Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128261757A>CCA360747103FBN2c.8343T>G (p.Ile2781Met)
c.8340T>G (p.Ile2780Met)
c.8190T>G (p.Ile2730Met)
5g.128261757A>GCA446305644FBN2c.8343T>C (p.Ile2781=)
c.8340T>C (p.Ile2780=)
c.8190T>C (p.Ile2730=)
5g.128261757A>TCA446305645FBN2c.8343T>A (p.Ile2781=)
c.8340T>A (p.Ile2780=)
c.8190T>A (p.Ile2730=)
5g.128261758_128261760dupCA2578395545FBN2c.8341_8343dup (p.Ile2781_His2782insIle)
c.8338_8340dup (p.Ile2780_His2781insIle)
c.8188_8190dup (p.Ile2730_His2731insIle)
5g.128261758A>CCA360747106FBN2c.8342T>G (p.Ile2781Ser)
c.8339T>G (p.Ile2780Ser)
c.8189T>G (p.Ile2730Ser)
5g.128261758A>GCA360747108FBN2c.8342T>C (p.Ile2781Thr)
c.8339T>C (p.Ile2780Thr)
c.8189T>C (p.Ile2730Thr)
5g.128261758A>TCA360747110FBN2c.8342T>A (p.Ile2781Asn)
c.8339T>A (p.Ile2780Asn)
c.8189T>A (p.Ile2730Asn)
5g.128261759T>ACA360747112FBN2c.8341A>T (p.Ile2781Phe)
c.8338A>T (p.Ile2780Phe)
c.8188A>T (p.Ile2730Phe)
5g.128261759T>CCA360747115FBN2c.8341A>G (p.Ile2781Val)
c.8338A>G (p.Ile2780Val)
c.8188A>G (p.Ile2730Val)
 gnomAD v4
5g.128261759T>GCA360747117FBN2c.8341A>C (p.Ile2781Leu)
c.8338A>C (p.Ile2780Leu)
c.8188A>C (p.Ile2730Leu)
5g.128261760A>CCA360747121FBN2c.8340T>G (p.Ser2780Arg)
c.8337T>G (p.Ser2779Arg)
c.8187T>G (p.Ser2729Arg)
5g.128261760A>GCA446305646FBN2c.8340T>C (p.Ser2780=)
c.8337T>C (p.Ser2779=)
c.8187T>C (p.Ser2729=)
5g.128261760A>TCA360747119FBN2c.8340T>A (p.Ser2780Arg)
c.8337T>A (p.Ser2779Arg)
c.8187T>A (p.Ser2729Arg)
5g.128261761C>ACA360747124FBN2c.8339G>T (p.Ser2780Ile)
c.8336G>T (p.Ser2779Ile)
c.8186G>T (p.Ser2729Ile)
5g.128261761C=CA1581234817FBN2c.8339G= (p.Ser2780=)
c.8336G= (p.Ser2779=)
c.8186G= (p.Ser2729=)
5g.128261761C>GCA360747126FBN2c.8339G>C (p.Ser2780Thr)
c.8336G>C (p.Ser2779Thr)
c.8186G>C (p.Ser2729Thr)
5g.128261761C>TCA360747127FBN2c.8339G>A (p.Ser2780Asn)
c.8336G>A (p.Ser2779Asn)
c.8186G>A (p.Ser2729Asn)
 dbSNP
5g.128261762T>ACA360747128FBN2c.8338A>T (p.Ser2780Cys)
c.8335A>T (p.Ser2779Cys)
c.8185A>T (p.Ser2729Cys)
5g.128261762T>CCA360747129FBN2c.8338A>G (p.Ser2780Gly)
c.8335A>G (p.Ser2779Gly)
c.8185A>G (p.Ser2729Gly)
5g.128261762T>GCA360747130FBN2c.8338A>C (p.Ser2780Arg)
c.8335A>C (p.Ser2779Arg)
c.8185A>C (p.Ser2729Arg)
5g.128261763T>ACA360747133FBN2c.8337A>T (p.Arg2779Ser)
c.8334A>T (p.Arg2778Ser)
c.8184A>T (p.Arg2728Ser)
5g.128261763T>CCA446305647FBN2c.8337A>G (p.Arg2779=)
c.8334A>G (p.Arg2778=)
c.8184A>G (p.Arg2728=)
5g.128261763T>GCA360747135FBN2c.8337A>C (p.Arg2779Ser)
c.8334A>C (p.Arg2778Ser)
c.8184A>C (p.Arg2728Ser)
5g.128261764C>ACA360747139FBN2c.8336G>T (p.Arg2779Ile)
c.8333G>T (p.Arg2778Ile)
c.8183G>T (p.Arg2728Ile)
5g.128261764C>GCA360747142FBN2c.8336G>C (p.Arg2779Thr)
c.8333G>C (p.Arg2778Thr)
c.8183G>C (p.Arg2728Thr)
5g.128261764C>TCA360747144FBN2c.8336G>A (p.Arg2779Lys)
c.8333G>A (p.Arg2778Lys)
c.8183G>A (p.Arg2728Lys)
5g.128261765delCA2695205137FBN2c.8335del (p.Arg2779GlufsTer16)
c.8332del (p.Arg2778GlufsTer16)
c.8182del (p.Arg2728GlufsTer16)
5g.128261765T>ACA360747146FBN2c.8335A>T (p.Arg2779Ter)
c.8332A>T (p.Arg2778Ter)
c.8182A>T (p.Arg2728Ter)
5g.128261765T>CCA360747148FBN2c.8335A>G (p.Arg2779Gly)
c.8332A>G (p.Arg2778Gly)
c.8182A>G (p.Arg2728Gly)
5g.128261765T>GCA446305648FBN2c.8335A>C (p.Arg2779=)
c.8332A>C (p.Arg2778=)
c.8182A>C (p.Arg2728=)
5g.128261766C>ACA360747151FBN2c.8334G>T (p.Lys2778Asn)
c.8331G>T (p.Lys2777Asn)
c.8181G>T (p.Lys2727Asn)
5g.128261766C>GCA360747153FBN2c.8334G>C (p.Lys2778Asn)
c.8331G>C (p.Lys2777Asn)
c.8181G>C (p.Lys2727Asn)
5g.128261766C>TCA446305649FBN2c.8334G>A (p.Lys2778=)
c.8331G>A (p.Lys2777=)
c.8181G>A (p.Lys2727=)
5g.128261767T>ACA360747156FBN2c.8333A>T (p.Lys2778Met)
c.8330A>T (p.Lys2777Met)
c.8180A>T (p.Lys2727Met)
5g.128261767T>CCA360747158FBN2c.8333A>G (p.Lys2778Arg)
c.8330A>G (p.Lys2777Arg)
c.8180A>G (p.Lys2727Arg)
5g.128261767T>GCA360747159FBN2c.8333A>C (p.Lys2778Thr)
c.8330A>C (p.Lys2777Thr)
c.8180A>C (p.Lys2727Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128261767T=CA1581234818FBN2c.8333A= (p.Lys2778=)
c.8330A= (p.Lys2777=)
c.8180A= (p.Lys2727=)
5g.128261768T>ACA360747162FBN2c.8332A>T (p.Lys2778Ter)
c.8329A>T (p.Lys2777Ter)
c.8179A>T (p.Lys2727Ter)
 COSMIC COSMIC
5g.128261768T>CCA360747164FBN2c.8332A>G (p.Lys2778Glu)
c.8329A>G (p.Lys2777Glu)
c.8179A>G (p.Lys2727Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128261768T>GCA325055FBN2c.8332A>C (p.Lys2778Gln)
c.8329A>C (p.Lys2777Gln)
c.8179A>C (p.Lys2727Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261768T=CA1581234819FBN2c.8332A= (p.Lys2778=)
c.8329A= (p.Lys2777=)
c.8179A= (p.Lys2727=)
5g.128261769C>ACA360747168FBN2c.8331G>T (p.Gln2777His)
c.8328G>T (p.Gln2776His)
c.8178G>T (p.Gln2726His)
5g.128261769C>GCA360747169FBN2c.8331G>C (p.Gln2777His)
c.8328G>C (p.Gln2776His)
c.8178G>C (p.Gln2726His)
5g.128261769C>TCA446305650FBN2c.8331G>A (p.Gln2777=)
c.8328G>A (p.Gln2776=)
c.8178G>A (p.Gln2726=)
 ClinVar gnomAD v4
