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| Location ▾ | Mutation Type | Original cDNA Report | Nucleotide Change | Protein Change | Classification | References | Comments |
|---|---|---|---|---|---|---|---|
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Uliana (2011) |  Alport syndrome. Deletion of about 195kb includes deletion of exons 1-3 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH |
| Exon 01-36 | Large Deletion | never used | c.1-?_3246+?del | p.? | Pathogenic | Uliana (2011) | Alport syndrome. Deletion of about 315kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Uliana (2011) | Alport syndrome. Deletion includes deletion of exons 1-3 Col4A6 associated to Leimomyomatosis. Deletion characterised by MLPA and Array-CGH. Mild nephropathy in male proband |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del15-19kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome.De novo mutation Del420kb. includes deletion of exon1-4 Col4A6 associated to Leimomyomatosis |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del exon 1. |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del190kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Del1<10kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01 | Large Deletion | never used | c.1-?_81+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del120kb includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01 | Missense | 203A>G | c.1A>G | p.? | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 01-04 | Large Deletion | never used | c.1-?_276+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Del75kb. Includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01-18 | Large Deletion | never used | c.1-?_1032+?del | p.? | Pathogenic | Hertz (2008) | Alport Syndrome. includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01-18 | Large Deletion | never used | c.1-?_1032+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome.De novo mutation Del210kb. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01-30 | Large Deletion | never used | c.1-?_2509+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Del330kb. includes deletion of exon1-3 Col4A6 associated to Leimomyomatosis |
| Exon 01-30 | Large Deletion | never used | c.1-?_2509+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome. Exact size of deletion unknown. |
| Exon 01-32 | Large Deletion | never used | c.1-?_2767+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Del210kb. De novo mutation. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01-32 | Large Deletion | never used | c.1-?_2767+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Del290kb. includes deletion of exon1-2 Col4A6 associated to Leimomyomatosis |
| Exon 01-51 | Large Deletion | never used | c.1-?_5058+?del | Deletion of entire gene |
Pathogenic | Barker (2001) | Alport Syndrome. Includes deletion of exons 1-2 Col4A6 associated to Leimomyomatosis. |
| Exon 01-51 | Large Deletion | never used | c.1-?_5058+?del | Deletion of entire gene |
Pathogenic | Nozu (2008) | Alport Syndrome. Deletion of entire gene. |
| Exon 01-51 | Large Deletion | never used | c.1-?_5058+?del | Deletion of entire gene |
Pathogenic | Hoischen (2009) | Alport syndrome. 3.3 MB deletion including COL4A5 gene. Found by array CGH in patient with unclear syndromic nephropathy. Accompanied by mental retardation. |
| Exon 01 | Deletion | 204_205delTG | c.2_3del | p.Met1fs | Pathogenic | King (2006) | Alport syndrome. Frameshift and initiator codon disrupted |
| Exon 01 | Nonsense | 215G>T | c.13G>T | p.Gly5X | Pathogenic | Cruz-Robles (1999) | Alport Syndrome Absence of alpha 5 chain |
| Exon 01 | Insertion | never used | c.38_41dup | p.Leu14fs | Pathogenic | Hertz (2008) | Alport syndrome (detectable by MLPA) |
| Exon 01 | Deletion | never used | c.49_50del | p.Leu17fs | Pathogenic | Ellison (2009) | Reported in a female with asymptomatic hematuria and proteinuria. |
| Exon 01 | Deletion | c.267_279del13 | c.65_77del | p.Gln22fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 01 | Splice Site | c.283+1G>C | c.81+1G>C | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 02-36 | Large Duplication | never used | c.82-27.699_3246 +16.073dup |
p.Ala28_Lys1082dup | Pathogenic | Arrondel (2004) | Alport syndrome. Around 130kb duplication from intron 1 to intron 36. In frame. Interrupt GXY collagenous domain and adds 1054 amino acid. Mutation found in French Polynesia |
| Exon 02-08 | Large Deletion | never used | c.82-?_465+?del | p.? | Pathogenic | Martin (1998) | Exons 2-8could not be amplified |
| Exon 02-19 | Large Deletion | never used | c.82-?_1165+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Deletion exon 2 to 19. truncated protein due to frameshift |
| Exon 02-36 | Large Deletion | never used | c.82-?_3246+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Deletion exon 2 to 36. truncated protein due to frameshift |
| Exon 02-37 | Large Deletion | never used | c.82-?_3373+?del | p.? | Pathogenic | King(2006) | Alport syndrome. Deletion exon 2 to 37. |
| Exon 02-51 | Large Deletion | never used | c.82-?_5058+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome Del ~300 kb |
| Exon 02-51 | Large Deletion | never used | c.82-?_5058+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome Del >500 kb |
| Exon 02 | Large Deletion | c.284-?_343+?del | c.82-?_141+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exon2. Reported as c.284-?_344+?del |
| Exon 02 | Nonsense | never used | c.87C>A | p.Cys29X | Pathogenic | Savige (2008) | Alport syndrome |
| Exon 02 | Nonsense | 292T>G | c.90T>G | p.Tyr30X | Pathogenic | Martin (2000) | Alport syndrome truncated protein |
