Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128300806G>ACA562717113FBN2n.2950+11C>T
n.2869+11C>T
c.6166+11C>T (n.6166+11C>T)
c.6163+11C>T (n.6163+11C>T)
c.6013+11C>T (n.6013+11C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128300806G=CA1581253445FBN2n.2950+11C=
n.2869+11C=
c.6166+11C= (n.6166+11C=)
c.6163+11C= (n.6163+11C=)
c.6013+11C= (n.6013+11C=)
5g.128300808_128300809dupCA2578395893FBN2n.2950+8_2950+9dup
n.2869+8_2869+9dup
c.6166+8_6166+9dup (n.6166+8_6166+9dup)
c.6163+8_6163+9dup (n.6163+8_6163+9dup)
c.6013+8_6013+9dup (n.6013+8_6013+9dup)
5g.128300809A=CA1581253446FBN2n.2950+8T=
n.2869+8T=
c.6166+8T= (n.6166+8T=)
c.6163+8T= (n.6163+8T=)
c.6013+8T= (n.6013+8T=)
5g.128300809A>GCA562717114FBN2n.2950+8T>C
n.2869+8T>C
c.6166+8T>C (n.6166+8T>C)
c.6163+8T>C (n.6163+8T>C)
c.6013+8T>C (n.6013+8T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128300810C=CA1581253447FBN2n.2950+7G=
n.2869+7G=
c.6166+7G= (n.6166+7G=)
c.6163+7G= (n.6163+7G=)
c.6013+7G= (n.6013+7G=)
5g.128300810C>TCA562717115FBN2n.2950+7G>A
n.2869+7G>A
c.6166+7G>A (n.6166+7G>A)
c.6163+7G>A (n.6163+7G>A)
c.6013+7G>A (n.6013+7G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.128300811T>CCA2675114093FBN2n.2950+6A>G
n.2869+6A>G
c.6166+6A>G (n.6166+6A>G)
c.6163+6A>G (n.6163+6A>G)
c.6013+6A>G (n.6013+6A>G)
 gnomAD v4
5g.128300812C=CA1581253448FBN2n.2950+5G=
n.2869+5G=
c.6166+5G= (n.6166+5G=)
c.6163+5G= (n.6163+5G=)
c.6013+5G= (n.6013+5G=)
5g.128300812C>TCA3394491FBN2n.2950+5G>A
n.2869+5G>A
c.6166+5G>A (n.6166+5G>A)
c.6163+5G>A (n.6163+5G>A)
c.6013+5G>A (n.6013+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128300813T>CCA1081357901FBN2n.2950+4A>G
n.2869+4A>G
c.6166+4A>G (n.6166+4A>G)
c.6163+4A>G (n.6163+4A>G)
c.6013+4A>G (n.6013+4A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128300813T=CA1581253449FBN2n.2950+4A=
n.2869+4A=
c.6166+4A= (n.6166+4A=)
c.6163+4A= (n.6163+4A=)
c.6013+4A= (n.6013+4A=)
5g.128300814T>CCA127043141FBN2n.2950+3A>G
n.2869+3A>G
c.6166+3A>G (n.6166+3A>G)
c.6163+3A>G (n.6163+3A>G)
c.6013+3A>G (n.6013+3A>G)
 dbSNP
5g.128300814T=CA1581253450FBN2n.2950+3A=
n.2869+3A=
c.6166+3A= (n.6166+3A=)
c.6163+3A= (n.6163+3A=)
c.6013+3A= (n.6013+3A=)
5g.128300815A>CCA360766128FBN2n.2950+2T>G
n.2869+2T>G
c.6166+2T>G (n.6166+2T>G)