5g.128261770T>ACA360747172FBN2c.8330A>T (p.Gln2777Leu)
c.8327A>T (p.Gln2776Leu)
c.8177A>T (p.Gln2726Leu)
5g.128261770T>CCA3393849FBN2c.8330A>G (p.Gln2777Arg)
c.8327A>G (p.Gln2776Arg)
c.8177A>G (p.Gln2726Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261770T>GCA360747175FBN2c.8330A>C (p.Gln2777Pro)
c.8327A>C (p.Gln2776Pro)
c.8177A>C (p.Gln2726Pro)
5g.128261770T=CA1581234820FBN2c.8330A= (p.Gln2777=)
c.8327A= (p.Gln2776=)
c.8177A= (p.Gln2726=)
5g.128261771G>ACA360747179FBN2c.8329C>T (p.Gln2777Ter)
c.8326C>T (p.Gln2776Ter)
c.8176C>T (p.Gln2726Ter)
5g.128261771G>CCA360747182FBN2c.8329C>G (p.Gln2777Glu)
c.8326C>G (p.Gln2776Glu)
c.8176C>G (p.Gln2726Glu)
5g.128261771G=CA1581234821FBN2c.8329C= (p.Gln2777=)
c.8326C= (p.Gln2776=)
c.8176C= (p.Gln2726=)
5g.128261771G>TCA360747184FBN2c.8329C>A (p.Gln2777Lys)
c.8326C>A (p.Gln2776Lys)
c.8176C>A (p.Gln2726Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128261772C>ACA360747187FBN2c.8328G>T (p.Arg2776Ser)
c.8325G>T (p.Arg2775Ser)
c.8175G>T (p.Arg2725Ser)
 gnomAD v4
5g.128261772C>GCA360747190FBN2c.8328G>C (p.Arg2776Ser)
c.8325G>C (p.Arg2775Ser)
c.8175G>C (p.Arg2725Ser)
5g.128261772C>TCA446305651FBN2c.8328G>A (p.Arg2776=)
c.8325G>A (p.Arg2775=)
c.8175G>A (p.Arg2725=)
 gnomAD v4
5g.128261773C>ACA360747193FBN2c.8327G>T (p.Arg2776Met)
c.8324G>T (p.Arg2775Met)
c.8174G>T (p.Arg2725Met)
5g.128261773C=CA1581234822FBN2c.8327G= (p.Arg2776=)
c.8324G= (p.Arg2775=)
c.8174G= (p.Arg2725=)
5g.128261773C>GCA360747195FBN2c.8327G>C (p.Arg2776Thr)
c.8324G>C (p.Arg2775Thr)
c.8174G>C (p.Arg2725Thr)
5g.128261773C>TCA3393850FBN2c.8327G>A (p.Arg2776Lys)
c.8324G>A (p.Arg2775Lys)
c.8174G>A (p.Arg2725Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261774T>ACA360747199FBN2c.8326A>T (p.Arg2776Trp)
c.8323A>T (p.Arg2775Trp)
c.8173A>T (p.Arg2725Trp)
5g.128261774T>CCA360747201FBN2c.8326A>G (p.Arg2776Gly)
c.8323A>G (p.Arg2775Gly)
c.8173A>G (p.Arg2725Gly)
5g.128261774T>GCA446305652FBN2c.8326A>C (p.Arg2776=)
c.8323A>C (p.Arg2775=)
c.8173A>C (p.Arg2725=)
5g.128261775G>ACA3393851FBN2c.8325C>T (p.Ser2775=)
c.8322C>T (p.Ser2774=)
c.8172C>T (p.Ser2724=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261775G>CCA360747206FBN2c.8325C>G (p.Ser2775Arg)
c.8322C>G (p.Ser2774Arg)
c.8172C>G (p.Ser2724Arg)
5g.128261775G=CA1581234823FBN2c.8325C= (p.Ser2775=)
c.8322C= (p.Ser2774=)
c.8172C= (p.Ser2724=)
5g.128261775G>TCA360747212FBN2c.8325C>A (p.Ser2775Arg)
c.8322C>A (p.Ser2774Arg)
c.8172C>A (p.Ser2724Arg)
5g.128261776C>ACA360747214FBN2c.8324G>T (p.Ser2775Ile)
c.8321G>T (p.Ser2774Ile)
c.8171G>T (p.Ser2724Ile)
5g.128261776C=CA1581234824FBN2c.8324G= (p.Ser2775=)
c.8321G= (p.Ser2774=)
c.8171G= (p.Ser2724=)
5g.128261776C>GCA360747215FBN2c.8324G>C (p.Ser2775Thr)
c.8321G>C (p.Ser2774Thr)
c.8171G>C (p.Ser2724Thr)
5g.128261776C>TCA360747216FBN2c.8324G>A (p.Ser2775Asn)
c.8321G>A (p.Ser2774Asn)
c.8171G>A (p.Ser2724Asn)
 dbSNP gnomAD v4
5g.128261777T>ACA360747220FBN2c.8323A>T (p.Ser2775Cys)
c.8320A>T (p.Ser2774Cys)
c.8170A>T (p.Ser2724Cys)
5g.128261777T>CCA360747218FBN2c.8323A>G (p.Ser2775Gly)
c.8320A>G (p.Ser2774Gly)
c.8170A>G (p.Ser2724Gly)
 ClinVar dbSNP gnomAD v4
5g.128261777T>GCA360747217FBN2c.8323A>C (p.Ser2775Arg)
c.8320A>C (p.Ser2774Arg)
c.8170A>C (p.Ser2724Arg)
5g.128261777T=CA1581234825FBN2c.8323A= (p.Ser2775=)
c.8320A= (p.Ser2774=)
c.8170A= (p.Ser2724=)
5g.128261778G>ACA446305653FBN2c.8322C>T (p.Asp2774=)
c.8319C>T (p.Asp2773=)
c.8169C>T (p.Asp2723=)
 ClinVar dbSNP
5g.128261778G>CCA360747225FBN2c.8322C>G (p.Asp2774Glu)
c.8319C>G (p.Asp2773Glu)
c.8169C>G (p.Asp2723Glu)
5g.128261778G=CA1581234826FBN2c.8322C= (p.Asp2774=)
c.8319C= (p.Asp2773=)
c.8169C= (p.Asp2723=)
5g.128261778G>TCA360747227FBN2c.8322C>A (p.Asp2774Glu)
c.8319C>A (p.Asp2773Glu)
c.8169C>A (p.Asp2723Glu)
5g.128261779T>ACA360747239FBN2c.8321A>T (p.Asp2774Val)
c.8318A>T (p.Asp2773Val)
c.8168A>T (p.Asp2723Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128261779T>CCA360747245FBN2c.8321A>G (p.Asp2774Gly)
c.8318A>G (p.Asp2773Gly)
c.8168A>G (p.Asp2723Gly)
5g.128261779T>GCA360747243FBN2c.8321A>C (p.Asp2774Ala)
c.8318A>C (p.Asp2773Ala)
c.8168A>C (p.Asp2723Ala)
5g.128261779T=CA1581234827FBN2c.8321A= (p.Asp2774=)
c.8318A= (p.Asp2773=)
c.8168A= (p.Asp2723=)
5g.128261783_128261786delCA2768332942FBN2c.8318_8321del (p.Lys2773ThrfsTer21)
c.8315_8318del (p.Lys2772ThrfsTer21)
c.8165_8168del (p.Lys2722ThrfsTer21)
5g.128261780C>ACA360747248FBN2c.8320G>T (p.Asp2774Tyr)
c.8317G>T (p.Asp2773Tyr)
c.8167G>T (p.Asp2723Tyr)
 dbSNP
5g.128261780C>GCA360747255FBN2c.8320G>C (p.Asp2774His)
c.8317G>C (p.Asp2773His)
c.8167G>C (p.Asp2723His)
5g.128261780C>TCA360747252FBN2c.8320G>A (p.Asp2774Asn)
c.8317G>A (p.Asp2773Asn)
c.8167G>A (p.Asp2723Asn)
 dbSNP
5g.128261781T>ACA360747258FBN2c.8319A>T (p.Lys2773Asn)
c.8316A>T (p.Lys2772Asn)
c.8166A>T (p.Lys2722Asn)
5g.128261781T>CCA446305654FBN2c.8319A>G (p.Lys2773=)
c.8316A>G (p.Lys2772=)
c.8166A>G (p.Lys2722=)
