Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128344345C>ACA3395259FBN2c.3343+40G>T (n.3343+40G>T)
c.3244+40G>T (n.3244+40G>T)
c.3340+40G>T (n.3340+40G>T)
c.3190+40G>T (n.3190+40G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344345C=CA1581273706FBN2c.3343+40G= (n.3343+40G=)
c.3244+40G= (n.3244+40G=)
c.3340+40G= (n.3340+40G=)
c.3190+40G= (n.3190+40G=)
5g.128344345C>GCA2578444191FBN2c.3343+40G>C (n.3343+40G>C)
c.3244+40G>C (n.3244+40G>C)
c.3340+40G>C (n.3340+40G>C)
c.3190+40G>C (n.3190+40G>C)
5g.128344345C>TCA2675118125FBN2c.3343+40G>A (n.3343+40G>A)
c.3244+40G>A (n.3244+40G>A)
c.3340+40G>A (n.3340+40G>A)
c.3190+40G>A (n.3190+40G>A)
 gnomAD v4
5g.128344346A=CA1581273707FBN2c.3343+39T= (n.3343+39T=)
c.3244+39T= (n.3244+39T=)
c.3340+39T= (n.3340+39T=)
c.3190+39T= (n.3190+39T=)
5g.128344346A>GCA3395260FBN2c.3343+39T>C (n.3343+39T>C)
c.3244+39T>C (n.3244+39T>C)
c.3340+39T>C (n.3340+39T>C)
c.3190+39T>C (n.3190+39T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344346A>TCA2675118126FBN2c.3343+39T>A (n.3343+39T>A)
c.3244+39T>A (n.3244+39T>A)
c.3340+39T>A (n.3340+39T>A)
c.3190+39T>A (n.3190+39T>A)
 gnomAD v4
5g.128344347G>TCA2675118127FBN2c.3343+38C>A (n.3343+38C>A)
c.3244+38C>A (n.3244+38C>A)
c.3340+38C>A (n.3340+38C>A)
c.3190+38C>A (n.3190+38C>A)
 gnomAD v4
5g.128344349delCA2675118128FBN2c.3343+37del (n.3343+37del)
c.3244+37del (n.3244+37del)
c.3340+37del (n.3340+37del)
c.3190+37del (n.3190+37del)
 gnomAD v4
5g.128344349C=CA1581273708FBN2c.3343+36G= (n.3343+36G=)
c.3244+36G= (n.3244+36G=)
c.3340+36G= (n.3340+36G=)
c.3190+36G= (n.3190+36G=)
5g.128344349C>TCA3395261FBN2c.3343+36G>A (n.3343+36G>A)
c.3244+36G>A (n.3244+36G>A)
c.3340+36G>A (n.3340+36G>A)
c.3190+36G>A (n.3190+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344350A=CA1581273709FBN2c.3343+35T= (n.3343+35T=)
c.3244+35T= (n.3244+35T=)
c.3340+35T= (n.3340+35T=)
c.3190+35T= (n.3190+35T=)
5g.128344350A>CCA2581463893FBN2c.3343+35T>G (n.3343+35T>G)
c.3244+35T>G (n.3244+35T>G)
c.3340+35T>G (n.3340+35T>G)
c.3190+35T>G (n.3190+35T>G)
5g.128344350A>GCA2581463894FBN2c.3343+35T>C (n.3343+35T>C)
c.3244+35T>C (n.3244+35T>C)
c.3340+35T>C (n.3340+35T>C)
c.3190+35T>C (n.3190+35T>C)
 gnomAD v4
5g.128344350A>TCA3395262FBN2c.3343+35T>A (n.3343+35T>A)
c.3244+35T>A (n.3244+35T>A)
c.3340+35T>A (n.3340+35T>A)
c.3190+35T>A (n.3190+35T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344351G>ACA3395263FBN2c.3343+34C>T (n.3343+34C>T)
c.3244+34C>T (n.3244+34C>T)
c.3340+34C>T (n.3340+34C>T)
c.3190+34C>T (n.3190+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344351G>CCA2578444192FBN2c.3343+34C>G (n.3343+34C>G)
c.3244+34C>G (n.3244+34C>G)
c.3340+34C>G (n.3340+34C>G)
c.3190+34C>G (n.3190+34C>G)
 gnomAD v4
5g.128344351G=CA1581273710FBN2c.3343+34C= (n.3343+34C=)
c.3244+34C= (n.3244+34C=)
c.3340+34C= (n.3340+34C=)
c.3190+34C= (n.3190+34C=)
5g.128344352A>GCA2675118129FBN2c.3343+33T>C (n.3343+33T>C)
c.3244+33T>C (n.3244+33T>C)
c.3340+33T>C (n.3340+33T>C)
c.3190+33T>C (n.3190+33T>C)
 gnomAD v4
5g.128344353G>ACA562717039FBN2c.3343+32C>T (n.3343+32C>T)
c.3244+32C>T (n.3244+32C>T)
c.3340+32C>T (n.3340+32C>T)
c.3190+32C>T (n.3190+32C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344353G>CCA3395264FBN2c.3343+32C>G (n.3343+32C>G)
c.3244+32C>G (n.3244+32C>G)
c.3340+32C>G (n.3340+32C>G)
c.3190+32C>G (n.3190+32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128344353G=CA1581273711FBN2c.3343+32C= (n.3343+32C=)
c.3244+32C= (n.3244+32C=)
c.3340+32C= (n.3340+32C=)
c.3190+32C= (n.3190+32C=)
5g.128344357A=CA1581273712FBN2c.3343+28T= (n.3343+28T=)
c.3244+28T= (n.3244+28T=)
c.3340+28T= (n.3340+28T=)
c.3190+28T= (n.3190+28T=)
5g.128344357A>TCA803642642FBN2c.3343+28T>A (n.3343+28T>A)
c.3244+28T>A (n.3244+28T>A)
c.3340+28T>A (n.3340+28T>A)
c.3190+28T>A (n.3190+28T>A)
 dbSNP
5g.128344358T>CCA3395265FBN2c.3343+27A>G (n.3343+27A>G)
c.3244+27A>G (n.3244+27A>G)
c.3340+27A>G (n.3340+27A>G)
c.3190+27A>G (n.3190+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344358T=CA1581273713FBN2c.3343+27A= (n.3343+27A=)
c.3244+27A= (n.3244+27A=)
c.3340+27A= (n.3340+27A=)
c.3190+27A= (n.3190+27A=)
5g.128344361A>TCA2675118130FBN2c.3343+24T>A (n.3343+24T>A)
c.3244+24T>A (n.3244+24T>A)
c.3340+24T>A (n.3340+24T>A)
c.3190+24T>A (n.3190+24T>A)
 gnomAD v4
5g.128344362A=CA1581273714FBN2c.3343+23T= (n.3343+23T=)
c.3244+23T= (n.3244+23T=)
c.3340+23T= (n.3340+23T=)
c.3190+23T= (n.3190+23T=)
5g.128344362A>GCA3395266FBN2c.3343+23T>C (n.3343+23T>C)
c.3244+23T>C (n.3244+23T>C)
c.3340+23T>C (n.3340+23T>C)
c.3190+23T>C (n.3190+23T>C)
 dbSNP ExAC
5g.128344363T>CCA127018136FBN2c.3343+22A>G (n.3343+22A>G)
c.3244+22A>G (n.3244+22A>G)
