.27232182G= | CA1240180320 | CAD | c.2603G= (p.Cys868=) c.2414G= (p.Cys805=) n.351G= c.329G= (p.Cys110=) | |
2 | g.27232182G>T | CA346211968 | CAD | c.2603G>T (p.Cys868Phe) c.2414G>T (p.Cys805Phe) n.351G>T c.329G>T (p.Cys110Phe) | |
2 | g.27232183T>A | CA346211974 | CAD | c.2604T>A (p.Cys868Ter) c.2415T>A (p.Cys805Ter) n.352T>A c.330T>A (p.Cys110Ter) | |
2 | g.27232183T>C | CA425598752 | CAD | c.2604T>C (p.Cys868=) c.2415T>C (p.Cys805=) n.352T>C c.330T>C (p.Cys110=) | gnomAD v4 |
2 | g.27232183T>G | CA346211971 | CAD | c.2604T>G (p.Cys868Trp) c.2415T>G (p.Cys805Trp) n.352T>G c.330T>G (p.Cys110Trp) | |
2 | g.27232184C>A | CA346211977 | CAD | c.2605C>A (p.Leu869Ile) c.2416C>A (p.Leu806Ile) n.353C>A c.331C>A (p.Leu111Ile) | |
2 | g.27232184C>G | CA346211980 | CAD | c.2605C>G (p.Leu869Val) c.2416C>G (p.Leu806Val) n.353C>G c.331C>G (p.Leu111Val) | |
2 | g.27232184C>T | CA346211982 | CAD | c.2605C>T (p.Leu869Phe) c.2416C>T (p.Leu806Phe) n.353C>T c.331C>T (p.Leu111Phe) | |
2 | g.27232185T>A | CA346211984 | CAD | c.2606T>A (p.Leu869His) c.2417T>A (p.Leu806His) n.354T>A c.332T>A (p.Leu111His) | |
2 | g.27232185T>C | CA346211987 | CAD | c.2606T>C (p.Leu869Pro) c.2417T>C (p.Leu806Pro) n.354T>C c.332T>C (p.Leu111Pro) | |
2 | g.27232185T>G | CA346211990 | CAD | c.2606T>G (p.Leu869Arg) c.2417T>G (p.Leu806Arg) n.354T>G c.332T>G (p.Leu111Arg) | |
2 | g.27232186T>A | CA425598756 | CAD | c.2607T>A (p.Leu869=) c.2418T>A (p.Leu806=) n.355T>A c.333T>A (p.Leu111=) | ClinVar dbSNP gnomAD v4 |
2 | g.27232186T>C | CA425598757 | CAD | c.2607T>C (p.Leu869=) c.2418T>C (p.Leu806=) n.355T>C c.333T>C (p.Leu111=) | |
2 | g.27232186T>G | CA425598758 | CAD | c.2607T>G (p.Leu869=) c.2418T>G (p.Leu806=) n.355T>G c.333T>G (p.Leu111=) | |
2 | g.27232186T= | CA1240180321 | CAD | c.2607T= (p.Leu869=) c.2418T= (p.Leu806=) n.355T= c.333T= (p.Leu111=) | |
2 | g.27232187G>A | CA346211992 | CAD | c.2608G>A (p.Gly870Ser) c.2419G>A (p.Gly807Ser) n.356G>A c.334G>A (p.Gly112Ser) | |
2 | g.27232187G>C | CA346211996 | CAD | c.2608G>C (p.Gly870Arg) c.2419G>C (p.Gly807Arg) n.356G>C c.334G>C (p.Gly112Arg) | |
2 | g.27232187G>T | CA346211994 | CAD | c.2608G>T (p.Gly870Cys) c.2419G>T (p.Gly807Cys) n.356G>T c.334G>T (p.Gly112Cys) | |
2 | g.27232188G>A | CA346211999 | CAD | c.2609G>A (p.Gly870Asp) c.2420G>A (p.Gly807Asp) n.357G>A c.335G>A (p.Gly112Asp) | |
