Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128361692_128361724dupCA1081368193FBN2c.2554_2554+32dup
c.2455_2455+32dup
c.2551_2551+32dup
c.2401_2401+32dup
 gnomAD v3 gnomAD v4
5g.128361695C>ACA1581284159FBN2c.2554+28G>T (n.2554+28G>T)
c.2455+28G>T (n.2455+28G>T)
c.2551+28G>T (n.2551+28G>T)
c.2401+28G>T (n.2401+28G>T)
 dbSNP gnomAD v4
5g.128361695C=CA1581284158FBN2c.2554+28G= (n.2554+28G=)
c.2455+28G= (n.2455+28G=)
c.2551+28G= (n.2551+28G=)
c.2401+28G= (n.2401+28G=)
5g.128361698A=CA1581284160FBN2c.2554+25T= (n.2554+25T=)
c.2455+25T= (n.2455+25T=)
c.2551+25T= (n.2551+25T=)
c.2401+25T= (n.2401+25T=)
5g.128361698A>GCA3395513FBN2c.2554+25T>C (n.2554+25T>C)
c.2455+25T>C (n.2455+25T>C)
c.2551+25T>C (n.2551+25T>C)
c.2401+25T>C (n.2401+25T>C)
 dbSNP ExAC gnomAD v2
5g.128361699T>CCA2675118879FBN2c.2554+24A>G (n.2554+24A>G)
c.2455+24A>G (n.2455+24A>G)
c.2551+24A>G (n.2551+24A>G)
c.2401+24A>G (n.2401+24A>G)
 gnomAD v4
5g.128361702G>ACA562717796FBN2c.2554+21C>T (n.2554+21C>T)
c.2455+21C>T (n.2455+21C>T)
c.2551+21C>T (n.2551+21C>T)
c.2401+21C>T (n.2401+21C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128361702G=CA1581284161FBN2c.2554+21C= (n.2554+21C=)
c.2455+21C= (n.2455+21C=)
c.2551+21C= (n.2551+21C=)
c.2401+21C= (n.2401+21C=)
5g.128361703G>ACA3395514FBN2c.2554+20C>T (n.2554+20C>T)
c.2455+20C>T (n.2455+20C>T)
c.2551+20C>T (n.2551+20C>T)
c.2401+20C>T (n.2401+20C>T)
 dbSNP ExAC
5g.128361703G=CA1581284162FBN2c.2554+20C= (n.2554+20C=)
c.2455+20C= (n.2455+20C=)
c.2551+20C= (n.2551+20C=)
c.2401+20C= (n.2401+20C=)
5g.128361704C=CA1581284163FBN2c.2554+19G= (n.2554+19G=)
c.2455+19G= (n.2455+19G=)
c.2551+19G= (n.2551+19G=)
c.2401+19G= (n.2401+19G=)
5g.128361704C>TCA3395515FBN2c.2554+19G>A (n.2554+19G>A)
c.2455+19G>A (n.2455+19G>A)
c.2551+19G>A (n.2551+19G>A)
c.2401+19G>A (n.2401+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361705G>ACA3395516FBN2c.2554+18C>T (n.2554+18C>T)
c.2455+18C>T (n.2455+18C>T)
c.2551+18C>T (n.2551+18C>T)
c.2401+18C>T (n.2401+18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361705G=CA1581284164FBN2c.2554+18C= (n.2554+18C=)
c.2455+18C= (n.2455+18C=)
c.2551+18C= (n.2551+18C=)
c.2401+18C= (n.2401+18C=)
5g.128361705G>TCA2578396504FBN2c.2554+18C>A (n.2554+18C>A)
c.2455+18C>A (n.2455+18C>A)
c.2551+18C>A (n.2551+18C>A)
c.2401+18C>A (n.2401+18C>A)
5g.128361706A=CA1581284165FBN2c.2554+17T= (n.2554+17T=)
c.2455+17T= (n.2455+17T=)
c.2551+17T= (n.2551+17T=)
c.2401+17T= (n.2401+17T=)
5g.128361706A>GCA3395517FBN2c.2554+17T>C (n.2554+17T>C)
c.2455+17T>C (n.2455+17T>C)
c.2551+17T>C (n.2551+17T>C)
c.2401+17T>C (n.2401+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361706A>TCA2675118880FBN2c.2554+17T>A (n.2554+17T>A)
c.2455+17T>A (n.2455+17T>A)
c.2551+17T>A (n.2551+17T>A)
c.2401+17T>A (n.2401+17T>A)
 gnomAD v4
5g.128361707T>ACA3395518FBN2c.2554+16A>T (n.2554+16A>T)
c.2455+16A>T (n.2455+16A>T)
c.2551+16A>T (n.2551+16A>T)
c.2401+16A>T (n.2401+16A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361707T>CCA2675118881FBN2c.2554+16A>G (n.2554+16A>G)
c.2455+16A>G (n.2455+16A>G)
c.2551+16A>G (n.2551+16A>G)
c.2401+16A>G (n.2401+16A>G)
 gnomAD v4
5g.128361707T=CA1581284166FBN2c.2554+16A= (n.2554+16A=)
c.2455+16A= (n.2455+16A=)
c.2551+16A= (n.2551+16A=)
c.2401+16A= (n.2401+16A=)
5g.128361708G>ACA2675118882FBN2c.2554+15C>T (n.2554+15C>T)
c.2455+15C>T (n.2455+15C>T)
c.2551+15C>T (n.2551+15C>T)
c.2401+15C>T (n.2401+15C>T)
 gnomAD v4
5g.128361710A>GCA2675118883FBN2c.2554+13T>C (n.2554+13T>C)
c.2455+13T>C (n.2455+13T>C)
c.2551+13T>C (n.2551+13T>C)
c.2401+13T>C (n.2401+13T>C)
 gnomAD v4
5g.128361712A>GCA2675118884FBN2c.2554+11T>C (n.2554+11T>C)
c.2455+11T>C (n.2455+11T>C)
c.2551+11T>C (n.2551+11T>C)
c.2401+11T>C (n.2401+11T>C)
 gnomAD v4
5g.128361713C=CA1581284167FBN2c.2554+10G= (n.2554+10G=)
c.2455+10G= (n.2455+10G=)
c.2551+10G= (n.2551+10G=)
c.2401+10G= (n.2401+10G=)
5g.128361713C>GCA2675118886FBN2c.2554+10G>C (n.2554+10G>C)
c.2455+10G>C (n.2455+10G>C)
c.2551+10G>C (n.2551+10G>C)
c.2401+10G>C (n.2401+10G>C)
 gnomAD v4
5g.128361713C>TCA1081368200FBN2c.2554+10G>A (n.2554+10G>A)
c.2455+10G>A (n.2455+10G>A)
c.2551+10G>A (n.2551+10G>A)
c.2401+10G>A (n.2401+10G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128361714_128361718dupCA2675118885FBN2c.2554+6_2554+10dup (n.2554+6_2554+10dup)
c.2455+6_2455+10dup (n.2455+6_2455+10dup)
c.2551+6_2551+10dup (n.2551+6_2551+10dup)
c.2401+6_2401+10dup (n.2401+6_2401+10dup)
 gnomAD v4
5g.128361714A>CCA2549691578FBN2c.2554+9T>G (n.2554+9T>G)
c.2455+9T>G (n.2455+9T>G)
c.2551+9T>G (n.2551+9T>G)
c.2401+9T>G (n.2401+9T>G)
5g.128361716C=CA1581284168FBN2c.2554+7G= (n.2554+7G=)
c.2455+7G= (n.2455+7G=)
c.2551+7G= (n.2551+7G=)
c.2401+7G= (n.2401+7G=)
5g.128361716C>TCA3395519FBN2c.2554+7G>A (n.2554+7G>A)
c.2455+7G>A (n.2455+7G>A)
c.2551+7G>A (n.2551+7G>A)
c.2401+7G>A (n.2401+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361717T>CCA127029906FBN2c.2554+6A>G (n.2554+6A>G)
