Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626211dupCA2695209282RP1c.2329dup (p.Arg777LysfsTer4)
c.787+3923dup (n.787+3923dup)
c.2350dup (p.Arg784LysfsTer4)
8g.54626211A=CA1785188207RP1c.2329A= (p.Arg777=)
c.787+3923A= (n.787+3923A=)
c.2350A= (p.Arg784=)
8g.54626211A>CCA461098901RP1c.2329A>C (p.Arg777=)
c.787+3923A>C (n.787+3923A>C)
c.2350A>C (p.Arg784=)
8g.54626211A>GCA177237105RP1c.2329A>G (p.Arg777Gly)
c.787+3923A>G (n.787+3923A>G)
c.2350A>G (p.Arg784Gly)
 dbSNP gnomAD v4
8g.54626211A>TCA370993432RP1c.2329A>T (p.Arg777Ter)
c.787+3923A>T (n.787+3923A>T)
c.2350A>T (p.Arg784Ter)
8g.54626212G>ACA370993433RP1c.2330G>A (p.Arg777Lys)
c.787+3924G>A (n.787+3924G>A)
c.2351G>A (p.Arg784Lys)
 COSMIC
8g.54626212G>CCA370993434RP1c.2330G>C (p.Arg777Thr)
c.787+3924G>C (n.787+3924G>C)
c.2351G>C (p.Arg784Thr)
8g.54626212G>TCA370993435RP1c.2330G>T (p.Arg777Ile)
c.787+3924G>T (n.787+3924G>T)
c.2351G>T (p.Arg784Ile)
 COSMIC
8g.54626213A>CCA370993436RP1c.2331A>C (p.Arg777Ser)
c.787+3925A>C (n.787+3925A>C)
c.2352A>C (p.Arg784Ser)
8g.54626213A>GCA461098902RP1c.2331A>G (p.Arg777=)
c.787+3925A>G (n.787+3925A>G)
c.2352A>G (p.Arg784=)
 gnomAD v4
8g.54626213A>TCA370993437RP1c.2331A>T (p.Arg777Ser)
c.787+3925A>T (n.787+3925A>T)
c.2352A>T (p.Arg784Ser)
8g.54626216dupCA2697549949RP1c.2334dup (p.Ser779IlefsTer2)
c.787+3928dup (n.787+3928dup)
c.2355dup (p.Ser786IlefsTer2)
 ClinVar
8g.54626215_54626216dupCA2695209283RP1c.2333_2334dup (p.Ser779AsnfsTer5)
c.787+3927_787+3928dup (n.787+3927_787+3928dup)
c.2354_2355dup (p.Ser786AsnfsTer5)
8g.54626216delCA2499219350RP1c.2334del (p.Lys778AsnfsTer5)
c.787+3928del (n.787+3928del)
c.2355del (p.Lys785AsnfsTer5)
 ClinVar dbSNP
8g.54626214A=CA1785188208RP1c.2332A= (p.Lys778=)
c.787+3926A= (n.787+3926A=)
c.2353A= (p.Lys785=)
8g.54626214A>CCA370993438RP1c.2332A>C (p.Lys778Gln)
c.787+3926A>C (n.787+3926A>C)
c.2353A>C (p.Lys785Gln)
8g.54626214A>GCA370993439RP1c.2332A>G (p.Lys778Glu)
c.787+3926A>G (n.787+3926A>G)
c.2353A>G (p.Lys785Glu)
8g.54626214A>TCA370993440RP1c.2332A>T (p.Lys778Ter)
c.787+3926A>T (n.787+3926A>T)
c.2353A>T (p.Lys785Ter)
 ClinVar dbSNP
8g.54626215A=CA1785188209RP1c.2333A= (p.Lys778=)
c.787+3927A= (n.787+3927A=)
c.2354A= (p.Lys785=)
8g.54626215A>CCA370993443RP1c.2333A>C (p.Lys778Thr)
c.787+3927A>C (n.787+3927A>C)
c.2354A>C (p.Lys785Thr)
8g.54626215A>GCA370993442RP1c.2333A>G (p.Lys778Arg)
c.787+3927A>G (n.787+3927A>G)
c.2354A>G (p.Lys785Arg)
 dbSNP
8g.54626215A>TCA370993441RP1c.2333A>T (p.Lys778Ile)
c.787+3927A>T (n.787+3927A>T)
c.2354A>T (p.Lys785Ile)
8g.54626216A>CCA370993444RP1c.2334A>C (p.Lys778Asn)
c.787+3928A>C (n.787+3928A>C)
c.2355A>C (p.Lys785Asn)
8g.54626216A>GCA461098903RP1c.2334A>G (p.Lys778=)
c.787+3928A>G (n.787+3928A>G)
c.2355A>G (p.Lys785=)
8g.54626216A>TCA370993445RP1c.2334A>T (p.Lys778Asn)
c.787+3928A>T (n.787+3928A>T)
c.2355A>T (p.Lys785Asn)
8g.54626216_54626217insACCAAACACACCCAACACACA2780387015RP1c.2334_2335insACCAAACACACCCAACACA (p.Ser779ThrfsTer8)
c.787+3928_787+3929insACCAAACACACCCAACACA (n.787+3928_787+3929insACCAAACACACCCAACACA)
c.2355_2356insACCAAACACACCCAACACA (p.Ser786ThrfsTer8)
8g.54626216_54626217delinsATCA1785188210RP1c.2334_2335delinsAT (p.Lys778=)
c.787+3928_787+3929delinsAT (n.787+3928_787+3929delinsAT)
c.2355_2356delinsAT (p.Lys785=)
8g.54626217delCA658821502RP1c.2335del (p.Ser779LeufsTer4)
c.787+3929del (n.787+3929del)
c.2356del (p.Ser786LeufsTer4)
 ClinVar dbSNP
8g.54626217T>ACA370993446RP1c.2335T>A (p.Ser779Thr)
c.787+3929T>A (n.787+3929T>A)
c.2356T>A (p.Ser786Thr)
8g.54626217T>CCA370993447RP1c.2335T>C (p.Ser779Pro)
c.787+3929T>C (n.787+3929T>C)
c.2356T>C (p.Ser786Pro)
 gnomAD v4
8g.54626217T>GCA370993448RP1c.2335T>G (p.Ser779Ala)
c.787+3929T>G (n.787+3929T>G)
c.2356T>G (p.Ser786Ala)
8g.54626218_54626219delCA2695209284RP1c.2336_2337del (p.Ser779Ter)
c.787+3930_787+3931del (n.787+3930_787+3931del)
c.2357_2358del (p.Ser786Ter)
 ClinVar
8g.54626218C>ACA4751507RP1c.2336C>A (p.Ser779Tyr)
c.787+3930C>A (n.787+3930C>A)
c.2357C>A (p.Ser786Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626218C=CA1785188211RP1c.2336C= (p.Ser779=)
c.787+3930C= (n.787+3930C=)
c.2357C= (p.Ser786=)
8g.54626218C>GCA370993450RP1c.2336C>G (p.Ser779Cys)
c.787+3930C>G (n.787+3930C>G)
c.2357C>G (p.Ser786Cys)
8g.54626218C>TCA370993452RP1c.2336C>T (p.Ser779Phe)
c.787+3930C>T (n.787+3930C>T)
c.2357C>T (p.Ser786Phe)
8g.54626219T>ACA461098904RP1c.2337T>A (p.Ser779=)
c.787+3931T>A (n.787+3931T>A)
c.2358T>A (p.Ser786=)
8g.54626219T>CCA461098905RP1c.2337T>C (p.Ser779=)
c.787+3931T>C (n.787+3931T>C)
c.2358T>C (p.Ser786=)
8g.54626219T>GCA461098906RP1c.2337T>G (p.Ser779=)
c.787+3931T>G (n.787+3931T>G)
c.2358T>G (p.Ser786=)
8g.54626220A=CA1785188212RP1c.2338A= (p.Arg780=)
c.787+3932A= (n.787+3932A=)
c.2359A= (p.Arg787=)
8g.54626220A>CCA461098907RP1c.2338A>C (p.Arg780=)
c.787+3932A>C (n.787+3932A>C)
c.2359A>C (p.Arg787=)
8g.54626220A>GCA177237109RP1c.2338A>G (p.Arg780Gly)
c.787+3932A>G (n.787+3932A>G)
c.2359A>G (p.Arg787Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626220A>TCA370993455RP1c.2338A>T (p.Arg780Ter)
c.787+3932A>T (n.787+3932A>T)
c.2359A>T (p.Arg787Ter)
8g.54626221G>ACA370993458RP1c.2339G>A (p.Arg780Lys)
c.787+3933G>A (n.787+3933G>A)
c.2360G>A (p.Arg787Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54626221G>CCA370993460RP1c.2339G>C (p.Arg780Thr)
c.787+3933G>C (n.787+3933G>C)
