Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91937058C>ACA390639835FBLN5c.*234G>T (n.*234G>T)
c.100G>T (p.Gly34Cys)
c.442G>T (p.Gly148Cys)
c.268G>T (p.Gly90Cys)
c.*118+74G>T (n.*118+74G>T)
c.391G>T (p.Gly131Cys)
c.283G>T (p.Gly95Cys)
n.514G>T
c.319G>T (p.Gly107Cys)
14g.91937058C=CA2155180481FBLN5c.*234G= (n.*234G=)
c.100G= (p.Gly34=)
c.442G= (p.Gly148=)
c.268G= (p.Gly90=)
c.*118+74G= (n.*118+74G=)
c.391G= (p.Gly131=)
c.283G= (p.Gly95=)
n.514G=
c.319G= (p.Gly107=)
14g.91937058C>GCA390639836FBLN5c.*234G>C (n.*234G>C)
c.100G>C (p.Gly34Arg)
c.442G>C (p.Gly148Arg)
c.268G>C (p.Gly90Arg)
c.*118+74G>C (n.*118+74G>C)
c.391G>C (p.Gly131Arg)
c.283G>C (p.Gly95Arg)
n.514G>C
c.319G>C (p.Gly107Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.91937058C>TCA213355FBLN5c.*234G>A (n.*234G>A)
c.100G>A (p.Gly34Ser)
c.442G>A (p.Gly148Ser)
c.268G>A (p.Gly90Ser)
c.*118+74G>A (n.*118+74G>A)
c.391G>A (p.Gly131Ser)
c.283G>A (p.Gly95Ser)
n.514G>A
c.319G>A (p.Gly107Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937059T>ACA487830565FBLN5c.*233A>T (n.*233A>T)
c.99A>T (p.Ser33=)
c.441A>T (p.Ser147=)
c.267A>T (p.Ser89=)
c.*118+73A>T (n.*118+73A>T)
c.390A>T (p.Ser130=)
c.282A>T (p.Ser94=)
n.513A>T
c.318A>T (p.Ser106=)
14g.91937059T>CCA487830567FBLN5c.*233A>G (n.*233A>G)
c.99A>G (p.Ser33=)
c.441A>G (p.Ser147=)
c.267A>G (p.Ser89=)
c.*118+73A>G (n.*118+73A>G)
c.390A>G (p.Ser130=)
c.282A>G (p.Ser94=)
n.513A>G
c.318A>G (p.Ser106=)
 dbSNP gnomAD v2 gnomAD v4
14g.91937059T>GCA487830566FBLN5c.*233A>C (n.*233A>C)
c.99A>C (p.Ser33=)
c.441A>C (p.Ser147=)
c.267A>C (p.Ser89=)
c.*118+73A>C (n.*118+73A>C)
c.390A>C (p.Ser130=)
c.282A>C (p.Ser94=)
n.513A>C
c.318A>C (p.Ser106=)
14g.91937059T=CA2155180486FBLN5c.*233A= (n.*233A=)
c.99A= (p.Ser33=)
c.441A= (p.Ser147=)
c.267A= (p.Ser89=)
c.*118+73A= (n.*118+73A=)
c.390A= (p.Ser130=)
c.282A= (p.Ser94=)
n.513A=
c.318A= (p.Ser106=)
14g.91937059_91937071delinsTGAGTAGGGGGTCCA2155180487FBLN5c.*221_*233delinsGACCCCCTACTCA (n.*221_*233delinsGACCCCCTACTCA)
c.87_99delinsGACCCCCTACTCA (p.Ser29=)
c.429_441delinsGACCCCCTACTCA (p.Ser143=)
c.255_267delinsGACCCCCTACTCA (p.Ser85=)
c.*118+61_*118+73delinsGACCCCCTACTCA (n.*118+61_*118+73delinsGACCCCCTACTCA)
c.378_390delinsGACCCCCTACTCA (p.Ser126=)
c.270_282delinsGACCCCCTACTCA (p.Ser90=)
n.501_513delinsGACCCCCTACTCA
c.306_318delinsGACCCCCTACTCA (p.Ser102=)
14g.91937060G>ACA265607614FBLN5c.*232C>T (n.*232C>T)
c.98C>T (p.Ser33Leu)
c.440C>T (p.Ser147Leu)
c.266C>T (p.Ser89Leu)
c.*118+72C>T (n.*118+72C>T)
c.389C>T (p.Ser130Leu)
c.281C>T (p.Ser94Leu)
n.512C>T
c.317C>T (p.Ser106Leu)
 ClinVar dbSNP gnomAD v4
14g.91937060G>CCA390639837FBLN5c.*232C>G (n.*232C>G)
c.98C>G (p.Ser33Ter)
c.440C>G (p.Ser147Ter)
c.266C>G (p.Ser89Ter)
c.*118+72C>G (n.*118+72C>G)
c.389C>G (p.Ser130Ter)
c.281C>G (p.Ser94Ter)
n.512C>G
c.317C>G (p.Ser106Ter)
14g.91937060G=CA2155180497FBLN5c.*232C= (n.*232C=)
c.98C= (p.Ser33=)
c.440C= (p.Ser147=)
c.266C= (p.Ser89=)
c.*118+72C= (n.*118+72C=)
c.389C= (p.Ser130=)
c.281C= (p.Ser94=)
n.512C=
c.317C= (p.Ser106=)
14g.91937060G>TCA390639838FBLN5c.*232C>A (n.*232C>A)
c.98C>A (p.Ser33Ter)
c.440C>A (p.Ser147Ter)
c.266C>A (p.Ser89Ter)
c.*118+72C>A (n.*118+72C>A)
c.389C>A (p.Ser130Ter)
c.281C>A (p.Ser94Ter)
n.512C>A
c.317C>A (p.Ser106Ter)
14g.91937069_91937080dupCA7312891FBLN5c.*221_*232dup (n.*221_*232dup)
c.87_98dup (p.Ser33_Gly34insThrProTyrSer)
c.429_440dup (p.Ser147_Gly148insThrProTyrSer)
c.255_266dup (p.Ser89_Gly90insThrProTyrSer)
c.*118+61_*118+72dup (n.*118+61_*118+72dup)
c.378_389dup (p.Ser130_Gly131insThrProTyrSer)
c.270_281dup (p.Ser94_Gly95insThrProTyrSer)
n.501_512dup
c.306_317dup (p.Ser106_Gly107insThrProTyrSer)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937069_91937080delCA7312892FBLN5c.*221_*232del (n.*221_*232del)
c.87_98del (p.Thr30_Ser33del)
c.429_440del (p.Thr144_Ser147del)
c.255_266del (p.Thr86_Ser89del)
c.*118+61_*118+72del (n.*118+61_*118+72del)
c.378_389del (p.Thr127_Ser130del)
c.270_281del (p.Thr91_Ser94del)
n.501_512del
c.306_317del (p.Thr103_Ser106del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937061A=CA2155180499FBLN5c.*231T= (n.*231T=)
c.97T= (p.Ser33=)
c.439T= (p.Ser147=)
c.265T= (p.Ser89=)
c.*118+71T= (n.*118+71T=)
c.388T= (p.Ser130=)
c.280T= (p.Ser94=)
n.511T=
c.316T= (p.Ser106=)
14g.91937061A>CCA390639840FBLN5c.*231T>G (n.*231T>G)
c.97T>G (p.Ser33Ala)
c.439T>G (p.Ser147Ala)
c.265T>G (p.Ser89Ala)
c.*118+71T>G (n.*118+71T>G)
c.388T>G (p.Ser130Ala)
c.280T>G (p.Ser94Ala)
n.511T>G
c.316T>G (p.Ser106Ala)
 ClinVar
14g.91937061A>GCA265607619FBLN5c.*231T>C (n.*231T>C)
c.97T>C (p.Ser33Pro)
c.439T>C (p.Ser147Pro)
c.265T>C (p.Ser89Pro)
c.*118+71T>C (n.*118+71T>C)
c.388T>C (p.Ser130Pro)
c.280T>C (p.Ser94Pro)
n.511T>C
c.316T>C (p.Ser106Pro)
 ClinVar dbSNP gnomAD v4
14g.91937061A>TCA390639839FBLN5c.*231T>A (n.*231T>A)
c.97T>A (p.Ser33Thr)
c.439T>A (p.Ser147Thr)
c.265T>A (p.Ser89Thr)
c.*118+71T>A (n.*118+71T>A)
c.388T>A (p.Ser130Thr)
c.280T>A (p.Ser94Thr)
n.511T>A
c.316T>A (p.Ser106Thr)
14g.91937062G>ACA7312893FBLN5c.*230C>T (n.*230C>T)
c.96C>T (p.Tyr32=)
c.438C>T (p.Tyr146=)
c.264C>T (p.Tyr88=)
c.*118+70C>T (n.*118+70C>T)
c.387C>T (p.Tyr129=)
c.279C>T (p.Tyr93=)
n.510C>T
c.315C>T (p.Tyr105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937062G>CCA390639841FBLN5c.*230C>G (n.*230C>G)
c.96C>G (p.Tyr32Ter)
c.438C>G (p.Tyr146Ter)
c.264C>G (p.Tyr88Ter)
c.*118+70C>G (n.*118+70C>G)
c.387C>G (p.Tyr129Ter)
c.279C>G (p.Tyr93Ter)
n.510C>G
c.315C>G (p.Tyr105Ter)
14g.91937062G=CA2155180501FBLN5c.*230C= (n.*230C=)
c.96C= (p.Tyr32=)
c.438C= (p.Tyr146=)
c.264C= (p.Tyr88=)
c.*118+70C= (n.*118+70C=)
c.387C= (p.Tyr129=)
c.279C= (p.Tyr93=)
n.510C=
c.315C= (p.Tyr105=)
14g.91937062G>TCA390639842FBLN5c.*230C>A (n.*230C>A)
c.96C>A (p.Tyr32Ter)
c.438C>A (p.Tyr146Ter)
c.264C>A (p.Tyr88Ter)
c.*118+70C>A (n.*118+70C>A)
c.387C>A (p.Tyr129Ter)
c.279C>A (p.Tyr93Ter)
n.510C>A
c.315C>A (p.Tyr105Ter)
14g.91937063T>ACA7312895FBLN5c.*229A>T (n.*229A>T)
c.95A>T (p.Tyr32Phe)
c.437A>T (p.Tyr146Phe)
c.263A>T (p.Tyr88Phe)
c.*118+69A>T (n.*118+69A>T)
c.386A>T (p.Tyr129Phe)
c.278A>T (p.Tyr93Phe)
n.509A>T
c.314A>T (p.Tyr105Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937063T>CCA7312894FBLN5c.*229A>G (n.*229A>G)
c.95A>G (p.Tyr32Cys)
c.437A>G (p.Tyr146Cys)
c.263A>G (p.Tyr88Cys)
c.*118+69A>G (n.*118+69A>G)
c.386A>G (p.Tyr129Cys)
c.278A>G (p.Tyr93Cys)
n.509A>G
c.314A>G (p.Tyr105Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937063T>GCA390639843FBLN5c.*229A>C (n.*229A>C)
c.95A>C (p.Tyr32Ser)
c.437A>C (p.Tyr146Ser)
c.263A>C (p.Tyr88Ser)
c.*118+69A>C (n.*118+69A>C)
c.386A>C (p.Tyr129Ser)
c.278A>C (p.Tyr93Ser)
n.509A>C
c.314A>C (p.Tyr105Ser)
 gnomAD v4
14g.91937063T=CA2155180506FBLN5c.*229A= (n.*229A=)
c.95A= (p.Tyr32=)
c.437A= (p.Tyr146=)
c.263A= (p.Tyr88=)
c.*118+69A= (n.*118+69A=)
c.386A= (p.Tyr129=)
c.278A= (p.Tyr93=)
n.509A=
c.314A= (p.Tyr105=)
14g.91937064A>CCA390639844FBLN5c.*228T>G (n.*228T>G)
c.94T>G (p.Tyr32Asp)
c.436T>G (p.Tyr146Asp)
c.262T>G (p.Tyr88Asp)
c.*118+68T>G (n.*118+68T>G)
c.385T>G (p.Tyr129Asp)
c.277T>G (p.Tyr93Asp)
n.508T>G
c.313T>G (p.Tyr105Asp)
14g.91937064A>GCA390639845FBLN5c.*228T>C (n.*228T>C)
c.94T>C (p.Tyr32His)
c.436T>C (p.Tyr146His)
c.262T>C (p.Tyr88His)
c.*118+68T>C (n.*118+68T>C)
c.385T>C (p.Tyr129His)
c.277T>C (p.Tyr93His)
n.508T>C
c.313T>C (p.Tyr105His)
14g.91937064A>TCA390639846FBLN5c.*228T>A (n.*228T>A)
c.94T>A (p.Tyr32Asn)
c.436T>A (p.Tyr146Asn)
c.262T>A (p.Tyr88Asn)
c.*118+68T>A (n.*118+68T>A)
c.385T>A (p.Tyr129Asn)
c.277T>A (p.Tyr93Asn)
n.508T>A
c.313T>A (p.Tyr105Asn)
14g.91937065G>ACA487830568FBLN5c.*227C>T (n.*227C>T)
c.93C>T (p.Pro31=)
c.435C>T (p.Pro145=)
c.261C>T (p.Pro87=)
c.*118+67C>T (n.*118+67C>T)
c.384C>T (p.Pro128=)
c.276C>T (p.Pro92=)
n.507C>T
c.312C>T (p.Pro104=)
 dbSNP gnomAD v4
14g.91937065G>CCA487830569FBLN5c.*227C>G (n.*227C>G)
c.93C>G (p.Pro31=)
c.435C>G (p.Pro145=)
c.261C>G (p.Pro87=)
c.*118+67C>G (n.*118+67C>G)
c.384C>G (p.Pro128=)
c.276C>G (p.Pro92=)
n.507C>G
c.312C>G (p.Pro104=)
14g.91937065G=CA2155180508FBLN5c.*227C= (n.*227C=)
c.93C= (p.Pro31=)
c.435C= (p.Pro145=)
c.261C= (p.Pro87=)
c.*118+67C= (n.*118+67C=)
c.384C= (p.Pro128=)
c.276C= (p.Pro92=)
n.507C=
c.312C= (p.Pro104=)
14g.91937065G>TCA487830570FBLN5c.*227C>A (n.*227C>A)
c.93C>A (p.Pro31=)
c.435C>A (p.Pro145=)
c.261C>A (p.Pro87=)
c.*118+67C>A (n.*118+67C>A)
c.384C>A (p.Pro128=)
c.276C>A (p.Pro92=)
n.507C>A
c.312C>A (p.Pro104=)
14g.91937069delCA2626162025FBLN5c.*227del (n.*227del)
c.93del (p.Tyr32ThrfsTer?)
c.435del (p.Tyr146ThrfsTer?)
c.261del (p.Tyr88ThrfsTer?)
c.*118+67del (n.*118+67del)
c.384del (p.Tyr129ThrfsTer?)
c.276del (p.Tyr93ThrfsTer?)
n.507del
c.312del (p.Tyr105ThrfsTer?)