| Exon 02 | Deletion | never used | c.119del | p.Cys40fs | Pathogenic | Tazon-Vega (2007) | Alport syndrome |
| Intron 02 | Splice Site | 344-1G>A | c.142-1G>A | p.? | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 03-37 | Large Deletion | never used | c.142-?_3373+?del | p.? | Pathogenic | Barker (2001) | Deletion exon 3 to 37 |
| Exon 03-31 | Large Deletion | c.344-?_2879+?del | c.142-?_2677+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exons 3-31 |
| Exon 03 | Missense | never used | c.142G>A | p.Gly48Arg | Pathogenic | Tan (2010) | Alport syndrome. ESRD after 30 |
| Exon 03 | Insertion | c.353insA355insT | c.151_152insA +156dup |
p.Gly51fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 03 | Large Deletion | c.344-?_433+?del | c.142-?_231+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exon3 Reported as c.343-?_344+?del |
| Exon 03 | Missense | 363G>A | c.161G>A | p.Gly54Asp | Pathogenic | Turco (1995) | Affected individual Later onset (microhematruria at 22). Originally reported as 362G>A Age at ESRD 40. Reported also in Renieri 1995 |
| Intron 03 | Splice Site | 433+1G>A | c.231+1G>A | p.? | Pathogenic | Barker (2001) | Alport Syndrome |
| Intron 03 | Splice Site | 434-1G>T | c.232-1G>T | p.? | Pathogenic | Barker (2001) | Alport Syndrome |
| Intron 03 | Splice Site | c.434-1G>T | c.232-1G>A | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 04/05-26 | Large Deletion | never used | c.232-?_2041+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein. del4/5-26 |
| Exon 04-13 | Large Deletion | never used | c.232-?_780+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein. In frame |
| Exon 04-47 | Large Deletion | never used | c.232-?_4510+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 04 | Deletion | 452delG | c.252del | p.Pro85fs | Pathogenic | Plant (1999) | Alport syndrome. |
| Intron 04 | Splice Site | never used | c.276+5G>A | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. |
| Intron 04 | Splice Site | 479-1G>T | c.277-1G>T | p.? | Pathogenic | Plant (1999) | Alport syndrome. Late onset Age at ESRD: 31 |
| Exon 05-10 | Large Deletion | never used | c.277-?_609+?del | p.? | Pathogenic | Barker (1990) | Alport Syndrome |
| Exon 05 | Missense | never used | c.286G>A | p.Gly96Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 05 | Deletion | 495delC | c.293del | p.Pro98fs | Pathogenic | Barker (2001) | Alport syndrome. Found in 2 famillies (Bekheirnia (2010) |
| Intron 05 | Splice Site | 524-1G>A | c.322-1G>A | p.? | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 06 | Deletion | never used | c.351_359del | p.Pro118_Gly120del | Pathogenic | Savige (2008) | Alport Syndrome. Found late onset in Tang 2010 |
| Exon 06 | Deletion | never used | c.368del | p.Gly123fs | Pathogenic | Nagel (2005) | Alport Syndrome. Truncated protein. Originally documented as c.367delG |
| Intron 06 | Splice site | c.384-+ 1873 G>A | c.385-719G>A | p.? | Pathogenic | King (2002) | Alport syndrome. This mutation creates a novel exon in intron 06 (cDNA evidence and cosegregation in family). Originally reported as c.384+1873G>A |
| Intron 06 | Splice Site | 587-1G>C | c.385-1G>C | p.? | Pathogenic | Hertz (2001) | Alport syndrome. Skips exon 7 |
| Exon 07 | Missense | never used | c.385G>A | p.Gly129Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome. Late onset ESRD at 38 |
| Exon 07 | Missense | 588G>A | c.386G>A | p.Gly129Glu | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 07 | Missense | 588G>T | c.386G>T | p.Gly129Val | Pathogenic | Lemmink (1997) | Alport syndrome. Possible splice site muation |
| Exon 07 | Nonsense | 590G>T | c.388G>T | p.Glu130X | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 07 | Missense | 632G>A | c.430G>A | p.Gly144Ser | Pathogenic | Plant (1999) | Alport Syndrome. Originally reported as p.G114S c.632 G>A |
| Exon 07 | Missense | never used | c.430G>C | p.Gly144Arg | Pathogenic | Ma (2011) | Alport Syndrome-Late onset-ESRD at 31. |
| Exon 07 | Missense | never used | c.431G>A | p.Gly144Asp | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 07 | Splice Site | never used | c.438+2T>C | p.? | Pathogenic | Ma (2011) | Alport syndrome- predicted to affect splicing using different software |
| Intron 07 | Splice Site | c.640+5G>A | c.438+5G>A | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 08 | Deletion | 642del G | c.440del | p.Gly147fs | Pathogenic | Inoue (1999) | Alport Syndrome. Truncated protein |
| Exon 08 | Insertion | never used | c.446dup | p.Gly150fs | Pathogenic | Nagel (2005) | Alport Syndrome. Truncated protein- originally reported as c.441_442insC |
| Exon 08 | Deletion | 648delC | c.446del | p.Pro149fs | Pathogenic | Martin (1998) | Alport syndrome. Truncated protein |
| Intron 08 | Splice Site | never used | c.466-17T>G | p.? | Uncertain | Nagel (2005) | In patient with Alport Syndrome.No RNA (cDNA) data. Mutations affecting the less conserved parts of the acceptor splice signal. |
| Intron 08 | Splice Site | 668-12G>A | c.466-12G>A | p.? | Pathogenic | Wang (2005) | Alport syndrome. Two type of aberrant mRNA: skipping of the upstream exon 9 and preserving exon 9 but inserting 10 bp of intron 8. |
| Intron 08 | Splice Site | 668-2A>G | c.466-2A>G | p.? | Pathogenic | Hertz (2001) | Alport syndrome. Skips exon 9 |
| Exon 09 | Deletion | never used | c.476del | p.Gly159fs | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 09 | Missense | 722G>C | c.520G>C | p.Gly174Arg | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 09 | Missense | 731 G>T | c.529G>T | p.Gly177Cys | Pathogenic | Blasi (2000) | Alport syndrome accompanied with dot and fleck retinopathy |
