Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128304921C=CA1581255358FBN2n.2584+36G=
n.2503+36G=
c.5800+36G= (n.5800+36G=)
c.5797+36G= (n.5797+36G=)
c.5647+36G= (n.5647+36G=)
5g.128304921C>TCA3394596FBN2n.2584+36G>A
n.2503+36G>A
c.5800+36G>A (n.5800+36G>A)
c.5797+36G>A (n.5797+36G>A)
c.5647+36G>A (n.5647+36G>A)
 dbSNP ExAC
5g.128304923C>TCA2675114507FBN2n.2584+34G>A
n.2503+34G>A
c.5800+34G>A (n.5800+34G>A)
c.5797+34G>A (n.5797+34G>A)
c.5647+34G>A (n.5647+34G>A)
 gnomAD v4
5g.128304924A=CA1581255359FBN2n.2584+33T=
n.2503+33T=
c.5800+33T= (n.5800+33T=)
c.5797+33T= (n.5797+33T=)
c.5647+33T= (n.5647+33T=)
5g.128304924A>GCA3394597FBN2n.2584+33T>C
n.2503+33T>C
c.5800+33T>C (n.5800+33T>C)
c.5797+33T>C (n.5797+33T>C)
c.5647+33T>C (n.5647+33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304925C=CA1581255360FBN2n.2584+32G=
n.2503+32G=
c.5800+32G= (n.5800+32G=)
c.5797+32G= (n.5797+32G=)
c.5647+32G= (n.5647+32G=)
5g.128304925C>TCA3394598FBN2n.2584+32G>A
n.2503+32G>A
c.5800+32G>A (n.5800+32G>A)
c.5797+32G>A (n.5797+32G>A)
c.5647+32G>A (n.5647+32G>A)
 dbSNP ExAC gnomAD v2
5g.128304926T>CCA2768334777FBN2n.2584+31A>G
n.2503+31A>G
c.5800+31A>G (n.5800+31A>G)
c.5797+31A>G (n.5797+31A>G)
c.5647+31A>G (n.5647+31A>G)
5g.128304928C=CA1581255361FBN2n.2584+29G=
n.2503+29G=
c.5800+29G= (n.5800+29G=)
c.5797+29G= (n.5797+29G=)
c.5647+29G= (n.5647+29G=)
5g.128304928C>TCA3394599FBN2n.2584+29G>A
n.2503+29G>A
c.5800+29G>A (n.5800+29G>A)
c.5797+29G>A (n.5797+29G>A)
c.5647+29G>A (n.5647+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304929A=CA1581255362FBN2n.2584+28T=
n.2503+28T=
c.5800+28T= (n.5800+28T=)
c.5797+28T= (n.5797+28T=)
c.5647+28T= (n.5647+28T=)
5g.128304929A>GCA1581255363FBN2n.2584+28T>C
n.2503+28T>C
c.5800+28T>C (n.5800+28T>C)
c.5797+28T>C (n.5797+28T>C)
c.5647+28T>C (n.5647+28T>C)
 dbSNP
5g.128304930C>TCA2675114508FBN2n.2584+27G>A
n.2503+27G>A
c.5800+27G>A (n.5800+27G>A)
c.5797+27G>A (n.5797+27G>A)
c.5647+27G>A (n.5647+27G>A)
 gnomAD v4
5g.128304932C>GCA2675114509FBN2n.2584+25G>C
n.2503+25G>C
c.5800+25G>C (n.5800+25G>C)
c.5797+25G>C (n.5797+25G>C)
c.5647+25G>C (n.5647+25G>C)
 gnomAD v4
5g.128304934C>ACA1581255365FBN2n.2584+23G>T
n.2503+23G>T
c.5800+23G>T (n.5800+23G>T)
c.5797+23G>T (n.5797+23G>T)
c.5647+23G>T (n.5647+23G>T)
 dbSNP
5g.128304934C=CA1581255364FBN2n.2584+23G=
n.2503+23G=
c.5800+23G= (n.5800+23G=)
c.5797+23G= (n.5797+23G=)
c.5647+23G= (n.5647+23G=)
5g.128304934C>GCA1581255366FBN2n.2584+23G>C
n.2503+23G>C
c.5800+23G>C (n.5800+23G>C)
c.5797+23G>C (n.5797+23G>C)
c.5647+23G>C (n.5647+23G>C)
 dbSNP
5g.128304935T>ACA562709599FBN2n.2584+22A>T
n.2503+22A>T
c.5800+22A>T (n.5800+22A>T)
c.5797+22A>T (n.5797+22A>T)
c.5647+22A>T (n.5647+22A>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128304935T>CCA3394600FBN2n.2584+22A>G
n.2503+22A>G
c.5800+22A>G (n.5800+22A>G)
c.5797+22A>G (n.5797+22A>G)
c.5647+22A>G (n.5647+22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304935T>GCA2675114510FBN2n.2584+22A>C
n.2503+22A>C
c.5800+22A>C (n.5800+22A>C)
c.5797+22A>C (n.5797+22A>C)
c.5647+22A>C (n.5647+22A>C)
 gnomAD v4
5g.128304935T=CA1581255367FBN2n.2584+22A=
n.2503+22A=
c.5800+22A= (n.5800+22A=)
c.5797+22A= (n.5797+22A=)
c.5647+22A= (n.5647+22A=)
5g.128304937G>ACA658796629FBN2n.2584+20C>T
n.2503+20C>T
c.5800+20C>T (n.5800+20C>T)
c.5797+20C>T (n.5797+20C>T)
c.5647+20C>T (n.5647+20C>T)
 ClinVar dbSNP gnomAD v4
5g.128304937G>CCA2675114511FBN2n.2584+20C>G
n.2503+20C>G
c.5800+20C>G (n.5800+20C>G)
c.5797+20C>G (n.5797+20C>G)
c.5647+20C>G (n.5647+20C>G)
 gnomAD v4
5g.128304937G=CA1581255368FBN2n.2584+20C=
n.2503+20C=
c.5800+20C= (n.5800+20C=)
c.5797+20C= (n.5797+20C=)
c.5647+20C= (n.5647+20C=)
5g.128304937G>TCA2675114512FBN2n.2584+20C>A
n.2503+20C>A
c.5800+20C>A (n.5800+20C>A)
c.5797+20C>A (n.5797+20C>A)
c.5647+20C>A (n.5647+20C>A)
 gnomAD v4
5g.128304938A=CA1581255369FBN2n.2584+19T=
n.2503+19T=
c.5800+19T= (n.5800+19T=)
c.5797+19T= (n.5797+19T=)
c.5647+19T= (n.5647+19T=)
5g.128304938A>GCA126983084FBN2n.2584+19T>C
n.2503+19T>C
c.5800+19T>C (n.5800+19T>C)
c.5797+19T>C (n.5797+19T>C)
c.5647+19T>C (n.5647+19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128304938_128304939delinsAGCA1581255370FBN2n.2584+18_2584+19delinsCT
n.2503+18_2503+19delinsCT
c.5800+18_5800+19delinsCT (n.5800+18_5800+19delinsCT)
c.5797+18_5797+19delinsCT (n.5797+18_5797+19delinsCT)
c.5647+18_5647+19delinsCT (n.5647+18_5647+19delinsCT)
5g.128304939delCA562709600FBN2n.2584+18del
n.2503+18del
c.5800+18del (n.5800+18del)
c.5797+18del (n.5797+18del)
c.5647+18del (n.5647+18del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304939G>ACA2578395989FBN2n.2584+18C>T