 gnomAD v4
14g.91937066G>ACA390639847FBLN5c.*226C>T (n.*226C>T)
c.92C>T (p.Pro31Leu)
c.434C>T (p.Pro145Leu)
c.260C>T (p.Pro87Leu)
c.*118+66C>T (n.*118+66C>T)
c.383C>T (p.Pro128Leu)
c.275C>T (p.Pro92Leu)
n.506C>T
c.311C>T (p.Pro104Leu)
14g.91937066G>CCA7312896FBLN5c.*226C>G (n.*226C>G)
c.92C>G (p.Pro31Arg)
c.434C>G (p.Pro145Arg)
c.260C>G (p.Pro87Arg)
c.*118+66C>G (n.*118+66C>G)
c.383C>G (p.Pro128Arg)
c.275C>G (p.Pro92Arg)
n.506C>G
c.311C>G (p.Pro104Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937066G=CA2155180510FBLN5c.*226C= (n.*226C=)
c.92C= (p.Pro31=)
c.434C= (p.Pro145=)
c.260C= (p.Pro87=)
c.*118+66C= (n.*118+66C=)
c.383C= (p.Pro128=)
c.275C= (p.Pro92=)
n.506C=
c.311C= (p.Pro104=)
14g.91937066G>TCA390639848FBLN5c.*226C>A (n.*226C>A)
c.92C>A (p.Pro31His)
c.434C>A (p.Pro145His)
c.260C>A (p.Pro87His)
c.*118+66C>A (n.*118+66C>A)
c.383C>A (p.Pro128His)
c.275C>A (p.Pro92His)
n.506C>A
c.311C>A (p.Pro104His)
14g.91937067G>ACA213140FBLN5c.*225C>T (n.*225C>T)
c.91C>T (p.Pro31Ser)
c.433C>T (p.Pro145Ser)
c.259C>T (p.Pro87Ser)
c.*118+65C>T (n.*118+65C>T)
c.382C>T (p.Pro128Ser)
c.274C>T (p.Pro92Ser)
n.505C>T
c.310C>T (p.Pro104Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
14g.91937067G>CCA7312897FBLN5c.*225C>G (n.*225C>G)
c.91C>G (p.Pro31Ala)
c.433C>G (p.Pro145Ala)
c.259C>G (p.Pro87Ala)
c.*118+65C>G (n.*118+65C>G)
c.382C>G (p.Pro128Ala)
c.274C>G (p.Pro92Ala)
n.505C>G
c.310C>G (p.Pro104Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.91937067G=CA2155180512FBLN5c.*225C= (n.*225C=)
c.91C= (p.Pro31=)
c.433C= (p.Pro145=)
c.259C= (p.Pro87=)
c.*118+65C= (n.*118+65C=)
c.382C= (p.Pro128=)
c.274C= (p.Pro92=)
n.505C=
c.310C= (p.Pro104=)
14g.91937067G>TCA390639849FBLN5c.*225C>A (n.*225C>A)
c.91C>A (p.Pro31Thr)
c.433C>A (p.Pro145Thr)
c.259C>A (p.Pro87Thr)
c.*118+65C>A (n.*118+65C>A)
c.382C>A (p.Pro128Thr)
c.274C>A (p.Pro92Thr)
n.505C>A
c.310C>A (p.Pro104Thr)
14g.91937068G>ACA487830575FBLN5c.*224C>T (n.*224C>T)
c.90C>T (p.Thr30=)
c.432C>T (p.Thr144=)
c.258C>T (p.Thr86=)
c.*118+64C>T (n.*118+64C>T)
c.381C>T (p.Thr127=)
c.273C>T (p.Thr91=)
n.504C>T
c.309C>T (p.Thr103=)
 dbSNP gnomAD v4
14g.91937068G>CCA487830573FBLN5c.*224C>G (n.*224C>G)
c.90C>G (p.Thr30=)
c.432C>G (p.Thr144=)
c.258C>G (p.Thr86=)
c.*118+64C>G (n.*118+64C>G)
c.381C>G (p.Thr127=)
c.273C>G (p.Thr91=)
n.504C>G
c.309C>G (p.Thr103=)
14g.91937068G=CA2155180515FBLN5c.*224C= (n.*224C=)
c.90C= (p.Thr30=)
c.432C= (p.Thr144=)
c.258C= (p.Thr86=)
c.*118+64C= (n.*118+64C=)
c.381C= (p.Thr127=)
c.273C= (p.Thr91=)
n.504C=
c.309C= (p.Thr103=)
14g.91937068G>TCA7312898FBLN5c.*224C>A (n.*224C>A)
c.90C>A (p.Thr30=)
c.432C>A (p.Thr144=)
c.258C>A (p.Thr86=)
c.*118+64C>A (n.*118+64C>A)
c.381C>A (p.Thr127=)
c.273C>A (p.Thr91=)
n.504C>A
c.309C>A (p.Thr103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937069G>ACA390639850FBLN5c.*223C>T (n.*223C>T)
c.89C>T (p.Thr30Ile)
c.431C>T (p.Thr144Ile)
c.257C>T (p.Thr86Ile)
c.*118+63C>T (n.*118+63C>T)
c.380C>T (p.Thr127Ile)
c.272C>T (p.Thr91Ile)
n.503C>T
c.308C>T (p.Thr103Ile)
14g.91937069G>CCA390639851FBLN5c.*223C>G (n.*223C>G)
c.89C>G (p.Thr30Ser)
c.431C>G (p.Thr144Ser)
c.257C>G (p.Thr86Ser)
c.*118+63C>G (n.*118+63C>G)
c.380C>G (p.Thr127Ser)
c.272C>G (p.Thr91Ser)
n.503C>G
c.308C>G (p.Thr103Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91937069G=CA2155180518FBLN5c.*223C= (n.*223C=)
c.89C= (p.Thr30=)
c.431C= (p.Thr144=)
c.257C= (p.Thr86=)
c.*118+63C= (n.*118+63C=)
c.380C= (p.Thr127=)
c.272C= (p.Thr91=)
n.503C=
c.308C= (p.Thr103=)
14g.91937069G>TCA390639852FBLN5c.*223C>A (n.*223C>A)
c.89C>A (p.Thr30Asn)
c.431C>A (p.Thr144Asn)
c.257C>A (p.Thr86Asn)
c.*118+63C>A (n.*118+63C>A)
c.380C>A (p.Thr127Asn)
c.272C>A (p.Thr91Asn)
n.503C>A
c.308C>A (p.Thr103Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91937069_91937081delinsGTCGAGTAGGGGTCA2155180517FBLN5c.*211_*223delinsACCCCTACTCGAC (n.*211_*223delinsACCCCTACTCGAC)
c.77_89delinsACCCCTACTCGAC (p.Asn26=)
c.419_431delinsACCCCTACTCGAC (p.Asn140=)
c.245_257delinsACCCCTACTCGAC (p.Asn82=)
c.*118+51_*118+63delinsACCCCTACTCGAC (n.*118+51_*118+63delinsACCCCTACTCGAC)
c.368_380delinsACCCCTACTCGAC (p.Asn123=)
c.260_272delinsACCCCTACTCGAC (p.Asn87=)
n.491_503delinsACCCCTACTCGAC
c.296_308delinsACCCCTACTCGAC (p.Asn99=)
14g.91937070T>ACA265607667FBLN5c.*222A>T (n.*222A>T)
c.88A>T (p.Thr30Ser)
c.430A>T (p.Thr144Ser)
c.256A>T (p.Thr86Ser)
c.*118+62A>T (n.*118+62A>T)
c.379A>T (p.Thr127Ser)
c.271A>T (p.Thr91Ser)
n.502A>T
c.307A>T (p.Thr103Ser)
 dbSNP
14g.91937070T>CCA390639853FBLN5c.*222A>G (n.*222A>G)
c.88A>G (p.Thr30Ala)
c.430A>G (p.Thr144Ala)
c.256A>G (p.Thr86Ala)
c.*118+62A>G (n.*118+62A>G)
c.379A>G (p.Thr127Ala)
c.271A>G (p.Thr91Ala)
n.502A>G
c.307A>G (p.Thr103Ala)
14g.91937070T>GCA390639854FBLN5c.*222A>C (n.*222A>C)
c.88A>C (p.Thr30Pro)
c.430A>C (p.Thr144Pro)
c.256A>C (p.Thr86Pro)
c.*118+62A>C (n.*118+62A>C)
c.379A>C (p.Thr127Pro)
c.271A>C (p.Thr91Pro)
n.502A>C
c.307A>C (p.Thr103Pro)
14g.91937070T=CA2155180522FBLN5c.*222A= (n.*222A=)
c.88A= (p.Thr30=)
c.430A= (p.Thr144=)
c.256A= (p.Thr86=)
c.*118+62A= (n.*118+62A=)
c.379A= (p.Thr127=)
c.271A= (p.Thr91=)
n.502A=
c.307A= (p.Thr103=)
14g.91937080_91937091dupCA2626162029FBLN5c.*211_*222dup (n.*211_*222dup)
c.77_88dup (p.Ser29_Thr30insAsnProTyrSer)
c.419_430dup (p.Ser143_Thr144insAsnProTyrSer)
c.245_256dup (p.Ser85_Thr86insAsnProTyrSer)
c.*118+51_*118+62dup (n.*118+51_*118+62dup)
c.368_379dup (p.Ser126_Thr127insAsnProTyrSer)
c.260_271dup (p.Ser90_Thr91insAsnProTyrSer)
n.491_502dup
c.296_307dup (p.Ser102_Thr103insAsnProTyrSer)
 gnomAD v4
14g.91937080_91937091delCA7312899FBLN5c.*211_*222del (n.*211_*222del)
c.77_88del (p.Asn26_Ser29del)
c.419_430del (p.Asn140_Ser143del)
c.245_256del (p.Asn82_Ser85del)
c.*118+51_*118+62del (n.*118+51_*118+62del)
c.368_379del (p.Asn123_Ser126del)
c.260_271del (p.Asn87_Ser90del)
n.491_502del
c.296_307del (p.Asn99_Ser102del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937071C>ACA487830577FBLN5c.*221G>T (n.*221G>T)
c.87G>T (p.Ser29=)
c.429G>T (p.Ser143=)
c.255G>T (p.Ser85=)
c.*118+61G>T (n.*118+61G>T)
c.378G>T (p.Ser126=)
c.270G>T (p.Ser90=)
n.501G>T
c.306G>T (p.Ser102=)
 gnomAD v4
14g.91937071C=CA2155180524FBLN5c.*221G= (n.*221G=)
c.87G= (p.Ser29=)
c.429G= (p.Ser143=)
c.255G= (p.Ser85=)
c.*118+61G= (n.*118+61G=)
c.378G= (p.Ser126=)
c.270G= (p.Ser90=)
n.501G=
c.306G= (p.Ser102=)
14g.91937071C>GCA487830578FBLN5c.*221G>C (n.*221G>C)
c.87G>C (p.Ser29=)
c.429G>C (p.Ser143=)
c.255G>C (p.Ser85=)
c.*118+61G>C (n.*118+61G>C)
c.378G>C (p.Ser126=)
c.270G>C (p.Ser90=)
n.501G>C
c.306G>C (p.Ser102=)
14g.91937071C>TCA487830580FBLN5c.*221G>A (n.*221G>A)
c.87G>A (p.Ser29=)
c.429G>A (p.Ser143=)
c.255G>A (p.Ser85=)
c.*118+61G>A (n.*118+61G>A)
c.378G>A (p.Ser126=)
c.270G>A (p.Ser90=)
n.501G>A
c.306G>A (p.Ser102=)
 dbSNP gnomAD v4
14g.91937072G>ACA7312900FBLN5c.*220C>T (n.*220C>T)
c.86C>T (p.Ser29Leu)
c.428C>T (p.Ser143Leu)
c.254C>T (p.Ser85Leu)
c.*118+60C>T (n.*118+60C>T)
c.377C>T (p.Ser126Leu)
c.269C>T (p.Ser90Leu)
n.500C>T
c.305C>T (p.Ser102Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937072G>CCA390639855FBLN5c.*220C>G (n.*220C>G)
c.86C>G (p.Ser29Trp)
c.428C>G (p.Ser143Trp)
c.254C>G (p.Ser85Trp)
c.*118+60C>G (n.*118+60C>G)
c.377C>G (p.Ser126Trp)
c.269C>G (p.Ser90Trp)
n.500C>G
c.305C>G (p.Ser102Trp)
 ClinVar
14g.91937072G=CA2155180525FBLN5c.*220C= (n.*220C=)
c.86C= (p.Ser29=)
c.428C= (p.Ser143=)
c.254C= (p.Ser85=)
c.*118+60C= (n.*118+60C=)
c.377C= (p.Ser126=)
c.269C= (p.Ser90=)
n.500C=
c.305C= (p.Ser102=)
14g.91937072G>TCA390639856FBLN5c.*220C>A (n.*220C>A)
c.86C>A (p.Ser29Ter)
c.428C>A (p.Ser143Ter)
c.254C>A (p.Ser85Ter)
c.*118+60C>A (n.*118+60C>A)
c.377C>A (p.Ser126Ter)
c.269C>A (p.Ser90Ter)
n.500C>A
c.305C>A (p.Ser102Ter)
14g.91937073A>CCA390639857FBLN5c.*219T>G (n.*219T>G)
c.85T>G (p.Ser29Ala)
c.427T>G (p.Ser143Ala)
c.253T>G (p.Ser85Ala)
c.*118+59T>G (n.*118+59T>G)
c.376T>G (p.Ser126Ala)
c.268T>G (p.Ser90Ala)
n.499T>G
c.304T>G (p.Ser102Ala)
14g.91937073A>GCA390639858FBLN5c.*219T>C (n.*219T>C)
c.85T>C (p.Ser29Pro)
c.427T>C (p.Ser143Pro)
c.253T>C (p.Ser85Pro)
c.*118+59T>C (n.*118+59T>C)
c.376T>C (p.Ser126Pro)
c.268T>C (p.Ser90Pro)
n.499T>C
c.304T>C (p.Ser102Pro)
14g.91937073A>TCA390639859FBLN5c.*219T>A (n.*219T>A)
c.85T>A (p.Ser29Thr)
c.427T>A (p.Ser143Thr)
c.253T>A (p.Ser85Thr)
c.*118+59T>A (n.*118+59T>A)
c.376T>A (p.Ser126Thr)
c.268T>A (p.Ser90Thr)
n.499T>A
c.304T>A (p.Ser102Thr)
14g.91937074G>ACA487830587FBLN5c.*218C>T (n.*218C>T)
c.84C>T (p.Tyr28=)
c.426C>T (p.Tyr142=)
c.252C>T (p.Tyr84=)
c.*118+58C>T (n.*118+58C>T)
c.375C>T (p.Tyr125=)
c.267C>T (p.Tyr89=)
n.498C>T
c.303C>T (p.Tyr101=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91937074G>CCA390639860FBLN5c.*218C>G (n.*218C>G)
c.84C>G (p.Tyr28Ter)
c.426C>G (p.Tyr142Ter)
c.252C>G (p.Tyr84Ter)
c.*118+58C>G (n.*118+58C>G)
c.375C>G (p.Tyr125Ter)
c.267C>G (p.Tyr89Ter)
n.498C>G
c.303C>G (p.Tyr101Ter)
14g.91937074G=CA2155180527FBLN5c.*218C= (n.*218C=)
c.84C= (p.Tyr28=)
c.426C= (p.Tyr142=)
c.252C= (p.Tyr84=)
c.*118+58C= (n.*118+58C=)
c.375C= (p.Tyr125=)
c.267C= (p.Tyr89=)
n.498C=
c.303C= (p.Tyr101=)
14g.91937074G>TCA390639861FBLN5c.*218C>A (n.*218C>A)
c.84C>A (p.Tyr28Ter)
c.426C>A (p.Tyr142Ter)
c.252C>A (p.Tyr84Ter)
c.*118+58C>A (n.*118+58C>A)
c.375C>A (p.Tyr125Ter)
c.267C>A (p.Tyr89Ter)
n.498C>A
c.303C>A (p.Tyr101Ter)
14g.91937075T>ACA390639862FBLN5c.*217A>T (n.*217A>T)
c.83A>T (p.Tyr28Phe)
c.425A>T (p.Tyr142Phe)
c.251A>T (p.Tyr84Phe)
c.*118+57A>T (n.*118+57A>T)
c.374A>T (p.Tyr125Phe)
c.266A>T (p.Tyr89Phe)
n.497A>T
c.302A>T (p.Tyr101Phe)
 ClinVar gnomAD v4
14g.91937075T>CCA10641284FBLN5c.*217A>G (n.*217A>G)
c.83A>G (p.Tyr28Cys)
c.425A>G (p.Tyr142Cys)
c.251A>G (p.Tyr84Cys)
c.*118+57A>G (n.*118+57A>G)
c.374A>G (p.Tyr125Cys)
c.266A>G (p.Tyr89Cys)
n.497A>G
c.302A>G (p.Tyr101Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91937075T>GCA390639863FBLN5c.*217A>C (n.*217A>C)
c.83A>C (p.Tyr28Ser)
c.425A>C (p.Tyr142Ser)
c.251A>C (p.Tyr84Ser)
c.*118+57A>C (n.*118+57A>C)
c.374A>C (p.Tyr125Ser)
c.266A>C (p.Tyr89Ser)
n.497A>C
c.302A>C (p.Tyr101Ser)
14g.91937075T=CA2155180530FBLN5c.*217A= (n.*217A=)
c.83A= (p.Tyr28=)
c.425A= (p.Tyr142=)
c.251A= (p.Tyr84=)
c.*118+57A= (n.*118+57A=)
c.374A= (p.Tyr125=)
c.266A= (p.Tyr89=)
n.497A=
c.302A= (p.Tyr101=)
14g.91937076A=CA2155180532FBLN5c.*216T= (n.*216T=)
c.82T= (p.Tyr28=)
c.424T= (p.Tyr142=)
c.250T= (p.Tyr84=)
c.*118+56T= (n.*118+56T=)
c.373T= (p.Tyr125=)
c.265T= (p.Tyr89=)
n.496T=
c.301T= (p.Tyr101=)
14g.91937076A>CCA390639864FBLN5c.*216T>G (n.*216T>G)
c.82T>G (p.Tyr28Asp)
c.424T>G (p.Tyr142Asp)
c.250T>G (p.Tyr84Asp)
c.*118+56T>G (n.*118+56T>G)
c.373T>G (p.Tyr125Asp)
c.265T>G (p.Tyr89Asp)
n.496T>G
c.301T>G (p.Tyr101Asp)
14g.91937076A>GCA390639865FBLN5c.*216T>C (n.*216T>C)
c.82T>C (p.Tyr28His)
c.424T>C (p.Tyr142His)
c.250T>C (p.Tyr84His)
c.*118+56T>C (n.*118+56T>C)
c.373T>C (p.Tyr125His)
c.265T>C (p.Tyr89His)
n.496T>C
c.301T>C (p.Tyr101His)
 dbSNP gnomAD v2 gnomAD v4
14g.91937076A>TCA390639866FBLN5c.*216T>A (n.*216T>A)
c.82T>A (p.Tyr28Asn)
c.424T>A (p.Tyr142Asn)
c.250T>A (p.Tyr84Asn)
c.*118+56T>A (n.*118+56T>A)
c.373T>A (p.Tyr125Asn)
c.265T>A (p.Tyr89Asn)
n.496T>A
c.301T>A (p.Tyr101Asn)
14g.91937076_91937077delCA2626162030FBLN5c.*215_*216del (n.*215_*216del)
c.81_82del (p.Tyr28LeufsTer?)
c.423_424del (p.Tyr142LeufsTer?)
c.249_250del (p.Tyr84LeufsTer?)
c.*118+55_*118+56del (n.*118+55_*118+56del)
c.372_373del (p.Tyr125LeufsTer?)
c.264_265del (p.Tyr89LeufsTer?)
n.495_496del
c.300_301del (p.Tyr101LeufsTer?)