| Exon 09 | Missense | 731G>C | c.529G>C | p.Gly177Arg | Pathogenic | Renieri (1996) | Alport syndrome. Late onset Age at ESRD 34 (M)-55 (F). Reported by others |
| Exon 09 | Deletion | 735delC | c.533del | p.Pro178fs | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation. |
| Exon 09 | Missense | never used | c.538G>A | p.Gly180Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 09 | Splice Site | 746_748+4 delCAAgtaa |
c.544_546+4 delCAAgtaa |
p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 09 | Splice Site | 748+1G>AIVS9+1G>A | c.546+1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome; late onset mean age ESRD: 36 years. Originally Documented as 750+1G>A |
| Intron 09 | Splice Site | 748+3insT | c.546+3_546+4insT | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome; late onset mean age ESRD: 35 years Originally Documented as 750+3insT |
| Intron 09 | Splice Site | c.749-2A>G | c.547-2A>G | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 09 | Splice Site | 749-1G>A | c.547-1G>A | p.? | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 10 | Missense | never used | c.548G>T | p.Gly183Val | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 10 | Insertion | 752_753insC | c.550dup | p.Leu184fs | Pathogenic | Martin (1998) | Alport syndrome. Truncated protein was reported as c.752insC in Martin (1998) and c.750insC in Hertz (2001) |
| Exon 10 | Insertion | never used | c.573_574dup | p.Gly192fs | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 10 | Missense | 776G>A | c.574G>A | p.Gly192Arg | Pathogenic | Barker (2001) | Alport syndrome |
| Exon 10 | Missense | 786G>A | c.584G>A | p.Gly195Asp | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 10 | Missense | 795G>A | c.593G>A | p.Gly198Glu | Pathogenic | Slajpah (2007) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 10 | Missense | 804G>T | c.602G>T | p.Gly201Val | Moderate | Hertz (2001) | Alport syndrome. Late onset Age at ESRD: in male 34 years |
| Intron 10 | Splice Site | 811+1G>A | c.609+1G>A | p.? | Pathogenic | Hertz (2001) | Alport Syndrome |
| Intron 10 | Splice Site | 811+21T>C | c.609+21T>C | p.? | Benign | Barker (2001) | In benign haplotype with c.2768-11A>G - Does not always segregate with disease |
| Intron 10 | Splice Site | never used | c.610-2A>G | p.? | Pathogenic | Tazon-Vega (2007) | Alport syndrome. 3' ss inactivated cryptic 3'ss used: deletion nucleotides 610-628 in exon 11; frameshift premature termination |
| Exon 11 | Deletion | 812_830del19 | c.610_628del | p.Gly204fs | Pathogenic | Inoue (1999) | Alport syndrome. Truncated protein |
| Exon 11 | Missense | 813G>A | c.611G>A | p.Gly204Asp | Pathogenic | Gross (2002) | Alport syndrome |
| Exon 11 | Missense | 813G>T | c.611G>T | p.Gly204Val | Pathogenic | Knebelmann (1996) | Alport syndrome |
| Exon 11 | Deletion | c.813_814delGC | c.611_612del | p.Gly204fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 11 | Deletion | 836delC | c.634del | p.Pro212fs | Pathogenic | Renieri (1996) | Alport syndrome; truncated protein Originally reported as 211fs |
| Exon 11 | Missense | 840G>A | c.638G>A | p.Gly213Glu | Pathogenic | King (2006) | Alport syndrome |
| Intron 11 | Deletion | never used | c.646-12_646-11del | p.Gly216_Lys229 | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Weakend polypyrimidine tract; in frame deletion of exon 12 |
| Intron 11 | Splice Site | 848-3C>A | c.646-3C>A | p.? | Pathogenic | Plant (1999) | Skips Exon 12 (in frame);documented as 849-3C>A or c.647-3C>A |
| Exon 12 | Missense | 848G>A | c.646G>A | p.Gly216Arg | Pathogenic | Martin (2000) | Alport syndrome |
| Exon 12 | Missense | never used | c.647G>T | p.Gly216Val | Pathogenic | Tazon-Vega (2007) | Alport syndrome |
| Exon 12 | Insertion | never used | c.647_648dup | p.Asn217fs | Pathogenic | Nagel (2005) | Alport Syndrome. Truncated protein |
| Exon 12 | Insertion | never used | c.648dup | p.Asn217fs | Pathogenic | Nagel (2005) | Alport Syndrome. Truncated protein. Originally documented as c.646_647insG |
| Exon 12 | Missense | 857G>A | c.655G>A | p.Gly219Ser | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 12 | Missense | never used | c.665T>G | p.Phe222Cys | Pathogenic | Becknell (2011) | Associated to Glomerulopathy and ESRD (absence of clinical findings associated with Alport Syndrome). Mutation in non collagen interruption. Observed with signs of chronic thrombotic microangiopathy (Wuttke et al Clin Kidney J. 2015) |
| Exon 12 | Nonsense | never used | c.682G>T | p.Glu228X | Pathogenic | Demosthenous (2012) | Alport syndrome. Truncated protein |
| Intron 12 | Splice Site | 889+1G>A | c.687+1G>A | p.? | Pathogenic | Lemmink (1997) | affected individual. Classified as moderate in Pont-Kingdon et al 2009-ESRD at 33 |
| Intron 12 | Splice Site | 890-3C>G | c.688-3C>G | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 13 | Missense | 890G>C | c.688G>C | p.Gly230Arg | Pathogenic | Knebelmann (1996) | Alport syndrome |
| Exon 13 | Deletion | 891delG | c.689del | p.Gly230fs | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 13 | Missense | never used | c.689G>A | p.Gly230Asp | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 13 | Missense | 918G>A | c.716G>A | p.Gly239Glu | Pathogenic | Knebelmann (1996) | Alport syndrome |
| Exon 13 | Deletion | 963_964delAG | c.761_762del | p.Glu254fs | Pathogenic | Kawai (1996) | Alport Syndrome Originally reported as 962/delAG truncated protein |
| Intron 13 | Splice Site | never used | c.780+2T>G | p.? | Pathogenic | Tazon-Vega (2007) | Alport syndrome. 5'ss inactivated (exon 13 skipped In frame) |
| Intron 13 | Splice Site | 983-1del7 | c.781-1_786del | p.? | Pathogenic | Kawai (1996) | Alport Syndrome late onset age at ESRD |