5g.128261781T>GCA360747261FBN2c.8319A>C (p.Lys2773Asn)
c.8316A>C (p.Lys2772Asn)
c.8166A>C (p.Lys2722Asn)
 gnomAD v4
5g.128261782T>ACA360747266FBN2c.8318A>T (p.Lys2773Ile)
c.8315A>T (p.Lys2772Ile)
c.8165A>T (p.Lys2722Ile)
5g.128261782T>CCA360747267FBN2c.8318A>G (p.Lys2773Arg)
c.8315A>G (p.Lys2772Arg)
c.8165A>G (p.Lys2722Arg)
5g.128261782T>GCA360747270FBN2c.8318A>C (p.Lys2773Thr)
c.8315A>C (p.Lys2772Thr)
c.8165A>C (p.Lys2722Thr)
5g.128261783T>ACA360747273FBN2c.8317A>T (p.Lys2773Ter)
c.8314A>T (p.Lys2772Ter)
c.8164A>T (p.Lys2722Ter)
5g.128261783T>CCA360747274FBN2c.8317A>G (p.Lys2773Glu)
c.8314A>G (p.Lys2772Glu)
c.8164A>G (p.Lys2722Glu)
5g.128261783T>GCA360747275FBN2c.8317A>C (p.Lys2773Gln)
c.8314A>C (p.Lys2772Gln)
c.8164A>C (p.Lys2722Gln)
5g.128261784C>ACA360747276FBN2c.8316G>T (p.Lys2772Asn)
c.8313G>T (p.Lys2771Asn)
c.8163G>T (p.Lys2721Asn)
5g.128261784C>GCA360747279FBN2c.8316G>C (p.Lys2772Asn)
c.8313G>C (p.Lys2771Asn)
c.8163G>C (p.Lys2721Asn)
5g.128261784C>TCA446305655FBN2c.8316G>A (p.Lys2772=)
c.8313G>A (p.Lys2771=)
c.8163G>A (p.Lys2721=)
5g.128261785T>ACA360747283FBN2c.8315A>T (p.Lys2772Met)
c.8312A>T (p.Lys2771Met)
c.8162A>T (p.Lys2721Met)
 COSMIC COSMIC
5g.128261785T>CCA360747286FBN2c.8315A>G (p.Lys2772Arg)
c.8312A>G (p.Lys2771Arg)
c.8162A>G (p.Lys2721Arg)
5g.128261785T>GCA360747288FBN2c.8315A>C (p.Lys2772Thr)
c.8312A>C (p.Lys2771Thr)
c.8162A>C (p.Lys2721Thr)
 ClinVar dbSNP
5g.128261785T=CA1581234828FBN2c.8315A= (p.Lys2772=)
c.8312A= (p.Lys2771=)
c.8162A= (p.Lys2721=)
5g.128261786T>ACA360747293FBN2c.8314A>T (p.Lys2772Ter)
c.8311A>T (p.Lys2771Ter)
c.8161A>T (p.Lys2721Ter)
5g.128261786T>CCA360747298FBN2c.8314A>G (p.Lys2772Glu)
c.8311A>G (p.Lys2771Glu)
c.8161A>G (p.Lys2721Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.128261786T>GCA360747295FBN2c.8314A>C (p.Lys2772Gln)
c.8311A>C (p.Lys2771Gln)
c.8161A>C (p.Lys2721Gln)
5g.128261786T=CA1581234829FBN2c.8314A= (p.Lys2772=)
c.8311A= (p.Lys2771=)
c.8161A= (p.Lys2721=)
5g.128261787A=CA1581234830FBN2c.8313T= (p.Ser2771=)
c.8310T= (p.Ser2770=)
c.8160T= (p.Ser2720=)
5g.128261787A>CCA446305656FBN2c.8313T>G (p.Ser2771=)
c.8310T>G (p.Ser2770=)
c.8160T>G (p.Ser2720=)
 dbSNP gnomAD v2 gnomAD v4
5g.128261787A>GCA446305657FBN2c.8313T>C (p.Ser2771=)
c.8310T>C (p.Ser2770=)
c.8160T>C (p.Ser2720=)
 ClinVar
5g.128261787A>TCA446305658FBN2c.8313T>A (p.Ser2771=)
c.8310T>A (p.Ser2770=)
c.8160T>A (p.Ser2720=)
5g.128261788G>ACA3393852FBN2c.8312C>T (p.Ser2771Phe)
c.8309C>T (p.Ser2770Phe)
c.8159C>T (p.Ser2720Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261788G>CCA360747299FBN2c.8312C>G (p.Ser2771Cys)
c.8309C>G (p.Ser2770Cys)
c.8159C>G (p.Ser2720Cys)
5g.128261788G=CA1581234831FBN2c.8312C= (p.Ser2771=)
c.8309C= (p.Ser2770=)
c.8159C= (p.Ser2720=)
5g.128261788G>TCA360747300FBN2c.8312C>A (p.Ser2771Tyr)
c.8309C>A (p.Ser2770Tyr)
c.8159C>A (p.Ser2720Tyr)
5g.128261789A=CA1581234832FBN2c.8311T= (p.Ser2771=)
c.8308T= (p.Ser2770=)
c.8158T= (p.Ser2720=)
5g.128261789A>CCA360747302FBN2c.8311T>G (p.Ser2771Ala)
c.8308T>G (p.Ser2770Ala)
c.8158T>G (p.Ser2720Ala)
5g.128261789A>GCA127003625FBN2c.8311T>C (p.Ser2771Pro)
c.8308T>C (p.Ser2770Pro)
c.8158T>C (p.Ser2720Pro)
 dbSNP
5g.128261789A>TCA360747303FBN2c.8311T>A (p.Ser2771Thr)
c.8308T>A (p.Ser2770Thr)
c.8158T>A (p.Ser2720Thr)
5g.128261790A=CA1581234833FBN2c.8310T= (p.Tyr2770=)
c.8307T= (p.Tyr2769=)
c.8157T= (p.Tyr2719=)
5g.128261790A>CCA360747304FBN2c.8310T>G (p.Tyr2770Ter)
c.8307T>G (p.Tyr2769Ter)
c.8157T>G (p.Tyr2719Ter)
 dbSNP
5g.128261790A>GCA3393853FBN2c.8310T>C (p.Tyr2770=)
c.8307T>C (p.Tyr2769=)
c.8157T>C (p.Tyr2719=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261790A>TCA360747306FBN2c.8310T>A (p.Tyr2770Ter)
c.8307T>A (p.Tyr2769Ter)
c.8157T>A (p.Tyr2719Ter)
5g.128261791T>ACA360747322FBN2c.8309A>T (p.Tyr2770Phe)
c.8306A>T (p.Tyr2769Phe)
c.8156A>T (p.Tyr2719Phe)
5g.128261791T>CCA3393854FBN2c.8309A>G (p.Tyr2770Cys)
c.8306A>G (p.Tyr2769Cys)
c.8156A>G (p.Tyr2719Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261791T>GCA360747310FBN2c.8309A>C (p.Tyr2770Ser)
c.8306A>C (p.Tyr2769Ser)
c.8156A>C (p.Tyr2719Ser)
5g.128261791T=CA1581234834FBN2c.8309A= (p.Tyr2770=)
c.8306A= (p.Tyr2769=)
c.8156A= (p.Tyr2719=)
5g.128261792A=CA1581234835FBN2c.8308T= (p.Tyr2770=)
c.8305T= (p.Tyr2769=)
c.8155T= (p.Tyr2719=)
5g.128261792A>CCA3393855FBN2c.8308T>G (p.Tyr2770Asp)
c.8305T>G (p.Tyr2769Asp)
c.8155T>G (p.Tyr2719Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261792A>GCA360747328FBN2c.8308T>C (p.Tyr2770His)
c.8305T>C (p.Tyr2769His)
c.8155T>C (p.Tyr2719His)
5g.128261792A>TCA360747330FBN2c.8308T>A (p.Tyr2770Asn)
c.8305T>A (p.Tyr2769Asn)
c.8155T>A (p.Tyr2719Asn)
5g.128261793G>ACA446305659FBN2c.8307C>T (p.Gly2769=)
c.8304C>T (p.Gly2768=)
c.8154C>T (p.Gly2718=)
 dbSNP gnomAD v4
5g.128261793G>CCA446305660FBN2c.8307C>G (p.Gly2769=)
c.8304C>G (p.Gly2768=)
c.8154C>G (p.Gly2718=)
5g.128261793G>TCA446305661FBN2c.8307C>A (p.Gly2769=)
c.8304C>A (p.Gly2768=)