n.2503+18C>T
c.5800+18C>T (n.5800+18C>T)
c.5797+18C>T (n.5797+18C>T)
c.5647+18C>T (n.5647+18C>T)
 gnomAD v4
5g.128304939G>CCA1581255372FBN2n.2584+18C>G
n.2503+18C>G
c.5800+18C>G (n.5800+18C>G)
c.5797+18C>G (n.5797+18C>G)
c.5647+18C>G (n.5647+18C>G)
 dbSNP gnomAD v4
5g.128304939G=CA1581255371FBN2n.2584+18C=
n.2503+18C=
c.5800+18C= (n.5800+18C=)
c.5797+18C= (n.5797+18C=)
c.5647+18C= (n.5647+18C=)
5g.128304940C>ACA126983090FBN2n.2584+17G>T
n.2503+17G>T
c.5800+17G>T (n.5800+17G>T)
c.5797+17G>T (n.5797+17G>T)
c.5647+17G>T (n.5647+17G>T)
 dbSNP gnomAD v4
5g.128304940C=CA1581255373FBN2n.2584+17G=
n.2503+17G=
c.5800+17G= (n.5800+17G=)
c.5797+17G= (n.5797+17G=)
c.5647+17G= (n.5647+17G=)
5g.128304941C>TCA2697546452FBN2n.2584+16G>A
n.2503+16G>A
c.5800+16G>A (n.5800+16G>A)
c.5797+16G>A (n.5797+16G>A)
c.5647+16G>A (n.5647+16G>A)
 ClinVar
5g.128304943C=CA1581255374FBN2n.2584+14G=
n.2503+14G=
c.5800+14G= (n.5800+14G=)
c.5797+14G= (n.5797+14G=)
c.5647+14G= (n.5647+14G=)
5g.128304943C>TCA1081359135FBN2n.2584+14G>A
n.2503+14G>A
c.5800+14G>A (n.5800+14G>A)
c.5797+14G>A (n.5797+14G>A)
c.5647+14G>A (n.5647+14G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128304945T>CCA2675114513FBN2n.2584+12A>G
n.2503+12A>G
c.5800+12A>G (n.5800+12A>G)
c.5797+12A>G (n.5797+12A>G)
c.5647+12A>G (n.5647+12A>G)
 gnomAD v4
5g.128304946G>ACA2539833554FBN2n.2584+11C>T
n.2503+11C>T
c.5800+11C>T (n.5800+11C>T)
c.5797+11C>T (n.5797+11C>T)
c.5647+11C>T (n.5647+11C>T)
5g.128304947C=CA1581255375FBN2n.2584+10G=
n.2503+10G=
c.5800+10G= (n.5800+10G=)
c.5797+10G= (n.5797+10G=)
c.5647+10G= (n.5647+10G=)
5g.128304947C>TCA126983092FBN2n.2584+10G>A
n.2503+10G>A
c.5800+10G>A (n.5800+10G>A)
c.5797+10G>A (n.5797+10G>A)
c.5647+10G>A (n.5647+10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304948C=CA1581255376FBN2n.2584+9G=
n.2503+9G=
c.5800+9G= (n.5800+9G=)
c.5797+9G= (n.5797+9G=)
c.5647+9G= (n.5647+9G=)
5g.128304948C>GCA2675114514FBN2n.2584+9G>C
n.2503+9G>C
c.5800+9G>C (n.5800+9G>C)
c.5797+9G>C (n.5797+9G>C)
c.5647+9G>C (n.5647+9G>C)
 gnomAD v4
5g.128304948C>TCA562709601FBN2n.2584+9G>A
n.2503+9G>A
c.5800+9G>A (n.5800+9G>A)
c.5797+9G>A (n.5797+9G>A)
c.5647+9G>A (n.5647+9G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128304949C>ACA3394601FBN2n.2584+8G>T
n.2503+8G>T
c.5800+8G>T (n.5800+8G>T)
c.5797+8G>T (n.5797+8G>T)
c.5647+8G>T (n.5647+8G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128304949C=CA1581255377FBN2n.2584+8G=
n.2503+8G=
c.5800+8G= (n.5800+8G=)
c.5797+8G= (n.5797+8G=)
c.5647+8G= (n.5647+8G=)
5g.128304951T>ACA2499217538FBN2n.2584+6A>T
n.2503+6A>T
c.5800+6A>T (n.5800+6A>T)
c.5797+6A>T (n.5797+6A>T)
c.5647+6A>T (n.5647+6A>T)
 ClinVar dbSNP gnomAD v4
5g.128304952C=CA1581255378FBN2n.2584+5G=
n.2503+5G=
c.5800+5G= (n.5800+5G=)
c.5797+5G= (n.5797+5G=)
c.5647+5G= (n.5647+5G=)
5g.128304952C>TCA322014FBN2n.2584+5G>A
n.2503+5G>A
c.5800+5G>A (n.5800+5G>A)
c.5797+5G>A (n.5797+5G>A)
c.5647+5G>A (n.5647+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304953T>CCA2675114515FBN2n.2584+4A>G
n.2503+4A>G
c.5800+4A>G (n.5800+4A>G)
c.5797+4A>G (n.5797+4A>G)
c.5647+4A>G (n.5647+4A>G)
 gnomAD v4
5g.128304955A>CCA360739667FBN2n.2584+2T>G
n.2503+2T>G
c.5800+2T>G (n.5800+2T>G)
c.5797+2T>G (n.5797+2T>G)
c.5647+2T>G (n.5647+2T>G)
5g.128304955A>GCA360739668FBN2n.2584+2T>C
n.2503+2T>C
c.5800+2T>C (n.5800+2T>C)
c.5797+2T>C (n.5797+2T>C)
c.5647+2T>C (n.5647+2T>C)
5g.128304955A>TCA360739670FBN2n.2584+2T>A
n.2503+2T>A
c.5800+2T>A (n.5800+2T>A)
c.5797+2T>A (n.5797+2T>A)
c.5647+2T>A (n.5647+2T>A)
5g.128304956C>ACA360739673FBN2n.2584+1G>T
n.2503+1G>T
c.5800+1G>T (n.5800+1G>T)
c.5797+1G>T (n.5797+1G>T)
c.5647+1G>T (n.5647+1G>T)
5g.128304956C>GCA360739675FBN2n.2584+1G>C
n.2503+1G>C
c.5800+1G>C (n.5800+1G>C)
c.5797+1G>C (n.5797+1G>C)
c.5647+1G>C (n.5647+1G>C)
5g.128304956C>TCA360739676FBN2n.2584+1G>A
n.2503+1G>A
c.5800+1G>A (n.5800+1G>A)
c.5797+1G>A (n.5797+1G>A)
c.5647+1G>A (n.5647+1G>A)
5g.128304957C>ACA360739682FBN2n.2584G>T
n.2503G>T
c.5800G>T (p.Asp1934Tyr)
c.5797G>T (p.Asp1933Tyr)
c.5647G>T (p.Asp1883Tyr)
5g.128304957C>GCA360739681FBN2n.2584G>C
n.2503G>C
c.5800G>C (p.Asp1934His)
c.5797G>C (p.Asp1933His)
c.5647G>C (p.Asp1883His)
5g.128304957C>TCA360739679FBN2n.2584G>A
n.2503G>A
c.5800G>A (p.Asp1934Asn)
c.5797G>A (p.Asp1933Asn)
c.5647G>A (p.Asp1883Asn)
5g.128304958C>ACA360739685FBN2n.2583G>T
n.2502G>T
c.5799G>T (p.Met1933Ile)
c.5796G>T (p.Met1932Ile)
c.5646G>T (p.Met1882Ile)
5g.128304958C=CA1581255379FBN2n.2583G=
n.2502G=
c.5799G= (p.Met1933=)
c.5796G= (p.Met1932=)
c.5646G= (p.Met1882=)
5g.128304958C>GCA360739687FBN2n.2583G>C
n.2502G>C