c.3340+22A>G (n.3340+22A>G)
c.3190+22A>G (n.3190+22A>G)
 dbSNP
5g.128344363T=CA1581273715FBN2c.3343+22A= (n.3343+22A=)
c.3244+22A= (n.3244+22A=)
c.3340+22A= (n.3340+22A=)
c.3190+22A= (n.3190+22A=)
5g.128344364A>GCA2675118131FBN2c.3343+21T>C (n.3343+21T>C)
c.3244+21T>C (n.3244+21T>C)
c.3340+21T>C (n.3340+21T>C)
c.3190+21T>C (n.3190+21T>C)
 gnomAD v4
5g.128344368C=CA1581273716FBN2c.3343+17G= (n.3343+17G=)
c.3244+17G= (n.3244+17G=)
c.3340+17G= (n.3340+17G=)
c.3190+17G= (n.3190+17G=)
5g.128344368C>TCA1081362736FBN2c.3343+17G>A (n.3343+17G>A)
c.3244+17G>A (n.3244+17G>A)
c.3340+17G>A (n.3340+17G>A)
c.3190+17G>A (n.3190+17G>A)
 dbSNP gnomAD v4
5g.128344369A=CA1581273717FBN2c.3343+16T= (n.3343+16T=)
c.3244+16T= (n.3244+16T=)
c.3340+16T= (n.3340+16T=)
c.3190+16T= (n.3190+16T=)
5g.128344369A>GCA127018140FBN2c.3343+16T>C (n.3343+16T>C)
c.3244+16T>C (n.3244+16T>C)
c.3340+16T>C (n.3340+16T>C)
c.3190+16T>C (n.3190+16T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128344370G=CA1581273718FBN2c.3343+15C= (n.3343+15C=)
c.3244+15C= (n.3244+15C=)
c.3340+15C= (n.3340+15C=)
c.3190+15C= (n.3190+15C=)
5g.128344370G>TCA562717042FBN2c.3343+15C>A (n.3343+15C>A)
c.3244+15C>A (n.3244+15C>A)
c.3340+15C>A (n.3340+15C>A)
c.3190+15C>A (n.3190+15C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128344371C>ACA562717044FBN2c.3343+14G>T (n.3343+14G>T)
c.3244+14G>T (n.3244+14G>T)
c.3340+14G>T (n.3340+14G>T)
c.3190+14G>T (n.3190+14G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128344371C=CA1581273719FBN2c.3343+14G= (n.3343+14G=)
c.3244+14G= (n.3244+14G=)
c.3340+14G= (n.3340+14G=)
c.3190+14G= (n.3190+14G=)
5g.128344372A=CA1581273720FBN2c.3343+13T= (n.3343+13T=)
c.3244+13T= (n.3244+13T=)
c.3340+13T= (n.3340+13T=)
c.3190+13T= (n.3190+13T=)
5g.128344372A>GCA3395267FBN2c.3343+13T>C (n.3343+13T>C)
c.3244+13T>C (n.3244+13T>C)
c.3340+13T>C (n.3340+13T>C)
c.3190+13T>C (n.3190+13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128344373G>ACA2573139021FBN2c.3343+12C>T (n.3343+12C>T)
c.3244+12C>T (n.3244+12C>T)
c.3340+12C>T (n.3340+12C>T)
c.3190+12C>T (n.3190+12C>T)
 ClinVar dbSNP gnomAD v4
5g.128344373G>CCA2697546183FBN2c.3343+12C>G (n.3343+12C>G)
c.3244+12C>G (n.3244+12C>G)
c.3340+12C>G (n.3340+12C>G)
c.3190+12C>G (n.3190+12C>G)
 ClinVar
5g.128344374A=CA1581273721FBN2c.3343+11T= (n.3343+11T=)
c.3244+11T= (n.3244+11T=)
c.3340+11T= (n.3340+11T=)
c.3190+11T= (n.3190+11T=)
5g.128344374A>GCA562717046FBN2c.3343+11T>C (n.3343+11T>C)
c.3244+11T>C (n.3244+11T>C)
c.3340+11T>C (n.3340+11T>C)
c.3190+11T>C (n.3190+11T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344375A>GCA2578444193FBN2c.3343+10T>C (n.3343+10T>C)
c.3244+10T>C (n.3244+10T>C)
c.3340+10T>C (n.3340+10T>C)
c.3190+10T>C (n.3190+10T>C)
5g.128344376C>TCA2675118132FBN2c.3343+9G>A (n.3343+9G>A)
c.3244+9G>A (n.3244+9G>A)
c.3340+9G>A (n.3340+9G>A)
c.3190+9G>A (n.3190+9G>A)
 gnomAD v4
5g.128344378A>CCA2675118133FBN2c.3343+7T>G (n.3343+7T>G)
c.3244+7T>G (n.3244+7T>G)
c.3340+7T>G (n.3340+7T>G)
c.3190+7T>G (n.3190+7T>G)
 gnomAD v4
5g.128344379T>CCA803642670FBN2c.3343+6A>G (n.3343+6A>G)
c.3244+6A>G (n.3244+6A>G)
c.3340+6A>G (n.3340+6A>G)
c.3190+6A>G (n.3190+6A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128344379T=CA1581273722FBN2c.3343+6A= (n.3343+6A=)
c.3244+6A= (n.3244+6A=)
c.3340+6A= (n.3340+6A=)
c.3190+6A= (n.3190+6A=)
5g.128344382T>CCA1581273724FBN2c.3343+3A>G (n.3343+3A>G)
c.3244+3A>G (n.3244+3A>G)
c.3340+3A>G (n.3340+3A>G)
c.3190+3A>G (n.3190+3A>G)
 dbSNP
5g.128344382T=CA1581273723FBN2c.3343+3A= (n.3343+3A=)
c.3244+3A= (n.3244+3A=)
c.3340+3A= (n.3340+3A=)
c.3190+3A= (n.3190+3A=)
5g.128344383A>CCA360761615FBN2c.3343+2T>G (n.3343+2T>G)
c.3244+2T>G (n.3244+2T>G)
c.3340+2T>G (n.3340+2T>G)
c.3190+2T>G (n.3190+2T>G)
5g.128344383A>GCA360761616FBN2c.3343+2T>C (n.3343+2T>C)
c.3244+2T>C (n.3244+2T>C)
c.3340+2T>C (n.3340+2T>C)
c.3190+2T>C (n.3190+2T>C)
5g.128344383A>TCA360761618FBN2c.3343+2T>A (n.3343+2T>A)
c.3244+2T>A (n.3244+2T>A)
c.3340+2T>A (n.3340+2T>A)
c.3190+2T>A (n.3190+2T>A)
5g.128344384C>ACA360761625FBN2c.3343+1G>T (n.3343+1G>T)
c.3244+1G>T (n.3244+1G>T)
c.3340+1G>T (n.3340+1G>T)
c.3190+1G>T (n.3190+1G>T)
5g.128344384C>GCA360761628FBN2c.3343+1G>C (n.3343+1G>C)
c.3244+1G>C (n.3244+1G>C)
c.3340+1G>C (n.3340+1G>C)
c.3190+1G>C (n.3190+1G>C)
5g.128344384C>TCA360761626FBN2c.3343+1G>A (n.3343+1G>A)
c.3244+1G>A (n.3244+1G>A)
c.3340+1G>A (n.3340+1G>A)
c.3190+1G>A (n.3190+1G>A)
5g.128344385C>ACA360761630FBN2c.3343G>T (p.Asp1115Tyr)
c.3244G>T (p.Asp1082Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3190G>T (p.Asp1064Tyr)
5g.128344385C=CA1581273725FBN2c.3343G= (p.Asp1115=)
c.3244G= (p.Asp1082=)