c.8154C>A (p.Gly2718=)
5g.128261794C>ACA360747333FBN2c.8306G>T (p.Gly2769Val)
c.8303G>T (p.Gly2768Val)
c.8153G>T (p.Gly2718Val)
 gnomAD v4
5g.128261794C>GCA360747337FBN2c.8306G>C (p.Gly2769Ala)
c.8303G>C (p.Gly2768Ala)
c.8153G>C (p.Gly2718Ala)
5g.128261794C>TCA360747339FBN2c.8306G>A (p.Gly2769Asp)
c.8303G>A (p.Gly2768Asp)
c.8153G>A (p.Gly2718Asp)
5g.128261795C>ACA360747342FBN2c.8305G>T (p.Gly2769Cys)
c.8302G>T (p.Gly2768Cys)
c.8152G>T (p.Gly2718Cys)
5g.128261795C=CA1581234836FBN2c.8305G= (p.Gly2769=)
c.8302G= (p.Gly2768=)
c.8152G= (p.Gly2718=)
5g.128261795C>GCA360747346FBN2c.8305G>C (p.Gly2769Arg)
c.8302G>C (p.Gly2768Arg)
c.8152G>C (p.Gly2718Arg)
 gnomAD v4
5g.128261795C>TCA3393856FBN2c.8305G>A (p.Gly2769Ser)
c.8302G>A (p.Gly2768Ser)
c.8152G>A (p.Gly2718Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261796G>ACA290901FBN2c.8304C>T (p.Asn2768=)
c.8301C>T (p.Asn2767=)
c.8151C>T (p.Asn2717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261796G>CCA360747347FBN2c.8304C>G (p.Asn2768Lys)
c.8301C>G (p.Asn2767Lys)
c.8151C>G (p.Asn2717Lys)
5g.128261796G=CA1581234837FBN2c.8304C= (p.Asn2768=)
c.8301C= (p.Asn2767=)
c.8151C= (p.Asn2717=)
5g.128261796G>TCA360747352FBN2c.8304C>A (p.Asn2768Lys)
c.8301C>A (p.Asn2767Lys)
c.8151C>A (p.Asn2717Lys)
5g.128261797T>ACA360747363FBN2c.8303A>T (p.Asn2768Ile)
c.8300A>T (p.Asn2767Ile)
c.8150A>T (p.Asn2717Ile)
5g.128261797T>CCA360747359FBN2c.8303A>G (p.Asn2768Ser)
c.8300A>G (p.Asn2767Ser)
c.8150A>G (p.Asn2717Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.128261797T>GCA360747361FBN2c.8303A>C (p.Asn2768Thr)
c.8300A>C (p.Asn2767Thr)
c.8150A>C (p.Asn2717Thr)
5g.128261797T=CA1581234838FBN2c.8303A= (p.Asn2768=)
c.8300A= (p.Asn2767=)
c.8150A= (p.Asn2717=)
5g.128261798T>ACA360747368FBN2c.8302A>T (p.Asn2768Tyr)
c.8299A>T (p.Asn2767Tyr)
c.8149A>T (p.Asn2717Tyr)
5g.128261798T>CCA360747378FBN2c.8302A>G (p.Asn2768Asp)
c.8299A>G (p.Asn2767Asp)
c.8149A>G (p.Asn2717Asp)
5g.128261798T>GCA360747381FBN2c.8302A>C (p.Asn2768His)
c.8299A>C (p.Asn2767His)
c.8149A>C (p.Asn2717His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128261798T=CA1581234839FBN2c.8302A= (p.Asn2768=)
c.8299A= (p.Asn2767=)
c.8149A= (p.Asn2717=)
5g.128261799G>ACA446305663FBN2c.8301C>T (p.Ile2767=)
c.8298C>T (p.Ile2766=)
c.8148C>T (p.Ile2716=)
5g.128261799G>CCA360747383FBN2c.8301C>G (p.Ile2767Met)
c.8298C>G (p.Ile2766Met)
c.8148C>G (p.Ile2716Met)
5g.128261799G=CA1581234840FBN2c.8301C= (p.Ile2767=)
c.8298C= (p.Ile2766=)
c.8148C= (p.Ile2716=)
5g.128261799G>TCA446305662FBN2c.8301C>A (p.Ile2767=)
c.8298C>A (p.Ile2766=)
c.8148C>A (p.Ile2716=)
 dbSNP gnomAD v2 gnomAD v4
5g.128261800A>CCA360747387FBN2c.8300T>G (p.Ile2767Ser)
c.8297T>G (p.Ile2766Ser)
c.8147T>G (p.Ile2716Ser)
5g.128261800A>GCA360747390FBN2c.8300T>C (p.Ile2767Thr)
c.8297T>C (p.Ile2766Thr)
c.8147T>C (p.Ile2716Thr)
5g.128261800A>TCA360747396FBN2c.8300T>A (p.Ile2767Asn)
c.8297T>A (p.Ile2766Asn)
c.8147T>A (p.Ile2716Asn)
5g.128261801T>ACA360747400FBN2c.8299A>T (p.Ile2767Phe)
c.8296A>T (p.Ile2766Phe)
c.8146A>T (p.Ile2716Phe)
5g.128261801T>CCA360747405FBN2c.8299A>G (p.Ile2767Val)
c.8296A>G (p.Ile2766Val)
c.8146A>G (p.Ile2716Val)
5g.128261801T>GCA360747412FBN2c.8299A>C (p.Ile2767Leu)
c.8296A>C (p.Ile2766Leu)
c.8146A>C (p.Ile2716Leu)
5g.128261802T>ACA360747415FBN2c.8298A>T (p.Lys2766Asn)
c.8295A>T (p.Lys2765Asn)
c.8145A>T (p.Lys2715Asn)
5g.128261802T>CCA446305664FBN2c.8298A>G (p.Lys2766=)
c.8295A>G (p.Lys2765=)
c.8145A>G (p.Lys2715=)
5g.128261802T>GCA360747416FBN2c.8298A>C (p.Lys2766Asn)
c.8295A>C (p.Lys2765Asn)
c.8145A>C (p.Lys2715Asn)
5g.128261803T>ACA360747420FBN2c.8297A>T (p.Lys2766Ile)
c.8294A>T (p.Lys2765Ile)
c.8144A>T (p.Lys2715Ile)
 ClinVar dbSNP
5g.128261803T>CCA360747418FBN2c.8297A>G (p.Lys2766Arg)
c.8294A>G (p.Lys2765Arg)
c.8144A>G (p.Lys2715Arg)
5g.128261803T>GCA360747417FBN2c.8297A>C (p.Lys2766Thr)
c.8294A>C (p.Lys2765Thr)
c.8144A>C (p.Lys2715Thr)
5g.128261803T=CA1581234841FBN2c.8297A= (p.Lys2766=)
c.8294A= (p.Lys2765=)
c.8144A= (p.Lys2715=)
5g.128261804T>ACA360747425FBN2c.8296A>T (p.Lys2766Ter)
c.8293A>T (p.Lys2765Ter)
c.8143A>T (p.Lys2715Ter)
5g.128261804T>CCA360747422FBN2c.8296A>G (p.Lys2766Glu)
c.8293A>G (p.Lys2765Glu)
c.8143A>G (p.Lys2715Glu)
 gnomAD v4
5g.128261804T>GCA360747428FBN2c.8296A>C (p.Lys2766Gln)
c.8293A>C (p.Lys2765Gln)
c.8143A>C (p.Lys2715Gln)
5g.128261805G>ACA446305665FBN2c.8295C>T (p.Cys2765=)
c.8292C>T (p.Cys2764=)
c.8142C>T (p.Cys2714=)
 gnomAD v4
5g.128261805G>CCA360747431FBN2c.8295C>G (p.Cys2765Trp)
c.8292C>G (p.Cys2764Trp)
c.8142C>G (p.Cys2714Trp)
5g.128261805G>TCA360747434FBN2c.8295C>A (p.Cys2765Ter)
c.8292C>A (p.Cys2764Ter)
c.8142C>A (p.Cys2714Ter)
5g.128261806C>ACA360747438FBN2c.8294G>T (p.Cys2765Phe)
c.8291G>T (p.Cys2764Phe)
c.8141G>T (p.Cys2714Phe)
5g.128261806C>GCA360747440FBN2c.8294G>C (p.Cys2765Ser)
c.8291G>C (p.Cys2764Ser)
c.8141G>C (p.Cys2714Ser)
5g.128261806C>TCA360747443FBN2c.8294G>A (p.Cys2765Tyr)
