Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128335103_128335119delinsTTGTGTGTGCATGTGGGCA1581269429FBN2n.757+51_757+67delinsCCCACATGCACACACAA
n.838+51_838+67delinsCCCACATGCACACACAA
c.3973+51_3973+67delinsCCCACATGCACACACAA (n.3973+51_3973+67delinsCCCACATGCACACACAA)
c.523+51_523+67delinsCCCACATGCACACACAA (n.523+51_523+67delinsCCCACATGCACACACAA)
c.3874+51_3874+67delinsCCCACATGCACACACAA (n.3874+51_3874+67delinsCCCACATGCACACACAA)
c.3970+51_3970+67delinsCCCACATGCACACACAA (n.3970+51_3970+67delinsCCCACATGCACACACAA)
c.3820+51_3820+67delinsCCCACATGCACACACAA (n.3820+51_3820+67delinsCCCACATGCACACACAA)
5g.128335118_128335133dupCA2675117043FBN2n.757+51_757+66dup
n.838+51_838+66dup
c.3973+51_3973+66dup (n.3973+51_3973+66dup)
c.523+51_523+66dup (n.523+51_523+66dup)
c.3874+51_3874+66dup (n.3874+51_3874+66dup)
c.3970+51_3970+66dup (n.3970+51_3970+66dup)
c.3820+51_3820+66dup (n.3820+51_3820+66dup)
 gnomAD v4
5g.128335118_128335133delCA563056225FBN2n.757+51_757+66del
n.838+51_838+66del
c.3973+51_3973+66del (n.3973+51_3973+66del)
c.523+51_523+66del (n.523+51_523+66del)
c.3874+51_3874+66del (n.3874+51_3874+66del)
c.3970+51_3970+66del (n.3970+51_3970+66del)
c.3820+51_3820+66del (n.3820+51_3820+66del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335112_128335113delCA2768335842FBN2n.757+57_757+58del
n.838+57_838+58del
c.3973+57_3973+58del (n.3973+57_3973+58del)
c.523+57_523+58del (n.523+57_523+58del)
c.3874+57_3874+58del (n.3874+57_3874+58del)
c.3970+57_3970+58del (n.3970+57_3970+58del)
c.3820+57_3820+58del (n.3820+57_3820+58del)
5g.128335114T>CCA127008372FBN2n.757+56A>G
n.838+56A>G
c.3973+56A>G (n.3973+56A>G)
c.523+56A>G (n.523+56A>G)
c.3874+56A>G (n.3874+56A>G)
c.3970+56A>G (n.3970+56A>G)
c.3820+56A>G (n.3820+56A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335114T>GCA2675117047FBN2n.757+56A>C
n.838+56A>C
c.3973+56A>C (n.3973+56A>C)
c.523+56A>C (n.523+56A>C)
c.3874+56A>C (n.3874+56A>C)
c.3970+56A>C (n.3970+56A>C)
c.3820+56A>C (n.3820+56A>C)
 gnomAD v4
5g.128335114T=CA1581269434FBN2n.757+56A=
n.838+56A=
c.3973+56A= (n.3973+56A=)
c.523+56A= (n.523+56A=)
c.3874+56A= (n.3874+56A=)
c.3970+56A= (n.3970+56A=)
c.3820+56A= (n.3820+56A=)
5g.128335115G>ACA2675117048FBN2n.757+55C>T
n.838+55C>T
c.3973+55C>T (n.3973+55C>T)
c.523+55C>T (n.523+55C>T)
c.3874+55C>T (n.3874+55C>T)
c.3970+55C>T (n.3970+55C>T)
c.3820+55C>T (n.3820+55C>T)
 gnomAD v4
5g.128335116T>ACA2675117050FBN2n.757+54A>T
n.838+54A>T
c.3973+54A>T (n.3973+54A>T)
c.523+54A>T (n.523+54A>T)
c.3874+54A>T (n.3874+54A>T)
c.3970+54A>T (n.3970+54A>T)
c.3820+54A>T (n.3820+54A>T)
 gnomAD v4
5g.128335116T>CCA2768335843FBN2n.757+54A>G
n.838+54A>G
c.3973+54A>G (n.3973+54A>G)
c.523+54A>G (n.523+54A>G)
c.3874+54A>G (n.3874+54A>G)
c.3970+54A>G (n.3970+54A>G)
c.3820+54A>G (n.3820+54A>G)
5g.128335116T>GCA2675117049FBN2n.757+54A>C
n.838+54A>C
c.3973+54A>C (n.3973+54A>C)
c.523+54A>C (n.523+54A>C)
c.3874+54A>C (n.3874+54A>C)
c.3970+54A>C (n.3970+54A>C)
c.3820+54A>C (n.3820+54A>C)
 gnomAD v4
5g.128335117G>ACA2675117052FBN2n.757+53C>T
n.838+53C>T
c.3973+53C>T (n.3973+53C>T)
c.523+53C>T (n.523+53C>T)
c.3874+53C>T (n.3874+53C>T)
c.3970+53C>T (n.3970+53C>T)
c.3820+53C>T (n.3820+53C>T)
 gnomAD v4
5g.128335117G>TCA2578396307FBN2n.757+53C>A
n.838+53C>A
c.3973+53C>A (n.3973+53C>A)
c.523+53C>A (n.523+53C>A)
c.3874+53C>A (n.3874+53C>A)
c.3970+53C>A (n.3970+53C>A)
c.3820+53C>A (n.3820+53C>A)
 gnomAD v4
5g.128335119delCA2675117051FBN2n.757+53del
n.838+53del
c.3973+53del (n.3973+53del)
c.523+53del (n.523+53del)
c.3874+53del (n.3874+53del)
c.3970+53del (n.3970+53del)
c.3820+53del (n.3820+53del)
 gnomAD v4
5g.128335118G>ACA2581503194FBN2n.757+52C>T
n.838+52C>T
c.3973+52C>T (n.3973+52C>T)
c.523+52C>T (n.523+52C>T)
c.3874+52C>T (n.3874+52C>T)
c.3970+52C>T (n.3970+52C>T)
c.3820+52C>T (n.3820+52C>T)
5g.128335118G>CCA12063098FBN2n.757+52C>G
n.838+52C>G
c.3973+52C>G (n.3973+52C>G)
c.523+52C>G (n.523+52C>G)
c.3874+52C>G (n.3874+52C>G)
c.3970+52C>G (n.3970+52C>G)
c.3820+52C>G (n.3820+52C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335118G=CA1581269435FBN2n.757+52C=
n.838+52C=
c.3973+52C= (n.3973+52C=)
c.523+52C= (n.523+52C=)
c.3874+52C= (n.3874+52C=)
c.3970+52C= (n.3970+52C=)
c.3820+52C= (n.3820+52C=)
5g.128335118G>TCA1581269437FBN2n.757+52C>A
n.838+52C>A
c.3973+52C>A (n.3973+52C>A)
c.523+52C>A (n.523+52C>A)
c.3874+52C>A (n.3874+52C>A)
c.3970+52C>A (n.3970+52C>A)
c.3820+52C>A (n.3820+52C>A)
 dbSNP gnomAD v4
5g.128335118_128335134delinsGGTGTGTGTGCATGTGTCA1581269436FBN2n.757+36_757+52delinsACACATGCACACACACC
n.838+36_838+52delinsACACATGCACACACACC
c.3973+36_3973+52delinsACACATGCACACACACC (n.3973+36_3973+52delinsACACATGCACACACACC)
c.523+36_523+52delinsACACATGCACACACACC (n.523+36_523+52delinsACACATGCACACACACC)
c.3874+36_3874+52delinsACACATGCACACACACC (n.3874+36_3874+52delinsACACATGCACACACACC)
c.3970+36_3970+52delinsACACATGCACACACACC (n.3970+36_3970+52delinsACACATGCACACACACC)
c.3820+36_3820+52delinsACACATGCACACACACC (n.3820+36_3820+52delinsACACATGCACACACACC)
5g.128335119G>ACA2675117055FBN2n.757+51C>T
n.838+51C>T
c.3973+51C>T (n.3973+51C>T)
c.523+51C>T (n.523+51C>T)
c.3874+51C>T (n.3874+51C>T)
c.3970+51C>T (n.3970+51C>T)
c.3820+51C>T (n.3820+51C>T)
 gnomAD v4
5g.128335126_128335127dupCA2675117053FBN2n.757+50_757+51dup
n.838+50_838+51dup
c.3973+50_3973+51dup (n.3973+50_3973+51dup)
c.523+50_523+51dup (n.523+50_523+51dup)
c.3874+50_3874+51dup (n.3874+50_3874+51dup)
c.3970+50_3970+51dup (n.3970+50_3970+51dup)
c.3820+50_3820+51dup (n.3820+50_3820+51dup)
 gnomAD v4
5g.128335126_128335127delCA2675117054FBN2n.757+50_757+51del
n.838+50_838+51del
c.3973+50_3973+51del (n.3973+50_3973+51del)
c.523+50_523+51del (n.523+50_523+51del)
c.3874+50_3874+51del (n.3874+50_3874+51del)
c.3970+50_3970+51del (n.3970+50_3970+51del)
c.3820+50_3820+51del (n.3820+50_3820+51del)
 gnomAD v4
5g.128335123_128335138delCA1081364474FBN2n.757+36_757+51del
n.838+36_838+51del
c.3973+36_3973+51del (n.3973+36_3973+51del)
c.523+36_523+51del (n.523+36_523+51del)
c.3874+36_3874+51del (n.3874+36_3874+51del)