c.5799G>C (p.Met1933Ile)
c.5796G>C (p.Met1932Ile)
c.5646G>C (p.Met1882Ile)
 gnomAD v4
5g.128304958C>TCA360739688FBN2n.2583G>A
n.2502G>A
c.5799G>A (p.Met1933Ile)
c.5796G>A (p.Met1932Ile)
c.5646G>A (p.Met1882Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304959A=CA1581255380FBN2n.2582T=
n.2501T=
c.5798T= (p.Met1933=)
c.5795T= (p.Met1932=)
c.5645T= (p.Met1882=)
5g.128304959A>CCA360739691FBN2n.2582T>G
n.2501T>G
c.5798T>G (p.Met1933Arg)
c.5795T>G (p.Met1932Arg)
c.5645T>G (p.Met1882Arg)
5g.128304959A>GCA360739693FBN2n.2582T>C
n.2501T>C
c.5798T>C (p.Met1933Thr)
c.5795T>C (p.Met1932Thr)
c.5645T>C (p.Met1882Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.128304959A>TCA360739695FBN2n.2582T>A
n.2501T>A
c.5798T>A (p.Met1933Lys)
c.5795T>A (p.Met1932Lys)
c.5645T>A (p.Met1882Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304960T>ACA360739697FBN2n.2581A>T
n.2500A>T
c.5797A>T (p.Met1933Leu)
c.5794A>T (p.Met1932Leu)
c.5644A>T (p.Met1882Leu)
5g.128304960T>CCA360739701FBN2n.2581A>G
n.2500A>G
c.5797A>G (p.Met1933Val)
c.5794A>G (p.Met1932Val)
c.5644A>G (p.Met1882Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128304960T>GCA360739699FBN2n.2581A>C
n.2500A>C
c.5797A>C (p.Met1933Leu)
c.5794A>C (p.Met1932Leu)
c.5644A>C (p.Met1882Leu)
5g.128304960T=CA1581255381FBN2n.2581A=
n.2500A=
c.5797A= (p.Met1933=)
c.5794A= (p.Met1932=)
c.5644A= (p.Met1882=)
5g.128304961G>ACA446306341FBN2n.2580C>T
n.2499C>T
c.5796C>T (p.Cys1932=)
c.5793C>T (p.Cys1931=)
c.5643C>T (p.Cys1881=)
5g.128304961G>CCA360739703FBN2n.2580C>G
n.2499C>G
c.5796C>G (p.Cys1932Trp)
c.5793C>G (p.Cys1931Trp)
c.5643C>G (p.Cys1881Trp)
5g.128304961G>TCA360739705FBN2n.2580C>A
n.2499C>A
c.5796C>A (p.Cys1932Ter)
c.5793C>A (p.Cys1931Ter)
c.5643C>A (p.Cys1881Ter)
5g.128304962C>ACA360739707FBN2n.2579G>T
n.2498G>T
c.5795G>T (p.Cys1932Phe)
c.5792G>T (p.Cys1931Phe)
c.5642G>T (p.Cys1881Phe)
5g.128304962C>GCA360739709FBN2n.2579G>C
n.2498G>C
c.5795G>C (p.Cys1932Ser)
c.5792G>C (p.Cys1931Ser)
c.5642G>C (p.Cys1881Ser)
5g.128304962C>TCA360739710FBN2n.2579G>A
n.2498G>A
c.5795G>A (p.Cys1932Tyr)
c.5792G>A (p.Cys1931Tyr)
c.5642G>A (p.Cys1881Tyr)
5g.128304963A>CCA360739712FBN2n.2578T>G
n.2497T>G
c.5794T>G (p.Cys1932Gly)
c.5791T>G (p.Cys1931Gly)
c.5641T>G (p.Cys1881Gly)
5g.128304963A>GCA360739714FBN2n.2578T>C
n.2497T>C
c.5794T>C (p.Cys1932Arg)
c.5791T>C (p.Cys1931Arg)
c.5641T>C (p.Cys1881Arg)
5g.128304963A>TCA360739716FBN2n.2578T>A
n.2497T>A
c.5794T>A (p.Cys1932Ser)
c.5791T>A (p.Cys1931Ser)
c.5641T>A (p.Cys1881Ser)
5g.128304964C>ACA360739718FBN2n.2577G>T
n.2496G>T
c.5793G>T (p.Met1931Ile)
c.5790G>T (p.Met1930Ile)
c.5640G>T (p.Met1880Ile)
5g.128304964C=CA1581255382FBN2n.2577G=
n.2496G=
c.5793G= (p.Met1931=)
c.5790G= (p.Met1930=)
c.5640G= (p.Met1880=)
5g.128304964C>GCA360739720FBN2n.2577G>C
n.2496G>C
c.5793G>C (p.Met1931Ile)
c.5790G>C (p.Met1930Ile)
c.5640G>C (p.Met1880Ile)
5g.128304964C>TCA360739722FBN2n.2577G>A
n.2496G>A
c.5793G>A (p.Met1931Ile)
c.5790G>A (p.Met1930Ile)
c.5640G>A (p.Met1880Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.128304965A=CA1581255383FBN2n.2576T=
n.2495T=
c.5792T= (p.Met1931=)
c.5789T= (p.Met1930=)
c.5639T= (p.Met1880=)
5g.128304965A>CCA360739725FBN2n.2576T>G
n.2495T>G
c.5792T>G (p.Met1931Arg)
c.5789T>G (p.Met1930Arg)
c.5639T>G (p.Met1880Arg)
5g.128304965A>GCA360739734FBN2n.2576T>C
n.2495T>C
c.5792T>C (p.Met1931Thr)
c.5789T>C (p.Met1930Thr)
c.5639T>C (p.Met1880Thr)
5g.128304965A>TCA360739732FBN2n.2576T>A
n.2495T>A
c.5792T>A (p.Met1931Lys)
c.5789T>A (p.Met1930Lys)
c.5639T>A (p.Met1880Lys)
 dbSNP
5g.128304966T>ACA360739737FBN2n.2575A>T
n.2494A>T
c.5791A>T (p.Met1931Leu)
c.5788A>T (p.Met1930Leu)
c.5638A>T (p.Met1880Leu)
 gnomAD v4
5g.128304966T>CCA360739741FBN2n.2575A>G
n.2494A>G
c.5791A>G (p.Met1931Val)
c.5788A>G (p.Met1930Val)
c.5638A>G (p.Met1880Val)
5g.128304966T>GCA360739738FBN2n.2575A>C
n.2494A>C
c.5791A>C (p.Met1931Leu)
c.5788A>C (p.Met1930Leu)
c.5638A>C (p.Met1880Leu)
5g.128304967G>ACA446306344FBN2n.2574C>T
n.2493C>T
c.5790C>T (p.Thr1930=)
c.5787C>T (p.Thr1929=)
c.5637C>T (p.Thr1879=)
5g.128304967G>CCA446306345FBN2n.2574C>G
n.2493C>G
c.5790C>G (p.Thr1930=)
c.5787C>G (p.Thr1929=)
c.5637C>G (p.Thr1879=)
5g.128304967G>TCA446306346FBN2n.2574C>A
n.2493C>A
c.5790C>A (p.Thr1930=)
c.5787C>A (p.Thr1929=)
c.5637C>A (p.Thr1879=)
5g.128304968G>ACA360739743FBN2n.2573C>T
n.2492C>T
c.5789C>T (p.Thr1930Ile)
c.5786C>T (p.Thr1929Ile)
c.5636C>T (p.Thr1879Ile)
5g.128304968G>CCA360739745FBN2n.2573C>G
n.2492C>G
c.5789C>G (p.Thr1930Ser)
c.5786C>G (p.Thr1929Ser)
c.5636C>G (p.Thr1879Ser)
5g.128304968G>TCA360739747FBN2n.2573C>A
n.2492C>A
c.5789C>A (p.Thr1930Asn)