c.8291G>A (p.Cys2764Tyr)
c.8141G>A (p.Cys2714Tyr)
5g.128261807A>CCA360747446FBN2c.8293T>G (p.Cys2765Gly)
c.8290T>G (p.Cys2764Gly)
c.8140T>G (p.Cys2714Gly)
 gnomAD v4
5g.128261807A>GCA360747448FBN2c.8293T>C (p.Cys2765Arg)
c.8290T>C (p.Cys2764Arg)
c.8140T>C (p.Cys2714Arg)
5g.128261807A>TCA360747452FBN2c.8293T>A (p.Cys2765Ser)
c.8290T>A (p.Cys2764Ser)
c.8140T>A (p.Cys2714Ser)
 gnomAD v4
5g.128261808C>ACA3393857FBN2c.8292G>T (p.Glu2764Asp)
c.8289G>T (p.Glu2763Asp)
c.8139G>T (p.Glu2713Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261808C=CA1581234842FBN2c.8292G= (p.Glu2764=)
c.8289G= (p.Glu2763=)
c.8139G= (p.Glu2713=)
5g.128261808C>GCA360747458FBN2c.8292G>C (p.Glu2764Asp)
c.8289G>C (p.Glu2763Asp)
c.8139G>C (p.Glu2713Asp)
5g.128261808C>TCA3393858FBN2c.8292G>A (p.Glu2764=)
c.8289G>A (p.Glu2763=)
c.8139G>A (p.Glu2713=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261809T>ACA360747467FBN2c.8291A>T (p.Glu2764Val)
c.8288A>T (p.Glu2763Val)
c.8138A>T (p.Glu2713Val)
5g.128261809T>CCA360747465FBN2c.8291A>G (p.Glu2764Gly)
c.8288A>G (p.Glu2763Gly)
c.8138A>G (p.Glu2713Gly)
5g.128261809T>GCA360747462FBN2c.8291A>C (p.Glu2764Ala)
c.8288A>C (p.Glu2763Ala)
c.8138A>C (p.Glu2713Ala)
5g.128261810C>ACA360747471FBN2c.8290G>T (p.Glu2764Ter)
c.8287G>T (p.Glu2763Ter)
c.8137G>T (p.Glu2713Ter)
5g.128261810C=CA1581234843FBN2c.8290G= (p.Glu2764=)
c.8287G= (p.Glu2763=)
c.8137G= (p.Glu2713=)
5g.128261810C>GCA360747473FBN2c.8290G>C (p.Glu2764Gln)
c.8287G>C (p.Glu2763Gln)
c.8137G>C (p.Glu2713Gln)
5g.128261810C>TCA3393859FBN2c.8290G>A (p.Glu2764Lys)
c.8287G>A (p.Glu2763Lys)
c.8137G>A (p.Glu2713Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261811G>ACA3393860FBN2c.8289C>T (p.Tyr2763=)
c.8286C>T (p.Tyr2762=)
c.8136C>T (p.Tyr2712=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128261811G>CCA360747482FBN2c.8289C>G (p.Tyr2763Ter)
c.8286C>G (p.Tyr2762Ter)
c.8136C>G (p.Tyr2712Ter)
5g.128261811G=CA1581234844FBN2c.8289C= (p.Tyr2763=)
c.8286C= (p.Tyr2762=)
c.8136C= (p.Tyr2712=)
5g.128261811G>TCA360747483FBN2c.8289C>A (p.Tyr2763Ter)
c.8286C>A (p.Tyr2762Ter)
c.8136C>A (p.Tyr2712Ter)
5g.128261812T>ACA360747487FBN2c.8288A>T (p.Tyr2763Phe)
c.8285A>T (p.Tyr2762Phe)
c.8135A>T (p.Tyr2712Phe)
5g.128261812T>CCA360747490FBN2c.8288A>G (p.Tyr2763Cys)
c.8285A>G (p.Tyr2762Cys)
c.8135A>G (p.Tyr2712Cys)
5g.128261812T>GCA360747493FBN2c.8288A>C (p.Tyr2763Ser)
c.8285A>C (p.Tyr2762Ser)
c.8135A>C (p.Tyr2712Ser)
5g.128261813A>CCA360747503FBN2c.8287T>G (p.Tyr2763Asp)
c.8284T>G (p.Tyr2762Asp)
c.8134T>G (p.Tyr2712Asp)
5g.128261813A>GCA360747506FBN2c.8287T>C (p.Tyr2763His)
c.8284T>C (p.Tyr2762His)
c.8134T>C (p.Tyr2712His)
5g.128261813A>TCA360747510FBN2c.8287T>A (p.Tyr2763Asn)
c.8284T>A (p.Tyr2762Asn)
c.8134T>A (p.Tyr2712Asn)
5g.128261814G>ACA3393861FBN2c.8286C>T (p.Cys2762=)
c.8283C>T (p.Cys2761=)
c.8133C>T (p.Cys2711=)
 dbSNP ExAC gnomAD v2
5g.128261814G>CCA360747520FBN2c.8286C>G (p.Cys2762Trp)
c.8283C>G (p.Cys2761Trp)
c.8133C>G (p.Cys2711Trp)
5g.128261814G=CA1581234845FBN2c.8286C= (p.Cys2762=)
c.8283C= (p.Cys2761=)
c.8133C= (p.Cys2711=)
5g.128261814G>TCA360747515FBN2c.8286C>A (p.Cys2762Ter)
c.8283C>A (p.Cys2761Ter)
c.8133C>A (p.Cys2711Ter)
5g.128261815C>ACA360747524FBN2c.8285G>T (p.Cys2762Phe)
c.8282G>T (p.Cys2761Phe)
c.8132G>T (p.Cys2711Phe)
5g.128261815C>GCA360747527FBN2c.8285G>C (p.Cys2762Ser)
c.8282G>C (p.Cys2761Ser)
c.8132G>C (p.Cys2711Ser)
5g.128261815C>TCA360747529FBN2c.8285G>A (p.Cys2762Tyr)
c.8282G>A (p.Cys2761Tyr)
c.8132G>A (p.Cys2711Tyr)
5g.128261816A>CCA360747532FBN2c.8284T>G (p.Cys2762Gly)
c.8281T>G (p.Cys2761Gly)
c.8131T>G (p.Cys2711Gly)
5g.128261816A>GCA360747535FBN2c.8284T>C (p.Cys2762Arg)
c.8281T>C (p.Cys2761Arg)
c.8131T>C (p.Cys2711Arg)
5g.128261816A>TCA360747537FBN2c.8284T>A (p.Cys2762Ser)
c.8281T>A (p.Cys2761Ser)
c.8131T>A (p.Cys2711Ser)
5g.128261817T>ACA446305666FBN2c.8283A>T (p.Ala2761=)
c.8280A>T (p.Ala2760=)
c.8130A>T (p.Ala2710=)
5g.128261817T>CCA446305668FBN2c.8283A>G (p.Ala2761=)
c.8280A>G (p.Ala2760=)
c.8130A>G (p.Ala2710=)
 ClinVar dbSNP
5g.128261817T>GCA446305667FBN2c.8283A>C (p.Ala2761=)
c.8280A>C (p.Ala2760=)
c.8130A>C (p.Ala2710=)
5g.128261817T=CA1581234846FBN2c.8283A= (p.Ala2761=)
c.8280A= (p.Ala2760=)
c.8130A= (p.Ala2710=)
5g.128261818G>ACA322766FBN2c.8282C>T (p.Ala2761Val)
c.8279C>T (p.Ala2760Val)
c.8129C>T (p.Ala2710Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261818G>CCA360747540FBN2c.8282C>G (p.Ala2761Gly)
c.8279C>G (p.Ala2760Gly)
c.8129C>G (p.Ala2710Gly)
5g.128261818G=CA1581234847FBN2c.8282C= (p.Ala2761=)
c.8279C= (p.Ala2760=)
c.8129C= (p.Ala2710=)
5g.128261818G>TCA360747541FBN2c.8282C>A (p.Ala2761Glu)
c.8279C>A (p.Ala2760Glu)
c.8129C>A (p.Ala2710Glu)
5g.128261819C>ACA360747542FBN2c.8281G>T (p.Ala2761Ser)
c.8278G>T (p.Ala2760Ser)
c.8128G>T (p.Ala2710Ser)
5g.128261819C>GCA360747544FBN2c.8281G>C (p.Ala2761Pro)
c.8278G>C (p.Ala2760Pro)
c.8128G>C (p.Ala2710Pro)
5g.128261819C>TCA360747547FBN2c.8281G>A (p.Ala2761Thr)