c.3970+36_3970+51del (n.3970+36_3970+51del)
c.3820+36_3820+51del (n.3820+36_3820+51del)
 dbSNP gnomAD v4
5g.128335119_128335120insGTCA650271435FBN2n.757+50_757+51insAC
n.838+50_838+51insAC
c.3973+50_3973+51insAC (n.3973+50_3973+51insAC)
c.523+50_523+51insAC (n.523+50_523+51insAC)
c.3874+50_3874+51insAC (n.3874+50_3874+51insAC)
c.3970+50_3970+51insAC (n.3970+50_3970+51insAC)
c.3820+50_3820+51insAC (n.3820+50_3820+51insAC)
 COSMIC
5g.128335120T>ACA3395085FBN2n.757+50A>T
n.838+50A>T
c.3973+50A>T (n.3973+50A>T)
c.523+50A>T (n.523+50A>T)
c.3874+50A>T (n.3874+50A>T)
c.3970+50A>T (n.3970+50A>T)
c.3820+50A>T (n.3820+50A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335120T>CCA2675117056FBN2n.757+50A>G
n.838+50A>G
c.3973+50A>G (n.3973+50A>G)
c.523+50A>G (n.523+50A>G)
c.3874+50A>G (n.3874+50A>G)
c.3970+50A>G (n.3970+50A>G)
c.3820+50A>G (n.3820+50A>G)
 gnomAD v4
5g.128335120T=CA1581269438FBN2n.757+50A=
n.838+50A=
c.3973+50A= (n.3973+50A=)
c.523+50A= (n.523+50A=)
c.3874+50A= (n.3874+50A=)
c.3970+50A= (n.3970+50A=)
c.3820+50A= (n.3820+50A=)
5g.128335121G>ACA2675117057FBN2n.757+49C>T
n.838+49C>T
c.3973+49C>T (n.3973+49C>T)
c.523+49C>T (n.523+49C>T)
c.3874+49C>T (n.3874+49C>T)
c.3970+49C>T (n.3970+49C>T)
c.3820+49C>T (n.3820+49C>T)
 gnomAD v4
5g.128335122T>CCA2675117058FBN2n.757+48A>G
n.838+48A>G
c.3973+48A>G (n.3973+48A>G)
c.523+48A>G (n.523+48A>G)
c.3874+48A>G (n.3874+48A>G)
c.3970+48A>G (n.3970+48A>G)
c.3820+48A>G (n.3820+48A>G)
 gnomAD v4
5g.128335122T>GCA1581269440FBN2n.757+48A>C
n.838+48A>C
c.3973+48A>C (n.3973+48A>C)
c.523+48A>C (n.523+48A>C)
c.3874+48A>C (n.3874+48A>C)
c.3970+48A>C (n.3970+48A>C)
c.3820+48A>C (n.3820+48A>C)
 dbSNP gnomAD v4
5g.128335122T=CA1581269439FBN2n.757+48A=
n.838+48A=
c.3973+48A= (n.3973+48A=)
c.523+48A= (n.523+48A=)
c.3874+48A= (n.3874+48A=)
c.3970+48A= (n.3970+48A=)
c.3820+48A= (n.3820+48A=)
5g.128335125G>ACA2578396308FBN2n.757+45C>T
n.838+45C>T
c.3973+45C>T (n.3973+45C>T)
c.523+45C>T (n.523+45C>T)
c.3874+45C>T (n.3874+45C>T)
c.3970+45C>T (n.3970+45C>T)
c.3820+45C>T (n.3820+45C>T)
5g.128335125G>CCA1581269442FBN2n.757+45C>G
n.838+45C>G
c.3973+45C>G (n.3973+45C>G)
c.523+45C>G (n.523+45C>G)
c.3874+45C>G (n.3874+45C>G)
c.3970+45C>G (n.3970+45C>G)
c.3820+45C>G (n.3820+45C>G)
 dbSNP gnomAD v4
5g.128335125G=CA1581269441FBN2n.757+45C=
n.838+45C=
c.3973+45C= (n.3973+45C=)
c.523+45C= (n.523+45C=)
c.3874+45C= (n.3874+45C=)
c.3970+45C= (n.3970+45C=)
c.3820+45C= (n.3820+45C=)
5g.128335126T>CCA803636506FBN2n.757+44A>G
n.838+44A>G
c.3973+44A>G (n.3973+44A>G)
c.523+44A>G (n.523+44A>G)
c.3874+44A>G (n.3874+44A>G)
c.3970+44A>G (n.3970+44A>G)
c.3820+44A>G (n.3820+44A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128335126T=CA1581269443FBN2n.757+44A=
n.838+44A=
c.3973+44A= (n.3973+44A=)
c.523+44A= (n.523+44A=)
c.3874+44A= (n.3874+44A=)
c.3970+44A= (n.3970+44A=)
c.3820+44A= (n.3820+44A=)
5g.128335126dupCA3395086FBN2n.757+44dup
n.838+44dup
c.3973+44dup (n.3973+44dup)
c.523+44dup (n.523+44dup)
c.3874+44dup (n.3874+44dup)
c.3970+44dup (n.3970+44dup)
c.3820+44dup (n.3820+44dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335127G>CCA3395087FBN2n.757+43C>G
n.838+43C>G
c.3973+43C>G (n.3973+43C>G)
c.523+43C>G (n.523+43C>G)
c.3874+43C>G (n.3874+43C>G)
c.3970+43C>G (n.3970+43C>G)
c.3820+43C>G (n.3820+43C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335127G=CA1581269444FBN2n.757+43C=
n.838+43C=
c.3973+43C= (n.3973+43C=)
c.523+43C= (n.523+43C=)
c.3874+43C= (n.3874+43C=)
c.3970+43C= (n.3970+43C=)
c.3820+43C= (n.3820+43C=)
5g.128335127G>TCA2675117059FBN2n.757+43C>A
n.838+43C>A
c.3973+43C>A (n.3973+43C>A)
c.523+43C>A (n.523+43C>A)
c.3874+43C>A (n.3874+43C>A)
c.3970+43C>A (n.3970+43C>A)
c.3820+43C>A (n.3820+43C>A)
 gnomAD v4
5g.128335128C=CA1581269445FBN2n.757+42G=
n.838+42G=
c.3973+42G= (n.3973+42G=)
c.523+42G= (n.523+42G=)
c.3874+42G= (n.3874+42G=)
c.3970+42G= (n.3970+42G=)
c.3820+42G= (n.3820+42G=)
5g.128335128C>TCA3395088FBN2n.757+42G>A
n.838+42G>A
c.3973+42G>A (n.3973+42G>A)
c.523+42G>A (n.523+42G>A)
c.3874+42G>A (n.3874+42G>A)
c.3970+42G>A (n.3970+42G>A)
c.3820+42G>A (n.3820+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335128_128335132delinsCATGTCA1581269446FBN2n.757+38_757+42delinsACATG
n.838+38_838+42delinsACATG
c.3973+38_3973+42delinsACATG (n.3973+38_3973+42delinsACATG)
c.523+38_523+42delinsACATG (n.523+38_523+42delinsACATG)
c.3874+38_3874+42delinsACATG (n.3874+38_3874+42delinsACATG)
c.3970+38_3970+42delinsACATG (n.3970+38_3970+42delinsACATG)
c.3820+38_3820+42delinsACATG (n.3820+38_3820+42delinsACATG)
5g.128335129A>GCA2768335844FBN2n.757+41T>C
n.838+41T>C
c.3973+41T>C (n.3973+41T>C)
c.523+41T>C (n.523+41T>C)
c.3874+41T>C (n.3874+41T>C)
c.3970+41T>C (n.3970+41T>C)
c.3820+41T>C (n.3820+41T>C)
5g.128335129_128335130delCA2675117060FBN2n.757+40_757+41del
n.838+40_838+41del
c.3973+40_3973+41del (n.3973+40_3973+41del)
c.523+40_523+41del (n.523+40_523+41del)
c.3874+40_3874+41del (n.3874+40_3874+41del)
c.3970+40_3970+41del (n.3970+40_3970+41del)
c.3820+40_3820+41del (n.3820+40_3820+41del)
 gnomAD v4
5g.128335129_128335132delCA3395089FBN2n.757+38_757+41del
n.838+38_838+41del
c.3973+38_3973+41del (n.3973+38_3973+41del)
c.523+38_523+41del (n.523+38_523+41del)
c.3874+38_3874+41del (n.3874+38_3874+41del)
c.3970+38_3970+41del (n.3970+38_3970+41del)
c.3820+38_3820+41del (n.3820+38_3820+41del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335130T>CCA1581269448FBN2n.757+40A>G
n.838+40A>G
c.3973+40A>G (n.3973+40A>G)
c.523+40A>G (n.523+40A>G)
c.3874+40A>G (n.3874+40A>G)
c.3970+40A>G (n.3970+40A>G)
c.3820+40A>G (n.3820+40A>G)
 dbSNP gnomAD v4
5g.128335130T>GCA3395090FBN2n.757+40A>C
n.838+40A>C
c.3973+40A>C (n.3973+40A>C)
c.523+40A>C (n.523+40A>C)
c.3874+40A>C (n.3874+40A>C)
c.3970+40A>C (n.3970+40A>C)
c.3820+40A>C (n.3820+40A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335130T=CA1581269447FBN2n.757+40A=
n.838+40A=
c.3973+40A= (n.3973+40A=)
c.523+40A= (n.523+40A=)
c.3874+40A= (n.3874+40A=)
c.3970+40A= (n.3970+40A=)
c.3820+40A= (n.3820+40A=)