c.5786C>A (p.Thr1929Asn)
c.5636C>A (p.Thr1879Asn)
 ClinVar
5g.128304969T>ACA360739749FBN2n.2572A>T
n.2491A>T
c.5788A>T (p.Thr1930Ser)
c.5785A>T (p.Thr1929Ser)
c.5635A>T (p.Thr1879Ser)
5g.128304969T>CCA360739751FBN2n.2572A>G
n.2491A>G
c.5788A>G (p.Thr1930Ala)
c.5785A>G (p.Thr1929Ala)
c.5635A>G (p.Thr1879Ala)
5g.128304969T>GCA360739753FBN2n.2572A>C
n.2491A>C
c.5788A>C (p.Thr1930Pro)
c.5785A>C (p.Thr1929Pro)
c.5635A>C (p.Thr1879Pro)
5g.128304970C>ACA360739757FBN2n.2571G>T
n.2490G>T
c.5787G>T (p.Gln1929His)
c.5784G>T (p.Gln1928His)
c.5634G>T (p.Gln1878His)
5g.128304970C=CA1581255384FBN2n.2571G=
n.2490G=
c.5787G= (p.Gln1929=)
c.5784G= (p.Gln1928=)
c.5634G= (p.Gln1878=)
5g.128304970C>GCA360739758FBN2n.2571G>C
n.2490G>C
c.5787G>C (p.Gln1929His)
c.5784G>C (p.Gln1928His)
c.5634G>C (p.Gln1878His)
5g.128304970C>TCA3394602FBN2n.2571G>A
n.2490G>A
c.5787G>A (p.Gln1929=)
c.5784G>A (p.Gln1928=)
c.5634G>A (p.Gln1878=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304971T>ACA360739762FBN2n.2570A>T
n.2489A>T
c.5786A>T (p.Gln1929Leu)
c.5783A>T (p.Gln1928Leu)
c.5633A>T (p.Gln1878Leu)
5g.128304971T>CCA360739764FBN2n.2570A>G
n.2489A>G
c.5786A>G (p.Gln1929Arg)
c.5783A>G (p.Gln1928Arg)
c.5633A>G (p.Gln1878Arg)
5g.128304971T>GCA360739765FBN2n.2570A>C
n.2489A>C
c.5786A>C (p.Gln1929Pro)
c.5783A>C (p.Gln1928Pro)
c.5633A>C (p.Gln1878Pro)
5g.128304972G>ACA360739768FBN2n.2569C>T
n.2488C>T
c.5785C>T (p.Gln1929Ter)
c.5782C>T (p.Gln1928Ter)
c.5632C>T (p.Gln1878Ter)
 gnomAD v4
5g.128304972G>CCA360739771FBN2n.2569C>G
n.2488C>G
c.5785C>G (p.Gln1929Glu)
c.5782C>G (p.Gln1928Glu)
c.5632C>G (p.Gln1878Glu)
5g.128304972G>TCA360739770FBN2n.2569C>A
n.2488C>A
c.5785C>A (p.Gln1929Lys)
c.5782C>A (p.Gln1928Lys)
c.5632C>A (p.Gln1878Lys)
5g.128304973G>ACA446306351FBN2n.2568C>T
n.2487C>T
c.5784C>T (p.Asp1928=)
c.5781C>T (p.Asp1927=)
c.5631C>T (p.Asp1877=)
 dbSNP gnomAD v3 gnomAD v4
5g.128304973G>CCA360739774FBN2n.2568C>G
n.2487C>G
c.5784C>G (p.Asp1928Glu)
c.5781C>G (p.Asp1927Glu)
c.5631C>G (p.Asp1877Glu)
5g.128304973G=CA1581255385FBN2n.2568C=
n.2487C=
c.5784C= (p.Asp1928=)
c.5781C= (p.Asp1927=)
c.5631C= (p.Asp1877=)
5g.128304973G>TCA360739776FBN2n.2568C>A
n.2487C>A
c.5784C>A (p.Asp1928Glu)
c.5781C>A (p.Asp1927Glu)
c.5631C>A (p.Asp1877Glu)
5g.128304974T>ACA360739779FBN2n.2567A>T
n.2486A>T
c.5783A>T (p.Asp1928Val)
c.5780A>T (p.Asp1927Val)
c.5630A>T (p.Asp1877Val)
5g.128304974T>CCA360739781FBN2n.2567A>G
n.2486A>G
c.5783A>G (p.Asp1928Gly)
c.5780A>G (p.Asp1927Gly)
c.5630A>G (p.Asp1877Gly)
5g.128304974T>GCA360739782FBN2n.2567A>C
n.2486A>C
c.5783A>C (p.Asp1928Ala)
c.5780A>C (p.Asp1927Ala)
c.5630A>C (p.Asp1877Ala)
5g.128304975C>ACA360739785FBN2n.2566G>T
n.2485G>T
c.5782G>T (p.Asp1928Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5629G>T (p.Asp1877Tyr)
5g.128304975C>GCA360739787FBN2n.2566G>C
n.2485G>C
c.5782G>C (p.Asp1928His)
c.5779G>C (p.Asp1927His)
c.5629G>C (p.Asp1877His)
5g.128304975C>TCA360739788FBN2n.2566G>A
n.2485G>A
c.5782G>A (p.Asp1928Asn)
c.5779G>A (p.Asp1927Asn)
c.5629G>A (p.Asp1877Asn)
5g.128304976C>ACA360739791FBN2n.2565G>T
n.2484G>T
c.5781G>T (p.Gln1927His)
c.5778G>T (p.Gln1926His)
c.5628G>T (p.Gln1876His)
5g.128304976C>GCA360739792FBN2n.2565G>C
n.2484G>C
c.5781G>C (p.Gln1927His)
c.5778G>C (p.Gln1926His)
c.5628G>C (p.Gln1876His)
5g.128304976C>TCA446306353FBN2n.2565G>A
n.2484G>A
c.5781G>A (p.Gln1927=)
c.5778G>A (p.Gln1926=)
c.5628G>A (p.Gln1876=)
5g.128304977T>ACA360739797FBN2n.2564A>T
n.2483A>T
c.5780A>T (p.Gln1927Leu)
c.5777A>T (p.Gln1926Leu)
c.5627A>T (p.Gln1876Leu)
5g.128304977T>CCA360739799FBN2n.2564A>G
n.2483A>G
c.5780A>G (p.Gln1927Arg)
c.5777A>G (p.Gln1926Arg)
c.5627A>G (p.Gln1876Arg)
 dbSNP gnomAD v2
5g.128304977T>GCA360739795FBN2n.2564A>C
n.2483A>C
c.5780A>C (p.Gln1927Pro)
c.5777A>C (p.Gln1926Pro)
c.5627A>C (p.Gln1876Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304977T=CA1581255386FBN2n.2564A=
n.2483A=
c.5780A= (p.Gln1927=)
c.5777A= (p.Gln1926=)
c.5627A= (p.Gln1876=)
5g.128304978G>ACA360739801FBN2n.2563C>T
n.2482C>T
c.5779C>T (p.Gln1927Ter)
c.5776C>T (p.Gln1926Ter)
c.5626C>T (p.Gln1876Ter)
5g.128304978G>CCA360739803FBN2n.2563C>G
n.2482C>G
c.5779C>G (p.Gln1927Glu)
c.5776C>G (p.Gln1926Glu)
c.5626C>G (p.Gln1876Glu)
 gnomAD v4
5g.128304978G=CA1581255387FBN2n.2563C=
n.2482C=
c.5779C= (p.Gln1927=)
c.5776C= (p.Gln1926=)
c.5626C= (p.Gln1876=)
5g.128304978G>TCA3394603FBN2n.2563C>A
n.2482C>A
c.5779C>A (p.Gln1927Lys)
c.5776C>A (p.Gln1926Lys)
c.5626C>A (p.Gln1876Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128304979A=CA1581255388FBN2n.2562T=
n.2481T=
c.5778T= (p.Ser1926=)
c.5775T= (p.Ser1925=)
c.5625T= (p.Ser1875=)