c.3340G= (p.Asp1114=)
c.3190G= (p.Asp1064=)
5g.128344385C>GCA281516FBN2c.3343G>C (p.Asp1115His)
c.3244G>C (p.Asp1082His)
c.3340G>C (p.Asp1114His)
c.3190G>C (p.Asp1064His)
 ClinVar dbSNP
5g.128344385C>TCA360761631FBN2c.3343G>A (p.Asp1115Asn)
c.3244G>A (p.Asp1082Asn)
c.3340G>A (p.Asp1114Asn)
c.3190G>A (p.Asp1064Asn)
5g.128344386C>ACA446311188FBN2c.3342G>T (p.Thr1114=)
c.3243G>T (p.Thr1081=)
c.3339G>T (p.Thr1113=)
c.3189G>T (p.Thr1063=)
5g.128344386C=CA1581273726FBN2c.3342G= (p.Thr1114=)
c.3243G= (p.Thr1081=)
c.3339G= (p.Thr1113=)
c.3189G= (p.Thr1063=)
5g.128344386C>GCA446311187FBN2c.3342G>C (p.Thr1114=)
c.3243G>C (p.Thr1081=)
c.3339G>C (p.Thr1113=)
c.3189G>C (p.Thr1063=)
5g.128344386C>TCA3395268FBN2c.3342G>A (p.Thr1114=)
c.3243G>A (p.Thr1081=)
c.3339G>A (p.Thr1113=)
c.3189G>A (p.Thr1063=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128344387G>ACA325281FBN2c.3341C>T (p.Thr1114Met)
c.3242C>T (p.Thr1081Met)
c.3338C>T (p.Thr1113Met)
c.3188C>T (p.Thr1063Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128344387G>CCA360761635FBN2c.3341C>G (p.Thr1114Arg)
c.3242C>G (p.Thr1081Arg)
c.3338C>G (p.Thr1113Arg)
c.3188C>G (p.Thr1063Arg)
5g.128344387G=CA1581273727FBN2c.3341C= (p.Thr1114=)
c.3242C= (p.Thr1081=)
c.3338C= (p.Thr1113=)
c.3188C= (p.Thr1063=)
5g.128344387G>TCA360761638FBN2c.3341C>A (p.Thr1114Lys)
c.3242C>A (p.Thr1081Lys)
c.3338C>A (p.Thr1113Lys)
c.3188C>A (p.Thr1063Lys)
5g.128344388T>ACA360761639FBN2c.3340A>T (p.Thr1114Ser)
c.3241A>T (p.Thr1081Ser)
c.3337A>T (p.Thr1113Ser)
c.3187A>T (p.Thr1063Ser)
5g.128344388T>CCA360761640FBN2c.3340A>G (p.Thr1114Ala)
c.3241A>G (p.Thr1081Ala)
c.3337A>G (p.Thr1113Ala)
c.3187A>G (p.Thr1063Ala)
5g.128344388T>GCA360761642FBN2c.3340A>C (p.Thr1114Pro)
c.3241A>C (p.Thr1081Pro)
c.3337A>C (p.Thr1113Pro)
c.3187A>C (p.Thr1063Pro)
5g.128344389G>ACA446311189FBN2c.3339C>T (p.Cys1113=)
c.3240C>T (p.Cys1080=)
c.3336C>T (p.Cys1112=)
c.3186C>T (p.Cys1062=)
 dbSNP gnomAD v3 gnomAD v4
5g.128344389G>CCA360761645FBN2c.3339C>G (p.Cys1113Trp)
c.3240C>G (p.Cys1080Trp)
c.3336C>G (p.Cys1112Trp)
c.3186C>G (p.Cys1062Trp)
5g.128344389G=CA1581273728FBN2c.3339C= (p.Cys1113=)
c.3240C= (p.Cys1080=)
c.3336C= (p.Cys1112=)
c.3186C= (p.Cys1062=)
5g.128344389G>TCA360761646FBN2c.3339C>A (p.Cys1113Ter)
c.3240C>A (p.Cys1080Ter)
c.3336C>A (p.Cys1112Ter)
c.3186C>A (p.Cys1062Ter)
5g.128344389dupCA2675118134FBN2c.3339dup (p.Thr1114HisfsTer11)
c.3240dup (p.Thr1081HisfsTer11)
c.3336dup (p.Thr1113HisfsTer11)
c.3186dup (p.Thr1063HisfsTer11)
 gnomAD v4
5g.128344390C>ACA360761648FBN2c.3338G>T (p.Cys1113Phe)
c.3239G>T (p.Cys1080Phe)
c.3335G>T (p.Cys1112Phe)
c.3185G>T (p.Cys1062Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.128344390C=CA1581273729FBN2c.3338G= (p.Cys1113=)
c.3239G= (p.Cys1080=)
c.3335G= (p.Cys1112=)
c.3185G= (p.Cys1062=)
5g.128344390C>GCA360761649FBN2c.3338G>C (p.Cys1113Ser)
c.3239G>C (p.Cys1080Ser)
c.3335G>C (p.Cys1112Ser)
c.3185G>C (p.Cys1062Ser)
5g.128344390C>TCA360761651FBN2c.3338G>A (p.Cys1113Tyr)
c.3239G>A (p.Cys1080Tyr)
c.3335G>A (p.Cys1112Tyr)
c.3185G>A (p.Cys1062Tyr)
5g.128344391A=CA1581273730FBN2c.3337T= (p.Cys1113=)
c.3238T= (p.Cys1080=)
c.3334T= (p.Cys1112=)
c.3184T= (p.Cys1062=)
5g.128344391A>CCA360761653FBN2c.3337T>G (p.Cys1113Gly)
c.3238T>G (p.Cys1080Gly)
c.3334T>G (p.Cys1112Gly)
c.3184T>G (p.Cys1062Gly)
5g.128344391A>GCA360761654FBN2c.3337T>C (p.Cys1113Arg)
c.3238T>C (p.Cys1080Arg)
c.3334T>C (p.Cys1112Arg)
c.3184T>C (p.Cys1062Arg)
 gnomAD v4
5g.128344391A>TCA127018175FBN2c.3337T>A (p.Cys1113Ser)
c.3238T>A (p.Cys1080Ser)
c.3334T>A (p.Cys1112Ser)
c.3184T>A (p.Cys1062Ser)
 dbSNP gnomAD v4
5g.128344392G>ACA446311190FBN2c.3336C>T (p.Asn1112=)
c.3237C>T (p.Asn1079=)
c.3333C>T (p.Asn1111=)
c.3183C>T (p.Asn1061=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344392G>CCA360761659FBN2c.3336C>G (p.Asn1112Lys)
c.3237C>G (p.Asn1079Lys)
c.3333C>G (p.Asn1111Lys)
c.3183C>G (p.Asn1061Lys)
5g.128344392G=CA1581273731FBN2c.3336C= (p.Asn1112=)
c.3237C= (p.Asn1079=)
c.3333C= (p.Asn1111=)
c.3183C= (p.Asn1061=)
5g.128344392G>TCA360761658FBN2c.3336C>A (p.Asn1112Lys)
c.3237C>A (p.Asn1079Lys)
c.3333C>A (p.Asn1111Lys)
c.3183C>A (p.Asn1061Lys)
5g.128344393T>ACA360761661FBN2c.3335A>T (p.Asn1112Ile)
c.3236A>T (p.Asn1079Ile)
c.3332A>T (p.Asn1111Ile)
c.3182A>T (p.Asn1061Ile)
5g.128344393T>CCA360761663FBN2c.3335A>G (p.Asn1112Ser)
c.3236A>G (p.Asn1079Ser)
c.3332A>G (p.Asn1111Ser)
c.3182A>G (p.Asn1061Ser)
 ClinVar
5g.128344393T>GCA360761664FBN2c.3335A>C (p.Asn1112Thr)
c.3236A>C (p.Asn1079Thr)
c.3332A>C (p.Asn1111Thr)
c.3182A>C (p.Asn1061Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.128344393T=CA1581273732FBN2c.3335A= (p.Asn1112=)
