| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Uliana (2011) |
 |
| 107570012 |
Exon 1-36 |
Large Deletion |
never used |
c.1-?_3246+?del |
p.? |
Pathogenic |
Uliana (2011) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Uliana (2011) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Large Deletion |
never used |
c.1-?_81+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1 |
Missense |
203A>G |
c.1A>G |
p.Met1Val |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-4 |
Large Deletion |
never used |
c.1-?_ 276+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-18 |
Large Deletion |
never used |
c.1-?_ 1032+?del |
p.? |
Pathogenic |
Hertz (2008) |
 |
| 107570012 |
Exon 1-18 |
Large Deletion |
never used |
c.1-?_1032+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-30 |
Large Deletion |
never used |
c.1-?_ 2509+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-30 |
Large Deletion |
never used |
c.1-?_ 2509+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107570012 |
Exon 1-32 |
Large Deletion |
never used |
c.1-?_ 2767+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-32 |
Large Deletion |
never used |
c.1-?_ 2767+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107570012 |
Exon 1-51 |
Large Deletion |
never used |
c.1-?_ 5058+?del |
Deletion of entire gene |
Pathogenic |
Barker (2001) |
 |
| 107570012 |
Exon 1-51 |
Large Deletion |
never used |
c.1-?_ 5058+?del |
Deletion of entire gene |
Pathogenic |
Nozu (2008) |
 |
| 107570012 |
Exon 1-51 |
Large Deletion |
never used |
c.1-?_ 5058+?del |
Deletion of entire gene |
Pathogenic |
Hoischen (2009) |
 |
| 107570013 |
Exon 1 |
Deletion |
204_205delTG |
c.2_3delTG |
p.Met1fs |
Pathogenic |
King (2006) |
 |
| 107570024 |
Exon 1 |
Nonsense |
215G>T |
c.13G>T |
p.Gly5X |
Pathogenic |
Cruz-Robles (1999) |
 |
| 107570052 |
Exon 1 |
Insertion |
never used |
c.41_42insTCTT |
p.Leu14fs |
Pathogenic |
Hertz (2008) |
 |
| 107570060 |
Exon 1 |
Deletion |
never used |
c.49_50delCT |
p.Leu17fs |
Pathogenic |
Ellison (2009) |
 |
| 107570076 |
Exon 1 |
Deletion |
c.267_279del13 |
c.65_77del |
p.Gln22fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107570093 |
Intron 1 |
Splice Site |
c.283+1G>C |
c.81+1G>C |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107641933 |
Exon 2-36 |
Large Duplication |
never used |
c.82-27.699_3246 +16.073dup |
p.Ala28_Lys1082dup |
Pathogenic |
Arrondel (2004) |
 |
| 107669632 |
Exon 2-8 |
Large Deletion |
never used |
c.82-?_ 465+?del |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107669632 |
Exon 2-19 |
Large Deletion |
never used |
c.82-?_ 1165+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107669632 |
Exon 2-36 |
Large Deletion |
never used |
c.82-?_ 3246+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107669632 |
Exon 2-37 |
Large Deletion |
never used |
c.82-?_ 3373+?del |
p.? |
Pathogenic |
King(2006) |
 |
| 107669632 |
Exon 2-51 |
Large Deletion |
never used |
c82-?_5058+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107669632 |
Exon 2-51 |
Large Deletion |
never used |
c82-?_5058+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107669632 |
Exon 2 |
Large Deletion |
c.284-?_343+?del |
c.82-?_141+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107669637 |
Exon 2 |
Nonsense |
never used |
c.87C>A |
p.Cys29X |
Pathogenic |
Savige (2008) |
 |
| 107669640 |
Exon 2 |
Nonsense |
292T>G |
c.90T>G |
p.Tyr30X |
Pathogenic |
Martin (2000) |
 |
| 107669669 |
Exon 2 |
Deletion |
never used |
c.119delG |
p.Cys40fs |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107688949 |
Intron 2 |
Splice Site |
344-1G>A |
c.142-1G>A |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107688950 |
Exon 3-37 |
Large Deletion |
never used |
c.142-?_ 3373+?del |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107688950 |
Exon 3-31 |
Large Deletion |
c.344-?_2879+?del |
c.142-?_2677+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107688950 |
Exon 3 |
Missense |
never used |
c.142G>A |
p.Gly48Arg |
Moderate |
Tan (2010) |
 |
| 107688959 |
Exon 3 |
Insertion |
c.353insA355insT |
c.151_152insA +156dup |
p.Gly51fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107688959 |
Exon 3 |
Large Deletion |
c.344-?_433+?del |
c.142-?_231+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107688969 |
Exon 3 |
Missense |
363G>A |
c.161G>A |
p.Gly54Asp |
Moderate |
Turco (1995) |
 |
| 107689040 |
Intron 3 |
Splice Site |
433+1G>A |
c.231+1G>A |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107693767 |
Intron 3 |
Splice Site |
434-1G>T |
c.232-1G>T |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107693767 |
Intron 3 |
Splice Site |
c.434-1G>T |
c.232-1G>A |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107693768 |
Exon 4/5-26 |
Large Deletion |
never used |
c.232-?_ 2041+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107693768 |
Exon 4-13 |
Large Deletion |
never used |
c.232-?_ 780+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107693768 |
Exon 4-47 |
Large Deletion |
never used |
c.232-?_ 4510+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107693786 |
Exon 4 |
Deletion |
452delG |
c.250delG |
p.Gly84fs |
Pathogenic |
Plant (1999) |
 |
| 107693817 |
Intron 4 |
Splice Site |
never used |
c.276+5G>A |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107698514 |
Intron 4 |
Splice Site |
479-1G>T |
c.277-1G>T |
p.? |
Moderate |
Plant (1999) |
 |
| 107698515 |
Exon 5-10 |
Large Deletion |
never used |
c.277-?_ 609+?del |
p.? |
Pathogenic |
Barker (1990) |
 |
| 107698524 |
Exon 5 |
Missense |
never used |
c.286G>A |
p.Gly96Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107698531 |
Exon 5 |
Deletion |
495delC |
c.293delC |
p.Pro98fs |
Pathogenic |
Barker (2001) |
 |
| 107698644 |
Intron 5 |
Splice Site |
524-1G>A |
c.322-1G>A |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107698674 |
Exon 6 |
Deletion |
never used |
c.351_359 del |
p.Pro118_Gly120del |
Pathogenic |
Savige (2008) |
 |
| 107698674 |
Exon 6 |
Deletion |
never used |
c.351_359del |
p.Pro118_Gly120del |
Moderate |
Tan (2010) |
 |
| 107698691 |
Exon 6 |
Deletion |
never used |
c.368delG |
p.Gly123fs |
Pathogenic |
Nagel (2005) |
 |
| 107700580 |
Intron 6 |
Splice site |
c.384-+ 1873 G>A |
c.385-719 G>A |
p.? |
Pathogenic |
King (2002) |
 |
| 107701298 |
Intron 6 |
Splice Site |
587-1G>C |
c.385-1G>C |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107701299 |
Exon 7 |
Missense |
never used |
c.385G>A |
p.Gly129Arg |
Moderate |
Bekheirnia (2010) |
 |
| 107701300 |
Exon 7 |
Missense |
588G>A |
c.386G>A |
p.Gly129Glu |
Pathogenic |
Lemmink (1997) |
 |
| 107701300 |
Exon 7 |
Missense |
588G>T |
c.386G>T |
p.Gly129Val |
Pathogenic |
Lemmink (1997) |
 |
| 107701302 |
Exon 7 |
Nonsense |
590G>T |
c.388G>T |
p.Glu130X |
Pathogenic |
Plant (1999) |
 |
| 107701344 |
Exon 7 |
Missense |
632G>A |
c.430G>A |
p.Gly144Ser |
Pathogenic |
Plant (1999) |
 |
| 107701344 |
Exon 7 |
Missense |
never used |
c.430G>C |
p.Gly144Arg |
Moderate |
Ma (2011) |
 |
| 107701345 |
Exon 7 |
Missense |
never used |
c.431G>A |
p.Gly144Asp |
Pathogenic |
Bekheirnia (2010) |
 |
| 107701354 |
Intron 7 |
Splice Site |
never used |
c.438+2T>C |
p.? |
Pathogenic |
Ma (2011) |
 |
| 107701357 |
Intron 7 |
Splice Site |
c.640+5G>A |
c.438+5G>A |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107701698 |
Exon 8 |
Deletion |
642del G |
c.440delG |
p.Gly147fs |
Pathogenic |
Inoue (1999) |
 |
| 107701699 |
Exon 8 |
Insertion |
never used |
c.441_442insC |
p.Pro148fs |
Pathogenic |
Nagel (2005) |
 |
| 107701704 |
Exon 8 |
Deletion |
648delC |
c.446delC |
p.Pro149fs |
Pathogenic |
Martin (1998) |
 |
| 107703443 |
Intron 8 |
Splice Site |
never used |
c.466-17T>G |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107703448 |
Intron 8 |
Splice Site |
668-12G>A |
c.466-12G>A |
p.? |
Pathogenic |
Wang (2005) |
 |
| 107703458 |
Intron 8 |
Splice Site |
668-2A>G |
c.466-2A>G |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107703470 |
Exon 9 |
Deletion |
never used |
c.476del |
p.Gly159fs |
Pathogenic |
Ma (2011) |
 |
| 107703514 |
Exon 9 |
Missense |
722G>C |
c.520G>C |
p.Gly174Arg |
Pathogenic |
Renieri (1996) |
 |
| 107703523 |
Exon 9 |
missense |
731 G>T |
c.529 G>T |
p. Gly177Cys |
Pathogenic |
Blasi (2000) |
 |
| 107703523 |
Exon 9 |
Missense |
731G>C |
c.529G>C |
p.Gly177Arg |
Moderate |
Renieri (1996) |
 |
| 107703527 |
Exon 9 |
Deletion |
735delC |
c.533delC |
p.Pro178fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107703532 |
Exon 9 |
Missense |
never used |
c.538G>A |