c.8278G>A (p.Ala2760Thr)
c.8128G>A (p.Ala2710Thr)
5g.128261820T>ACA360747551FBN2c.8280A>T (p.Glu2760Asp)
c.8277A>T (p.Glu2759Asp)
c.8127A>T (p.Glu2709Asp)
5g.128261820T>CCA446305669FBN2c.8280A>G (p.Glu2760=)
c.8277A>G (p.Glu2759=)
c.8127A>G (p.Glu2709=)
 gnomAD v4
5g.128261820T>GCA360747553FBN2c.8280A>C (p.Glu2760Asp)
c.8277A>C (p.Glu2759Asp)
c.8127A>C (p.Glu2709Asp)
5g.128261821T>ACA360747587FBN2c.8279A>T (p.Glu2760Val)
c.8276A>T (p.Glu2759Val)
c.8126A>T (p.Glu2709Val)
5g.128261821T>CCA360747588FBN2c.8279A>G (p.Glu2760Gly)
c.8276A>G (p.Glu2759Gly)
c.8126A>G (p.Glu2709Gly)
5g.128261821T>GCA322789FBN2c.8279A>C (p.Glu2760Ala)
c.8276A>C (p.Glu2759Ala)
c.8126A>C (p.Glu2709Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261821T=CA1581234848FBN2c.8279A= (p.Glu2760=)
c.8276A= (p.Glu2759=)
c.8126A= (p.Glu2709=)
5g.128261822C>ACA360747589FBN2c.8278G>T (p.Glu2760Ter)
c.8275G>T (p.Glu2759Ter)
c.8125G>T (p.Glu2709Ter)
5g.128261822C>GCA360747591FBN2c.8278G>C (p.Glu2760Gln)
c.8275G>C (p.Glu2759Gln)
c.8125G>C (p.Glu2709Gln)
5g.128261822C>TCA360747593FBN2c.8278G>A (p.Glu2760Lys)
c.8275G>A (p.Glu2759Lys)
c.8125G>A (p.Glu2709Lys)
5g.128261823T>ACA446305670FBN2c.8277A>T (p.Pro2759=)
c.8274A>T (p.Pro2758=)
c.8124A>T (p.Pro2708=)
5g.128261823T>CCA446305671FBN2c.8277A>G (p.Pro2759=)
c.8274A>G (p.Pro2758=)
c.8124A>G (p.Pro2708=)
 gnomAD v4
5g.128261823T>GCA446305672FBN2c.8277A>C (p.Pro2759=)
c.8274A>C (p.Pro2758=)
c.8124A>C (p.Pro2708=)
5g.128261824G>ACA360747594FBN2c.8276C>T (p.Pro2759Leu)
c.8273C>T (p.Pro2758Leu)
c.8123C>T (p.Pro2708Leu)
5g.128261824G>CCA360747596FBN2c.8276C>G (p.Pro2759Arg)
c.8273C>G (p.Pro2758Arg)
c.8123C>G (p.Pro2708Arg)
5g.128261824G>TCA360747599FBN2c.8276C>A (p.Pro2759Gln)
c.8273C>A (p.Pro2758Gln)
c.8123C>A (p.Pro2708Gln)
5g.128261825G>ACA360747601FBN2c.8275C>T (p.Pro2759Ser)
c.8272C>T (p.Pro2758Ser)
c.8122C>T (p.Pro2708Ser)
 gnomAD v4
5g.128261825G>CCA360747602FBN2c.8275C>G (p.Pro2759Ala)
c.8272C>G (p.Pro2758Ala)
c.8122C>G (p.Pro2708Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128261825G=CA1581234849FBN2c.8275C= (p.Pro2759=)
c.8272C= (p.Pro2758=)
c.8122C= (p.Pro2708=)
5g.128261825G>TCA360747603FBN2c.8275C>A (p.Pro2759Thr)
c.8272C>A (p.Pro2758Thr)
c.8122C>A (p.Pro2708Thr)
 gnomAD v4 COSMIC COSMIC
5g.128261826G>ACA288843FBN2c.8274C>T (p.Ser2758=)
c.8271C>T (p.Ser2757=)
c.8121C>T (p.Ser2707=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261826G>CCA446305673FBN2c.8274C>G (p.Ser2758=)
c.8271C>G (p.Ser2757=)
c.8121C>G (p.Ser2707=)
5g.128261826G=CA1581234850FBN2c.8274C= (p.Ser2758=)
c.8271C= (p.Ser2757=)
c.8121C= (p.Ser2707=)
5g.128261826G>TCA446305674FBN2c.8274C>A (p.Ser2758=)
c.8271C>A (p.Ser2757=)
c.8121C>A (p.Ser2707=)
 dbSNP
5g.128261827G>ACA360747615FBN2c.8273C>T (p.Ser2758Phe)
c.8270C>T (p.Ser2757Phe)
c.8120C>T (p.Ser2707Phe)
 dbSNP
5g.128261827G>CCA360747617FBN2c.8273C>G (p.Ser2758Cys)
c.8270C>G (p.Ser2757Cys)
c.8120C>G (p.Ser2707Cys)
5g.128261827G=CA1581234851FBN2c.8273C= (p.Ser2758=)
c.8270C= (p.Ser2757=)
c.8120C= (p.Ser2707=)
5g.128261827G>TCA360747632FBN2c.8273C>A (p.Ser2758Tyr)
c.8270C>A (p.Ser2757Tyr)
c.8120C>A (p.Ser2707Tyr)
5g.128261828A>CCA360747637FBN2c.8272T>G (p.Ser2758Ala)
c.8269T>G (p.Ser2757Ala)
c.8119T>G (p.Ser2707Ala)
5g.128261828A>GCA360747640FBN2c.8272T>C (p.Ser2758Pro)
c.8269T>C (p.Ser2757Pro)
c.8119T>C (p.Ser2707Pro)
5g.128261828A>TCA360747634FBN2c.8272T>A (p.Ser2758Thr)
c.8269T>A (p.Ser2757Thr)
c.8119T>A (p.Ser2707Thr)
5g.128261829C>ACA446305675FBN2c.8271G>T (p.Leu2757=)
c.8268G>T (p.Leu2756=)
c.8118G>T (p.Leu2706=)
5g.128261829C=CA1581234852FBN2c.8271G= (p.Leu2757=)
c.8268G= (p.Leu2756=)
c.8118G= (p.Leu2706=)
5g.128261829C>GCA446305676FBN2c.8271G>C (p.Leu2757=)
c.8268G>C (p.Leu2756=)
c.8118G>C (p.Leu2706=)
5g.128261829C>TCA3393862FBN2c.8271G>A (p.Leu2757=)
c.8268G>A (p.Leu2756=)
c.8118G>A (p.Leu2706=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261830A=CA1581234853FBN2c.8270T= (p.Leu2757=)
c.8267T= (p.Leu2756=)
c.8117T= (p.Leu2706=)
5g.128261830A>CCA360747650FBN2c.8270T>G (p.Leu2757Arg)
c.8267T>G (p.Leu2756Arg)
c.8117T>G (p.Leu2706Arg)
5g.128261830A>GCA360747648FBN2c.8270T>C (p.Leu2757Pro)
c.8267T>C (p.Leu2756Pro)
c.8117T>C (p.Leu2706Pro)
5g.128261830A>TCA3393863FBN2c.8270T>A (p.Leu2757Gln)
c.8267T>A (p.Leu2756Gln)
c.8117T>A (p.Leu2706Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261831G>ACA446305677FBN2c.8269C>T (p.Leu2757=)
c.8266C>T (p.Leu2756=)
c.8116C>T (p.Leu2706=)
 dbSNP gnomAD v2 gnomAD v4
5g.128261831G>CCA3393864FBN2c.8269C>G (p.Leu2757Val)
c.8266C>G (p.Leu2756Val)
c.8116C>G (p.Leu2706Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261831G=CA1581234854FBN2c.8269C= (p.Leu2757=)
c.8266C= (p.Leu2756=)
c.8116C= (p.Leu2706=)
5g.128261831G>TCA360747656FBN2c.8269C>A (p.Leu2757Met)
c.8266C>A (p.Leu2756Met)
c.8116C>A (p.Leu2706Met)
5g.128261832A>CCA446305678FBN2c.8268T>G (p.Ala2756=)
c.8265T>G (p.Ala2755=)