 gnomAD v4
14g.91937077G>ACA487830589FBLN5c.*215C>T (n.*215C>T)
c.81C>T (p.Pro27=)
c.423C>T (p.Pro141=)
c.249C>T (p.Pro83=)
c.*118+55C>T (n.*118+55C>T)
c.372C>T (p.Pro124=)
c.264C>T (p.Pro88=)
n.495C>T
c.300C>T (p.Pro100=)
14g.91937077G>CCA487830590FBLN5c.*215C>G (n.*215C>G)
c.81C>G (p.Pro27=)
c.423C>G (p.Pro141=)
c.249C>G (p.Pro83=)
c.*118+55C>G (n.*118+55C>G)
c.372C>G (p.Pro124=)
c.264C>G (p.Pro88=)
n.495C>G
c.300C>G (p.Pro100=)
14g.91937077G>TCA487830591FBLN5c.*215C>A (n.*215C>A)
c.81C>A (p.Pro27=)
c.423C>A (p.Pro141=)
c.249C>A (p.Pro83=)
c.*118+55C>A (n.*118+55C>A)
c.372C>A (p.Pro124=)
c.264C>A (p.Pro88=)
n.495C>A
c.300C>A (p.Pro100=)
14g.91937078G>ACA390639867FBLN5c.*214C>T (n.*214C>T)
c.80C>T (p.Pro27Leu)
c.422C>T (p.Pro141Leu)
c.248C>T (p.Pro83Leu)
c.*118+54C>T (n.*118+54C>T)
c.371C>T (p.Pro124Leu)
c.263C>T (p.Pro88Leu)
n.494C>T
c.299C>T (p.Pro100Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91937078G>CCA7312901FBLN5c.*214C>G (n.*214C>G)
c.80C>G (p.Pro27Arg)
c.422C>G (p.Pro141Arg)
c.248C>G (p.Pro83Arg)
c.*118+54C>G (n.*118+54C>G)
c.371C>G (p.Pro124Arg)
c.263C>G (p.Pro88Arg)
n.494C>G
c.299C>G (p.Pro100Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937078G=CA2155180535FBLN5c.*214C= (n.*214C=)
c.80C= (p.Pro27=)
c.422C= (p.Pro141=)
c.248C= (p.Pro83=)
c.*118+54C= (n.*118+54C=)
c.371C= (p.Pro124=)
c.263C= (p.Pro88=)
n.494C=
c.299C= (p.Pro100=)
14g.91937078G>TCA390639868FBLN5c.*214C>A (n.*214C>A)
c.80C>A (p.Pro27His)
c.422C>A (p.Pro141His)
c.248C>A (p.Pro83His)
c.*118+54C>A (n.*118+54C>A)
c.371C>A (p.Pro124His)
c.263C>A (p.Pro88His)
n.494C>A
c.299C>A (p.Pro100His)
14g.91937079G>ACA390639869FBLN5c.*213C>T (n.*213C>T)
c.79C>T (p.Pro27Ser)
c.421C>T (p.Pro141Ser)
c.247C>T (p.Pro83Ser)
c.*118+53C>T (n.*118+53C>T)
c.370C>T (p.Pro124Ser)
c.262C>T (p.Pro88Ser)
n.493C>T
c.298C>T (p.Pro100Ser)
14g.91937079G>CCA390639870FBLN5c.*213C>G (n.*213C>G)
c.79C>G (p.Pro27Ala)
c.421C>G (p.Pro141Ala)
c.247C>G (p.Pro83Ala)
c.*118+53C>G (n.*118+53C>G)
c.370C>G (p.Pro124Ala)
c.262C>G (p.Pro88Ala)
n.493C>G
c.298C>G (p.Pro100Ala)
14g.91937079G>TCA390639871FBLN5c.*213C>A (n.*213C>A)
c.79C>A (p.Pro27Thr)
c.421C>A (p.Pro141Thr)
c.247C>A (p.Pro83Thr)
c.*118+53C>A (n.*118+53C>A)
c.370C>A (p.Pro124Thr)
c.262C>A (p.Pro88Thr)
n.493C>A
c.298C>A (p.Pro100Thr)
14g.91937080_91937081insGTCGAGTAGTGGCA616112900FBLN5c.*213_*214insACTACTCGACCC (n.*213_*214insACTACTCGACCC)
c.79_80insACTACTCGACCC (p.Asn26_Pro27insHisTyrSerThr)
c.421_422insACTACTCGACCC (p.Asn140_Pro141insHisTyrSerThr)
c.247_248insACTACTCGACCC (p.Asn82_Pro83insHisTyrSerThr)
c.*118+53_*118+54insACTACTCGACCC (n.*118+53_*118+54insACTACTCGACCC)
c.370_371insACTACTCGACCC (p.Asn123_Pro124insHisTyrSerThr)
c.262_263insACTACTCGACCC (p.Asn87_Pro88insHisTyrSerThr)
n.493_494insACTACTCGACCC
c.298_299insACTACTCGACCC (p.Asn99_Pro100insHisTyrSerThr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91937080G>ACA487830595FBLN5c.*212C>T (n.*212C>T)
c.78C>T (p.Asn26=)
c.420C>T (p.Asn140=)
c.246C>T (p.Asn82=)
c.*118+52C>T (n.*118+52C>T)
c.369C>T (p.Asn123=)
c.261C>T (p.Asn87=)
n.492C>T
c.297C>T (p.Asn99=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.91937080G>CCA390639872FBLN5c.*212C>G (n.*212C>G)
c.78C>G (p.Asn26Lys)
c.420C>G (p.Asn140Lys)
c.246C>G (p.Asn82Lys)
c.*118+52C>G (n.*118+52C>G)
c.369C>G (p.Asn123Lys)
c.261C>G (p.Asn87Lys)
n.492C>G
c.297C>G (p.Asn99Lys)
14g.91937080G=CA2155180538FBLN5c.*212C= (n.*212C=)
c.78C= (p.Asn26=)
c.420C= (p.Asn140=)
c.246C= (p.Asn82=)
c.*118+52C= (n.*118+52C=)
c.369C= (p.Asn123=)
c.261C= (p.Asn87=)
n.492C=
c.297C= (p.Asn99=)
14g.91937080G>TCA390639873FBLN5c.*212C>A (n.*212C>A)
c.78C>A (p.Asn26Lys)
c.420C>A (p.Asn140Lys)
c.246C>A (p.Asn82Lys)
c.*118+52C>A (n.*118+52C>A)
c.369C>A (p.Asn123Lys)
c.261C>A (p.Asn87Lys)
n.492C>A
c.297C>A (p.Asn99Lys)
14g.91937081T>ACA390639874FBLN5c.*211A>T (n.*211A>T)
c.77A>T (p.Asn26Ile)
c.419A>T (p.Asn140Ile)
c.245A>T (p.Asn82Ile)
c.*118+51A>T (n.*118+51A>T)
c.368A>T (p.Asn123Ile)
c.260A>T (p.Asn87Ile)
n.491A>T
c.296A>T (p.Asn99Ile)
14g.91937081T>CCA390639875FBLN5c.*211A>G (n.*211A>G)
c.77A>G (p.Asn26Ser)
c.419A>G (p.Asn140Ser)
c.245A>G (p.Asn82Ser)
c.*118+51A>G (n.*118+51A>G)
c.368A>G (p.Asn123Ser)
c.260A>G (p.Asn87Ser)
n.491A>G
c.296A>G (p.Asn99Ser)
14g.91937081T>GCA7312902FBLN5c.*211A>C (n.*211A>C)
c.77A>C (p.Asn26Thr)
c.419A>C (p.Asn140Thr)
c.245A>C (p.Asn82Thr)
c.*118+51A>C (n.*118+51A>C)
c.368A>C (p.Asn123Thr)
c.260A>C (p.Asn87Thr)
n.491A>C
c.296A>C (p.Asn99Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937081T=CA2155180541FBLN5c.*211A= (n.*211A=)
c.77A= (p.Asn26=)
c.419A= (p.Asn140=)
c.245A= (p.Asn82=)
c.*118+51A= (n.*118+51A=)
c.368A= (p.Asn123=)
c.260A= (p.Asn87=)
n.491A=
c.296A= (p.Asn99=)
14g.91937082T>ACA390639876FBLN5c.*210A>T (n.*210A>T)
c.76A>T (p.Asn26Tyr)
c.418A>T (p.Asn140Tyr)
c.244A>T (p.Asn82Tyr)
c.*118+50A>T (n.*118+50A>T)
c.367A>T (p.Asn123Tyr)
c.259A>T (p.Asn87Tyr)
n.490A>T
c.295A>T (p.Asn99Tyr)
14g.91937082T>CCA390639877FBLN5c.*210A>G (n.*210A>G)
c.76A>G (p.Asn26Asp)
c.418A>G (p.Asn140Asp)
c.244A>G (p.Asn82Asp)
c.*118+50A>G (n.*118+50A>G)
c.367A>G (p.Asn123Asp)
c.259A>G (p.Asn87Asp)
n.490A>G
c.295A>G (p.Asn99Asp)
14g.91937082T>GCA390639878FBLN5c.*210A>C (n.*210A>C)
c.76A>C (p.Asn26His)
c.418A>C (p.Asn140His)
c.244A>C (p.Asn82His)
c.*118+50A>C (n.*118+50A>C)
c.367A>C (p.Asn123His)
c.259A>C (p.Asn87His)
n.490A>C
c.295A>C (p.Asn99His)
14g.91937083C>ACA487830597FBLN5c.*209G>T (n.*209G>T)
c.75G>T (p.Ser25=)
c.417G>T (p.Ser139=)
c.243G>T (p.Ser81=)
c.*118+49G>T (n.*118+49G>T)
c.366G>T (p.Ser122=)
c.258G>T (p.Ser86=)
n.489G>T
c.294G>T (p.Ser98=)
 gnomAD v4
14g.91937083C=CA2155180543FBLN5c.*209G= (n.*209G=)
c.75G= (p.Ser25=)
c.417G= (p.Ser139=)
c.243G= (p.Ser81=)
c.*118+49G= (n.*118+49G=)
c.366G= (p.Ser122=)
c.258G= (p.Ser86=)
n.489G=
c.294G= (p.Ser98=)
14g.91937083C>GCA487830599FBLN5c.*209G>C (n.*209G>C)
c.75G>C (p.Ser25=)
c.417G>C (p.Ser139=)
c.243G>C (p.Ser81=)
c.*118+49G>C (n.*118+49G>C)
c.366G>C (p.Ser122=)
c.258G>C (p.Ser86=)
n.489G>C
c.294G>C (p.Ser98=)
14g.91937083C>TCA7312903FBLN5c.*209G>A (n.*209G>A)
c.75G>A (p.Ser25=)
c.417G>A (p.Ser139=)
c.243G>A (p.Ser81=)
c.*118+49G>A (n.*118+49G>A)
c.366G>A (p.Ser122=)
c.258G>A (p.Ser86=)
n.489G>A
c.294G>A (p.Ser98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937084G>ACA390639881FBLN5c.*208C>T (n.*208C>T)
c.74C>T (p.Ser25Leu)
c.416C>T (p.Ser139Leu)
c.242C>T (p.Ser81Leu)
c.*118+48C>T (n.*118+48C>T)
c.365C>T (p.Ser122Leu)
c.257C>T (p.Ser86Leu)
n.488C>T
c.293C>T (p.Ser98Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.91937084G>CCA390639879FBLN5c.*208C>G (n.*208C>G)
c.74C>G (p.Ser25Trp)
c.416C>G (p.Ser139Trp)
c.242C>G (p.Ser81Trp)
c.*118+48C>G (n.*118+48C>G)
c.365C>G (p.Ser122Trp)
c.257C>G (p.Ser86Trp)
n.488C>G
c.293C>G (p.Ser98Trp)
 gnomAD v4
14g.91937084G=CA2155180545FBLN5c.*208C= (n.*208C=)
c.74C= (p.Ser25=)
c.416C= (p.Ser139=)
c.242C= (p.Ser81=)
c.*118+48C= (n.*118+48C=)
c.365C= (p.Ser122=)
c.257C= (p.Ser86=)
n.488C=
c.293C= (p.Ser98=)
14g.91937084G>TCA390639880FBLN5c.*208C>A (n.*208C>A)
c.74C>A (p.Ser25Ter)
c.416C>A (p.Ser139Ter)
c.242C>A (p.Ser81Ter)
c.*118+48C>A (n.*118+48C>A)
c.365C>A (p.Ser122Ter)
c.257C>A (p.Ser86Ter)
n.488C>A
c.293C>A (p.Ser98Ter)
 gnomAD v4
14g.91937085A=CA2155180547FBLN5c.*207T= (n.*207T=)
c.73T= (p.Ser25=)
c.415T= (p.Ser139=)
c.241T= (p.Ser81=)
c.*118+47T= (n.*118+47T=)
c.364T= (p.Ser122=)
c.256T= (p.Ser86=)
n.487T=
c.292T= (p.Ser98=)
14g.91937085A>CCA390639882FBLN5c.*207T>G (n.*207T>G)
c.73T>G (p.Ser25Ala)
c.415T>G (p.Ser139Ala)
c.241T>G (p.Ser81Ala)
c.*118+47T>G (n.*118+47T>G)
c.364T>G (p.Ser122Ala)
c.256T>G (p.Ser86Ala)
n.487T>G
c.292T>G (p.Ser98Ala)
14g.91937085A>GCA390639883FBLN5c.*207T>C (n.*207T>C)
c.73T>C (p.Ser25Pro)
c.415T>C (p.Ser139Pro)
c.241T>C (p.Ser81Pro)
c.*118+47T>C (n.*118+47T>C)
c.364T>C (p.Ser122Pro)
c.256T>C (p.Ser86Pro)
n.487T>C
c.292T>C (p.Ser98Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91937085A>TCA390639884FBLN5c.*207T>A (n.*207T>A)
c.73T>A (p.Ser25Thr)
c.415T>A (p.Ser139Thr)
c.241T>A (p.Ser81Thr)
c.*118+47T>A (n.*118+47T>A)
c.364T>A (p.Ser122Thr)
c.256T>A (p.Ser86Thr)
n.487T>A
c.292T>A (p.Ser98Thr)
14g.91937086G>ACA487830600FBLN5c.*206C>T (n.*206C>T)
c.72C>T (p.Tyr24=)
c.414C>T (p.Tyr138=)
c.240C>T (p.Tyr80=)
c.*118+46C>T (n.*118+46C>T)
c.363C>T (p.Tyr121=)
c.255C>T (p.Tyr85=)
n.486C>T
c.291C>T (p.Tyr97=)
 dbSNP gnomAD v2 gnomAD v4
14g.91937086G>CCA390639885FBLN5c.*206C>G (n.*206C>G)
c.72C>G (p.Tyr24Ter)
c.414C>G (p.Tyr138Ter)
c.240C>G (p.Tyr80Ter)
c.*118+46C>G (n.*118+46C>G)
c.363C>G (p.Tyr121Ter)
c.255C>G (p.Tyr85Ter)
n.486C>G
c.291C>G (p.Tyr97Ter)
14g.91937086G=CA2155180549FBLN5c.*206C= (n.*206C=)
c.72C= (p.Tyr24=)
c.414C= (p.Tyr138=)
c.240C= (p.Tyr80=)
c.*118+46C= (n.*118+46C=)
c.363C= (p.Tyr121=)
c.255C= (p.Tyr85=)
n.486C=
c.291C= (p.Tyr97=)
14g.91937086G>TCA390639886FBLN5c.*206C>A (n.*206C>A)
c.72C>A (p.Tyr24Ter)
c.414C>A (p.Tyr138Ter)
c.240C>A (p.Tyr80Ter)
c.*118+46C>A (n.*118+46C>A)
c.363C>A (p.Tyr121Ter)
c.255C>A (p.Tyr85Ter)
n.486C>A
c.291C>A (p.Tyr97Ter)
14g.91937087T>ACA390639887FBLN5c.*205A>T (n.*205A>T)
c.71A>T (p.Tyr24Phe)
c.413A>T (p.Tyr138Phe)
c.239A>T (p.Tyr80Phe)
c.*118+45A>T (n.*118+45A>T)
c.362A>T (p.Tyr121Phe)
c.254A>T (p.Tyr85Phe)
n.485A>T
c.290A>T (p.Tyr97Phe)
14g.91937087T>CCA390639889FBLN5c.*205A>G (n.*205A>G)
c.71A>G (p.Tyr24Cys)
c.413A>G (p.Tyr138Cys)
c.239A>G (p.Tyr80Cys)
c.*118+45A>G (n.*118+45A>G)
c.362A>G (p.Tyr121Cys)
c.254A>G (p.Tyr85Cys)
n.485A>G
c.290A>G (p.Tyr97Cys)
 gnomAD v4
14g.91937087T>GCA390639888FBLN5c.*205A>C (n.*205A>C)
c.71A>C (p.Tyr24Ser)
c.413A>C (p.Tyr138Ser)
c.239A>C (p.Tyr80Ser)
c.*118+45A>C (n.*118+45A>C)
c.362A>C (p.Tyr121Ser)
c.254A>C (p.Tyr85Ser)
n.485A>C
c.290A>C (p.Tyr97Ser)
14g.91937088A=CA2155180551FBLN5c.*204T= (n.*204T=)
c.70T= (p.Tyr24=)
c.412T= (p.Tyr138=)
c.238T= (p.Tyr80=)
c.*118+44T= (n.*118+44T=)
c.361T= (p.Tyr121=)
c.253T= (p.Tyr85=)
n.484T=
c.289T= (p.Tyr97=)
14g.91937088A>CCA390639890FBLN5c.*204T>G (n.*204T>G)
c.70T>G (p.Tyr24Asp)
c.412T>G (p.Tyr138Asp)
c.238T>G (p.Tyr80Asp)
c.*118+44T>G (n.*118+44T>G)
c.361T>G (p.Tyr121Asp)
c.253T>G (p.Tyr85Asp)
n.484T>G
c.289T>G (p.Tyr97Asp)
14g.91937088A>GCA7312904FBLN5c.*204T>C (n.*204T>C)
c.70T>C (p.Tyr24His)
c.412T>C (p.Tyr138His)
c.238T>C (p.Tyr80His)
c.*118+44T>C (n.*118+44T>C)
c.361T>C (p.Tyr121His)
c.253T>C (p.Tyr85His)
n.484T>C
c.289T>C (p.Tyr97His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937088A>TCA390639891FBLN5c.*204T>A (n.*204T>A)
c.70T>A (p.Tyr24Asn)
c.412T>A (p.Tyr138Asn)
c.238T>A (p.Tyr80Asn)
c.*118+44T>A (n.*118+44T>A)
c.361T>A (p.Tyr121Asn)
c.253T>A (p.Tyr85Asn)
n.484T>A
c.289T>A (p.Tyr97Asn)
14g.91937089G>ACA487830602FBLN5c.*203C>T (n.*203C>T)
c.69C>T (p.Pro23=)
c.411C>T (p.Pro137=)
c.237C>T (p.Pro79=)
c.*118+43C>T (n.*118+43C>T)
c.360C>T (p.Pro120=)
c.252C>T (p.Pro84=)
n.483C>T
c.288C>T (p.Pro96=)
14g.91937089G>CCA487830604FBLN5c.*203C>G (n.*203C>G)
c.69C>G (p.Pro23=)
c.411C>G (p.Pro137=)
c.237C>G (p.Pro79=)
c.*118+43C>G (n.*118+43C>G)
c.360C>G (p.Pro120=)
c.252C>G (p.Pro84=)
n.483C>G
c.288C>G (p.Pro96=)
 dbSNP gnomAD v3 gnomAD v4
14g.91937089G=CA2155180552FBLN5c.*203C= (n.*203C=)
c.69C= (p.Pro23=)
c.411C= (p.Pro137=)
c.237C= (p.Pro79=)
c.*118+43C= (n.*118+43C=)
c.360C= (p.Pro120=)
c.252C= (p.Pro84=)
n.483C=
c.288C= (p.Pro96=)
14g.91937089G>TCA487830607FBLN5c.*203C>A (n.*203C>A)
c.69C>A (p.Pro23=)
c.411C>A (p.Pro137=)
c.237C>A (p.Pro79=)
c.*118+43C>A (n.*118+43C>A)
c.360C>A (p.Pro120=)
c.252C>A (p.Pro84=)
n.483C>A
c.288C>A (p.Pro96=)
14g.91937090G>ACA390639892FBLN5c.*202C>T (n.*202C>T)
c.68C>T (p.Pro23Leu)
c.410C>T (p.Pro137Leu)
c.236C>T (p.Pro79Leu)
c.*118+42C>T (n.*118+42C>T)
c.359C>T (p.Pro120Leu)
c.251C>T (p.Pro84Leu)
n.482C>T
c.287C>T (p.Pro96Leu)
14g.91937090G>CCA390639893FBLN5c.*202C>G (n.*202C>G)
c.68C>G (p.Pro23Arg)
c.410C>G (p.Pro137Arg)