p.Gly180Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107703538 |
Intron 9 |
Splice Site |
746_748+4 delCAAgtaa |
c.544_546+4 delCAAgtaa |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107703541 |
Intron 9 |
Splice Site |
748+1G>AIVS9+1G>A |
c.546+1G>A |
p.? |
Moderate |
Knebelmann (1996) |
 |
| 107703543 |
Intron 9 |
Splice Site |
748+3insT |
c.546+3insT |
p.? |
Moderate |
Knebelmann (1996) |
 |
| 107705794 |
Intron 9 |
Splice Site |
c.749-2A>G |
c.547-2A>G |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107705795 |
Intron 9 |
Splice Site |
749-1G>A |
c.547-1G>A |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107705796 |
Exon 10 |
Duplication |
749_750insC |
c.547dup |
p.Gly183fs |
Pathogenic |
Hertz (2001) |
 |
| 107705797 |
Exon 10 |
Missense |
never used |
c.548G>T |
p.Gly183Val |
Pathogenic |
Nagel (2005) |
 |
| 107705799 |
Exon 10 |
Insertion |
752_753insC |
c.550_551insC |
p.Leu184fs |
Pathogenic |
Martin (1998) |
 |
| 107705822 |
Exon 10 |
Insertion |
never used |
c.573_574insGA |
p.Gly192fs |
Pathogenic |
Ma (2011) |
 |
| 107705823 |
Exon 10 |
Missense |
776G>A |
c.574G>A |
p.Gly192Arg |
Pathogenic |
Barker (2001) |
 |
| 107705833 |
Exon 10 |
Missense |
786G>A |
c.584G>A |
p.Gly195Asp |
Pathogenic |
Hertz (2001) |
 |
| 107705842 |
Exon 10 |
Missense |
795G>A |
c.593G>A |
p.Gly198Glu |
Pathogenic |
Slajpah (2007) |
 |
| 107705851 |
Exon 10 |
Missense |
804G>T |
c.602G>T |
p.Gly201Val |
Moderate |
Hertz (2001) |
 |
| 107705859 |
Intron 10 |
Splice Site |
811+1G>A |
c.609+1G>A |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107705879 |
Intron 10 |
Splice Site |
811+21T>C |
c.609+21T>C |
p.? |
Benign |
Barker (2001) |
 |
| 107707836 |
Intron 10 |
Splice Site |
812-2T>A |
c.610-2T>A |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107707836 |
Intron 10 |
Splice Site |
never used |
c.610-2A>G |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107707838 |
Exon 11 |
Deletion |
812_830del19 |
c.610_628del19 |
p.Gly204fs |
Pathogenic |
Inoue (1999) |
 |
| 107707839 |
Exon 11 |
Missense |
813G>A |
c.611G>A |
p.Gly204Asp |
Pathogenic |
Gross (2002) |
 |
| 107707839 |
Exon 11 |
Missense |
813G>T |
c.611G>T |
p.Gly204Val |
Pathogenic |
Knebelmann (1996) |
 |
| 107707839 |
Exon 11 |
Deletion |
c.813_814delGC |
c.611_612del |
p.Gly204fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107707862 |
Exon 11 |
Deletion |
836delC |
c.634delC |
p.Pro212fs |
Pathogenic |
Renieri (1996) |
 |
| 107707866 |
Exon 11 |
Missense |
840G>A |
c.638G>A |
p.Gly213Glu |
Pathogenic |
King (2006) |
 |
| 107707952 |
Intron 11 |
Deletion |
never used |
c.646-11_12 del TT |
p. G216_K229 del |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107707961 |
Intron 11 |
Splice Site |
848-3C>A |
c.646-3C>A |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107707964 |
Exon 12 |
Missense |
848G>A |
c.646G>A |
p.Gly216Arg |
Pathogenic |
Martin (2000) |
 |
| 107707965 |
Exon 12 |
Missense |
never used |
c.647G>T |
p.Gly216Val |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107707965 |
Exon 12 |
Duplication |
never used |
c.647_648dup |
p.Asn217fs |
Pathogenic |
Nagel (2005) |
 |
| 107707966 |
Exon 12 |
Duplication |
never used |
c.648dup |
p.Asn217fs |
Pathogenic |
Nagel (2005) |
 |
| 107707973 |
Exon 12 |
Missense |
857G>A |
c.655G>A |
p.Gly219Ser |
Pathogenic |
Renieri (1996) |
 |
| 107707983 |
Exon12 |
Missense |
never used |
c.665T>G |
p.Phe222Cys |
Pathogenic |
Becknell (2011) |
 |
| 107708000 |
Exon 12 |
Nonsense |
never used |
c.682G>T |
p.Glu228X |
Pathogenic |
Demosthenous (2011) |
 |
| 107708006 |
Intron 12 |
Splice Site |
889+1G>A |
c.687+1G>A |
p.? |
Moderate |
Lemmink (1997) |
 |
| 107708174 |
Intron 12 |
Splice Site |
890-3C>G |
c.688-3C>G |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107708177 |
Exon 13 |
Missense |
890G>C |
c.688G>C |
p.Gly230Arg |
Pathogenic |
Knebelmann (1996) |
 |
| 107708178 |
Exon 13 |
Deletion |
891delG |
c.689delG |
p.Gly230fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107708178 |
Exon 13 |
Missense |
never used |
c.689G>A |
p.Gly230Asp |
Pathogenic |
Bekheirnia (2010) |
 |
| 107708205 |
Exon 13 |
Missense |
918G>A |
c.716G>A |
p.Gly239Glu |
Pathogenic |
Knebelmann (1996) |
 |
| 107708250 |
Exon 13 |
Deletion |
963_964delAG |
c.761_762delAG |
p.Glu254fs |
Pathogenic |
Kawai (1996) |
 |
| 107708271 |
Intron 13 |
Splice Site |
never used |
c.780+2 T>G |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107710418 |
Intron 13 |
Splice Site |
983-1del7 |
c.781 -1del7 |
p.? |
Moderate |
Kawai (1996) |
 |
| 107710419 |
Exon 14-51 |
Large Deletion |
never used |
c.781-?_ 5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107710419 |
Exon 14-21 |
Large Deletion |
never used |
c.781-?_1423+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107710426 |
Exon 14 |
Deletion |
never used |
c.788delC |
p.Pro263fs |
Pathogenic |
Ma (2011) |
 |
| 107710428 |
Exon 14 |
Missense |
992G>C |
c.790G>C |
p.Gly264Arg |
Moderate |
Knebelmann (1996) |
 |
| 107710429 |
Exon 14 |
Missense |
never used |
c.791G>A |
p.Gly264Asp |
Pathogenic |
Nagel (2005) |
 |
| 107710434 |
Exon 14 |
Nonsense |
998C>T |
c.796C>T |
p.Arg266X |
Pathogenic |
Wang (2005) |
 |
| 107710450 |
Exon 14 |
Deletion |
1014delC |
c.812delC |
p.Pro271fs |
Pathogenic |
Gross (2002) |
 |
| 107710473 |
Intron 14 |
Splice Site |
1036+1G>A |
c.834+1G>A |
p.? |
Moderate |
Knebelmann (1996) |
 |
| 107710477 |
Intron 14 |
Splice Site |
1036+5G>T |
c.834+5G>T |
p.? |
Pathogenic |
Wang (2005) |
 |
| 107710592 |
Exon 15 |
Nonsense |
1061G>T |
c.859 G>T |
pGlu287X |
Pathogenic |
Lemmink (1997) |
 |
| 107710599 |
Exon 15 |
Nonsense |
1068G>T |
c.866 G>T |
pGlu289Val |
Pathogenic |
Lemmink (1997) |
 |
| 107710599 |
Exon 15 |
Deletion |
c.1068delC |
c.866delG |
p.Gly289fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107710606 |
Exon 15 |
Deletion |
c.1075delA |
c.873delA |
p.Gly292fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107710607 |
Exon 15 |
Missense |
1076G>C |
c.874G>C |
p.Gly292Arg |
Moderate |
Barker (2001) |
 |
| 107710608 |
Exon 15 |
Missense |
1077G>T |
c.875G>T |
p.Gly292Val |
Pathogenic |
Lemmink (1997) |
 |
| 107710608 |
Exon 15 |
Deletion |
c.1077delG |
c.875delG |
p.Gly292fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107710617 |
Exon 15 |
Missense |
1086G>A |
c.884G>A |
p.Gly295Asp |
Moderate |
Barker (2001) |
 |
| 107710625 |
Intron 15 |
Splice Site |
1093+1G>A |
c.891+1G>A |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107710867 |
Intron 15 |
Splice Site |
1094-2A>G |
c.892-2A>G |
p.? |
Moderate |
Lemmink (1997) |
 |
| 107710868 |
Intron 15 |
Splice Site |
1094-1G>C |
c.892-1G>C |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107710869 |
Exon 16 |
Missense |
1094G>A |
c.892G>A |
p.Gly298Ser |
Pathogenic |
Knebelmann (1996) |
 |
| 107710890 |
Exon 16 |
Nonsense |
1115G>T |
c.913G>T |
p.Glu305X |
Pathogenic |
Plant (1999) |
 |
| 107710897 |
Exon 16 |
Missense |
1122G>A |
c.920G>A |
p.Gly307Asp |
Moderate |
Gross (2002) |
 |
| 107710905 |
Exon 16 |
Missense |
1130G>A |
c.928G>A |
p.Gly310Arg |
Pathogenic |
Slajpah (2007) |
 |
| 107712769 |
Intron 16 |
Splice Site |
never used |
c.937-1G>A |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107712770 |
Exon 17 |
Large Deletion |
never used |
c.937-?_990+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107712770 |
Exon 17 |
Missense |
1139G>A |
c.937G>A |
p.Gly313Ser |
Pathogenic |
King (2006) |
 |
| 107712778 |
Exon 17 |
Insertion |
1147_1148insT |
c.945_946insT |
p.Gly316fs |
Pathogenic |
Martin (1998) |
 |
| 107712788 |
Exon 17 |
Missense |
never used |
c.955G>C |
p.Gly319Arg |
Pathogenic |
Cheong (2000) |
 |
| 107712789 |
Exon 17 |
Missense |
1158G>A |
c.956G>A |
p.Gly319Asp |
Pathogenic |
Slajpah (2007) |
 |
| 107712793 |
Exon 17 |
Nonsense |
never used |
c.960C>A |
p.Tyr320X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107712803 |
Exon 17 |
Silent |
1172C>T |
c.970C>T |
p.= |
Benign |
Plant (1999) |
 |
| 107712806 |
Exon 17 |
Missense |
1175G>A |
c.973G>A |
p.Gly325Arg |
Moderate |
Barker (2001) |
 |
| 107712806 |
Exon 17 |
Nonsense |
1175G>T |
c.973G>T |
p.Gly325X |
Pathogenic |
Kawai (1996) |
 |
| 107712807 |
Exon 17 |
Missense |
1176G>A |
c.974G>A |
p.Gly325Glu |
Pathogenic |
Renieri (1996) |
 |
| 107714371 |
Exon 18 |
Missense |
1194G>T |
c.992G>T |
p.Gly331Val |
Pathogenic |
Plant (1999) |
 |
| 107714372 |
Exon 18 |
Missense |
never used |
c.1001G>T |
p.Gly334Val |
Pathogenic |
Hertz (2008) |
 |
| 107714414 |
Intron 18 |
Splice Site |
1234+3delAAGT |
c.1032+3_1032+6 delAAGT |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107714416 |