| Exon 14-51 | Large Deletion | never used | c.781-?_5058+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein |
| Exon 14-21 | Large Deletion | never used | c.781-?_1423+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exons 14-21 |
| Exon 14 | Deletion | never used | c.788del | p.Pro263fs | Pathogenic | Ma (2011) | Alport Syndrome |
| Exon 14 | Missense | 992G>C | c.790G>C | p.Gly264Arg | Pathogenic | Knebelmann (1996) | Alport syndrome late onset age at ESRD (48) |
| Exon 14 | Missense | never used | c.791G>A | p.Gly264Asp | Pathogenic | Nagel (2005) | Alport syndrome |
| Exon 14 | Nonsense | 998C>T | c.796C>T | p.Arg266X | Pathogenic | Wang (2005) | Alport syndrome; truncated protein. Reported in other studies |
| Exon 14 | Deletion | 1014delC | c.812del | p.Pro271fs | Pathogenic | Gross (2002) | Alport Syndrome frameshift |
| Intron 14 | Splice Site | 1036+1G>A | c.834+1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome; late onset mean age ESRD: 31.5 years |
| Intron 14 | Splice Site | 1036+5G>T | c.834+5G>T | p.? | Pathogenic | Wang (2005) | Alport syndrome del Exon 14 |
| Exon 15 | Nonsense | 1061G>T | c.859G>T | p.Glu287X | Pathogenic | Lemmink (1997) | Allport syndrome |
| Exon 15 | Nonsense | 1068G>T | c.866G>T | p.Glu289Val | Pathogenic | Lemmink (1997) | Allport syndrome |
| Exon 15 | Deletion | c.1068delC | c.866del | p.Gly289fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 15 | Deletion | c.1075delA | c.873del | p.Gly292fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 15 | Missense | 1076G>C | c.874G>C | p.Gly292Arg | Pathogenic | Barker (2001) | Alport syndrome. Late onset age at ESRD (33 years old- Bekheirnia 2010) |
| Exon 15 | Missense | 1077G>T | c.875G>T | p.Gly292Val | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 15 | Deletion | c.1077delG | c.875del | p.Gly292fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 15 | Missense | 1086G>A | c.884G>A | p.Gly295Asp | Pathogenic | Barker (2001) | Alport syndrome. Reported as late onset (ESRD at 49.5 years) in Pont-Kingdon et al 2009. |
| Intron 15 | Splice Site | 1093+1G>A | c.891+1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Intron 15 | Splice Site | 1094-2A>G | c.892-2A>G | p.? | Pathogenic | Lemmink (1997) | Alport Syndrome. Gross (2002) classified as Adult type. |
| Intron 15 | Splice Site | 1094-1G>C | c.892-1G>C | p.? | Pathogenic | Lemmink (1997) | Alport Syndrome |
| Exon 16 | Missense | 1094G>A | c.892G>A | p.Gly298Ser | Pathogenic | Knebelmann (1996) | Alport syndrome |
| Exon 16 | Nonsense | 1115G>T | c.913G>T | p.Glu305X | Pathogenic | Plant (1999) | Alport Syndrome. Protein truncation |
| Exon 16 | Missense | 1122G>A | c.920G>A | p.Gly307Asp | Pathogenic | Gross (2002) | Alport syndrome. Late onset (ESRD at 43 years) |
| Exon 16 | Missense | 1130G>A | c.928G>A | p.Gly310Arg | Pathogenic | Slajpah (2007) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Intron 16 | Splice Site | never used | c.937-1G>A | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutation in donor splice signal. |
| Exon 17 | Large Deletion | never used | c.937-?_990+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Protein truncated by 18 amino acids |
| Exon 17 | Missense | 1139G>A | c.937G>A | p.Gly313Ser | Pathogenic | King (2006) | Alport syndrome |
| Exon 17 | Insertion | 1147_1148insT | c.945dup | p.Gly316fs | Pathogenic | Martin (1998) | Alport syndrome. Truncated protein |
| Exon 17 | Missense | never used | c.955G>C | p.Gly319Arg | Pathogenic | Cheong (2000) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 17 | Missense | 1158G>A | c.956G>A | p.Gly319Asp | Pathogenic | Slajpah (2007) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 17 | Nonsense | never used | c.960C>A | p.Tyr320X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 17 | Silent | 1172C>T | c.970C>T | p.= | Benign | Plant (1999) | Silent polymorphism |
| Exon 17 | Missense | 1175G>A | c.973G>A | p.Gly325Arg | Pathogenic | Barker (2001) | Alport syndrome. Found in conjunction with p.I703V mutation; Reported in several stuties Renieri reports as a late onset Age at ESRG >36) |
| Exon 17 | Nonsense | 1175G>T | c.973G>T | p.Gly325X | Pathogenic | Kawai (1996) | Alport Syndrome truncated protein |
| Exon 17 | Missense | 1176G>A | c.974G>A | p.Gly325Glu | Pathogenic | Renieri (1996) | Alport syndrome. De novo mutation. Interrupts continuous Gly-X-Y |
| Exon 18 | Missense | 1194G>T | c.992G>T | p.Gly331Val | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 18 | Missense | never used | c.1001G>T | p.Gly334Val | Pathogenic | Hertz (2008) | Alport syndrome |
| Intron 18 | Splice Site | 1234+3delAAGT | c.1032+3_1032+6 delAAGT |
p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome. Affects 5' splicing site of intron 18 |
| Intron 18 | Splice Site | 1234+5G>T | c.1032+5G>T | p.? | Pathogenic | Slajpah (2007) | Alport syndrome. Late onset age at ESRD=36 yeas. |
| Intron 18 | Splice Site | 1235-15delT | c.1033-15delT | p.? | Benign | Barker (2001) | Found in an affected male with the G295D mutation. Never found in other cases- probably rare polymorphism T10>T9. |
| Exon 19-22 | Large Deletion | never used | c.1033-?_1516+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein |
| Exon 19 | Insertion | c.1262_1263insA | c.1060dup | p.Thr354fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 19 | Insertion | 1264_1265insT | c.1062dup | p.Ile355fs | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 19 | Deletion | 1276delA | c.1074del | p.Gly359fs | Pathogenic | Kawai (1996) | Alport syndrome Originally reported as 1274delA truncated protein |