c.2360G>C (p.Arg787Thr)
8g.54626221G=CA1785188213RP1c.2339G= (p.Arg780=)
c.787+3933G= (n.787+3933G=)
c.2360G= (p.Arg787=)
8g.54626221G>TCA4751508RP1c.2339G>T (p.Arg780Ile)
c.787+3933G>T (n.787+3933G>T)
c.2360G>T (p.Arg787Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626221_54626222insCCA2567072315RP1c.2339_2340insC (p.Arg780SerfsTer5)
c.787+3933_787+3934insC (n.787+3933_787+3934insC)
c.2360_2361insC (p.Arg787SerfsTer5)
8g.54626222A=CA1785188214RP1c.2340A= (p.Arg780=)
c.787+3934A= (n.787+3934A=)
c.2361A= (p.Arg787=)
8g.54626222A>CCA370993464RP1c.2340A>C (p.Arg780Ser)
c.787+3934A>C (n.787+3934A>C)
c.2361A>C (p.Arg787Ser)
8g.54626222A>GCA177237115RP1c.2340A>G (p.Arg780=)
c.787+3934A>G (n.787+3934A>G)
c.2361A>G (p.Arg787=)
 dbSNP gnomAD v4
8g.54626222A>TCA370993463RP1c.2340A>T (p.Arg780Ser)
c.787+3934A>T (n.787+3934A>T)
c.2361A>T (p.Arg787Ser)
8g.54626223T>ACA370993466RP1c.2341T>A (p.Ser781Thr)
c.787+3935T>A (n.787+3935T>A)
c.2362T>A (p.Ser788Thr)
 dbSNP
8g.54626223T>CCA370993469RP1c.2341T>C (p.Ser781Pro)
c.787+3935T>C (n.787+3935T>C)
c.2362T>C (p.Ser788Pro)
8g.54626223T>GCA370993471RP1c.2341T>G (p.Ser781Ala)
c.787+3935T>G (n.787+3935T>G)
c.2362T>G (p.Ser788Ala)
8g.54626223T=CA1785188215RP1c.2341T= (p.Ser781=)
c.787+3935T= (n.787+3935T=)
c.2362T= (p.Ser788=)
8g.54626224C>ACA370993473RP1c.2342C>A (p.Ser781Ter)
c.787+3936C>A (n.787+3936C>A)
c.2363C>A (p.Ser788Ter)
 ClinVar dbSNP
8g.54626224C=CA1785188216RP1c.2342C= (p.Ser781=)
c.787+3936C= (n.787+3936C=)
c.2363C= (p.Ser788=)
8g.54626224C>GCA370993481RP1c.2342C>G (p.Ser781Ter)
c.787+3936C>G (n.787+3936C>G)
c.2363C>G (p.Ser788Ter)
8g.54626224C>TCA370993483RP1c.2342C>T (p.Ser781Leu)
c.787+3936C>T (n.787+3936C>T)
c.2363C>T (p.Ser788Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54626225A>CCA461098908RP1c.2343A>C (p.Ser781=)
c.787+3937A>C (n.787+3937A>C)
c.2364A>C (p.Ser788=)
8g.54626225A>GCA461098909RP1c.2343A>G (p.Ser781=)
c.787+3937A>G (n.787+3937A>G)
c.2364A>G (p.Ser788=)
 ClinVar dbSNP gnomAD v4
8g.54626225A>TCA461098910RP1c.2343A>T (p.Ser781=)
c.787+3937A>T (n.787+3937A>T)
c.2364A>T (p.Ser788=)
8g.54626226C>ACA370993485RP1c.2344C>A (p.Leu782Ile)
c.787+3938C>A (n.787+3938C>A)
c.2365C>A (p.Leu789Ile)
8g.54626226C=CA1785188217RP1c.2344C= (p.Leu782=)
c.787+3938C= (n.787+3938C=)
c.2365C= (p.Leu789=)
8g.54626226C>GCA4751509RP1c.2344C>G (p.Leu782Val)
c.787+3938C>G (n.787+3938C>G)
c.2365C>G (p.Leu789Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626226C>TCA177237119RP1c.2344C>T (p.Leu782=)
c.787+3938C>T (n.787+3938C>T)
c.2365C>T (p.Leu789=)
 dbSNP
8g.54626227T>ACA370993489RP1c.2345T>A (p.Leu782Gln)
c.787+3939T>A (n.787+3939T>A)
c.2366T>A (p.Leu789Gln)
8g.54626227T>CCA370993490RP1c.2345T>C (p.Leu782Pro)
c.787+3939T>C (n.787+3939T>C)
c.2366T>C (p.Leu789Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.54626227T>GCA370993492RP1c.2345T>G (p.Leu782Arg)
c.787+3939T>G (n.787+3939T>G)
c.2366T>G (p.Leu789Arg)
8g.54626227T=CA1785188218RP1c.2345T= (p.Leu782=)
c.787+3939T= (n.787+3939T=)
c.2366T= (p.Leu789=)
8g.54626228A>CCA461098913RP1c.2346A>C (p.Leu782=)
c.787+3940A>C (n.787+3940A>C)
c.2367A>C (p.Leu789=)
8g.54626228A>GCA461098912RP1c.2346A>G (p.Leu782=)
c.787+3940A>G (n.787+3940A>G)
c.2367A>G (p.Leu789=)
8g.54626228A>TCA461098911RP1c.2346A>T (p.Leu782=)
c.787+3940A>T (n.787+3940A>T)
c.2367A>T (p.Leu789=)
8g.54626230dupCA1139660534RP1c.2348dup (p.Asn783LysfsTer2)
c.787+3942dup (n.787+3942dup)
c.2369dup (p.Asn790LysfsTer2)
 ClinVar dbSNP gnomAD v4
8g.54626234_54626238delCA2580617158RP1c.2352_2356del (p.Ile785LeufsTer5)
c.787+3946_787+3950del (n.787+3946_787+3950del)
c.2373_2377del (p.Ile792LeufsTer5)
 ClinVar dbSNP gnomAD v4
8g.54626229A=CA1785188219RP1c.2347A= (p.Asn783=)
c.787+3941A= (n.787+3941A=)
c.2368A= (p.Asn790=)
8g.54626229A>CCA370993494RP1c.2347A>C (p.Asn783His)
c.787+3941A>C (n.787+3941A>C)
c.2368A>C (p.Asn790His)
8g.54626229A>GCA370993496RP1c.2347A>G (p.Asn783Asp)
c.787+3941A>G (n.787+3941A>G)
c.2368A>G (p.Asn790Asp)
 gnomAD v4
8g.54626229A>TCA4751510RP1c.2347A>T (p.Asn783Tyr)
c.787+3941A>T (n.787+3941A>T)
c.2368A>T (p.Asn790Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626230A>CCA370993500RP1c.2348A>C (p.Asn783Thr)
c.787+3942A>C (n.787+3942A>C)
c.2369A>C (p.Asn790Thr)
8g.54626230A>GCA370993502RP1c.2348A>G (p.Asn783Ser)
c.787+3942A>G (n.787+3942A>G)
c.2369A>G (p.Asn790Ser)
8g.54626230A>TCA370993499RP1c.2348A>T (p.Asn783Ile)
c.787+3942A>T (n.787+3942A>T)
c.2369A>T (p.Asn790Ile)
8g.54626231T>ACA370993505RP1c.2349T>A (p.Asn783Lys)
c.787+3943T>A (n.787+3943T>A)
c.2370T>A (p.Asn790Lys)
8g.54626231T>CCA461098914RP1c.2349T>C (p.Asn783=)
c.787+3943T>C (n.787+3943T>C)
c.2370T>C (p.Asn790=)
 dbSNP gnomAD v2 gnomAD v4
8g.54626231T>GCA370993503RP1c.2349T>G (p.Asn783Lys)
c.787+3943T>G (n.787+3943T>G)
c.2370T>G (p.Asn790Lys)
8g.54626231T=CA1785188220RP1c.2349T= (p.Asn783=)
c.787+3943T= (n.787+3943T=)
c.2370T= (p.Asn790=)
8g.54626232A=CA1785188221RP1c.2350A= (p.Lys784=)
c.787+3944A= (n.787+3944A=)
c.2371A= (p.Lys791=)
8g.54626232A>CCA4751511RP1c.2350A>C (p.Lys784Gln)
c.787+3944A>C (n.787+3944A>C)
c.2371A>C (p.Lys791Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626232A>GCA370993507RP1c.2350A>G (p.Lys784Glu)
c.787+3944A>G (n.787+3944A>G)
c.2371A>G (p.Lys791Glu)
8g.54626232A>TCA370993510RP1c.2350A>T (p.Lys784Ter)
c.787+3944A>T (n.787+3944A>T)
c.2371A>T (p.Lys791Ter)