c.3236A= (p.Asn1079=)
c.3332A= (p.Asn1111=)
c.3182A= (p.Asn1061=)
5g.128344394T>ACA360761666FBN2c.3334A>T (p.Asn1112Tyr)
c.3235A>T (p.Asn1079Tyr)
c.3331A>T (p.Asn1111Tyr)
c.3181A>T (p.Asn1061Tyr)
5g.128344394T>CCA360761667FBN2c.3334A>G (p.Asn1112Asp)
c.3235A>G (p.Asn1079Asp)
c.3331A>G (p.Asn1111Asp)
c.3181A>G (p.Asn1061Asp)
5g.128344394T>GCA360761668FBN2c.3334A>C (p.Asn1112His)
c.3235A>C (p.Asn1079His)
c.3331A>C (p.Asn1111His)
c.3181A>C (p.Asn1061His)
5g.128344395T>ACA360761669FBN2c.3333A>T (p.Arg1111Ser)
c.3234A>T (p.Arg1078Ser)
c.3330A>T (p.Arg1110Ser)
c.3180A>T (p.Arg1060Ser)
5g.128344395T>CCA446311191FBN2c.3333A>G (p.Arg1111=)
c.3234A>G (p.Arg1078=)
c.3330A>G (p.Arg1110=)
c.3180A>G (p.Arg1060=)
5g.128344395T>GCA360761670FBN2c.3333A>C (p.Arg1111Ser)
c.3234A>C (p.Arg1078Ser)
c.3330A>C (p.Arg1110Ser)
c.3180A>C (p.Arg1060Ser)
5g.128344396C>ACA360761673FBN2c.3332G>T (p.Arg1111Ile)
c.3233G>T (p.Arg1078Ile)
c.3329G>T (p.Arg1110Ile)
c.3179G>T (p.Arg1060Ile)
 gnomAD v4
5g.128344396C>GCA360761675FBN2c.3332G>C (p.Arg1111Thr)
c.3233G>C (p.Arg1078Thr)
c.3329G>C (p.Arg1110Thr)
c.3179G>C (p.Arg1060Thr)
5g.128344396C>TCA360761677FBN2c.3332G>A (p.Arg1111Lys)
c.3233G>A (p.Arg1078Lys)
c.3329G>A (p.Arg1110Lys)
c.3179G>A (p.Arg1060Lys)
5g.128344397T>ACA360761681FBN2c.3331A>T (p.Arg1111Ter)
c.3232A>T (p.Arg1078Ter)
c.3328A>T (p.Arg1110Ter)
c.3178A>T (p.Arg1060Ter)
5g.128344397T>CCA360761683FBN2c.3331A>G (p.Arg1111Gly)
c.3232A>G (p.Arg1078Gly)
c.3328A>G (p.Arg1110Gly)
c.3178A>G (p.Arg1060Gly)
 ClinVar dbSNP
5g.128344397T>GCA446311192FBN2c.3331A>C (p.Arg1111=)
c.3232A>C (p.Arg1078=)
c.3328A>C (p.Arg1110=)
c.3178A>C (p.Arg1060=)
5g.128344397T=CA1581273733FBN2c.3331A= (p.Arg1111=)
c.3232A= (p.Arg1078=)
c.3328A= (p.Arg1110=)
c.3178A= (p.Arg1060=)
5g.128344398T>ACA360761686FBN2c.3330A>T (p.Glu1110Asp)
c.3231A>T (p.Glu1077Asp)
c.3327A>T (p.Glu1109Asp)
c.3177A>T (p.Glu1059Asp)
 COSMIC COSMIC
5g.128344398T>CCA446311193FBN2c.3330A>G (p.Glu1110=)
c.3231A>G (p.Glu1077=)
c.3327A>G (p.Glu1109=)
c.3177A>G (p.Glu1059=)
 dbSNP
5g.128344398T>GCA360761685FBN2c.3330A>C (p.Glu1110Asp)
c.3231A>C (p.Glu1077Asp)
c.3327A>C (p.Glu1109Asp)
c.3177A>C (p.Glu1059Asp)
5g.128344398T=CA1581273734FBN2c.3330A= (p.Glu1110=)
c.3231A= (p.Glu1077=)
c.3327A= (p.Glu1109=)
c.3177A= (p.Glu1059=)
5g.128344399T>ACA360761689FBN2c.3329A>T (p.Glu1110Val)
c.3230A>T (p.Glu1077Val)
c.3326A>T (p.Glu1109Val)
c.3176A>T (p.Glu1059Val)
5g.128344399T>CCA360761690FBN2c.3329A>G (p.Glu1110Gly)
c.3230A>G (p.Glu1077Gly)
c.3326A>G (p.Glu1109Gly)
c.3176A>G (p.Glu1059Gly)
5g.128344399T>GCA360761692FBN2c.3329A>C (p.Glu1110Ala)
c.3230A>C (p.Glu1077Ala)
c.3326A>C (p.Glu1109Ala)
c.3176A>C (p.Glu1059Ala)
5g.128344400C>ACA360761695FBN2c.3328G>T (p.Glu1110Ter)
c.3229G>T (p.Glu1077Ter)
c.3325G>T (p.Glu1109Ter)
c.3175G>T (p.Glu1059Ter)
5g.128344400C>GCA360761697FBN2c.3328G>C (p.Glu1110Gln)
c.3229G>C (p.Glu1077Gln)
c.3325G>C (p.Glu1109Gln)
c.3175G>C (p.Glu1059Gln)
5g.128344400C>TCA360761699FBN2c.3328G>A (p.Glu1110Lys)
c.3229G>A (p.Glu1077Lys)
c.3325G>A (p.Glu1109Lys)
c.3175G>A (p.Glu1059Lys)
5g.128344401C>ACA360761702FBN2c.3327G>T (p.Glu1109Asp)
c.3228G>T (p.Glu1076Asp)
c.3324G>T (p.Glu1108Asp)
c.3174G>T (p.Glu1058Asp)
5g.128344401C>GCA360761701FBN2c.3327G>C (p.Glu1109Asp)
c.3228G>C (p.Glu1076Asp)
c.3324G>C (p.Glu1108Asp)
c.3174G>C (p.Glu1058Asp)
5g.128344401C>TCA446311194FBN2c.3327G>A (p.Glu1109=)
c.3228G>A (p.Glu1076=)
c.3324G>A (p.Glu1108=)
c.3174G>A (p.Glu1058=)
 gnomAD v4
5g.128344402T>ACA360761706FBN2c.3326A>T (p.Glu1109Val)
c.3227A>T (p.Glu1076Val)
c.3323A>T (p.Glu1108Val)
c.3173A>T (p.Glu1058Val)
5g.128344402T>CCA360761708FBN2c.3326A>G (p.Glu1109Gly)
c.3227A>G (p.Glu1076Gly)
c.3323A>G (p.Glu1108Gly)
c.3173A>G (p.Glu1058Gly)
 gnomAD v4
5g.128344402T>GCA360761709FBN2c.3326A>C (p.Glu1109Ala)
c.3227A>C (p.Glu1076Ala)
c.3323A>C (p.Glu1108Ala)
c.3173A>C (p.Glu1058Ala)
5g.128344403C>ACA360761712FBN2c.3325G>T (p.Glu1109Ter)
c.3226G>T (p.Glu1076Ter)
c.3322G>T (p.Glu1108Ter)
c.3172G>T (p.Glu1058Ter)
5g.128344403C>GCA360761714FBN2c.3325G>C (p.Glu1109Gln)
c.3226G>C (p.Glu1076Gln)
c.3322G>C (p.Glu1108Gln)
c.3172G>C (p.Glu1058Gln)
5g.128344403C>TCA360761724FBN2c.3325G>A (p.Glu1109Lys)
c.3226G>A (p.Glu1076Lys)
c.3322G>A (p.Glu1108Lys)
c.3172G>A (p.Glu1058Lys)
5g.128344404C>ACA360761731FBN2c.3324G>T (p.Met1108Ile)
c.3225G>T (p.Met1075Ile)
c.3321G>T (p.Met1107Ile)
c.3171G>T (p.Met1057Ile)
 COSMIC COSMIC
5g.128344404C>GCA360761726FBN2c.3324G>C (p.Met1108Ile)
c.3225G>C (p.Met1075Ile)
c.3321G>C (p.Met1107Ile)
c.3171G>C (p.Met1057Ile)
5g.128344404C>TCA360761728FBN2c.3324G>A (p.Met1108Ile)
c.3225G>A (p.Met1075Ile)
c.3321G>A (p.Met1107Ile)