Intron 18 |
Splice Site |
1234+5G>T |
c.1032+5G>T |
p.? |
Moderate |
Slajpah (2007) |
 |
| 107716486 |
Intron 18 |
Splice Site |
1235-15delT |
c.1033-15delT |
p.? |
Benign |
Barker (2001) |
 |
| 107716501 |
Exon 19-22 |
Large Deletion |
never used |
c.1033-?_1516+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107716528 |
Exon 19 |
Insertion |
c.1262_1263insA |
c.1060dup |
p.Thr354fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107716530 |
Exon 19 |
Insertion |
1264_1265insT |
c.1062dup |
p.Ile355fs |
Pathogenic |
Barker (2001) |
 |
| 107716542 |
Exon 19 |
Deletion |
1276delA |
c.1074delA |
p.Lys358fs |
Pathogenic |
Kawai (1996) |
 |
| 107716552 |
Exon 19 |
Missense |
never used |
c.1084G>A |
p.Gly362Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107716562 |
Exon 19 |
Missense |
1296G>A |
c.1094G>A |
p.Gly365Glu |
Pathogenic |
Lemmink (1997) |
 |
| 107716563 |
Exon 19 |
Silent |
1297G>C |
c.1095G>C |
p.= |
Benign |
Barker (2001) |
 |
| 107716580 |
Exon 19 |
Missense |
1314G>A |
c.1112G>A |
p.Gly371Glu |
Pathogenic |
Renieri (1996) |
 |
| 107716585 |
Exon 19 |
Nonsense |
1319C>T |
c.1117C>T |
p.Arg373X |
Pathogenic |
Renieri (1996) |
 |
| 107716589 |
Exon 19 |
Missense |
1323G>C |
c.1121G>C |
p.Gly374Ala |
Pathogenic |
Renieri (1996) |
 |
| 107716603 |
Exon 19 |
Nonsense |
never used |
c.1135C>T |
p.Gln379X |
Pathogenic |
Tug (2011) |
 |
| 107716607 |
Exon 19 |
Missense |
never used |
c.1139G>A |
p.Gly380Asp |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107716616 |
Exon 19 |
Missense |
1350G>A |
c.1148G>A |
p.Gly383Asp |
Pathogenic |
Kawai (1996) |
 |
| 107716634 |
Intron 19 |
Splice Site |
1367+1G>A |
c.1165+1G>A |
p.? |
Pathogenic |
Renieri (1996) |
 |
| 107716635 |
Intron 19 |
Splice Site |
1367+2T>G |
c.1165+2T>G |
p.? |
Pathogenic |
Renieri (1996) |
 |
| 107720944 |
Exon 20-21 |
Large Deletion |
never used |
c.1166-?_1423+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107720944 |
Exon 20-22 |
Large Deletion |
never used |
c.1166-?_1516+?del |
p.? |
Pathogenic |
Hertz (2008) |
 |
| 107720944 |
Exon 20-26 |
Large Deletion |
never used |
c.1166-?_2041+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107720959 |
Exon 20 |
Deletion |
c.1383delG |
c.1181del |
p.Glu394fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107720969 |
Exon 20 |
Silent |
1393C>G |
c.1191C>G |
p.= |
Benign |
Wang (2005) |
 |
| 107720977 |
Exon 20 |
Missense |
1401G>A |
c.1199G>A |
p.Gly400Glu |
Moderate |
Plant (1999) |
 |
| 107720986 |
Exon 20 |
Missense |
1410G>T |
c.1208G>T |
p.Gly403Val |
Pathogenic |
Wang (2005) |
 |
| 107720991 |
Exon 20 |
Duplication |
never used |
c.1213dup |
p.Arg405fs |
Pathogenic |
Tan (2010) |
 |
| 107720992 |
Exon 20 |
Insertion |
1416_1417insA |
c.1214_1215insA |
p.Arg405fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107720994 |
Exon 20 |
Missense |
1418G>A |
c.1216G>A |
p.Gly406Ser |
Pathogenic |
Rotondi (2012) |
 |
| 107720995 |
Exon 20 |
Insertion |
1419_1420 insGGGG |
c.1217ins_1218 GGGG |
p.Gly406fs |
Pathogenic |
Renieri (1996) |
 |
| 107720995 |
Exon 20 |
Missense |
1419G>T |
c.1217G>T |
p.Gly406Val |
Moderate |
Renieri (1996) |
 |
| 107720998 |
Exon 20 |
Nonsense |
1422C>T |
c.1220C>T |
p.Gln407X |
Pathogenic |
Hertz (2001) |
 |
| 107721000 |
Exon 20 |
Nonsense |
never used |
c.1222A>T |
p.Lys408X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107721004 |
Exon 20 |
Missense |
1428G>A |
c.1226G>A |
p.Gly409Asp |
Pathogenic |
Renieri (1996) |
 |
| 107721013 |
Exon 20 |
Missense |
1437G>T |
c.1235G>T |
p.Gly412Val |
Moderate |
Knebelmann (1996) |
 |
| 107721021 |
Exon 20 |
Missense |
1445G>A |
c.1243G>A |
p.Gly415Arg |
Pathogenic |
Martin (2000) |
 |
| 107721036 |
Exon 20 |
Deletion |
never used |
c.1254delT |
p.Pro419fs |
Pathogenic |
Nagel (2005) |
 |
| 107721037 |
Exon 20 |
Missense |
1461G>A |
c.1259G>A |
p.Gly420Glu |
Pathogenic |
Knebelmann (1996) |
 |
| 107721037 |
Exon 20 |
Missense |
1461G>T |
c.1259G>A |
p.Gly420Val |
Pathogenic |
Martin (1998) |
 |
| 107721043 |
Exon 20 |
Deletion |
1467delC |
c.1265delC |
p.Pro422fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107721046 |
Exon 20 |
Missense |
1470G>A |
c.1268G>A |
p.Gly423Glu |
Pathogenic |
Knebelmann (1996) |
 |
| 107721054 |
Exon 20 |
Missense |
never used |
c.1276G>A |
p.Gly426Arg |
Pathogenic |
Nagel (2005) |
 |
| 107721058 |
Exon 20 |
Insertion |
1482_1483insA |
c.1280_1281insA |
p.Gln427fs |
Pathogenic |
Renieri (1996) |
 |
| 107721064 |
Exon 20 |
Missense |
never used |
c.1286G>A |
p.Gly429Glu |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107721066 |
Exon 20 |
Duplication |
1486_1487insG |
c.1288_1289dupG. |
p.Ala430fs |
Pathogenic |
Wang (2005) |
 |
| 107721072 |
Exon 20 |
Missense |
never used |
c.1294G>A |
p.Gly432Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107721109 |
Exon 20 |
Missense |
1533T>G |
c.1331T>G |
p.Ile444Ser |
Benign |
Wang (2005) |
 |
| 107721445 |
Intron 20 |
Splice Site |
1542-2A>G |
c.1340-2A>G |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107721455 |
Exon 21 |
Deletion |
1552_1554delAT |
c.1350_1351delAT |
p.Ile450fs |
Pathogenic |
Plant (1999) |
 |
| 107721472 |
Exon 21 |
Deletion |
1567del9 |
c.1365del9 |
p.Pro456_Pro458del |
Pathogenic |
Renieri (1996) |
 |
| 107721473 |
Exon 21 |
Deletion |
1568_1576del |
c.1366_1374del |
p.Pro456_Pro458del |
Moderate |
Martin (1998) |
 |
| 107721478 |
Exon 21 |
Deletion |
1573-1581del |
c.1371_1379del |
p.Pro458_Gly460del |
Pathogenic |
Hertz (2001) |
 |
| 107721483 |
Exon 21 |
Deletion |
1578delC |
c.1376delC |
p.Pro459fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107721483 |
Exon 21 |
Insertion |
c.1578insC |
c.1376dup |
p.Gly460fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107721504 |
Exon 21 |
Missense |
1599G>A |
c.1397G>A |
p.Gly466Glu |
Pathogenic |
Kawai (1996) |
 |
| 107721513 |
Exon 21 |
Missense |
never used |
c.1406G>A |
p.Gly469Glu |
Pathogenic |
Nagel (2005) |
 |
| 107721521 |
Exon 21 |
Missense |
1616G>A |
c.1414G>A |
p.Gly472Arg |
Pathogenic |
Plant (1999) |
 |
| 107721530 |
Exon 21 |
Missense |
never used |
c.1423G>A |
p.Gly475Ser |
Pathogenic |
Bekheirnia (2010) |
 |
| 107721531 |
Intron 21 |
Splice Site |
1625+1G>A |
c.1423+1G>A |
p.? |
Moderate |
Martin (1998) |
 |
| 107721586 |
Intron 21 |
Splice Site |
1625+56_1625+57ins |
c.1423+56_1423+57ins |
p.? |
Pathogenic |
Wang (2005) |
 |
| 107725375 |
Intron 21 |
Splice Site |
never used |
c.1424-20 T>A |
p.? |
Moderate |
Pont-Kingdon (2009) |
 |
| 107725394 |
Intron 21 |
Splice Site |
1626-1G>A |
c.1424-1G>A |
p.Gly475_Pro505del |
Pathogenic |
Wang (2005) |
 |
| 107725395 |
Exon 22-28; 38-51 |
Large Deletion |
never used |
c.1424-?_ 2244+?del; 3374-?_5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107725443 |
Exon 22 |
Missense |
1674G>A |
c.1472G>A |
p.Gly491Glu |
Pathogenic |
Knebelmann (1996) |
 |
| 107725452 |
Exon 22 |
Missense |
1683G>A |
c.1481G>A |
p.Gly494Asp |
Pathogenic |
Renieri (1996) |
 |
| 107725454 |
Exon 22 |
Deletion |
1685del36 |
c.1483del36 |
p.Gln495_Gly506del |
Pathogenic |
Renieri (1996) |
 |
| 107725460 |
Exon 22 |
Missense |
1691G>T |
c.1489G>T |
p.Gly497Cys |
Moderate |
Knebelmann (1996) |
 |
| 107725469 |
Exon 22 |
Missense |
never used |
c.1498G>C |
p.Gly500Arg |
Moderate |
Tan (2010) |
 |
| 107725488 |
Intron 22 |
Splice Site |
never used |
c.1516+1G>A |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107725488 |
Intron 22 |
Splice Site |
never used |
c.1517-1G>T |
p.? |
Pathogenic |
Tang (2008) |
 |
| 107726909 |
Exon 23 |
Deletion |
1744_1745delAG |
c.1542_1543delAG |
p.Lys514fs |
Moderate |
Plant (1999) |
 |
| 107726928 |
Exon 23 |
Missense |
1763G>T |
c.1561G>T |
p.Gly521Cys |
Pathogenic |
Hertz (2001) |
 |
| 107726929 |
Exon 23 |
Missense |
1764G>A |
c.1562G>A |
p.Gly521Asp |
Pathogenic |
King (2006) |
 |
| 107726933 |
Exon 23 |
Deletion |
1768delA |
c.1566delA |
p.Ala522fs |
Pathogenic |
Renieri (1996) |
 |
| 107726938 |
Exon 23 |
Missense |
1773G>A |
c.1571G>A |
p.Gly524Asp |
Moderate |
Knebelmann (1996) |
 |
| 107726948 |
Exon 23 |
Deletion |
1783_1798del16 |
c.1581_1596del16 |
p.Leu528Glufs |
Pathogenic |
Plant (1999) |
 |
| 107726955 |
Intron 23 |
Splice Site |
1789+1delG |
c.1587+1delG |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107726955 |
Intron 23 |
Splice Site |
1789+1G>A |
c.1587+1G>A |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107727264 |
Exon 24 |
Missense |
never used |
c.1589G>A |
p.Gly530Asp |
Pathogenic |
Zhang (2011) |
 |
| 107727273 |
Exon 24 |
Missense |
never used |
c.1598G>A |
p.Gly533Glu |