8g.54626233_54626238delCA2573143223RP1c.2351_2356del (p.Lys784_Ile785del)
c.787+3945_787+3950del (n.787+3945_787+3950del)
c.2372_2377del (p.Lys791_Ile792del)
 ClinVar dbSNP
8g.54626233A>CCA370993513RP1c.2351A>C (p.Lys784Thr)
c.787+3945A>C (n.787+3945A>C)
c.2372A>C (p.Lys791Thr)
8g.54626233A>GCA370993514RP1c.2351A>G (p.Lys784Arg)
c.787+3945A>G (n.787+3945A>G)
c.2372A>G (p.Lys791Arg)
8g.54626233A>TCA370993516RP1c.2351A>T (p.Lys784Ile)
c.787+3945A>T (n.787+3945A>T)
c.2372A>T (p.Lys791Ile)
8g.54626234A=CA1785188222RP1c.2352A= (p.Lys784=)
c.787+3946A= (n.787+3946A=)
c.2373A= (p.Lys791=)
8g.54626234A>CCA370993518RP1c.2352A>C (p.Lys784Asn)
c.787+3946A>C (n.787+3946A>C)
c.2373A>C (p.Lys791Asn)
8g.54626234A>GCA461098915RP1c.2352A>G (p.Lys784=)
c.787+3946A>G (n.787+3946A>G)
c.2373A>G (p.Lys791=)
 dbSNP gnomAD v4
8g.54626234A>TCA370993520RP1c.2352A>T (p.Lys784Asn)
c.787+3946A>T (n.787+3946A>T)
c.2373A>T (p.Lys791Asn)
8g.54626235A=CA1785188223RP1c.2353A= (p.Ile785=)
c.787+3947A= (n.787+3947A=)
c.2374A= (p.Ile792=)
8g.54626235A>CCA370993522RP1c.2353A>C (p.Ile785Leu)
c.787+3947A>C (n.787+3947A>C)
c.2374A>C (p.Ile792Leu)
8g.54626235A>GCA4751512RP1c.2353A>G (p.Ile785Val)
c.787+3947A>G (n.787+3947A>G)
c.2374A>G (p.Ile792Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626235A>TCA370993524RP1c.2353A>T (p.Ile785Leu)
c.787+3947A>T (n.787+3947A>T)
c.2374A>T (p.Ile792Leu)
8g.54626236T>ACA370993527RP1c.2354T>A (p.Ile785Lys)
c.787+3948T>A (n.787+3948T>A)
c.2375T>A (p.Ile792Lys)
8g.54626236T>CCA370993528RP1c.2354T>C (p.Ile785Thr)
c.787+3948T>C (n.787+3948T>C)
c.2375T>C (p.Ile792Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626236T>GCA370993529RP1c.2354T>G (p.Ile785Arg)
c.787+3948T>G (n.787+3948T>G)
c.2375T>G (p.Ile792Arg)
8g.54626236T=CA1785188224RP1c.2354T= (p.Ile785=)
c.787+3948T= (n.787+3948T=)
c.2375T= (p.Ile792=)
8g.54626237A>CCA461098656RP1c.2355A>C (p.Ile785=)
c.787+3949A>C (n.787+3949A>C)
c.2376A>C (p.Ile792=)
8g.54626237A>GCA370993531RP1c.2355A>G (p.Ile785Met)
c.787+3949A>G (n.787+3949A>G)
c.2376A>G (p.Ile792Met)
8g.54626237A>TCA461098659RP1c.2355A>T (p.Ile785=)
c.787+3949A>T (n.787+3949A>T)
c.2376A>T (p.Ile792=)
8g.54626238A>CCA370993537RP1c.2356A>C (p.Ser786Arg)
c.787+3950A>C (n.787+3950A>C)
c.2377A>C (p.Ser793Arg)
8g.54626238A>GCA370993535RP1c.2356A>G (p.Ser786Gly)
c.787+3950A>G (n.787+3950A>G)
c.2377A>G (p.Ser793Gly)
 ClinVar dbSNP
8g.54626238A>TCA370993534RP1c.2356A>T (p.Ser786Cys)
c.787+3950A>T (n.787+3950A>T)
c.2377A>T (p.Ser793Cys)
8g.54626239G>ACA370993539RP1c.2357G>A (p.Ser786Asn)
c.787+3951G>A (n.787+3951G>A)
c.2378G>A (p.Ser793Asn)
 COSMIC
8g.54626239G>CCA370993541RP1c.2357G>C (p.Ser786Thr)
c.787+3951G>C (n.787+3951G>C)
c.2378G>C (p.Ser793Thr)
8g.54626239G>TCA370993542RP1c.2357G>T (p.Ser786Ile)
c.787+3951G>T (n.787+3951G>T)
c.2378G>T (p.Ser793Ile)
8g.54626240C>ACA370993545RP1c.2358C>A (p.Ser786Arg)
c.787+3952C>A (n.787+3952C>A)
c.2379C>A (p.Ser793Arg)
8g.54626240C=CA1785188225RP1c.2358C= (p.Ser786=)
c.787+3952C= (n.787+3952C=)
c.2379C= (p.Ser793=)
8g.54626240C>GCA370993546RP1c.2358C>G (p.Ser786Arg)
c.787+3952C>G (n.787+3952C>G)
c.2379C>G (p.Ser793Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54626240C>TCA461098666RP1c.2358C>T (p.Ser786=)
c.787+3952C>T (n.787+3952C>T)
c.2379C>T (p.Ser793=)
8g.54626241T>ACA370993548RP1c.2359T>A (p.Leu787Ile)
c.787+3953T>A (n.787+3953T>A)
c.2380T>A (p.Leu794Ile)
8g.54626241T>CCA461098668RP1c.2359T>C (p.Leu787=)
c.787+3953T>C (n.787+3953T>C)
c.2380T>C (p.Leu794=)
8g.54626241T>GCA370993550RP1c.2359T>G (p.Leu787Val)
c.787+3953T>G (n.787+3953T>G)
c.2380T>G (p.Leu794Val)
8g.54626242T>ACA370993552RP1c.2360T>A (p.Leu787Ter)
c.787+3954T>A (n.787+3954T>A)
c.2381T>A (p.Leu794Ter)
 ClinVar dbSNP
8g.54626242T>CCA370993554RP1c.2360T>C (p.Leu787Ser)
c.787+3954T>C (n.787+3954T>C)
c.2381T>C (p.Leu794Ser)
8g.54626242T>GCA370993556RP1c.2360T>G (p.Leu787Ter)
c.787+3954T>G (n.787+3954T>G)
c.2381T>G (p.Leu794Ter)
8g.54626242T=CA1785188226RP1c.2360T= (p.Leu787=)
c.787+3954T= (n.787+3954T=)
c.2381T= (p.Leu794=)
8g.54626243A>CCA370993559RP1c.2361A>C (p.Leu787Phe)
c.787+3955A>C (n.787+3955A>C)
c.2382A>C (p.Leu794Phe)
8g.54626243A>GCA461098671RP1c.2361A>G (p.Leu787=)
c.787+3955A>G (n.787+3955A>G)
c.2382A>G (p.Leu794=)
 gnomAD v4
8g.54626243A>TCA370993561RP1c.2361A>T (p.Leu787Phe)
c.787+3955A>T (n.787+3955A>T)
c.2382A>T (p.Leu794Phe)
8g.54626244G>ACA4751513RP1c.2362G>A (p.Gly788Arg)
c.787+3956G>A (n.787+3956G>A)
c.2383G>A (p.Gly795Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626244G>CCA370993565RP1c.2362G>C (p.Gly788Arg)
c.787+3956G>C (n.787+3956G>C)
c.2383G>C (p.Gly795Arg)
8g.54626244G=CA1785188227RP1c.2362G= (p.Gly788=)
c.787+3956G= (n.787+3956G=)
c.2383G= (p.Gly795=)
8g.54626244G>TCA370993563RP1c.2362G>T (p.Gly788Ter)
c.787+3956G>T (n.787+3956G>T)
c.2383G>T (p.Gly795Ter)
8g.54626245G>ACA4751515RP1c.2363G>A (p.Gly788Glu)
c.787+3957G>A (n.787+3957G>A)
c.2384G>A (p.Gly795Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626245G>CCA370993568RP1c.2363G>C (p.Gly788Ala)
c.787+3957G>C (n.787+3957G>C)
c.2384G>C (p.Gly795Ala)
 dbSNP
8g.54626245G=CA1785188228RP1c.2363G= (p.Gly788=)
c.787+3957G= (n.787+3957G=)
c.2384G= (p.Gly795=)
8g.54626245G>TCA4751514RP1c.2363G>T (p.Gly788Val)
c.787+3957G>T (n.787+3957G>T)
c.2384G>T (p.Gly795Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626246A=CA1785188229RP1c.2364A= (p.Gly788=)