| Exon 19 | Missense | never used | c.1084G>A | p.Gly362Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 19 | Missense | 1296G>A | c.1094G>A | p.Gly365Glu | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 19 | Silent | 1297G>C | c.1095G>C | p.= | Benign | Barker (2001) | In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease |
| Exon 19 | Missense | 1314G>A | c.1112G>A | p.Gly371Glu | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 19 | Nonsense | 1319C>T | c.1117C>T | p.Arg373X | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein. Observed in several families (Bekheirnia (2010)) |
| Exon 19 | Missense | 1323G>C | c.1121G>C | p.Gly374Ala | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 19 | Nonsense | never used | c.1135C>T | p.Gln379X | Pathogenic | Tug (2011) | Alport syndrome. Described in a large Turkish family |
| Exon 19 | Missense | never used | c.1139G>A | p.Gly380Asp | Pathogenic | Tazon-Vega (2007) | Alport syndrome. |
| Exon 19 | Missense | 1350G>A | c.1148G>A | p.Gly383Asp | Pathogenic | Kawai (1996) | Alport Syndrome |
| Intron 19 | Splice Site | 1367+1G>A | c.1165+1G>A | p.? | Pathogenic | Renieri (1996) | Alport syndrome. 5' splice signal |
| Intron 19 | Splice Site | 1367+2T>G | c.1165+2T>G | p.? | Pathogenic | Renieri (1996) | Alport syndrome. 5' splice signal |
| Exon 20-21 | Large Deletion | never used | c.1166-?_1423+?del | p.? | Pathogenic | Lemmink (1997) | truncated protein- in frame-affected individual |
| Exon 20-22 | Large Deletion | never used | c.1166-?_1516+?del | p.? | Pathogenic | Hertz (2008) | Alport syndrome. truncated protein |
| Exon 20-26 | Large Deletion | never used | c.1166-?_2041+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein |
| Exon 20 | Deletion | c.1383delG | c.1181del | p.Glu394fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 20 | Silent | 1393C>G | c.1191C>G | p.= | Benign | Wang (2005) | Found in conjunction with p.G403V Mutation |
| Exon 20 | Missense | 1401G>A | c.1199G>A | p.Gly400Glu | Pathogenic | Plant (1999) | Alport syndrome. Late onset Age at ESRD: 35. De novo mutation |
| Exon 20 | Missense | 1410G>T | c.1208G>T | p.Gly403Val | Pathogenic | Wang (2005) | Alport syndrome. Found in conjunction with p.G397G silent polymorphism Mutation; Interrupts Gly-X-Y |
| Exon 20 | Insertion | never used | c.1213dup | p.Arg405fs | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 20 | Insertion | 1416_1417insA | c.1214_1215insA | p.Gln407fs | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 20 | Insertion | 1419_1420 insGGGG |
c.1214_1217dup | p.Gln407fs | Pathogenic | Renieri (1996) | Alport syndrome; truncated protein. |
| Exon 20 | Missense | 1419G>T | c.1217G>T | p.Gly406Val | Pathogenic | Renieri (1996) | Alport syndrome. reported in several studies -late onset-ESRD at 31.5 |
| Exon 20 | Nonsense | 1421C>T | c.1219C>T | p.Gln407X | Pathogenic | Hertz (2001) | Alport Syndrome- originaly reported aa 1422C>T |
| Exon 20 | Nonsense | never used | c.1222A>T | p.Lys408X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 20 | Missense | 1428G>A | c.1226G>A | p.Gly409Asp | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 20 | Missense | 1437G>T | c.1235G>T | p.Gly412Val | Pathogenic | Knebelmann (1996) | Alport syndrome. Late onse age at ESRD (33). De novo mutation |
| Exon 20 | Missense | 1445G>A | c.1243G>A | p.Gly415Arg | Pathogenic | Martin (2000) | Alport syndrome |
| Exon 20 | Deletion | never used | c.1254del | p.Pro419fs | Pathogenic | Nagel (2005) | Alport syndrome; Originally documented as c.1253delT in exon 19 |
| Exon 20 | Missense | 1461G>A | c.1259G>A | p.Gly420Glu | Pathogenic | Knebelmann (1996) | Alport syndrome |
| Exon 20 | Missense | 1461G>T | c.1259G>T | p.Gly420Val | Pathogenic | Martin (1998) | Alport Syndrome. Reported in unrelated patients. |
| Exon 20 | Deletion | 1467delC | c.1265del | p.Pro422fs | Pathogenic | Knebelmann (1996) | Alport syndrome. truncated protein |
| Exon 20 | Missense | 1470G>A | c.1268G>A | p.Gly423Glu | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 20 | Missense | never used | c.1276G>A | p.Gly426Arg | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 20 | Insertion | 1482_1483insA | c.1280dup | p.Pro428fs | Pathogenic | Renieri (1996) | Alport syndrome; truncated protein. |
| Exon 20 | Missense | never used | c.1286G>A | p.Gly429Glu | Pathogenic | Tazon-Vega (2007) | Alport Syndrome |
| Exon 20 | Insertion | 1486_1487insG | c.1288dup | p.Ala430fs | Pathogenic | Wang (2005) | Alport syndrome originally documented as p.P446X |
| Exon 20 | Missense | never used | c.1294G>A | p.Gly432Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 20 | Missense | 1533T>G | c.1331T>G | p.Ile444Ser | Benign | Wang (2005) | Previously reported as a polymorphism (Inoue 1999 Barker 2001) .Detected in 3 of 60 families; In association with benign polymorphisms: G365G I444S L685L Q1171Q D1425D. 0.5% in ExAc |
| Intron 20 | Splice Site | 1542-2A>G | c.1340-2A>G | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. |
| Exon 21 | Deletion | 1552_1554delAT | c.1350_1351del | p.Ile450fs | Pathogenic | Plant (1999) | Alport syndrome. Protein truncation; Originally reported as 1550delAT fs450 stop+2 |
| Exon 21 | Deletion | 1568_1576del | c.1371_1379del | p.Pro458_Pro460del | Pathogenic | Martin (1998) | Alport syndrome. Late onset. Age ESRD: 38- also describe in Renieri (1996) and Hertz (2001). |
| Exon 21 | Deletion | 1578delC | c.1376delC | p.Pro459fs | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 21 | Insertion | c.1578insC | c.1376dup | p.Gly460fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 21 | Missense | 1599G>A | c.1397G>A | p.Gly466Glu | Pathogenic | Kawai (1996) | Alport Syndrome |