5g.128335137_128335138delCA2675117061FBN2n.757+39_757+40del
n.838+39_838+40del
c.3973+39_3973+40del (n.3973+39_3973+40del)
c.523+39_523+40del (n.523+39_523+40del)
c.3874+39_3874+40del (n.3874+39_3874+40del)
c.3970+39_3970+40del (n.3970+39_3970+40del)
c.3820+39_3820+40del (n.3820+39_3820+40del)
 gnomAD v4
5g.128335131G=CA1581269449FBN2n.757+39C=
n.838+39C=
c.3973+39C= (n.3973+39C=)
c.523+39C= (n.523+39C=)
c.3874+39C= (n.3874+39C=)
c.3970+39C= (n.3970+39C=)
c.3820+39C= (n.3820+39C=)
5g.128335131G>TCA127008386FBN2n.757+39C>A
n.838+39C>A
c.3973+39C>A (n.3973+39C>A)
c.523+39C>A (n.523+39C>A)
c.3874+39C>A (n.3874+39C>A)
c.3970+39C>A (n.3970+39C>A)
c.3820+39C>A (n.3820+39C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335133G>ACA2675117062FBN2n.757+37C>T
n.838+37C>T
c.3973+37C>T (n.3973+37C>T)
c.523+37C>T (n.523+37C>T)
c.3874+37C>T (n.3874+37C>T)
c.3970+37C>T (n.3970+37C>T)
c.3820+37C>T (n.3820+37C>T)
 gnomAD v4
5g.128335133G>CCA1581269451FBN2n.757+37C>G
n.838+37C>G
c.3973+37C>G (n.3973+37C>G)
c.523+37C>G (n.523+37C>G)
c.3874+37C>G (n.3874+37C>G)
c.3970+37C>G (n.3970+37C>G)
c.3820+37C>G (n.3820+37C>G)
 dbSNP
5g.128335133G=CA1581269450FBN2n.757+37C=
n.838+37C=
c.3973+37C= (n.3973+37C=)
c.523+37C= (n.523+37C=)
c.3874+37C= (n.3874+37C=)
c.3970+37C= (n.3970+37C=)
c.3820+37C= (n.3820+37C=)
5g.128335134T>GCA3395091FBN2n.757+36A>C
n.838+36A>C
c.3973+36A>C (n.3973+36A>C)
c.523+36A>C (n.523+36A>C)
c.3874+36A>C (n.3874+36A>C)
c.3970+36A>C (n.3970+36A>C)
c.3820+36A>C (n.3820+36A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335134T=CA1581269452FBN2n.757+36A=
n.838+36A=
c.3973+36A= (n.3973+36A=)
c.523+36A= (n.523+36A=)
c.3874+36A= (n.3874+36A=)
c.3970+36A= (n.3970+36A=)
c.3820+36A= (n.3820+36A=)
5g.128335136T>GCA2675117063FBN2n.757+34A>C
n.838+34A>C
c.3973+34A>C (n.3973+34A>C)
c.523+34A>C (n.523+34A>C)
c.3874+34A>C (n.3874+34A>C)
c.3970+34A>C (n.3970+34A>C)
c.3820+34A>C (n.3820+34A>C)
 gnomAD v4
5g.128335138T>CCA1581269454FBN2n.757+32A>G
n.838+32A>G
c.3973+32A>G (n.3973+32A>G)
c.523+32A>G (n.523+32A>G)
c.3874+32A>G (n.3874+32A>G)
c.3970+32A>G (n.3970+32A>G)
c.3820+32A>G (n.3820+32A>G)
 dbSNP
5g.128335138T=CA1581269453FBN2n.757+32A=
n.838+32A=
c.3973+32A= (n.3973+32A=)
c.523+32A= (n.523+32A=)
c.3874+32A= (n.3874+32A=)
c.3970+32A= (n.3970+32A=)
c.3820+32A= (n.3820+32A=)
5g.128335138_128335148delCA2675117064FBN2n.757+22_757+32del
n.838+22_838+32del
c.3973+22_3973+32del (n.3973+22_3973+32del)
c.523+22_523+32del (n.523+22_523+32del)
c.3874+22_3874+32del (n.3874+22_3874+32del)
c.3970+22_3970+32del (n.3970+22_3970+32del)
c.3820+22_3820+32del (n.3820+22_3820+32del)
 gnomAD v4
5g.128335140T>CCA3395092FBN2n.757+30A>G
n.838+30A>G
c.3973+30A>G (n.3973+30A>G)
c.523+30A>G (n.523+30A>G)
c.3874+30A>G (n.3874+30A>G)
c.3970+30A>G (n.3970+30A>G)
c.3820+30A>G (n.3820+30A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335140T>GCA2675117065FBN2n.757+30A>C
n.838+30A>C
c.3973+30A>C (n.3973+30A>C)
c.523+30A>C (n.523+30A>C)
c.3874+30A>C (n.3874+30A>C)
c.3970+30A>C (n.3970+30A>C)
c.3820+30A>C (n.3820+30A>C)
 gnomAD v4
5g.128335140T=CA1581269455FBN2n.757+30A=
n.838+30A=
c.3973+30A= (n.3973+30A=)
c.523+30A= (n.523+30A=)
c.3874+30A= (n.3874+30A=)
c.3970+30A= (n.3970+30A=)
c.3820+30A= (n.3820+30A=)
5g.128335143A>TCA2675117066FBN2n.757+27T>A
n.838+27T>A
c.3973+27T>A (n.3973+27T>A)
c.523+27T>A (n.523+27T>A)
c.3874+27T>A (n.3874+27T>A)
c.3970+27T>A (n.3970+27T>A)
c.3820+27T>A (n.3820+27T>A)
 gnomAD v4
5g.128335144T>CCA2675117067FBN2n.757+26A>G
n.838+26A>G
c.3973+26A>G (n.3973+26A>G)
c.523+26A>G (n.523+26A>G)
c.3874+26A>G (n.3874+26A>G)
c.3970+26A>G (n.3970+26A>G)
c.3820+26A>G (n.3820+26A>G)
 gnomAD v4
5g.128335145G>ACA2675117068FBN2n.757+25C>T
n.838+25C>T
c.3973+25C>T (n.3973+25C>T)
c.523+25C>T (n.523+25C>T)
c.3874+25C>T (n.3874+25C>T)
c.3970+25C>T (n.3970+25C>T)
c.3820+25C>T (n.3820+25C>T)
 gnomAD v4
5g.128335147T>GCA2675117069FBN2n.757+23A>C
n.838+23A>C
c.3973+23A>C (n.3973+23A>C)
c.523+23A>C (n.523+23A>C)
c.3874+23A>C (n.3874+23A>C)
c.3970+23A>C (n.3970+23A>C)
c.3820+23A>C (n.3820+23A>C)
 gnomAD v4
5g.128335148T>CCA563056227FBN2n.757+22A>G
n.838+22A>G
c.3973+22A>G (n.3973+22A>G)
c.523+22A>G (n.523+22A>G)
c.3874+22A>G (n.3874+22A>G)
c.3970+22A>G (n.3970+22A>G)
c.3820+22A>G (n.3820+22A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128335148T=CA1581269456FBN2n.757+22A=
n.838+22A=
c.3973+22A= (n.3973+22A=)
c.523+22A= (n.523+22A=)
c.3874+22A= (n.3874+22A=)
c.3970+22A= (n.3970+22A=)
c.3820+22A= (n.3820+22A=)
5g.128335149A>TCA2675117070FBN2n.757+21T>A
n.838+21T>A
c.3973+21T>A (n.3973+21T>A)
c.523+21T>A (n.523+21T>A)
c.3874+21T>A (n.3874+21T>A)
c.3970+21T>A (n.3970+21T>A)
c.3820+21T>A (n.3820+21T>A)
 gnomAD v4
5g.128335150T>CCA803636530FBN2n.757+20A>G
n.838+20A>G
c.3973+20A>G (n.3973+20A>G)
c.523+20A>G (n.523+20A>G)
c.3874+20A>G (n.3874+20A>G)
c.3970+20A>G (n.3970+20A>G)
c.3820+20A>G (n.3820+20A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.128335150T=CA1581269457FBN2n.757+20A=
n.838+20A=
c.3973+20A= (n.3973+20A=)
c.523+20A= (n.523+20A=)
c.3874+20A= (n.3874+20A=)
c.3970+20A= (n.3970+20A=)
c.3820+20A= (n.3820+20A=)
5g.128335151C=CA1581269458FBN2n.757+19G=
n.838+19G=
c.3973+19G= (n.3973+19G=)
c.523+19G= (n.523+19G=)
c.3874+19G= (n.3874+19G=)
c.3970+19G= (n.3970+19G=)
c.3820+19G= (n.3820+19G=)
5g.128335151C>TCA803636543FBN2n.757+19G>A
n.838+19G>A
c.3973+19G>A (n.3973+19G>A)
c.523+19G>A (n.523+19G>A)
c.3874+19G>A (n.3874+19G>A)
c.3970+19G>A (n.3970+19G>A)
c.3820+19G>A (n.3820+19G>A)
 dbSNP
5g.128335152C>ACA2675117071FBN2n.757+18G>T
n.838+18G>T
c.3973+18G>T (n.3973+18G>T)
c.523+18G>T (n.523+18G>T)
c.3874+18G>T (n.3874+18G>T)
c.3970+18G>T (n.3970+18G>T)
c.3820+18G>T (n.3820+18G>T)
 gnomAD v4
5g.128335153T>CCA1581269460FBN2n.757+17A>G
n.838+17A>G
c.3973+17A>G (n.3973+17A>G)
c.523+17A>G (n.523+17A>G)
c.3874+17A>G (n.3874+17A>G)
c.3970+17A>G (n.3970+17A>G)
c.3820+17A>G (n.3820+17A>G)
 ClinVar dbSNP gnomAD v4
5g.128335153T=CA1581269459FBN2n.757+17A=
n.838+17A=
c.3973+17A= (n.3973+17A=)
c.523+17A= (n.523+17A=)