2 | g.27232188G>C | CA346212002 | CAD | c.2609G>C (p.Gly870Ala) c.2420G>C (p.Gly807Ala) n.357G>C c.335G>C (p.Gly112Ala) | |
2 | g.27232188G>T | CA346212004 | CAD | c.2609G>T (p.Gly870Val) c.2420G>T (p.Gly807Val) n.357G>T c.335G>T (p.Gly112Val) | |
2 | g.27232189C>A | CA425598762 | CAD | c.2610C>A (p.Gly870=) c.2421C>A (p.Gly807=) n.358C>A c.336C>A (p.Gly112=) | |
2 | g.27232189C>G | CA425598763 | CAD | c.2610C>G (p.Gly870=) c.2421C>G (p.Gly807=) n.358C>G c.336C>G (p.Gly112=) | |
2 | g.27232189C>T | CA425598764 | CAD | c.2610C>T (p.Gly870=) c.2421C>T (p.Gly807=) n.358C>T c.336C>T (p.Gly112=) | |
2 | g.27232190T>A | CA346212005 | CAD | c.2611T>A (p.Phe871Ile) c.2422T>A (p.Phe808Ile) n.359T>A c.337T>A (p.Phe113Ile) | |
2 | g.27232190T>C | CA346212009 | CAD | c.2611T>C (p.Phe871Leu) c.2422T>C (p.Phe808Leu) n.359T>C c.337T>C (p.Phe113Leu) | ClinVar dbSNP |
2 | g.27232190T>G | CA346212013 | CAD | c.2611T>G (p.Phe871Val) c.2422T>G (p.Phe808Val) n.359T>G c.337T>G (p.Phe113Val) | |
2 | g.27232191T>A | CA346212014 | CAD | c.2612T>A (p.Phe871Tyr) c.2423T>A (p.Phe808Tyr) n.360T>A c.338T>A (p.Phe113Tyr) | |
2 | g.27232191T>C | CA346212017 | CAD | c.2612T>C (p.Phe871Ser) c.2423T>C (p.Phe808Ser) n.360T>C c.338T>C (p.Phe113Ser) | |
2 | g.27232191T>G | CA346212021 | CAD | c.2612T>G (p.Phe871Cys) c.2423T>G (p.Phe808Cys) n.360T>G c.338T>G (p.Phe113Cys) | |
2 | g.27232192C>A | CA346212028 | CAD | c.2613C>A (p.Phe871Leu) c.2424C>A (p.Phe808Leu) n.361C>A c.339C>A (p.Phe113Leu) | |
2 | g.27232192C>G | CA346212029 | CAD | c.2613C>G (p.Phe871Leu) c.2424C>G (p.Phe808Leu) n.361C>G c.339C>G (p.Phe113Leu) | |
2 | g.27232192C>T | CA425598766 | CAD | c.2613C>T (p.Phe871=) c.2424C>T (p.Phe808=) n.361C>T c.339C>T (p.Phe113=) | |
2 | g.27232193T>A | CA346212032 | CAD | c.2614T>A (p.Ser872Thr) c.2425T>A (p.Ser809Thr) n.362T>A c.340T>A (p.Ser114Thr) | |
2 | g.27232193T>C | CA346212036 | CAD | c.2614T>C (p.Ser872Pro) c.2425T>C (p.Ser809Pro) n.362T>C c.340T>C (p.Ser114Pro) | |
2 | g.27232193T>G | CA346212034 | CAD | c.2614T>G (p.Ser872Ala) c.2425T>G (p.Ser809Ala) n.362T>G c.340T>G (p.Ser114Ala) | |
2 | g.27232193_27232197delinsTCAGA | CA1240180322 | CAD | c.2614_2618delinsTCAGA (p.Ser872=) c.2425_2429delinsTCAGA (p.Ser809=) n.362_366delinsTCAGA c.340_344delinsTCAGA (p.Ser114=) | |
2 | g.27232194C>A | CA346212039 | CAD | c.2615C>A (p.Ser872Ter) c.2426C>A (p.Ser809Ter) n.363C>A c.341C>A (p.Ser114Ter) | |
