| Protein Domain | Exon/Intron | DNA Change | Protein Change | Type | Reported Classification | Details | LOVD ID |
| Ig 1 | Exon 4 | c.358C>G | p.Leu120Val | Missense | Unknown |
Details
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| Ig 1 | Exon 4 | c.361G>A | p.Gly121Ser | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.536T>G | p.Ile179Ser | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.550C>T | p.Arg184Trp | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.551G>A | p.Arg184Gln | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.581A>G | p.Tyr194Cys | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.630C>G | p.His210Gln | Missense | Disease-causing |
Details
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| Ig 2 | Exon 6 | c.656T>C | p.Ile219Thr | Missense | Disease-causing |
Details
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| Ig 3 | Exon 7 | c.719C>T | p.Pro240Leu | Missense | Disease-causing |
Details
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| Ig 3 | Exon 7 | c.791G>A | p.Cys264Tyr | Missense | Disease-causing |
Details
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| Ig 3 | Exon 7 | c.803G>A | p.Gly268Asp | Missense | Disease-causing |
Details
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| Ig 3 | Exon 8 | c.925G>A | p.Glu309Lys | Missense | Disease-causing |
Details
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| Ig 4 | Exon 9 | c.1003T>C | p.Trp335Arg | Missense | Disease-causing |
Details
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| Ig 4 | Exon 9 | c.1108G>A | p.Gly370Arg | Missense | Disease-causing |
Details
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| Ig 4 | Exon 9 | c.998C>G | p.Pro333Arg | Missense | Disease-causing |
Details
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| Ig 4 | Exon 10 | c.1156C>T | p.Arg386Cys | Missense | Disease-causing |
Details
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| Ig 4 | Exon 10 | c.1172T>C | p.Leu391Pro | Missense | Disease-causing |
Details
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| Ig 5 | Exon 11 | c.1277C>A | p.Ala426Asp | Missense | Disease-causing |
Details
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| Ig 5 | Exon 11 | c.1354G>A | p.Gly452Arg | Missense | Disease-causing |
Details
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| Ig 5 | Exon 12 | c.1417C>T | p.Arg473Cys | Missense | Disease-causing |
Details
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| Ig 5 | Exon 12 | c.1445T>C | p.Leu482Pro | Missense | Likely disease-causing |
Details
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| Ig 6 | Exon 13 | c.1624T>C | p.Ser542Pro | Missense | Likely disease-causing |
Details
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| Ig 6 | Exon 14 | c.1792G>A | p.Asp598Asn | Missense | Disease-causing |
Details
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| Fn 1 | Exon 15 | c.1895G>C | p.Arg632Pro | Missense | Disease-causing |
Details
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| Fn 1 | Exon 16 | c.1963A>G | p.Lys655Glu | Missense | Disease-causing |
Details
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| Fn 1 | Exon 16 | c.2072C>A | p.Ala691Asp | Missense | Disease-causing |
Details
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| Fn 1 | Exon 16 | c.2092G>A | p.Gly698Arg | Missense | Disease-causing |
Details
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| Fn 2 | Exon 18 | c.2222T>C | p.Met741Thr | Missense | Likely disease-causing |
Details
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| Fn 2 | Exon 18 | c.2254G>A | p.Val752Met | Missense | Disease-causing |
Details
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| Fn 2 | Exon 18 | c.2302G>A | p.Val768Ile | Missense | Likely non disease-causing |
Details
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| Fn 2 | Exon 18 | c.2302G>T | p.Val768Phe | Missense | Disease-causing |
Details
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| Fn 2 | Exon 18 | c.2351A>G | p.Tyr784Cys | Missense | Disease-causing |
Details
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| Fn 4 | Exon 21 | c.2804T>C | p.Leu935Pro | Missense | Disease-causing |
Details
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| Fn 4 | Exon 21 | c.2822C>T | p.Pro941Leu | Missense | Disease-causing |
Details
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| Cytopl. | Exon 28 | c.3581C>T | p.Ser1194Leu | Missense | Disease-causing |
Details
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| Cytopl. | Exon 28 | c.3671C>T | p.Ser1224Leu | Missense | Disease-causing |
Details
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| Cytopl. | Exon 28 | c.3685T>C | p.Tyr1229His | Missense | Disease-causing |
Details
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