c.3874+17A= (n.3874+17A=)
c.3970+17A= (n.3970+17A=)
c.3820+17A= (n.3820+17A=)
5g.128335154T>CCA2768335845FBN2n.757+16A>G
n.838+16A>G
c.3973+16A>G (n.3973+16A>G)
c.523+16A>G (n.523+16A>G)
c.3874+16A>G (n.3874+16A>G)
c.3970+16A>G (n.3970+16A>G)
c.3820+16A>G (n.3820+16A>G)
5g.128335155T>CCA3395093FBN2n.757+15A>G
n.838+15A>G
c.3973+15A>G (n.3973+15A>G)
c.523+15A>G (n.523+15A>G)
c.3874+15A>G (n.3874+15A>G)
c.3970+15A>G (n.3970+15A>G)
c.3820+15A>G (n.3820+15A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335155T=CA1581269461FBN2n.757+15A=
n.838+15A=
c.3973+15A= (n.3973+15A=)
c.523+15A= (n.523+15A=)
c.3874+15A= (n.3874+15A=)
c.3970+15A= (n.3970+15A=)
c.3820+15A= (n.3820+15A=)
5g.128335158T>GCA1581269463FBN2n.757+12A>C
n.838+12A>C
c.3973+12A>C (n.3973+12A>C)
c.523+12A>C (n.523+12A>C)
c.3874+12A>C (n.3874+12A>C)
c.3970+12A>C (n.3970+12A>C)
c.3820+12A>C (n.3820+12A>C)
 dbSNP
5g.128335158T=CA1581269464FBN2n.757+12A=
n.838+12A=
c.3973+12A= (n.3973+12A=)
c.523+12A= (n.523+12A=)
c.3874+12A= (n.3874+12A=)
c.3970+12A= (n.3970+12A=)
c.3820+12A= (n.3820+12A=)
5g.128335158_128335161delinsTATGCA1581269462FBN2n.757+9_757+12delinsCATA
n.838+9_838+12delinsCATA
c.3973+9_3973+12delinsCATA (n.3973+9_3973+12delinsCATA)
c.523+9_523+12delinsCATA (n.523+9_523+12delinsCATA)
c.3874+9_3874+12delinsCATA (n.3874+9_3874+12delinsCATA)
c.3970+9_3970+12delinsCATA (n.3970+9_3970+12delinsCATA)
c.3820+9_3820+12delinsCATA (n.3820+9_3820+12delinsCATA)
5g.128335159A=CA1581269465FBN2n.757+11T=
n.838+11T=
c.3973+11T= (n.3973+11T=)
c.523+11T= (n.523+11T=)
c.3874+11T= (n.3874+11T=)
c.3970+11T= (n.3970+11T=)
c.3820+11T= (n.3820+11T=)
5g.128335159A>GCA563056228FBN2n.757+11T>C
n.838+11T>C
c.3973+11T>C (n.3973+11T>C)
c.523+11T>C (n.523+11T>C)
c.3874+11T>C (n.3874+11T>C)
c.3970+11T>C (n.3970+11T>C)
c.3820+11T>C (n.3820+11T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128335161_128335163delCA3395094FBN2n.757+9_757+11del
n.838+9_838+11del
c.3973+9_3973+11del (n.3973+9_3973+11del)
c.523+9_523+11del (n.523+9_523+11del)
c.3874+9_3874+11del (n.3874+9_3874+11del)
c.3970+9_3970+11del (n.3970+9_3970+11del)
c.3820+9_3820+11del (n.3820+9_3820+11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335160T>CCA2675117072FBN2n.757+10A>G
n.838+10A>G
c.3973+10A>G (n.3973+10A>G)
c.523+10A>G (n.523+10A>G)
c.3874+10A>G (n.3874+10A>G)
c.3970+10A>G (n.3970+10A>G)
c.3820+10A>G (n.3820+10A>G)
 gnomAD v4
5g.128335161G>ACA803636550FBN2n.757+9C>T
n.838+9C>T
c.3973+9C>T (n.3973+9C>T)
c.523+9C>T (n.523+9C>T)
c.3874+9C>T (n.3874+9C>T)
c.3970+9C>T (n.3970+9C>T)
c.3820+9C>T (n.3820+9C>T)
 dbSNP
5g.128335161G=CA1581269466FBN2n.757+9C=
n.838+9C=
c.3973+9C= (n.3973+9C=)
c.523+9C= (n.523+9C=)
c.3874+9C= (n.3874+9C=)
c.3970+9C= (n.3970+9C=)
c.3820+9C= (n.3820+9C=)
5g.128335163T>CCA127008412FBN2n.757+7A>G
n.838+7A>G
c.3973+7A>G (n.3973+7A>G)
c.523+7A>G (n.523+7A>G)
c.3874+7A>G (n.3874+7A>G)
c.3970+7A>G (n.3970+7A>G)
c.3820+7A>G (n.3820+7A>G)
 ClinVar dbSNP gnomAD v4
5g.128335163T=CA1581269467FBN2n.757+7A=
n.838+7A=
c.3973+7A= (n.3973+7A=)
c.523+7A= (n.523+7A=)
c.3874+7A= (n.3874+7A=)
c.3970+7A= (n.3970+7A=)
c.3820+7A= (n.3820+7A=)
5g.128335164A=CA1581269468FBN2n.757+6T=
n.838+6T=
c.3973+6T= (n.3973+6T=)
c.523+6T= (n.523+6T=)
c.3874+6T= (n.3874+6T=)
c.3970+6T= (n.3970+6T=)
c.3820+6T= (n.3820+6T=)
5g.128335164A>CCA1581269469FBN2n.757+6T>G
n.838+6T>G
c.3973+6T>G (n.3973+6T>G)
c.523+6T>G (n.523+6T>G)
c.3874+6T>G (n.3874+6T>G)
c.3970+6T>G (n.3970+6T>G)
c.3820+6T>G (n.3820+6T>G)
 dbSNP
5g.128335167C>ACA2695205116FBN2n.757+3G>T
n.838+3G>T
c.3973+3G>T (n.3973+3G>T)
c.523+3G>T (n.523+3G>T)
c.3874+3G>T (n.3874+3G>T)
c.3970+3G>T (n.3970+3G>T)
c.3820+3G>T (n.3820+3G>T)
5g.128335167C=CA1581269470FBN2n.757+3G=
n.838+3G=
c.3973+3G= (n.3973+3G=)
c.523+3G= (n.523+3G=)
c.3874+3G= (n.3874+3G=)
c.3970+3G= (n.3970+3G=)
c.3820+3G= (n.3820+3G=)
5g.128335167C>GCA645546435FBN2n.757+3G>C
n.838+3G>C
c.3973+3G>C (n.3973+3G>C)
c.523+3G>C (n.523+3G>C)
c.3874+3G>C (n.3874+3G>C)
c.3970+3G>C (n.3970+3G>C)
c.3820+3G>C (n.3820+3G>C)
 COSMIC COSMIC
5g.128335167C>TCA563056229FBN2n.757+3G>A
n.838+3G>A
c.3973+3G>A (n.3973+3G>A)
c.523+3G>A (n.523+3G>A)
c.3874+3G>A (n.3874+3G>A)
c.3970+3G>A (n.3970+3G>A)
c.3820+3G>A (n.3820+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335168A>CCA360757277FBN2n.757+2T>G
n.838+2T>G
c.3973+2T>G (n.3973+2T>G)
c.523+2T>G (n.523+2T>G)
c.3874+2T>G (n.3874+2T>G)
c.3970+2T>G (n.3970+2T>G)
c.3820+2T>G (n.3820+2T>G)
5g.128335168A>GCA360757276FBN2n.757+2T>C
n.838+2T>C
c.3973+2T>C (n.3973+2T>C)
c.523+2T>C (n.523+2T>C)
c.3874+2T>C (n.3874+2T>C)
c.3970+2T>C (n.3970+2T>C)
c.3820+2T>C (n.3820+2T>C)
5g.128335168A>TCA360757275FBN2n.757+2T>A
n.838+2T>A
c.3973+2T>A (n.3973+2T>A)
c.523+2T>A (n.523+2T>A)
c.3874+2T>A (n.3874+2T>A)
c.3970+2T>A (n.3970+2T>A)
c.3820+2T>A (n.3820+2T>A)
5g.128335169C>ACA360757278FBN2n.757+1G>T
n.838+1G>T
c.3973+1G>T (n.3973+1G>T)
c.523+1G>T (n.523+1G>T)
c.3874+1G>T (n.3874+1G>T)
c.3970+1G>T (n.3970+1G>T)
c.3820+1G>T (n.3820+1G>T)
5g.128335169C>GCA360757279FBN2n.757+1G>C
n.838+1G>C
c.3973+1G>C (n.3973+1G>C)
c.523+1G>C (n.523+1G>C)
c.3874+1G>C (n.3874+1G>C)
c.3970+1G>C (n.3970+1G>C)
c.3820+1G>C (n.3820+1G>C)
5g.128335169C>TCA360757280FBN2n.757+1G>A
n.838+1G>A
c.3973+1G>A (n.3973+1G>A)
c.523+1G>A (n.523+1G>A)
c.3874+1G>A (n.3874+1G>A)
c.3970+1G>A (n.3970+1G>A)
c.3820+1G>A (n.3820+1G>A)
5g.128335170C>ACA360757281FBN2n.757G>T
n.838G>T
c.3973G>T (p.Asp1325Tyr)
c.523G>T (p.Asp175Tyr)
c.3874G>T (p.Asp1292Tyr)
c.3970G>T (p.Asp1324Tyr)
c.3820G>T (p.Asp1274Tyr)
5g.128335170C=CA1581269471FBN2n.757G=
n.838G=
c.3973G= (p.Asp1325=)
c.523G= (p.Asp175=)
c.3874G= (p.Asp1292=)
c.3970G= (p.Asp1324=)
c.3820G= (p.Asp1274=)
5g.128335170C>GCA360757282FBN2n.757G>C
n.838G>C
c.3973G>C (p.Asp1325His)
c.523G>C (p.Asp175His)
c.3874G>C (p.Asp1292His)
c.3970G>C (p.Asp1324His)
c.3820G>C (p.Asp1274His)
5g.128335170C>TCA360757283FBN2n.757G>A
n.838G>A
c.3973G>A (p.Asp1325Asn)
c.523G>A (p.Asp175Asn)
c.3874G>A (p.Asp1292Asn)
c.3970G>A (p.Asp1324Asn)
c.3820G>A (p.Asp1274Asn)