c.236C>G (p.Pro79Arg)
c.*118+42C>G (n.*118+42C>G)
c.359C>G (p.Pro120Arg)
c.251C>G (p.Pro84Arg)
n.482C>G
c.287C>G (p.Pro96Arg)
14g.91937090G>TCA390639894FBLN5c.*202C>A (n.*202C>A)
c.68C>A (p.Pro23His)
c.410C>A (p.Pro137His)
c.236C>A (p.Pro79His)
c.*118+42C>A (n.*118+42C>A)
c.359C>A (p.Pro120His)
c.251C>A (p.Pro84His)
n.482C>A
c.287C>A (p.Pro96His)
14g.91937091G>ACA390639895FBLN5c.*201C>T (n.*201C>T)
c.67C>T (p.Pro23Ser)
c.409C>T (p.Pro137Ser)
c.235C>T (p.Pro79Ser)
c.*118+41C>T (n.*118+41C>T)
c.358C>T (p.Pro120Ser)
c.250C>T (p.Pro84Ser)
n.481C>T
c.286C>T (p.Pro96Ser)
14g.91937091G>CCA390639896FBLN5c.*201C>G (n.*201C>G)
c.67C>G (p.Pro23Ala)
c.409C>G (p.Pro137Ala)
c.235C>G (p.Pro79Ala)
c.*118+41C>G (n.*118+41C>G)
c.358C>G (p.Pro120Ala)
c.250C>G (p.Pro84Ala)
n.481C>G
c.286C>G (p.Pro96Ala)
14g.91937091G>TCA390639897FBLN5c.*201C>A (n.*201C>A)
c.67C>A (p.Pro23Thr)
c.409C>A (p.Pro137Thr)
c.235C>A (p.Pro79Thr)
c.*118+41C>A (n.*118+41C>A)
c.358C>A (p.Pro120Thr)
c.250C>A (p.Pro84Thr)
n.481C>A
c.286C>A (p.Pro96Thr)
14g.91937092C>ACA487830609FBLN5c.*200G>T (n.*200G>T)
c.66G>T (p.Gly22=)
c.408G>T (p.Gly136=)
c.234G>T (p.Gly78=)
c.*118+40G>T (n.*118+40G>T)
c.357G>T (p.Gly119=)
c.249G>T (p.Gly83=)
n.480G>T
c.285G>T (p.Gly95=)
14g.91937092C>GCA487830610FBLN5c.*200G>C (n.*200G>C)
c.66G>C (p.Gly22=)
c.408G>C (p.Gly136=)
c.234G>C (p.Gly78=)
c.*118+40G>C (n.*118+40G>C)
c.357G>C (p.Gly119=)
c.249G>C (p.Gly83=)
n.480G>C
c.285G>C (p.Gly95=)
14g.91937092C>TCA487830611FBLN5c.*200G>A (n.*200G>A)
c.66G>A (p.Gly22=)
c.408G>A (p.Gly136=)
c.234G>A (p.Gly78=)
c.*118+40G>A (n.*118+40G>A)
c.357G>A (p.Gly119=)
c.249G>A (p.Gly83=)
n.480G>A
c.285G>A (p.Gly95=)
 gnomAD v4
14g.91937093C>ACA390639898FBLN5c.*199G>T (n.*199G>T)
c.65G>T (p.Gly22Val)
c.407G>T (p.Gly136Val)
c.233G>T (p.Gly78Val)
c.*118+39G>T (n.*118+39G>T)
c.356G>T (p.Gly119Val)
c.248G>T (p.Gly83Val)
n.479G>T
c.284G>T (p.Gly95Val)
14g.91937093C>GCA390639899FBLN5c.*199G>C (n.*199G>C)
c.65G>C (p.Gly22Ala)
c.407G>C (p.Gly136Ala)
c.233G>C (p.Gly78Ala)
c.*118+39G>C (n.*118+39G>C)
c.356G>C (p.Gly119Ala)
c.248G>C (p.Gly83Ala)
n.479G>C
c.284G>C (p.Gly95Ala)
14g.91937093C>TCA390639900FBLN5c.*199G>A (n.*199G>A)
c.65G>A (p.Gly22Glu)
c.407G>A (p.Gly136Glu)
c.233G>A (p.Gly78Glu)
c.*118+39G>A (n.*118+39G>A)
c.356G>A (p.Gly119Glu)
c.248G>A (p.Gly83Glu)
n.479G>A
c.284G>A (p.Gly95Glu)
14g.91937094C>ACA390639901FBLN5c.*198G>T (n.*198G>T)
c.64G>T (p.Gly22Trp)
c.406G>T (p.Gly136Trp)
c.232G>T (p.Gly78Trp)
c.*118+38G>T (n.*118+38G>T)
c.355G>T (p.Gly119Trp)
c.247G>T (p.Gly83Trp)
n.478G>T
c.283G>T (p.Gly95Trp)
14g.91937094C>GCA390639903FBLN5c.*198G>C (n.*198G>C)
c.64G>C (p.Gly22Arg)
c.406G>C (p.Gly136Arg)
c.232G>C (p.Gly78Arg)
c.*118+38G>C (n.*118+38G>C)
c.355G>C (p.Gly119Arg)
c.247G>C (p.Gly83Arg)
n.478G>C
c.283G>C (p.Gly95Arg)
 gnomAD v4
14g.91937094C>TCA390639902FBLN5c.*198G>A (n.*198G>A)
c.64G>A (p.Gly22Arg)
c.406G>A (p.Gly136Arg)
c.232G>A (p.Gly78Arg)
c.*118+38G>A (n.*118+38G>A)
c.355G>A (p.Gly119Arg)
c.247G>A (p.Gly83Arg)
n.478G>A
c.283G>A (p.Gly95Arg)
14g.91937095T>ACA487830613FBLN5c.*197A>T (n.*197A>T)
c.63A>T (p.Arg21=)
c.405A>T (p.Arg135=)
c.231A>T (p.Arg77=)
c.*118+37A>T (n.*118+37A>T)
c.354A>T (p.Arg118=)
c.246A>T (p.Arg82=)
n.477A>T
c.282A>T (p.Arg94=)
14g.91937095T>CCA487830616FBLN5c.*197A>G (n.*197A>G)
c.63A>G (p.Arg21=)
c.405A>G (p.Arg135=)
c.231A>G (p.Arg77=)
c.*118+37A>G (n.*118+37A>G)
c.354A>G (p.Arg118=)
c.246A>G (p.Arg82=)
n.477A>G
c.282A>G (p.Arg94=)
14g.91937095T>GCA487830614FBLN5c.*197A>C (n.*197A>C)
c.63A>C (p.Arg21=)
c.405A>C (p.Arg135=)
c.231A>C (p.Arg77=)
c.*118+37A>C (n.*118+37A>C)
c.354A>C (p.Arg118=)
c.246A>C (p.Arg82=)
n.477A>C
c.282A>C (p.Arg94=)
14g.91937096_91937099dupCA2626162031FBLN5c.*194_*197dup (n.*194_*197dup)
c.60_63dup (p.Gly22SerfsTer?)
c.402_405dup (p.Gly136SerfsTer?)
c.228_231dup (p.Gly78SerfsTer?)
c.*118+34_*118+37dup (n.*118+34_*118+37dup)
c.351_354dup (p.Gly119SerfsTer?)
c.243_246dup (p.Gly83SerfsTer?)
n.474_477dup
c.279_282dup (p.Gly95SerfsTer?)
 gnomAD v4
14g.91937096C>ACA390639904FBLN5c.*196G>T (n.*196G>T)
c.62G>T (p.Arg21Leu)
c.404G>T (p.Arg135Leu)
c.230G>T (p.Arg77Leu)
c.*118+36G>T (n.*118+36G>T)
c.353G>T (p.Arg118Leu)
c.245G>T (p.Arg82Leu)
n.476G>T
c.281G>T (p.Arg94Leu)
 gnomAD v4
14g.91937096C=CA2155180554FBLN5c.*196G= (n.*196G=)
c.62G= (p.Arg21=)
c.404G= (p.Arg135=)
c.230G= (p.Arg77=)
c.*118+36G= (n.*118+36G=)
c.353G= (p.Arg118=)
c.245G= (p.Arg82=)
n.476G=
c.281G= (p.Arg94=)
14g.91937096C>GCA390639905FBLN5c.*196G>C (n.*196G>C)
c.62G>C (p.Arg21Pro)
c.404G>C (p.Arg135Pro)
c.230G>C (p.Arg77Pro)
c.*118+36G>C (n.*118+36G>C)
c.353G>C (p.Arg118Pro)
c.245G>C (p.Arg82Pro)
n.476G>C
c.281G>C (p.Arg94Pro)
 dbSNP gnomAD v4
14g.91937096C>TCA265607687FBLN5c.*196G>A (n.*196G>A)
c.62G>A (p.Arg21Gln)
c.404G>A (p.Arg135Gln)
c.230G>A (p.Arg77Gln)
c.*118+36G>A (n.*118+36G>A)
c.353G>A (p.Arg118Gln)
c.245G>A (p.Arg82Gln)
n.476G>A
c.281G>A (p.Arg94Gln)
 dbSNP gnomAD v4 COSMIC
14g.91937097G>ACA390639906FBLN5c.*195C>T (n.*195C>T)
c.61C>T (p.Arg21Ter)
c.403C>T (p.Arg135Ter)
c.229C>T (p.Arg77Ter)
c.*118+35C>T (n.*118+35C>T)
c.352C>T (p.Arg118Ter)
c.244C>T (p.Arg82Ter)
n.475C>T
c.280C>T (p.Arg94Ter)
 ClinVar dbSNP COSMIC
14g.91937097G>CCA7312905FBLN5c.*195C>G (n.*195C>G)
c.61C>G (p.Arg21Gly)
c.403C>G (p.Arg135Gly)
c.229C>G (p.Arg77Gly)
c.*118+35C>G (n.*118+35C>G)
c.352C>G (p.Arg118Gly)
c.244C>G (p.Arg82Gly)
n.475C>G
c.280C>G (p.Arg94Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937097G=CA2155180556FBLN5c.*195C= (n.*195C=)
c.61C= (p.Arg21=)
c.403C= (p.Arg135=)
c.229C= (p.Arg77=)
c.*118+35C= (n.*118+35C=)
c.352C= (p.Arg118=)
c.244C= (p.Arg82=)
n.475C=
c.280C= (p.Arg94=)
14g.91937097G>TCA487830618FBLN5c.*195C>A (n.*195C>A)
c.61C>A (p.Arg21=)
c.403C>A (p.Arg135=)
c.229C>A (p.Arg77=)
c.*118+35C>A (n.*118+35C>A)
c.352C>A (p.Arg118=)
c.244C>A (p.Arg82=)
n.475C>A
c.280C>A (p.Arg94=)
 ClinVar gnomAD v4
14g.91937098A>CCA390639907FBLN5c.*194T>G (n.*194T>G)
c.60T>G (p.Tyr20Ter)
c.402T>G (p.Tyr134Ter)
c.228T>G (p.Tyr76Ter)
c.*118+34T>G (n.*118+34T>G)
c.351T>G (p.Tyr117Ter)
c.243T>G (p.Tyr81Ter)
n.474T>G
c.279T>G (p.Tyr93Ter)
14g.91937098A>GCA487830620FBLN5c.*194T>C (n.*194T>C)
c.60T>C (p.Tyr20=)
c.402T>C (p.Tyr134=)
c.228T>C (p.Tyr76=)
c.*118+34T>C (n.*118+34T>C)
c.351T>C (p.Tyr117=)
c.243T>C (p.Tyr81=)
n.474T>C
c.279T>C (p.Tyr93=)
 gnomAD v4
14g.91937098A>TCA390639908FBLN5c.*194T>A (n.*194T>A)
c.60T>A (p.Tyr20Ter)
c.402T>A (p.Tyr134Ter)
c.228T>A (p.Tyr76Ter)
c.*118+34T>A (n.*118+34T>A)
c.351T>A (p.Tyr117Ter)
c.243T>A (p.Tyr81Ter)
n.474T>A
c.279T>A (p.Tyr93Ter)
14g.91937099T>ACA390639909FBLN5c.*193A>T (n.*193A>T)
c.59A>T (p.Tyr20Phe)
c.401A>T (p.Tyr134Phe)
c.227A>T (p.Tyr76Phe)
c.*118+33A>T (n.*118+33A>T)
c.350A>T (p.Tyr117Phe)
c.242A>T (p.Tyr81Phe)
n.473A>T
c.278A>T (p.Tyr93Phe)
14g.91937099T>CCA390639910FBLN5c.*193A>G (n.*193A>G)
c.59A>G (p.Tyr20Cys)
c.401A>G (p.Tyr134Cys)
c.227A>G (p.Tyr76Cys)
c.*118+33A>G (n.*118+33A>G)
c.350A>G (p.Tyr117Cys)
c.242A>G (p.Tyr81Cys)
n.473A>G
c.278A>G (p.Tyr93Cys)
14g.91937099T>GCA390639911FBLN5c.*193A>C (n.*193A>C)
c.59A>C (p.Tyr20Ser)
c.401A>C (p.Tyr134Ser)
c.227A>C (p.Tyr76Ser)
c.*118+33A>C (n.*118+33A>C)
c.350A>C (p.Tyr117Ser)
c.242A>C (p.Tyr81Ser)
n.473A>C
c.278A>C (p.Tyr93Ser)
14g.91937100A>CCA390639912FBLN5c.*192T>G (n.*192T>G)
c.58T>G (p.Tyr20Asp)
c.400T>G (p.Tyr134Asp)
c.226T>G (p.Tyr76Asp)
c.*118+32T>G (n.*118+32T>G)
c.349T>G (p.Tyr117Asp)
c.241T>G (p.Tyr81Asp)
n.472T>G
c.277T>G (p.Tyr93Asp)
14g.91937100A>GCA390639913FBLN5c.*192T>C (n.*192T>C)
c.58T>C (p.Tyr20His)
c.400T>C (p.Tyr134His)
c.226T>C (p.Tyr76His)
c.*118+32T>C (n.*118+32T>C)
c.349T>C (p.Tyr117His)
c.241T>C (p.Tyr81His)
n.472T>C
c.277T>C (p.Tyr93His)
14g.91937100A>TCA390639914FBLN5c.*192T>A (n.*192T>A)
c.58T>A (p.Tyr20Asn)
c.400T>A (p.Tyr134Asn)
c.226T>A (p.Tyr76Asn)
c.*118+32T>A (n.*118+32T>A)
c.349T>A (p.Tyr117Asn)
c.241T>A (p.Tyr81Asn)
n.472T>A
c.277T>A (p.Tyr93Asn)
 gnomAD v4
14g.91937101C>ACA487830622FBLN5c.*191G>T (n.*191G>T)
c.57G>T (p.Val19=)
c.399G>T (p.Val133=)
c.225G>T (p.Val75=)
c.*118+31G>T (n.*118+31G>T)
c.348G>T (p.Val116=)
c.240G>T (p.Val80=)
n.471G>T
c.276G>T (p.Val92=)
 gnomAD v4
14g.91937101C>GCA487830623FBLN5c.*191G>C (n.*191G>C)
c.57G>C (p.Val19=)
c.399G>C (p.Val133=)
c.225G>C (p.Val75=)
c.*118+31G>C (n.*118+31G>C)
c.348G>C (p.Val116=)
c.240G>C (p.Val80=)
n.471G>C
c.276G>C (p.Val92=)
14g.91937101C>TCA487830624FBLN5c.*191G>A (n.*191G>A)
c.57G>A (p.Val19=)
c.399G>A (p.Val133=)
c.225G>A (p.Val75=)
c.*118+31G>A (n.*118+31G>A)
c.348G>A (p.Val116=)
c.240G>A (p.Val80=)
n.471G>A
c.276G>A (p.Val92=)
14g.91937102A=CA2155180558FBLN5c.*190T= (n.*190T=)
c.56T= (p.Val19=)
c.398T= (p.Val133=)
c.224T= (p.Val75=)
c.*118+30T= (n.*118+30T=)
c.347T= (p.Val116=)
c.239T= (p.Val80=)
n.470T=
c.275T= (p.Val92=)
14g.91937102A>CCA390639916FBLN5c.*190T>G (n.*190T>G)
c.56T>G (p.Val19Gly)
c.398T>G (p.Val133Gly)
c.224T>G (p.Val75Gly)
c.*118+30T>G (n.*118+30T>G)
c.347T>G (p.Val116Gly)
c.239T>G (p.Val80Gly)
n.470T>G
c.275T>G (p.Val92Gly)
 gnomAD v4
14g.91937102A>GCA7312906FBLN5c.*190T>C (n.*190T>C)
c.56T>C (p.Val19Ala)
c.398T>C (p.Val133Ala)
c.224T>C (p.Val75Ala)
c.*118+30T>C (n.*118+30T>C)
c.347T>C (p.Val116Ala)
c.239T>C (p.Val80Ala)
n.470T>C
c.275T>C (p.Val92Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937102A>TCA390639915FBLN5c.*190T>A (n.*190T>A)
c.56T>A (p.Val19Glu)
c.398T>A (p.Val133Glu)
c.224T>A (p.Val75Glu)
c.*118+30T>A (n.*118+30T>A)
c.347T>A (p.Val116Glu)
c.239T>A (p.Val80Glu)
n.470T>A
c.275T>A (p.Val92Glu)
 gnomAD v4
14g.91937103C>ACA390639917FBLN5c.*189G>T (n.*189G>T)
c.55G>T (p.Val19Leu)
c.397G>T (p.Val133Leu)
c.223G>T (p.Val75Leu)
c.*118+29G>T (n.*118+29G>T)
c.346G>T (p.Val116Leu)
c.238G>T (p.Val80Leu)
n.469G>T
c.274G>T (p.Val92Leu)
14g.91937103C>GCA390639918FBLN5c.*189G>C (n.*189G>C)
c.55G>C (p.Val19Leu)
c.397G>C (p.Val133Leu)
c.223G>C (p.Val75Leu)
c.*118+29G>C (n.*118+29G>C)
c.346G>C (p.Val116Leu)
c.238G>C (p.Val80Leu)
n.469G>C
c.274G>C (p.Val92Leu)
14g.91937103C>TCA390639919FBLN5c.*189G>A (n.*189G>A)
c.55G>A (p.Val19Met)
c.397G>A (p.Val133Met)
c.223G>A (p.Val75Met)
c.*118+29G>A (n.*118+29G>A)
c.346G>A (p.Val116Met)
c.238G>A (p.Val80Met)
n.469G>A
c.274G>A (p.Val92Met)
14g.91937104A=CA2155180561FBLN5c.*188T= (n.*188T=)
c.54T= (p.Pro18=)
c.396T= (p.Pro132=)
c.222T= (p.Pro74=)
c.*118+28T= (n.*118+28T=)
c.345T= (p.Pro115=)
c.237T= (p.Pro79=)
n.468T=
c.273T= (p.Pro91=)
14g.91937104A>CCA487830628FBLN5c.*188T>G (n.*188T>G)
c.54T>G (p.Pro18=)
c.396T>G (p.Pro132=)
c.222T>G (p.Pro74=)
c.*118+28T>G (n.*118+28T>G)
c.345T>G (p.Pro115=)
c.237T>G (p.Pro79=)
n.468T>G
c.273T>G (p.Pro91=)
14g.91937104A>GCA487830627FBLN5c.*188T>C (n.*188T>C)
c.54T>C (p.Pro18=)
c.396T>C (p.Pro132=)
c.222T>C (p.Pro74=)
c.*118+28T>C (n.*118+28T>C)
c.345T>C (p.Pro115=)
c.237T>C (p.Pro79=)
n.468T>C
c.273T>C (p.Pro91=)
 dbSNP gnomAD v2 gnomAD v4
14g.91937104A>TCA487830626FBLN5c.*188T>A (n.*188T>A)
c.54T>A (p.Pro18=)
c.396T>A (p.Pro132=)
c.222T>A (p.Pro74=)
c.*118+28T>A (n.*118+28T>A)
c.345T>A (p.Pro115=)
c.237T>A (p.Pro79=)
n.468T>A
c.273T>A (p.Pro91=)
14g.91937105G>ACA390639920FBLN5c.*187C>T (n.*187C>T)
c.53C>T (p.Pro18Leu)
c.395C>T (p.Pro132Leu)
c.221C>T (p.Pro74Leu)
c.*118+27C>T (n.*118+27C>T)
c.344C>T (p.Pro115Leu)
c.236C>T (p.Pro79Leu)
n.467C>T
c.272C>T (p.Pro91Leu)
14g.91937105G>CCA390639921FBLN5c.*187C>G (n.*187C>G)
c.53C>G (p.Pro18Arg)
c.395C>G (p.Pro132Arg)
c.221C>G (p.Pro74Arg)
c.*118+27C>G (n.*118+27C>G)
c.344C>G (p.Pro115Arg)
c.236C>G (p.Pro79Arg)
n.467C>G
c.272C>G (p.Pro91Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91937105G=CA2155180563FBLN5c.*187C= (n.*187C=)
c.53C= (p.Pro18=)
c.395C= (p.Pro132=)
c.221C= (p.Pro74=)
c.*118+27C= (n.*118+27C=)
c.344C= (p.Pro115=)
c.236C= (p.Pro79=)
n.467C=
c.272C= (p.Pro91=)
14g.91937105G>TCA390639922FBLN5c.*187C>A (n.*187C>A)
c.53C>A (p.Pro18His)
