FN* | Origin | Mutation type | Exon/intron | Nucleotide change | Consequence | Polymorphism |
---|---|---|---|---|---|---|
*Family number. | ||||||
134 | France | Missense | Ex 1 | c.127G→C | Glu43Gln | |
521 | North Africa | Splice site | Intr 1 | c.415+1 g→a | Presumed missplicing | |
175 | Italy | Splice site | Intr 1 | c.415+1 g→t | Presumed missplicing | |
1619 | France | Missense | Ex 5 | c.712 C→A | p.Pro238Thr | |
306 | Portugal | Missense | Ex 8 | c.1108 G→A | p.Gly370Arg | |
278 | France | Missense | Ex 8 | c.1153 G→T | p.Gly385Trp | |
91 | France | Splice site | Intr 8 | c.1173+1 g→a | Presumed missplicing | |
113 | France | Missense | Ex 9 | c.1216 A→G | p.Ile406Val | |
Missense | Ex 17 | c.1735 A→C | p.Asn579His | |||
004 | France | Missense | Ex 10 | c.1270 A→G | p.Arg424Gly | |
048 | France | Missense | Ex 11 | c.1332 T→G | p.Asp444Glu | c.879 G→A/p.Pro293Pro |
1610 | France | Frameshift | Ex 11 | c.1348_1352 del5 | p.Glu452GlyfsX456 | |
213 | France | Missense | Ex 13 | c.1378 C→T | p.Arg460Cys | |
207 | France | Missense | Ex 13 | c.1382 T→C | p.Leu461Pro | |
154 | Turkey | Missense | Ex 13 | c.1495 C→T | p.Arg499Cys | |
539 | France | Missense | Ex 13 | c.1495 C→T | p.Arg499Cys | |
453 | France | Missense | Ex 13 | c.1496 G→A | p.Arg499His | c.131 C→T/p.Ser44Leu |
124 | France | Missense | Ex 13 | c.1507 C→T | p.Arg503Trp | |
008 | France | Nonsense | Ex 17 | c.1741 C→T | p.Arg581X |