| Exon 21 | Missense | never used | c.1406G>A | p.Gly469Glu | Pathogenic | Nagel (2005) | Alport Syndrome. Originally reporte to be in exon 25. |
| Exon 21 | Missense | 1616G>A | c.1414G>A | p.Gly472Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 21 | Missense | never used | c.1423G>A | p.Gly475Ser | Pathogenic | Bekheirnia (2010) | Alport syndrome. Found in 2 families. Splicing might be affected (M. Gregory pers. com) |
| Intron 21 | Splice Site | 1625+1G>A | c.1423+1G>A | p.? | Pathogenic | Martin (1998) | Alport syndrome. Late onset ESRD at >35 |
| Intron 21 | Splice Site | 1625+56_1625+57ins | c.1423+57dup | p.? | Pathogenic | Wang (2005) | Alport Syndrome. cDNA analysis shows partial ckipping of exon 22. |
| Intron 21 | Splice Site | never used | c.1424-20T>A | p.? | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 32-Skip exon 22 in ectopic RT-PCR product (M. Gregory pres. com.) |
| Intron 21 | Splice Site | 1626-1G>A | c.1424-1G>A | p.Gly475_Pro505del | Pathogenic | Wang (2005) | Alport Syndrome. RNA analysis revealed r.1626_1718del (del Exon 22) |
| Exon 22-28; 38-51 | Large Deletion | never used | c.1424-?_2244+?del; 3374-?_5058+?del |
p.? | Pathogenic | Lemmink (1997) | Alport syndroem. truncated protein |
| Exon 22 | Missense | 1674G>A | c.1472G>A | p.Gly491Glu | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 22 | Missense | 1683G>A | c.1481G>A | p.Gly494Asp | Pathogenic | Renieri (1996) | Alport syndrome. |
| Exon 22 | Deletion | 1685del36 | c.1483del36 | p.Gln495_Gly506del | Pathogenic | Renieri (1996) | Alport syndrome. De novo mutation. In frame deletion of 12 amino acids |
| Exon 22 | Missense | 1691G>T | c.1489G>T | p.Gly497Cys | Pathogenic | Knebelmann (1996) | Alport Syndrome late onset mean age at ESRD: 47 |
| Exon 22 | Missense | never used | c.1498G>C | p.Gly500Arg | Pathogenic | Tan (2010) | Alport syndrome. ESRD after 30 |
| Intron 22 | Splice Site | never used | c.1516+1G>A | p.? | Pathogenic | Nagel (2005) | Alport syndrome. RNA studies: Two aberrant mRNA: skipping of exon 22 and skipping of exon 22 with insertion of 44 bp of intron 21. |
| Intron 22 | Splice Site | never used | c.1517-1G>T | p.? | Pathogenic | Tang (2008) | Alport syndrome. |
| Exon 23 | Deletion | 1744_1745delAG | c.1542_1543del | p.Glu516fs | Pathogenic | Plant (1999) | Alport syndrome Protein truncation late onset (ESRD at 30) |
| Exon 23 | Missense | 1763G>T | c.1561G>T | p.Gly521Cys | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 23 | Missense | 1764G>A | c.1562G>A | p.Gly521Asp | Pathogenic | King (2006) | Alport Syndrome |
| Exon 23 | Deletion | 1768delA | c.1567del | p.Thr523fs | Pathogenic | Renieri (1996) | Alport syndrome; truncated protein. Orignally reported as 523fs |
| Exon 23 | Missense | 1773G>A | c.1571G>A | p.Gly524Asp | Pathogenic | Knebelmann (1996) | Alport Syndrome late onset mean age at ESRD: 41 |
| Exon 23 | Deletion | 1783_1798del16 | c.1581_1596del | p.Leu528fs | Pathogenic | Plant (1999) | Alport syndrome. Aberrant splicing. Observed in 2 independant famillies |
| Intron 23 | Splice Site | 1789+1delG | c.1587+1delG | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome. Originally Documented as 1791+1delG. |
| Intron 23 | Splice Site | 1789+1G>A | c.1587+1G>A | p.? | Pathogenic | Martin (1998) | Alport syndrome |
| Exon 24 | Missense | never used | c.1589G>A | p.Gly530Asp | Pathogenic | Zhang (2011) | Alport syndrome. |
| Exon 24 | Missense | never used | c.1598G>A | p.Gly533Glu | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 32 |
| Exon 24 | Missense | never used | c.1607G>A | p.Gly536Asp | Pathogenic | Tazon-Vega (2007) | Alport syndrome |
| Exon 24 | Missense | 1835G>C | c.1633G>C | p.Gly545Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 24 | Missense | 1836G>T | c.1634G>T | p.Gly545Val | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 24 | Missense | never used | c.1643G>A | p.Gly548Asp | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 45 |
| Exon 24 | Deletion | 1855delC | c.1653delC | p.Leu550fs | Pathogenic | Wang (2005) | Alport syndrome; originally documented as 1855_1856delC p.G555X |
| Exon 24 | Missense | 1874G>C | c.1672G>C | p.Gly558Arg | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 24 | Missense | 1883G>A | c.1681G>A | p.Gly561Arg | Pathogenic | Plant (1999) | Alport syndrome. De novo mutation |
| Exon 24 | Missense | never used | c.1690G>T | p.Gly564Cys | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 24 | Missense | 1902G>C | c.1700G>C | p.Gly567Ala | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 24 | Missense | 1920G>A | c.1718G>A | p.Gly573Asp | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 24 | Missense | never used | c.1726G>A | p.Gly576Ser | Pathogenic | Bekheirnia (2010) | Alport syndrome. Late onset.ESRD at 44. |
| Exon 24 | Missense | 1937G>A | c.1735G>A | p.Gly579Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 24 | Missense | 1937G>A | c.1736G>A | p.Gly579Gln | Pathogenic | Inoue (1999) | Alport syndrome |
| Exon 24 | Nonsense | never used | c.1738C>T | p.Gln580X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 24-26 | Large Deletion | 1941del1.4kb (to 2150+98) |
c.1739_1948+98del | p.Gln580_Gly650delinsArg | Pathogenic | Plant (1999) | Alport Syndrome. Originally Documented as 1941 del1.4kb (to 2150+98) del aa 545-649 |
| Exon 24 | Missense | never used | c.1744G>A | p.Gly582Arg | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 24 | Deletion | c.1959_1972del14 | c.1757_1770del | p.Leu586fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 24 | Splice Site | 1981+1G>T | c.1779+1G>T | p.? | Pathogenic | Renieri (1996) | Alport syndrome. 5' splice signal |