c.395C>A (p.Pro132His)
c.221C>A (p.Pro74His)
c.*118+27C>A (n.*118+27C>A)
c.344C>A (p.Pro115His)
c.236C>A (p.Pro79His)
n.467C>A
c.272C>A (p.Pro91His)
14g.91937106G>ACA390639923FBLN5c.*186C>T (n.*186C>T)
c.52C>T (p.Pro18Ser)
c.394C>T (p.Pro132Ser)
c.220C>T (p.Pro74Ser)
c.*118+26C>T (n.*118+26C>T)
c.343C>T (p.Pro115Ser)
c.235C>T (p.Pro79Ser)
n.466C>T
c.271C>T (p.Pro91Ser)
14g.91937106G>CCA7312907FBLN5c.*186C>G (n.*186C>G)
c.52C>G (p.Pro18Ala)
c.394C>G (p.Pro132Ala)
c.220C>G (p.Pro74Ala)
c.*118+26C>G (n.*118+26C>G)
c.343C>G (p.Pro115Ala)
c.235C>G (p.Pro79Ala)
n.466C>G
c.271C>G (p.Pro91Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937106G=CA2155180565FBLN5c.*186C= (n.*186C=)
c.52C= (p.Pro18=)
c.394C= (p.Pro132=)
c.220C= (p.Pro74=)
c.*118+26C= (n.*118+26C=)
c.343C= (p.Pro115=)
c.235C= (p.Pro79=)
n.466C=
c.271C= (p.Pro91=)
14g.91937106G>TCA390639924FBLN5c.*186C>A (n.*186C>A)
c.52C>A (p.Pro18Thr)
c.394C>A (p.Pro132Thr)
c.220C>A (p.Pro74Thr)
c.*118+26C>A (n.*118+26C>A)
c.343C>A (p.Pro115Thr)
c.235C>A (p.Pro79Thr)
n.466C>A
c.271C>A (p.Pro91Thr)
14g.91937107G>ACA487830632FBLN5c.*185C>T (n.*185C>T)
c.51C>T (p.Asn17=)
c.393C>T (p.Asn131=)
c.219C>T (p.Asn73=)
c.*118+25C>T (n.*118+25C>T)
c.342C>T (p.Asn114=)
c.234C>T (p.Asn78=)
n.465C>T
c.270C>T (p.Asn90=)
 dbSNP
14g.91937107G>CCA390639925FBLN5c.*185C>G (n.*185C>G)
c.51C>G (p.Asn17Lys)
c.393C>G (p.Asn131Lys)
c.219C>G (p.Asn73Lys)
c.*118+25C>G (n.*118+25C>G)
c.342C>G (p.Asn114Lys)
c.234C>G (p.Asn78Lys)
n.465C>G
c.270C>G (p.Asn90Lys)
14g.91937107G=CA2155180567FBLN5c.*185C= (n.*185C=)
c.51C= (p.Asn17=)
c.393C= (p.Asn131=)
c.219C= (p.Asn73=)
c.*118+25C= (n.*118+25C=)
c.342C= (p.Asn114=)
c.234C= (p.Asn78=)
n.465C=
c.270C= (p.Asn90=)
14g.91937107G>TCA390639926FBLN5c.*185C>A (n.*185C>A)
c.51C>A (p.Asn17Lys)
c.393C>A (p.Asn131Lys)
c.219C>A (p.Asn73Lys)
c.*118+25C>A (n.*118+25C>A)
c.342C>A (p.Asn114Lys)
c.234C>A (p.Asn78Lys)
n.465C>A
c.270C>A (p.Asn90Lys)
14g.91937108T>ACA390639927FBLN5c.*184A>T (n.*184A>T)
c.50A>T (p.Asn17Ile)
c.392A>T (p.Asn131Ile)
c.218A>T (p.Asn73Ile)
c.*118+24A>T (n.*118+24A>T)
c.341A>T (p.Asn114Ile)
c.233A>T (p.Asn78Ile)
n.464A>T
c.269A>T (p.Asn90Ile)
 ClinVar gnomAD v4
14g.91937108T>CCA390639929FBLN5c.*184A>G (n.*184A>G)
c.50A>G (p.Asn17Ser)
c.392A>G (p.Asn131Ser)
c.218A>G (p.Asn73Ser)
c.*118+24A>G (n.*118+24A>G)
c.341A>G (p.Asn114Ser)
c.233A>G (p.Asn78Ser)
n.464A>G
c.269A>G (p.Asn90Ser)
14g.91937108T>GCA390639928FBLN5c.*184A>C (n.*184A>C)
c.50A>C (p.Asn17Thr)
c.392A>C (p.Asn131Thr)
c.218A>C (p.Asn73Thr)
c.*118+24A>C (n.*118+24A>C)
c.341A>C (p.Asn114Thr)
c.233A>C (p.Asn78Thr)
n.464A>C
c.269A>C (p.Asn90Thr)
14g.91937109T>ACA390639930FBLN5c.*183A>T (n.*183A>T)
c.49A>T (p.Asn17Tyr)
c.391A>T (p.Asn131Tyr)
c.217A>T (p.Asn73Tyr)
c.*118+23A>T (n.*118+23A>T)
c.340A>T (p.Asn114Tyr)
c.232A>T (p.Asn78Tyr)
n.463A>T
c.268A>T (p.Asn90Tyr)
14g.91937109T>CCA390639932FBLN5c.*183A>G (n.*183A>G)
c.49A>G (p.Asn17Asp)
c.391A>G (p.Asn131Asp)
c.217A>G (p.Asn73Asp)
c.*118+23A>G (n.*118+23A>G)
c.340A>G (p.Asn114Asp)
c.232A>G (p.Asn78Asp)
n.463A>G
c.268A>G (p.Asn90Asp)
14g.91937109T>GCA390639931FBLN5c.*183A>C (n.*183A>C)
c.49A>C (p.Asn17His)
c.391A>C (p.Asn131His)
c.217A>C (p.Asn73His)
c.*118+23A>C (n.*118+23A>C)
c.340A>C (p.Asn114His)
c.232A>C (p.Asn78His)
n.463A>C
c.268A>C (p.Asn90His)
14g.91937110T>ACA487830634FBLN5c.*182A>T (n.*182A>T)
c.48A>T (p.Thr16=)
c.390A>T (p.Thr130=)
c.216A>T (p.Thr72=)
c.*118+22A>T (n.*118+22A>T)
c.339A>T (p.Thr113=)
c.231A>T (p.Thr77=)
n.462A>T
c.267A>T (p.Thr89=)
14g.91937110T>CCA487830635FBLN5c.*182A>G (n.*182A>G)
c.48A>G (p.Thr16=)
c.390A>G (p.Thr130=)
c.216A>G (p.Thr72=)
c.*118+22A>G (n.*118+22A>G)
c.339A>G (p.Thr113=)
c.231A>G (p.Thr77=)
n.462A>G
c.267A>G (p.Thr89=)
14g.91937110T>GCA487830636FBLN5c.*182A>C (n.*182A>C)
c.48A>C (p.Thr16=)
c.390A>C (p.Thr130=)
c.216A>C (p.Thr72=)
c.*118+22A>C (n.*118+22A>C)
c.339A>C (p.Thr113=)
c.231A>C (p.Thr77=)
n.462A>C
c.267A>C (p.Thr89=)
14g.91937111G>ACA390639933FBLN5c.*181C>T (n.*181C>T)
c.47C>T (p.Thr16Ile)
c.389C>T (p.Thr130Ile)
c.215C>T (p.Thr72Ile)
c.*118+21C>T (n.*118+21C>T)
c.338C>T (p.Thr113Ile)
c.230C>T (p.Thr77Ile)
n.461C>T
c.266C>T (p.Thr89Ile)
 gnomAD v4
14g.91937111G>CCA390639934FBLN5c.*181C>G (n.*181C>G)
c.47C>G (p.Thr16Arg)
c.389C>G (p.Thr130Arg)
c.215C>G (p.Thr72Arg)
c.*118+21C>G (n.*118+21C>G)
c.338C>G (p.Thr113Arg)
c.230C>G (p.Thr77Arg)
n.461C>G
c.266C>G (p.Thr89Arg)
 dbSNP gnomAD v4
14g.91937111G=CA2155180569FBLN5c.*181C= (n.*181C=)
c.47C= (p.Thr16=)
c.389C= (p.Thr130=)
c.215C= (p.Thr72=)
c.*118+21C= (n.*118+21C=)
c.338C= (p.Thr113=)
c.230C= (p.Thr77=)
n.461C=
c.266C= (p.Thr89=)
14g.91937111G>TCA7312908FBLN5c.*181C>A (n.*181C>A)
c.47C>A (p.Thr16Lys)
c.389C>A (p.Thr130Lys)
c.215C>A (p.Thr72Lys)
c.*118+21C>A (n.*118+21C>A)
c.338C>A (p.Thr113Lys)
c.230C>A (p.Thr77Lys)
n.461C>A
c.266C>A (p.Thr89Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937112T>ACA390639935FBLN5c.*180A>T (n.*180A>T)
c.46A>T (p.Thr16Ser)
c.388A>T (p.Thr130Ser)
c.214A>T (p.Thr72Ser)
c.*118+20A>T (n.*118+20A>T)
c.337A>T (p.Thr113Ser)
c.229A>T (p.Thr77Ser)
n.460A>T
c.265A>T (p.Thr89Ser)
14g.91937112T>CCA390639937FBLN5c.*180A>G (n.*180A>G)
c.46A>G (p.Thr16Ala)
c.388A>G (p.Thr130Ala)
c.214A>G (p.Thr72Ala)
c.*118+20A>G (n.*118+20A>G)
c.337A>G (p.Thr113Ala)
c.229A>G (p.Thr77Ala)
n.460A>G
c.265A>G (p.Thr89Ala)
 gnomAD v4
14g.91937112T>GCA390639936FBLN5c.*180A>C (n.*180A>C)
c.46A>C (p.Thr16Pro)
c.388A>C (p.Thr130Pro)
c.214A>C (p.Thr72Pro)
c.*118+20A>C (n.*118+20A>C)
c.337A>C (p.Thr113Pro)
c.229A>C (p.Thr77Pro)
n.460A>C
c.265A>C (p.Thr89Pro)
14g.91937113C>ACA487830640FBLN5c.*179G>T (n.*179G>T)
c.45G>T (p.Arg15=)
c.387G>T (p.Arg129=)
c.213G>T (p.Arg71=)
c.*118+19G>T (n.*118+19G>T)
c.336G>T (p.Arg112=)
c.228G>T (p.Arg76=)
n.459G>T
c.264G>T (p.Arg88=)
14g.91937113C=CA2155180571FBLN5c.*179G= (n.*179G=)
c.45G= (p.Arg15=)
c.387G= (p.Arg129=)
c.213G= (p.Arg71=)
c.*118+19G= (n.*118+19G=)
c.336G= (p.Arg112=)
c.228G= (p.Arg76=)
n.459G=
c.264G= (p.Arg88=)
14g.91937113C>GCA487830641FBLN5c.*179G>C (n.*179G>C)
c.45G>C (p.Arg15=)
c.387G>C (p.Arg129=)
c.213G>C (p.Arg71=)
c.*118+19G>C (n.*118+19G>C)
c.336G>C (p.Arg112=)
c.228G>C (p.Arg76=)
n.459G>C
c.264G>C (p.Arg88=)
 gnomAD v4
14g.91937113C>TCA7312909FBLN5c.*179G>A (n.*179G>A)
c.45G>A (p.Arg15=)
c.387G>A (p.Arg129=)
c.213G>A (p.Arg71=)
c.*118+19G>A (n.*118+19G>A)
c.336G>A (p.Arg112=)
c.228G>A (p.Arg76=)
n.459G>A
c.264G>A (p.Arg88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937114C>ACA390639938FBLN5c.*178G>T (n.*178G>T)
c.44G>T (p.Arg15Leu)
c.386G>T (p.Arg129Leu)
c.212G>T (p.Arg71Leu)
c.*118+18G>T (n.*118+18G>T)
c.335G>T (p.Arg112Leu)
c.227G>T (p.Arg76Leu)
n.458G>T
c.263G>T (p.Arg88Leu)
14g.91937114C=CA2155180574FBLN5c.*178G= (n.*178G=)
c.44G= (p.Arg15=)
c.386G= (p.Arg129=)
c.212G= (p.Arg71=)
c.*118+18G= (n.*118+18G=)
c.335G= (p.Arg112=)
c.227G= (p.Arg76=)
n.458G=
c.263G= (p.Arg88=)
14g.91937114C>GCA390639939FBLN5c.*178G>C (n.*178G>C)
c.44G>C (p.Arg15Pro)
c.386G>C (p.Arg129Pro)
c.212G>C (p.Arg71Pro)
c.*118+18G>C (n.*118+18G>C)
c.335G>C (p.Arg112Pro)
c.227G>C (p.Arg76Pro)
n.458G>C
c.263G>C (p.Arg88Pro)
14g.91937114C>TCA213138FBLN5c.*178G>A (n.*178G>A)
c.44G>A (p.Arg15Gln)
c.386G>A (p.Arg129Gln)
c.212G>A (p.Arg71Gln)
c.*118+18G>A (n.*118+18G>A)
c.335G>A (p.Arg112Gln)
c.227G>A (p.Arg76Gln)
n.458G>A
c.263G>A (p.Arg88Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.91937115G>ACA390639940FBLN5c.*177C>T (n.*177C>T)
c.43C>T (p.Arg15Trp)
c.385C>T (p.Arg129Trp)
c.211C>T (p.Arg71Trp)
c.*118+17C>T (n.*118+17C>T)
c.334C>T (p.Arg112Trp)
c.226C>T (p.Arg76Trp)
n.457C>T
c.262C>T (p.Arg88Trp)
 ClinVar dbSNP gnomAD v4
14g.91937115G>CCA390639941FBLN5c.*177C>G (n.*177C>G)
c.43C>G (p.Arg15Gly)
c.385C>G (p.Arg129Gly)
c.211C>G (p.Arg71Gly)
c.*118+17C>G (n.*118+17C>G)
c.334C>G (p.Arg112Gly)
c.226C>G (p.Arg76Gly)
n.457C>G
c.262C>G (p.Arg88Gly)
14g.91937115G>TCA487830644FBLN5c.*177C>A (n.*177C>A)
c.43C>A (p.Arg15=)
c.385C>A (p.Arg129=)
c.211C>A (p.Arg71=)
c.*118+17C>A (n.*118+17C>A)
c.334C>A (p.Arg112=)
c.226C>A (p.Arg76=)
n.457C>A
c.262C>A (p.Arg88=)
14g.91937116_91937118delCA2697554097FBLN5c.*175_*177del (n.*175_*177del)
c.41_43del (p.Pro14del)
c.383_385del (p.Pro128del)
c.209_211del (p.Pro70del)
c.*118+15_*118+17del (n.*118+15_*118+17del)
c.332_334del (p.Pro111del)
c.224_226del (p.Pro75del)
n.455_457del
c.260_262del (p.Pro87del)
 ClinVar
14g.91937116G>ACA7312910FBLN5c.*176C>T (n.*176C>T)
c.42C>T (p.Pro14=)
c.384C>T (p.Pro128=)
c.210C>T (p.Pro70=)
c.*118+16C>T (n.*118+16C>T)
c.333C>T (p.Pro111=)
c.225C>T (p.Pro75=)
n.456C>T
c.261C>T (p.Pro87=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937116G>CCA265607730FBLN5c.*176C>G (n.*176C>G)
c.42C>G (p.Pro14=)
c.384C>G (p.Pro128=)
c.210C>G (p.Pro70=)
c.*118+16C>G (n.*118+16C>G)
c.333C>G (p.Pro111=)
c.225C>G (p.Pro75=)
n.456C>G
c.261C>G (p.Pro87=)
 dbSNP gnomAD v3 gnomAD v4
14g.91937116G=CA2155180578FBLN5c.*176C= (n.*176C=)
c.42C= (p.Pro14=)
c.384C= (p.Pro128=)
c.210C= (p.Pro70=)
c.*118+16C= (n.*118+16C=)
c.333C= (p.Pro111=)
c.225C= (p.Pro75=)
n.456C=
c.261C= (p.Pro87=)
14g.91937116G>TCA487830646FBLN5c.*176C>A (n.*176C>A)
c.42C>A (p.Pro14=)
c.384C>A (p.Pro128=)
c.210C>A (p.Pro70=)
c.*118+16C>A (n.*118+16C>A)
c.333C>A (p.Pro111=)
c.225C>A (p.Pro75=)
n.456C>A
c.261C>A (p.Pro87=)
14g.91937117G>ACA390639942FBLN5c.*175C>T (n.*175C>T)
c.41C>T (p.Pro14Leu)
c.383C>T (p.Pro128Leu)
c.209C>T (p.Pro70Leu)
c.*118+15C>T (n.*118+15C>T)
c.332C>T (p.Pro111Leu)
c.224C>T (p.Pro75Leu)
n.455C>T
c.260C>T (p.Pro87Leu)
 ClinVar dbSNP gnomAD v4
14g.91937117G>CCA390639943FBLN5c.*175C>G (n.*175C>G)
c.41C>G (p.Pro14Arg)
c.383C>G (p.Pro128Arg)
c.209C>G (p.Pro70Arg)
c.*118+15C>G (n.*118+15C>G)
c.332C>G (p.Pro111Arg)
c.224C>G (p.Pro75Arg)
n.455C>G
c.260C>G (p.Pro87Arg)
14g.91937117G=CA2155180580FBLN5c.*175C= (n.*175C=)
c.41C= (p.Pro14=)
c.383C= (p.Pro128=)
c.209C= (p.Pro70=)
c.*118+15C= (n.*118+15C=)
c.332C= (p.Pro111=)
c.224C= (p.Pro75=)
n.455C=
c.260C= (p.Pro87=)
14g.91937117G>TCA390639944FBLN5c.*175C>A (n.*175C>A)
c.41C>A (p.Pro14His)
c.383C>A (p.Pro128His)
c.209C>A (p.Pro70His)
c.*118+15C>A (n.*118+15C>A)
c.332C>A (p.Pro111His)
c.224C>A (p.Pro75His)
n.455C>A
c.260C>A (p.Pro87His)
14g.91937118G>ACA390639945FBLN5c.*174C>T (n.*174C>T)
c.40C>T (p.Pro14Ser)
c.382C>T (p.Pro128Ser)
c.208C>T (p.Pro70Ser)
c.*118+14C>T (n.*118+14C>T)
c.331C>T (p.Pro111Ser)
c.223C>T (p.Pro75Ser)
n.454C>T
c.259C>T (p.Pro87Ser)
14g.91937118G>CCA265607734FBLN5c.*174C>G (n.*174C>G)
c.40C>G (p.Pro14Ala)
c.382C>G (p.Pro128Ala)
c.208C>G (p.Pro70Ala)
c.*118+14C>G (n.*118+14C>G)
c.331C>G (p.Pro111Ala)
c.223C>G (p.Pro75Ala)
n.454C>G
c.259C>G (p.Pro87Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91937118G=CA2155180582FBLN5c.*174C= (n.*174C=)
c.40C= (p.Pro14=)
c.382C= (p.Pro128=)
c.208C= (p.Pro70=)
c.*118+14C= (n.*118+14C=)
c.331C= (p.Pro111=)
c.223C= (p.Pro75=)
n.454C=
c.259C= (p.Pro87=)
14g.91937118G>TCA390639946FBLN5c.*174C>A (n.*174C>A)
c.40C>A (p.Pro14Thr)
c.382C>A (p.Pro128Thr)
c.208C>A (p.Pro70Thr)
c.*118+14C>A (n.*118+14C>A)
c.331C>A (p.Pro111Thr)
c.223C>A (p.Pro75Thr)
n.454C>A
c.259C>A (p.Pro87Thr)
14g.91937119A>CCA390639947FBLN5c.*173T>G (n.*173T>G)
c.39T>G (p.Ile13Met)
c.381T>G (p.Ile127Met)
c.207T>G (p.Ile69Met)
c.*118+13T>G (n.*118+13T>G)
c.330T>G (p.Ile110Met)
c.222T>G (p.Ile74Met)
n.453T>G
c.258T>G (p.Ile86Met)
14g.91937119A>GCA487830648FBLN5c.*173T>C (n.*173T>C)
c.39T>C (p.Ile13=)
c.381T>C (p.Ile127=)
c.207T>C (p.Ile69=)
c.*118+13T>C (n.*118+13T>C)
c.330T>C (p.Ile110=)
c.222T>C (p.Ile74=)
n.453T>C
c.258T>C (p.Ile86=)
14g.91937119A>TCA487830649FBLN5c.*173T>A (n.*173T>A)
c.39T>A (p.Ile13=)
c.381T>A (p.Ile127=)
c.207T>A (p.Ile69=)
c.*118+13T>A (n.*118+13T>A)
c.330T>A (p.Ile110=)
c.222T>A (p.Ile74=)
n.453T>A
c.258T>A (p.Ile86=)
14g.91937120dupCA2626162113FBLN5c.*173dup (n.*173dup)
c.39dup (p.Pro14SerfsTer?)