5g.128304979A>CCA446306355FBN2n.2562T>G
n.2481T>G
c.5778T>G (p.Ser1926=)
c.5775T>G (p.Ser1925=)
c.5625T>G (p.Ser1875=)
5g.128304979A>GCA446306354FBN2n.2562T>C
n.2481T>C
c.5778T>C (p.Ser1926=)
c.5775T>C (p.Ser1925=)
c.5625T>C (p.Ser1875=)
5g.128304979A>TCA126983114FBN2n.2562T>A
n.2481T>A
c.5778T>A (p.Ser1926=)
c.5775T>A (p.Ser1925=)
c.5625T>A (p.Ser1875=)
 dbSNP
5g.128304980G>ACA360739807FBN2n.2561C>T
n.2480C>T
c.5777C>T (p.Ser1926Phe)
c.5774C>T (p.Ser1925Phe)
c.5624C>T (p.Ser1875Phe)
 gnomAD v4
5g.128304980G>CCA360739808FBN2n.2561C>G
n.2480C>G
c.5777C>G (p.Ser1926Cys)
c.5774C>G (p.Ser1925Cys)
c.5624C>G (p.Ser1875Cys)
5g.128304980G>TCA360739810FBN2n.2561C>A
n.2480C>A
c.5777C>A (p.Ser1926Tyr)
c.5774C>A (p.Ser1925Tyr)
c.5624C>A (p.Ser1875Tyr)
5g.128304981A>CCA360739812FBN2n.2560T>G
n.2479T>G
c.5776T>G (p.Ser1926Ala)
c.5773T>G (p.Ser1925Ala)
c.5623T>G (p.Ser1875Ala)
5g.128304981A>GCA360739813FBN2n.2560T>C
n.2479T>C
c.5776T>C (p.Ser1926Pro)
c.5773T>C (p.Ser1925Pro)
c.5623T>C (p.Ser1875Pro)
5g.128304981A>TCA360739815FBN2n.2560T>A
n.2479T>A
c.5776T>A (p.Ser1926Thr)
c.5773T>A (p.Ser1925Thr)
c.5623T>A (p.Ser1875Thr)
5g.128304982A>CCA446306356FBN2n.2559T>G
n.2478T>G
c.5775T>G (p.Ala1925=)
c.5772T>G (p.Ala1924=)
c.5622T>G (p.Ala1874=)
 gnomAD v4
5g.128304982A>GCA446306357FBN2n.2559T>C
n.2478T>C
c.5775T>C (p.Ala1925=)
c.5772T>C (p.Ala1924=)
c.5622T>C (p.Ala1874=)
 ClinVar dbSNP gnomAD v4
5g.128304982A>TCA446306358FBN2n.2559T>A
n.2478T>A
c.5775T>A (p.Ala1925=)
c.5772T>A (p.Ala1924=)
c.5622T>A (p.Ala1874=)
5g.128304983G>ACA360739818FBN2n.2558C>T
n.2477C>T
c.5774C>T (p.Ala1925Val)
c.5771C>T (p.Ala1924Val)
c.5621C>T (p.Ala1874Val)
 dbSNP
5g.128304983G>CCA360739819FBN2n.2558C>G
n.2477C>G
c.5774C>G (p.Ala1925Gly)
c.5771C>G (p.Ala1924Gly)
c.5621C>G (p.Ala1874Gly)
5g.128304983G=CA1581255389FBN2n.2558C=
n.2477C=
c.5774C= (p.Ala1925=)
c.5771C= (p.Ala1924=)
c.5621C= (p.Ala1874=)
5g.128304983G>TCA360739821FBN2n.2558C>A
n.2477C>A
c.5774C>A (p.Ala1925Asp)
c.5771C>A (p.Ala1924Asp)
c.5621C>A (p.Ala1874Asp)
5g.128304984C>ACA360739825FBN2n.2557G>T
n.2476G>T
c.5773G>T (p.Ala1925Ser)
c.5770G>T (p.Ala1924Ser)
c.5620G>T (p.Ala1874Ser)
 gnomAD v4
5g.128304984C>GCA360739826FBN2n.2557G>C
n.2476G>C
c.5773G>C (p.Ala1925Pro)
c.5770G>C (p.Ala1924Pro)
c.5620G>C (p.Ala1874Pro)
 gnomAD v4
5g.128304984C>TCA360739823FBN2n.2557G>A
n.2476G>A
c.5773G>A (p.Ala1925Thr)
c.5770G>A (p.Ala1924Thr)
c.5620G>A (p.Ala1874Thr)
5g.128304985C>ACA360739828FBN2n.2556G>T
n.2475G>T
c.5772G>T (p.Lys1924Asn)
c.5769G>T (p.Lys1923Asn)
c.5619G>T (p.Lys1873Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.128304985C=CA1581255390FBN2n.2556G=
n.2475G=
c.5772G= (p.Lys1924=)
c.5769G= (p.Lys1923=)
c.5619G= (p.Lys1873=)
5g.128304985C>GCA360739830FBN2n.2556G>C
n.2475G>C
c.5772G>C (p.Lys1924Asn)
c.5769G>C (p.Lys1923Asn)
c.5619G>C (p.Lys1873Asn)
5g.128304985C>TCA446306359FBN2n.2556G>A
n.2475G>A
c.5772G>A (p.Lys1924=)
c.5769G>A (p.Lys1923=)
c.5619G>A (p.Lys1873=)
 gnomAD v4
5g.128304986T>ACA360739833FBN2n.2555A>T
n.2474A>T
c.5771A>T (p.Lys1924Met)
c.5768A>T (p.Lys1923Met)
c.5618A>T (p.Lys1873Met)
 dbSNP gnomAD v2
5g.128304986T>CCA360739835FBN2n.2555A>G
n.2474A>G
c.5771A>G (p.Lys1924Arg)
c.5768A>G (p.Lys1923Arg)
c.5618A>G (p.Lys1873Arg)
5g.128304986T>GCA360739836FBN2n.2555A>C
n.2474A>C
c.5771A>C (p.Lys1924Thr)
c.5768A>C (p.Lys1923Thr)
c.5618A>C (p.Lys1873Thr)
5g.128304986T=CA1581255391FBN2n.2555A=
n.2474A=
c.5771A= (p.Lys1924=)
c.5768A= (p.Lys1923=)
c.5618A= (p.Lys1873=)
5g.128304987T>ACA360739842FBN2n.2554A>T
n.2473A>T
c.5770A>T (p.Lys1924Ter)
c.5767A>T (p.Lys1923Ter)
c.5617A>T (p.Lys1873Ter)
5g.128304987T>CCA360739839FBN2n.2554A>G
n.2473A>G
c.5770A>G (p.Lys1924Glu)
c.5767A>G (p.Lys1923Glu)
c.5617A>G (p.Lys1873Glu)
5g.128304987T>GCA360739841FBN2n.2554A>C
n.2473A>C
c.5770A>C (p.Lys1924Gln)
c.5767A>C (p.Lys1923Gln)
c.5617A>C (p.Lys1873Gln)
5g.128304988A>CCA360739843FBN2n.2553T>G
n.2472T>G
c.5769T>G (p.Phe1923Leu)
c.5766T>G (p.Phe1922Leu)
c.5616T>G (p.Phe1872Leu)
5g.128304988A>GCA446306360FBN2n.2553T>C
n.2472T>C
c.5769T>C (p.Phe1923=)
c.5766T>C (p.Phe1922=)
c.5616T>C (p.Phe1872=)
 gnomAD v4
5g.128304988A>TCA360739845FBN2n.2553T>A
n.2472T>A
c.5769T>A (p.Phe1923Leu)
c.5766T>A (p.Phe1922Leu)
c.5616T>A (p.Phe1872Leu)
 gnomAD v4
5g.128304989A>CCA360739847FBN2n.2552T>G
n.2471T>G
c.5768T>G (p.Phe1923Cys)
c.5765T>G (p.Phe1922Cys)
c.5615T>G (p.Phe1872Cys)
5g.128304989A>GCA360739849FBN2n.2552T>C
n.2471T>C
c.5768T>C (p.Phe1923Ser)
c.5765T>C (p.Phe1922Ser)
c.5615T>C (p.Phe1872Ser)
5g.128304989A>TCA360739850FBN2n.2552T>A
n.2471T>A
c.5768T>A (p.Phe1923Tyr)
c.5765T>A (p.Phe1922Tyr)
c.5615T>A (p.Phe1872Tyr)