 ClinVar dbSNP
5g.128335171A>CCA360757284FBN2n.756T>G
n.837T>G
c.3972T>G (p.Ile1324Met)
c.522T>G (p.Ile174Met)
c.3873T>G (p.Ile1291Met)
c.3969T>G (p.Ile1323Met)
c.3819T>G (p.Ile1273Met)
5g.128335171A>GCA446310020FBN2n.756T>C
n.837T>C
c.3972T>C (p.Ile1324=)
c.522T>C (p.Ile174=)
c.3873T>C (p.Ile1291=)
c.3969T>C (p.Ile1323=)
c.3819T>C (p.Ile1273=)
5g.128335171A>TCA446310021FBN2n.756T>A
n.837T>A
c.3972T>A (p.Ile1324=)
c.522T>A (p.Ile174=)
c.3873T>A (p.Ile1291=)
c.3969T>A (p.Ile1323=)
c.3819T>A (p.Ile1273=)
5g.128335172A=CA1581269472FBN2n.755T=
n.836T=
c.3971T= (p.Ile1324=)
c.521T= (p.Ile174=)
c.3872T= (p.Ile1291=)
c.3968T= (p.Ile1323=)
c.3818T= (p.Ile1273=)
5g.128335172A>CCA360757285FBN2n.755T>G
n.836T>G
c.3971T>G (p.Ile1324Ser)
c.521T>G (p.Ile174Ser)
c.3872T>G (p.Ile1291Ser)
c.3968T>G (p.Ile1323Ser)
c.3818T>G (p.Ile1273Ser)
5g.128335172A>GCA3395095FBN2n.755T>C
n.836T>C
c.3971T>C (p.Ile1324Thr)
c.521T>C (p.Ile174Thr)
c.3872T>C (p.Ile1291Thr)
c.3968T>C (p.Ile1323Thr)
c.3818T>C (p.Ile1273Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335172A>TCA360757286FBN2n.755T>A
n.836T>A
c.3971T>A (p.Ile1324Asn)
c.521T>A (p.Ile174Asn)
c.3872T>A (p.Ile1291Asn)
c.3968T>A (p.Ile1323Asn)
c.3818T>A (p.Ile1273Asn)
5g.128335173T>ACA360757287FBN2n.754A>T
n.835A>T
c.3970A>T (p.Ile1324Phe)
c.520A>T (p.Ile174Phe)
c.3871A>T (p.Ile1291Phe)
c.3967A>T (p.Ile1323Phe)
c.3817A>T (p.Ile1273Phe)
5g.128335173T>CCA360757288FBN2n.754A>G
n.835A>G
c.3970A>G (p.Ile1324Val)
c.520A>G (p.Ile174Val)
c.3871A>G (p.Ile1291Val)
c.3967A>G (p.Ile1323Val)
c.3817A>G (p.Ile1273Val)
 dbSNP gnomAD v3 gnomAD v4
5g.128335173T>GCA360757289FBN2n.754A>C
n.835A>C
c.3970A>C (p.Ile1324Leu)
c.520A>C (p.Ile174Leu)
c.3871A>C (p.Ile1291Leu)
c.3967A>C (p.Ile1323Leu)
c.3817A>C (p.Ile1273Leu)
5g.128335173T=CA1581269473FBN2n.754A=
n.835A=
c.3970A= (p.Ile1324=)
c.520A= (p.Ile174=)
c.3871A= (p.Ile1291=)
c.3967A= (p.Ile1323=)
c.3817A= (p.Ile1273=)
5g.128335174G>ACA446310023FBN2n.753C>T
n.834C>T
c.3969C>T (p.Cys1323=)
c.519C>T (p.Cys173=)
c.3870C>T (p.Cys1290=)
c.3966C>T (p.Cys1322=)
c.3816C>T (p.Cys1272=)
5g.128335174G>CCA360757291FBN2n.753C>G
n.834C>G
c.3969C>G (p.Cys1323Trp)
c.519C>G (p.Cys173Trp)
c.3870C>G (p.Cys1290Trp)
c.3966C>G (p.Cys1322Trp)
c.3816C>G (p.Cys1272Trp)
5g.128335174G>TCA360757290FBN2n.753C>A
n.834C>A
c.3969C>A (p.Cys1323Ter)
c.519C>A (p.Cys173Ter)
c.3870C>A (p.Cys1290Ter)
c.3966C>A (p.Cys1322Ter)
c.3816C>A (p.Cys1272Ter)
5g.128335175C>ACA360757292FBN2n.752G>T
n.833G>T
c.3968G>T (p.Cys1323Phe)
c.518G>T (p.Cys173Phe)
c.3869G>T (p.Cys1290Phe)
c.3965G>T (p.Cys1322Phe)
c.3815G>T (p.Cys1272Phe)
 gnomAD v4
5g.128335175C>GCA360757293FBN2n.752G>C
n.833G>C
c.3968G>C (p.Cys1323Ser)
c.518G>C (p.Cys173Ser)
c.3869G>C (p.Cys1290Ser)
c.3965G>C (p.Cys1322Ser)
c.3815G>C (p.Cys1272Ser)
 ClinVar
5g.128335175C>TCA360757294FBN2n.752G>A
n.833G>A
c.3968G>A (p.Cys1323Tyr)
c.518G>A (p.Cys173Tyr)
c.3869G>A (p.Cys1290Tyr)
c.3965G>A (p.Cys1322Tyr)
c.3815G>A (p.Cys1272Tyr)
 gnomAD v4
5g.128335176A=CA1581269474FBN2n.751T=
n.832T=
c.3967T= (p.Cys1323=)
c.517T= (p.Cys173=)
c.3868T= (p.Cys1290=)
c.3964T= (p.Cys1322=)
c.3814T= (p.Cys1272=)
5g.128335176A>CCA360757295FBN2n.751T>G
n.832T>G
c.3967T>G (p.Cys1323Gly)
c.517T>G (p.Cys173Gly)
c.3868T>G (p.Cys1290Gly)
c.3964T>G (p.Cys1322Gly)
c.3814T>G (p.Cys1272Gly)
 ClinVar dbSNP
5g.128335176A>GCA360757296FBN2n.751T>C
n.832T>C
c.3967T>C (p.Cys1323Arg)
c.517T>C (p.Cys173Arg)
c.3868T>C (p.Cys1290Arg)
c.3964T>C (p.Cys1322Arg)
c.3814T>C (p.Cys1272Arg)
 ClinVar
5g.128335176A>TCA360757297FBN2n.751T>A
n.832T>A
c.3967T>A (p.Cys1323Ser)
c.517T>A (p.Cys173Ser)
c.3868T>A (p.Cys1290Ser)
c.3964T>A (p.Cys1322Ser)
c.3814T>A (p.Cys1272Ser)
5g.128335177T>ACA446310026FBN2n.750A>T
n.831A>T
c.3966A>T (p.Thr1322=)
c.516A>T (p.Thr172=)
c.3867A>T (p.Thr1289=)
c.3963A>T (p.Thr1321=)
c.3813A>T (p.Thr1271=)
 gnomAD v4
5g.128335177T>CCA446310028FBN2n.750A>G
n.831A>G
c.3966A>G (p.Thr1322=)
c.516A>G (p.Thr172=)
c.3867A>G (p.Thr1289=)
c.3963A>G (p.Thr1321=)
c.3813A>G (p.Thr1271=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335177T>GCA446310030FBN2n.750A>C
n.831A>C
c.3966A>C (p.Thr1322=)
c.516A>C (p.Thr172=)
c.3867A>C (p.Thr1289=)
c.3963A>C (p.Thr1321=)
c.3813A>C (p.Thr1271=)
5g.128335177T=CA1581269475FBN2n.750A=
n.831A=
c.3966A= (p.Thr1322=)
c.516A= (p.Thr172=)
c.3867A= (p.Thr1289=)
c.3963A= (p.Thr1321=)
c.3813A= (p.Thr1271=)
5g.128335178G>ACA360757298FBN2n.749C>T
n.830C>T
c.3965C>T (p.Thr1322Ile)
c.515C>T (p.Thr172Ile)
c.3866C>T (p.Thr1289Ile)
c.3962C>T (p.Thr1321Ile)
c.3812C>T (p.Thr1271Ile)
5g.128335178G>CCA360757299FBN2n.749C>G
n.830C>G
c.3965C>G (p.Thr1322Arg)
c.515C>G (p.Thr172Arg)
c.3866C>G (p.Thr1289Arg)
c.3962C>G (p.Thr1321Arg)
c.3812C>G (p.Thr1271Arg)
5g.128335178G>TCA360757300FBN2n.749C>A
n.830C>A
c.3965C>A (p.Thr1322Lys)
c.515C>A (p.Thr172Lys)
c.3866C>A (p.Thr1289Lys)
c.3962C>A (p.Thr1321Lys)
c.3812C>A (p.Thr1271Lys)
5g.128335179T>ACA360757301FBN2n.748A>T
n.829A>T
c.3964A>T (p.Thr1322Ser)
c.514A>T (p.Thr172Ser)
c.3865A>T (p.Thr1289Ser)
c.3961A>T (p.Thr1321Ser)
c.3811A>T (p.Thr1271Ser)
5g.128335179T>CCA3395096FBN2n.748A>G
n.829A>G
c.3964A>G (p.Thr1322Ala)
c.514A>G (p.Thr172Ala)
c.3865A>G (p.Thr1289Ala)
c.3961A>G (p.Thr1321Ala)
c.3811A>G (p.Thr1271Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335179T>GCA360757302FBN2n.748A>C
n.829A>C
c.3964A>C (p.Thr1322Pro)
c.514A>C (p.Thr172Pro)
c.3865A>C (p.Thr1289Pro)
c.3961A>C (p.Thr1321Pro)
c.3811A>C (p.Thr1271Pro)
5g.128335179T=CA1581269476FBN2n.748A=
n.829A=
c.3964A= (p.Thr1322=)
c.514A= (p.Thr172=)
c.3865A= (p.Thr1289=)
c.3961A= (p.Thr1321=)
c.3811A= (p.Thr1271=)
5g.128335180T>ACA360757303FBN2n.747A>T
n.828A>T
c.3963A>T (p.Lys1321Asn)
c.513A>T (p.Lys171Asn)
c.3864A>T (p.Lys1288Asn)
c.3960A>T (p.Lys1320Asn)
c.3810A>T (p.Lys1270Asn)
5g.128335180T>CCA446310032FBN2n.747A>G
n.828A>G
c.3963A>G (p.Lys1321=)
c.513A>G (p.Lys171=)
c.3864A>G (p.Lys1288=)
c.3960A>G (p.Lys1320=)
c.3810A>G (p.Lys1270=)
5g.128335180T>GCA360757304FBN2n.747A>C
n.828A>C
c.3963A>C (p.Lys1321Asn)