c.2455+6A>G (n.2455+6A>G)
c.2551+6A>G (n.2551+6A>G)
c.2401+6A>G (n.2401+6A>G)
 dbSNP gnomAD v4
5g.128361717T=CA1581284169FBN2c.2554+6A= (n.2554+6A=)
c.2455+6A= (n.2455+6A=)
c.2551+6A= (n.2551+6A=)
c.2401+6A= (n.2401+6A=)
5g.128361718C>ACA2573139025FBN2c.2554+5G>T (n.2554+5G>T)
c.2455+5G>T (n.2455+5G>T)
c.2551+5G>T (n.2551+5G>T)
c.2401+5G>T (n.2401+5G>T)
 ClinVar dbSNP gnomAD v4
5g.128361721A>CCA360767887FBN2c.2554+2T>G (n.2554+2T>G)
c.2455+2T>G (n.2455+2T>G)
c.2551+2T>G (n.2551+2T>G)
c.2401+2T>G (n.2401+2T>G)
5g.128361721A>GCA360767889FBN2c.2554+2T>C (n.2554+2T>C)
c.2455+2T>C (n.2455+2T>C)
c.2551+2T>C (n.2551+2T>C)
c.2401+2T>C (n.2401+2T>C)
5g.128361721A>TCA360767891FBN2c.2554+2T>A (n.2554+2T>A)
c.2455+2T>A (n.2455+2T>A)
c.2551+2T>A (n.2551+2T>A)
c.2401+2T>A (n.2401+2T>A)
5g.128361721dupCA2675118887FBN2c.2554+2dup (n.2554+2dup)
c.2455+2dup (n.2455+2dup)
c.2551+2dup (n.2551+2dup)
c.2401+2dup (n.2401+2dup)
 gnomAD v4
5g.128361722C>ACA360767893FBN2c.2554+1G>T (n.2554+1G>T)
c.2455+1G>T (n.2455+1G>T)
c.2551+1G>T (n.2551+1G>T)
c.2401+1G>T (n.2401+1G>T)
5g.128361722C>GCA360767895FBN2c.2554+1G>C (n.2554+1G>C)
c.2455+1G>C (n.2455+1G>C)
c.2551+1G>C (n.2551+1G>C)
c.2401+1G>C (n.2401+1G>C)
5g.128361722C>TCA360767896FBN2c.2554+1G>A (n.2554+1G>A)
c.2455+1G>A (n.2455+1G>A)
c.2551+1G>A (n.2551+1G>A)
c.2401+1G>A (n.2401+1G>A)
5g.128361723C>ACA360767899FBN2c.2554G>T (p.Asp852Tyr)
c.2455G>T (p.Asp819Tyr)
c.2551G>T (p.Asp851Tyr)
c.2401G>T (p.Asp801Tyr)
5g.128361723C=CA1581284170FBN2c.2554G= (p.Asp852=)
c.2455G= (p.Asp819=)
c.2551G= (p.Asp851=)
c.2401G= (p.Asp801=)
5g.128361723C>GCA360767902FBN2c.2554G>C (p.Asp852His)
c.2455G>C (p.Asp819His)
c.2551G>C (p.Asp851His)
c.2401G>C (p.Asp801His)
5g.128361723C>TCA360767900FBN2c.2554G>A (p.Asp852Asn)
c.2455G>A (p.Asp819Asn)
c.2551G>A (p.Asp851Asn)
c.2401G>A (p.Asp801Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.128361724T>ACA360767904FBN2c.2553A>T (p.Glu851Asp)
c.2454A>T (p.Glu818Asp)
c.2550A>T (p.Glu850Asp)
c.2400A>T (p.Glu800Asp)
5g.128361724T>CCA446312373FBN2c.2553A>G (p.Glu851=)
c.2454A>G (p.Glu818=)
c.2550A>G (p.Glu850=)
c.2400A>G (p.Glu800=)
5g.128361724T>GCA360767905FBN2c.2553A>C (p.Glu851Asp)
c.2454A>C (p.Glu818Asp)
c.2550A>C (p.Glu850Asp)
c.2400A>C (p.Glu800Asp)
5g.128361725T>ACA360767908FBN2c.2552A>T (p.Glu851Val)
c.2453A>T (p.Glu818Val)
c.2549A>T (p.Glu850Val)
c.2399A>T (p.Glu800Val)
5g.128361725T>CCA3395520FBN2c.2552A>G (p.Glu851Gly)
c.2453A>G (p.Glu818Gly)
c.2549A>G (p.Glu850Gly)
c.2399A>G (p.Glu800Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361725T>GCA360767909FBN2c.2552A>C (p.Glu851Ala)
c.2453A>C (p.Glu818Ala)
c.2549A>C (p.Glu850Ala)
c.2399A>C (p.Glu800Ala)
5g.128361725T=CA1581284171FBN2c.2552A= (p.Glu851=)
c.2453A= (p.Glu818=)
c.2549A= (p.Glu850=)
c.2399A= (p.Glu800=)
5g.128361726C>ACA360767910FBN2c.2551G>T (p.Glu851Ter)
c.2452G>T (p.Glu818Ter)
c.2548G>T (p.Glu850Ter)
c.2398G>T (p.Glu800Ter)
5g.128361726C>GCA360767911FBN2c.2551G>C (p.Glu851Gln)
c.2452G>C (p.Glu818Gln)
c.2548G>C (p.Glu850Gln)
c.2398G>C (p.Glu800Gln)
5g.128361726C>TCA360767912FBN2c.2551G>A (p.Glu851Lys)
c.2452G>A (p.Glu818Lys)
c.2548G>A (p.Glu850Lys)
c.2398G>A (p.Glu800Lys)
5g.128361727A>CCA360767913FBN2c.2550T>G (p.Cys850Trp)
c.2451T>G (p.Cys817Trp)
c.2547T>G (p.Cys849Trp)
c.2397T>G (p.Cys799Trp)
5g.128361727A>GCA446312374FBN2c.2550T>C (p.Cys850=)
c.2451T>C (p.Cys817=)
c.2547T>C (p.Cys849=)
c.2397T>C (p.Cys799=)
5g.128361727A>TCA360767914FBN2c.2550T>A (p.Cys850Ter)
c.2451T>A (p.Cys817Ter)
c.2547T>A (p.Cys849Ter)
c.2397T>A (p.Cys799Ter)
5g.128361728C>ACA360767915FBN2c.2549G>T (p.Cys850Phe)
c.2450G>T (p.Cys817Phe)
c.2546G>T (p.Cys849Phe)
c.2396G>T (p.Cys799Phe)
5g.128361728C>GCA360767916FBN2c.2549G>C (p.Cys850Ser)
c.2450G>C (p.Cys817Ser)
c.2546G>C (p.Cys849Ser)
c.2396G>C (p.Cys799Ser)
5g.128361728C>TCA360767917FBN2c.2549G>A (p.Cys850Tyr)
c.2450G>A (p.Cys817Tyr)
c.2546G>A (p.Cys849Tyr)
c.2396G>A (p.Cys799Tyr)
5g.128361729A>CCA360767920FBN2c.2548T>G (p.Cys850Gly)
c.2449T>G (p.Cys817Gly)
c.2545T>G (p.Cys849Gly)
c.2395T>G (p.Cys799Gly)
5g.128361729A>GCA360767918FBN2c.2548T>C (p.Cys850Arg)
c.2449T>C (p.Cys817Arg)
c.2545T>C (p.Cys849Arg)
c.2395T>C (p.Cys799Arg)
5g.128361729A>TCA360767919FBN2c.2548T>A (p.Cys850Ser)
c.2449T>A (p.Cys817Ser)
c.2545T>A (p.Cys849Ser)
c.2395T>A (p.Cys799Ser)
5g.128361730G>ACA3395521FBN2c.2547C>T (p.Thr849=)
c.2448C>T (p.Thr816=)
c.2544C>T (p.Thr848=)
c.2394C>T (p.Thr798=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361730G>CCA446312375FBN2c.2547C>G (p.Thr849=)
c.2448C>G (p.Thr816=)
c.2544C>G (p.Thr848=)
c.2394C>G (p.Thr798=)
5g.128361730G=CA1581284172FBN2c.2547C= (p.Thr849=)
c.2448C= (p.Thr816=)
c.2544C= (p.Thr848=)
c.2394C= (p.Thr798=)
5g.128361730G>TCA446312376FBN2c.2547C>A (p.Thr849=)
c.2448C>A (p.Thr816=)
c.2544C>A (p.Thr848=)
c.2394C>A (p.Thr798=)
5g.128361731G>ACA360767921FBN2c.2546C>T (p.Thr849Ile)
c.2447C>T (p.Thr816Ile)