5g.128304990A>CCA360739853FBN2n.2551T>G
n.2470T>G
c.5767T>G (p.Phe1923Val)
c.5764T>G (p.Phe1922Val)
c.5614T>G (p.Phe1872Val)
5g.128304990A>GCA360739857FBN2n.2551T>C
n.2470T>C
c.5767T>C (p.Phe1923Leu)
c.5764T>C (p.Phe1922Leu)
c.5614T>C (p.Phe1872Leu)
5g.128304990A>TCA360739855FBN2n.2551T>A
n.2470T>A
c.5767T>A (p.Phe1923Ile)
c.5764T>A (p.Phe1922Ile)
c.5614T>A (p.Phe1872Ile)
5g.128304991G>ACA446306361FBN2n.2550C>T
n.2469C>T
c.5766C>T (p.Gly1922=)
c.5763C>T (p.Gly1921=)
c.5613C>T (p.Gly1871=)
5g.128304991G>CCA446306362FBN2n.2550C>G
n.2469C>G
c.5766C>G (p.Gly1922=)
c.5763C>G (p.Gly1921=)
c.5613C>G (p.Gly1871=)
5g.128304991G>TCA446306363FBN2n.2550C>A
n.2469C>A
c.5766C>A (p.Gly1922=)
c.5763C>A (p.Gly1921=)
c.5613C>A (p.Gly1871=)
5g.128304992C>ACA360739860FBN2n.2549G>T
n.2468G>T
c.5765G>T (p.Gly1922Val)
c.5762G>T (p.Gly1921Val)
c.5612G>T (p.Gly1871Val)
5g.128304992C>GCA360739864FBN2n.2549G>C
n.2468G>C
c.5765G>C (p.Gly1922Ala)
c.5762G>C (p.Gly1921Ala)
c.5612G>C (p.Gly1871Ala)
5g.128304992C>TCA360739862FBN2n.2549G>A
n.2468G>A
c.5765G>A (p.Gly1922Asp)
c.5762G>A (p.Gly1921Asp)
c.5612G>A (p.Gly1871Asp)
5g.128304993C>ACA360739866FBN2n.2548G>T
n.2467G>T
c.5764G>T (p.Gly1922Cys)
c.5761G>T (p.Gly1921Cys)
c.5611G>T (p.Gly1871Cys)
5g.128304993C>GCA360739867FBN2n.2548G>C
n.2467G>C
c.5764G>C (p.Gly1922Arg)
c.5761G>C (p.Gly1921Arg)
c.5611G>C (p.Gly1871Arg)
5g.128304993C>TCA360739869FBN2n.2548G>A
n.2467G>A
c.5764G>A (p.Gly1922Ser)
c.5761G>A (p.Gly1921Ser)
c.5611G>A (p.Gly1871Ser)
 gnomAD v4
5g.128304994A>CCA360739872FBN2n.2547T>G
n.2466T>G
c.5763T>G (p.Asn1921Lys)
c.5760T>G (p.Asn1920Lys)
c.5610T>G (p.Asn1870Lys)
5g.128304994A>GCA446306366FBN2n.2547T>C
n.2466T>C
c.5763T>C (p.Asn1921=)
c.5760T>C (p.Asn1920=)
c.5610T>C (p.Asn1870=)
 gnomAD v4
5g.128304994A>TCA360739873FBN2n.2547T>A
n.2466T>A
c.5763T>A (p.Asn1921Lys)
c.5760T>A (p.Asn1920Lys)
c.5610T>A (p.Asn1870Lys)
5g.128304995T>ACA360739876FBN2n.2546A>T
n.2465A>T
c.5762A>T (p.Asn1921Ile)
c.5759A>T (p.Asn1920Ile)
c.5609A>T (p.Asn1870Ile)
5g.128304995T>CCA360739877FBN2n.2546A>G
n.2465A>G
c.5762A>G (p.Asn1921Ser)
c.5759A>G (p.Asn1920Ser)
c.5609A>G (p.Asn1870Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128304995T>GCA360739879FBN2n.2546A>C
n.2465A>C
c.5762A>C (p.Asn1921Thr)
c.5759A>C (p.Asn1920Thr)
c.5609A>C (p.Asn1870Thr)
5g.128304995T=CA1581255392FBN2n.2546A=
n.2465A=
c.5762A= (p.Asn1921=)
c.5759A= (p.Asn1920=)
c.5609A= (p.Asn1870=)
5g.128304996_128304998dupCA446306367FBN2n.2544_2546dup
n.2463_2465dup
c.5760_5762dup (p.Asn1921_Gly1922insAsn)
c.5757_5759dup (p.Asn1920_Gly1921insAsn)
c.5607_5609dup (p.Asn1870_Gly1871insAsn)
5g.128304996T>ACA126983115FBN2n.2545A>T
n.2464A>T
c.5761A>T (p.Asn1921Tyr)
c.5758A>T (p.Asn1920Tyr)
c.5608A>T (p.Asn1870Tyr)
 dbSNP
5g.128304996T>CCA360739884FBN2n.2545A>G
n.2464A>G
c.5761A>G (p.Asn1921Asp)
c.5758A>G (p.Asn1920Asp)
c.5608A>G (p.Asn1870Asp)
 gnomAD v4
5g.128304996T>GCA360739882FBN2n.2545A>C
n.2464A>C
c.5761A>C (p.Asn1921His)
c.5758A>C (p.Asn1920His)
c.5608A>C (p.Asn1870His)
5g.128304996T=CA1581255393FBN2n.2545A=
n.2464A=
c.5761A= (p.Asn1921=)
c.5758A= (p.Asn1920=)
c.5608A= (p.Asn1870=)
5g.128304997G>ACA126983116FBN2n.2544C>T
n.2463C>T
c.5760C>T (p.His1920=)
c.5757C>T (p.His1919=)
c.5607C>T (p.His1869=)
 dbSNP
5g.128304997G>CCA360739886FBN2n.2544C>G
n.2463C>G
c.5760C>G (p.His1920Gln)
c.5757C>G (p.His1919Gln)
c.5607C>G (p.His1869Gln)
5g.128304997G=CA1581255394FBN2n.2544C=
n.2463C=
c.5760C= (p.His1920=)
c.5757C= (p.His1919=)
c.5607C= (p.His1869=)
5g.128304997G>TCA360739888FBN2n.2544C>A
n.2463C>A
c.5760C>A (p.His1920Gln)
c.5757C>A (p.His1919Gln)
c.5607C>A (p.His1869Gln)
5g.128304998T>ACA360739889FBN2n.2543A>T
n.2462A>T
c.5759A>T (p.His1920Leu)
c.5756A>T (p.His1919Leu)
c.5606A>T (p.His1869Leu)
5g.128304998T>CCA360739891FBN2n.2543A>G
n.2462A>G
c.5759A>G (p.His1920Arg)
c.5756A>G (p.His1919Arg)
c.5606A>G (p.His1869Arg)
 ClinVar dbSNP gnomAD v4
5g.128304998T>GCA360739893FBN2n.2543A>C
n.2462A>C
c.5759A>C (p.His1920Pro)
c.5756A>C (p.His1919Pro)
c.5606A>C (p.His1869Pro)
5g.128304998T=CA1581255395FBN2n.2543A=
n.2462A=
c.5759A= (p.His1920=)
c.5756A= (p.His1919=)
c.5606A= (p.His1869=)
5g.128304999G>ACA360739895FBN2n.2542C>T
n.2461C>T
c.5758C>T (p.His1920Tyr)
c.5755C>T (p.His1919Tyr)
c.5605C>T (p.His1869Tyr)
 gnomAD v4
5g.128304999G>CCA360739898FBN2n.2542C>G
n.2461C>G
c.5758C>G (p.His1920Asp)
c.5755C>G (p.His1919Asp)
c.5605C>G (p.His1869Asp)
5g.128304999G>TCA360739896FBN2n.2542C>A
n.2461C>A
c.5758C>A (p.His1920Asn)
c.5755C>A (p.His1919Asn)
c.5605C>A (p.His1869Asn)
5g.128305000G>ACA446306368FBN2n.2541C>T
n.2460C>T
c.5757C>T (p.Cys1919=)