c.513A>C (p.Lys171Asn)
c.3864A>C (p.Lys1288Asn)
c.3960A>C (p.Lys1320Asn)
c.3810A>C (p.Lys1270Asn)
5g.128335181T>ACA360757307FBN2n.746A>T
n.827A>T
c.3962A>T (p.Lys1321Ile)
c.512A>T (p.Lys171Ile)
c.3863A>T (p.Lys1288Ile)
c.3959A>T (p.Lys1320Ile)
c.3809A>T (p.Lys1270Ile)
5g.128335181T>CCA360757306FBN2n.746A>G
n.827A>G
c.3962A>G (p.Lys1321Arg)
c.512A>G (p.Lys171Arg)
c.3863A>G (p.Lys1288Arg)
c.3959A>G (p.Lys1320Arg)
c.3809A>G (p.Lys1270Arg)
5g.128335181T>GCA360757305FBN2n.746A>C
n.827A>C
c.3962A>C (p.Lys1321Thr)
c.512A>C (p.Lys171Thr)
c.3863A>C (p.Lys1288Thr)
c.3959A>C (p.Lys1320Thr)
c.3809A>C (p.Lys1270Thr)
5g.128335182T>ACA360757308FBN2n.745A>T
n.826A>T
c.3961A>T (p.Lys1321Ter)
c.511A>T (p.Lys171Ter)
c.3862A>T (p.Lys1288Ter)
c.3958A>T (p.Lys1320Ter)
c.3808A>T (p.Lys1270Ter)
5g.128335182T>CCA360757309FBN2n.745A>G
n.826A>G
c.3961A>G (p.Lys1321Glu)
c.511A>G (p.Lys171Glu)
c.3862A>G (p.Lys1288Glu)
c.3958A>G (p.Lys1320Glu)
c.3808A>G (p.Lys1270Glu)
5g.128335182T>GCA360757310FBN2n.745A>C
n.826A>C
c.3961A>C (p.Lys1321Gln)
c.511A>C (p.Lys171Gln)
c.3862A>C (p.Lys1288Gln)
c.3958A>C (p.Lys1320Gln)
c.3808A>C (p.Lys1270Gln)
5g.128335183C>ACA360757311FBN2n.744G>T
n.825G>T
c.3960G>T (p.Met1320Ile)
c.510G>T (p.Met170Ile)
c.3861G>T (p.Met1287Ile)
c.3957G>T (p.Met1319Ile)
c.3807G>T (p.Met1269Ile)
 ClinVar dbSNP
5g.128335183C=CA1581269477FBN2n.744G=
n.825G=
c.3960G= (p.Met1320=)
c.510G= (p.Met170=)
c.3861G= (p.Met1287=)
c.3957G= (p.Met1319=)
c.3807G= (p.Met1269=)
5g.128335183C>GCA360757312FBN2n.744G>C
n.825G>C
c.3960G>C (p.Met1320Ile)
c.510G>C (p.Met170Ile)
c.3861G>C (p.Met1287Ile)
c.3957G>C (p.Met1319Ile)
c.3807G>C (p.Met1269Ile)
5g.128335183C>TCA360757313FBN2n.744G>A
n.825G>A
c.3960G>A (p.Met1320Ile)
c.510G>A (p.Met170Ile)
c.3861G>A (p.Met1287Ile)
c.3957G>A (p.Met1319Ile)
c.3807G>A (p.Met1269Ile)
5g.128335184A>CCA360757314FBN2n.743T>G
n.824T>G
c.3959T>G (p.Met1320Arg)
c.509T>G (p.Met170Arg)
c.3860T>G (p.Met1287Arg)
c.3956T>G (p.Met1319Arg)
c.3806T>G (p.Met1269Arg)
5g.128335184A>GCA360757315FBN2n.743T>C
n.824T>C
c.3959T>C (p.Met1320Thr)
c.509T>C (p.Met170Thr)
c.3860T>C (p.Met1287Thr)
c.3956T>C (p.Met1319Thr)
c.3806T>C (p.Met1269Thr)
 gnomAD v4
5g.128335184A>TCA360757316FBN2n.743T>A
n.824T>A
c.3959T>A (p.Met1320Lys)
c.509T>A (p.Met170Lys)
c.3860T>A (p.Met1287Lys)
c.3956T>A (p.Met1319Lys)
c.3806T>A (p.Met1269Lys)
5g.128335185T>ACA360757317FBN2n.742A>T
n.823A>T
c.3958A>T (p.Met1320Leu)
c.508A>T (p.Met170Leu)
c.3859A>T (p.Met1287Leu)
c.3955A>T (p.Met1319Leu)
c.3805A>T (p.Met1269Leu)
 gnomAD v4
5g.128335185T>CCA3395097FBN2n.742A>G
n.823A>G
c.3958A>G (p.Met1320Val)
c.508A>G (p.Met170Val)
c.3859A>G (p.Met1287Val)
c.3955A>G (p.Met1319Val)
c.3805A>G (p.Met1269Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335185T>GCA360757318FBN2n.742A>C
n.823A>C
c.3958A>C (p.Met1320Leu)
c.508A>C (p.Met170Leu)
c.3859A>C (p.Met1287Leu)
c.3955A>C (p.Met1319Leu)
c.3805A>C (p.Met1269Leu)
5g.128335185T=CA1581269478FBN2n.742A=
n.823A=
c.3958A= (p.Met1320=)
c.508A= (p.Met170=)
c.3859A= (p.Met1287=)
c.3955A= (p.Met1319=)
c.3805A= (p.Met1269=)
5g.128335186G>ACA446310039FBN2n.741C>T
n.822C>T
c.3957C>T (p.Asp1319=)
c.507C>T (p.Asp169=)
c.3858C>T (p.Asp1286=)
c.3954C>T (p.Asp1318=)
c.3804C>T (p.Asp1268=)
 dbSNP
5g.128335186G>CCA3395098FBN2n.741C>G
n.822C>G
c.3957C>G (p.Asp1319Glu)
c.507C>G (p.Asp169Glu)
c.3858C>G (p.Asp1286Glu)
c.3954C>G (p.Asp1318Glu)
c.3804C>G (p.Asp1268Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335186G=CA1581269479FBN2n.741C=
n.822C=
c.3957C= (p.Asp1319=)
c.507C= (p.Asp169=)
c.3858C= (p.Asp1286=)
c.3954C= (p.Asp1318=)
c.3804C= (p.Asp1268=)
5g.128335186G>TCA360757319FBN2n.741C>A
n.822C>A
c.3957C>A (p.Asp1319Glu)
c.507C>A (p.Asp169Glu)
c.3858C>A (p.Asp1286Glu)
c.3954C>A (p.Asp1318Glu)
c.3804C>A (p.Asp1268Glu)
 COSMIC COSMIC
5g.128335187T>ACA360757321FBN2n.740A>T
n.821A>T
c.3956A>T (p.Asp1319Val)
c.506A>T (p.Asp169Val)
c.3857A>T (p.Asp1286Val)
c.3953A>T (p.Asp1318Val)
c.3803A>T (p.Asp1268Val)
5g.128335187T>CCA360757322FBN2n.740A>G
n.821A>G
c.3956A>G (p.Asp1319Gly)
c.506A>G (p.Asp169Gly)
c.3857A>G (p.Asp1286Gly)
c.3953A>G (p.Asp1318Gly)
c.3803A>G (p.Asp1268Gly)
5g.128335187T>GCA360757320FBN2n.740A>C
n.821A>C
c.3956A>C (p.Asp1319Ala)
c.506A>C (p.Asp169Ala)
c.3857A>C (p.Asp1286Ala)
c.3953A>C (p.Asp1318Ala)
c.3803A>C (p.Asp1268Ala)
5g.128335188C>ACA360757323FBN2n.739G>T
n.820G>T
c.3955G>T (p.Asp1319Tyr)
c.505G>T (p.Asp169Tyr)
c.3856G>T (p.Asp1286Tyr)
c.3952G>T (p.Asp1318Tyr)
c.3802G>T (p.Asp1268Tyr)
5g.128335188C>GCA360757324FBN2n.739G>C
n.820G>C
c.3955G>C (p.Asp1319His)
c.505G>C (p.Asp169His)
c.3856G>C (p.Asp1286His)
c.3952G>C (p.Asp1318His)
c.3802G>C (p.Asp1268His)
5g.128335188C>TCA360757325FBN2n.739G>A
n.820G>A
c.3955G>A (p.Asp1319Asn)
c.505G>A (p.Asp169Asn)
c.3856G>A (p.Asp1286Asn)
c.3952G>A (p.Asp1318Asn)
c.3802G>A (p.Asp1268Asn)
 COSMIC COSMIC
5g.128335189C>ACA360757326FBN2n.738G>T
n.819G>T
c.3954G>T (p.Met1318Ile)
c.504G>T (p.Met168Ile)
c.3855G>T (p.Met1285Ile)
c.3951G>T (p.Met1317Ile)
c.3801G>T (p.Met1267Ile)
 gnomAD v4
5g.128335189C>GCA360757327FBN2n.738G>C
n.819G>C
c.3954G>C (p.Met1318Ile)
c.504G>C (p.Met168Ile)
c.3855G>C (p.Met1285Ile)
c.3951G>C (p.Met1317Ile)
c.3801G>C (p.Met1267Ile)
5g.128335189C>TCA360757328FBN2n.738G>A
n.819G>A
c.3954G>A (p.Met1318Ile)
c.504G>A (p.Met168Ile)
c.3855G>A (p.Met1285Ile)
c.3951G>A (p.Met1317Ile)
c.3801G>A (p.Met1267Ile)
5g.128335190A=CA1581269480FBN2n.737T=
n.818T=
c.3953T= (p.Met1318=)
c.503T= (p.Met168=)
c.3854T= (p.Met1285=)
c.3950T= (p.Met1317=)
c.3800T= (p.Met1267=)
5g.128335190A>CCA360757329FBN2n.737T>G
n.818T>G
c.3953T>G (p.Met1318Arg)
c.503T>G (p.Met168Arg)
c.3854T>G (p.Met1285Arg)
c.3950T>G (p.Met1317Arg)
c.3800T>G (p.Met1267Arg)
5g.128335190A>GCA360757330FBN2n.737T>C
n.818T>C
c.3953T>C (p.Met1318Thr)
c.503T>C (p.Met168Thr)
c.3854T>C (p.Met1285Thr)
c.3950T>C (p.Met1317Thr)
c.3800T>C (p.Met1267Thr)
5g.128335190A>TCA3395099FBN2n.737T>A
n.818T>A
c.3953T>A (p.Met1318Lys)
c.503T>A (p.Met168Lys)
c.3854T>A (p.Met1285Lys)
c.3950T>A (p.Met1317Lys)