c.2543C>T (p.Thr848Ile)
c.2393C>T (p.Thr798Ile)
 dbSNP
5g.128361731G>CCA360767922FBN2c.2546C>G (p.Thr849Ser)
c.2447C>G (p.Thr816Ser)
c.2543C>G (p.Thr848Ser)
c.2393C>G (p.Thr798Ser)
5g.128361731G=CA1581284173FBN2c.2546C= (p.Thr849=)
c.2447C= (p.Thr816=)
c.2543C= (p.Thr848=)
c.2393C= (p.Thr798=)
5g.128361731G>TCA360767923FBN2c.2546C>A (p.Thr849Asn)
c.2447C>A (p.Thr816Asn)
c.2543C>A (p.Thr848Asn)
c.2393C>A (p.Thr798Asn)
 gnomAD v4
5g.128361732T>ACA360767924FBN2c.2545A>T (p.Thr849Ser)
c.2446A>T (p.Thr816Ser)
c.2542A>T (p.Thr848Ser)
c.2392A>T (p.Thr798Ser)
5g.128361732T>CCA360767925FBN2c.2545A>G (p.Thr849Ala)
c.2446A>G (p.Thr816Ala)
c.2542A>G (p.Thr848Ala)
c.2392A>G (p.Thr798Ala)
 dbSNP
5g.128361732T>GCA360767926FBN2c.2545A>C (p.Thr849Pro)
c.2446A>C (p.Thr816Pro)
c.2542A>C (p.Thr848Pro)
c.2392A>C (p.Thr798Pro)
5g.128361732T=CA1581284174FBN2c.2545A= (p.Thr849=)
c.2446A= (p.Thr816=)
c.2542A= (p.Thr848=)
c.2392A= (p.Thr798=)
5g.128361733C>ACA360767927FBN2c.2544G>T (p.Glu848Asp)
c.2445G>T (p.Glu815Asp)
c.2541G>T (p.Glu847Asp)
c.2391G>T (p.Glu797Asp)
5g.128361733C>GCA360767928FBN2c.2544G>C (p.Glu848Asp)
c.2445G>C (p.Glu815Asp)
c.2541G>C (p.Glu847Asp)
c.2391G>C (p.Glu797Asp)
5g.128361733C>TCA446312377FBN2c.2544G>A (p.Glu848=)
c.2445G>A (p.Glu815=)
c.2541G>A (p.Glu847=)
c.2391G>A (p.Glu797=)
 COSMIC COSMIC
5g.128361734T>ACA360767929FBN2c.2543A>T (p.Glu848Val)
c.2444A>T (p.Glu815Val)
c.2540A>T (p.Glu847Val)
c.2390A>T (p.Glu797Val)
5g.128361734T>CCA360767930FBN2c.2543A>G (p.Glu848Gly)
c.2444A>G (p.Glu815Gly)
c.2540A>G (p.Glu847Gly)
c.2390A>G (p.Glu797Gly)
5g.128361734T>GCA360767931FBN2c.2543A>C (p.Glu848Ala)
c.2444A>C (p.Glu815Ala)
c.2540A>C (p.Glu847Ala)
c.2390A>C (p.Glu797Ala)
5g.128361735C>ACA360767932FBN2c.2542G>T (p.Glu848Ter)
c.2443G>T (p.Glu815Ter)
c.2539G>T (p.Glu847Ter)
c.2389G>T (p.Glu797Ter)
 dbSNP gnomAD v2
5g.128361735C=CA1581284175FBN2c.2542G= (p.Glu848=)
c.2443G= (p.Glu815=)
c.2539G= (p.Glu847=)
c.2389G= (p.Glu797=)
5g.128361735C>GCA360767934FBN2c.2542G>C (p.Glu848Gln)
c.2443G>C (p.Glu815Gln)
c.2539G>C (p.Glu847Gln)
c.2389G>C (p.Glu797Gln)
5g.128361735C>TCA360767933FBN2c.2542G>A (p.Glu848Lys)
c.2443G>A (p.Glu815Lys)
c.2539G>A (p.Glu847Lys)
c.2389G>A (p.Glu797Lys)
5g.128361736T>ACA446312378FBN2c.2541A>T (p.Thr847=)
c.2442A>T (p.Thr814=)
c.2538A>T (p.Thr846=)
c.2388A>T (p.Thr796=)
5g.128361736T>CCA446312379FBN2c.2541A>G (p.Thr847=)
c.2442A>G (p.Thr814=)
c.2538A>G (p.Thr846=)
c.2388A>G (p.Thr796=)
 gnomAD v4
5g.128361736T>GCA446312380FBN2c.2541A>C (p.Thr847=)
c.2442A>C (p.Thr814=)
c.2538A>C (p.Thr846=)
c.2388A>C (p.Thr796=)
5g.128361737G>ACA360767935FBN2c.2540C>T (p.Thr847Ile)
c.2441C>T (p.Thr814Ile)
c.2537C>T (p.Thr846Ile)
c.2387C>T (p.Thr796Ile)
 gnomAD v4
5g.128361737G>CCA360767936FBN2c.2540C>G (p.Thr847Arg)
c.2441C>G (p.Thr814Arg)
c.2537C>G (p.Thr846Arg)
c.2387C>G (p.Thr796Arg)
5g.128361737G>TCA360767937FBN2c.2540C>A (p.Thr847Lys)
c.2441C>A (p.Thr814Lys)
c.2537C>A (p.Thr846Lys)
c.2387C>A (p.Thr796Lys)
 gnomAD v4
5g.128361738T>ACA360767938FBN2c.2539A>T (p.Thr847Ser)
c.2440A>T (p.Thr814Ser)
c.2536A>T (p.Thr846Ser)
c.2386A>T (p.Thr796Ser)
5g.128361738T>CCA10582359FBN2c.2539A>G (p.Thr847Ala)
c.2440A>G (p.Thr814Ala)
c.2536A>G (p.Thr846Ala)
c.2386A>G (p.Thr796Ala)
 ClinVar dbSNP
5g.128361738T>GCA360767939FBN2c.2539A>C (p.Thr847Pro)
c.2440A>C (p.Thr814Pro)
c.2536A>C (p.Thr846Pro)
c.2386A>C (p.Thr796Pro)
5g.128361738T=CA1581284176FBN2c.2539A= (p.Thr847=)
c.2440A= (p.Thr814=)
c.2536A= (p.Thr846=)
c.2386A= (p.Thr796=)
5g.128361739C>ACA360767941FBN2c.2538G>T (p.Glu846Asp)
c.2439G>T (p.Glu813Asp)
c.2535G>T (p.Glu845Asp)
c.2385G>T (p.Glu795Asp)
5g.128361739C>GCA360767940FBN2c.2538G>C (p.Glu846Asp)
c.2439G>C (p.Glu813Asp)
c.2535G>C (p.Glu845Asp)
c.2385G>C (p.Glu795Asp)
5g.128361739C>TCA446312381FBN2c.2538G>A (p.Glu846=)
c.2439G>A (p.Glu813=)
c.2535G>A (p.Glu845=)
c.2385G>A (p.Glu795=)
 ClinVar gnomAD v4
5g.128361740T>ACA360767942FBN2c.2537A>T (p.Glu846Val)
c.2438A>T (p.Glu813Val)
c.2534A>T (p.Glu845Val)
c.2384A>T (p.Glu795Val)
5g.128361740T>CCA360767943FBN2c.2537A>G (p.Glu846Gly)
c.2438A>G (p.Glu813Gly)
c.2534A>G (p.Glu845Gly)
c.2384A>G (p.Glu795Gly)
5g.128361740T>GCA360767944FBN2c.2537A>C (p.Glu846Ala)
c.2438A>C (p.Glu813Ala)
c.2534A>C (p.Glu845Ala)
c.2384A>C (p.Glu795Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.128361740T=CA1581284177FBN2c.2537A= (p.Glu846=)
c.2438A= (p.Glu813=)
c.2534A= (p.Glu845=)
c.2384A= (p.Glu795=)
5g.128361741C>ACA360767945FBN2c.2536G>T (p.Glu846Ter)
c.2437G>T (p.Glu813Ter)
c.2533G>T (p.Glu845Ter)
c.2383G>T (p.Glu795Ter)
5g.128361741C=CA1581284178FBN2c.2536G= (p.Glu846=)
c.2437G= (p.Glu813=)
c.2533G= (p.Glu845=)
c.2383G= (p.Glu795=)
5g.128361741C>GCA360767946FBN2c.2536G>C (p.Glu846Gln)
c.2437G>C (p.Glu813Gln)
c.2533G>C (p.Glu845Gln)
c.2383G>C (p.Glu795Gln)
 gnomAD v4
5g.128361741C>TCA321237FBN2c.2536G>A (p.Glu846Lys)
c.2437G>A (p.Glu813Lys)
c.2533G>A (p.Glu845Lys)