c.381dup (p.Pro128SerfsTer?)
c.207dup (p.Pro70SerfsTer?)
c.*118+13dup (n.*118+13dup)
c.330dup (p.Pro111SerfsTer?)
c.222dup (p.Pro75SerfsTer?)
n.453dup
c.258dup (p.Pro87SerfsTer?)
 gnomAD v4
14g.91937120A>CCA390639948FBLN5c.*172T>G (n.*172T>G)
c.38T>G (p.Ile13Ser)
c.380T>G (p.Ile127Ser)
c.206T>G (p.Ile69Ser)
c.*118+12T>G (n.*118+12T>G)
c.329T>G (p.Ile110Ser)
c.221T>G (p.Ile74Ser)
n.452T>G
c.257T>G (p.Ile86Ser)
 gnomAD v4
14g.91937120A>GCA390639949FBLN5c.*172T>C (n.*172T>C)
c.38T>C (p.Ile13Thr)
c.380T>C (p.Ile127Thr)
c.206T>C (p.Ile69Thr)
c.*118+12T>C (n.*118+12T>C)
c.329T>C (p.Ile110Thr)
c.221T>C (p.Ile74Thr)
n.452T>C
c.257T>C (p.Ile86Thr)
14g.91937120A>TCA390639950FBLN5c.*172T>A (n.*172T>A)
c.38T>A (p.Ile13Asn)
c.380T>A (p.Ile127Asn)
c.206T>A (p.Ile69Asn)
c.*118+12T>A (n.*118+12T>A)
c.329T>A (p.Ile110Asn)
c.221T>A (p.Ile74Asn)
n.452T>A
c.257T>A (p.Ile86Asn)
14g.91937121T>ACA390639951FBLN5c.*171A>T (n.*171A>T)
c.37A>T (p.Ile13Phe)
c.379A>T (p.Ile127Phe)
c.205A>T (p.Ile69Phe)
c.*118+11A>T (n.*118+11A>T)
c.328A>T (p.Ile110Phe)
c.220A>T (p.Ile74Phe)
n.451A>T
c.256A>T (p.Ile86Phe)
 COSMIC
14g.91937121T>CCA390639952FBLN5c.*171A>G (n.*171A>G)
c.37A>G (p.Ile13Val)
c.379A>G (p.Ile127Val)
c.205A>G (p.Ile69Val)
c.*118+11A>G (n.*118+11A>G)
c.328A>G (p.Ile110Val)
c.220A>G (p.Ile74Val)
n.451A>G
c.256A>G (p.Ile86Val)
 gnomAD v4
14g.91937121T>GCA390639953FBLN5c.*171A>C (n.*171A>C)
c.37A>C (p.Ile13Leu)
c.379A>C (p.Ile127Leu)
c.205A>C (p.Ile69Leu)
c.*118+11A>C (n.*118+11A>C)
c.328A>C (p.Ile110Leu)
c.220A>C (p.Ile74Leu)
n.451A>C
c.256A>C (p.Ile86Leu)
14g.91937122G>ACA487830654FBLN5c.*170C>T (n.*170C>T)
c.36C>T (p.Cys12=)
c.378C>T (p.Cys126=)
c.204C>T (p.Cys68=)
c.*118+10C>T (n.*118+10C>T)
c.327C>T (p.Cys109=)
c.219C>T (p.Cys73=)
n.450C>T
c.255C>T (p.Cys85=)
 ClinVar dbSNP gnomAD v4
14g.91937122G>CCA390639954FBLN5c.*170C>G (n.*170C>G)
c.36C>G (p.Cys12Trp)
c.378C>G (p.Cys126Trp)
c.204C>G (p.Cys68Trp)
c.*118+10C>G (n.*118+10C>G)
c.327C>G (p.Cys109Trp)
c.219C>G (p.Cys73Trp)
n.450C>G
c.255C>G (p.Cys85Trp)
14g.91937122G=CA2155180585FBLN5c.*170C= (n.*170C=)
c.36C= (p.Cys12=)
c.378C= (p.Cys126=)
c.204C= (p.Cys68=)
c.*118+10C= (n.*118+10C=)
c.327C= (p.Cys109=)
c.219C= (p.Cys73=)
n.450C=
c.255C= (p.Cys85=)
14g.91937122G>TCA390639955FBLN5c.*170C>A (n.*170C>A)
c.36C>A (p.Cys12Ter)
c.378C>A (p.Cys126Ter)
c.204C>A (p.Cys68Ter)
c.*118+10C>A (n.*118+10C>A)
c.327C>A (p.Cys109Ter)
c.219C>A (p.Cys73Ter)
n.450C>A
c.255C>A (p.Cys85Ter)
14g.91937123C>ACA390639956FBLN5c.*169G>T (n.*169G>T)
c.35G>T (p.Cys12Phe)
c.377G>T (p.Cys126Phe)
c.203G>T (p.Cys68Phe)
c.*118+9G>T (n.*118+9G>T)
c.326G>T (p.Cys109Phe)
c.218G>T (p.Cys73Phe)
n.449G>T
c.254G>T (p.Cys85Phe)
14g.91937123C>GCA390639957FBLN5c.*169G>C (n.*169G>C)
c.35G>C (p.Cys12Ser)
c.377G>C (p.Cys126Ser)
c.203G>C (p.Cys68Ser)
c.*118+9G>C (n.*118+9G>C)
c.326G>C (p.Cys109Ser)
c.218G>C (p.Cys73Ser)
n.449G>C
c.254G>C (p.Cys85Ser)
14g.91937123C>TCA390639958FBLN5c.*169G>A (n.*169G>A)
c.35G>A (p.Cys12Tyr)
c.377G>A (p.Cys126Tyr)
c.203G>A (p.Cys68Tyr)
c.*118+9G>A (n.*118+9G>A)
c.326G>A (p.Cys109Tyr)
c.218G>A (p.Cys73Tyr)
n.449G>A
c.254G>A (p.Cys85Tyr)
 gnomAD v4
14g.91937124A>CCA390639961FBLN5c.*168T>G (n.*168T>G)
c.34T>G (p.Cys12Gly)
c.376T>G (p.Cys126Gly)
c.202T>G (p.Cys68Gly)
c.*118+8T>G (n.*118+8T>G)
c.325T>G (p.Cys109Gly)
c.217T>G (p.Cys73Gly)
n.448T>G
c.253T>G (p.Cys85Gly)
14g.91937124A>GCA390639960FBLN5c.*168T>C (n.*168T>C)
c.34T>C (p.Cys12Arg)
c.376T>C (p.Cys126Arg)
c.202T>C (p.Cys68Arg)
c.*118+8T>C (n.*118+8T>C)
c.325T>C (p.Cys109Arg)
c.217T>C (p.Cys73Arg)
n.448T>C
c.253T>C (p.Cys85Arg)
14g.91937124A>TCA390639959FBLN5c.*168T>A (n.*168T>A)
c.34T>A (p.Cys12Ser)
c.376T>A (p.Cys126Ser)
c.202T>A (p.Cys68Ser)
c.*118+8T>A (n.*118+8T>A)
c.325T>A (p.Cys109Ser)
c.217T>A (p.Cys73Ser)
n.448T>A
c.253T>A (p.Cys85Ser)
14g.91937125T>ACA7312911FBLN5c.*167A>T (n.*167A>T)
c.33A>T (p.Leu11Phe)
c.375A>T (p.Leu125Phe)
c.201A>T (p.Leu67Phe)
c.*118+7A>T (n.*118+7A>T)
c.324A>T (p.Leu108Phe)
c.216A>T (p.Leu72Phe)
n.447A>T
c.252A>T (p.Leu84Phe)
 dbSNP ExAC gnomAD v4
14g.91937125T>CCA487830657FBLN5c.*167A>G (n.*167A>G)
c.33A>G (p.Leu11=)
c.375A>G (p.Leu125=)
c.201A>G (p.Leu67=)
c.*118+7A>G (n.*118+7A>G)
c.324A>G (p.Leu108=)
c.216A>G (p.Leu72=)
n.447A>G
c.252A>G (p.Leu84=)
14g.91937125T>GCA390639962FBLN5c.*167A>C (n.*167A>C)
c.33A>C (p.Leu11Phe)
c.375A>C (p.Leu125Phe)
c.201A>C (p.Leu67Phe)
c.*118+7A>C (n.*118+7A>C)
c.324A>C (p.Leu108Phe)
c.216A>C (p.Leu72Phe)
n.447A>C
c.252A>C (p.Leu84Phe)
14g.91937125T=CA2155180587FBLN5c.*167A= (n.*167A=)
c.33A= (p.Leu11=)
c.375A= (p.Leu125=)
c.201A= (p.Leu67=)
c.*118+7A= (n.*118+7A=)
c.324A= (p.Leu108=)
c.216A= (p.Leu72=)
n.447A=
c.252A= (p.Leu84=)
14g.91937126A>CCA390639963FBLN5c.*166T>G (n.*166T>G)
c.32T>G (p.Leu11Ter)
c.374T>G (p.Leu125Ter)
c.200T>G (p.Leu67Ter)
c.*118+6T>G (n.*118+6T>G)
c.323T>G (p.Leu108Ter)
c.215T>G (p.Leu72Ter)
n.446T>G
c.251T>G (p.Leu84Ter)
14g.91937126A>GCA390639964FBLN5c.*166T>C (n.*166T>C)
c.32T>C (p.Leu11Ser)
c.374T>C (p.Leu125Ser)
c.200T>C (p.Leu67Ser)
c.*118+6T>C (n.*118+6T>C)
c.323T>C (p.Leu108Ser)
c.215T>C (p.Leu72Ser)
n.446T>C
c.251T>C (p.Leu84Ser)
14g.91937126A>TCA390639965FBLN5c.*166T>A (n.*166T>A)
c.32T>A (p.Leu11Ter)
c.374T>A (p.Leu125Ter)
c.200T>A (p.Leu67Ter)
c.*118+6T>A (n.*118+6T>A)
c.323T>A (p.Leu108Ter)
c.215T>A (p.Leu72Ter)
n.446T>A
c.251T>A (p.Leu84Ter)
14g.91937127A>CCA390639966FBLN5c.*165T>G (n.*165T>G)
c.31T>G (p.Leu11Val)
c.373T>G (p.Leu125Val)
c.199T>G (p.Leu67Val)
c.*118+5T>G (n.*118+5T>G)
c.322T>G (p.Leu108Val)
c.214T>G (p.Leu72Val)
n.445T>G
c.250T>G (p.Leu84Val)
14g.91937127A>GCA487830659FBLN5c.*165T>C (n.*165T>C)
c.31T>C (p.Leu11=)
c.373T>C (p.Leu125=)
c.199T>C (p.Leu67=)
c.*118+5T>C (n.*118+5T>C)
c.322T>C (p.Leu108=)
c.214T>C (p.Leu72=)
n.445T>C
c.250T>C (p.Leu84=)
14g.91937127A>TCA390639967FBLN5c.*165T>A (n.*165T>A)
c.31T>A (p.Leu11Ile)
c.373T>A (p.Leu125Ile)
c.199T>A (p.Leu67Ile)
c.*118+5T>A (n.*118+5T>A)
c.322T>A (p.Leu108Ile)
c.214T>A (p.Leu72Ile)
n.445T>A
c.250T>A (p.Leu84Ile)
14g.91937128A=CA2155180589FBLN5c.*164T= (n.*164T=)
c.30T= (p.Tyr10=)
c.372T= (p.Tyr124=)
c.198T= (p.Tyr66=)
c.*118+4T= (n.*118+4T=)
c.321T= (p.Tyr107=)
c.213T= (p.Tyr71=)
n.444T=
c.249T= (p.Tyr83=)
14g.91937128A>CCA390639968FBLN5c.*164T>G (n.*164T>G)
c.30T>G (p.Tyr10Ter)
c.372T>G (p.Tyr124Ter)
c.198T>G (p.Tyr66Ter)
c.*118+4T>G (n.*118+4T>G)
c.321T>G (p.Tyr107Ter)
c.213T>G (p.Tyr71Ter)
n.444T>G
c.249T>G (p.Tyr83Ter)
14g.91937128A>GCA7312912FBLN5c.*164T>C (n.*164T>C)
c.30T>C (p.Tyr10=)
c.372T>C (p.Tyr124=)
c.198T>C (p.Tyr66=)
c.*118+4T>C (n.*118+4T>C)
c.321T>C (p.Tyr107=)
c.213T>C (p.Tyr71=)
n.444T>C
c.249T>C (p.Tyr83=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937128A>TCA390639969FBLN5c.*164T>A (n.*164T>A)
c.30T>A (p.Tyr10Ter)
c.372T>A (p.Tyr124Ter)
c.198T>A (p.Tyr66Ter)
c.*118+4T>A (n.*118+4T>A)
c.321T>A (p.Tyr107Ter)
c.213T>A (p.Tyr71Ter)
n.444T>A
c.249T>A (p.Tyr83Ter)
14g.91937129T>ACA390639970FBLN5c.*163A>T (n.*163A>T)
c.29A>T (p.Tyr10Phe)
c.371A>T (p.Tyr124Phe)
c.197A>T (p.Tyr66Phe)
c.*118+3A>T (n.*118+3A>T)
c.320A>T (p.Tyr107Phe)
c.212A>T (p.Tyr71Phe)
n.443A>T
c.248A>T (p.Tyr83Phe)
14g.91937129T>CCA390639971FBLN5c.*163A>G (n.*163A>G)
c.29A>G (p.Tyr10Cys)
c.371A>G (p.Tyr124Cys)
c.197A>G (p.Tyr66Cys)
c.*118+3A>G (n.*118+3A>G)
c.320A>G (p.Tyr107Cys)
c.212A>G (p.Tyr71Cys)
n.443A>G
c.248A>G (p.Tyr83Cys)
14g.91937129T>GCA390639972FBLN5c.*163A>C (n.*163A>C)
c.29A>C (p.Tyr10Ser)
c.371A>C (p.Tyr124Ser)
c.197A>C (p.Tyr66Ser)
c.*118+3A>C (n.*118+3A>C)
c.320A>C (p.Tyr107Ser)
c.212A>C (p.Tyr71Ser)
n.443A>C
c.248A>C (p.Tyr83Ser)
14g.91937130A=CA2155180591FBLN5c.*162T= (n.*162T=)
c.28T= (p.Tyr10=)
c.370T= (p.Tyr124=)
c.196T= (p.Tyr66=)
c.*118+2T= (n.*118+2T=)
c.319T= (p.Tyr107=)
c.211T= (p.Tyr71=)
n.442T=
c.247T= (p.Tyr83=)
14g.91937130A>CCA7312913FBLN5c.*162T>G (n.*162T>G)
c.28T>G (p.Tyr10Asp)
c.370T>G (p.Tyr124Asp)
c.196T>G (p.Tyr66Asp)
c.*118+2T>G (n.*118+2T>G)
c.319T>G (p.Tyr107Asp)
c.211T>G (p.Tyr71Asp)
n.442T>G
c.247T>G (p.Tyr83Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937130A>GCA390639974FBLN5c.*162T>C (n.*162T>C)
c.28T>C (p.Tyr10His)
c.370T>C (p.Tyr124His)
c.196T>C (p.Tyr66His)
c.*118+2T>C (n.*118+2T>C)
c.319T>C (p.Tyr107His)
c.211T>C (p.Tyr71His)
n.442T>C
c.247T>C (p.Tyr83His)
14g.91937130A>TCA390639973FBLN5c.*162T>A (n.*162T>A)
c.28T>A (p.Tyr10Asn)
c.370T>A (p.Tyr124Asn)
c.196T>A (p.Tyr66Asn)
c.*118+2T>A (n.*118+2T>A)
c.319T>A (p.Tyr107Asn)
c.211T>A (p.Tyr71Asn)
n.442T>A
c.247T>A (p.Tyr83Asn)
14g.91937131C>ACA487830662FBLN5c.*161G>T (n.*161G>T)
c.27G>T (p.Gly9=)
c.369G>T (p.Gly123=)
c.195G>T (p.Gly65=)
c.*118+1G>T (n.*118+1G>T)
c.318G>T (p.Gly106=)
c.210G>T (p.Gly70=)
n.441G>T
c.246G>T (p.Gly82=)
 ClinVar
14g.91937131C=CA2155180593FBLN5c.*161G= (n.*161G=)
c.27G= (p.Gly9=)
c.369G= (p.Gly123=)
c.195G= (p.Gly65=)
c.*118+1G= (n.*118+1G=)
c.318G= (p.Gly106=)
c.210G= (p.Gly70=)
n.441G=
c.246G= (p.Gly82=)
14g.91937131C>GCA7312914FBLN5c.*161G>C (n.*161G>C)
c.27G>C (p.Gly9=)
c.369G>C (p.Gly123=)
c.195G>C (p.Gly65=)
c.*118+1G>C (n.*118+1G>C)
c.318G>C (p.Gly106=)
c.210G>C (p.Gly70=)
n.441G>C
c.246G>C (p.Gly82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937131C>TCA487830664FBLN5c.*161G>A (n.*161G>A)
c.27G>A (p.Gly9=)
c.369G>A (p.Gly123=)
c.195G>A (p.Gly65=)
c.*118+1G>A (n.*118+1G>A)
c.318G>A (p.Gly106=)
c.210G>A (p.Gly70=)
n.441G>A
c.246G>A (p.Gly82=)
14g.91937132C>ACA390639975FBLN5c.*160G>T (n.*160G>T)
c.26G>T (p.Gly9Val)
c.368G>T (p.Gly123Val)
c.194G>T (p.Gly65Val)