2 | g.27232194C>G | CA346212044 | CAD | c.2615C>G (p.Ser872Ter) c.2426C>G (p.Ser809Ter) n.363C>G c.341C>G (p.Ser114Ter) | |
2 | g.27232194C>T | CA346212041 | CAD | c.2615C>T (p.Ser872Leu) c.2426C>T (p.Ser809Leu) n.363C>T c.341C>T (p.Ser114Leu) | |
2 | g.27232196_27232199del | CA645293935 | CAD | c.2617_2620del (p.Asp873AsnfsTer8) c.2428_2431del (p.Asp810AsnfsTer8) n.365_368del c.343_346del (p.Asp115AsnfsTer8) | ClinVar dbSNP gnomAD v4 |
2 | g.27232195A>C | CA425598770 | CAD | c.2616A>C (p.Ser872=) c.2427A>C (p.Ser809=) n.364A>C c.342A>C (p.Ser114=) | |
2 | g.27232195A>G | CA425598771 | CAD | c.2616A>G (p.Ser872=) c.2427A>G (p.Ser809=) n.364A>G c.342A>G (p.Ser114=) | |
2 | g.27232195A>T | CA425598769 | CAD | c.2616A>T (p.Ser872=) c.2427A>T (p.Ser809=) n.364A>T c.342A>T (p.Ser114=) | |
2 | g.27232196G>A | CA346212047 | CAD | c.2617G>A (p.Asp873Asn) c.2428G>A (p.Asp810Asn) n.365G>A c.343G>A (p.Asp115Asn) | |
2 | g.27232196G>C | CA346212049 | CAD | c.2617G>C (p.Asp873His) c.2428G>C (p.Asp810His) n.365G>C c.343G>C (p.Asp115His) | |
2 | g.27232196G>T | CA346212052 | CAD | c.2617G>T (p.Asp873Tyr) c.2428G>T (p.Asp810Tyr) n.365G>T c.343G>T (p.Asp115Tyr) | |
2 | g.27232197A>C | CA346212056 | CAD | c.2618A>C (p.Asp873Ala) c.2429A>C (p.Asp810Ala) n.366A>C c.344A>C (p.Asp115Ala) | |
2 | g.27232197A>G | CA346212057 | CAD | c.2618A>G (p.Asp873Gly) c.2429A>G (p.Asp810Gly) n.366A>G c.344A>G (p.Asp115Gly) | |
2 | g.27232197A>T | CA346212059 | CAD | c.2618A>T (p.Asp873Val) c.2429A>T (p.Asp810Val) n.366A>T c.344A>T (p.Asp115Val) | |
2 | g.27232200_27232203del | CA2576939083 | CAD | c.2621_2624del (p.Lys874ArgfsTer7) c.2432_2435del (p.Lys811ArgfsTer7) n.369_372del c.347_350del (p.Lys116ArgfsTer7) | |
2 | g.27232198C>A | CA346212062 | CAD | c.2619C>A (p.Asp873Glu) c.2430C>A (p.Asp810Glu) n.367C>A c.345C>A (p.Asp115Glu) | |
2 | g.27232198C= | CA1240180323 | CAD | c.2619C= (p.Asp873=) c.2430C= (p.Asp810=) n.367C= c.345C= (p.Asp115=) | |
2 | g.27232198C>G | CA346212065 | CAD | c.2619C>G (p.Asp873Glu) c.2430C>G (p.Asp810Glu) n.367C>G c.345C>G (p.Asp115Glu) | |
2 | g.27232198C>T | CA1573051 | CAD | c.2619C>T (p.Asp873=) c.2430C>T (p.Asp810=) n.367C>T c.345C>T (p.Asp115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27232199A>C | CA346212071 | CAD | c.2620A>C (p.Lys874Gln) c.2431A>C (p.Lys811Gln) n.368A>C c.346A>C (p.Lys116Gln) | |