c.2383G>A (p.Glu795Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361742A=CA1581284179FBN2c.2535T= (p.Thr845=)
c.2436T= (p.Thr812=)
c.2532T= (p.Thr844=)
c.2382T= (p.Thr794=)
5g.128361742A>CCA446312382FBN2c.2535T>G (p.Thr845=)
c.2436T>G (p.Thr812=)
c.2532T>G (p.Thr844=)
c.2382T>G (p.Thr794=)
 dbSNP gnomAD v2
5g.128361742A>GCA446312384FBN2c.2535T>C (p.Thr845=)
c.2436T>C (p.Thr812=)
c.2532T>C (p.Thr844=)
c.2382T>C (p.Thr794=)
 dbSNP gnomAD v4
5g.128361742A>TCA446312383FBN2c.2535T>A (p.Thr845=)
c.2436T>A (p.Thr812=)
c.2532T>A (p.Thr844=)
c.2382T>A (p.Thr794=)
5g.128361743G>ACA360767949FBN2c.2534C>T (p.Thr845Ile)
c.2435C>T (p.Thr812Ile)
c.2531C>T (p.Thr844Ile)
c.2381C>T (p.Thr794Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.128361743G>CCA360767947FBN2c.2534C>G (p.Thr845Ser)
c.2435C>G (p.Thr812Ser)
c.2531C>G (p.Thr844Ser)
c.2381C>G (p.Thr794Ser)
5g.128361743G=CA1581284180FBN2c.2534C= (p.Thr845=)
c.2435C= (p.Thr812=)
c.2531C= (p.Thr844=)
c.2381C= (p.Thr794=)
5g.128361743G>TCA360767948FBN2c.2534C>A (p.Thr845Asn)
c.2435C>A (p.Thr812Asn)
c.2531C>A (p.Thr844Asn)
c.2381C>A (p.Thr794Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.128361744T>ACA360767950FBN2c.2533A>T (p.Thr845Ser)
c.2434A>T (p.Thr812Ser)
c.2530A>T (p.Thr844Ser)
c.2380A>T (p.Thr794Ser)
5g.128361744T>CCA360767951FBN2c.2533A>G (p.Thr845Ala)
c.2434A>G (p.Thr812Ala)
c.2530A>G (p.Thr844Ala)
c.2380A>G (p.Thr794Ala)
5g.128361744T>GCA3395522FBN2c.2533A>C (p.Thr845Pro)
c.2434A>C (p.Thr812Pro)
c.2530A>C (p.Thr844Pro)
c.2380A>C (p.Thr794Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361744T=CA1581284181FBN2c.2533A= (p.Thr845=)
c.2434A= (p.Thr812=)
c.2530A= (p.Thr844=)
c.2380A= (p.Thr794=)
5g.128361745C>ACA360767952FBN2c.2532G>T (p.Arg844Ser)
c.2433G>T (p.Arg811Ser)
c.2529G>T (p.Arg843Ser)
c.2379G>T (p.Arg793Ser)
5g.128361745C=CA1581284182FBN2c.2532G= (p.Arg844=)
c.2433G= (p.Arg811=)
c.2529G= (p.Arg843=)
c.2379G= (p.Arg793=)
5g.128361745C>GCA360767953FBN2c.2532G>C (p.Arg844Ser)
c.2433G>C (p.Arg811Ser)
c.2529G>C (p.Arg843Ser)
c.2379G>C (p.Arg793Ser)
5g.128361745C>TCA3395523FBN2c.2532G>A (p.Arg844=)
c.2433G>A (p.Arg811=)
c.2529G>A (p.Arg843=)
c.2379G>A (p.Arg793=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361746C>ACA360767954FBN2c.2531G>T (p.Arg844Met)
c.2432G>T (p.Arg811Met)
c.2528G>T (p.Arg843Met)
c.2378G>T (p.Arg793Met)
5g.128361746C>GCA360767955FBN2c.2531G>C (p.Arg844Thr)
c.2432G>C (p.Arg811Thr)
c.2528G>C (p.Arg843Thr)
c.2378G>C (p.Arg793Thr)
5g.128361746C>TCA360767956FBN2c.2531G>A (p.Arg844Lys)
c.2432G>A (p.Arg811Lys)
c.2528G>A (p.Arg843Lys)
c.2378G>A (p.Arg793Lys)
 gnomAD v4
5g.128361747T>ACA360767957FBN2c.2530A>T (p.Arg844Trp)
c.2431A>T (p.Arg811Trp)
c.2527A>T (p.Arg843Trp)
c.2377A>T (p.Arg793Trp)
5g.128361747T>CCA360767958FBN2c.2530A>G (p.Arg844Gly)
c.2431A>G (p.Arg811Gly)
c.2527A>G (p.Arg843Gly)
c.2377A>G (p.Arg793Gly)
 ClinVar
5g.128361747T>GCA446312385FBN2c.2530A>C (p.Arg844=)
c.2431A>C (p.Arg811=)
c.2527A>C (p.Arg843=)
c.2377A>C (p.Arg793=)
5g.128361748G>ACA446312386FBN2c.2529C>T (p.Phe843=)
c.2430C>T (p.Phe810=)
c.2526C>T (p.Phe842=)
c.2376C>T (p.Phe792=)
 dbSNP gnomAD v3 gnomAD v4
5g.128361748G>CCA360767959FBN2c.2529C>G (p.Phe843Leu)
c.2430C>G (p.Phe810Leu)
c.2526C>G (p.Phe842Leu)
c.2376C>G (p.Phe792Leu)
5g.128361748G=CA1581284183FBN2c.2529C= (p.Phe843=)
c.2430C= (p.Phe810=)
c.2526C= (p.Phe842=)
c.2376C= (p.Phe792=)
5g.128361748G>TCA360767960FBN2c.2529C>A (p.Phe843Leu)
c.2430C>A (p.Phe810Leu)
c.2526C>A (p.Phe842Leu)
c.2376C>A (p.Phe792Leu)
 gnomAD v4
5g.128361749A>CCA360767961FBN2c.2528T>G (p.Phe843Cys)
c.2429T>G (p.Phe810Cys)
c.2525T>G (p.Phe842Cys)
c.2375T>G (p.Phe792Cys)
5g.128361749A>GCA360767963FBN2c.2528T>C (p.Phe843Ser)
c.2429T>C (p.Phe810Ser)
c.2525T>C (p.Phe842Ser)
c.2375T>C (p.Phe792Ser)
5g.128361749A>TCA360767962FBN2c.2528T>A (p.Phe843Tyr)
c.2429T>A (p.Phe810Tyr)
c.2525T>A (p.Phe842Tyr)
c.2375T>A (p.Phe792Tyr)
5g.128361750A>CCA360767964FBN2c.2527T>G (p.Phe843Val)
c.2428T>G (p.Phe810Val)
c.2524T>G (p.Phe842Val)
c.2374T>G (p.Phe792Val)
5g.128361750A>GCA360767965FBN2c.2527T>C (p.Phe843Leu)
c.2428T>C (p.Phe810Leu)
c.2524T>C (p.Phe842Leu)
c.2374T>C (p.Phe792Leu)
5g.128361750A>TCA360767966FBN2c.2527T>A (p.Phe843Ile)
c.2428T>A (p.Phe810Ile)
c.2524T>A (p.Phe842Ile)
c.2374T>A (p.Phe792Ile)
 COSMIC COSMIC
5g.128361751C>ACA446312387FBN2c.2526G>T (p.Val842=)
c.2427G>T (p.Val809=)
c.2523G>T (p.Val841=)
c.2373G>T (p.Val791=)
5g.128361751C=CA1581284184FBN2c.2526G= (p.Val842=)
c.2427G= (p.Val809=)
c.2523G= (p.Val841=)
c.2373G= (p.Val791=)
5g.128361751C>GCA446312388FBN2c.2526G>C (p.Val842=)
c.2427G>C (p.Val809=)
c.2523G>C (p.Val841=)
c.2373G>C (p.Val791=)
5g.128361751C>TCA3395524FBN2c.2526G>A (p.Val842=)
c.2427G>A (p.Val809=)
c.2523G>A (p.Val841=)
c.2373G>A (p.Val791=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361752A>CCA360767967FBN2c.2525T>G (p.Val842Gly)
c.2426T>G (p.Val809Gly)
c.2522T>G (p.Val841Gly)