c.*118G>T (n.*118G>T)
c.317G>T (p.Gly106Val)
c.209G>T (p.Gly70Val)
n.440G>T
c.245G>T (p.Gly82Val)
14g.91937132C>GCA390639976FBLN5c.*160G>C (n.*160G>C)
c.26G>C (p.Gly9Ala)
c.368G>C (p.Gly123Ala)
c.194G>C (p.Gly65Ala)
c.*118G>C (n.*118G>C)
c.317G>C (p.Gly106Ala)
c.209G>C (p.Gly70Ala)
n.440G>C
c.245G>C (p.Gly82Ala)
14g.91937132C>TCA390639977FBLN5c.*160G>A (n.*160G>A)
c.26G>A (p.Gly9Glu)
c.368G>A (p.Gly123Glu)
c.194G>A (p.Gly65Glu)
c.*118G>A (n.*118G>A)
c.317G>A (p.Gly106Glu)
c.209G>A (p.Gly70Glu)
n.440G>A
c.245G>A (p.Gly82Glu)
14g.91937133C>ACA390639978FBLN5c.*159G>T (n.*159G>T)
c.25G>T (p.Gly9Trp)
c.367G>T (p.Gly123Trp)
c.193G>T (p.Gly65Trp)
c.*117G>T (n.*117G>T)
c.316G>T (p.Gly106Trp)
c.208G>T (p.Gly70Trp)
n.439G>T
c.244G>T (p.Gly82Trp)
14g.91937133C=CA2155180594FBLN5c.*159G= (n.*159G=)
c.25G= (p.Gly9=)
c.367G= (p.Gly123=)
c.193G= (p.Gly65=)
c.*117G= (n.*117G=)
c.316G= (p.Gly106=)
c.208G= (p.Gly70=)
n.439G=
c.244G= (p.Gly82=)
14g.91937133C>GCA390639979FBLN5c.*159G>C (n.*159G>C)
c.25G>C (p.Gly9Arg)
c.367G>C (p.Gly123Arg)
c.193G>C (p.Gly65Arg)
c.*117G>C (n.*117G>C)
c.316G>C (p.Gly106Arg)
c.208G>C (p.Gly70Arg)
n.439G>C
c.244G>C (p.Gly82Arg)
14g.91937133C>TCA7312915FBLN5c.*159G>A (n.*159G>A)
c.25G>A (p.Gly9Arg)
c.367G>A (p.Gly123Arg)
c.193G>A (p.Gly65Arg)
c.*117G>A (n.*117G>A)
c.316G>A (p.Gly106Arg)
c.208G>A (p.Gly70Arg)
n.439G>A
c.244G>A (p.Gly82Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91937134G>ACA487830665FBLN5c.*158C>T (n.*158C>T)
c.24C>T (p.Gly8=)
c.366C>T (p.Gly122=)
c.192C>T (p.Gly64=)
c.*116C>T (n.*116C>T)
c.315C>T (p.Gly105=)
c.207C>T (p.Gly69=)
n.438C>T
c.243C>T (p.Gly81=)
 COSMIC
14g.91937134G>CCA487830667FBLN5c.*158C>G (n.*158C>G)
c.24C>G (p.Gly8=)
c.366C>G (p.Gly122=)
c.192C>G (p.Gly64=)
c.*116C>G (n.*116C>G)
c.315C>G (p.Gly105=)
c.207C>G (p.Gly69=)
n.438C>G
c.243C>G (p.Gly81=)
14g.91937134G=CA2155180596FBLN5c.*158C= (n.*158C=)
c.24C= (p.Gly8=)
c.366C= (p.Gly122=)
c.192C= (p.Gly64=)
c.*116C= (n.*116C=)
c.315C= (p.Gly105=)
c.207C= (p.Gly69=)
n.438C=
c.243C= (p.Gly81=)
14g.91937134G>TCA7312916FBLN5c.*158C>A (n.*158C>A)
c.24C>A (p.Gly8=)
c.366C>A (p.Gly122=)
c.192C>A (p.Gly64=)
c.*116C>A (n.*116C>A)
c.315C>A (p.Gly105=)
c.207C>A (p.Gly69=)
n.438C>A
c.243C>A (p.Gly81=)
 dbSNP ExAC gnomAD v2
14g.91937135C>ACA390639980FBLN5c.*157G>T (n.*157G>T)
c.23G>T (p.Gly8Val)
c.365G>T (p.Gly122Val)
c.191G>T (p.Gly64Val)
c.*115G>T (n.*115G>T)
c.314G>T (p.Gly105Val)
c.206G>T (p.Gly69Val)
n.437G>T
c.242G>T (p.Gly81Val)
 gnomAD v4
14g.91937135C>GCA390639981FBLN5c.*157G>C (n.*157G>C)
c.23G>C (p.Gly8Ala)
c.365G>C (p.Gly122Ala)
c.191G>C (p.Gly64Ala)
c.*115G>C (n.*115G>C)
c.314G>C (p.Gly105Ala)
c.206G>C (p.Gly69Ala)
n.437G>C
c.242G>C (p.Gly81Ala)
14g.91937135C>TCA390639982FBLN5c.*157G>A (n.*157G>A)
c.23G>A (p.Gly8Asp)
c.365G>A (p.Gly122Asp)
c.191G>A (p.Gly64Asp)
c.*115G>A (n.*115G>A)
c.314G>A (p.Gly105Asp)
c.206G>A (p.Gly69Asp)
n.437G>A
c.242G>A (p.Gly81Asp)
14g.91937136C>ACA390639985FBLN5c.*156G>T (n.*156G>T)
c.22G>T (p.Gly8Cys)
c.364G>T (p.Gly122Cys)
c.190G>T (p.Gly64Cys)
c.*114G>T (n.*114G>T)
c.313G>T (p.Gly105Cys)
c.205G>T (p.Gly69Cys)
n.436G>T
c.241G>T (p.Gly81Cys)
14g.91937136C>GCA390639984FBLN5c.*156G>C (n.*156G>C)
c.22G>C (p.Gly8Arg)
c.364G>C (p.Gly122Arg)
c.190G>C (p.Gly64Arg)
c.*114G>C (n.*114G>C)
c.313G>C (p.Gly105Arg)
c.205G>C (p.Gly69Arg)
n.436G>C
c.241G>C (p.Gly81Arg)
14g.91937136C>TCA390639983FBLN5c.*156G>A (n.*156G>A)
c.22G>A (p.Gly8Ser)
c.364G>A (p.Gly122Ser)
c.190G>A (p.Gly64Ser)
c.*114G>A (n.*114G>A)
c.313G>A (p.Gly105Ser)
c.205G>A (p.Gly69Ser)
n.436G>A
c.241G>A (p.Gly81Ser)
14g.91937137A>CCA390639987FBLN5c.*155T>G (n.*155T>G)
c.21T>G (p.Asn7Lys)
c.363T>G (p.Asn121Lys)
c.189T>G (p.Asn63Lys)
c.*113T>G (n.*113T>G)
c.312T>G (p.Asn104Lys)
c.204T>G (p.Asn68Lys)
n.435T>G
c.240T>G (p.Asn80Lys)
14g.91937137A>GCA487830670FBLN5c.*155T>C (n.*155T>C)
c.21T>C (p.Asn7=)
c.363T>C (p.Asn121=)
c.189T>C (p.Asn63=)
c.*113T>C (n.*113T>C)
c.312T>C (p.Asn104=)
c.204T>C (p.Asn68=)
n.435T>C
c.240T>C (p.Asn80=)
 gnomAD v4
14g.91937137A>TCA390639986FBLN5c.*155T>A (n.*155T>A)
c.21T>A (p.Asn7Lys)
c.363T>A (p.Asn121Lys)
c.189T>A (p.Asn63Lys)
c.*113T>A (n.*113T>A)
c.312T>A (p.Asn104Lys)
c.204T>A (p.Asn68Lys)
n.435T>A
c.240T>A (p.Asn80Lys)
14g.91937138T>ACA390639990FBLN5c.*154A>T (n.*154A>T)
c.20A>T (p.Asn7Ile)
c.362A>T (p.Asn121Ile)
c.188A>T (p.Asn63Ile)
c.*112A>T (n.*112A>T)
c.311A>T (p.Asn104Ile)
c.203A>T (p.Asn68Ile)
n.434A>T
c.239A>T (p.Asn80Ile)
14g.91937138T>CCA390639988FBLN5c.*154A>G (n.*154A>G)
c.20A>G (p.Asn7Ser)
c.362A>G (p.Asn121Ser)
c.188A>G (p.Asn63Ser)
c.*112A>G (n.*112A>G)
c.311A>G (p.Asn104Ser)
c.203A>G (p.Asn68Ser)
n.434A>G
c.239A>G (p.Asn80Ser)
14g.91937138T>GCA390639989FBLN5c.*154A>C (n.*154A>C)
c.20A>C (p.Asn7Thr)
c.362A>C (p.Asn121Thr)
c.188A>C (p.Asn63Thr)
c.*112A>C (n.*112A>C)
c.311A>C (p.Asn104Thr)
c.203A>C (p.Asn68Thr)
n.434A>C
c.239A>C (p.Asn80Thr)
14g.91937139T>ACA390639991FBLN5c.*153A>T (n.*153A>T)
c.19A>T (p.Asn7Tyr)
c.361A>T (p.Asn121Tyr)
c.187A>T (p.Asn63Tyr)
c.*111A>T (n.*111A>T)
c.310A>T (p.Asn104Tyr)
c.202A>T (p.Asn68Tyr)
n.433A>T
c.238A>T (p.Asn80Tyr)
14g.91937139T>CCA390639992FBLN5c.*153A>G (n.*153A>G)
c.19A>G (p.Asn7Asp)
c.361A>G (p.Asn121Asp)
c.187A>G (p.Asn63Asp)
c.*111A>G (n.*111A>G)
c.310A>G (p.Asn104Asp)
c.202A>G (p.Asn68Asp)
n.433A>G
c.238A>G (p.Asn80Asp)
14g.91937139T>GCA390639993FBLN5c.*153A>C (n.*153A>C)
c.19A>C (p.Asn7His)
c.361A>C (p.Asn121His)
c.187A>C (p.Asn63His)
c.*111A>C (n.*111A>C)
c.310A>C (p.Asn104His)
c.202A>C (p.Asn68His)
n.433A>C
c.238A>C (p.Asn80His)
14g.91937140T>ACA390639994FBLN5c.*152A>T (n.*152A>T)
c.18A>T (p.Gln6His)
c.360A>T (p.Gln120His)
c.186A>T (p.Gln62His)
c.*110A>T (n.*110A>T)
c.309A>T (p.Gln103His)
c.201A>T (p.Gln67His)
n.432A>T
c.237A>T (p.Gln79His)
14g.91937140T>CCA487830672FBLN5c.*152A>G (n.*152A>G)
c.18A>G (p.Gln6=)
c.360A>G (p.Gln120=)
c.186A>G (p.Gln62=)
c.*110A>G (n.*110A>G)
c.309A>G (p.Gln103=)
c.201A>G (p.Gln67=)
n.432A>G
c.237A>G (p.Gln79=)
14g.91937140T>GCA390639995FBLN5c.*152A>C (n.*152A>C)
c.18A>C (p.Gln6His)
c.360A>C (p.Gln120His)
c.186A>C (p.Gln62His)
c.*110A>C (n.*110A>C)
c.309A>C (p.Gln103His)
c.201A>C (p.Gln67His)
n.432A>C
c.237A>C (p.Gln79His)
14g.91937141T>ACA390639996FBLN5c.*151A>T (n.*151A>T)
c.17A>T (p.Gln6Leu)
c.359A>T (p.Gln120Leu)
c.185A>T (p.Gln62Leu)
c.*109A>T (n.*109A>T)
c.308A>T (p.Gln103Leu)
c.200A>T (p.Gln67Leu)
n.431A>T
c.236A>T (p.Gln79Leu)
14g.91937141T>CCA390639997FBLN5c.*151A>G (n.*151A>G)
c.17A>G (p.Gln6Arg)
c.359A>G (p.Gln120Arg)
c.185A>G (p.Gln62Arg)
c.*109A>G (n.*109A>G)
c.308A>G (p.Gln103Arg)
c.200A>G (p.Gln67Arg)
n.431A>G
c.236A>G (p.Gln79Arg)
14g.91937141T>GCA390639998FBLN5c.*151A>C (n.*151A>C)
c.17A>C (p.Gln6Pro)
c.359A>C (p.Gln120Pro)
c.185A>C (p.Gln62Pro)
c.*109A>C (n.*109A>C)
c.308A>C (p.Gln103Pro)
c.200A>C (p.Gln67Pro)
n.431A>C
c.236A>C (p.Gln79Pro)
14g.91937142G>ACA390639999FBLN5c.*150C>T (n.*150C>T)
c.16C>T (p.Gln6Ter)
c.358C>T (p.Gln120Ter)
c.184C>T (p.Gln62Ter)
c.*108C>T (n.*108C>T)
c.307C>T (p.Gln103Ter)
c.199C>T (p.Gln67Ter)
n.430C>T
c.235C>T (p.Gln79Ter)
14g.91937142G>CCA390640000FBLN5c.*150C>G (n.*150C>G)
c.16C>G (p.Gln6Glu)
c.358C>G (p.Gln120Glu)
c.184C>G (p.Gln62Glu)
c.*108C>G (n.*108C>G)
c.307C>G (p.Gln103Glu)
c.199C>G (p.Gln67Glu)
n.430C>G
c.235C>G (p.Gln79Glu)
 COSMIC
14g.91937142G>TCA390640001FBLN5c.*150C>A (n.*150C>A)
c.16C>A (p.Gln6Lys)
c.358C>A (p.Gln120Lys)
c.184C>A (p.Gln62Lys)
c.*108C>A (n.*108C>A)
c.307C>A (p.Gln103Lys)
c.199C>A (p.Gln67Lys)
n.430C>A
c.235C>A (p.Gln79Lys)
14g.91937143G>ACA487830676FBLN5c.*149C>T (n.*149C>T)
c.15C>T (p.Asn5=)
c.357C>T (p.Asn119=)
c.183C>T (p.Asn61=)
c.*107C>T (n.*107C>T)
c.306C>T (p.Asn102=)
c.198C>T (p.Asn66=)
n.429C>T
c.234C>T (p.Asn78=)
 dbSNP COSMIC
14g.91937143G>CCA390640002FBLN5c.*149C>G (n.*149C>G)
c.15C>G (p.Asn5Lys)
c.357C>G (p.Asn119Lys)
c.183C>G (p.Asn61Lys)
c.*107C>G (n.*107C>G)
c.306C>G (p.Asn102Lys)
c.198C>G (p.Asn66Lys)
n.429C>G
c.234C>G (p.Asn78Lys)
14g.91937143G=CA2155180598FBLN5c.*149C= (n.*149C=)
c.15C= (p.Asn5=)
c.357C= (p.Asn119=)
c.183C= (p.Asn61=)
c.*107C= (n.*107C=)
c.306C= (p.Asn102=)
c.198C= (p.Asn66=)
n.429C=
c.234C= (p.Asn78=)
14g.91937143G>TCA390640003FBLN5c.*149C>A (n.*149C>A)
c.15C>A (p.Asn5Lys)
c.357C>A (p.Asn119Lys)
c.183C>A (p.Asn61Lys)
c.*107C>A (n.*107C>A)
c.306C>A (p.Asn102Lys)
c.198C>A (p.Asn66Lys)
n.429C>A
c.234C>A (p.Asn78Lys)
14g.91937144T>ACA390640004FBLN5c.*148A>T (n.*148A>T)
c.14A>T (p.Asn5Ile)
c.356A>T (p.Asn119Ile)
c.182A>T (p.Asn61Ile)
c.*106A>T (n.*106A>T)
c.305A>T (p.Asn102Ile)
c.197A>T (p.Asn66Ile)
n.428A>T
c.233A>T (p.Asn78Ile)
14g.91937144T>CCA390640005FBLN5c.*148A>G (n.*148A>G)
c.14A>G (p.Asn5Ser)
c.356A>G (p.Asn119Ser)
c.182A>G (p.Asn61Ser)
c.*106A>G (n.*106A>G)
c.305A>G (p.Asn102Ser)
c.197A>G (p.Asn66Ser)
n.428A>G
c.233A>G (p.Asn78Ser)
14g.91937144T>GCA390640006FBLN5c.*148A>C (n.*148A>C)
c.14A>C (p.Asn5Thr)
c.356A>C (p.Asn119Thr)
c.182A>C (p.Asn61Thr)
c.*106A>C (n.*106A>C)
c.305A>C (p.Asn102Thr)
c.197A>C (p.Asn66Thr)
n.428A>C
c.233A>C (p.Asn78Thr)
14g.91937145T>ACA390640007FBLN5c.*147A>T (n.*147A>T)
c.13A>T (p.Asn5Tyr)
c.355A>T (p.Asn119Tyr)
c.181A>T (p.Asn61Tyr)
c.*105A>T (n.*105A>T)
c.304A>T (p.Asn102Tyr)
c.196A>T (p.Asn66Tyr)
n.427A>T
c.232A>T (p.Asn78Tyr)
14g.91937145T>CCA390640008FBLN5c.*147A>G (n.*147A>G)
c.13A>G (p.Asn5Asp)
c.355A>G (p.Asn119Asp)
c.181A>G (p.Asn61Asp)
c.*105A>G (n.*105A>G)
c.304A>G (p.Asn102Asp)
c.196A>G (p.Asn66Asp)
n.427A>G
c.232A>G (p.Asn78Asp)
14g.91937145T>GCA390640009FBLN5c.*147A>C (n.*147A>C)