Moderate |
Pont-Kingdon (2009) |
 |
| 107727282 |
Exon 24 |
Missense |
never used |
c.1607G>A |
p.Gly536Asp |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107727308 |
Exon 24 |
Missense |
1835G>C |
c.1633G>C |
p.Gly545Arg |
Pathogenic |
Plant (1999) |
 |
| 107727309 |
Exon 24 |
Missense |
1836G>T |
c.1634G>T |
p.Gly545Val |
Pathogenic |
Plant (1999) |
 |
| 107727318 |
Exon 24 |
Missense |
never used |
c.1643G>A |
p.Gly548Asp |
Moderate |
Pont-Kingdon (2009) |
 |
| 107727328 |
Exon 24 |
Deletion |
1855delC |
c.1653delC |
p.Leu550fs |
Pathogenic |
Wang (2005) |
 |
| 107727347 |
Exon 24 |
Missense |
1874G>C |
c.1672G>C |
p.Gly558Arg |
Pathogenic |
Barker (2001) |
 |
| 107727356 |
Exon 24 |
Missense |
1883G>A |
c.1681G>A |
p.Gly561Arg |
Pathogenic |
Plant (1999) |
 |
| 107727365 |
Exon 24 |
Missense |
never used |
c.1690G>T |
p.Gly564Cys |
Pathogenic |
Tan (2010) |
 |
| 107727375 |
Exon 24 |
Missense |
1902G>C |
c.1700G>C |
p.Gly567Ala |
Pathogenic |
Renieri (1996) |
 |
| 107727393 |
Exon 24 |
Missense |
1920G>A |
c.1718G>A |
p.Gly573Asp |
Pathogenic |
Hertz (2001) |
 |
| 107727401 |
Exon 24 |
Missense |
never used |
c.1726G>A |
p.Gly576Ser |
Moderate |
Bekheirnia (2010) |
 |
| 107727410 |
Exon 24 |
Missense |
1937G>A |
c.1735G>A |
p.Gly579Arg |
Pathogenic |
Plant (1999) |
 |
| 107727411 |
Exon 24 |
Missense |
1937G>A |
c.1736G>A |
p.Gly579Gln |
Pathogenic |
Inoue (1999) |
 |
| 107727413 |
Exon 24 |
Nonsense |
never used |
c.1738C>T |
p.Gln580X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107727414 |
Exon 24-26 |
Large Deletion |
1941del1.4kb (to 2150+98) |
c.1739_1948+98del |
p.Gln580_Gly650del |
Pathogenic |
Plant (1999) |
 |
| 107727419 |
Exon 24 |
Missense |
never used |
c.1744G>A |
p.Gly582Arg |
Pathogenic |
Ma (2011) |
 |
| 107727432 |
Exon 24 |
Deletion |
c.1959_1972del14 |
c.1757_1770del |
p.Leu586fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107727455 |
Intron 24 |
Splice Site |
1981+1G>T |
c.1779+1G>T |
p.? |
Pathogenic |
Renieri (1996) |
 |
| 107727457 |
Intron 24 |
Splice Site |
c.1981+3G>C |
c.1779+3G>C |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107728587 |
Intron 24 |
Splice Site |
1982-1G>A |
c.1780-1G>A |
p.? |
Pathogenic |
King (2006) |
 |
| 107728588 |
Exon 25 |
Missense |
1982G>A |
c.1780G>A |
p.Gly594Ser |
Moderate |
Hertz (2001) |
 |
| 107728591 |
Exon 25 |
Missense |
1985G>A |
c.1783G>A |
p.Gly595Arg |
Moderate |
Hertz (2001) |
 |
| 107728616 |
Exon 25 |
Missense |
2010G>T |
c.1808G>T |
p.Gly603Val |
Pathogenic |
Barker (2001) |
 |
| 107728633 |
Exon 25 |
Missense |
2027G>C |
c.1825G>C |
p.Gly609Arg |
Pathogenic |
Knebelmann (1996) |
 |
| 107728634 |
Exon 25 |
Missense |
2028G>T |
c.1826G>T |
p.Gly609Val |
Pathogenic |
Lemmink (1997) |
 |
| 107728643 |
Exon 25 |
Missense |
never used |
c.1835G>A |
p.Gly612Asp |
Pathogenic |
Ma (2011) |
 |
| 107728664 |
Exon 25 |
Missense/Splice Site |
never used |
c.1856C>T |
p.Pro619Leu |
Moderate |
Tazon-Vega (2007) |
 |
| 107728669 |
Exon 25 |
Missense |
2063G>T |
c.1861G>T |
p.Gly621Cys |
Pathogenic |
Knebelmann (1996) |
 |
| 107728679 |
Exon 25 |
Missense |
2073G>A |
c.1871G>A |
p.Gly624Asp |
Moderate |
Slajpah (2007) |
 |
| 107728685 |
Exon 25 |
Missense |
2079G>C |
c.1877G>C |
p.Gly626Ala |
Moderate |
Hertz (2001) |
 |
| 107728691 |
Exon 25 |
Missense |
never used |
c.1883C>T |
p.Proy628Leu |
Moderate |
Demosthenous (2011) |
 |
| 107728694 |
Exon 25 |
Missense |
2088G>A |
c.1886G>A |
p.Gly629Asp |
Pathogenic |
Barker (2001) |
 |
| 107728703 |
Exon 25 |
Missense |
2097G>A |
c.1895G>A |
p.Gly632Asp |
Pathogenic |
Knebelmann (1996) |
 |
| 107728705 |
Exon 25 |
Missense |
2099G>A |
c.1897G>A |
p.Glu633Lys |
Moderate |
Inoue (1999) |
 |
| 107728712 |
Exon 25 |
Missense |
2106G>A |
c.1904G>A |
p.Gly635Asp |
Pathogenic |
Martin (1998) |
 |
| 107728720 |
Exon 25 |
Missense |
2114G>A |
c.1912G>A |
p.Gly638Ser |
Pathogenic |
Plant (1999) |
 |
| 107728721 |
Exon 25 |
Missense |
2115G>C |
c.1913G>C |
p.Gly638Ala |
Pathogenic |
Plant (1999) |
 |
| 107728721 |
Exon 25 |
Missense |
2115G>T |
c.1913G>T |
p.Gly638Val |
Pathogenic |
Plant (1999) |
 |
| 107728756 |
Intron 25 |
Splice Site |
2150+1G>A |
c.1948+1G>A |
p.? |
Pathogenic |
Wang (2005) |
 |
| 107731279 |
Exon 26-29 |
Large Deletion |
never used |
c1949-?_2395+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107731279 |
Exon 26-37 |
Large Deletion |
never used |
c.1949-?_ 3373+?del |
p.? |
Pathogenic |
Hertz (2008) |
 |
| 107731287 |
Exon 26 |
Missense |
2159G>A |
c.1957G>A |
p.Gly653Arg |
Pathogenic |
Plant (1999) |
 |
| 107731290 |
Exon 26 |
Deletion |
2162delG |
c.1960delG |
p.Asp654fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107731327 |
Exon 26 |
Missense |
2194G>T |
c.1992G>T |
p.Lys664Asn |
Benign |
Slajpah (2007) |
 |
| 107731327 |
Exon 26 |
Missense |
2199G>A |
c.1997G>A |
p.Gly666Asp |
Pathogenic |
Slajpah (2007) |
 |
| 107731335 |
Exon 26 |
Missense |
2207G>C |
c.2005A>G |
p.Gly669Arg |
Pathogenic |
Wang (2005) |
 |
| 107731336 |
Exon 26 |
Missense |
2208G>C |
c.2006G>C |
p.Gly669Ala |
Pathogenic |
Plant (1999) |
 |
| 107731344 |
Exon 26 |
Missense |
never used |
c.2014G>C |
p.Gly672Ser |
Pathogenic |
Ma (2011) |
 |
| 107731348 |
Exon 26 |
Deletion |
2220delG |
c.2018delG |
p.Arg673fs |
Pathogenic |
Renieri (1996) |
 |
| 107731353 |
Exon 26 |
Missense |
never used |
c.2023G>A |
p.Gly675Ser |
Pathogenic |
Nagel (2005) |
 |
| 107731372 |
Intron 26 |
Splice Site |
2243+1G>T |
c.2041+1G>T |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107731753 |
Intron 26 |
Splice Site |
never used |
c.2042-18A>G |
p.? |
Pathogenic |
Savige (2008) |
 |
| 107731771 |
Exon 27 |
Missense |
2244G>A |
c.2042G>A |
p.Gly681Asp |
Pathogenic |
Knebelmann (1996) |
 |
| 107731779 |
Exon 27 |
Nonsense |
2252G>T |
c.2050G>T |
p.Gly684X |
Pathogenic |
Plant (1999) |
 |
| 107731780 |
Exon 27 |
Missense |
2253G>T |
c.2051G>T |
p.Gly684Val |
Moderate |
Kawai (1996) |
 |
| 107731784 |
Exon 27 |
Silent |
2257T>C |
c.2055T>C |
p.= |
Benign |
Barker (2001) |
 |
| 107731786 |
Exon 27 |
Deletion |
never used |
c.2057delC |
p.Pro686fs |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107731789 |
Exon 27 |
Missense |
2262G>A |
c.2060G>A |
p.Gly687Glu |
Pathogenic |
Plant (1999) |
 |
| 107731791 |
Exon 27 |
Duplication |
never used |
c.2062_2114dup |
p.Ile706Asnfs |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107731827 |
Exon 27 |
Nonsense |
never used |
c.2098G>T |
p.Glu700X |
Pathogenic |
Hertz (2008) |
 |
| 107731836 |
Exon 27 |
Missense |
2309A>G |
c.2107A>G |
p.Ile703Val |
Benign |
Wang (2005) |
 |
| 107731875 |
Exon 27 |
Missense |
2348G>C |
c.2146G>C |
p.Gly716Arg |
Pathogenic |
Kawai (1996) |
 |
| 107731878 |
Intron 27 |
Splice Site |
never used |
c.2146+3A>C |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107732847 |
Intron 27 |
Splice Site |
2349-3C>G |
c.2147-3C>G |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107732848 |
Intron 27 |
Splice Site |
never used |
c.2147-2A>G |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107732850 |
Exon 28 |
Deletion |
2349delG |
c.2147delG |
p.Gly716 fs |
Pathogenic |
Martin (1998) |
 |
| 107732850 |
Exon 28 |
Deletion |
2349delG |
c.2147delG |
p.Gly716fs |
Pathogenic |
Martin (1998) |
 |
| 107732850 |
Exon 28-32 |
Large Duplication |
never used |
c.2147-?_ 2767+?dup |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107732858 |
Exon 28 |
Missense |
never used |
c.2155G>C |
p.Gly719Arg |
Moderate |
Pont-Kingdon (2009) |
 |
| 107732867 |
Exon 28 |
Missense |
never used |
c.2164G>C |
p.Gly722Arg |
Pathogenic |
Ma (2011) |
 |
| 107732868 |
Exon 28 |
Missense |
2367G>A |
c.2165G>A |
p.Gly722Glu |
Pathogenic |
Barker (2001) |
 |
| 107732909 |
Exon 28 |
Deletion |
2408_2428del21 |
c.2206_2226del21 |
p.Glu736_Pro742del |
Pathogenic |
King (2006) |
 |
| 107732918 |
Exon 28 |
Missense |
never used |
c.2215C>T |
p.Pro739Ser |
Pathogenic |
Cheong (2000) |
 |
| 107732922 |
Exon 28 |
Missense |
2421G>A |
c.2219G>A |
p.Gly740Glu |
Pathogenic |
Kawai (1996) |
 |
| 107732931 |
Exon 28 |
Missense |
2430G>A |
c.2228G>A |
p.Gly743Asp |
Pathogenic |
Plant (1999) |
 |
| 107732948 |
Intron 28 |
Splice Site |
c.2446+1G>T |
c.2244+1G>T |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107732949 |
Intron 28 |
Splice Site |
2446+2T>C |
c.2244+2T>G |
p.? |
Pathogenic |
King (2006) |
 |
| 107736627 |
Intron 28 |
Splice Site |
2447-1G>A |
c.2245-1G>A |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107736670 |
Exon 29 |
Missense |
never used |
c.2287G>A |
p.Gly763Arg |
Pathogenic |
Nagel (2005) |
 |
| 107736671 |
Exon 29 |