c.3800T>A (p.Met1267Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335191T>ACA360757331FBN2n.736A>T
n.817A>T
c.3952A>T (p.Met1318Leu)
c.502A>T (p.Met168Leu)
c.3853A>T (p.Met1285Leu)
c.3949A>T (p.Met1317Leu)
c.3799A>T (p.Met1267Leu)
5g.128335191T>CCA360757332FBN2n.736A>G
n.817A>G
c.3952A>G (p.Met1318Val)
c.502A>G (p.Met168Val)
c.3853A>G (p.Met1285Val)
c.3949A>G (p.Met1317Val)
c.3799A>G (p.Met1267Val)
 gnomAD v4
5g.128335191T>GCA360757333FBN2n.736A>C
n.817A>C
c.3952A>C (p.Met1318Leu)
c.502A>C (p.Met168Leu)
c.3853A>C (p.Met1285Leu)
c.3949A>C (p.Met1317Leu)
c.3799A>C (p.Met1267Leu)
5g.128335192G>ACA446310045FBN2n.735C>T
n.816C>T
c.3951C>T (p.Ser1317=)
c.501C>T (p.Ser167=)
c.3852C>T (p.Ser1284=)
c.3948C>T (p.Ser1316=)
c.3798C>T (p.Ser1266=)
5g.128335192G>CCA446310046FBN2n.735C>G
n.816C>G
c.3951C>G (p.Ser1317=)
c.501C>G (p.Ser167=)
c.3852C>G (p.Ser1284=)
c.3948C>G (p.Ser1316=)
c.3798C>G (p.Ser1266=)
5g.128335192G>TCA446310047FBN2n.735C>A
n.816C>A
c.3951C>A (p.Ser1317=)
c.501C>A (p.Ser167=)
c.3852C>A (p.Ser1284=)
c.3948C>A (p.Ser1316=)
c.3798C>A (p.Ser1266=)
 gnomAD v4
5g.128335193G>ACA360757336FBN2n.734C>T
n.815C>T
c.3950C>T (p.Ser1317Phe)
c.500C>T (p.Ser167Phe)
c.3851C>T (p.Ser1284Phe)
c.3947C>T (p.Ser1316Phe)
c.3797C>T (p.Ser1266Phe)
5g.128335193G>CCA360757335FBN2n.734C>G
n.815C>G
c.3950C>G (p.Ser1317Cys)
c.500C>G (p.Ser167Cys)
c.3851C>G (p.Ser1284Cys)
c.3947C>G (p.Ser1316Cys)
c.3797C>G (p.Ser1266Cys)
5g.128335193G>TCA360757334FBN2n.734C>A
n.815C>A
c.3950C>A (p.Ser1317Tyr)
c.500C>A (p.Ser167Tyr)
c.3851C>A (p.Ser1284Tyr)
c.3947C>A (p.Ser1316Tyr)
c.3797C>A (p.Ser1266Tyr)
5g.128335194A>CCA360757337FBN2n.733T>G
n.814T>G
c.3949T>G (p.Ser1317Ala)
c.499T>G (p.Ser167Ala)
c.3850T>G (p.Ser1284Ala)
c.3946T>G (p.Ser1316Ala)
c.3796T>G (p.Ser1266Ala)
5g.128335194A>GCA360757338FBN2n.733T>C
n.814T>C
c.3949T>C (p.Ser1317Pro)
c.499T>C (p.Ser167Pro)
c.3850T>C (p.Ser1284Pro)
c.3946T>C (p.Ser1316Pro)
c.3796T>C (p.Ser1266Pro)
5g.128335194A>TCA360757339FBN2n.733T>A
n.814T>A
c.3949T>A (p.Ser1317Thr)
c.499T>A (p.Ser167Thr)
c.3850T>A (p.Ser1284Thr)
c.3946T>A (p.Ser1316Thr)
c.3796T>A (p.Ser1266Thr)
5g.128335195A>CCA446310049FBN2n.732T>G
n.813T>G
c.3948T>G (p.Ala1316=)
c.498T>G (p.Ala166=)
c.3849T>G (p.Ala1283=)
c.3945T>G (p.Ala1315=)
c.3795T>G (p.Ala1265=)
5g.128335195A>GCA446310050FBN2n.732T>C
n.813T>C
c.3948T>C (p.Ala1316=)
c.498T>C (p.Ala166=)
c.3849T>C (p.Ala1283=)
c.3945T>C (p.Ala1315=)
c.3795T>C (p.Ala1265=)
5g.128335195A>TCA446310051FBN2n.732T>A
n.813T>A
c.3948T>A (p.Ala1316=)
c.498T>A (p.Ala166=)
c.3849T>A (p.Ala1283=)
c.3945T>A (p.Ala1315=)
c.3795T>A (p.Ala1265=)
5g.128335196G>ACA360757340FBN2n.731C>T
n.812C>T
c.3947C>T (p.Ala1316Val)
c.497C>T (p.Ala166Val)
c.3848C>T (p.Ala1283Val)
c.3944C>T (p.Ala1315Val)
c.3794C>T (p.Ala1265Val)
5g.128335196G>CCA360757341FBN2n.731C>G
n.812C>G
c.3947C>G (p.Ala1316Gly)
c.497C>G (p.Ala166Gly)
c.3848C>G (p.Ala1283Gly)
c.3944C>G (p.Ala1315Gly)
c.3794C>G (p.Ala1265Gly)
5g.128335196G>TCA360757342FBN2n.731C>A
n.812C>A
c.3947C>A (p.Ala1316Asp)
c.497C>A (p.Ala166Asp)
c.3848C>A (p.Ala1283Asp)
c.3944C>A (p.Ala1315Asp)
c.3794C>A (p.Ala1265Asp)
5g.128335197C>ACA360757343FBN2n.730G>T
n.811G>T
c.3946G>T (p.Ala1316Ser)
c.496G>T (p.Ala166Ser)
c.3847G>T (p.Ala1283Ser)
c.3943G>T (p.Ala1315Ser)
c.3793G>T (p.Ala1265Ser)
5g.128335197C>GCA360757344FBN2n.730G>C
n.811G>C
c.3946G>C (p.Ala1316Pro)
c.496G>C (p.Ala166Pro)
c.3847G>C (p.Ala1283Pro)
c.3943G>C (p.Ala1315Pro)
c.3793G>C (p.Ala1265Pro)
5g.128335197C>TCA360757345FBN2n.730G>A
n.811G>A
c.3946G>A (p.Ala1316Thr)
c.496G>A (p.Ala166Thr)
c.3847G>A (p.Ala1283Thr)
c.3943G>A (p.Ala1315Thr)
c.3793G>A (p.Ala1265Thr)
5g.128335198C>ACA360757346FBN2n.729G>T
n.810G>T
c.3945G>T (p.Met1315Ile)
c.495G>T (p.Met165Ile)
c.3846G>T (p.Met1282Ile)
c.3942G>T (p.Met1314Ile)
c.3792G>T (p.Met1264Ile)
5g.128335198C=CA1581269481FBN2n.729G=
n.810G=
c.3945G= (p.Met1315=)
c.495G= (p.Met165=)
c.3846G= (p.Met1282=)
c.3942G= (p.Met1314=)
c.3792G= (p.Met1264=)
5g.128335198C>GCA360757347FBN2n.729G>C
n.810G>C
c.3945G>C (p.Met1315Ile)
c.495G>C (p.Met165Ile)
c.3846G>C (p.Met1282Ile)
c.3942G>C (p.Met1314Ile)
c.3792G>C (p.Met1264Ile)
5g.128335198C>TCA360757348FBN2n.729G>A
n.810G>A
c.3945G>A (p.Met1315Ile)
c.495G>A (p.Met165Ile)
c.3846G>A (p.Met1282Ile)
c.3942G>A (p.Met1314Ile)
c.3792G>A (p.Met1264Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.128335199A>CCA360757349FBN2n.728T>G
n.809T>G
c.3944T>G (p.Met1315Arg)
c.494T>G (p.Met165Arg)
c.3845T>G (p.Met1282Arg)
c.3941T>G (p.Met1314Arg)
c.3791T>G (p.Met1264Arg)
5g.128335199A>GCA360757351FBN2n.728T>C
n.809T>C
c.3944T>C (p.Met1315Thr)
c.494T>C (p.Met165Thr)
c.3845T>C (p.Met1282Thr)
c.3941T>C (p.Met1314Thr)
c.3791T>C (p.Met1264Thr)
5g.128335199A>TCA360757350FBN2n.728T>A
n.809T>A
c.3944T>A (p.Met1315Lys)
c.494T>A (p.Met165Lys)
c.3845T>A (p.Met1282Lys)
c.3941T>A (p.Met1314Lys)
c.3791T>A (p.Met1264Lys)
 gnomAD v4
5g.128335200T>ACA360757352FBN2n.727A>T
n.808A>T
c.3943A>T (p.Met1315Leu)
c.493A>T (p.Met165Leu)
c.3844A>T (p.Met1282Leu)
c.3940A>T (p.Met1314Leu)
c.3790A>T (p.Met1264Leu)
5g.128335200T>CCA360757354FBN2n.727A>G
n.808A>G
c.3943A>G (p.Met1315Val)
c.493A>G (p.Met165Val)
c.3844A>G (p.Met1282Val)
c.3940A>G (p.Met1314Val)
c.3790A>G (p.Met1264Val)
5g.128335200T>GCA360757353FBN2n.727A>C
n.808A>C
c.3943A>C (p.Met1315Leu)
c.493A>C (p.Met165Leu)
c.3844A>C (p.Met1282Leu)
c.3940A>C (p.Met1314Leu)
c.3790A>C (p.Met1264Leu)
5g.128335201G>ACA446310052FBN2n.726C>T
n.807C>T
c.3942C>T (p.Phe1314=)
c.492C>T (p.Phe164=)
c.3843C>T (p.Phe1281=)
c.3939C>T (p.Phe1313=)
c.3789C>T (p.Phe1263=)
5g.128335201G>CCA360757355FBN2n.726C>G
n.807C>G
c.3942C>G (p.Phe1314Leu)
c.492C>G (p.Phe164Leu)
c.3843C>G (p.Phe1281Leu)
c.3939C>G (p.Phe1313Leu)
c.3789C>G (p.Phe1263Leu)
5g.128335201G>TCA360757356FBN2n.726C>A
n.807C>A
c.3942C>A (p.Phe1314Leu)
c.492C>A (p.Phe164Leu)
c.3843C>A (p.Phe1281Leu)
c.3939C>A (p.Phe1313Leu)
c.3789C>A (p.Phe1263Leu)
5g.128335202A>CCA360757357FBN2n.725T>G
n.806T>G
c.3941T>G (p.Phe1314Cys)
c.491T>G (p.Phe164Cys)