c.13A>C (p.Asn5His)
c.355A>C (p.Asn119His)
c.181A>C (p.Asn61His)
c.*105A>C (n.*105A>C)
c.304A>C (p.Asn102His)
c.196A>C (p.Asn66His)
n.427A>C
c.232A>C (p.Asn78His)
14g.91937146A>CCA487830678FBLN5c.*146T>G (n.*146T>G)
c.12T>G (p.Val4=)
c.354T>G (p.Val118=)
c.180T>G (p.Val60=)
c.*104T>G (n.*104T>G)
c.303T>G (p.Val101=)
c.195T>G (p.Val65=)
n.426T>G
c.231T>G (p.Val77=)
14g.91937146A>GCA487830679FBLN5c.*146T>C (n.*146T>C)
c.12T>C (p.Val4=)
c.354T>C (p.Val118=)
c.180T>C (p.Val60=)
c.*104T>C (n.*104T>C)
c.303T>C (p.Val101=)
c.195T>C (p.Val65=)
n.426T>C
c.231T>C (p.Val77=)
14g.91937146A>TCA487830680FBLN5c.*146T>A (n.*146T>A)
c.12T>A (p.Val4=)
c.354T>A (p.Val118=)
c.180T>A (p.Val60=)
c.*104T>A (n.*104T>A)
c.303T>A (p.Val101=)
c.195T>A (p.Val65=)
n.426T>A
c.231T>A (p.Val77=)
14g.91937147A=CA2155180600FBLN5c.*145T= (n.*145T=)
c.11T= (p.Val4=)
c.353T= (p.Val118=)
c.179T= (p.Val60=)
c.*103T= (n.*103T=)
c.302T= (p.Val101=)
c.194T= (p.Val65=)
n.425T=
c.230T= (p.Val77=)
14g.91937147A>CCA390640010FBLN5c.*145T>G (n.*145T>G)
c.11T>G (p.Val4Gly)
c.353T>G (p.Val118Gly)
c.179T>G (p.Val60Gly)
c.*103T>G (n.*103T>G)
c.302T>G (p.Val101Gly)
c.194T>G (p.Val65Gly)
n.425T>G
c.230T>G (p.Val77Gly)
14g.91937147A>GCA390640011FBLN5c.*145T>C (n.*145T>C)
c.11T>C (p.Val4Ala)
c.353T>C (p.Val118Ala)
c.179T>C (p.Val60Ala)
c.*103T>C (n.*103T>C)
c.302T>C (p.Val101Ala)
c.194T>C (p.Val65Ala)
n.425T>C
c.230T>C (p.Val77Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.91937147A>TCA390640012FBLN5c.*145T>A (n.*145T>A)
c.11T>A (p.Val4Asp)
c.353T>A (p.Val118Asp)
c.179T>A (p.Val60Asp)
c.*103T>A (n.*103T>A)
c.302T>A (p.Val101Asp)
c.194T>A (p.Val65Asp)
n.425T>A
c.230T>A (p.Val77Asp)
14g.91937148C>ACA390640013FBLN5c.*144G>T (n.*144G>T)
c.10G>T (p.Val4Phe)
c.352G>T (p.Val118Phe)
c.178G>T (p.Val60Phe)
c.*102G>T (n.*102G>T)
c.301G>T (p.Val101Phe)
c.193G>T (p.Val65Phe)
n.424G>T
c.229G>T (p.Val77Phe)
14g.91937148C=CA2155180601FBLN5c.*144G= (n.*144G=)
c.10G= (p.Val4=)
c.352G= (p.Val118=)
c.178G= (p.Val60=)
c.*102G= (n.*102G=)
c.301G= (p.Val101=)
c.193G= (p.Val65=)
n.424G=
c.229G= (p.Val77=)
14g.91937148C>GCA213136FBLN5c.*144G>C (n.*144G>C)
c.10G>C (p.Val4Leu)
c.352G>C (p.Val118Leu)
c.178G>C (p.Val60Leu)
c.*102G>C (n.*102G>C)
c.301G>C (p.Val101Leu)
c.193G>C (p.Val65Leu)
n.424G>C
c.229G>C (p.Val77Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91937148C>TCA390640014FBLN5c.*144G>A (n.*144G>A)
c.10G>A (p.Val4Ile)
c.352G>A (p.Val118Ile)
c.178G>A (p.Val60Ile)
c.*102G>A (n.*102G>A)
c.301G>A (p.Val101Ile)
c.193G>A (p.Val65Ile)
n.424G>A
c.229G>A (p.Val77Ile)
 gnomAD v4
14g.91937149A>CCA390640016FBLN5c.*143T>G (n.*143T>G)
c.9T>G (p.Cys3Trp)
c.351T>G (p.Cys117Trp)
c.177T>G (p.Cys59Trp)
c.*101T>G (n.*101T>G)
c.300T>G (p.Cys100Trp)
c.192T>G (p.Cys64Trp)
n.423T>G
c.228T>G (p.Cys76Trp)
14g.91937149A>GCA487830684FBLN5c.*143T>C (n.*143T>C)
c.9T>C (p.Cys3=)
c.351T>C (p.Cys117=)
c.177T>C (p.Cys59=)
c.*101T>C (n.*101T>C)
c.300T>C (p.Cys100=)
c.192T>C (p.Cys64=)
n.423T>C
c.228T>C (p.Cys76=)
14g.91937149A>TCA390640015FBLN5c.*143T>A (n.*143T>A)
c.9T>A (p.Cys3Ter)
c.351T>A (p.Cys117Ter)
c.177T>A (p.Cys59Ter)
c.*101T>A (n.*101T>A)
c.300T>A (p.Cys100Ter)
c.192T>A (p.Cys64Ter)
n.423T>A
c.228T>A (p.Cys76Ter)
14g.91937150C>ACA390640017FBLN5c.*142G>T (n.*142G>T)
c.8G>T (p.Cys3Phe)
c.350G>T (p.Cys117Phe)
c.176G>T (p.Cys59Phe)
c.*100G>T (n.*100G>T)
c.299G>T (p.Cys100Phe)
c.191G>T (p.Cys64Phe)
n.422G>T
c.227G>T (p.Cys76Phe)
14g.91937150C>GCA390640018FBLN5c.*142G>C (n.*142G>C)
c.8G>C (p.Cys3Ser)
c.350G>C (p.Cys117Ser)
c.176G>C (p.Cys59Ser)
c.*100G>C (n.*100G>C)
c.299G>C (p.Cys100Ser)
c.191G>C (p.Cys64Ser)
n.422G>C
c.227G>C (p.Cys76Ser)
14g.91937150C>TCA390640019FBLN5c.*142G>A (n.*142G>A)
c.8G>A (p.Cys3Tyr)
c.350G>A (p.Cys117Tyr)
c.176G>A (p.Cys59Tyr)
c.*100G>A (n.*100G>A)
c.299G>A (p.Cys100Tyr)
c.191G>A (p.Cys64Tyr)
n.422G>A
c.227G>A (p.Cys76Tyr)
14g.91937151A>CCA390640020FBLN5c.*141T>G (n.*141T>G)
c.7T>G (p.Cys3Gly)
c.349T>G (p.Cys117Gly)
c.175T>G (p.Cys59Gly)
c.*99T>G (n.*99T>G)
c.298T>G (p.Cys100Gly)
c.190T>G (p.Cys64Gly)
n.421T>G
c.226T>G (p.Cys76Gly)
14g.91937151A>GCA390640021FBLN5c.*141T>C (n.*141T>C)
c.7T>C (p.Cys3Arg)
c.349T>C (p.Cys117Arg)
c.175T>C (p.Cys59Arg)
c.*99T>C (n.*99T>C)
c.298T>C (p.Cys100Arg)
c.190T>C (p.Cys64Arg)
n.421T>C
c.226T>C (p.Cys76Arg)
14g.91937151A>TCA390640022FBLN5c.*141T>A (n.*141T>A)
c.7T>A (p.Cys3Ser)
c.349T>A (p.Cys117Ser)
c.175T>A (p.Cys59Ser)
c.*99T>A (n.*99T>A)
c.298T>A (p.Cys100Ser)
c.190T>A (p.Cys64Ser)
n.421T>A
c.226T>A (p.Cys76Ser)
14g.91937152C>ACA390640023FBLN5c.*140G>T (n.*140G>T)
c.6G>T (p.Met2Ile)
c.348G>T (p.Met116Ile)
c.174G>T (p.Met58Ile)
c.*98G>T (n.*98G>T)
c.297G>T (p.Met99Ile)
c.189G>T (p.Met63Ile)
n.420G>T
c.225G>T (p.Met75Ile)
14g.91937152C>GCA390640024FBLN5c.*140G>C (n.*140G>C)
c.6G>C (p.Met2Ile)
c.348G>C (p.Met116Ile)
c.174G>C (p.Met58Ile)
c.*98G>C (n.*98G>C)
c.297G>C (p.Met99Ile)
c.189G>C (p.Met63Ile)
n.420G>C
c.225G>C (p.Met75Ile)
 gnomAD v4
14g.91937152C>TCA390640025FBLN5c.*140G>A (n.*140G>A)
c.6G>A (p.Met2Ile)
c.348G>A (p.Met116Ile)
c.174G>A (p.Met58Ile)
c.*98G>A (n.*98G>A)
c.297G>A (p.Met99Ile)
c.189G>A (p.Met63Ile)
n.420G>A
c.225G>A (p.Met75Ile)
14g.91937153A>CCA390640026FBLN5c.*139T>G (n.*139T>G)
c.5T>G (p.Met2Arg)
c.347T>G (p.Met116Arg)
c.173T>G (p.Met58Arg)
c.*97T>G (n.*97T>G)
c.296T>G (p.Met99Arg)
c.188T>G (p.Met63Arg)
n.419T>G
c.224T>G (p.Met75Arg)
14g.91937153A>GCA390640027FBLN5c.*139T>C (n.*139T>C)
c.5T>C (p.Met2Thr)
c.347T>C (p.Met116Thr)
c.173T>C (p.Met58Thr)
c.*97T>C (n.*97T>C)
c.296T>C (p.Met99Thr)
c.188T>C (p.Met63Thr)
n.419T>C
c.224T>C (p.Met75Thr)
14g.91937153A>TCA390640028FBLN5c.*139T>A (n.*139T>A)
c.5T>A (p.Met2Lys)
c.347T>A (p.Met116Lys)
c.173T>A (p.Met58Lys)
c.*97T>A (n.*97T>A)
c.296T>A (p.Met99Lys)
c.188T>A (p.Met63Lys)
n.419T>A
c.224T>A (p.Met75Lys)
 gnomAD v4
14g.91937154T>ACA390640030FBLN5c.*138A>T (n.*138A>T)
c.4A>T (p.Met2Leu)
c.346A>T (p.Met116Leu)
c.172A>T (p.Met58Leu)
c.*96A>T (n.*96A>T)
c.295A>T (p.Met99Leu)
c.187A>T (p.Met63Leu)
n.418A>T
c.223A>T (p.Met75Leu)
14g.91937154T>CCA390640031FBLN5c.*138A>G (n.*138A>G)
c.4A>G (p.Met2Val)
c.346A>G (p.Met116Val)
c.172A>G (p.Met58Val)
c.*96A>G (n.*96A>G)
c.295A>G (p.Met99Val)
c.187A>G (p.Met63Val)
n.418A>G
c.223A>G (p.Met75Val)
14g.91937154T>GCA390640029FBLN5c.*138A>C (n.*138A>C)
c.4A>C (p.Met2Leu)
c.346A>C (p.Met116Leu)
c.172A>C (p.Met58Leu)
c.*96A>C (n.*96A>C)
c.295A>C (p.Met99Leu)
c.187A>C (p.Met63Leu)
n.418A>C
c.223A>C (p.Met75Leu)
14g.91937155C>ACA390640032FBLN5c.*137G>T (n.*137G>T)
c.3G>T (p.Met1Ile)
c.345G>T (p.Met115Ile)
c.171G>T (p.Met57Ile)
c.*95G>T (n.*95G>T)
c.294G>T (p.Met98Ile)
c.186G>T (p.Met62Ile)
n.417G>T
c.222G>T (p.Met74Ile)
14g.91937155C>GCA390640033FBLN5c.*137G>C (n.*137G>C)
c.3G>C (p.Met1Ile)
c.345G>C (p.Met115Ile)
c.171G>C (p.Met57Ile)
c.*95G>C (n.*95G>C)
c.294G>C (p.Met98Ile)
c.186G>C (p.Met62Ile)
n.417G>C
c.222G>C (p.Met74Ile)
 gnomAD v4
14g.91937155C>TCA390640034FBLN5c.*137G>A (n.*137G>A)
c.3G>A (p.Met1Ile)
c.345G>A (p.Met115Ile)
c.171G>A (p.Met57Ile)
c.*95G>A (n.*95G>A)
c.294G>A (p.Met98Ile)
c.186G>A (p.Met62Ile)
n.417G>A
c.222G>A (p.Met74Ile)
14g.91937156A=CA2155180603FBLN5c.*136T= (n.*136T=)
c.2T= (p.Met1=)
c.344T= (p.Met115=)
c.170T= (p.Met57=)
c.*94T= (n.*94T=)
c.293T= (p.Met98=)
c.185T= (p.Met62=)
n.416T=
c.221T= (p.Met74=)
14g.91937156A>CCA390640035FBLN5c.*136T>G (n.*136T>G)
c.2T>G (p.Met1Arg)
c.344T>G (p.Met115Arg)
c.170T>G (p.Met57Arg)
c.*94T>G (n.*94T>G)
c.293T>G (p.Met98Arg)
c.185T>G (p.Met62Arg)
n.416T>G
c.221T>G (p.Met74Arg)
14g.91937156A>GCA390640036FBLN5c.*136T>C (n.*136T>C)
c.2T>C (p.Met1Thr)
c.344T>C (p.Met115Thr)
c.170T>C (p.Met57Thr)
c.*94T>C (n.*94T>C)
c.293T>C (p.Met98Thr)
c.185T>C (p.Met62Thr)
n.416T>C
c.221T>C (p.Met74Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.91937156A>TCA390640037FBLN5c.*136T>A (n.*136T>A)
c.2T>A (p.Met1Lys)
c.344T>A (p.Met115Lys)
c.170T>A (p.Met57Lys)
c.*94T>A (n.*94T>A)
c.293T>A (p.Met98Lys)
c.185T>A (p.Met62Lys)
n.416T>A
c.221T>A (p.Met74Lys)
14g.91937157T>ACA390640038FBLN5c.*135A>T (n.*135A>T)
c.1A>T (p.Met1Leu)
c.343A>T (p.Met115Leu)
c.169A>T (p.Met57Leu)
c.*93A>T (n.*93A>T)
c.292A>T (p.Met98Leu)
c.184A>T (p.Met62Leu)
n.415A>T
c.220A>T (p.Met74Leu)
14g.91937157T>CCA390640040FBLN5c.*135A>G (n.*135A>G)
c.1A>G (p.Met1Val)
c.343A>G (p.Met115Val)
c.169A>G (p.Met57Val)
c.*93A>G (n.*93A>G)
c.292A>G (p.Met98Val)
c.184A>G (p.Met62Val)
n.415A>G
c.220A>G (p.Met74Val)
 gnomAD v4
14g.91937157T>GCA390640039FBLN5c.*135A>C (n.*135A>C)
c.1A>C (p.Met1Leu)
c.343A>C (p.Met115Leu)
c.169A>C (p.Met57Leu)
c.*93A>C (n.*93A>C)
c.292A>C (p.Met98Leu)
c.184A>C (p.Met62Leu)
n.415A>C
c.220A>C (p.Met74Leu)
14g.91937158G>ACA487830688FBLN5c.*134C>T (n.*134C>T)
c.-1C>T (n.-1C>T)
c.342C>T (p.Asp114=)
c.168C>T (p.Asp56=)
c.*92C>T (n.*92C>T)
c.291C>T (p.Asp97=)
c.183C>T (p.Asp61=)
n.414C>T
c.219C>T (p.Asp73=)
 dbSNP gnomAD v4
14g.91937158G>CCA390640041FBLN5c.*134C>G (n.*134C>G)
c.-1C>G (n.-1C>G)
c.342C>G (p.Asp114Glu)
c.168C>G (p.Asp56Glu)
c.*92C>G (n.*92C>G)
c.291C>G (p.Asp97Glu)
c.183C>G (p.Asp61Glu)
n.414C>G
c.219C>G (p.Asp73Glu)
14g.91937158G=CA2155180605FBLN5c.*134C= (n.*134C=)
c.-1C= (n.-1C=)
c.342C= (p.Asp114=)
c.168C= (p.Asp56=)
c.*92C= (n.*92C=)
c.291C= (p.Asp97=)
c.183C= (p.Asp61=)
n.414C=
c.219C= (p.Asp73=)
14g.91937158G>TCA390640042FBLN5c.*134C>A (n.*134C>A)
c.-1C>A (n.-1C>A)
c.342C>A (p.Asp114Glu)
c.168C>A (p.Asp56Glu)
c.*92C>A (n.*92C>A)
c.291C>A (p.Asp97Glu)
c.183C>A (p.Asp61Glu)
n.414C>A
c.219C>A (p.Asp73Glu)

Number of alleles fetched