c.787+3958A= (n.787+3958A=)
c.2385A= (p.Gly795=)
8g.54626246A>CCA461098676RP1c.2364A>C (p.Gly788=)
c.787+3958A>C (n.787+3958A>C)
c.2385A>C (p.Gly795=)
 ClinVar dbSNP gnomAD v4
8g.54626246A>GCA4751516RP1c.2364A>G (p.Gly788=)
c.787+3958A>G (n.787+3958A>G)
c.2385A>G (p.Gly795=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626246A>TCA461098677RP1c.2364A>T (p.Gly788=)
c.787+3958A>T (n.787+3958A>T)
c.2385A>T (p.Gly795=)
8g.54626246_54626247insCTGCA2780387016RP1c.2364_2365insCTG (p.Gly788_Ala789insLeu)
c.787+3958_787+3959insCTG (n.787+3958_787+3959insCTG)
c.2385_2386insCTG (p.Gly795_Ala796insLeu)
8g.54626247G>ACA370993572RP1c.2365G>A (p.Ala789Thr)
c.787+3959G>A (n.787+3959G>A)
c.2386G>A (p.Ala796Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.54626247G>CCA370993574RP1c.2365G>C (p.Ala789Pro)
c.787+3959G>C (n.787+3959G>C)
c.2386G>C (p.Ala796Pro)
8g.54626247G=CA1785188230RP1c.2365G= (p.Ala789=)
c.787+3959G= (n.787+3959G=)
c.2386G= (p.Ala796=)
8g.54626247G>TCA370993575RP1c.2365G>T (p.Ala789Ser)
c.787+3959G>T (n.787+3959G>T)
c.2386G>T (p.Ala796Ser)
8g.54626248C>ACA370993578RP1c.2366C>A (p.Ala789Glu)
c.787+3960C>A (n.787+3960C>A)
c.2387C>A (p.Ala796Glu)
8g.54626248C=CA1785188231RP1c.2366C= (p.Ala789=)
c.787+3960C= (n.787+3960C=)
c.2387C= (p.Ala796=)
8g.54626248C>GCA370993580RP1c.2366C>G (p.Ala789Gly)
c.787+3960C>G (n.787+3960C>G)
c.2387C>G (p.Ala796Gly)
8g.54626248C>TCA370993581RP1c.2366C>T (p.Ala789Val)
c.787+3960C>T (n.787+3960C>T)
c.2387C>T (p.Ala796Val)
 dbSNP gnomAD v4
8g.54626249A=CA1785188232RP1c.2367A= (p.Ala789=)
c.787+3961A= (n.787+3961A=)
c.2388A= (p.Ala796=)
8g.54626249A>CCA461098681RP1c.2367A>C (p.Ala789=)
c.787+3961A>C (n.787+3961A>C)
c.2388A>C (p.Ala796=)
8g.54626249A>GCA461098684RP1c.2367A>G (p.Ala789=)
c.787+3961A>G (n.787+3961A>G)
c.2388A>G (p.Ala796=)
 dbSNP gnomAD v3 gnomAD v4
8g.54626249A>TCA461098682RP1c.2367A>T (p.Ala789=)
c.787+3961A>T (n.787+3961A>T)
c.2388A>T (p.Ala796=)
8g.54626250C>ACA370993584RP1c.2368C>A (p.Pro790Thr)
c.787+3962C>A (n.787+3962C>A)
c.2389C>A (p.Pro797Thr)
 gnomAD v4
8g.54626250C>GCA370993585RP1c.2368C>G (p.Pro790Ala)
c.787+3962C>G (n.787+3962C>G)
c.2389C>G (p.Pro797Ala)
8g.54626250C>TCA370993587RP1c.2368C>T (p.Pro790Ser)
c.787+3962C>T (n.787+3962C>T)
c.2389C>T (p.Pro797Ser)
8g.54626251C>ACA370993593RP1c.2369C>A (p.Pro790His)
c.787+3963C>A (n.787+3963C>A)
c.2390C>A (p.Pro797His)
8g.54626251C>GCA370993590RP1c.2369C>G (p.Pro790Arg)
c.787+3963C>G (n.787+3963C>G)
c.2390C>G (p.Pro797Arg)
 COSMIC
8g.54626251C>TCA370993591RP1c.2369C>T (p.Pro790Leu)
c.787+3963C>T (n.787+3963C>T)
c.2390C>T (p.Pro797Leu)
 COSMIC
8g.54626252T>ACA461098688RP1c.2370T>A (p.Pro790=)
c.787+3964T>A (n.787+3964T>A)
c.2391T>A (p.Pro797=)
8g.54626252T>CCA461098689RP1c.2370T>C (p.Pro790=)
c.787+3964T>C (n.787+3964T>C)
c.2391T>C (p.Pro797=)
8g.54626252T>GCA461098690RP1c.2370T>G (p.Pro790=)
c.787+3964T>G (n.787+3964T>G)
c.2391T>G (p.Pro797=)
 gnomAD v4
8g.54626252T=CA1785188233RP1c.2370T= (p.Pro790=)
c.787+3964T= (n.787+3964T=)
c.2391T= (p.Pro797=)
8g.54626253A>CCA370993594RP1c.2371A>C (p.Lys791Gln)
c.787+3965A>C (n.787+3965A>C)
c.2392A>C (p.Lys798Gln)
8g.54626253A>GCA370993596RP1c.2371A>G (p.Lys791Glu)
c.787+3965A>G (n.787+3965A>G)
c.2392A>G (p.Lys798Glu)
 gnomAD v4
8g.54626253A>TCA370993598RP1c.2371A>T (p.Lys791Ter)
c.787+3965A>T (n.787+3965A>T)
c.2392A>T (p.Lys798Ter)
8g.54626259dupCA853263226RP1c.2377dup (p.Arg793LysfsTer8)
c.787+3971dup (n.787+3971dup)
c.2398dup (p.Arg800LysfsTer8)
 dbSNP gnomAD v3 gnomAD v4
8g.54626259delCA461098695RP1c.2377del (p.Arg793GlufsTer?)
c.787+3971del (n.787+3971del)
c.2398del (p.Arg800GlufsTer?)
 gnomAD v4 COSMIC
8g.54626254A=CA1785188234RP1c.2372A= (p.Lys791=)
c.787+3966A= (n.787+3966A=)
c.2393A= (p.Lys798=)
8g.54626254A>CCA4751517RP1c.2372A>C (p.Lys791Thr)
c.787+3966A>C (n.787+3966A>C)
c.2393A>C (p.Lys798Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626254A>GCA370993601RP1c.2372A>G (p.Lys791Arg)
c.787+3966A>G (n.787+3966A>G)
c.2393A>G (p.Lys798Arg)
8g.54626254A>TCA370993603RP1c.2372A>T (p.Lys791Ile)
c.787+3966A>T (n.787+3966A>T)
c.2393A>T (p.Lys798Ile)
8g.54626258_54626316delCA2780387017RP1c.2376_2434del (p.Arg793TyrfsTer3)
c.787+3970_787+4028del (n.787+3970_787+4028del)
c.2397_2455del (p.Arg800TyrfsTer3)
8g.54626255A>CCA370993605RP1c.2373A>C (p.Lys791Asn)
c.787+3967A>C (n.787+3967A>C)
c.2394A>C (p.Lys798Asn)
8g.54626255A>GCA461098699RP1c.2373A>G (p.Lys791=)
c.787+3967A>G (n.787+3967A>G)
c.2394A>G (p.Lys798=)
8g.54626255A>TCA370993606RP1c.2373A>T (p.Lys791Asn)
c.787+3967A>T (n.787+3967A>T)
c.2394A>T (p.Lys798Asn)
8g.54626256A=CA1785188235RP1c.2374A= (p.Lys792=)
c.787+3968A= (n.787+3968A=)
c.2395A= (p.Lys799=)
8g.54626256A>CCA370993608RP1c.2374A>C (p.Lys792Gln)
c.787+3968A>C (n.787+3968A>C)
c.2395A>C (p.Lys799Gln)
8g.54626256A>GCA370993610RP1c.2374A>G (p.Lys792Glu)
c.787+3968A>G (n.787+3968A>G)
c.2395A>G (p.Lys799Glu)
8g.54626256A>TCA370993612RP1c.2374A>T (p.Lys792Ter)
c.787+3968A>T (n.787+3968A>T)
c.2395A>T (p.Lys799Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54626257A>CCA370993618RP1c.2375A>C (p.Lys792Thr)
c.787+3969A>C (n.787+3969A>C)
c.2396A>C (p.Lys799Thr)
8g.54626257A>GCA370993616RP1c.2375A>G (p.Lys792Arg)
c.787+3969A>G (n.787+3969A>G)
c.2396A>G (p.Lys799Arg)
8g.54626257A>TCA370993614RP1c.2375A>T (p.Lys792Ile)
c.787+3969A>T (n.787+3969A>T)