c.2372T>G (p.Val791Gly)
5g.128361752A>GCA360767968FBN2c.2525T>C (p.Val842Ala)
c.2426T>C (p.Val809Ala)
c.2522T>C (p.Val841Ala)
c.2372T>C (p.Val791Ala)
5g.128361752A>TCA360767969FBN2c.2525T>A (p.Val842Glu)
c.2426T>A (p.Val809Glu)
c.2522T>A (p.Val841Glu)
c.2372T>A (p.Val791Glu)
5g.128361753C>ACA360767970FBN2c.2524G>T (p.Val842Leu)
c.2425G>T (p.Val809Leu)
c.2521G>T (p.Val841Leu)
c.2371G>T (p.Val791Leu)
5g.128361753C>GCA360767971FBN2c.2524G>C (p.Val842Leu)
c.2425G>C (p.Val809Leu)
c.2521G>C (p.Val841Leu)
c.2371G>C (p.Val791Leu)
5g.128361753C>TCA360767972FBN2c.2524G>A (p.Val842Met)
c.2425G>A (p.Val809Met)
c.2521G>A (p.Val841Met)
c.2371G>A (p.Val791Met)
5g.128361754A>CCA360767973FBN2c.2523T>G (p.Tyr841Ter)
c.2424T>G (p.Tyr808Ter)
c.2520T>G (p.Tyr840Ter)
c.2370T>G (p.Tyr790Ter)
5g.128361754A>GCA446312389FBN2c.2523T>C (p.Tyr841=)
c.2424T>C (p.Tyr808=)
c.2520T>C (p.Tyr840=)
c.2370T>C (p.Tyr790=)
5g.128361754A>TCA360767974FBN2c.2523T>A (p.Tyr841Ter)
c.2424T>A (p.Tyr808Ter)
c.2520T>A (p.Tyr840Ter)
c.2370T>A (p.Tyr790Ter)
5g.128361755T>ACA3395526FBN2c.2522A>T (p.Tyr841Phe)
c.2423A>T (p.Tyr808Phe)
c.2519A>T (p.Tyr840Phe)
c.2369A>T (p.Tyr790Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361755T>CCA3395525FBN2c.2522A>G (p.Tyr841Cys)
c.2423A>G (p.Tyr808Cys)
c.2519A>G (p.Tyr840Cys)
c.2369A>G (p.Tyr790Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361755T>GCA360767975FBN2c.2522A>C (p.Tyr841Ser)
c.2423A>C (p.Tyr808Ser)
c.2519A>C (p.Tyr840Ser)
c.2369A>C (p.Tyr790Ser)
5g.128361755T=CA1581284185FBN2c.2522A= (p.Tyr841=)
c.2423A= (p.Tyr808=)
c.2519A= (p.Tyr840=)
c.2369A= (p.Tyr790=)
5g.128361756A>CCA360767976FBN2c.2521T>G (p.Tyr841Asp)
c.2422T>G (p.Tyr808Asp)
c.2518T>G (p.Tyr840Asp)
c.2368T>G (p.Tyr790Asp)
5g.128361756A>GCA360767977FBN2c.2521T>C (p.Tyr841His)
c.2422T>C (p.Tyr808His)
c.2518T>C (p.Tyr840His)
c.2368T>C (p.Tyr790His)
5g.128361756A>TCA360767978FBN2c.2521T>A (p.Tyr841Asn)
c.2422T>A (p.Tyr808Asn)
c.2518T>A (p.Tyr840Asn)
c.2368T>A (p.Tyr790Asn)
 gnomAD v4
5g.128361757C>ACA446312390FBN2c.2520G>T (p.Gly840=)
c.2421G>T (p.Gly807=)
c.2517G>T (p.Gly839=)
c.2367G>T (p.Gly789=)
 dbSNP gnomAD v2 gnomAD v4
5g.128361757C=CA1581284186FBN2c.2520G= (p.Gly840=)
c.2421G= (p.Gly807=)
c.2517G= (p.Gly839=)
c.2367G= (p.Gly789=)
5g.128361757C>GCA446312391FBN2c.2520G>C (p.Gly840=)
c.2421G>C (p.Gly807=)
c.2517G>C (p.Gly839=)
c.2367G>C (p.Gly789=)
 gnomAD v4
5g.128361757C>TCA446312392FBN2c.2520G>A (p.Gly840=)
c.2421G>A (p.Gly807=)
c.2517G>A (p.Gly839=)
c.2367G>A (p.Gly789=)
 dbSNP gnomAD v4
5g.128361758C>ACA360767979FBN2c.2519G>T (p.Gly840Val)
c.2420G>T (p.Gly807Val)
c.2516G>T (p.Gly839Val)
c.2366G>T (p.Gly789Val)
5g.128361758C=CA1581284187FBN2c.2519G= (p.Gly840=)
c.2420G= (p.Gly807=)
c.2516G= (p.Gly839=)
c.2366G= (p.Gly789=)
5g.128361758C>GCA360767980FBN2c.2519G>C (p.Gly840Ala)
c.2420G>C (p.Gly807Ala)
c.2516G>C (p.Gly839Ala)
c.2366G>C (p.Gly789Ala)
5g.128361758C>TCA360767981FBN2c.2519G>A (p.Gly840Glu)
c.2420G>A (p.Gly807Glu)
c.2516G>A (p.Gly839Glu)
c.2366G>A (p.Gly789Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.128361759C>ACA360767982FBN2c.2518G>T (p.Gly840Trp)
c.2419G>T (p.Gly807Trp)
c.2515G>T (p.Gly839Trp)
c.2365G>T (p.Gly789Trp)
5g.128361759C>GCA360767983FBN2c.2518G>C (p.Gly840Arg)
c.2419G>C (p.Gly807Arg)
c.2515G>C (p.Gly839Arg)
c.2365G>C (p.Gly789Arg)
5g.128361759C>TCA360767984FBN2c.2518G>A (p.Gly840Arg)
c.2419G>A (p.Gly807Arg)
c.2515G>A (p.Gly839Arg)
c.2365G>A (p.Gly789Arg)
 COSMIC COSMIC
5g.128361760T>ACA446312393FBN2c.2517A>T (p.Pro839=)
c.2418A>T (p.Pro806=)
c.2514A>T (p.Pro838=)
c.2364A>T (p.Pro788=)
5g.128361760T>CCA446312394FBN2c.2517A>G (p.Pro839=)
c.2418A>G (p.Pro806=)
c.2514A>G (p.Pro838=)
c.2364A>G (p.Pro788=)
 ClinVar dbSNP
5g.128361760T>GCA446312395FBN2c.2517A>C (p.Pro839=)
c.2418A>C (p.Pro806=)
c.2514A>C (p.Pro838=)
c.2364A>C (p.Pro788=)
5g.128361760T=CA1581284188FBN2c.2517A= (p.Pro839=)
c.2418A= (p.Pro806=)
c.2514A= (p.Pro838=)
c.2364A= (p.Pro788=)
5g.128361761G>ACA360767985FBN2c.2516C>T (p.Pro839Leu)
c.2417C>T (p.Pro806Leu)
c.2513C>T (p.Pro838Leu)
c.2363C>T (p.Pro788Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128361761G>CCA360767986FBN2c.2516C>G (p.Pro839Arg)
c.2417C>G (p.Pro806Arg)
c.2513C>G (p.Pro838Arg)
c.2363C>G (p.Pro788Arg)
 gnomAD v4
5g.128361761G=CA1581284189FBN2c.2516C= (p.Pro839=)
c.2417C= (p.Pro806=)
c.2513C= (p.Pro838=)
c.2363C= (p.Pro788=)
5g.128361761G>TCA360767987FBN2c.2516C>A (p.Pro839Gln)
c.2417C>A (p.Pro806Gln)
c.2513C>A (p.Pro838Gln)
c.2363C>A (p.Pro788Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.128361762G>ACA360767988FBN2c.2515C>T (p.Pro839Ser)
c.2416C>T (p.Pro806Ser)
c.2512C>T (p.Pro838Ser)
c.2362C>T (p.Pro788Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.128361762G>CCA360767989FBN2c.2515C>G (p.Pro839Ala)
c.2416C>G (p.Pro806Ala)
c.2512C>G (p.Pro838Ala)
c.2362C>G (p.Pro788Ala)
5g.128361762G=CA1581284190FBN2c.2515C= (p.Pro839=)
c.2416C= (p.Pro806=)