| Intron 24 | Splice Site | c.1981+3G>C | c.1779+3G>C | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 24 | Splice Site | 1982-1G>A | c.1780-1G>A | p.? | Pathogenic | King (2006) | Alport Syndrome. Acceptor splice disruption. |
| Exon 25 | Missense | 1982G>A | c.1780G>A | p.Gly594Ser | Pathogenic | Hertz (2001) | Alport syndrome; found in four apparently unrelated families. late onset . Age at ESRD in male 28-74 |
| Exon 25 | Missense (or splice site) | 1985G>A | c.1783G>A | p.Gly595Arg | Pathogenic | Hertz (2001) | Alport Syndrome late onset (age at ESRD in male 30). Wang (2012) classifies as splicing defect and observed deletion of exon 25 sequences from mRNA. |
| Exon 25 | Missense | 2010G>T | c.1808G>T | p.Gly603Val | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 25 | Missense | 2027G>C | c.1825G>C | p.Gly609Arg | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 25 | Missense | 2028G>T | c.1826G>T | p.Gly609Val | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 25 | Missense | never used | c.1835G>A | p.Gly612Asp | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 25 | Missense/Splice Site | never used | c.1856C>T | p.Pro619Leu | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Observed in a male with late onset ESDR (38 years old)Mutation should change a Proline to a leucine. cDNA studies showed that splicing is affected and nt 1780-1885 deleted from the cDNA. Reported by others (Hertz 2001 Palenzuela 2002) |
| Exon 25 | Missense | 2063G>T | c.1861G>T | p.Gly621Cys | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 25 | Missense | 2073G>A | c.1871G>A | p.Gly624Asp | Pathogenic | Slajpah (2007) | Alport syndrome. Interrupts continuous Gly-X-Y. Found in 6 unrelated Slovenian famillies (Slajpah 2007). Previously reported By Martin (1998). Reported as moderate in Hellenic families by Dermothenous et al 2012. Reported as c.1871C>A in Fallerini_2014. 0.015% in AE in ESP 0.008% in ExAc |
| Exon 25 | Missense | 2079G>C | c.1877G>C | p.Gly626Ala | Pathogenic | Hertz (2001) | Alport Syndrome -moderate (age at ESRD in male 38-60) |
| Exon 25 | Missense | never used | c.1883C>T | p.Pro628Leu | Pathogenic | Demosthenous (2012) | Alport Syndrome moderate (age at ESRD in male 30-57) |
| Exon 25 | Missense | 2088G>A | c.1886G>A | p.Gly629Asp | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 25 | Missense | 2097G>A | c.1895G>A | p.Gly632Asp | Pathogenic | Knebelmann (1996) | Alport Syndrome. De novo mutation |
| Exon 25 | Missense | 2099G>A | c.1897G>A | p.Glu633Lys | Pathogenic | Inoue (1999) | Alport Syndrome. moderate (>30years at ESRD) |
| Exon 25 | Missense | 2106G>A | c.1904G>A | p.Gly635Asp | Pathogenic | Martin (1998) | Alport syndrome |
| Exon 25 | Missense | 2114G>A | c.1912G>A | p.Gly638Ser | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 25 | Missense | 2115G>C | c.1913G>C | p.Gly638Ala | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 25 | Missense | 2115G>T | c.1913G>T | p.Gly638Val | Pathogenic | Plant (1999) | Alport syndrome |
| Intron 25 | Splice Site | 2150+1G>A | c.1948+1G>A | p.? | Pathogenic | Wang (2005) | Affected Individual. del Exon 25 |
| Exon 26-29 | Large Deletion | never used | c1949-?_2395+?del | p.? | Pathogenic | Plant (1999) | Effect Unknown. Clinical information in that patient were not available |
| Exon 26-37 | Large Deletion | never used | c.1949-?_3373+?del | p.? | Pathogenic | Hertz (2008) | Alport Syndrome. |
| Exon 26 | Missense | 2159G>A | c.1957G>A | p.Gly653Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 26 | Deletion | 2162delG | c.1960delG | p.Asp654fs | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 26 | Missense | 2194G>T | c.1992G>T | p.Lys664Asn | Benign | Slajpah (2007) | Associated with Alport patients and healphy individuals. 1.3% in AE in ESP 0.8% in ExAc |
| Exon 26 | Missense | 2199G>A | c.1997G>A | p.Gly666Asp | Pathogenic | Slajpah (2007) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 26 | Missense | 2207G>C | c.2005G>C | p.Gly669Arg | Pathogenic | Wang (2005) | Alport syndrome |
| Exon 26 | Missense | 2208G>C | c.2006G>C | p.Gly669Ala | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 26 | Missense | never used | c.2014G>C | p.Gly672Arg | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 26 | Deletion | 2220delG | c.2018delG | p.Arg673fs | Pathogenic | Renieri (1996) | Alport syndrome. De novo mutation. truncated protein. 673fs |
| Exon 26 | Missense | never used | c.2023G>A | p.Gly675Ser | Pathogenic | Nagel (2005) | Alport Syndrome |
| Intron 26 | Splice Site | 2243+1G>T | c.2041+1G>T | p.? | Pathogenic | Martin (1998) | Alport syndrome. |
| Intron 26 | Splice Site | never used | c.2042-18A>G | p.? | Pathogenic | Savige (2008) | Alport syndrome. Reported in Human Genetics' novel human pathological mutations. cDNA data in Hashimura 2014 indicated skipping of exon 27 |
| Exon 27 | Missense | 2244G>A | c.2042G>A | p.Gly681Asp | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 27 | Nonsense | 2252G>T | c.2050G>T | p.Gly684X | Pathogenic | Plant (1999) | Alport Syndrome. Protein truncation |
| Exon 27 | Missense | 2253G>T | c.2051G>T | p.Gly684Val | Pathogenic | Kawai (1996) | Alport Syndrome; Reported as adult type by authors. |
| Exon 27 | Silent | 2257T>C | c.2055T>C | p.= | Benign | Barker (2001) | In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease |
| Exon 27 | Deletion | never used | c.2057del | p.Pro686fs | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Frame shift mutation |
| Exon 27 | Missense | 2262G>A | c.2060G>A | p.Gly687Glu | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 27 | Insertion | never used | c.2062_2114dup | p.Ile706fs | Pathogenic | Tazon-Vega (2007) | Alport syndrome. cDNA study indicated skipping of exon 27. |