c.2396A>T (p.Lys799Ile)
8g.54626258A>CCA370993620RP1c.2376A>C (p.Lys792Asn)
c.787+3970A>C (n.787+3970A>C)
c.2397A>C (p.Lys799Asn)
8g.54626258A>GCA461098704RP1c.2376A>G (p.Lys792=)
c.787+3970A>G (n.787+3970A>G)
c.2397A>G (p.Lys799=)
8g.54626258A>TCA370993621RP1c.2376A>T (p.Lys792Asn)
c.787+3970A>T (n.787+3970A>T)
c.2397A>T (p.Lys799Asn)
8g.54626259_54626261delCA2687301831RP1c.2377_2379del (p.Arg793del)
c.787+3971_787+3973del (n.787+3971_787+3973del)
c.2398_2400del (p.Arg800del)
 gnomAD v4
8g.54626259A=CA1785188236RP1c.2377A= (p.Arg793=)
c.787+3971A= (n.787+3971A=)
c.2398A= (p.Arg800=)
8g.54626259A>CCA461098705RP1c.2377A>C (p.Arg793=)
c.787+3971A>C (n.787+3971A>C)
c.2398A>C (p.Arg800=)
8g.54626259A>GCA4751518RP1c.2377A>G (p.Arg793Gly)
c.787+3971A>G (n.787+3971A>G)
c.2398A>G (p.Arg800Gly)
 ClinVar dbSNP ExAC gnomAD v2
8g.54626259A>TCA370993624RP1c.2377A>T (p.Arg793Ter)
c.787+3971A>T (n.787+3971A>T)
c.2398A>T (p.Arg800Ter)
8g.54626260G>ACA370993626RP1c.2378G>A (p.Arg793Lys)
c.787+3972G>A (n.787+3972G>A)
c.2399G>A (p.Arg800Lys)
 ClinVar
8g.54626260G>CCA370993628RP1c.2378G>C (p.Arg793Thr)
c.787+3972G>C (n.787+3972G>C)
c.2399G>C (p.Arg800Thr)
8g.54626260G>TCA370993630RP1c.2378G>T (p.Arg793Ile)
c.787+3972G>T (n.787+3972G>T)
c.2399G>T (p.Arg800Ile)
8g.54626261A>CCA370993632RP1c.2379A>C (p.Arg793Ser)
c.787+3973A>C (n.787+3973A>C)
c.2400A>C (p.Arg800Ser)
8g.54626261A>GCA461098708RP1c.2379A>G (p.Arg793=)
c.787+3973A>G (n.787+3973A>G)
c.2400A>G (p.Arg800=)
8g.54626261A>TCA370993633RP1c.2379A>T (p.Arg793Ser)
c.787+3973A>T (n.787+3973A>T)
c.2400A>T (p.Arg800Ser)
8g.54626262G>ACA4751519RP1c.2380G>A (p.Glu794Lys)
c.787+3974G>A (n.787+3974G>A)
c.2401G>A (p.Glu801Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626262G>CCA370993637RP1c.2380G>C (p.Glu794Gln)
c.787+3974G>C (n.787+3974G>C)
c.2401G>C (p.Glu801Gln)
8g.54626262G=CA1785188237RP1c.2380G= (p.Glu794=)
c.787+3974G= (n.787+3974G=)
c.2401G= (p.Glu801=)
8g.54626262G>TCA370993638RP1c.2380G>T (p.Glu794Ter)
c.787+3974G>T (n.787+3974G>T)
c.2401G>T (p.Glu801Ter)
 ClinVar
8g.54626263A=CA1785188238RP1c.2381A= (p.Glu794=)
c.787+3975A= (n.787+3975A=)
c.2402A= (p.Glu801=)
8g.54626263A>CCA370993641RP1c.2381A>C (p.Glu794Ala)
c.787+3975A>C (n.787+3975A>C)
c.2402A>C (p.Glu801Ala)
8g.54626263A>GCA177237140RP1c.2381A>G (p.Glu794Gly)
c.787+3975A>G (n.787+3975A>G)
c.2402A>G (p.Glu801Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626263A>TCA370993643RP1c.2381A>T (p.Glu794Val)
c.787+3975A>T (n.787+3975A>T)
c.2402A>T (p.Glu801Val)
8g.54626264A>CCA370993644RP1c.2382A>C (p.Glu794Asp)
c.787+3976A>C (n.787+3976A>C)
c.2403A>C (p.Glu801Asp)
8g.54626264A>GCA461098714RP1c.2382A>G (p.Glu794=)
c.787+3976A>G (n.787+3976A>G)
c.2403A>G (p.Glu801=)
 gnomAD v4
8g.54626264A>TCA370993645RP1c.2382A>T (p.Glu794Asp)
c.787+3976A>T (n.787+3976A>T)
c.2403A>T (p.Glu801Asp)
8g.54626265A>CCA370993647RP1c.2383A>C (p.Ile795Leu)
c.787+3977A>C (n.787+3977A>C)
c.2404A>C (p.Ile802Leu)
8g.54626265A>GCA370993649RP1c.2383A>G (p.Ile795Val)
c.787+3977A>G (n.787+3977A>G)
c.2404A>G (p.Ile802Val)
 dbSNP gnomAD v4
8g.54626265A>TCA370993651RP1c.2383A>T (p.Ile795Phe)
c.787+3977A>T (n.787+3977A>T)
c.2404A>T (p.Ile802Phe)
 gnomAD v4
8g.54626266T>ACA370993654RP1c.2384T>A (p.Ile795Asn)
c.787+3978T>A (n.787+3978T>A)
c.2405T>A (p.Ile802Asn)
8g.54626266T>CCA4751520RP1c.2384T>C (p.Ile795Thr)
c.787+3978T>C (n.787+3978T>C)
c.2405T>C (p.Ile802Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626266T>GCA370993657RP1c.2384T>G (p.Ile795Ser)
c.787+3978T>G (n.787+3978T>G)
c.2405T>G (p.Ile802Ser)
8g.54626266T=CA1785188239RP1c.2384T= (p.Ile795=)
c.787+3978T= (n.787+3978T=)
c.2405T= (p.Ile802=)
8g.54626267C>ACA461098721RP1c.2385C>A (p.Ile795=)
c.787+3979C>A (n.787+3979C>A)
c.2406C>A (p.Ile802=)
8g.54626267C=CA1785188240RP1c.2385C= (p.Ile795=)
c.787+3979C= (n.787+3979C=)
c.2406C= (p.Ile802=)
8g.54626267C>GCA370993659RP1c.2385C>G (p.Ile795Met)
c.787+3979C>G (n.787+3979C>G)
c.2406C>G (p.Ile802Met)
8g.54626267C>TCA4751521RP1c.2385C>T (p.Ile795=)
c.787+3979C>T (n.787+3979C>T)
c.2406C>T (p.Ile802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626268G>ACA4751522RP1c.2386G>A (p.Gly796Ser)
c.787+3980G>A (n.787+3980G>A)
c.2407G>A (p.Gly803Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626268G>CCA370993663RP1c.2386G>C (p.Gly796Arg)
c.787+3980G>C (n.787+3980G>C)
c.2407G>C (p.Gly803Arg)
8g.54626268G=CA1785188241RP1c.2386G= (p.Gly796=)
c.787+3980G= (n.787+3980G=)
c.2407G= (p.Gly803=)
8g.54626268G>TCA370993665RP1c.2386G>T (p.Gly796Cys)
c.787+3980G>T (n.787+3980G>T)
c.2407G>T (p.Gly803Cys)
8g.54626269G>ACA4751524RP1c.2387G>A (p.Gly796Asp)
c.787+3981G>A (n.787+3981G>A)
c.2408G>A (p.Gly803Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626269G>CCA370993666RP1c.2387G>C (p.Gly796Ala)
c.787+3981G>C (n.787+3981G>C)
c.2408G>C (p.Gly803Ala)
8g.54626269G=CA1785188242RP1c.2387G= (p.Gly796=)
c.787+3981G= (n.787+3981G=)
c.2408G= (p.Gly803=)
8g.54626269G>TCA4751523RP1c.2387G>T (p.Gly796Val)
c.787+3981G>T (n.787+3981G>T)
c.2408G>T (p.Gly803Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626270T>ACA461098727RP1c.2388T>A (p.Gly796=)
c.787+3982T>A (n.787+3982T>A)
c.2409T>A (p.Gly803=)
8g.54626270T>CCA461098728RP1c.2388T>C (p.Gly796=)
c.787+3982T>C (n.787+3982T>C)
c.2409T>C (p.Gly803=)
 gnomAD v4
8g.54626270T>GCA461098729RP1c.2388T>G (p.Gly796=)