c.5754C>T (p.Cys1918=)
c.5604C>T (p.Cys1868=)
 gnomAD v4
5g.128305000G>CCA360739900FBN2n.2541C>G
n.2460C>G
c.5757C>G (p.Cys1919Trp)
c.5754C>G (p.Cys1918Trp)
c.5604C>G (p.Cys1868Trp)
5g.128305000G>TCA360739902FBN2n.2541C>A
n.2460C>A
c.5757C>A (p.Cys1919Ter)
c.5754C>A (p.Cys1918Ter)
c.5604C>A (p.Cys1868Ter)
5g.128305001C>ACA360739904FBN2n.2540G>T
n.2459G>T
c.5756G>T (p.Cys1919Phe)
c.5753G>T (p.Cys1918Phe)
c.5603G>T (p.Cys1868Phe)
 dbSNP
5g.128305001C=CA1581255396FBN2n.2540G=
n.2459G=
c.5756G= (p.Cys1919=)
c.5753G= (p.Cys1918=)
c.5603G= (p.Cys1868=)
5g.128305001C>GCA360739906FBN2n.2540G>C
n.2459G>C
c.5756G>C (p.Cys1919Ser)
c.5753G>C (p.Cys1918Ser)
c.5603G>C (p.Cys1868Ser)
5g.128305001C>TCA360739907FBN2n.2540G>A
n.2459G>A
c.5756G>A (p.Cys1919Tyr)
c.5753G>A (p.Cys1918Tyr)
c.5603G>A (p.Cys1868Tyr)
5g.128305002A>CCA360739911FBN2n.2539T>G
n.2458T>G
c.5755T>G (p.Cys1919Gly)
c.5752T>G (p.Cys1918Gly)
c.5602T>G (p.Cys1868Gly)
5g.128305002A>GCA360739913FBN2n.2539T>C
n.2458T>C
c.5755T>C (p.Cys1919Arg)
c.5752T>C (p.Cys1918Arg)
c.5602T>C (p.Cys1868Arg)
5g.128305002A>TCA360739914FBN2n.2539T>A
n.2458T>A
c.5755T>A (p.Cys1919Ser)
c.5752T>A (p.Cys1918Ser)
c.5602T>A (p.Cys1868Ser)
5g.128305003G>ACA446306369FBN2n.2538C>T
n.2457C>T
c.5754C>T (p.Ile1918=)
c.5751C>T (p.Ile1917=)
c.5601C>T (p.Ile1867=)
5g.128305003G>CCA360739916FBN2n.2538C>G
n.2457C>G
c.5754C>G (p.Ile1918Met)
c.5751C>G (p.Ile1917Met)
c.5601C>G (p.Ile1867Met)
5g.128305003G=CA1581255397FBN2n.2538C=
n.2457C=
c.5754C= (p.Ile1918=)
c.5751C= (p.Ile1917=)
c.5601C= (p.Ile1867=)
5g.128305003G>TCA446306370FBN2n.2538C>A
n.2457C>A
c.5754C>A (p.Ile1918=)
c.5751C>A (p.Ile1917=)
c.5601C>A (p.Ile1867=)
 ClinVar dbSNP
5g.128305004A>CCA360739918FBN2n.2537T>G
n.2456T>G
c.5753T>G (p.Ile1918Ser)
c.5750T>G (p.Ile1917Ser)
c.5600T>G (p.Ile1867Ser)
5g.128305004A>GCA360739920FBN2n.2537T>C
n.2456T>C
c.5753T>C (p.Ile1918Thr)
c.5750T>C (p.Ile1917Thr)
c.5600T>C (p.Ile1867Thr)
5g.128305004A>TCA360739921FBN2n.2537T>A
n.2456T>A
c.5753T>A (p.Ile1918Asn)
c.5750T>A (p.Ile1917Asn)
c.5600T>A (p.Ile1867Asn)
5g.128305005T>ACA3394604FBN2n.2536A>T
n.2455A>T
c.5752A>T (p.Ile1918Phe)
c.5749A>T (p.Ile1917Phe)
c.5599A>T (p.Ile1867Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128305005T>CCA360739924FBN2n.2536A>G
n.2455A>G
c.5752A>G (p.Ile1918Val)
c.5749A>G (p.Ile1917Val)
c.5599A>G (p.Ile1867Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128305005T>GCA360739926FBN2n.2536A>C
n.2455A>C
c.5752A>C (p.Ile1918Leu)
c.5749A>C (p.Ile1917Leu)
c.5599A>C (p.Ile1867Leu)
5g.128305005T=CA1581255398FBN2n.2536A=
n.2455A=
c.5752A= (p.Ile1918=)
c.5749A= (p.Ile1917=)
c.5599A= (p.Ile1867=)
5g.128305006G>ACA446306371FBN2n.2535C>T
n.2454C>T
c.5751C>T (p.Cys1917=)
c.5748C>T (p.Cys1916=)
c.5598C>T (p.Cys1866=)
5g.128305006G>CCA360739928FBN2n.2535C>G
n.2454C>G
c.5751C>G (p.Cys1917Trp)
c.5748C>G (p.Cys1916Trp)
c.5598C>G (p.Cys1866Trp)
5g.128305006G>TCA360739930FBN2n.2535C>A
n.2454C>A
c.5751C>A (p.Cys1917Ter)
c.5748C>A (p.Cys1916Ter)
c.5598C>A (p.Cys1866Ter)
5g.128305007C>ACA360739933FBN2n.2534G>T
n.2453G>T
c.5750G>T (p.Cys1917Phe)
c.5747G>T (p.Cys1916Phe)
c.5597G>T (p.Cys1866Phe)
5g.128305007C>GCA360739934FBN2n.2534G>C
n.2453G>C
c.5750G>C (p.Cys1917Ser)
c.5747G>C (p.Cys1916Ser)
c.5597G>C (p.Cys1866Ser)
5g.128305007C>TCA360739936FBN2n.2534G>A
n.2453G>A
c.5750G>A (p.Cys1917Tyr)
c.5747G>A (p.Cys1916Tyr)
c.5597G>A (p.Cys1866Tyr)
 ClinVar gnomAD v4
5g.128305008A>CCA360739939FBN2n.2533T>G
n.2452T>G
c.5749T>G (p.Cys1917Gly)
c.5746T>G (p.Cys1916Gly)
c.5596T>G (p.Cys1866Gly)
5g.128305008A>GCA360739940FBN2n.2533T>C
n.2452T>C
c.5749T>C (p.Cys1917Arg)
c.5746T>C (p.Cys1916Arg)
c.5596T>C (p.Cys1866Arg)
5g.128305008A>TCA360739942FBN2n.2533T>A
n.2452T>A
c.5749T>A (p.Cys1917Ser)
c.5746T>A (p.Cys1916Ser)
c.5596T>A (p.Cys1866Ser)
5g.128305009C>ACA360739945FBN2n.2532G>T
n.2451G>T
c.5748G>T (p.Gln1916His)
c.5745G>T (p.Gln1915His)
c.5595G>T (p.Gln1865His)
5g.128305009C>GCA360739946FBN2n.2532G>C
n.2451G>C
c.5748G>C (p.Gln1916His)
c.5745G>C (p.Gln1915His)
c.5595G>C (p.Gln1865His)
5g.128305009C>TCA446306372FBN2n.2532G>A
n.2451G>A
c.5748G>A (p.Gln1916=)
c.5745G>A (p.Gln1915=)
c.5595G>A (p.Gln1865=)
5g.128305010T>ACA360739949FBN2n.2531A>T
n.2450A>T
c.5747A>T (p.Gln1916Leu)
c.5744A>T (p.Gln1915Leu)
c.5594A>T (p.Gln1865Leu)
5g.128305010T>CCA360739950FBN2n.2531A>G
n.2450A>G
c.5747A>G (p.Gln1916Arg)
c.5744A>G (p.Gln1915Arg)
c.5594A>G (p.Gln1865Arg)
5g.128305010T>GCA360739952FBN2n.2531A>C
n.2450A>C
c.5747A>C (p.Gln1916Pro)
c.5744A>C (p.Gln1915Pro)
c.5594A>C (p.Gln1865Pro)
5g.128305011G>ACA360739958FBN2n.2530C>T
n.2449C>T
c.5746C>T (p.Gln1916Ter)
c.5743C>T (p.Gln1915Ter)