c.3171G>A (p.Met1057Ile)
 gnomAD v4
5g.128344405A=CA1581273735FBN2c.3323T= (p.Met1108=)
c.3224T= (p.Met1075=)
c.3320T= (p.Met1107=)
c.3170T= (p.Met1057=)
5g.128344405A>CCA360761733FBN2c.3323T>G (p.Met1108Arg)
c.3224T>G (p.Met1075Arg)
c.3320T>G (p.Met1107Arg)
c.3170T>G (p.Met1057Arg)
5g.128344405A>GCA360761736FBN2c.3323T>C (p.Met1108Thr)
c.3224T>C (p.Met1075Thr)
c.3320T>C (p.Met1107Thr)
c.3170T>C (p.Met1057Thr)
 dbSNP gnomAD v4
5g.128344405A>TCA360761741FBN2c.3323T>A (p.Met1108Lys)
c.3224T>A (p.Met1075Lys)
c.3320T>A (p.Met1107Lys)
c.3170T>A (p.Met1057Lys)
5g.128344406T>ACA360761743FBN2c.3322A>T (p.Met1108Leu)
c.3223A>T (p.Met1075Leu)
c.3319A>T (p.Met1107Leu)
c.3169A>T (p.Met1057Leu)
5g.128344406T>CCA3395270FBN2c.3322A>G (p.Met1108Val)
c.3223A>G (p.Met1075Val)
c.3319A>G (p.Met1107Val)
c.3169A>G (p.Met1057Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344406T>GCA3395269FBN2c.3322A>C (p.Met1108Leu)
c.3223A>C (p.Met1075Leu)
c.3319A>C (p.Met1107Leu)
c.3169A>C (p.Met1057Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344406T=CA1581273736FBN2c.3322A= (p.Met1108=)
c.3223A= (p.Met1075=)
c.3319A= (p.Met1107=)
c.3169A= (p.Met1057=)
5g.128344407G>ACA3395271FBN2c.3321C>T (p.Asp1107=)
c.3222C>T (p.Asp1074=)
c.3318C>T (p.Asp1106=)
c.3168C>T (p.Asp1056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344407G>CCA360761755FBN2c.3321C>G (p.Asp1107Glu)
c.3222C>G (p.Asp1074Glu)
c.3318C>G (p.Asp1106Glu)
c.3168C>G (p.Asp1056Glu)
5g.128344407G=CA1581273737FBN2c.3321C= (p.Asp1107=)
c.3222C= (p.Asp1074=)
c.3318C= (p.Asp1106=)
c.3168C= (p.Asp1056=)
5g.128344407G>TCA360761759FBN2c.3321C>A (p.Asp1107Glu)
c.3222C>A (p.Asp1074Glu)
c.3318C>A (p.Asp1106Glu)
c.3168C>A (p.Asp1056Glu)
5g.128344408T>ACA360761761FBN2c.3320A>T (p.Asp1107Val)
c.3221A>T (p.Asp1074Val)
c.3317A>T (p.Asp1106Val)
c.3167A>T (p.Asp1056Val)
5g.128344408T>CCA360761764FBN2c.3320A>G (p.Asp1107Gly)
c.3221A>G (p.Asp1074Gly)
c.3317A>G (p.Asp1106Gly)
c.3167A>G (p.Asp1056Gly)
5g.128344408T>GCA360761766FBN2c.3320A>C (p.Asp1107Ala)
c.3221A>C (p.Asp1074Ala)
c.3317A>C (p.Asp1106Ala)
c.3167A>C (p.Asp1056Ala)
5g.128344409C>ACA360761770FBN2c.3319G>T (p.Asp1107Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3166G>T (p.Asp1056Tyr)
5g.128344409C>GCA360761774FBN2c.3319G>C (p.Asp1107His)
c.3220G>C (p.Asp1074His)
c.3316G>C (p.Asp1106His)
c.3166G>C (p.Asp1056His)
5g.128344409C>TCA360761772FBN2c.3319G>A (p.Asp1107Asn)
c.3220G>A (p.Asp1074Asn)
c.3316G>A (p.Asp1106Asn)
c.3166G>A (p.Asp1056Asn)
5g.128344410T>ACA446311195FBN2c.3318A>T (p.Leu1106=)
c.3219A>T (p.Leu1073=)
c.3315A>T (p.Leu1105=)
c.3165A>T (p.Leu1055=)
5g.128344410T>CCA446311197FBN2c.3318A>G (p.Leu1106=)
c.3219A>G (p.Leu1073=)
c.3315A>G (p.Leu1105=)
c.3165A>G (p.Leu1055=)
5g.128344410T>GCA446311199FBN2c.3318A>C (p.Leu1106=)
c.3219A>C (p.Leu1073=)
c.3315A>C (p.Leu1105=)
c.3165A>C (p.Leu1055=)
5g.128344411A=CA1581273738FBN2c.3317T= (p.Leu1106=)
c.3218T= (p.Leu1073=)
c.3314T= (p.Leu1105=)
c.3164T= (p.Leu1055=)
5g.128344411A>CCA360761777FBN2c.3317T>G (p.Leu1106Arg)
c.3218T>G (p.Leu1073Arg)
c.3314T>G (p.Leu1105Arg)
c.3164T>G (p.Leu1055Arg)
5g.128344411A>GCA360761783FBN2c.3317T>C (p.Leu1106Pro)
c.3218T>C (p.Leu1073Pro)
c.3314T>C (p.Leu1105Pro)
c.3164T>C (p.Leu1055Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.128344411A>TCA360761780FBN2c.3317T>A (p.Leu1106Gln)
c.3218T>A (p.Leu1073Gln)
c.3314T>A (p.Leu1105Gln)
c.3164T>A (p.Leu1055Gln)
5g.128344412G>ACA446311201FBN2c.3316C>T (p.Leu1106=)
c.3217C>T (p.Leu1073=)
c.3313C>T (p.Leu1105=)
c.3163C>T (p.Leu1055=)
5g.128344412G>CCA3395272FBN2c.3316C>G (p.Leu1106Val)
c.3217C>G (p.Leu1073Val)
c.3313C>G (p.Leu1105Val)
c.3163C>G (p.Leu1055Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128344412G=CA1581273739FBN2c.3316C= (p.Leu1106=)
c.3217C= (p.Leu1073=)
c.3313C= (p.Leu1105=)
c.3163C= (p.Leu1055=)
5g.128344412G>TCA360761786FBN2c.3316C>A (p.Leu1106Ile)
c.3217C>A (p.Leu1073Ile)
c.3313C>A (p.Leu1105Ile)
c.3163C>A (p.Leu1055Ile)
5g.128344413A=CA1581273740FBN2c.3315T= (p.Ala1105=)
c.3216T= (p.Ala1072=)
c.3312T= (p.Ala1104=)
c.3162T= (p.Ala1054=)
5g.128344413A>CCA446311202FBN2c.3315T>G (p.Ala1105=)
c.3216T>G (p.Ala1072=)
c.3312T>G (p.Ala1104=)
c.3162T>G (p.Ala1054=)
5g.128344413A>GCA446311203FBN2c.3315T>C (p.Ala1105=)
c.3216T>C (p.Ala1072=)
c.3312T>C (p.Ala1104=)
c.3162T>C (p.Ala1054=)
 dbSNP gnomAD v4
5g.128344413A>TCA446311204FBN2c.3315T>A (p.Ala1105=)
c.3216T>A (p.Ala1072=)
c.3312T>A (p.Ala1104=)
c.3162T>A (p.Ala1054=)
5g.128344414G>ACA360761790FBN2c.3314C>T (p.Ala1105Val)
c.3215C>T (p.Ala1072Val)
c.3311C>T (p.Ala1104Val)
c.3161C>T (p.Ala1054Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344414G>CCA360761793FBN2c.3314C>G (p.Ala1105Gly)