c.8115T>G (p.Ala2705=)
5g.128261832A>GCA446305679FBN2c.8268T>C (p.Ala2756=)
c.8265T>C (p.Ala2755=)
c.8115T>C (p.Ala2705=)
 gnomAD v4
5g.128261832A>TCA446305680FBN2c.8268T>A (p.Ala2756=)
c.8265T>A (p.Ala2755=)
c.8115T>A (p.Ala2705=)
5g.128261833G>ACA360747659FBN2c.8267C>T (p.Ala2756Val)
c.8264C>T (p.Ala2755Val)
c.8114C>T (p.Ala2705Val)
5g.128261833G>CCA360747660FBN2c.8267C>G (p.Ala2756Gly)
c.8264C>G (p.Ala2755Gly)
c.8114C>G (p.Ala2705Gly)
5g.128261833G>TCA360747661FBN2c.8267C>A (p.Ala2756Asp)
c.8264C>A (p.Ala2755Asp)
c.8114C>A (p.Ala2705Asp)
5g.128261834C>ACA360747664FBN2c.8266G>T (p.Ala2756Ser)
c.8263G>T (p.Ala2755Ser)
c.8113G>T (p.Ala2705Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128261834C=CA1581234855FBN2c.8266G= (p.Ala2756=)
c.8263G= (p.Ala2755=)
c.8113G= (p.Ala2705=)
5g.128261834C>GCA360747667FBN2c.8266G>C (p.Ala2756Pro)
c.8263G>C (p.Ala2755Pro)
c.8113G>C (p.Ala2705Pro)
5g.128261834C>TCA360747670FBN2c.8266G>A (p.Ala2756Thr)
c.8263G>A (p.Ala2755Thr)
c.8113G>A (p.Ala2705Thr)
5g.128261835A>CCA360747673FBN2c.8265T>G (p.Asn2755Lys)
c.8262T>G (p.Asn2754Lys)
c.8112T>G (p.Asn2704Lys)
5g.128261835A>GCA446305681FBN2c.8265T>C (p.Asn2755=)
c.8262T>C (p.Asn2754=)
c.8112T>C (p.Asn2704=)
 gnomAD v4
5g.128261835A>TCA360747676FBN2c.8265T>A (p.Asn2755Lys)
c.8262T>A (p.Asn2754Lys)
c.8112T>A (p.Asn2704Lys)
5g.128261836T>ACA360747683FBN2c.8264A>T (p.Asn2755Ile)
c.8261A>T (p.Asn2754Ile)
c.8111A>T (p.Asn2704Ile)
5g.128261836T>CCA360747687FBN2c.8264A>G (p.Asn2755Ser)
c.8261A>G (p.Asn2754Ser)
c.8111A>G (p.Asn2704Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.128261836T>GCA360747688FBN2c.8264A>C (p.Asn2755Thr)
c.8261A>C (p.Asn2754Thr)
c.8111A>C (p.Asn2704Thr)
5g.128261836T=CA1581234856FBN2c.8264A= (p.Asn2755=)
c.8261A= (p.Asn2754=)
c.8111A= (p.Asn2704=)
5g.128261837T>ACA360747689FBN2c.8263A>T (p.Asn2755Tyr)
c.8260A>T (p.Asn2754Tyr)
c.8110A>T (p.Asn2704Tyr)
5g.128261837T>CCA360747700FBN2c.8263A>G (p.Asn2755Asp)
c.8260A>G (p.Asn2754Asp)
c.8110A>G (p.Asn2704Asp)
5g.128261837T>GCA360747691FBN2c.8263A>C (p.Asn2755His)
c.8260A>C (p.Asn2754His)
c.8110A>C (p.Asn2704His)
5g.128261838T>ACA360747702FBN2c.8262A>T (p.Glu2754Asp)
c.8259A>T (p.Glu2753Asp)
c.8109A>T (p.Glu2703Asp)
5g.128261838T>CCA446305682FBN2c.8262A>G (p.Glu2754=)
c.8259A>G (p.Glu2753=)
c.8109A>G (p.Glu2703=)
5g.128261838T>GCA360747704FBN2c.8262A>C (p.Glu2754Asp)
c.8259A>C (p.Glu2753Asp)
c.8109A>C (p.Glu2703Asp)
5g.128261839T>ACA360747707FBN2c.8261A>T (p.Glu2754Val)
c.8258A>T (p.Glu2753Val)
c.8108A>T (p.Glu2703Val)
5g.128261839T>CCA360747710FBN2c.8261A>G (p.Glu2754Gly)
c.8258A>G (p.Glu2753Gly)
c.8108A>G (p.Glu2703Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128261839T>GCA360747713FBN2c.8261A>C (p.Glu2754Ala)
c.8258A>C (p.Glu2753Ala)
c.8108A>C (p.Glu2703Ala)
5g.128261839T=CA1581234857FBN2c.8261A= (p.Glu2754=)
c.8258A= (p.Glu2753=)
c.8108A= (p.Glu2703=)
5g.128261840C>ACA360747716FBN2c.8260G>T (p.Glu2754Ter)
c.8257G>T (p.Glu2753Ter)
c.8107G>T (p.Glu2703Ter)
5g.128261840C=CA1581234858FBN2c.8260G= (p.Glu2754=)
c.8257G= (p.Glu2753=)
c.8107G= (p.Glu2703=)
5g.128261840C>GCA360747719FBN2c.8260G>C (p.Glu2754Gln)
c.8257G>C (p.Glu2753Gln)
c.8107G>C (p.Glu2703Gln)
5g.128261840C>TCA127003764FBN2c.8260G>A (p.Glu2754Lys)
c.8257G>A (p.Glu2753Lys)
c.8107G>A (p.Glu2703Lys)
 dbSNP
5g.128261841C>ACA360747727FBN2c.8259G>T (p.Glu2753Asp)
c.8256G>T (p.Glu2752Asp)
c.8106G>T (p.Glu2702Asp)
5g.128261841C=CA1581234859FBN2c.8259G= (p.Glu2753=)
c.8256G= (p.Glu2752=)
c.8106G= (p.Glu2702=)
5g.128261841C>GCA360747729FBN2c.8259G>C (p.Glu2753Asp)
c.8256G>C (p.Glu2752Asp)
c.8106G>C (p.Glu2702Asp)
 gnomAD v4
5g.128261841C>TCA446305683FBN2c.8259G>A (p.Glu2753=)
c.8256G>A (p.Glu2752=)
c.8106G>A (p.Glu2702=)
 dbSNP gnomAD v2
5g.128261842T>ACA360747738FBN2c.8258A>T (p.Glu2753Val)
c.8255A>T (p.Glu2752Val)
c.8105A>T (p.Glu2702Val)
5g.128261842T>CCA360747737FBN2c.8258A>G (p.Glu2753Gly)
c.8255A>G (p.Glu2752Gly)
c.8105A>G (p.Glu2702Gly)
5g.128261842T>GCA360747734FBN2c.8258A>C (p.Glu2753Ala)
c.8255A>C (p.Glu2752Ala)
c.8105A>C (p.Glu2702Ala)
5g.128261843C>ACA360747739FBN2c.8257G>T (p.Glu2753Ter)
c.8254G>T (p.Glu2752Ter)
c.8104G>T (p.Glu2702Ter)
 gnomAD v4
5g.128261843C=CA1581234860FBN2c.8257G= (p.Glu2753=)
c.8254G= (p.Glu2752=)
c.8104G= (p.Glu2702=)
5g.128261843C>GCA360747743FBN2c.8257G>C (p.Glu2753Gln)
c.8254G>C (p.Glu2752Gln)
c.8104G>C (p.Glu2702Gln)
5g.128261843C>TCA323462FBN2c.8257G>A (p.Glu2753Lys)
c.8254G>A (p.Glu2752Lys)
c.8104G>A (p.Glu2702Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261844A>CCA360747747FBN2c.8256T>G (p.Asp2752Glu)
c.8253T>G (p.Asp2751Glu)
c.8103T>G (p.Asp2701Glu)
5g.128261844A>GCA446305684FBN2c.8256T>C (p.Asp2752=)
c.8253T>C (p.Asp2751=)
c.8103T>C (p.Asp2701=)
5g.128261844A>TCA360747750FBN2c.8256T>A (p.Asp2752Glu)
c.8253T>A (p.Asp2751Glu)
c.8103T>A (p.Asp2701Glu)
5g.128261845T>ACA360747756FBN2c.8255A>T (p.Asp2752Val)
c.8252A>T (p.Asp2751Val)