c.787+3982T>G (n.787+3982T>G)
c.2409T>G (p.Gly803=)
8g.54626271C>ACA370993667RP1c.2389C>A (p.Gln797Lys)
c.787+3983C>A (n.787+3983C>A)
c.2410C>A (p.Gln804Lys)
 gnomAD v4
8g.54626271C>GCA370993668RP1c.2389C>G (p.Gln797Glu)
c.787+3983C>G (n.787+3983C>G)
c.2410C>G (p.Gln804Glu)
8g.54626271C>TCA370993669RP1c.2389C>T (p.Gln797Ter)
c.787+3983C>T (n.787+3983C>T)
c.2410C>T (p.Gln804Ter)
8g.54626271_54626273delinsCAACA1785188243RP1c.2389_2391delinsCAA (p.Gln797=)
c.787+3983_787+3985delinsCAA (n.787+3983_787+3985delinsCAA)
c.2410_2412delinsCAA (p.Gln804=)
8g.54626272A>CCA370993670RP1c.2390A>C (p.Gln797Pro)
c.787+3984A>C (n.787+3984A>C)
c.2411A>C (p.Gln804Pro)
8g.54626272A>GCA370993671RP1c.2390A>G (p.Gln797Arg)
c.787+3984A>G (n.787+3984A>G)
c.2411A>G (p.Gln804Arg)
 gnomAD v4
8g.54626272A>TCA370993672RP1c.2390A>T (p.Gln797Leu)
c.787+3984A>T (n.787+3984A>T)
c.2411A>T (p.Gln804Leu)
8g.54626273_54626274delCA582205590RP1c.2391_2392del (p.Asp799Ter)
c.787+3985_787+3986del (n.787+3985_787+3986del)
c.2412_2413del (p.Asp806Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54626273A>CCA370993673RP1c.2391A>C (p.Gln797His)
c.787+3985A>C (n.787+3985A>C)
c.2412A>C (p.Gln804His)
8g.54626273A>GCA461098735RP1c.2391A>G (p.Gln797=)
c.787+3985A>G (n.787+3985A>G)
c.2412A>G (p.Gln804=)
8g.54626273A>TCA370993674RP1c.2391A>T (p.Gln797His)
c.787+3985A>T (n.787+3985A>T)
c.2412A>T (p.Gln804His)
8g.54626274A>CCA461098737RP1c.2392A>C (p.Arg798=)
c.787+3986A>C (n.787+3986A>C)
c.2413A>C (p.Arg805=)
8g.54626274A>GCA370993675RP1c.2392A>G (p.Arg798Gly)
c.787+3986A>G (n.787+3986A>G)
c.2413A>G (p.Arg805Gly)
8g.54626274A>TCA370993676RP1c.2392A>T (p.Arg798Ter)
c.787+3986A>T (n.787+3986A>T)
c.2413A>T (p.Arg805Ter)
8g.54626275G>ACA370993677RP1c.2393G>A (p.Arg798Lys)
c.787+3987G>A (n.787+3987G>A)
c.2414G>A (p.Arg805Lys)
 COSMIC
8g.54626275G>CCA370993678RP1c.2393G>C (p.Arg798Thr)
c.787+3987G>C (n.787+3987G>C)
c.2414G>C (p.Arg805Thr)
8g.54626275G>TCA370993679RP1c.2393G>T (p.Arg798Ile)
c.787+3987G>T (n.787+3987G>T)
c.2414G>T (p.Arg805Ile)
8g.54626276A>CCA370993681RP1c.2394A>C (p.Arg798Ser)
c.787+3988A>C (n.787+3988A>C)
c.2415A>C (p.Arg805Ser)
8g.54626276A>GCA461098741RP1c.2394A>G (p.Arg798=)
c.787+3988A>G (n.787+3988A>G)
c.2415A>G (p.Arg805=)
8g.54626276A>TCA370993680RP1c.2394A>T (p.Arg798Ser)
c.787+3988A>T (n.787+3988A>T)
c.2415A>T (p.Arg805Ser)
8g.54626277G>ACA370993682RP1c.2395G>A (p.Asp799Asn)
c.787+3989G>A (n.787+3989G>A)
c.2416G>A (p.Asp806Asn)
 COSMIC
8g.54626277G>CCA370993683RP1c.2395G>C (p.Asp799His)
c.787+3989G>C (n.787+3989G>C)
c.2416G>C (p.Asp806His)
8g.54626277G=CA1785188244RP1c.2395G= (p.Asp799=)
c.787+3989G= (n.787+3989G=)
c.2416G= (p.Asp806=)
8g.54626277G>TCA370993684RP1c.2395G>T (p.Asp799Tyr)
c.787+3989G>T (n.787+3989G>T)
c.2416G>T (p.Asp806Tyr)
 dbSNP gnomAD v4
8g.54626278A>CCA370993685RP1c.2396A>C (p.Asp799Ala)
c.787+3990A>C (n.787+3990A>C)
c.2417A>C (p.Asp806Ala)
8g.54626278A>GCA370993686RP1c.2396A>G (p.Asp799Gly)
c.787+3990A>G (n.787+3990A>G)
c.2417A>G (p.Asp806Gly)
8g.54626278A>TCA370993687RP1c.2396A>T (p.Asp799Val)
c.787+3990A>T (n.787+3990A>T)
c.2417A>T (p.Asp806Val)
8g.54626279T>ACA4751525RP1c.2397T>A (p.Asp799Glu)
c.787+3991T>A (n.787+3991T>A)
c.2418T>A (p.Asp806Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626279T>CCA461098748RP1c.2397T>C (p.Asp799=)
c.787+3991T>C (n.787+3991T>C)
c.2418T>C (p.Asp806=)
8g.54626279T>GCA4751526RP1c.2397T>G (p.Asp799Glu)
c.787+3991T>G (n.787+3991T>G)
c.2418T>G (p.Asp806Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626279T=CA1785188245RP1c.2397T= (p.Asp799=)
c.787+3991T= (n.787+3991T=)
c.2418T= (p.Asp806=)
8g.54626280A>CCA370993689RP1c.2398A>C (p.Lys800Gln)
c.787+3992A>C (n.787+3992A>C)
c.2419A>C (p.Lys807Gln)
8g.54626280A>GCA370993691RP1c.2398A>G (p.Lys800Glu)
c.787+3992A>G (n.787+3992A>G)
c.2419A>G (p.Lys807Glu)
8g.54626280A>TCA370993692RP1c.2398A>T (p.Lys800Ter)
c.787+3992A>T (n.787+3992A>T)
c.2419A>T (p.Lys807Ter)
 ClinVar
8g.54626281_54626282delCA2695209285RP1c.2399_2400del (p.Lys800SerfsTer6)
c.787+3993_787+3994del (n.787+3993_787+3994del)
c.2420_2421del (p.Lys807SerfsTer6)
8g.54626281A>CCA370993693RP1c.2399A>C (p.Lys800Thr)
c.787+3993A>C (n.787+3993A>C)
c.2420A>C (p.Lys807Thr)
 gnomAD v4
8g.54626281A>GCA370993695RP1c.2399A>G (p.Lys800Arg)
c.787+3993A>G (n.787+3993A>G)
c.2420A>G (p.Lys807Arg)
8g.54626281A>TCA370993697RP1c.2399A>T (p.Lys800Ile)
c.787+3993A>T (n.787+3993A>T)
c.2420A>T (p.Lys807Ile)
8g.54626282A>CCA370993698RP1c.2400A>C (p.Lys800Asn)
c.787+3994A>C (n.787+3994A>C)
c.2421A>C (p.Lys807Asn)
8g.54626282A>GCA461098753RP1c.2400A>G (p.Lys800=)
c.787+3994A>G (n.787+3994A>G)
c.2421A>G (p.Lys807=)
8g.54626282A>TCA370993700RP1c.2400A>T (p.Lys800Asn)
c.787+3994A>T (n.787+3994A>T)
c.2421A>T (p.Lys807Asn)
8g.54626283G>ACA370993701RP1c.2401G>A (p.Val801Met)
c.787+3995G>A (n.787+3995G>A)
c.2422G>A (p.Val808Met)
 dbSNP gnomAD v3 gnomAD v4
8g.54626283G>CCA370993705RP1c.2401G>C (p.Val801Leu)
c.787+3995G>C (n.787+3995G>C)
c.2422G>C (p.Val808Leu)
8g.54626283G=CA1785188246RP1c.2401G= (p.Val801=)
c.787+3995G= (n.787+3995G=)
c.2422G= (p.Val808=)
8g.54626283G>TCA370993703RP1c.2401G>T (p.Val801Leu)
c.787+3995G>T (n.787+3995G>T)
c.2422G>T (p.Val808Leu)
8g.54626284T>ACA370993707RP1c.2402T>A (p.Val801Glu)
c.787+3996T>A (n.787+3996T>A)
c.2423T>A (p.Val808Glu)
8g.54626284T>CCA370993710RP1c.2402T>C (p.Val801Ala)