c.3842T>G (p.Phe1281Cys)
c.3938T>G (p.Phe1313Cys)
c.3788T>G (p.Phe1263Cys)
5g.128335202A>GCA360757359FBN2n.725T>C
n.806T>C
c.3941T>C (p.Phe1314Ser)
c.491T>C (p.Phe164Ser)
c.3842T>C (p.Phe1281Ser)
c.3938T>C (p.Phe1313Ser)
c.3788T>C (p.Phe1263Ser)
5g.128335202A>TCA360757358FBN2n.725T>A
n.806T>A
c.3941T>A (p.Phe1314Tyr)
c.491T>A (p.Phe164Tyr)
c.3842T>A (p.Phe1281Tyr)
c.3938T>A (p.Phe1313Tyr)
c.3788T>A (p.Phe1263Tyr)
 gnomAD v4
5g.128335203A>CCA360757360FBN2n.724T>G
n.805T>G
c.3940T>G (p.Phe1314Val)
c.490T>G (p.Phe164Val)
c.3841T>G (p.Phe1281Val)
c.3937T>G (p.Phe1313Val)
c.3787T>G (p.Phe1263Val)
5g.128335203A>GCA360757361FBN2n.724T>C
n.805T>C
c.3940T>C (p.Phe1314Leu)
c.490T>C (p.Phe164Leu)
c.3841T>C (p.Phe1281Leu)
c.3937T>C (p.Phe1313Leu)
c.3787T>C (p.Phe1263Leu)
5g.128335203A>TCA360757362FBN2n.724T>A
n.805T>A
c.3940T>A (p.Phe1314Ile)
c.490T>A (p.Phe164Ile)
c.3841T>A (p.Phe1281Ile)
c.3937T>A (p.Phe1313Ile)
c.3787T>A (p.Phe1263Ile)
5g.128335204G>ACA446310053FBN2n.723C>T
n.804C>T
c.3939C>T (p.Gly1313=)
c.489C>T (p.Gly163=)
c.3840C>T (p.Gly1280=)
c.3936C>T (p.Gly1312=)
c.3786C>T (p.Gly1262=)
5g.128335204G>CCA446310054FBN2n.723C>G
n.804C>G
c.3939C>G (p.Gly1313=)
c.489C>G (p.Gly163=)
c.3840C>G (p.Gly1280=)
c.3936C>G (p.Gly1312=)
c.3786C>G (p.Gly1262=)
 gnomAD v4
5g.128335204G>TCA446310055FBN2n.723C>A
n.804C>A
c.3939C>A (p.Gly1313=)
c.489C>A (p.Gly163=)
c.3840C>A (p.Gly1280=)
c.3936C>A (p.Gly1312=)
c.3786C>A (p.Gly1262=)
5g.128335205C>ACA360757363FBN2n.722G>T
n.803G>T
c.3938G>T (p.Gly1313Val)
c.488G>T (p.Gly163Val)
c.3839G>T (p.Gly1280Val)
c.3935G>T (p.Gly1312Val)
c.3785G>T (p.Gly1262Val)
5g.128335205C>GCA360757364FBN2n.722G>C
n.803G>C
c.3938G>C (p.Gly1313Ala)
c.488G>C (p.Gly163Ala)
c.3839G>C (p.Gly1280Ala)
c.3935G>C (p.Gly1312Ala)
c.3785G>C (p.Gly1262Ala)
5g.128335205C>TCA360757365FBN2n.722G>A
n.803G>A
c.3938G>A (p.Gly1313Asp)
c.488G>A (p.Gly163Asp)
c.3839G>A (p.Gly1280Asp)
c.3935G>A (p.Gly1312Asp)
c.3785G>A (p.Gly1262Asp)
 gnomAD v4
5g.128335206C>ACA360757366FBN2n.721G>T
n.802G>T
c.3937G>T (p.Gly1313Cys)
c.487G>T (p.Gly163Cys)
c.3838G>T (p.Gly1280Cys)
c.3934G>T (p.Gly1312Cys)
c.3784G>T (p.Gly1262Cys)
5g.128335206C>GCA360757367FBN2n.721G>C
n.802G>C
c.3937G>C (p.Gly1313Arg)
c.487G>C (p.Gly163Arg)
c.3838G>C (p.Gly1280Arg)
c.3934G>C (p.Gly1312Arg)
c.3784G>C (p.Gly1262Arg)
5g.128335206C>TCA360757368FBN2n.721G>A
n.802G>A
c.3937G>A (p.Gly1313Ser)
c.487G>A (p.Gly163Ser)
c.3838G>A (p.Gly1280Ser)
c.3934G>A (p.Gly1312Ser)
c.3784G>A (p.Gly1262Ser)
5g.128335207A>CCA360757369FBN2n.720T>G
n.801T>G
c.3936T>G (p.Asp1312Glu)
c.486T>G (p.Asp162Glu)
c.3837T>G (p.Asp1279Glu)
c.3933T>G (p.Asp1311Glu)
c.3783T>G (p.Asp1261Glu)
 gnomAD v4
5g.128335207A>GCA446310056FBN2n.720T>C
n.801T>C
c.3936T>C (p.Asp1312=)
c.486T>C (p.Asp162=)
c.3837T>C (p.Asp1279=)
c.3933T>C (p.Asp1311=)
c.3783T>C (p.Asp1261=)
5g.128335207A>TCA360757370FBN2n.720T>A
n.801T>A
c.3936T>A (p.Asp1312Glu)
c.486T>A (p.Asp162Glu)
c.3837T>A (p.Asp1279Glu)
c.3933T>A (p.Asp1311Glu)
c.3783T>A (p.Asp1261Glu)
5g.128335208T>ACA360757373FBN2n.719A>T
n.800A>T
c.3935A>T (p.Asp1312Val)
c.485A>T (p.Asp162Val)
c.3836A>T (p.Asp1279Val)
c.3932A>T (p.Asp1311Val)
c.3782A>T (p.Asp1261Val)
 gnomAD v4
5g.128335208T>CCA360757371FBN2n.719A>G
n.800A>G
c.3935A>G (p.Asp1312Gly)
c.485A>G (p.Asp162Gly)
c.3836A>G (p.Asp1279Gly)
c.3932A>G (p.Asp1311Gly)
c.3782A>G (p.Asp1261Gly)
5g.128335208T>GCA360757372FBN2n.719A>C
n.800A>C
c.3935A>C (p.Asp1312Ala)
c.485A>C (p.Asp162Ala)
c.3836A>C (p.Asp1279Ala)
c.3932A>C (p.Asp1311Ala)
c.3782A>C (p.Asp1261Ala)
5g.128335209C>ACA360757374FBN2n.718G>T
n.799G>T
c.3934G>T (p.Asp1312Tyr)
c.484G>T (p.Asp162Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3931G>T (p.Asp1311Tyr)
c.3781G>T (p.Asp1261Tyr)
5g.128335209C>GCA360757375FBN2n.718G>C
n.799G>C
c.3934G>C (p.Asp1312His)
c.484G>C (p.Asp162His)
c.3835G>C (p.Asp1279His)
c.3931G>C (p.Asp1311His)
c.3781G>C (p.Asp1261His)
5g.128335209C>TCA360757376FBN2n.718G>A
n.799G>A
c.3934G>A (p.Asp1312Asn)
c.484G>A (p.Asp162Asn)
c.3835G>A (p.Asp1279Asn)
c.3931G>A (p.Asp1311Asn)
c.3781G>A (p.Asp1261Asn)
5g.128335210A>CCA360757377FBN2n.717T>G
n.798T>G
c.3933T>G (p.Tyr1311Ter)
c.483T>G (p.Tyr161Ter)
c.3834T>G (p.Tyr1278Ter)
c.3930T>G (p.Tyr1310Ter)
c.3780T>G (p.Tyr1260Ter)
5g.128335210A>GCA446310057FBN2n.717T>C
n.798T>C
c.3933T>C (p.Tyr1311=)
c.483T>C (p.Tyr161=)
c.3834T>C (p.Tyr1278=)
c.3930T>C (p.Tyr1310=)
c.3780T>C (p.Tyr1260=)
5g.128335210A>TCA360757378FBN2n.717T>A
n.798T>A
c.3933T>A (p.Tyr1311Ter)
c.483T>A (p.Tyr161Ter)
c.3834T>A (p.Tyr1278Ter)
c.3930T>A (p.Tyr1310Ter)
c.3780T>A (p.Tyr1260Ter)
5g.128335211T>ACA360757379FBN2n.716A>T
n.797A>T
c.3932A>T (p.Tyr1311Phe)
c.482A>T (p.Tyr161Phe)
c.3833A>T (p.Tyr1278Phe)
c.3929A>T (p.Tyr1310Phe)
c.3779A>T (p.Tyr1260Phe)
5g.128335211T>CCA321929FBN2n.716A>G
n.797A>G
c.3932A>G (p.Tyr1311Cys)
c.482A>G (p.Tyr161Cys)
c.3833A>G (p.Tyr1278Cys)
c.3929A>G (p.Tyr1310Cys)
c.3779A>G (p.Tyr1260Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335211T>GCA360757380FBN2n.716A>C
n.797A>C
c.3932A>C (p.Tyr1311Ser)
c.482A>C (p.Tyr161Ser)
c.3833A>C (p.Tyr1278Ser)
c.3929A>C (p.Tyr1310Ser)
c.3779A>C (p.Tyr1260Ser)
 dbSNP
5g.128335211T=CA1581269482FBN2n.716A=
n.797A=
c.3932A= (p.Tyr1311=)
c.482A= (p.Tyr161=)
c.3833A= (p.Tyr1278=)
c.3929A= (p.Tyr1310=)
c.3779A= (p.Tyr1260=)
5g.128335212A=CA1581269483FBN2n.715T=
n.796T=
c.3931T= (p.Tyr1311=)
c.481T= (p.Tyr161=)
c.3832T= (p.Tyr1278=)
c.3928T= (p.Tyr1310=)
c.3778T= (p.Tyr1260=)
5g.128335212A>CCA360757381FBN2n.715T>G
n.796T>G
c.3931T>G (p.Tyr1311Asp)
c.481T>G (p.Tyr161Asp)
c.3832T>G (p.Tyr1278Asp)
c.3928T>G (p.Tyr1310Asp)
c.3778T>G (p.Tyr1260Asp)
5g.128335212A>GCA360757382FBN2n.715T>C
n.796T>C
c.3931T>C (p.Tyr1311His)
c.481T>C (p.Tyr161His)
c.3832T>C (p.Tyr1278His)
c.3928T>C (p.Tyr1310His)
c.3778T>C (p.Tyr1260His)
 dbSNP gnomAD v2 gnomAD v4
5g.128335212A>TCA360757383FBN2n.715T>A
n.796T>A
c.3931T>A (p.Tyr1311Asn)
c.481T>A (p.Tyr161Asn)
c.3832T>A (p.Tyr1278Asn)
c.3928T>A (p.Tyr1310Asn)
c.3778T>A (p.Tyr1260Asn)

Number of alleles fetched