c.5593C>T (p.Gln1865Ter)
5g.128305011G>CCA360739957FBN2n.2530C>G
n.2449C>G
c.5746C>G (p.Gln1916Glu)
c.5743C>G (p.Gln1915Glu)
c.5593C>G (p.Gln1865Glu)
5g.128305011G>TCA360739954FBN2n.2530C>A
n.2449C>A
c.5746C>A (p.Gln1916Lys)
c.5743C>A (p.Gln1915Lys)
c.5593C>A (p.Gln1865Lys)
5g.128305012G>ACA446306373FBN2n.2529C>T
n.2448C>T
c.5745C>T (p.Tyr1915=)
c.5742C>T (p.Tyr1914=)
c.5592C>T (p.Tyr1864=)
 ClinVar COSMIC COSMIC
5g.128305012G>CCA360739959FBN2n.2529C>G
n.2448C>G
c.5745C>G (p.Tyr1915Ter)
c.5742C>G (p.Tyr1914Ter)
c.5592C>G (p.Tyr1864Ter)
5g.128305012G>TCA360739960FBN2n.2529C>A
n.2448C>A
c.5745C>A (p.Tyr1915Ter)
c.5742C>A (p.Tyr1914Ter)
c.5592C>A (p.Tyr1864Ter)
5g.128305013T>ACA126983124FBN2n.2528A>T
n.2447A>T
c.5744A>T (p.Tyr1915Phe)
c.5741A>T (p.Tyr1914Phe)
c.5591A>T (p.Tyr1864Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128305013T>CCA360739961FBN2n.2528A>G
n.2447A>G
c.5744A>G (p.Tyr1915Cys)
c.5741A>G (p.Tyr1914Cys)
c.5591A>G (p.Tyr1864Cys)
5g.128305013T>GCA360739962FBN2n.2528A>C
n.2447A>C
c.5744A>C (p.Tyr1915Ser)
c.5741A>C (p.Tyr1914Ser)
c.5591A>C (p.Tyr1864Ser)
5g.128305013T=CA1581255399FBN2n.2528A=
n.2447A=
c.5744A= (p.Tyr1915=)
c.5741A= (p.Tyr1914=)
c.5591A= (p.Tyr1864=)
5g.128305014A>CCA360739963FBN2n.2527T>G
n.2446T>G
c.5743T>G (p.Tyr1915Asp)
c.5740T>G (p.Tyr1914Asp)
c.5590T>G (p.Tyr1864Asp)
5g.128305014A>GCA360739964FBN2n.2527T>C
n.2446T>C
c.5743T>C (p.Tyr1915His)
c.5740T>C (p.Tyr1914His)
c.5590T>C (p.Tyr1864His)
5g.128305014A>TCA360739965FBN2n.2527T>A
n.2446T>A
c.5743T>A (p.Tyr1915Asn)
c.5740T>A (p.Tyr1914Asn)
c.5590T>A (p.Tyr1864Asn)
5g.128305015A>CCA360739966FBN2n.2526T>G
n.2445T>G
c.5742T>G (p.Ser1914Arg)
c.5739T>G (p.Ser1913Arg)
c.5589T>G (p.Ser1863Arg)
5g.128305015A>GCA446306374FBN2n.2526T>C
n.2445T>C
c.5742T>C (p.Ser1914=)
c.5739T>C (p.Ser1913=)
c.5589T>C (p.Ser1863=)
5g.128305015A>TCA360739967FBN2n.2526T>A
n.2445T>A
c.5742T>A (p.Ser1914Arg)
c.5739T>A (p.Ser1913Arg)
c.5589T>A (p.Ser1863Arg)
5g.128305016C>ACA360739968FBN2n.2525G>T
n.2444G>T
c.5741G>T (p.Ser1914Ile)
c.5738G>T (p.Ser1913Ile)
c.5588G>T (p.Ser1863Ile)
5g.128305016C=CA1581255400FBN2n.2525G=
n.2444G=
c.5741G= (p.Ser1914=)
c.5738G= (p.Ser1913=)
c.5588G= (p.Ser1863=)
5g.128305016C>GCA360739969FBN2n.2525G>C
n.2444G>C
c.5741G>C (p.Ser1914Thr)
c.5738G>C (p.Ser1913Thr)
c.5588G>C (p.Ser1863Thr)
5g.128305016C>TCA360739970FBN2n.2525G>A
n.2444G>A
c.5741G>A (p.Ser1914Asn)
c.5738G>A (p.Ser1913Asn)
c.5588G>A (p.Ser1863Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.128305017T>ACA360739972FBN2n.2524A>T
n.2443A>T
c.5740A>T (p.Ser1914Cys)
c.5737A>T (p.Ser1913Cys)
c.5587A>T (p.Ser1863Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.128305017T>CCA360739973FBN2n.2524A>G
n.2443A>G
c.5740A>G (p.Ser1914Gly)
c.5737A>G (p.Ser1913Gly)
c.5587A>G (p.Ser1863Gly)
5g.128305017T>GCA360739971FBN2n.2524A>C
n.2443A>C
c.5740A>C (p.Ser1914Arg)
c.5737A>C (p.Ser1913Arg)
c.5587A>C (p.Ser1863Arg)
5g.128305018T>ACA446306375FBN2n.2523A>T
n.2442A>T
c.5739A>T (p.Gly1913=)
c.5736A>T (p.Gly1912=)
c.5586A>T (p.Gly1862=)
5g.128305018T>CCA446306377FBN2n.2523A>G
n.2442A>G
c.5739A>G (p.Gly1913=)
c.5736A>G (p.Gly1912=)
c.5586A>G (p.Gly1862=)
5g.128305018T>GCA446306376FBN2n.2523A>C
n.2442A>C
c.5739A>C (p.Gly1913=)
c.5736A>C (p.Gly1912=)
c.5586A>C (p.Gly1862=)
5g.128305019C>ACA360739974FBN2n.2522G>T
n.2441G>T
c.5738G>T (p.Gly1913Val)
c.5735G>T (p.Gly1912Val)
c.5585G>T (p.Gly1862Val)
5g.128305019C>GCA360739976FBN2n.2522G>C
n.2441G>C
c.5738G>C (p.Gly1913Ala)
c.5735G>C (p.Gly1912Ala)
c.5585G>C (p.Gly1862Ala)
5g.128305019C>TCA360739975FBN2n.2522G>A
n.2441G>A
c.5738G>A (p.Gly1913Glu)
c.5735G>A (p.Gly1912Glu)
c.5585G>A (p.Gly1862Glu)
 gnomAD v4
5g.128305020C>ACA360739977FBN2n.2521G>T
n.2440G>T
c.5737G>T (p.Gly1913Ter)
c.5734G>T (p.Gly1912Ter)
c.5584G>T (p.Gly1862Ter)
5g.128305020C>GCA360739978FBN2n.2521G>C
n.2440G>C
c.5737G>C (p.Gly1913Arg)
c.5734G>C (p.Gly1912Arg)
c.5584G>C (p.Gly1862Arg)
5g.128305020C>TCA360739979FBN2n.2521G>A
n.2440G>A
c.5737G>A (p.Gly1913Arg)
c.5734G>A (p.Gly1912Arg)
c.5584G>A (p.Gly1862Arg)
5g.128305021T>ACA360739980FBN2n.2520A>T
n.2439A>T
c.5736A>T (p.Gln1912His)
c.5733A>T (p.Gln1911His)
c.5583A>T (p.Gln1861His)
5g.128305021T>CCA3394605FBN2n.2520A>G
n.2439A>G
c.5736A>G (p.Gln1912=)
c.5733A>G (p.Gln1911=)
c.5583A>G (p.Gln1861=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128305021T>GCA360739981FBN2n.2520A>C
n.2439A>C
c.5736A>C (p.Gln1912His)
c.5733A>C (p.Gln1911His)
c.5583A>C (p.Gln1861His)
5g.128305021T=CA1581255401FBN2n.2520A=
n.2439A=
c.5736A= (p.Gln1912=)
c.5733A= (p.Gln1911=)
c.5583A= (p.Gln1861=)

Number of alleles fetched