c.787+3996T>C (n.787+3996T>C)
c.2423T>C (p.Val808Ala)
 gnomAD v4
8g.54626284T>GCA370993708RP1c.2402T>G (p.Val801Gly)
c.787+3996T>G (n.787+3996T>G)
c.2423T>G (p.Val808Gly)
8g.54626285G>ACA461098756RP1c.2403G>A (p.Val801=)
c.787+3997G>A (n.787+3997G>A)
c.2424G>A (p.Val808=)
 gnomAD v3 gnomAD v4
8g.54626285G>CCA461098757RP1c.2403G>C (p.Val801=)
c.787+3997G>C (n.787+3997G>C)
c.2424G>C (p.Val808=)
8g.54626285G=CA1785188247RP1c.2403G= (p.Val801=)
c.787+3997G= (n.787+3997G=)
c.2424G= (p.Val808=)
8g.54626285G>TCA461098758RP1c.2403G>T (p.Val801=)
c.787+3997G>T (n.787+3997G>T)
c.2424G>T (p.Val808=)
 dbSNP
8g.54626286T>ACA370993712RP1c.2404T>A (p.Phe802Ile)
c.787+3998T>A (n.787+3998T>A)
c.2425T>A (p.Phe809Ile)
8g.54626286T>CCA370993714RP1c.2404T>C (p.Phe802Leu)
c.787+3998T>C (n.787+3998T>C)
c.2425T>C (p.Phe809Leu)
8g.54626286T>GCA370993715RP1c.2404T>G (p.Phe802Val)
c.787+3998T>G (n.787+3998T>G)
c.2425T>G (p.Phe809Val)
8g.54626287T>ACA370993717RP1c.2405T>A (p.Phe802Tyr)
c.787+3999T>A (n.787+3999T>A)
c.2426T>A (p.Phe809Tyr)
 gnomAD v4
8g.54626287T>CCA370993718RP1c.2405T>C (p.Phe802Ser)
c.787+3999T>C (n.787+3999T>C)
c.2426T>C (p.Phe809Ser)
 dbSNP
8g.54626287T>GCA370993720RP1c.2405T>G (p.Phe802Cys)
c.787+3999T>G (n.787+3999T>G)
c.2426T>G (p.Phe809Cys)
8g.54626288T>ACA370993722RP1c.2406T>A (p.Phe802Leu)
c.787+4000T>A (n.787+4000T>A)
c.2427T>A (p.Phe809Leu)
8g.54626288T>CCA461098760RP1c.2406T>C (p.Phe802=)
c.787+4000T>C (n.787+4000T>C)
c.2427T>C (p.Phe809=)
8g.54626288T>GCA370993723RP1c.2406T>G (p.Phe802Leu)
c.787+4000T>G (n.787+4000T>G)
c.2427T>G (p.Phe809Leu)
8g.54626289C>ACA370993726RP1c.2407C>A (p.Pro803Thr)
c.787+4001C>A (n.787+4001C>A)
c.2428C>A (p.Pro810Thr)
8g.54626289C=CA1785188248RP1c.2407C= (p.Pro803=)
c.787+4001C= (n.787+4001C=)
c.2428C= (p.Pro810=)
8g.54626289C>GCA370993727RP1c.2407C>G (p.Pro803Ala)
c.787+4001C>G (n.787+4001C>G)
c.2428C>G (p.Pro810Ala)
 dbSNP gnomAD v2
8g.54626289C>TCA370993728RP1c.2407C>T (p.Pro803Ser)
c.787+4001C>T (n.787+4001C>T)
c.2428C>T (p.Pro810Ser)
 COSMIC
8g.54626290C>ACA370993734RP1c.2408C>A (p.Pro803His)
c.787+4002C>A (n.787+4002C>A)
c.2429C>A (p.Pro810His)
8g.54626290C>GCA370993732RP1c.2408C>G (p.Pro803Arg)
c.787+4002C>G (n.787+4002C>G)
c.2429C>G (p.Pro810Arg)
8g.54626290C>TCA370993730RP1c.2408C>T (p.Pro803Leu)
c.787+4002C>T (n.787+4002C>T)
c.2429C>T (p.Pro810Leu)
 gnomAD v4
8g.54626291T>ACA461098762RP1c.2409T>A (p.Pro803=)
c.787+4003T>A (n.787+4003T>A)
c.2430T>A (p.Pro810=)
 COSMIC
8g.54626291T>CCA461098765RP1c.2409T>C (p.Pro803=)
c.787+4003T>C (n.787+4003T>C)
c.2430T>C (p.Pro810=)
8g.54626291T>GCA461098767RP1c.2409T>G (p.Pro803=)
c.787+4003T>G (n.787+4003T>G)
c.2430T>G (p.Pro810=)
8g.54626292C>ACA370993735RP1c.2410C>A (p.His804Asn)
c.787+4004C>A (n.787+4004C>A)
c.2431C>A (p.His811Asn)
8g.54626292C=CA1785188249RP1c.2410C= (p.His804=)
c.787+4004C= (n.787+4004C=)
c.2431C= (p.His811=)
8g.54626292C>GCA370993737RP1c.2410C>G (p.His804Asp)
c.787+4004C>G (n.787+4004C>G)
c.2431C>G (p.His811Asp)
8g.54626292C>TCA4751527RP1c.2410C>T (p.His804Tyr)
c.787+4004C>T (n.787+4004C>T)
c.2431C>T (p.His811Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626293A>CCA370993739RP1c.2411A>C (p.His804Pro)
c.787+4005A>C (n.787+4005A>C)
c.2432A>C (p.His811Pro)
 dbSNP
8g.54626293A>GCA370993740RP1c.2411A>G (p.His804Arg)
c.787+4005A>G (n.787+4005A>G)
c.2432A>G (p.His811Arg)
 gnomAD v4
8g.54626293A>TCA370993742RP1c.2411A>T (p.His804Leu)
c.787+4005A>T (n.787+4005A>T)
c.2432A>T (p.His811Leu)
8g.54626294C>ACA370993744RP1c.2412C>A (p.His804Gln)
c.787+4006C>A (n.787+4006C>A)
c.2433C>A (p.His811Gln)
 ClinVar
8g.54626294C>GCA370993745RP1c.2412C>G (p.His804Gln)
c.787+4006C>G (n.787+4006C>G)
c.2433C>G (p.His811Gln)
8g.54626294C>TCA461098772RP1c.2412C>T (p.His804=)
c.787+4006C>T (n.787+4006C>T)
c.2433C>T (p.His811=)
8g.54626295A=CA1785188250RP1c.2413A= (p.Asn805=)
c.787+4007A= (n.787+4007A=)
c.2434A= (p.Asn812=)
8g.54626295A>CCA370993748RP1c.2413A>C (p.Asn805His)
c.787+4007A>C (n.787+4007A>C)
c.2434A>C (p.Asn812His)
8g.54626295A>GCA4751528RP1c.2413A>G (p.Asn805Asp)
c.787+4007A>G (n.787+4007A>G)
c.2434A>G (p.Asn812Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626295A>TCA370993750RP1c.2413A>T (p.Asn805Tyr)
c.787+4007A>T (n.787+4007A>T)
c.2434A>T (p.Asn812Tyr)
8g.54626296A=CA1785188251RP1c.2414A= (p.Asn805=)
c.787+4008A= (n.787+4008A=)
c.2435A= (p.Asn812=)
8g.54626296A>CCA370993755RP1c.2414A>C (p.Asn805Thr)
c.787+4008A>C (n.787+4008A>C)
c.2435A>C (p.Asn812Thr)
8g.54626296A>GCA370993754RP1c.2414A>G (p.Asn805Ser)
c.787+4008A>G (n.787+4008A>G)
c.2435A>G (p.Asn812Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54626296A>TCA370993752RP1c.2414A>T (p.Asn805Ile)
c.787+4008A>T (n.787+4008A>T)
c.2435A>T (p.Asn812Ile)
8g.54626297T>ACA370993757RP1c.2415T>A (p.Asn805Lys)
c.787+4009T>A (n.787+4009T>A)
c.2436T>A (p.Asn812Lys)
 gnomAD v4
8g.54626297T>CCA461098773RP1c.2415T>C (p.Asn805=)
c.787+4009T>C (n.787+4009T>C)
c.2436T>C (p.Asn812=)
8g.54626297T>GCA370993759RP1c.2415T>G (p.Asn805Lys)
c.787+4009T>G (n.787+4009T>G)
c.2436T>G (p.Asn812Lys)
8g.54626298G>ACA370993761RP1c.2416G>A (p.Glu806Lys)
c.787+4010G>A (n.787+4010G>A)
c.2437G>A (p.Glu813Lys)
 COSMIC
8g.54626298G>CCA370993762RP1c.2416G>C (p.Glu806Gln)
c.787+4010G>C (n.787+4010G>C)
c.2437G>C (p.Glu813Gln)
8g.54626298G>TCA370993763RP1c.2416G>T (p.Glu806Ter)
c.787+4010G>T (n.787+4010G>T)
c.2437G>T (p.Glu813Ter)