c.3215C>G (p.Ala1072Gly)
c.3311C>G (p.Ala1104Gly)
c.3161C>G (p.Ala1054Gly)
5g.128344414G=CA1581273741FBN2c.3314C= (p.Ala1105=)
c.3215C= (p.Ala1072=)
c.3311C= (p.Ala1104=)
c.3161C= (p.Ala1054=)
5g.128344414G>TCA360761805FBN2c.3314C>A (p.Ala1105Asp)
c.3215C>A (p.Ala1072Asp)
c.3311C>A (p.Ala1104Asp)
c.3161C>A (p.Ala1054Asp)
5g.128344415C>ACA360761809FBN2c.3313G>T (p.Ala1105Ser)
c.3214G>T (p.Ala1072Ser)
c.3310G>T (p.Ala1104Ser)
c.3160G>T (p.Ala1054Ser)
5g.128344415C>GCA360761812FBN2c.3313G>C (p.Ala1105Pro)
c.3214G>C (p.Ala1072Pro)
c.3310G>C (p.Ala1104Pro)
c.3160G>C (p.Ala1054Pro)
5g.128344415C>TCA360761814FBN2c.3313G>A (p.Ala1105Thr)
c.3214G>A (p.Ala1072Thr)
c.3310G>A (p.Ala1104Thr)
c.3160G>A (p.Ala1054Thr)
5g.128344416A>CCA360761817FBN2c.3312T>G (p.Phe1104Leu)
c.3213T>G (p.Phe1071Leu)
c.3309T>G (p.Phe1103Leu)
c.3159T>G (p.Phe1053Leu)
5g.128344416A>GCA446311205FBN2c.3312T>C (p.Phe1104=)
c.3213T>C (p.Phe1071=)
c.3309T>C (p.Phe1103=)
c.3159T>C (p.Phe1053=)
 gnomAD v4
5g.128344416A>TCA360761821FBN2c.3312T>A (p.Phe1104Leu)
c.3213T>A (p.Phe1071Leu)
c.3309T>A (p.Phe1103Leu)
c.3159T>A (p.Phe1053Leu)
 COSMIC COSMIC
5g.128344417A>CCA360761829FBN2c.3311T>G (p.Phe1104Cys)
c.3212T>G (p.Phe1071Cys)
c.3308T>G (p.Phe1103Cys)
c.3158T>G (p.Phe1053Cys)
5g.128344417A>GCA360761825FBN2c.3311T>C (p.Phe1104Ser)
c.3212T>C (p.Phe1071Ser)
c.3308T>C (p.Phe1103Ser)
c.3158T>C (p.Phe1053Ser)
5g.128344417A>TCA360761823FBN2c.3311T>A (p.Phe1104Tyr)
c.3212T>A (p.Phe1071Tyr)
c.3308T>A (p.Phe1103Tyr)
c.3158T>A (p.Phe1053Tyr)
5g.128344418A>CCA360761835FBN2c.3310T>G (p.Phe1104Val)
c.3211T>G (p.Phe1071Val)
c.3307T>G (p.Phe1103Val)
c.3157T>G (p.Phe1053Val)
5g.128344418A>GCA360761837FBN2c.3310T>C (p.Phe1104Leu)
c.3211T>C (p.Phe1071Leu)
c.3307T>C (p.Phe1103Leu)
c.3157T>C (p.Phe1053Leu)
5g.128344418A>TCA360761839FBN2c.3310T>A (p.Phe1104Ile)
c.3211T>A (p.Phe1071Ile)
c.3307T>A (p.Phe1103Ile)
c.3157T>A (p.Phe1053Ile)
5g.128344419G>ACA446311206FBN2c.3309C>T (p.Gly1103=)
c.3210C>T (p.Gly1070=)
c.3306C>T (p.Gly1102=)
c.3156C>T (p.Gly1052=)
5g.128344419G>CCA446311207FBN2c.3309C>G (p.Gly1103=)
c.3210C>G (p.Gly1070=)
c.3306C>G (p.Gly1102=)
c.3156C>G (p.Gly1052=)
 dbSNP
5g.128344419G>TCA446311208FBN2c.3309C>A (p.Gly1103=)
c.3210C>A (p.Gly1070=)
c.3306C>A (p.Gly1102=)
c.3156C>A (p.Gly1052=)
 COSMIC COSMIC
5g.128344420C>ACA360761842FBN2c.3308G>T (p.Gly1103Val)
c.3209G>T (p.Gly1070Val)
c.3305G>T (p.Gly1102Val)
c.3155G>T (p.Gly1052Val)
5g.128344420C>GCA360761843FBN2c.3308G>C (p.Gly1103Ala)
c.3209G>C (p.Gly1070Ala)
c.3305G>C (p.Gly1102Ala)
c.3155G>C (p.Gly1052Ala)
5g.128344420C>TCA360761847FBN2c.3308G>A (p.Gly1103Asp)
c.3209G>A (p.Gly1070Asp)
c.3305G>A (p.Gly1102Asp)
c.3155G>A (p.Gly1052Asp)
5g.128344421C>ACA360761859FBN2c.3307G>T (p.Gly1103Cys)
c.3208G>T (p.Gly1070Cys)
c.3304G>T (p.Gly1102Cys)
c.3154G>T (p.Gly1052Cys)
5g.128344421C>GCA360761872FBN2c.3307G>C (p.Gly1103Arg)
c.3208G>C (p.Gly1070Arg)
c.3304G>C (p.Gly1102Arg)
c.3154G>C (p.Gly1052Arg)
5g.128344421C>TCA360761876FBN2c.3307G>A (p.Gly1103Ser)
c.3208G>A (p.Gly1070Ser)
c.3304G>A (p.Gly1102Ser)
c.3154G>A (p.Gly1052Ser)
5g.128344422A>CCA360761881FBN2c.3306T>G (p.Ser1102Arg)
c.3207T>G (p.Ser1069Arg)
c.3303T>G (p.Ser1101Arg)
c.3153T>G (p.Ser1051Arg)
5g.128344422A>GCA446311210FBN2c.3306T>C (p.Ser1102=)
c.3207T>C (p.Ser1069=)
c.3303T>C (p.Ser1101=)
c.3153T>C (p.Ser1051=)
5g.128344422A>TCA360761883FBN2c.3306T>A (p.Ser1102Arg)
c.3207T>A (p.Ser1069Arg)
c.3303T>A (p.Ser1101Arg)
c.3153T>A (p.Ser1051Arg)
5g.128344423C>ACA360761889FBN2c.3305G>T (p.Ser1102Ile)
c.3206G>T (p.Ser1069Ile)
c.3302G>T (p.Ser1101Ile)
c.3152G>T (p.Ser1051Ile)
5g.128344423C=CA1581273742FBN2c.3305G= (p.Ser1102=)
c.3206G= (p.Ser1069=)
c.3302G= (p.Ser1101=)
c.3152G= (p.Ser1051=)
5g.128344423C>GCA360761893FBN2c.3305G>C (p.Ser1102Thr)
c.3206G>C (p.Ser1069Thr)
c.3302G>C (p.Ser1101Thr)
c.3152G>C (p.Ser1051Thr)
5g.128344423C>TCA360761888FBN2c.3305G>A (p.Ser1102Asn)
c.3206G>A (p.Ser1069Asn)
c.3302G>A (p.Ser1101Asn)
c.3152G>A (p.Ser1051Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344424T>ACA360761896FBN2c.3304A>T (p.Ser1102Cys)
c.3205A>T (p.Ser1069Cys)
c.3301A>T (p.Ser1101Cys)
c.3151A>T (p.Ser1051Cys)
5g.128344424T>CCA3395273FBN2c.3304A>G (p.Ser1102Gly)
c.3205A>G (p.Ser1069Gly)
c.3301A>G (p.Ser1101Gly)
c.3151A>G (p.Ser1051Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344424T>GCA360761902FBN2c.3304A>C (p.Ser1102Arg)
c.3205A>C (p.Ser1069Arg)
c.3301A>C (p.Ser1101Arg)
c.3151A>C (p.Ser1051Arg)
5g.128344424T=CA1581273743FBN2c.3304A= (p.Ser1102=)
c.3205A= (p.Ser1069=)
c.3301A= (p.Ser1101=)
c.3151A= (p.Ser1051=)