c.2512C= (p.Pro838=)
c.2362C= (p.Pro788=)
5g.128361762G>TCA3395527FBN2c.2515C>A (p.Pro839Thr)
c.2416C>A (p.Pro806Thr)
c.2512C>A (p.Pro838Thr)
c.2362C>A (p.Pro788Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361763T>ACA446312397FBN2c.2514A>T (p.Pro838=)
c.2415A>T (p.Pro805=)
c.2511A>T (p.Pro837=)
c.2361A>T (p.Pro787=)
5g.128361763T>CCA446312398FBN2c.2514A>G (p.Pro838=)
c.2415A>G (p.Pro805=)
c.2511A>G (p.Pro837=)
c.2361A>G (p.Pro787=)
5g.128361763T>GCA446312396FBN2c.2514A>C (p.Pro838=)
c.2415A>C (p.Pro805=)
c.2511A>C (p.Pro837=)
c.2361A>C (p.Pro787=)
5g.128361764G>ACA360767990FBN2c.2513C>T (p.Pro838Leu)
c.2414C>T (p.Pro805Leu)
c.2510C>T (p.Pro837Leu)
c.2360C>T (p.Pro787Leu)
5g.128361764G>CCA360767992FBN2c.2513C>G (p.Pro838Arg)
c.2414C>G (p.Pro805Arg)
c.2510C>G (p.Pro837Arg)
c.2360C>G (p.Pro787Arg)
5g.128361764G>TCA360767991FBN2c.2513C>A (p.Pro838Gln)
c.2414C>A (p.Pro805Gln)
c.2510C>A (p.Pro837Gln)
c.2360C>A (p.Pro787Gln)
5g.128361765G>ACA360767993FBN2c.2512C>T (p.Pro838Ser)
c.2413C>T (p.Pro805Ser)
c.2509C>T (p.Pro837Ser)
c.2359C>T (p.Pro787Ser)
5g.128361765G>CCA360767994FBN2c.2512C>G (p.Pro838Ala)
c.2413C>G (p.Pro805Ala)
c.2509C>G (p.Pro837Ala)
c.2359C>G (p.Pro787Ala)
5g.128361765G>TCA360767995FBN2c.2512C>A (p.Pro838Thr)
c.2413C>A (p.Pro805Thr)
c.2509C>A (p.Pro837Thr)
c.2359C>A (p.Pro787Thr)
5g.128361766G>ACA3395528FBN2c.2511C>T (p.Cys837=)
c.2412C>T (p.Cys804=)
c.2508C>T (p.Cys836=)
c.2358C>T (p.Cys786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361766G>CCA360767996FBN2c.2511C>G (p.Cys837Trp)
c.2412C>G (p.Cys804Trp)
c.2508C>G (p.Cys836Trp)
c.2358C>G (p.Cys786Trp)
5g.128361766G=CA1581284191FBN2c.2511C= (p.Cys837=)
c.2412C= (p.Cys804=)
c.2508C= (p.Cys836=)
c.2358C= (p.Cys786=)
5g.128361766G>TCA360767997FBN2c.2511C>A (p.Cys837Ter)
c.2412C>A (p.Cys804Ter)
c.2508C>A (p.Cys836Ter)
c.2358C>A (p.Cys786Ter)
5g.128361767C>ACA360767998FBN2c.2510G>T (p.Cys837Phe)
c.2411G>T (p.Cys804Phe)
c.2507G>T (p.Cys836Phe)
c.2357G>T (p.Cys786Phe)
5g.128361767C>GCA360767999FBN2c.2510G>C (p.Cys837Ser)
c.2411G>C (p.Cys804Ser)
c.2507G>C (p.Cys836Ser)
c.2357G>C (p.Cys786Ser)
5g.128361767C>TCA360768000FBN2c.2510G>A (p.Cys837Tyr)
c.2411G>A (p.Cys804Tyr)
c.2507G>A (p.Cys836Tyr)
c.2357G>A (p.Cys786Tyr)
5g.128361768A>CCA360768001FBN2c.2509T>G (p.Cys837Gly)
c.2410T>G (p.Cys804Gly)
c.2506T>G (p.Cys836Gly)
c.2356T>G (p.Cys786Gly)
5g.128361768A>GCA360768002FBN2c.2509T>C (p.Cys837Arg)
c.2410T>C (p.Cys804Arg)
c.2506T>C (p.Cys836Arg)
c.2356T>C (p.Cys786Arg)
5g.128361768A>TCA360768003FBN2c.2509T>A (p.Cys837Ser)
c.2410T>A (p.Cys804Ser)
c.2506T>A (p.Cys836Ser)
c.2356T>A (p.Cys786Ser)
5g.128361769C>ACA446312399FBN2c.2508G>T (p.Thr836=)
c.2409G>T (p.Thr803=)
c.2505G>T (p.Thr835=)
c.2355G>T (p.Thr785=)
 dbSNP gnomAD v2 gnomAD v4
5g.128361769C=CA1581284192FBN2c.2508G= (p.Thr836=)
c.2409G= (p.Thr803=)
c.2505G= (p.Thr835=)
c.2355G= (p.Thr785=)
5g.128361769C>GCA446312400FBN2c.2508G>C (p.Thr836=)
c.2409G>C (p.Thr803=)
c.2505G>C (p.Thr835=)
c.2355G>C (p.Thr785=)
 gnomAD v4
5g.128361769C>TCA290861FBN2c.2508G>A (p.Thr836=)
c.2409G>A (p.Thr803=)
c.2505G>A (p.Thr835=)
c.2355G>A (p.Thr785=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361770G>ACA127029967FBN2c.2507C>T (p.Thr836Met)
c.2408C>T (p.Thr803Met)
c.2504C>T (p.Thr835Met)
c.2354C>T (p.Thr785Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.128361770G>CCA360768005FBN2c.2507C>G (p.Thr836Arg)
c.2408C>G (p.Thr803Arg)
c.2504C>G (p.Thr835Arg)
c.2354C>G (p.Thr785Arg)
5g.128361770G=CA1581284193FBN2c.2507C= (p.Thr836=)
c.2408C= (p.Thr803=)
c.2504C= (p.Thr835=)
c.2354C= (p.Thr785=)
5g.128361770G>TCA360768004FBN2c.2507C>A (p.Thr836Lys)
c.2408C>A (p.Thr803Lys)
c.2504C>A (p.Thr835Lys)
c.2354C>A (p.Thr785Lys)
 gnomAD v4
5g.128361771T>ACA360768006FBN2c.2506A>T (p.Thr836Ser)
c.2407A>T (p.Thr803Ser)
c.2503A>T (p.Thr835Ser)
c.2353A>T (p.Thr785Ser)
 ClinVar
5g.128361771T>CCA360768007FBN2c.2506A>G (p.Thr836Ala)
c.2407A>G (p.Thr803Ala)
c.2503A>G (p.Thr835Ala)
c.2353A>G (p.Thr785Ala)
5g.128361771T>GCA360768008FBN2c.2506A>C (p.Thr836Pro)
c.2407A>C (p.Thr803Pro)
c.2503A>C (p.Thr835Pro)
c.2353A>C (p.Thr785Pro)
5g.128361772A>CCA360768009FBN2c.2505T>G (p.Cys835Trp)
c.2406T>G (p.Cys802Trp)
c.2502T>G (p.Cys834Trp)
c.2352T>G (p.Cys784Trp)
5g.128361772A>GCA446312401FBN2c.2505T>C (p.Cys835=)
c.2406T>C (p.Cys802=)
c.2502T>C (p.Cys834=)
c.2352T>C (p.Cys784=)
 gnomAD v4
5g.128361772A>TCA360768010FBN2c.2505T>A (p.Cys835Ter)
c.2406T>A (p.Cys802Ter)
c.2502T>A (p.Cys834Ter)
c.2352T>A (p.Cys784Ter)
5g.128361773C>ACA360768011FBN2c.2504G>T (p.Cys835Phe)
c.2405G>T (p.Cys802Phe)
c.2501G>T (p.Cys834Phe)
c.2351G>T (p.Cys784Phe)
5g.128361773C>GCA360768012FBN2c.2504G>C (p.Cys835Ser)
c.2405G>C (p.Cys802Ser)
c.2501G>C (p.Cys834Ser)
c.2351G>C (p.Cys784Ser)
5g.128361773C>TCA360768013FBN2c.2504G>A (p.Cys835Tyr)
c.2405G>A (p.Cys802Tyr)
c.2501G>A (p.Cys834Tyr)
c.2351G>A (p.Cys784Tyr)
5g.128361774A>CCA360768014FBN2c.2503T>G (p.Cys835Gly)