8g.54626299A=CA1785188252RP1c.2417A= (p.Glu806=)
c.787+4011A= (n.787+4011A=)
c.2438A= (p.Glu813=)
8g.54626299A>CCA370993764RP1c.2417A>C (p.Glu806Ala)
c.787+4011A>C (n.787+4011A>C)
c.2438A>C (p.Glu813Ala)
8g.54626299A>GCA370993766RP1c.2417A>G (p.Glu806Gly)
c.787+4011A>G (n.787+4011A>G)
c.2438A>G (p.Glu813Gly)
8g.54626299A>TCA4751529RP1c.2417A>T (p.Glu806Val)
c.787+4011A>T (n.787+4011A>T)
c.2438A>T (p.Glu813Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626300A=CA1785188253RP1c.2418A= (p.Glu806=)
c.787+4012A= (n.787+4012A=)
c.2439A= (p.Glu813=)
8g.54626300A>CCA370993769RP1c.2418A>C (p.Glu806Asp)
c.787+4012A>C (n.787+4012A>C)
c.2439A>C (p.Glu813Asp)
8g.54626300A>GCA461098775RP1c.2418A>G (p.Glu806=)
c.787+4012A>G (n.787+4012A>G)
c.2439A>G (p.Glu813=)
 dbSNP gnomAD v4
8g.54626300A>TCA370993770RP1c.2418A>T (p.Glu806Asp)
c.787+4012A>T (n.787+4012A>T)
c.2439A>T (p.Glu813Asp)
8g.54626301T>ACA370993772RP1c.2419T>A (p.Ser807Thr)
c.787+4013T>A (n.787+4013T>A)
c.2440T>A (p.Ser814Thr)
8g.54626301T>CCA370993774RP1c.2419T>C (p.Ser807Pro)
c.787+4013T>C (n.787+4013T>C)
c.2440T>C (p.Ser814Pro)
8g.54626301T>GCA370993776RP1c.2419T>G (p.Ser807Ala)
c.787+4013T>G (n.787+4013T>G)
c.2440T>G (p.Ser814Ala)
8g.54626302C>ACA370993781RP1c.2420C>A (p.Ser807Tyr)
c.787+4014C>A (n.787+4014C>A)
c.2441C>A (p.Ser814Tyr)
8g.54626302C=CA1785188254RP1c.2420C= (p.Ser807=)
c.787+4014C= (n.787+4014C=)
c.2441C= (p.Ser814=)
8g.54626302C>GCA370993777RP1c.2420C>G (p.Ser807Cys)
c.787+4014C>G (n.787+4014C>G)
c.2441C>G (p.Ser814Cys)
8g.54626302C>TCA370993779RP1c.2420C>T (p.Ser807Phe)
c.787+4014C>T (n.787+4014C>T)
c.2441C>T (p.Ser814Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54626303T>ACA461098780RP1c.2421T>A (p.Ser807=)
c.787+4015T>A (n.787+4015T>A)
c.2442T>A (p.Ser814=)
8g.54626303T>CCA177237160RP1c.2421T>C (p.Ser807=)
c.787+4015T>C (n.787+4015T>C)
c.2442T>C (p.Ser814=)
 dbSNP
8g.54626303T>GCA461098781RP1c.2421T>G (p.Ser807=)
c.787+4015T>G (n.787+4015T>G)
c.2442T>G (p.Ser814=)
8g.54626303T=CA1785188255RP1c.2421T= (p.Ser807=)
c.787+4015T= (n.787+4015T=)
c.2442T= (p.Ser814=)
8g.54626304A=CA1785188256RP1c.2422A= (p.Lys808=)
c.787+4016A= (n.787+4016A=)
c.2443A= (p.Lys815=)
8g.54626304A>CCA370993783RP1c.2422A>C (p.Lys808Gln)
c.787+4016A>C (n.787+4016A>C)
c.2443A>C (p.Lys815Gln)
8g.54626304A>GCA370993784RP1c.2422A>G (p.Lys808Glu)
c.787+4016A>G (n.787+4016A>G)
c.2443A>G (p.Lys815Glu)
8g.54626304A>TCA370993786RP1c.2422A>T (p.Lys808Ter)
c.787+4016A>T (n.787+4016A>T)
c.2443A>T (p.Lys815Ter)
 dbSNP
8g.54626305A>CCA370993787RP1c.2423A>C (p.Lys808Thr)
c.787+4017A>C (n.787+4017A>C)
c.2444A>C (p.Lys815Thr)
8g.54626305A>GCA370993789RP1c.2423A>G (p.Lys808Arg)
c.787+4017A>G (n.787+4017A>G)
c.2444A>G (p.Lys815Arg)
8g.54626305A>TCA370993790RP1c.2423A>T (p.Lys808Ile)
c.787+4017A>T (n.787+4017A>T)
c.2444A>T (p.Lys815Ile)
8g.54626306A>CCA370993791RP1c.2424A>C (p.Lys808Asn)
c.787+4018A>C (n.787+4018A>C)
c.2445A>C (p.Lys815Asn)
8g.54626306A>GCA461098784RP1c.2424A>G (p.Lys808=)
c.787+4018A>G (n.787+4018A>G)
c.2445A>G (p.Lys815=)
8g.54626306A>TCA370993792RP1c.2424A>T (p.Lys808Asn)
c.787+4018A>T (n.787+4018A>T)
c.2445A>T (p.Lys815Asn)
8g.54626307T>ACA370993793RP1c.2425T>A (p.Tyr809Asn)
c.787+4019T>A (n.787+4019T>A)
c.2446T>A (p.Tyr816Asn)
8g.54626307T>CCA370993795RP1c.2425T>C (p.Tyr809His)
c.787+4019T>C (n.787+4019T>C)
c.2446T>C (p.Tyr816His)
8g.54626307T>GCA370993797RP1c.2425T>G (p.Tyr809Asp)
c.787+4019T>G (n.787+4019T>G)
c.2446T>G (p.Tyr816Asp)
8g.54626308A>CCA370993802RP1c.2426A>C (p.Tyr809Ser)
c.787+4020A>C (n.787+4020A>C)
c.2447A>C (p.Tyr816Ser)
8g.54626308A>GCA370993800RP1c.2426A>G (p.Tyr809Cys)
c.787+4020A>G (n.787+4020A>G)
c.2447A>G (p.Tyr816Cys)
 gnomAD v4
8g.54626308A>TCA370993799RP1c.2426A>T (p.Tyr809Phe)
c.787+4020A>T (n.787+4020A>T)
c.2447A>T (p.Tyr816Phe)
8g.54626309T>ACA370993804RP1c.2427T>A (p.Tyr809Ter)
c.787+4021T>A (n.787+4021T>A)
c.2448T>A (p.Tyr816Ter)
8g.54626309T>CCA4751530RP1c.2427T>C (p.Tyr809=)
c.787+4021T>C (n.787+4021T>C)
c.2448T>C (p.Tyr816=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626309T>GCA370993806RP1c.2427T>G (p.Tyr809Ter)
c.787+4021T>G (n.787+4021T>G)
c.2448T>G (p.Tyr816Ter)
8g.54626309T=CA1785188257RP1c.2427T= (p.Tyr809=)
c.787+4021T= (n.787+4021T=)
c.2448T= (p.Tyr816=)
8g.54626310T>ACA370993807RP1c.2428T>A (p.Cys810Ser)
c.787+4022T>A (n.787+4022T>A)
c.2449T>A (p.Cys817Ser)
8g.54626310T>CCA370993809RP1c.2428T>C (p.Cys810Arg)
c.787+4022T>C (n.787+4022T>C)
c.2449T>C (p.Cys817Arg)
8g.54626310T>GCA370993811RP1c.2428T>G (p.Cys810Gly)
c.787+4022T>G (n.787+4022T>G)
c.2449T>G (p.Cys817Gly)
8g.54626310T=CA1785188258RP1c.2428T= (p.Cys810=)
c.787+4022T= (n.787+4022T=)
c.2449T= (p.Cys817=)
8g.54626311G>ACA370993815RP1c.2429G>A (p.Cys810Tyr)
c.787+4023G>A (n.787+4023G>A)
c.2450G>A (p.Cys817Tyr)
 dbSNP gnomAD v4
8g.54626311G>CCA370993812RP1c.2429G>C (p.Cys810Ser)
c.787+4023G>C (n.787+4023G>C)
c.2450G>C (p.Cys817Ser)
8g.54626311G=CA1785188259RP1c.2429G= (p.Cys810=)
c.787+4023G= (n.787+4023G=)
c.2450G= (p.Cys817=)
8g.54626311G>TCA370993814RP1c.2429G>T (p.Cys810Phe)
c.787+4023G>T (n.787+4023G>T)
c.2450G>T (p.Cys817Phe)
8g.54626311_54626328dupCA1785188260RP1c.2429_2446dup (p.Glu815_Asn816insSerLysSerThrPheGlu)
c.787+4023_787+4040dup (n.787+4023_787+4040dup)
c.2450_2467dup (p.Glu822_Asn823insSerLysSerThrPheGlu)
 dbSNP

Number of alleles fetched