5g.128344425A=CA1581273744FBN2c.3303T= (p.Asn1101=)
c.3204T= (p.Asn1068=)
c.3300T= (p.Asn1100=)
c.3150T= (p.Asn1050=)
5g.128344425A>CCA360761905FBN2c.3303T>G (p.Asn1101Lys)
c.3204T>G (p.Asn1068Lys)
c.3300T>G (p.Asn1100Lys)
c.3150T>G (p.Asn1050Lys)
5g.128344425A>GCA446311211FBN2c.3303T>C (p.Asn1101=)
c.3204T>C (p.Asn1068=)
c.3300T>C (p.Asn1100=)
c.3150T>C (p.Asn1050=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128344425A>TCA360761908FBN2c.3303T>A (p.Asn1101Lys)
c.3204T>A (p.Asn1068Lys)
c.3300T>A (p.Asn1100Lys)
c.3150T>A (p.Asn1050Lys)
5g.128344426T>ACA360761912FBN2c.3302A>T (p.Asn1101Ile)
c.3203A>T (p.Asn1068Ile)
c.3299A>T (p.Asn1100Ile)
c.3149A>T (p.Asn1050Ile)
5g.128344426T>CCA3395274FBN2c.3302A>G (p.Asn1101Ser)
c.3203A>G (p.Asn1068Ser)
c.3299A>G (p.Asn1100Ser)
c.3149A>G (p.Asn1050Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128344426T>GCA360761910FBN2c.3302A>C (p.Asn1101Thr)
c.3203A>C (p.Asn1068Thr)
c.3299A>C (p.Asn1100Thr)
c.3149A>C (p.Asn1050Thr)
5g.128344426T=CA1581273745FBN2c.3302A= (p.Asn1101=)
c.3203A= (p.Asn1068=)
c.3299A= (p.Asn1100=)
c.3149A= (p.Asn1050=)
5g.128344427T>ACA360761914FBN2c.3301A>T (p.Asn1101Tyr)
c.3202A>T (p.Asn1068Tyr)
c.3298A>T (p.Asn1100Tyr)
c.3148A>T (p.Asn1050Tyr)
5g.128344427T>CCA360761916FBN2c.3301A>G (p.Asn1101Asp)
c.3202A>G (p.Asn1068Asp)
c.3298A>G (p.Asn1100Asp)
c.3148A>G (p.Asn1050Asp)
5g.128344427T>GCA360761920FBN2c.3301A>C (p.Asn1101His)
c.3202A>C (p.Asn1068His)
c.3298A>C (p.Asn1100His)
c.3148A>C (p.Asn1050His)
5g.128344428G>ACA446311215FBN2c.3300C>T (p.Cys1100=)
c.3201C>T (p.Cys1067=)
c.3297C>T (p.Cys1099=)
c.3147C>T (p.Cys1049=)
5g.128344428G>CCA360761922FBN2c.3300C>G (p.Cys1100Trp)
c.3201C>G (p.Cys1067Trp)
c.3297C>G (p.Cys1099Trp)
c.3147C>G (p.Cys1049Trp)
5g.128344428G>TCA360761925FBN2c.3300C>A (p.Cys1100Ter)
c.3201C>A (p.Cys1067Ter)
c.3297C>A (p.Cys1099Ter)
c.3147C>A (p.Cys1049Ter)
5g.128344429C>ACA360761929FBN2c.3299G>T (p.Cys1100Phe)
c.3200G>T (p.Cys1067Phe)
c.3296G>T (p.Cys1099Phe)
c.3146G>T (p.Cys1049Phe)
5g.128344429C>GCA360761936FBN2c.3299G>C (p.Cys1100Ser)
c.3200G>C (p.Cys1067Ser)
c.3296G>C (p.Cys1099Ser)
c.3146G>C (p.Cys1049Ser)
5g.128344429C>TCA360761933FBN2c.3299G>A (p.Cys1100Tyr)
c.3200G>A (p.Cys1067Tyr)
c.3296G>A (p.Cys1099Tyr)
c.3146G>A (p.Cys1049Tyr)
5g.128344430A>CCA360761941FBN2c.3298T>G (p.Cys1100Gly)
c.3199T>G (p.Cys1067Gly)
c.3295T>G (p.Cys1099Gly)
c.3145T>G (p.Cys1049Gly)
 ClinVar
5g.128344430A>GCA360761945FBN2c.3298T>C (p.Cys1100Arg)
c.3199T>C (p.Cys1067Arg)
c.3295T>C (p.Cys1099Arg)
c.3145T>C (p.Cys1049Arg)
5g.128344430A>TCA360761946FBN2c.3298T>A (p.Cys1100Ser)
c.3199T>A (p.Cys1067Ser)
c.3295T>A (p.Cys1099Ser)
c.3145T>A (p.Cys1049Ser)
 ClinVar dbSNP
5g.128344431A>CCA446311216FBN2c.3297T>G (p.Arg1099=)
c.3198T>G (p.Arg1066=)
c.3294T>G (p.Arg1098=)
c.3144T>G (p.Arg1048=)
5g.128344431A>GCA446311218FBN2c.3297T>C (p.Arg1099=)
c.3198T>C (p.Arg1066=)
c.3294T>C (p.Arg1098=)
c.3144T>C (p.Arg1048=)
5g.128344431A>TCA446311217FBN2c.3297T>A (p.Arg1099=)
c.3198T>A (p.Arg1066=)
c.3294T>A (p.Arg1098=)
c.3144T>A (p.Arg1048=)
5g.128344432C>ACA360761949FBN2c.3296G>T (p.Arg1099Leu)
c.3197G>T (p.Arg1066Leu)
c.3293G>T (p.Arg1098Leu)
c.3143G>T (p.Arg1048Leu)
5g.128344432C=CA1581273746FBN2c.3296G= (p.Arg1099=)
c.3197G= (p.Arg1066=)
c.3293G= (p.Arg1098=)
c.3143G= (p.Arg1048=)
5g.128344432C>GCA360761952FBN2c.3296G>C (p.Arg1099Pro)
c.3197G>C (p.Arg1066Pro)
c.3293G>C (p.Arg1098Pro)
c.3143G>C (p.Arg1048Pro)
 gnomAD v4
5g.128344432C>TCA323174FBN2c.3296G>A (p.Arg1099His)
c.3197G>A (p.Arg1066His)
c.3293G>A (p.Arg1098His)
c.3143G>A (p.Arg1048His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344433G>ACA067709FBN2c.3295C>T (p.Arg1099Cys)
c.3196C>T (p.Arg1066Cys)
c.3292C>T (p.Arg1098Cys)
c.3142C>T (p.Arg1048Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344433G>CCA360761956FBN2c.3295C>G (p.Arg1099Gly)
c.3196C>G (p.Arg1066Gly)
c.3292C>G (p.Arg1098Gly)
c.3142C>G (p.Arg1048Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.128344433G=CA1581273747FBN2c.3295C= (p.Arg1099=)
c.3196C= (p.Arg1066=)
c.3292C= (p.Arg1098=)
c.3142C= (p.Arg1048=)
5g.128344433G>TCA360761958FBN2c.3295C>A (p.Arg1099Ser)
c.3196C>A (p.Arg1066Ser)
c.3292C>A (p.Arg1098Ser)
c.3142C>A (p.Arg1048Ser)
5g.128344434G>ACA446311219FBN2c.3294C>T (p.Cys1098=)
c.3195C>T (p.Cys1065=)
c.3291C>T (p.Cys1097=)
c.3141C>T (p.Cys1047=)
 gnomAD v4
5g.128344434G>CCA360761960FBN2c.3294C>G (p.Cys1098Trp)
c.3195C>G (p.Cys1065Trp)
c.3291C>G (p.Cys1097Trp)
c.3141C>G (p.Cys1047Trp)
 COSMIC COSMIC
5g.128344434G>TCA360761962FBN2c.3294C>A (p.Cys1098Ter)
c.3195C>A (p.Cys1065Ter)
c.3291C>A (p.Cys1097Ter)
c.3141C>A (p.Cys1047Ter)
5g.128344435C>ACA360761969FBN2c.3293G>T (p.Cys1098Phe)