c.6163+2T>G (n.6163+2T>G)
c.6013+2T>G (n.6013+2T>G)
5g.128300815A>GCA360766130FBN2n.2950+2T>C
n.2869+2T>C
c.6166+2T>C (n.6166+2T>C)
c.6163+2T>C (n.6163+2T>C)
c.6013+2T>C (n.6013+2T>C)
5g.128300815A>TCA360766132FBN2n.2950+2T>A
n.2869+2T>A
c.6166+2T>A (n.6166+2T>A)
c.6163+2T>A (n.6163+2T>A)
c.6013+2T>A (n.6013+2T>A)
5g.128300816C>ACA360766134FBN2n.2950+1G>T
n.2869+1G>T
c.6166+1G>T (n.6166+1G>T)
c.6163+1G>T (n.6163+1G>T)
c.6013+1G>T (n.6013+1G>T)
5g.128300816C>GCA360766136FBN2n.2950+1G>C
n.2869+1G>C
c.6166+1G>C (n.6166+1G>C)
c.6163+1G>C (n.6163+1G>C)
c.6013+1G>C (n.6013+1G>C)
5g.128300816C>TCA360766137FBN2n.2950+1G>A
n.2869+1G>A
c.6166+1G>A (n.6166+1G>A)
c.6163+1G>A (n.6163+1G>A)
c.6013+1G>A (n.6013+1G>A)
5g.128300817C>ACA360766142FBN2n.2950G>T
n.2869G>T
c.6166G>T (p.Asp2056Tyr)
c.6163G>T (p.Asp2055Tyr)
c.6013G>T (p.Asp2005Tyr)
5g.128300817C>GCA360766138FBN2n.2950G>C
n.2869G>C
c.6166G>C (p.Asp2056His)
c.6163G>C (p.Asp2055His)
c.6013G>C (p.Asp2005His)
5g.128300817C>TCA360766140FBN2n.2950G>A
n.2869G>A
c.6166G>A (p.Asp2056Asn)
c.6163G>A (p.Asp2055Asn)
c.6013G>A (p.Asp2005Asn)
5g.128300818A=CA1581253451FBN2n.2949T=
n.2868T=
c.6165T= (p.Ile2055=)
c.6162T= (p.Ile2054=)
c.6012T= (p.Ile2004=)
5g.128300818A>CCA360766143FBN2n.2949T>G
n.2868T>G
c.6165T>G (p.Ile2055Met)
c.6162T>G (p.Ile2054Met)
c.6012T>G (p.Ile2004Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128300818A>GCA446309186FBN2n.2949T>C
n.2868T>C
c.6165T>C (p.Ile2055=)
c.6162T>C (p.Ile2054=)
c.6012T>C (p.Ile2004=)
5g.128300818A>TCA446309187FBN2n.2949T>A
n.2868T>A
c.6165T>A (p.Ile2055=)
c.6162T>A (p.Ile2054=)
c.6012T>A (p.Ile2004=)
5g.128300819A>CCA360766144FBN2n.2948T>G
n.2867T>G
c.6164T>G (p.Ile2055Ser)
c.6161T>G (p.Ile2054Ser)
c.6011T>G (p.Ile2004Ser)
5g.128300819A>GCA360766146FBN2n.2948T>C
n.2867T>C
c.6164T>C (p.Ile2055Thr)
c.6161T>C (p.Ile2054Thr)
c.6011T>C (p.Ile2004Thr)
5g.128300819A>TCA360766149FBN2n.2948T>A
n.2867T>A
c.6164T>A (p.Ile2055Asn)
c.6161T>A (p.Ile2054Asn)
c.6011T>A (p.Ile2004Asn)
5g.128300820T>ACA360766151FBN2n.2947A>T
n.2866A>T
c.6163A>T (p.Ile2055Phe)
c.6160A>T (p.Ile2054Phe)
c.6010A>T (p.Ile2004Phe)
5g.128300820T>CCA360766152FBN2n.2947A>G
n.2866A>G
c.6163A>G (p.Ile2055Val)
c.6160A>G (p.Ile2054Val)
c.6010A>G (p.Ile2004Val)
 dbSNP gnomAD v2 gnomAD v4