2 | g.27232199A>G | CA346212074 | CAD | c.2620A>G (p.Lys874Glu) c.2431A>G (p.Lys811Glu) n.368A>G c.346A>G (p.Lys116Glu) | |
2 | g.27232199A>T | CA346212077 | CAD | c.2620A>T (p.Lys874Ter) c.2431A>T (p.Lys811Ter) n.368A>T c.346A>T (p.Lys116Ter) | |
2 | g.27232199_27232200insT | CA2658308775 | CAD | c.2620_2621insT (p.Lys874IlefsTer?) c.2431_2432insT (p.Lys811IlefsTer?) n.368_369insT c.346_347insT (p.Lys116IlefsTer?) | gnomAD v4 |
2 | g.27232200A= | CA1240180324 | CAD | c.2621A= (p.Lys874=) c.2432A= (p.Lys811=) n.369A= c.347A= (p.Lys116=) | |
2 | g.27232200A>C | CA346212085 | CAD | c.2621A>C (p.Lys874Thr) c.2432A>C (p.Lys811Thr) n.369A>C c.347A>C (p.Lys116Thr) | |
2 | g.27232200A>G | CA44507290 | CAD | c.2621A>G (p.Lys874Arg) c.2432A>G (p.Lys811Arg) n.369A>G c.347A>G (p.Lys116Arg) | dbSNP |
2 | g.27232200A>T | CA346212080 | CAD | c.2621A>T (p.Lys874Ile) c.2432A>T (p.Lys811Ile) n.369A>T c.347A>T (p.Lys116Ile) | |
2 | g.27232201A>C | CA346212088 | CAD | c.2622A>C (p.Lys874Asn) c.2433A>C (p.Lys811Asn) n.370A>C c.348A>C (p.Lys116Asn) | |
2 | g.27232201A>G | CA425598774 | CAD | c.2622A>G (p.Lys874=) c.2433A>G (p.Lys811=) n.370A>G c.348A>G (p.Lys116=) | |
2 | g.27232201A>T | CA346212090 | CAD | c.2622A>T (p.Lys874Asn) c.2433A>T (p.Lys811Asn) n.370A>T c.348A>T (p.Lys116Asn) | |
2 | g.27232202C>A | CA346212093 | CAD | c.2623C>A (p.Gln875Lys) c.2434C>A (p.Gln812Lys) n.371C>A c.349C>A (p.Gln117Lys) | |
2 | g.27232202C= | CA1240180325 | CAD | c.2623C= (p.Gln875=) c.2434C= (p.Gln812=) n.371C= c.349C= (p.Gln117=) | |
2 | g.27232202C>G | CA346212095 | CAD | c.2623C>G (p.Gln875Glu) c.2434C>G (p.Gln812Glu) n.371C>G c.349C>G (p.Gln117Glu) | |
2 | g.27232202C>T | CA346212098 | CAD | c.2623C>T (p.Gln875Ter) c.2434C>T (p.Gln812Ter) n.371C>T c.349C>T (p.Gln117Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27232203del | CA2658308776 | CAD | c.2624del (p.Gln875ArgfsTer7) c.2435del (p.Gln812ArgfsTer7) n.372del c.350del (p.Gln117ArgfsTer7) | gnomAD v4 |
2 | g.27232203A>C | CA346212100 | CAD | c.2624A>C (p.Gln875Pro) c.2435A>C (p.Gln812Pro) n.372A>C c.350A>C (p.Gln117Pro) | |
2 | g.27232203A>G | CA346212103 | CAD | c.2624A>G (p.Gln875Arg) c.2435A>G (p.Gln812Arg) n.372A>G c.350A>G (p.Gln117Arg) | |
2 | g.27232203A>T | CA346212104 | CAD | c.2624A>T (p.Gln875Leu) c.2435A>T (p.Gln812Leu) n.372A>T c.350A>T (p.Gln117Leu) |