c.2404T>G (p.Cys802Gly)
c.2500T>G (p.Cys834Gly)
c.2350T>G (p.Cys784Gly)
5g.128361774A>GCA360768015FBN2c.2503T>C (p.Cys835Arg)
c.2404T>C (p.Cys802Arg)
c.2500T>C (p.Cys834Arg)
c.2350T>C (p.Cys784Arg)
 gnomAD v4
5g.128361774A>TCA360768016FBN2c.2503T>A (p.Cys835Ser)
c.2404T>A (p.Cys802Ser)
c.2500T>A (p.Cys834Ser)
c.2350T>A (p.Cys784Ser)
5g.128361775G>ACA446312402FBN2c.2502C>T (p.Ser834=)
c.2403C>T (p.Ser801=)
c.2499C>T (p.Ser833=)
c.2349C>T (p.Ser783=)
5g.128361775G>CCA127029969FBN2c.2502C>G (p.Ser834Arg)
c.2403C>G (p.Ser801Arg)
c.2499C>G (p.Ser833Arg)
c.2349C>G (p.Ser783Arg)
 dbSNP gnomAD v2
5g.128361775G=CA1581284194FBN2c.2502C= (p.Ser834=)
c.2403C= (p.Ser801=)
c.2499C= (p.Ser833=)
c.2349C= (p.Ser783=)
5g.128361775G>TCA360768017FBN2c.2502C>A (p.Ser834Arg)
c.2403C>A (p.Ser801Arg)
c.2499C>A (p.Ser833Arg)
c.2349C>A (p.Ser783Arg)
5g.128361776C>ACA360768018FBN2c.2501G>T (p.Ser834Ile)
c.2402G>T (p.Ser801Ile)
c.2498G>T (p.Ser833Ile)
c.2348G>T (p.Ser783Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.128361776C=CA1581284195FBN2c.2501G= (p.Ser834=)
c.2402G= (p.Ser801=)
c.2498G= (p.Ser833=)
c.2348G= (p.Ser783=)
5g.128361776C>GCA360768020FBN2c.2501G>C (p.Ser834Thr)
c.2402G>C (p.Ser801Thr)
c.2498G>C (p.Ser833Thr)
c.2348G>C (p.Ser783Thr)
5g.128361776C>TCA360768019FBN2c.2501G>A (p.Ser834Asn)
c.2402G>A (p.Ser801Asn)
c.2498G>A (p.Ser833Asn)
c.2348G>A (p.Ser783Asn)
5g.128361777T>ACA360768021FBN2c.2500A>T (p.Ser834Cys)
c.2401A>T (p.Ser801Cys)
c.2497A>T (p.Ser833Cys)
c.2347A>T (p.Ser783Cys)
5g.128361777T>CCA360768022FBN2c.2500A>G (p.Ser834Gly)
c.2401A>G (p.Ser801Gly)
c.2497A>G (p.Ser833Gly)
c.2347A>G (p.Ser783Gly)
5g.128361777T>GCA360768023FBN2c.2500A>C (p.Ser834Arg)
c.2401A>C (p.Ser801Arg)
c.2497A>C (p.Ser833Arg)
c.2347A>C (p.Ser783Arg)
5g.128361778G>ACA3395529FBN2c.2499C>T (p.Tyr833=)
c.2400C>T (p.Tyr800=)
c.2496C>T (p.Tyr832=)
c.2346C>T (p.Tyr782=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361778G>CCA360768024FBN2c.2499C>G (p.Tyr833Ter)
c.2400C>G (p.Tyr800Ter)
c.2496C>G (p.Tyr832Ter)
c.2346C>G (p.Tyr782Ter)
5g.128361778G=CA1581284196FBN2c.2499C= (p.Tyr833=)
c.2400C= (p.Tyr800=)
c.2496C= (p.Tyr832=)
c.2346C= (p.Tyr782=)
5g.128361778G>TCA360768025FBN2c.2499C>A (p.Tyr833Ter)
c.2400C>A (p.Tyr800Ter)
c.2496C>A (p.Tyr832Ter)
c.2346C>A (p.Tyr782Ter)
5g.128361779T>ACA360768026FBN2c.2498A>T (p.Tyr833Phe)
c.2399A>T (p.Tyr800Phe)
c.2495A>T (p.Tyr832Phe)
c.2345A>T (p.Tyr782Phe)
5g.128361779T>CCA360768027FBN2c.2498A>G (p.Tyr833Cys)
c.2399A>G (p.Tyr800Cys)
c.2495A>G (p.Tyr832Cys)
c.2345A>G (p.Tyr782Cys)
5g.128361779T>GCA360768028FBN2c.2498A>C (p.Tyr833Ser)
c.2399A>C (p.Tyr800Ser)
c.2495A>C (p.Tyr832Ser)
c.2345A>C (p.Tyr782Ser)
5g.128361780A>CCA360768029FBN2c.2497T>G (p.Tyr833Asp)
c.2398T>G (p.Tyr800Asp)
c.2494T>G (p.Tyr832Asp)
c.2344T>G (p.Tyr782Asp)
5g.128361780A>GCA360768030FBN2c.2497T>C (p.Tyr833His)
c.2398T>C (p.Tyr800His)
c.2494T>C (p.Tyr832His)
c.2344T>C (p.Tyr782His)
5g.128361780A>TCA360768031FBN2c.2497T>A (p.Tyr833Asn)
c.2398T>A (p.Tyr800Asn)
c.2494T>A (p.Tyr832Asn)
c.2344T>A (p.Tyr782Asn)
5g.128361781A>CCA360768032FBN2c.2496T>G (p.Ser832Arg)
c.2397T>G (p.Ser799Arg)
c.2493T>G (p.Ser831Arg)
c.2343T>G (p.Ser781Arg)
5g.128361781A>GCA446312404FBN2c.2496T>C (p.Ser832=)
c.2397T>C (p.Ser799=)
c.2493T>C (p.Ser831=)
c.2343T>C (p.Ser781=)
5g.128361781A>TCA360768033FBN2c.2496T>A (p.Ser832Arg)
c.2397T>A (p.Ser799Arg)
c.2493T>A (p.Ser831Arg)
c.2343T>A (p.Ser781Arg)
5g.128361782C>ACA360768034FBN2c.2495G>T (p.Ser832Ile)
c.2396G>T (p.Ser799Ile)
c.2492G>T (p.Ser831Ile)
c.2342G>T (p.Ser781Ile)
5g.128361782C>GCA360768035FBN2c.2495G>C (p.Ser832Thr)
c.2396G>C (p.Ser799Thr)
c.2492G>C (p.Ser831Thr)
c.2342G>C (p.Ser781Thr)
5g.128361782C>TCA360768036FBN2c.2495G>A (p.Ser832Asn)
c.2396G>A (p.Ser799Asn)
c.2492G>A (p.Ser831Asn)
c.2342G>A (p.Ser781Asn)
 COSMIC COSMIC
5g.128361783T>ACA360768037FBN2c.2494A>T (p.Ser832Cys)
c.2395A>T (p.Ser799Cys)
c.2491A>T (p.Ser831Cys)
c.2341A>T (p.Ser781Cys)
5g.128361783T>CCA360768038FBN2c.2494A>G (p.Ser832Gly)
c.2395A>G (p.Ser799Gly)
c.2491A>G (p.Ser831Gly)
c.2341A>G (p.Ser781Gly)
5g.128361783T>GCA360768039FBN2c.2494A>C (p.Ser832Arg)
c.2395A>C (p.Ser799Arg)
c.2491A>C (p.Ser831Arg)
c.2341A>C (p.Ser781Arg)
5g.128361784T>ACA446312405FBN2c.2493A>T (p.Gly831=)
c.2394A>T (p.Gly798=)
c.2490A>T (p.Gly830=)
c.2340A>T (p.Gly780=)
5g.128361784T>CCA446312407FBN2c.2493A>G (p.Gly831=)
c.2394A>G (p.Gly798=)
c.2490A>G (p.Gly830=)
c.2340A>G (p.Gly780=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128361784T>GCA446312406FBN2c.2493A>C (p.Gly831=)
c.2394A>C (p.Gly798=)
c.2490A>C (p.Gly830=)
c.2340A>C (p.Gly780=)
5g.128361784T=CA1581284197FBN2c.2493A= (p.Gly831=)
c.2394A= (p.Gly798=)
c.2490A= (p.Gly830=)
c.2340A= (p.Gly780=)
5g.128361785C>ACA360768040FBN2c.2492G>T (p.Gly831Val)
c.2393G>T (p.Gly798Val)
c.2489G>T (p.Gly830Val)
c.2339G>T (p.Gly780Val)
5g.128361785C>GCA360768041FBN2c.2492G>C (p.Gly831Ala)