c.8102A>T (p.Asp2701Val)
5g.128261845T>CCA360747759FBN2c.8255A>G (p.Asp2752Gly)
c.8252A>G (p.Asp2751Gly)
c.8102A>G (p.Asp2701Gly)
 gnomAD v4
5g.128261845T>GCA360747763FBN2c.8255A>C (p.Asp2752Ala)
c.8252A>C (p.Asp2751Ala)
c.8102A>C (p.Asp2701Ala)
5g.128261846C>ACA360747766FBN2c.8254G>T (p.Asp2752Tyr)
c.8251G>T (p.Asp2751Tyr)
c.8101G>T (p.Asp2701Tyr)
5g.128261846C=CA1581234861FBN2c.8254G= (p.Asp2752=)
c.8251G= (p.Asp2751=)
c.8101G= (p.Asp2701=)
5g.128261846C>GCA360747771FBN2c.8254G>C (p.Asp2752His)
c.8251G>C (p.Asp2751His)
c.8101G>C (p.Asp2701His)
5g.128261846C>TCA3393865FBN2c.8254G>A (p.Asp2752Asn)
c.8251G>A (p.Asp2751Asn)
c.8101G>A (p.Asp2701Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128261847G>ACA3393866FBN2c.8253C>T (p.Val2751=)
c.8250C>T (p.Val2750=)
c.8100C>T (p.Val2700=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128261847G>CCA446305685FBN2c.8253C>G (p.Val2751=)
c.8250C>G (p.Val2750=)
c.8100C>G (p.Val2700=)
5g.128261847G=CA1581234862FBN2c.8253C= (p.Val2751=)
c.8250C= (p.Val2750=)
c.8100C= (p.Val2700=)
5g.128261847G>TCA446305686FBN2c.8253C>A (p.Val2751=)
c.8250C>A (p.Val2750=)
c.8100C>A (p.Val2700=)
 gnomAD v4
5g.128261848A=CA1581234863FBN2c.8252T= (p.Val2751=)
c.8249T= (p.Val2750=)
c.8099T= (p.Val2700=)
5g.128261848A>CCA360747788FBN2c.8252T>G (p.Val2751Gly)
c.8249T>G (p.Val2750Gly)
c.8099T>G (p.Val2700Gly)
 dbSNP
5g.128261848A>GCA360747783FBN2c.8252T>C (p.Val2751Ala)
c.8249T>C (p.Val2750Ala)
c.8099T>C (p.Val2700Ala)
5g.128261848A>TCA360747787FBN2c.8252T>A (p.Val2751Asp)
c.8249T>A (p.Val2750Asp)
c.8099T>A (p.Val2700Asp)
5g.128261849C>ACA3393867FBN2c.8251G>T (p.Val2751Phe)
c.8248G>T (p.Val2750Phe)
c.8098G>T (p.Val2700Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128261849C=CA1581234864FBN2c.8251G= (p.Val2751=)
c.8248G= (p.Val2750=)
c.8098G= (p.Val2700=)
5g.128261849C>GCA360747789FBN2c.8251G>C (p.Val2751Leu)
c.8248G>C (p.Val2750Leu)
c.8098G>C (p.Val2700Leu)
5g.128261849C>TCA3393868FBN2c.8251G>A (p.Val2751Ile)
c.8248G>A (p.Val2750Ile)
c.8098G>A (p.Val2700Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261850C>ACA360747798FBN2c.8250G>T (p.Glu2750Asp)
c.8247G>T (p.Glu2749Asp)
c.8097G>T (p.Glu2699Asp)
5g.128261850C>GCA360747802FBN2c.8250G>C (p.Glu2750Asp)
c.8247G>C (p.Glu2749Asp)
c.8097G>C (p.Glu2699Asp)
5g.128261850C>TCA446305687FBN2c.8250G>A (p.Glu2750=)
c.8247G>A (p.Glu2749=)
c.8097G>A (p.Glu2699=)
 gnomAD v4
5g.128261851T>ACA360747806FBN2c.8249A>T (p.Glu2750Val)
c.8246A>T (p.Glu2749Val)
c.8096A>T (p.Glu2699Val)
 gnomAD v4
5g.128261851T>CCA360747809FBN2c.8249A>G (p.Glu2750Gly)
c.8246A>G (p.Glu2749Gly)
c.8096A>G (p.Glu2699Gly)
5g.128261851T>GCA360747813FBN2c.8249A>C (p.Glu2750Ala)
c.8246A>C (p.Glu2749Ala)
c.8096A>C (p.Glu2699Ala)
5g.128261852C>ACA360747817FBN2c.8248G>T (p.Glu2750Ter)
c.8245G>T (p.Glu2749Ter)
c.8095G>T (p.Glu2699Ter)
5g.128261852C>GCA360747818FBN2c.8248G>C (p.Glu2750Gln)
c.8245G>C (p.Glu2749Gln)
c.8095G>C (p.Glu2699Gln)
5g.128261852C>TCA360747819FBN2c.8248G>A (p.Glu2750Lys)
c.8245G>A (p.Glu2749Lys)
c.8095G>A (p.Glu2699Lys)
5g.128261853T>ACA446305688FBN2c.8247A>T (p.Thr2749=)
c.8244A>T (p.Thr2748=)
c.8094A>T (p.Thr2698=)
5g.128261853T>CCA211158FBN2c.8247A>G (p.Thr2749=)
c.8244A>G (p.Thr2748=)
c.8094A>G (p.Thr2698=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128261853T>GCA446305689FBN2c.8247A>C (p.Thr2749=)
c.8244A>C (p.Thr2748=)
c.8094A>C (p.Thr2698=)
5g.128261853T=CA1581234865FBN2c.8247A= (p.Thr2749=)
c.8244A= (p.Thr2748=)
c.8094A= (p.Thr2698=)
5g.128261854G>ACA360747823FBN2c.8246C>T (p.Thr2749Ile)
c.8243C>T (p.Thr2748Ile)
c.8093C>T (p.Thr2698Ile)
5g.128261854G>CCA360747829FBN2c.8246C>G (p.Thr2749Arg)
c.8243C>G (p.Thr2748Arg)
c.8093C>G (p.Thr2698Arg)
5g.128261854G>TCA360747821FBN2c.8246C>A (p.Thr2749Lys)
c.8243C>A (p.Thr2748Lys)
c.8093C>A (p.Thr2698Lys)
5g.128261855T>ACA360747844FBN2c.8245A>T (p.Thr2749Ser)
c.8242A>T (p.Thr2748Ser)
c.8092A>T (p.Thr2698Ser)
5g.128261855T>CCA360747834FBN2c.8245A>G (p.Thr2749Ala)
c.8242A>G (p.Thr2748Ala)
c.8092A>G (p.Thr2698Ala)
 gnomAD v4
5g.128261855T>GCA360747841FBN2c.8245A>C (p.Thr2749Pro)
c.8242A>C (p.Thr2748Pro)
c.8092A>C (p.Thr2698Pro)
5g.128261856A=CA1581234866FBN2c.8244T= (p.Asp2748=)
c.8241T= (p.Asp2747=)
c.8091T= (p.Asp2697=)
5g.128261856A>CCA360747849FBN2c.8244T>G (p.Asp2748Glu)
c.8241T>G (p.Asp2747Glu)
c.8091T>G (p.Asp2697Glu)
5g.128261856A>GCA446305690FBN2c.8244T>C (p.Asp2748=)
c.8241T>C (p.Asp2747=)
c.8091T>C (p.Asp2697=)
 dbSNP gnomAD v3 gnomAD v4
5g.128261856A>TCA360747854FBN2c.8244T>A (p.Asp2748Glu)
c.8241T>A (p.Asp2747Glu)
c.8091T>A (p.Asp2697Glu)
5g.128261857T>ACA360747856FBN2c.8243A>T (p.Asp2748Val)
c.8240A>T (p.Asp2747Val)
c.8090A>T (p.Asp2697Val)
5g.128261857T>CCA360747859FBN2c.8243A>G (p.Asp2748Gly)
c.8240A>G (p.Asp2747Gly)
c.8090A>G (p.Asp2697Gly)
5g.128261857T>GCA360747866FBN2c.8243A>C (p.Asp2748Ala)
c.8240A>C (p.Asp2747Ala)
c.8090A>C (p.Asp2697Ala)

Number of alleles fetched