5g.128300820T>GCA360766154FBN2n.2947A>C
n.2866A>C
c.6163A>C (p.Ile2055Leu)
c.6160A>C (p.Ile2054Leu)
c.6010A>C (p.Ile2004Leu)
5g.128300820T=CA1581253452FBN2n.2947A=
n.2866A=
c.6163A= (p.Ile2055=)
c.6160A= (p.Ile2054=)
c.6010A= (p.Ile2004=)
5g.128300821G>ACA446309191FBN2n.2946C>T
n.2865C>T
c.6162C>T (p.Cys2054=)
c.6159C>T (p.Cys2053=)
c.6009C>T (p.Cys2003=)
 dbSNP gnomAD v4
5g.128300821G>CCA360766156FBN2n.2946C>G
n.2865C>G
c.6162C>G (p.Cys2054Trp)
c.6159C>G (p.Cys2053Trp)
c.6009C>G (p.Cys2003Trp)
5g.128300821G=CA1581253453FBN2n.2946C=
n.2865C=
c.6162C= (p.Cys2054=)
c.6159C= (p.Cys2053=)
c.6009C= (p.Cys2003=)
5g.128300821G>TCA360766158FBN2n.2946C>A
n.2865C>A
c.6162C>A (p.Cys2054Ter)
c.6159C>A (p.Cys2053Ter)
c.6009C>A (p.Cys2003Ter)
5g.128300822C>ACA360766160FBN2n.2945G>T
n.2864G>T
c.6161G>T (p.Cys2054Phe)
c.6158G>T (p.Cys2053Phe)
c.6008G>T (p.Cys2003Phe)
5g.128300822C>GCA360766161FBN2n.2945G>C
n.2864G>C
c.6161G>C (p.Cys2054Ser)
c.6158G>C (p.Cys2053Ser)
c.6008G>C (p.Cys2003Ser)
5g.128300822C>TCA360766162FBN2n.2945G>A
n.2864G>A
c.6161G>A (p.Cys2054Tyr)
c.6158G>A (p.Cys2053Tyr)
c.6008G>A (p.Cys2003Tyr)
5g.128300823A>CCA360766165FBN2n.2944T>G
n.2863T>G
c.6160T>G (p.Cys2054Gly)
c.6157T>G (p.Cys2053Gly)
c.6007T>G (p.Cys2003Gly)
5g.128300823A>GCA360766168FBN2n.2944T>C
n.2863T>C
c.6160T>C (p.Cys2054Arg)
c.6157T>C (p.Cys2053Arg)
c.6007T>C (p.Cys2003Arg)
5g.128300823A>TCA360766167FBN2n.2944T>A
n.2863T>A
c.6160T>A (p.Cys2054Ser)
c.6157T>A (p.Cys2053Ser)
c.6007T>A (p.Cys2003Ser)
 ClinVar
5g.128300824G>ACA446309193FBN2n.2943C>T
n.2862C>T
c.6159C>T (p.Asn2053=)
c.6156C>T (p.Asn2052=)
c.6006C>T (p.Asn2002=)
5g.128300824G>CCA360766171FBN2n.2943C>G
n.2862C>G
c.6159C>G (p.Asn2053Lys)
c.6156C>G (p.Asn2052Lys)
c.6006C>G (p.Asn2002Lys)
5g.128300824G>TCA360766173FBN2n.2943C>A
n.2862C>A
c.6159C>A (p.Asn2053Lys)
c.6156C>A (p.Asn2052Lys)
c.6006C>A (p.Asn2002Lys)
5g.128300825T>ACA360766176FBN2n.2942A>T
n.2861A>T
c.6158A>T (p.Asn2053Ile)
c.6155A>T (p.Asn2052Ile)
c.6005A>T (p.Asn2002Ile)
5g.128300825T>CCA360766178FBN2n.2942A>G
n.2861A>G
c.6158A>G (p.Asn2053Ser)
c.6155A>G (p.Asn2052Ser)
c.6005A>G (p.Asn2002Ser)
 gnomAD v4
5g.128300825T>GCA360766180FBN2n.2942A>C
n.2861A>C
c.6158A>C (p.Asn2053Thr)
c.6155A>C (p.Asn2052Thr)
c.6005A>C (p.Asn2002Thr)

Number of alleles fetched