Missense |
never used |
c.2288G>A |
p.Gly763Glu |
Moderate |
Pont-Kingdon (2009) |
 |
| 107736680 |
Exon 29 |
Missense |
2499G>A |
c.2297G>A |
p.Gly766Asp |
Moderate |
Hertz (2001) |
 |
| 107736688 |
Exon 29 |
Missense |
never used |
c.2305G>A |
p.Gly769Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107736698 |
Exon 29 |
Missense |
2517G>A |
c.2315G>A |
p.Gly772Asp |
Pathogenic |
Kawai (1996) |
 |
| 107736698 |
Exon 29 |
Missense |
never used |
c.2315G>C |
p.Gly772Ala |
Pathogenic |
Bekheirnia (2010) |
 |
| 107736701 |
Exon 29 |
Insertion |
2524_2525insA |
c.2322_2123insA |
p.Gly775fs |
Pathogenic |
Hertz (2001) |
 |
| 107736715 |
Exon 29 |
Missense |
2534G>A |
c.2332G>A |
p.Gly776Ser |
Moderate |
Plant (1999) |
 |
| 107736731 |
Exon 29 |
Deletion |
2550delC |
c.2348delC |
p.Pro783fs |
Pathogenic |
Martin (1998) |
 |
| 107736732 |
Exon 29 |
Silent |
2551G>A |
c.2349G>A |
p.= |
Benign |
Barker (2001) |
 |
| 107736743 |
Exon 29 |
Missense |
2562G>T |
c.2360G>T |
p.Gly787Val |
Pathogenic |
King (2006) |
 |
| 107736769 |
Exon 29 |
Missense |
2588G>A |
c.2386G>A |
p.Gly796Arg |
Pathogenic |
Plant (1999) |
 |
| 107736777 |
Exon 29 |
Splice Site |
c.2596A>G |
c.2394A>G |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107736780 |
Intron 29 |
Splice Site |
2597+2delT |
c.2395+2delT |
p.? |
Pathogenic |
Renieri (1996) |
 |
| 107739528 |
Intron 29 |
Splice site |
c.2395+2750 A>C |
c.2395+2733 A>C |
p.? |
Pathogenic |
King (2002) |
 |
| 107744805 |
Exon 30 |
Deletion |
2606-2623del |
c.2404-2421del18 |
p.Gly802_Pro807del |
Pathogenic |
Hertz (2001) |
 |
| 107744805 |
Exon 30 |
Missense |
2606G>A |
c.2404G>A |
p.Gly802Arg |
Pathogenic |
Knebelmann (1996) |
 |
| 107744824 |
Exon 30 |
Missense |
2625G>A |
c.2423G>A |
p.Gly808Glu |
Moderate |
Plant (1999) |
 |
| 107744832 |
Exon 30 |
Missense |
2633G>A |
c.2431G>A |
p.Gly811Arg |
Pathogenic |
Slajpah (2007) |
 |
| 107744833 |
Exon 30 |
Missense |
2634G>T |
c.2432G>T |
p.Gly811Val |
Pathogenic |
Knebelmann (1996) |
 |
| 107744835 |
Exon 30 |
Indel |
2636delCCTCCTGG insAACCTGGACCAA TGGGACCAATGGGA ACAC;2636del8ins30 |
c.2434delCCTCCTGG insAACCTGGACCAA TGGGACCAATGGGA ACAC;2636del8ins30 |
p.Pro812fs |
Pathogenic |
Martin (1998) |
 |
| 107744853 |
Exon 30 |
Indel |
2654_2656delATA/ 2653_2654insT |
c.2452_2454delATA/ 2451_2452insT |
p.Ile818fs |
Pathogenic |
Hertz (2001) |
 |
| 107744865 |
Exon 30 |
Deletion |
2666_2674del9 |
c.2464_2472del9 |
p.Gly822_Pro824del |
Pathogenic |
Plant (1999) |
 |
| 107744865 |
Exon 30 |
Missense |
2666G>C |
c.2464G>C |
p.Gly822Arg |
Moderate |
Cruz-Robles (1999) |
 |
| 107744866 |
Exon 30 |
Missense |
|
c.2465G>C |
p.Gly822Val |
Pathogenic |
Jovanovic (2013) |
 |
| 107744874 |
Exon 30 |
Nonsense |
never used |
c.2473G>T |
p.Gly825X |
Pathogenic |
Tan (2010) |
 |
| 107744876 |
Exon 30 |
Deletion |
c.2677_2685del9 |
c.2475_2483 delACCACCAGG |
p.Pro826_Gly828del |
Pathogenic |
Bekheirnia (2010) |
 |
| 107744877 |
Exon 30 |
Deletion |
never used |
c.2476delC |
p.Pro826fs |
Moderate |
Pont-Kingdon (2009) |
 |
| 107744884 |
Exon 30 |
Missense |
never used |
c.2483G>A |
p.Gly828Glu |
Pathogenic |
Ma (2011) |
 |
| 107744901 |
Exon 30 |
Missense |
never used |
c.2500G>C |
p.Gly834Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107744910 |
Exon 30 |
Splice Site |
never used |
c.2509G>A |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107750112 |
Intron 30 |
Splice Site |
2712-33A>G |
c.2510-33A>G |
p.? |
Moderate |
Barker (2001) |
 |
| 107750145 |
Exon 31 |
Deletion |
2712delG |
c.2510delG |
p.Gly837fs |
Pathogenic |
King (2006) |
 |
| 107750145 |
Exon 31-36 |
Large Deletion |
never used |
c2510-?_3246+?del |
p.? |
Pathogenic |
King (2006) |
 |
| 107750145 |
Exon 31 |
Large Deletion |
c.2712-?_2789+?del |
c.2510-?_2677+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107750185 |
Exon 31 |
Deletion |
2752_2775del |
c.2550_2573del |
p.Pro851_Pro858del |
Pathogenic |
Wang (2005) |
 |
| 107750189 |
Exon 31 |
Missense |
2756G>A |
c.2554G>A |
p.Gly852Arg |
Pathogenic |
Kawai (1996) |
 |
| 107750190 |
Exon 31 |
Missense |
2757G>A |
c.2555G>A |
p.Gly852Glu |
Pathogenic |
Plant (1999) |
 |
| 107750213 |
Exon 31 |
Missense |
never used |
c.2578G>C |
p.Gly860Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107750222 |
Exon 31 |
Indel |
never used |
c.2587_2606delins75 |
p.? |
Pathogenic |
Ma (2011) |
 |
| 107750224 |
Exon 31 |
Deletion |
2791del36 |
c.2589del36 |
p.Ser864_Gly875del |
Pathogenic |
Martin (2000) |
 |
| 107750230 |
Exon 31 |
Deletion |
2797-2814del18 |
c.2595_2612del18 |
p.Gly866_Pro871del |
Pathogenic |
Gross (2002) |
 |
| 107750232 |
Exon 31 |
Missense |
2799G>A |
c.2597G>A |
p.Gly866Glu |
Moderate |
Renieri (1996) |
 |
| 107750240 |
Exon 31 |
Missense |
2807G>A |
c.2605G>A |
p.Gly869Arg |
Moderate |
Plant (1999) |
 |
| 107750249 |
Exon 31 |
Missense |
2816G>C |
c.2614G>C |
p.Gly872Arg |
Pathogenic |
Plant (1999) |
 |
| 107750258 |
Exon 31 |
Missense |
never used |
c.2623G>C |
p.Gly875Arg |
Pathogenic |
Ma (2011) |
 |
| 107750259 |
Exon 31 |
Missense |
never used |
c.2624G>A |
p.Gly875Glu |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107750260 |
Exon 31 |
Deletion |
2827delA |
c.2625delA |
p.Gly875fs |
Pathogenic |
Plant (1999) |
 |
| 107750268 |
Exon 31 |
Missense |
2835G>T |
c.2633G>T |
p.Gly878Arg |
Pathogenic |
Plant (1999) |
 |
| 107750278 |
Exon 31 |
Deletion |
2845delG |
c.2643delG |
p.Leu882fs |
Pathogenic |
Barker (2001) |
 |
| 107750294 |
Exon 31 |
Missense |
never used |
c.2659G>C |
p.Gly887Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107750295 |
Exon 31 |
Missense |
never used |
c.2660G>T |
p.Gly887Val |
Pathogenic |
Nagel (2005) |
 |
| 107751679 |
Intron 31 |
Splice site |
never used |
c.2678-10 T>G |
p.Gly893_Gly923 del |
Pathogenic |
King (2002) |
 |
| 107751689 |
Exon 32 |
Missense |
never used |
p.2678G>T |
p.Gly893Val |
Pathogenic |
Bekheirnia (2010) |
 |
| 107751689 |
Exon 32-36 |
Large Deletion |
never used |
c.2678-?_3246+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107751698 |
Exon 32 |
Deletion |
c.2888delG |
c.2686delG |
p.Gly896fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107751703 |
Exon 32 |
Missense |
2894A>G |
c.2692A>G |
p.Met898Val |
Moderate |
Barker (2001) |
 |
| 107751707 |
Exon 32 |
Deletion |
never used |
c.2696_2705del |
p .Gly899fs |
Pathogenic |
Zhang (2011) |
 |
| 107751707 |
Exon 32 |
Missense |
never used |
c.2696G>T |
p .Gly899Val |
Pathogenic |
Ma (2011) |
 |
| 107751716 |
Exon 32 |
Missense |
never used |
c.2705G>A |
p .Gly902Val |
Pathogenic |
Cheong (2000) |
 |
| 107751719 |
Exon 32 |
Duplication |
never used |
c.2708dup |
p.Pro904fs |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107751733 |
Exon 32 |
Missense |
never used |
c.2722G>A |
p.Gly908Arg |
Pathogenic |
Tan (2010) |
 |
| 107751742 |
Exon 32 |
Missense |
never used |
c.2731G>A |
p.Gly911Arg |
Pathogenic |
Bekheirnia (2010) |
 |
| 107751743 |
Exon 32 |
Missense |
never used |
c.2732G>A |
p .Gly911Glu |
Pathogenic |
Cheong (2000) |
 |
| 107751757 |
Exon 32 |
Indel |
2948del13insAT |
c.2746del13insAT |
p.Ser916fs |
Pathogenic |
Plant (1999) |
 |
| 107751757 |
Exon 32 |
Missense |
2948A>G |
c.2746A>G |
p.Ser916Gly |
Pathogenic |
Barker (2001) |
 |
| 107751780 |
Intron 32 |
Deletion |
never used |
c.2767+2delT |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107752551 |
Intron 32 |
Splice Site |
2970-11A>G |
c.2768-11A>G |
p.? |
Benign |
Barker (2001) |
 |
| 107752576 |
Exon 33 |
Nonsense |
never used |
c.2782C>T |
p.Gln928X |
Moderate |
Bekheirnia (2010) |
 |
| 107752582 |
Exon 33 |
Nonsense |
2990C>T |
c.2788C>T |
p.Gln930X |
Pathogenic |
Wang (2005) |
 |
| 107752596 |
Exon 33 |
Insertion |
3004_3005insT |
c.2802_2803insT |
p.Gly935fs |
Pathogenic |
Hertz (2001) |
 |
| 107752598 |
Exon 33 |
Missense |
never used |
c.2804G>A |
p.Gly935Asp |
Pathogenic |
Nagel (2005) |
 |
| 107752615 |
Exon 33 |
Missense |
3023G>T |
c.2821G>T |
p.Gly941Cys |
Moderate |
Hertz (2001) |
 |
| 107752617 |
Exon 33 |
Deletion |
3025delTAG |
c.2823_2825delTAG |
p.Ser942del |
Pathogenic |
Renieri (1996) |
 |
| 107752634 |
Exon 33 |
Missense |
3042 G>A |
c.2840G>A |
p.Gly947Asp |
Pathogenic |
Inoue (1999) |
 |
| 107752640 |
Exon 33 |
Deletion |
3048delC |
c.2846delC |
p.Pro949fs |
Pathogenic |
King (2006) |
 |
| 107752652 |
Exon 33 |
Missense |
3060G>T |
c.2858G>T |
p.Gly953Val |
Pathogenic |
Knebelmann (1996) |
 |
| 107752712 |
Intron 33 |
Splice Site |
3119+1G>C |
c.2917+1G>C |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107752712 |
Intron 33 |
Splice Site |
c.3119+1G>T |