c.3194G>T (p.Cys1065Phe)
c.3290G>T (p.Cys1097Phe)
c.3140G>T (p.Cys1047Phe)
5g.128344435C>GCA360761968FBN2c.3293G>C (p.Cys1098Ser)
c.3194G>C (p.Cys1065Ser)
c.3290G>C (p.Cys1097Ser)
c.3140G>C (p.Cys1047Ser)
5g.128344435C>TCA360761965FBN2c.3293G>A (p.Cys1098Tyr)
c.3194G>A (p.Cys1065Tyr)
c.3290G>A (p.Cys1097Tyr)
c.3140G>A (p.Cys1047Tyr)
 ClinVar
5g.128344436A>CCA360761971FBN2c.3292T>G (p.Cys1098Gly)
c.3193T>G (p.Cys1065Gly)
c.3289T>G (p.Cys1097Gly)
c.3139T>G (p.Cys1047Gly)
5g.128344436A>GCA360761974FBN2c.3292T>C (p.Cys1098Arg)
c.3193T>C (p.Cys1065Arg)
c.3289T>C (p.Cys1097Arg)
c.3139T>C (p.Cys1047Arg)
5g.128344436A>TCA360761972FBN2c.3292T>A (p.Cys1098Ser)
c.3193T>A (p.Cys1065Ser)
c.3289T>A (p.Cys1097Ser)
c.3139T>A (p.Cys1047Ser)
5g.128344437T>ACA360761979FBN2c.3291A>T (p.Lys1097Asn)
c.3192A>T (p.Lys1064Asn)
c.3288A>T (p.Lys1096Asn)
c.3138A>T (p.Lys1046Asn)
5g.128344437T>CCA446311220FBN2c.3291A>G (p.Lys1097=)
c.3192A>G (p.Lys1064=)
c.3288A>G (p.Lys1096=)
c.3138A>G (p.Lys1046=)
5g.128344437T>GCA360761980FBN2c.3291A>C (p.Lys1097Asn)
c.3192A>C (p.Lys1064Asn)
c.3288A>C (p.Lys1096Asn)
c.3138A>C (p.Lys1046Asn)
5g.128344438T>ACA360761982FBN2c.3290A>T (p.Lys1097Ile)
c.3191A>T (p.Lys1064Ile)
c.3287A>T (p.Lys1096Ile)
c.3137A>T (p.Lys1046Ile)
5g.128344438T>CCA360761983FBN2c.3290A>G (p.Lys1097Arg)
c.3191A>G (p.Lys1064Arg)
c.3287A>G (p.Lys1096Arg)
c.3137A>G (p.Lys1046Arg)
 ClinVar gnomAD v4
5g.128344438T>GCA3395275FBN2c.3290A>C (p.Lys1097Thr)
c.3191A>C (p.Lys1064Thr)
c.3287A>C (p.Lys1096Thr)
c.3137A>C (p.Lys1046Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344438T=CA1581273748FBN2c.3290A= (p.Lys1097=)
c.3191A= (p.Lys1064=)
c.3287A= (p.Lys1096=)
c.3137A= (p.Lys1046=)
5g.128344439T>ACA360761988FBN2c.3289A>T (p.Lys1097Ter)
c.3190A>T (p.Lys1064Ter)
c.3286A>T (p.Lys1096Ter)
c.3136A>T (p.Lys1046Ter)
5g.128344439T>CCA360761990FBN2c.3289A>G (p.Lys1097Glu)
c.3190A>G (p.Lys1064Glu)
c.3286A>G (p.Lys1096Glu)
c.3136A>G (p.Lys1046Glu)
5g.128344439T>GCA360761991FBN2c.3289A>C (p.Lys1097Gln)
c.3190A>C (p.Lys1064Gln)
c.3286A>C (p.Lys1096Gln)
c.3136A>C (p.Lys1046Gln)
5g.128344440G>ACA446311221FBN2c.3288C>T (p.Phe1096=)
c.3189C>T (p.Phe1063=)
c.3285C>T (p.Phe1095=)
c.3135C>T (p.Phe1045=)
5g.128344440G>CCA360761992FBN2c.3288C>G (p.Phe1096Leu)
c.3189C>G (p.Phe1063Leu)
c.3285C>G (p.Phe1095Leu)
c.3135C>G (p.Phe1045Leu)
5g.128344440G>TCA360761994FBN2c.3288C>A (p.Phe1096Leu)
c.3189C>A (p.Phe1063Leu)
c.3285C>A (p.Phe1095Leu)
c.3135C>A (p.Phe1045Leu)
5g.128344441A>CCA360761996FBN2c.3287T>G (p.Phe1096Cys)
c.3188T>G (p.Phe1063Cys)
c.3284T>G (p.Phe1095Cys)
c.3134T>G (p.Phe1045Cys)
5g.128344441A>GCA360761997FBN2c.3287T>C (p.Phe1096Ser)
c.3188T>C (p.Phe1063Ser)
c.3284T>C (p.Phe1095Ser)
c.3134T>C (p.Phe1045Ser)
5g.128344441A>TCA360761999FBN2c.3287T>A (p.Phe1096Tyr)
c.3188T>A (p.Phe1063Tyr)
c.3284T>A (p.Phe1095Tyr)
c.3134T>A (p.Phe1045Tyr)
5g.128344442A>CCA360762005FBN2c.3286T>G (p.Phe1096Val)
c.3187T>G (p.Phe1063Val)
c.3283T>G (p.Phe1095Val)
c.3133T>G (p.Phe1045Val)
5g.128344442A>GCA360762004FBN2c.3286T>C (p.Phe1096Leu)
c.3187T>C (p.Phe1063Leu)
c.3283T>C (p.Phe1095Leu)
c.3133T>C (p.Phe1045Leu)
5g.128344442A>TCA360762003FBN2c.3286T>A (p.Phe1096Ile)
c.3187T>A (p.Phe1063Ile)
c.3283T>A (p.Phe1095Ile)
c.3133T>A (p.Phe1045Ile)
5g.128344443G>ACA3395276FBN2c.3285C>T (p.Ser1095=)
c.3186C>T (p.Ser1062=)
c.3282C>T (p.Ser1094=)
c.3132C>T (p.Ser1044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128344443G>CCA360762009FBN2c.3285C>G (p.Ser1095Arg)
c.3186C>G (p.Ser1062Arg)
c.3282C>G (p.Ser1094Arg)
c.3132C>G (p.Ser1044Arg)
5g.128344443G=CA1581273749FBN2c.3285C= (p.Ser1095=)
c.3186C= (p.Ser1062=)
c.3282C= (p.Ser1094=)
c.3132C= (p.Ser1044=)
5g.128344443G>TCA360762012FBN2c.3285C>A (p.Ser1095Arg)
c.3186C>A (p.Ser1062Arg)
c.3282C>A (p.Ser1094Arg)
c.3132C>A (p.Ser1044Arg)
5g.128344444C>ACA360762014FBN2c.3284G>T (p.Ser1095Ile)
c.3185G>T (p.Ser1062Ile)
c.3281G>T (p.Ser1094Ile)
c.3131G>T (p.Ser1044Ile)
5g.128344444C>GCA360762016FBN2c.3284G>C (p.Ser1095Thr)
c.3185G>C (p.Ser1062Thr)
c.3281G>C (p.Ser1094Thr)
c.3131G>C (p.Ser1044Thr)
5g.128344444C>TCA360762018FBN2c.3284G>A (p.Ser1095Asn)
c.3185G>A (p.Ser1062Asn)
c.3281G>A (p.Ser1094Asn)
c.3131G>A (p.Ser1044Asn)
 gnomAD v4
5g.128344445T>ACA360762022FBN2c.3283A>T (p.Ser1095Cys)
c.3184A>T (p.Ser1062Cys)
c.3280A>T (p.Ser1094Cys)
c.3130A>T (p.Ser1044Cys)
5g.128344445T>CCA360762023FBN2c.3283A>G (p.Ser1095Gly)
c.3184A>G (p.Ser1062Gly)
c.3280A>G (p.Ser1094Gly)
c.3130A>G (p.Ser1044Gly)
5g.128344445T>GCA360762026FBN2c.3283A>C (p.Ser1095Arg)
c.3184A>C (p.Ser1062Arg)
c.3280A>C (p.Ser1094Arg)
c.3130A>C (p.Ser1044Arg)

Number of alleles fetched