c.2393G>C (p.Gly798Ala)
c.2489G>C (p.Gly830Ala)
c.2339G>C (p.Gly780Ala)
5g.128361785C>TCA360768042FBN2c.2492G>A (p.Gly831Glu)
c.2393G>A (p.Gly798Glu)
c.2489G>A (p.Gly830Glu)
c.2339G>A (p.Gly780Glu)
 ClinVar dbSNP
5g.128361786C>ACA360768043FBN2c.2491G>T (p.Gly831Ter)
c.2392G>T (p.Gly798Ter)
c.2488G>T (p.Gly830Ter)
c.2338G>T (p.Gly780Ter)
5g.128361786C>GCA360768044FBN2c.2491G>C (p.Gly831Arg)
c.2392G>C (p.Gly798Arg)
c.2488G>C (p.Gly830Arg)
c.2338G>C (p.Gly780Arg)
5g.128361786C>TCA360768045FBN2c.2491G>A (p.Gly831Arg)
c.2392G>A (p.Gly798Arg)
c.2488G>A (p.Gly830Arg)
c.2338G>A (p.Gly780Arg)
5g.128361787T>ACA446312408FBN2c.2490A>T (p.Pro830=)
c.2391A>T (p.Pro797=)
c.2487A>T (p.Pro829=)
c.2337A>T (p.Pro779=)
5g.128361787T>CCA446312410FBN2c.2490A>G (p.Pro830=)
c.2391A>G (p.Pro797=)
c.2487A>G (p.Pro829=)
c.2337A>G (p.Pro779=)
 dbSNP gnomAD v3 gnomAD v4
5g.128361787T>GCA446312409FBN2c.2490A>C (p.Pro830=)
c.2391A>C (p.Pro797=)
c.2487A>C (p.Pro829=)
c.2337A>C (p.Pro779=)
5g.128361787T=CA1581284198FBN2c.2490A= (p.Pro830=)
c.2391A= (p.Pro797=)
c.2487A= (p.Pro829=)
c.2337A= (p.Pro779=)
5g.128361788G>ACA3395530FBN2c.2489C>T (p.Pro830Leu)
c.2390C>T (p.Pro797Leu)
c.2486C>T (p.Pro829Leu)
c.2336C>T (p.Pro779Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128361788G>CCA360768047FBN2c.2489C>G (p.Pro830Arg)
c.2390C>G (p.Pro797Arg)
c.2486C>G (p.Pro829Arg)
c.2336C>G (p.Pro779Arg)
 ClinVar dbSNP
5g.128361788G=CA1581284199FBN2c.2489C= (p.Pro830=)
c.2390C= (p.Pro797=)
c.2486C= (p.Pro829=)
c.2336C= (p.Pro779=)
5g.128361788G>TCA360768046FBN2c.2489C>A (p.Pro830Gln)
c.2390C>A (p.Pro797Gln)
c.2486C>A (p.Pro829Gln)
c.2336C>A (p.Pro779Gln)
 COSMIC COSMIC
5g.128361789G>ACA360768048FBN2c.2488C>T (p.Pro830Ser)
c.2389C>T (p.Pro797Ser)
c.2485C>T (p.Pro829Ser)
c.2335C>T (p.Pro779Ser)
5g.128361789G>CCA360768050FBN2c.2488C>G (p.Pro830Ala)
c.2389C>G (p.Pro797Ala)
c.2485C>G (p.Pro829Ala)
c.2335C>G (p.Pro779Ala)
5g.128361789G>TCA360768049FBN2c.2488C>A (p.Pro830Thr)
c.2389C>A (p.Pro797Thr)
c.2485C>A (p.Pro829Thr)
c.2335C>A (p.Pro779Thr)
5g.128361790C>ACA16604690FBN2c.2487G>T (p.Thr829=)
c.2388G>T (p.Thr796=)
c.2484G>T (p.Thr828=)
c.2334G>T (p.Thr778=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128361790C=CA1581284200FBN2c.2487G= (p.Thr829=)
c.2388G= (p.Thr796=)
c.2484G= (p.Thr828=)
c.2334G= (p.Thr778=)
5g.128361790C>GCA446312411FBN2c.2487G>C (p.Thr829=)
c.2388G>C (p.Thr796=)
c.2484G>C (p.Thr828=)
c.2334G>C (p.Thr778=)
5g.128361790C>TCA3395531FBN2c.2487G>A (p.Thr829=)
c.2388G>A (p.Thr796=)
c.2484G>A (p.Thr828=)
c.2334G>A (p.Thr778=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361791G>ACA3395532FBN2c.2486C>T (p.Thr829Met)
c.2387C>T (p.Thr796Met)
c.2483C>T (p.Thr828Met)
c.2333C>T (p.Thr778Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128361791G>CCA360768051FBN2c.2486C>G (p.Thr829Arg)
c.2387C>G (p.Thr796Arg)
c.2483C>G (p.Thr828Arg)
c.2333C>G (p.Thr778Arg)
 dbSNP gnomAD v2
5g.128361791G=CA1581284201FBN2c.2486C= (p.Thr829=)
c.2387C= (p.Thr796=)
c.2483C= (p.Thr828=)
c.2333C= (p.Thr778=)
5g.128361791G>TCA360768052FBN2c.2486C>A (p.Thr829Lys)
c.2387C>A (p.Thr796Lys)
c.2483C>A (p.Thr828Lys)
c.2333C>A (p.Thr778Lys)
5g.128361792T>ACA360768053FBN2c.2485A>T (p.Thr829Ser)
c.2386A>T (p.Thr796Ser)
c.2482A>T (p.Thr828Ser)
c.2332A>T (p.Thr778Ser)
5g.128361792T>CCA360768054FBN2c.2485A>G (p.Thr829Ala)
c.2386A>G (p.Thr796Ala)
c.2482A>G (p.Thr828Ala)
c.2332A>G (p.Thr778Ala)
5g.128361792T>GCA360768055FBN2c.2485A>C (p.Thr829Pro)
c.2386A>C (p.Thr796Pro)
c.2482A>C (p.Thr828Pro)
c.2332A>C (p.Thr778Pro)
5g.128361793G>ACA3395533FBN2c.2484C>T (p.Asn828=)
c.2385C>T (p.Asn795=)
c.2481C>T (p.Asn827=)
c.2331C>T (p.Asn777=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128361793G>CCA360768056FBN2c.2484C>G (p.Asn828Lys)
c.2385C>G (p.Asn795Lys)
c.2481C>G (p.Asn827Lys)
c.2331C>G (p.Asn777Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.128361793G=CA1581284202FBN2c.2484C= (p.Asn828=)
c.2385C= (p.Asn795=)
c.2481C= (p.Asn827=)
c.2331C= (p.Asn777=)
5g.128361793G>TCA360768057FBN2c.2484C>A (p.Asn828Lys)
c.2385C>A (p.Asn795Lys)
c.2481C>A (p.Asn827Lys)
c.2331C>A (p.Asn777Lys)
 COSMIC COSMIC
5g.128361794T>ACA360768060FBN2c.2483A>T (p.Asn828Ile)
c.2384A>T (p.Asn795Ile)
c.2480A>T (p.Asn827Ile)
c.2330A>T (p.Asn777Ile)
5g.128361794T>CCA360768059FBN2c.2483A>G (p.Asn828Ser)
c.2384A>G (p.Asn795Ser)
c.2480A>G (p.Asn827Ser)
c.2330A>G (p.Asn777Ser)
5g.128361794T>GCA360768058FBN2c.2483A>C (p.Asn828Thr)
c.2384A>C (p.Asn795Thr)
c.2480A>C (p.Asn827Thr)
c.2330A>C (p.Asn777Thr)
5g.128361795T>ACA360768061FBN2c.2482A>T (p.Asn828Tyr)
c.2383A>T (p.Asn795Tyr)
c.2479A>T (p.Asn827Tyr)
c.2329A>T (p.Asn777Tyr)
5g.128361795T>CCA360768062FBN2c.2482A>G (p.Asn828Asp)
c.2383A>G (p.Asn795Asp)
c.2479A>G (p.Asn827Asp)
c.2329A>G (p.Asn777Asp)
5g.128361795T>GCA360768063FBN2c.2482A>C (p.Asn828His)
c.2383A>C (p.Asn795His)
c.2479A>C (p.Asn827His)
c.2329A>C (p.Asn777His)

Number of alleles fetched