c.2917+1G>T |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107754121 |
Intron 33 |
Splice Site |
3120-1G>T |
c.2918-1G>T |
p.? |
Moderate |
Knebelmann (1996) |
 |
| 107754122 |
Exon 34-51 |
Large Deletion |
never used |
c.2918-?_5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107754133 |
Exon 34 |
Deletion |
3131delAG |
c.2929delAG |
p.Val977fs |
Pathogenic |
Plant (1999) |
 |
| 107754144 |
Exon 34 |
Deletion |
3142delA |
c.2940delA |
p.Pro980fs |
Pathogenic |
Renieri (1996) |
 |
| 107754147 |
Exon 34 |
Deletion |
3145delA |
c.2943delA |
p.Lys981fs |
Pathogenic |
Peissel (1994) |
 |
| 107754151 |
Exon 34 |
Deletion |
never used |
c.2947del |
p.Tyr983fs |
Pathogenic |
Demosthenous (2011) |
 |
| 107754163 |
Exon 34 |
Deletion |
3161_3178del18 |
c.2959_2976del18 |
p.Pro987-Gln992del |
Pathogenic |
Plant (1999) |
 |
| 107754169 |
Exon 34 |
Deletion |
3167delG |
c.2965delG |
p.Asp989fs |
Pathogenic |
Lemmink (1997) |
 |
| 107754203 |
Exon 34 |
Missense |
never used |
c.2999G>T |
p.Gly1000Val |
Benign |
Kaneko (2010) |
 |
| 107754221 |
Intron 34 |
Splice Site |
3218+1G>T |
c.3016+1G>T |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107755586 |
Intron 34 |
Splice Site |
never used |
c.3017-4A>G |
p.? |
Pathogenic |
Ma (2011) |
 |
| 107755590 |
Intron 34 |
Splice Site |
3219-1G>A |
c.3017-1G>A |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107755591 |
Exon 35 |
Missense |
3219G>T |
c.3017G>T |
p.Gly1006Val |
Moderate |
Barker (2001) |
 |
| 107755591 |
Exon 35-36 |
Large Deletion |
never used |
c.3017-?_3246+?del |
p.? |
Pathogenic |
King (2006) |
 |
| 107755618 |
Exon 35 |
Missense |
3246G>T |
c.3044G>T |
p.Gly1015Val |
Pathogenic |
Knebelmann (1996) |
 |
| 107755620 |
Exon 35 |
Nonsense |
3248C>T |
c.3046C>T |
p.Gln1016X |
Pathogenic |
Knebelmann (1996) |
 |
| 107755620 |
Exon 35 |
Deletion |
never used |
c.3046delC |
p.Gln1016fs |
Pathogenic |
Ma (2011) |
 |
| 107755631 |
Exon 35 |
Deletion |
3259delT |
c.3057delT |
p.Leu1019fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107755654 |
Exon 35 |
Missense |
3282G>T |
c.3080G>T |
p.Gly1027Val |
Pathogenic |
Wang (2005) |
 |
| 107755662 |
Exon 35 |
Missense |
3290G>A |
c.3088G>A |
p.Gly1030Ser |
Moderate |
Martin (1998) |
 |
| 107755684 |
Intron 35 |
Splice Site |
never used |
c.3106+4delA; 3106+6_17del TGATGAAAATCT |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107756094 |
Intron 35 |
Splice Site |
3309-2A>G |
c.3107-2A>G |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107756096 |
Exon 36 |
Missense |
3309G>T |
c.3107G>T |
p.Gly1036Val |
Pathogenic |
Knebelmann (1996) |
 |
| 107756104 |
Exon 36 |
Missense |
3317G>A |
c.3115G>A |
p.Gly1039Ser |
Pathogenic |
Knebelmann (1996) |
 |
| 107756123 |
Exon 36 |
Missense |
3336G>A |
c.3134G>A |
p.Gly1045Glu |
Pathogenic |
Martin (2000) |
 |
| 107756156 |
Exon 36 |
Deletion |
c.3369delC |
c.3167del C |
p.Pro1056fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107756158 |
Exon 36 |
Nonsense |
3371G>T |
c.3169G>T |
p.Gly1057X |
Pathogenic |
Knebelmann (1996) |
 |
| 107756167 |
Exon 36 |
Nonsense |
3380G>T |
c.3178G>T |
p.Gly1060X |
Pathogenic |
Martin (1998) |
 |
| 107756170 |
Exon 36 |
Nonsense |
3383C>T |
c.3181C>T |
p.Gln1061X |
Pathogenic |
Plant (1999) |
 |
| 107756177 |
Exon 36 |
Missense |
never used |
c.3188G>T |
p.Gly1063Val |
Pathogenic |
Nagel (2005) |
 |
| 107756185 |
Exon 36 |
Missense |
3398G>C |
c.3196G>C |
p.Gly1066Arg |
Pathogenic |
Knebelmann (1996) |
 |
| 107756185 |
Exon 36 |
Missense |
3398G>A |
c.3196G>A |
p.Gly1066Ser |
Pathogenic |
Martin (1998) |
 |
| 107756186 |
Exon 36 |
Missense |
3399G>C |
c.3197G>C |
p.Gly1066Ala |
Pathogenic |
Barker (2001) |
 |
| 107756195 |
Exon 36 |
Missense |
never used |
c.3206G>T |
p.Gly1069Val |
Pathogenic |
Bekheirnia (2010) |
 |
| 107756201 |
Exon 36 |
Nonsense |
3414C>G |
c.3212C>G |
p.Ser1071X |
Pathogenic |
Hertz (2001) |
 |
| 107785217 |
Exon 36 |
Missense |
never used |
c.3247G>A |
p.Gly1083Ser |
Pathogenic |
Nagel (2005) |
 |
| 107785217 |
Exon 37 |
Deletion |
never used |
c.3247-?_ 3373+?del |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107785217 |
Exon 37-45 |
Large Deletion |
never used |
c3247-?_4198+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107785217 |
Exon 37-51 |
Large Deletion |
never used |
c.3247-?_ 5058+?del |
p.? |
Pathogenic |
Nozu (2008) |
 |
| 107785217 |
Exon 37 |
Large Deletion |
never used |
c.3247-?_3373+?del |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107785225 |
Exon 37 |
Silent |
3457G>A |
c.3255T>A |
p.= |
Benign |
Inoue (1999) |
 |
| 107785226 |
Exon 37 |
Missense |
never used |
c.3256G>C |
p.Gly1086Arg |
Moderate |
Tazon-Vega (2007) |
 |
| 107785227 |
Exon 37 |
Missense |
3459G>A |
c.3257G>A |
p.Gly1086Asp |
Pathogenic |
Martin (2000) |
 |
| 107785259 |
Exon 37 |
Nonsense |
3491A>T |
c.3289A>T |
p.Lys1097X |
Pathogenic |
Martin (1998) |
 |
| 107785281 |
Exon 37 |
Missense |
3513G>T |
c.3311G>T |
p.Gly1104Val |
Pathogenic |
Kawai (1996) |
 |
| 107785289 |
Exon 37 |
Missense |
3521G>A |
c.3319G>A |
p.Gly1107Arg |
Pathogenic |
Plant (1999) |
 |
| 107785296 |
Exon 37 |
Insertion |
c.3528insT |
c.3326_7insT |
p.Gly1110fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107785301 |
Exon 37 |
Deletion |
3533delA |
c.3331delA |
p.Thr1111fs |
Pathogenic |
Renieri (1996) |
 |
| 107785307 |
Exon 37 |
Insertion |
3539_3540insCCTG |
c.3337_3338insCCTG |
p.Gly1113fs |
Pathogenic |
Renieri (1996) |
 |
| 107785317 |
Exon 37 |
Missense |
never used |
c.3347G>T |
p.Gly1116Val |
Moderate |
Bekheirnia (2010) |
 |
| 107785344 |
Intron 37 |
Splice Site |
c.3575+1G>A |
c.3373+1G>A |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107795382 |
Intron 37 |
Splice Site |
3576-11C>A |
c.3374-11C>A |
p.? |
Pathogenic |
Martin (2000) |
 |
| 107795393 |
Exon 38-41 |
Large Deletion |
never used |
c.3374-?_3790+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107795393 |
Exon 38-46 |
Insertion |
never used |
not available |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107795393 |
Exon 38-51 |
Large Deletion |
never used |
c.3374-?_5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107795393 |
Exon 38-51 |
Large Duplication |
never used |
c.3374-?_ 5058+?dup |
p.? |
Moderate |
Lemmink (1997) |
 |
| 107795422 |
Exon 38 |
Indel |
c.3605del16ins3 |
c.3403_3418delins3 |
p.Ile1135fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107795432 |
Exon 38 |
Deletion |
3615delC |
c.3413delC |
p.Pro1138fs |
Pathogenic |
Slajpah (2007) |
 |
| 107795446 |
Exon 38 |
Missense |
3629G>A |
c.3427G>A |
p.Gly1143Ser |
Moderate |
Renieri (1996) |
 |
| 107795447 |
Exon 38 |
Missense |
3630G>A |
c.3428G>A |
p.Gly1143Asp |
Pathogenic |
Hertz (2001) |
 |
| 107795474 |
Intron 38 |
Splice Site |
3656+1G>T |
c.3454+1G>T |
p.? |
Pathogenic |
Hertz (2001) |
 |
| 107796373 |
Intron 38 |
Splice Site |
3657-9A>G |
c.3455-9A>G |
p.? |
Moderate |
Martin (2000) |
 |
| 107796399 |
Exon 39 |
Missense |
3674 1G>T |
c.3472 1G>T |
p.Gly1158Arg |
Pathogenic |
Inoue (1999) |
 |
| 107796401 |
Exon 39 |
Deletion |
3676delG |
c.3474delG |
p.Gly1158fs |
Pathogenic |
Hertz (2001) |
 |
| 107796408 |
Exon 39 |
Missense |
3683G>A |
c.3481G>A |
p.Gly1161Arg |
Pathogenic |
Plant (1999) |
 |
| 107796426 |
Exon 39 |
Missense |
3701G>A |
c.3499G>A |
p.Gly1167Ser |
Moderate |
Martin (2000) |
 |
| 107796435 |
Exon 39 |
Missense |
3710G>A |
c.3508G>A |
p.Gly1170Ser |
Moderate |
Inoue (1999) |
 |
| 107796436 |
Exon 39 |
Deletion |
3711delG |
c.3509delG |
p.Gly1170fs |
Pathogenic |
Renieri (1996) |
 |
| 107796440 |
Exon 39 |
Silent |
3715A>G |
c.3513A>G |
p.= |
Benign |
Barker (2001) |
 |
| 107796454 |
Exon 39 |
Deletion |
3729delG |
c.3527delG |
p.Gly1176fs |
Pathogenic |
Martin (1998) |
 |
| 107796462 |
Exon 39 |
Missense |
never used |
c.3535G>A |
p.Gly1179Arg |
Pathogenic |
Nagel (2005) |
 |
| 107796465 |
Exon 39 |
Nonsense |
3740C>T |
c.3538C>T |
p.Gln1180X |
Pathogenic |
Knebelmann (1996) |
 |
| 107796470 |
Exon 39 |
Deletion |
3745_3751 delGGGTGAA |
c.3543_3549 delGGGTGAA |
p.Lys1181fs |
Pathogenic |
Renieri (1996) |
 |
| 107796471 |
Exon 39 |
Missense |
3746G>C |
c.3544G>C |
p.Gly1182Arg |
Pathogenic |
Kawai (1996) |
 |
| 107797010 |
Intron 39 |
Splice Site |
3756-9C>G |
c.3554-9C>G |
p.? |
Pathogenic |
Martin (1998) |
 |
| 107797016 |
Intron 39 |
Splice Site |
3756-3C>G |
c.3554-3C>G |
p.? |
Moderate |
Martin (1998) |
 |
| 107797018 |
Intron 39 |
Splice Site |
3756-1G>A |
c.3554-1G>A |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107797019 |
Exon 40 |
Deletion |
never used |
c.3554-?_3604+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107797050 |
Exon 40 |
Silent |
3784G>A |
c.3582C>T |
p.= |
Benign |
Inoue (1999) |
 |
| 107797051 |
Exon 40 |
Missense |
3788G>A |
c.3586G>A |
p.Gly1196Arg |
Pathogenic |
Martin (1998) |
 |
| 107797052 |
Exon 40 |
Missense |
never used |
c.3587G>A |
p.Gly1196Glu |
Pathogenic |
Bekheirnia (2010) |
 |
| 107797072 |
Intron 40 |
Splice Site |
never used |
c.3604+3T>A |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107798202 |
Intron 40 |
Splice Site |
3807-3A>T |
c.3605-3A>T |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107798203 |
Intron 40 |
Splice Site |
3807-2A>G |
c.3605-2A>G |
p.? |
Pathogenic |
Gross (2002) |
 |
| 107798204 |
Intron 40 |
Splice Site |
3807-1G>A |
c.3605-1G>A |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107798205 |
Exon 41-51 |
Large Deletion |
never used |
c.3605-?_5058+?del |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107798213 |
Exon 41 |
Missense |
3815G>T |
c.3613G>T |
p.Gly1205Cys |
Pathogenic |
Knebelmann (1996) |
 |
| 107798213 |
Exon 41 |
Missense |
never used |
c.3613G>A |
p.Gly1205Ser |
Pathogenic |
Bekheirnia (2010) |
 |
| 107798218 |
Exon 41 |
Deletion |
3820_3824delTGGA |
c.3618_3622delTGGA |
p.Asp1206fs |
Pathogenic |
Renieri (1996) |
 |
| 107798231 |
Exon 41 |
Missense |
3833G>C |
c.3631G>C |
p.Gly1211Arg |
Pathogenic |
Plant (1999) |
 |
| 107798232 |
Exon 41 |
Missense |
3834G>A |
c.3632G>A |
p.Gly1211Glu |
Pathogenic |
Knebelmann (1996) |
 |
| 107798241 |
Exon 41 |
Missense |
never used |
c.3641G>A |
p.Gly1214Glu |
Pathogenic |
Nagel (2005) |
 |
| 107798247 |
Exon 41 |
Deletion |
3849delC |
c.3647delC |
p.Pro1216fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107798257 |
Exon 41 |
Deletion |
3859_3930del |
c.3657_3728del |
p.Gly1220_Pro1243del |
Pathogenic |
Hertz (2001) |
 |
| 107798259 |
Exon 41 |
Missense |
3861G>A |
c.3659G>A |
p.Gly1220Asp |
Pathogenic |
Plant (1999) |
 |
| 107798268 |
Exon 41 |
Missense |
never used |
c.3668G>T |
p.Gly1223Val |
Pathogenic |
Nagel (2005) |
 |
| 107798286 |
Exon 41 |
Missense |
never used |
c.3686G>A |
p.Gly1229Asp |
Moderate |
Cheong (2000) |
 |
| 107798292 |
Exon 41 |
Deletion |
3894delC |
c.3692del |
p.Pro1231fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107798292 |
Exon 41 |
Insertion |
c.3894insC |
c.3692dup |
p.Gly1232fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107798294 |
Exon 41 |
Missense |
3896G>A |
c.3694G>A |
p.Gly1232Ser |
Pathogenic |
Wang (2005) |
 |
| 107798300 |
Exon 41 |
Nonsense |
never used |
c.3700C>T |
p.Gln1234X |
Moderate |
Pont-Kingdon (2009) |
 |
| 107798306 |
Exon 41 |
Indel |
c.3908_3924delinsT |
c.3706_3722delinsT |
p.Pro236fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107798310 |
Exon 41 |
Deletion |
3912del52 |
c.3710_3761del52 |
p.Pro1237fs |
Pathogenic |
Kawai (1996) |
 |
| 107798310 |
Exon 41 |
Insertion |
3912_3913insCC |
c.3710_3711insCC |
p.Pro1237fs |
Pathogenic |
Plant (1999) |
 |
| 107798321 |
Exon 41 |
Missense |
3923 G>T |
c.3721G>T |
p.Gly1241Cys |
Pathogenic |
Lemmink (1997) |
 |
| 107798322 |
Exon 41 |
Missense |
never used |
c.3722G>T |
p.Gly1241Val |
Pathogenic |
Bekheirnia (2010) |
 |
| 107798331 |
Exon 41 |
Missense |
3933G>A |
c.3731G>A |
p.Gly1244Asp |
Moderate |
Barker (2001) |
 |
| 107798354 |
Exon 41 |
Missense |
3956G>A |
c.3754G>A |
p.Gly1252Ser |
Moderate |
Knebelmann (1996) |
 |
| 107798357 |
Exon 41 |
Insertion |
3959_3960insGGCA |
c.3757_3758insGGCA |
p.Asn1253fs |
Pathogenic |
Kawai (1996) |
 |
| 107798363 |
Exon 41 |
Missense |
3965G>A |
c.3763G>A |
p.Gly1255Arg |
Pathogenic |
Hertz (2001) |
 |
| 107798382 |
Exon 41 |
Missense |
3984G>A |
c.3782G>A |
p.Gly1261Glu |
Pathogenic |
Martin (1998) |
 |
| 107798391 |
Intron 41 |
Splice Site |
3992+1delG |
c.3790+1delG |
p.? |
Pathogenic |
Knebelmann (1996) |
 |
| 107807386 |
Exon 42-47 |
Large Deletion |
never used |
c.3791-?_3924+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107807403 |
Exon 42 |
Missense |
4010G>A |
c.3808G>A |
p.Gly1270Ser |
Moderate |
Hertz (2001) |
 |
| 107807409 |
Exon 42 |
Deletion |
4016delC |
c.3814delC |
p.Pro1272fs |
Pathogenic |
Renieri (1996) |
 |
| 107807432 |
Exon 42 |
Indel |
never used |
c.3837_3845del; 3853_3854insA |
p.Gly1279fs |
Pathogenic |
Zhang (2011) |
 |
| 107807464 |
Exon 42 |
Insertion |
never used |
c.3869_3870 ins AACC |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107807515 |
Exon 42 |
Deletion |
4122delT |
c.3920delT |
p.Leu1307fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107807519 |
Exon 42 |
Missense |
never used |
c.3924G>C |
p.Gln1308His |
Pathogenic |
Bekheirnia (2010) |
 |
| 107810520 |
Intron 42 |
Splice Site |
4126+1G>C |
c.39254+1G>C |
p.? |
Pathogenic |
Cruz-Robles (1999) |
 |
| 107810563 |
Intron 42 |
Splice Site |
never used |
c.3925-2A>G |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107810564 |
Intron 42 |
Splice Site |
4127-1G>A |
c.3925-1G>A |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107810564 |
Intron 43 |
Splice Site |
never used |
c.3925-1G>A |
p.? |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107810565 |
Exon 43-44 |
Large Deletion |
never used |
c.3925-?_4069+?del |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107810598 |
Exon 43 |
Nonsense |
never used |
c.3958A>T |
p.Lys1320X |
Pathogenic |
Minucci (2007) |
 |
| 107810632 |
Exon 43 |
Deletion |
4194delT |
c.3992delT |
p.Phe1331fs |
Pathogenic |
Renieri (1996) |
 |
| 107810637 |
Exon 43 |
Missense |
4199G>A |
c.3997G>A |
p.Gly1333Ser |
Pathogenic |
Plant (1999) |
 |
| 107810769 |
Intron 43 |
Splice Site |
never used |
c.3998-2A>T |
p.? |
Pathogenic |
Krol (2008) |
 |
| 107810769 |
Intron 43 |
Splice Site |
4200-2A>G |
c.3998-2A>G |
p.? |
Pathogenic |
Renieri (1996) |
 |
| 107810779 |
Exon 44 |
Nonsense |
never used |
c.4006G>T |
p.Gly1336X |
Pathogenic |
Tan (2010) |
 |
| 107810816 |
Exon 44 |
Deletion |
4245del6, 4241G>A |
c.4043del6,4039G>A |
p.Pro1350_Gly1351del, p.Gly1348Glu |
Pathogenic |
Renieri (1996) |
 |
| 107810842 |
Exon 44 |
Missense |
4271G>A |
c.4069G>A |
p.Gly1357Ser |
Pathogenic |
Martin (1998) |
 |
| 107810843 |
Intron 44 |
Splice Site |
4271+1G>A |
c.4069+1G>A |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107811646 |
Exon 45-51 |
Large Deletion |
never used |
c.4070-?_5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107811647 |
Exon 45 |
Deletion |
4273delT |
c.4071delT |
p.Pro1358fs |
Pathogenic |
Knebelmann (1996) |
 |
| 107811678 |
Exon 45 |
Deletion |
4304_4305delAG |
c.4102_4103delAG |
p.Ser1368fs |
Pathogenic |
Plant (1999) |
 |
| 107811712 |
Exon 45 |
Missense |
4338G>T |
c.4136G>T |
p.Gly1379Val |
Pathogenic |
Renieri (1996) |
 |
| 107811723 |
Exon 45 |
Nonsense |
never used |
c.4147C>T |
p.Gln1383X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107811737 |
Exon 45 |
Insertion |
4363_4364insTCCT |
c.4161_4162insTCCT |
p.Gly1388fs |
Pathogenic |
Renieri (1996) |
 |
| 107811747 |
Exon 45 |
Nonsense |
never used |
c.4171G>T |
p.Gly1391X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107811750 |
Exon 45 |
Deletion |
never used |
c.4175delC |
p.Pro1392fs |
Moderate |
Pont-Kingdon (2009) |
 |
| 107811753 |
Exon 45 |
Nonsense |
4379 C>T |
c.4177 C>T |
p.Gln1393X |
Pathogenic |
Inoue (1999) |
 |
| 107811753 |
Exon 45 |
Deletion |
c.4379delC |
c.4177delC |
p.Gln1393fs |
Moderate |
Bekheirnia (2010) |
 |
| 107811772 |
Exon 45 |
Duplication |
4398_4399insC |
c.4196dup |
p.Gly1400fs |
Pathogenic |
Gross (2002) |
 |
| 107815916 |
Intron 45 |
Splice Site |
4401-1G>A |
c.4199-1G>A |
p.? |
Pathogenic |
Gross (2002) |
 |
| 107815917 |
Exon 46-47 |
Indel |
ins10-15kb; del25kb |
ins10-15kb (intron 46); del25kb |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107815917 |
Exon 46-51 |
Large Deletion |
never used |
c.4199-?_5058+?del |
p.? |
Pathogenic |
King (2006) |
 |
| 107815932 |
Exon 46 |
Duplication |
4416insC |
c.4214dup |
p.Gly1406fs |
Pathogenic |
Ermisch (2000) |
 |
| 107815946 |
Exon 46 |
Missense |
4430C>T |
c.4228C>T |
p.Arg1410Cys |
Pathogenic |
Renieri (1996) |
 |
| 107815953 |
Exon 46 |
Deletion |
never used |
c.4235delG |
p.Gly1412fs |
Pathogenic |
Ma (2011) |
 |
| 107815957 |
Exon 46 |
Silent |
4441C>T |
c.4239C>T |
p.= |
Benign |
Kawai (1996) |
 |
| 107815971 |
Exon 46 |
Indel |
4455_4464del dup4465_4482 |
c.4253_4262del; 4263_4280dup |
p.Gly1420fs |
Pathogenic |
Hertz (2001) |
 |
| 107815979 |
Exon 46 |
Missense |
4463G>T |
c.4261G>T |
p.Gly1421Trp |
Moderate |
Renieri (1996) |
 |
| 107815989 |
Exon 46 |
Missense |
never used |
c.4271G>A |
p.Gly1424Glu |
Pathogenic |
Zhang (2011) |
 |
| 107815993 |
Exon 46 |
Silent |
4477C>T |
c.4275C>T |
p.= |
Benign |
Barker (2001) |
 |
| 107815997 |
Exon 46 |
Missense |
never used |
c.4279G>T |
p.Gly1427Cys |
Pathogenic |
Nagel (2005) |
 |
| 107815998 |
Exon 46 |
Missense |
never used |
c.4280G>C |
p.Gly1427Ala |
Pathogenic |
Ma (2011) |
 |
| 107815998 |
Exon 46 |
Missense |
4482G>T |
c.4280G>T |
p.Gly1427Val |
Moderate |
Plant (1999) |
 |
| 107816016 |
Intron 46 |
Splice Site |
4499+1G>A |
c.4297+1G>A |
p.? |
Pathogenic |
Wang (2005) |
 |
| 107817367 |
Exon 47 |
Splice Site |
4500-1G>C |
c.4298-1G>C |
p.? |
Pathogenic |
Barker (2001) |
 |
| 107817368 |
Exon 47 |
Missense |
never used |
c.4298G>T |
p.Gly1433Val |
Pathogenic |
Ma (2011) |
 |
| 107817368 |
Exon 47-51 |
Large Deletion |
never used |
c.4301-?_5058+?del |
p.? |
Pathogenic |
Nagel (2005) |
 |
| 107817385 |
Exon 47 |
Duplication |
4517_4552dup GGTCCCCCTGGTCC AGATGGATTGCAAGGT CCCCCA |
c.4315_4350dup GGTCCCCCTGGTCC AGATGGATTGCAAGGT CCCCCA |
p.Gly1439_Pro1450dup |
Pathogenic |
Renieri (1996) |
 |
| 107817394 |
Exon 47 |
Missense |
4526G>C |
c.4324G>C |
p.Gly1442Arg |
Pathogenic |
King (2006) |
 |
| 107817395 |
Exon 47 |
Missense |
never used |
c.4325G>C |
p.Gly1442Ala |
Moderate |
Hopker (2009) |
 |
| 107817395 |
Exon 47 |
Missense |
4527G>A |
c.4325G>A |
p.Gly1442Asp |
Pathogenic |
Plant (1999) |
 |
| 107817395 |
Exon 47 |
Deletion |
never used |
c.4325_4351 del |
p. Asp1444_Pro1452del |
Pathogenic |
Tazon-Vega (2007) |
 |
| 107817412 |
Exon 47 |
Missense |
4544G>A |
c.4342G>A |
p.Gly1448Ser |
Pathogenic |
Wang (2005) |
 |
| 107817414 |
Exon 47 |
Insertion |
4546_4547insT |
c.4344_4345insT |
p.Pro1449fs |
Pathogenic |
Renieri (1996) |
 |
| 107817419 |
Exon 47 |
Deletion |
never used |
c.4349delC |
p.Pro1450fs |
Pathogenic |
Nagel (2005) |
 |
| 107817421 |
Exon 47 |
Missense |
4553G>A |
c.4351G>A |
p.Gly1451Ser |
Pathogenic |
Lemmink (1997) |
 |
| 107817506 |
Exon 47 |
Deletion |
4638_4639delGA |
c.4436_4437delGA |
p.Gly1479fs |
Pathogenic |
Hertz (2001) |
 |
| 107817507 |
Exon 47 |
Deletion |
4639delA |
c.4437delA |
p.Gly1479fs |
Pathogenic |
Plant (1999) |
 |
| 107817509 |
Exon 47 |
Missense |
never used |
c.4439C>G |
p.Thr1480Arg |
Moderate |
Ma (2011) |
 |
| 107817527 |
Exon 47 |
Missense |
4659G>C |
c.4457G>C |
p.Gly1486Ala |
Moderate |
Plant (1999) |
 |
| 107817533 |
Exon 47 |
Missense |
4665C>T |
c.4463C>T |
p.Ser1488Phe |
Pathogenic |
Knebelmann (1996) |
 |
| 107817561 |
Exon 47 |
Deletion |
4693delAG |
c.4491_4492del AG |
p.Arg1497Serfs |
Pathogenic |
Inoue (1999) |
 |
| 107817563 |
Exon 47 |
Missense |
4686C>A |
c.4493C>A |
p.Ala1498Asp |
Moderate |
Lemmink (1997) |
 |
| 107817571 |
Exon 47 |
Nonsense |
never used |
c.4501C>T |
p.Gln1501X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107817580 |
Intron 47 |
Indel |
ins10-15kb (intron 47); del ~40 kb 3' to COL4A5 |
ins10-15kb (intron 47); del ~40 kb 3' to COL4A5 |
p.? |
Pathogenic |
Plant (1999) |
 |
| 107817581 |
Intron 47 |
Splice Site |
4712+1G>C |
c.4510+1G>C |
p.? |
Pathogenic |
Kawai (1996) |
 |
| 107822636 |
Exon 48 |
Deletion |
c.4715delA |
c.4513delA |
p.Thr1505fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107822637 |
Exon 48 |
Indel |
never used |
c.4514_4529 indelTTTCATCT |
p.Thr1505fs |
Pathogenic |
Nagel (2005) |
 |
| 107822655 |
Exon 48 |
Missense |
never used |
c.4532G>A |
p. Arg1511His |
Uncertain |
Cheong (2000) |
 |
| 107822672 |
Exon 48 |
Missense |
4751C>A |
c.4549C>A |
p.Pro1517Thr |
Pathogenic |
Renieri (1996) |
 |
| 107822686 |
Exon 48 |
Nonsense |
4765C>A |
c.4563C>A |
p.Cys1521X |
Pathogenic |
Hertz (2001) |
 |
| 107822736 |
Exon 48 |
Missense |
4815G>C |
c.4613G>C |
p.Trp1538Ser |
Moderate |
Lemmink (1997) |
 |
| 107822737 |
Exon 48 |
Nonsense |
4816G>A |
c.4614G>A |
p.Trp1538X |
Pathogenic |
Knebelmann (1996) |
 |
| 107822798 |
Exon 48 |
Missense |
4877C>G |
c.4675C>G |
p.Pro1559Ala |
Benign |
Plant (1999) |
 |
| 107822808 |
Exon 48 |
Deletion |
c.4887_4890del4 |
c.4685del4 |
p.Ser1562fs |
Pathogenic |
Bekheirnia (2010) |
 |
| 107822810 |
Exon 48 |
Nonsense |
4889C>T |
c.4687C>T |
p.Arg1563X |
Pathogenic |
Knebelmann (1996) |
 |
| 107822811 |
Exon 48 |
Missense |
4890G>A |
c.4688G>A |
p.Arg1563Gln |
Moderate |
Gross (2002) |
 |
| 107824663 |
Intron 48 |
Indel |
c.4891-30del22insCA |
c.4689-30_4689-9 delinsCA |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107824690 |
Exon 49 |
Splice Site |
4891-3del32 |
c.4689-3del32 |
p.? |
Pathogenic |
Kawai (1996) |
 |
| 107824693 |
Exon 49-51 |
Large Deletion |
never used |
c.4689-?_5058+?del |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107824694 |
Exon 49 |
Missense |
never used |
c.4690T>C |
p.Cys1564Arg |
Moderate |
Pont-Kingdon (2009) |
 |
| 107824695 |
Exon 49 |
Missense |
4893G>C |
c.4691G>C |
p.Cys1564Ser |
Moderate |
Zhou (1991) |
 |
| 107824703 |
Exon 49 |
Missense |
4901T>C |
c.4699T>C |
p.Cys1567Arg |
Pathogenic |
Knebelmann (1996) |
 |
| 107824706 |
Exon 49 |
Missense |
never used |
c.4702G>A |
p.Glu1568Gln |
Pathogenic |
Tan (2010) |
 |
| 107824754 |
Exon 49 |
Deletion |
4952_4958del7 |
c.4750_4756del7 |
p.Pro1584fs |
Moderate |
Plant (1999) |
 |
| 107824754 |
Exon 49 |
Missense |
never used |
c.4751C>T |
p.Pro1584Leu |
Moderate |
Pont-Kingdon (2009) |
 |
| 107824760 |
Exon 49 |
Missense |
4958T>C |
c.4756T>C |
p.Cys1586Arg |
Pathogenic |
Hertz (2001) |
 |
| 107824761 |
Exon 49 |
Missense |
4959G>T |
c.4757G>T |
p.Cys1586Phe |
Pathogenic |
Wang (2005) |
 |
| 107824770 |
Exon 49 |
Missense |
4968G>T |
c.4766G>T |
p.Gly1589Val |
Pathogenic |
King (2006) |
 |
| 107824772 |
Exon 49 |
Missense |
4970T>G |
c.4768T>G |
p.Trp1590Gly |
Pathogenic |
King (2006) |
 |
| 107824784 |
Exon 49 |
Deletion |
never used |
c.4780_4781delTG |
p.Trp1594fs |
Pathogenic |
Ma (2011) |
 |
| 107824791 |
Exon 49 |
Missense |
4989G>A |
c.4787G>A |
p.Gly1596Asp |
Pathogenic |
Renieri (1996) |
 |
| 107824794 |
Exon 49 |
Missense |
4992A>G |
c.4790A>G |
p.Tyr1597Cys |
Moderate |
Gross (2002) |
 |
| 107824795 |
Exon 49 |
Nonsense |
4993T>A |
c.4791T>A |
p.Tyr1597X |
Pathogenic |
Martin (1998) |
 |
| 107824807 |
Exon 49 |
Missense |
5005G>A |
c.4803G>A |
p.Met1601Ile |
Pathogenic |
Plant (1999) |
 |
| 107824808 |
Intron 49 |
Splice Site |
5005+1ins10 |
c.4803+1ins10 |
p.? |
Pathogenic |
Lemmink (1997) |
 |
| 107824808 |
Intron 49 |
Splice Site |
5005+1G>A |
c.4803+1G>A |
p.? |
Moderate |
Knebelmann (1996) |
 |
| 107824929 |
Intron 49 |
Splice Site |
5005+121T>C |
c.4803+121T>C |
p.? |
Pathogenic |
Shimizu (2006) |
 |
| 107825002 |
Intron 49 |
Splice Site |
5006-151_150insT |
c.4804-151_150insT |
p.? |
Pathogenic |
Shimizu (2006) |
 |
| 107825181 |
Exon 50 |
Deletion |
5034delG |
c.4832delG |
p.Gly1611fs |
Pathogenic |
Renieri (1996) |
 |
| 107825243 |
Exon 50 |
Missense |
never used |
c.4894T>G |
p.Cys1632Gly |
Pathogenic |
Bekheirnia (2010) |
 |
| 107825262 |
Exon 50 |
Missense |
5115G>A |
c.4913G>A |
p.Cys1638Tyr |
Moderate |
Wilson (2007) |
 |
| 107825291 |
Exon 50 |
Duplication |
never used |
c.4942dup |
p.Trp1648fs |
Pathogenic |
Ma (2011) |
 |
| 107825295 |
Exon 50 |
Missense |
5148T>G |
c.4946T>G |
p.Leu1649Arg |
Moderate |
Barker (1996) |
 |
| 107825317 |
Exon 50 |
Deletion |
5170 delC |
c.4968delC |
p.Asp1656fs |
Pathogenic |
Inoue (1999) |
 |
| 107825325 |
Exon 50 |
Missense |
5178G>A |
c.4976G>A |
p.Ser1659Asn |
Pathogenic |
Knebelmann (1996) |
 |
| 107826181 |
Intron 50 |
Splice Site |
c.5179-2A>G |
c.4977-2A>G |
p.? |
Pathogenic |
Bekheirnia (2010) |
 |
| 107826200 |
Exon 51 |
Deletion |
5196_5203del8 |
c.4994_5001del8 |
p.Thr1665fs |
Pathogenic |
Plant (1999) |
 |
| 107826226 |
Exon 51 |
Nonsense |
never used |
c.5020C>T |
p.Arg1674X |
Pathogenic |
Bekheirnia (2010) |
 |
| 107826235 |
Exon 51 |
Nonsense |
5231C>T |
c.5029C>T |
p.Arg1677X |
Pathogenic |
Martin (1998) |
 |
| 107826236 |
Exon 51 |
Missense |
5232G>A |
c.5030G>A |
p.Arg1677Gln |
Moderate |
Barker (1997) |
 |
| 107826236 |
Exon 51 |
Missense |
5232G>C |
c.5030G>C |
p.Arg1677Pro |
Moderate |
Barker (2001) |
 |
| 107826236 |
Exon 51 |
Missense |
never used |
c.5030G>T |
p.Arg1677Leu |
Pathogenic |
Ma (2011) |
 |
| 107826238 |
Exon 51 |
Missense |
5234T>C |
c.5032T>C |
p.Cys1678Arg |
Pathogenic |
Gross (2002) |
 |
| 107826240 |
Exon 51 |
Deletion |
5236delT |
c.5034delT |
p.Cys1678fs |
Pathogenic |
Martin (2000) |
 |
| 107826240 |
Exon 51 |
Missense |
5236T>G |
c.5034T>G |
p.Cys1678Trp |
Pathogenic |
Inoue (1999) |
 |
| 107826248 |
Exon 51 |
Missense |
5244G>T |
c.5042G>T |
p.Cys1681Phe |
Pathogenic |
Wang (2005) |
 |
| 107826312 |
3'UTR |
Insertion |
c.5309_5310insA |
c.5058+48insAT (*48_49insAT) |
p.? |
Uncertain |
Bekheirnia (2010) |
 |