| Exon 27 | Nonsense | never used | c.2098G>T | p.Glu700X | Pathogenic | Hertz (2008) | Alport syndrome |
| Exon 27 | Missense | 2309A>G | c.2107A>G | p.Ile703Val | Benign | Wang (2005) | Found in conjunction with p.G325R mutation. Pathogenicity of this substitution not established |
| Exon 27 | Missense | 2348G>C | c.2146G>C | p.Gly716Arg | Pathogenic | Kawai (1996) | Alport Syndrome Donor splice. Skip exon 28 |
| Intron 27 | Splice Site | never used | c.2146+3A>C | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. |
| Intron 27 | Splice Site | 2349-3C>G | c.2147-3C>G | p.? | Pathogenic | Martin (1998) | Alport syndrome. Reported only in female with mild phenotype. Reported as c.2439 in Bekheirnia (2010) |
| Intron 27 | Splice Site | never used | c.2147-2A>G | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutation in donor splice signal. |
| Exon 28 | Deletion | 2349delG | c.2147del | p.Gly716fs | Pathogenic | Martin (1998) | Alport syndrome . Truncated protein |
| Exon 28-32 | Large Duplication | never used | c.2147-?_2767+?dup | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. Aberrant protein |
| Exon 28 | Missense | never used | c.2155G>C | p.Gly719Arg | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD>38 |
| Exon 28 | Missense | never used | c.2164G>C | p.Gly722Arg | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 28 | Missense | 2367G>A | c.2165G>A | p.Gly722Glu | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 28 | Deletion | 2408_2428del21 | c.2207_2227del | p.Glu736_Pro742del | Pathogenic | King (2006) | Alport Syndrome. In frame deletion of 7 aa |
| Exon 28 | Missense | never used | c.2215C>T | p.Pro739Ser | Pathogenic | Cheong (2000) | Alport syndrome |
| Exon 28 | Missense | 2421G>A | c.2219G>A | p.Gly740Glu | Pathogenic | Kawai (1996) | Alport Syndrome. Originaly reported as c.2420 G>A |
| Exon 28 | Missense | 2430G>A | c.2228G>A | p.Gly743Asp | Pathogenic | Plant (1999) | Alport syndrome |
| Intron 28 | Splice Site | c.2446+1G>T | c.2244+1G>T | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 28 | Splice Site | 2446+2T>C | c.2244+2T>G | p.? | Pathogenic | King (2006) | Alport Syndrome. Donor splice disruption |
| Intron 28 | Splice Site | 2447-1G>A | c.2245-1G>A | p.? | Pathogenic | Martin (1998) | Alport syndrome |
| Exon 29 | Missense | never used | c.2287G>A | p.Gly763Arg | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 29 | Missense | never used | c.2288G>A | p.Gly763Glu | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 42 |
| Exon 29 | Missense | 2499G>A | c.2297G>A | p.Gly766Asp | Pathogenic | Hertz (2001) | Alport Syndrome late onset (age at ESRD in male 36) |
| Exon 29 | Missense | never used | c.2305G>A | p.Gly769Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 29 | Missense | 2517G>A | c.2315G>A | p.Gly772Asp | Pathogenic | Kawai (1996) | Alport Syndrome |
| Exon 29 | Missense | never used | c.2315G>C | p.Gly772Ala | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 29 | Insertion | 2524_2525insA | c.2322dup | p.Gly775fs | Pathogenic | Hertz (2001) | Alport Syndrome Protein truncation. Originally reported as 2520_2521insA |
| Exon 29 | Missense | 2534G>A | c.2332G>A | p.Gly776Ser | Pathogenic | Plant (1999) | Alport syndrome. Possible late onset age ESRD 33-42 |
| Exon 29 | Deletion | 2550delC | c.2348delC | p.Pro783fs | Pathogenic | Martin (1998) | Alport syndrome. Originally Documented as 2549delC |
| Exon 29 | Silent | 2551G>A | c.2349G>A | p.= | Benign | Barker (2001) | In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease |
| Exon 29 | Missense | 2562G>T | c.2360G>T | p.Gly787Val | Pathogenic | King (2006) | Alport Syndrome |
| Exon 29 | Missense | 2588G>A | c.2386G>A | p.Gly796Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 29 | Splice Site | c.2596A>G | c.2394A>G | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. K798K Splice site variant. Found in affected members (age ESRD= 16-36). Exon 29 skipped (M. Gregory pers. Com) |
| Intron 29 | Splice Site | 2597+2delT | c.2395+2delT | p.? | Pathogenic | Renieri (1996) | Alport syndrome. 5' splice signal |
| Intron 29 | Splice site | c.2395+2750A>G | c.2395+2750A>G | p.? | Pathogenic | King (2002) | Alport syndrome. This mutation creates a novel acceptor site in intron 29 that is used for splicing of a novel exon (cDNA evidence).Wrong reference link in HGMD |
| Exon 30 | Deletion | 2606-2623del | c.2404-2421del18 | p.Gly802_Pro807del | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 30 | Missense | 2606G>A | c.2404G>A | p.Gly802Arg | Pathogenic | Knebelmann (1996) | Alport syndrome. De novo mutation |
| Exon 30 | Missense | 2625G>A | c.2423G>A | p.Gly808Glu | Pathogenic | Plant (1999) | Alport syndrome Possible late onset age ESRD <43 |
| Exon 30 | Missense | 2633G>A | c.2431G>A | p.Gly811Arg | Pathogenic | Slajpah (2007) | Alport syndrome. Originally Documented as 2633C>A instead of G>A |
| Exon 30 | Missense | 2634G>T | c.2432G>T | p.Gly811Val | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 30 | Indel | 2636delCCTCCTGG insAACCTGGACCAA TGGGACCAATGGGA ACAC;2636del8ins30 |
c.2434_2441deli nsAACCTGGACCAAT GGGACCAATGGGAA CAC |
p.Pro812fs | Pathogenic | Martin (1998) | Alport syndrome. Creates frameshift. |
| Exon 30 | Indel | 2654_2656delATA/ 2653_2654insT |
c.2452_2454delinsT | p.Ile818fs | Pathogenic | Hertz (2001) | Alport Syndrome Protein truncation |
| Exon 30 | Deletion | 2666_2674del9 | c.2475_2483del | p.Pro826_Gly828del | Pathogenic | Plant (1999) | Alport syndrome. One Gly-X-Y deleted |
| Exon 30 | Missense | 2666G>C | c.2464G>C | p.Gly822Arg | Pathogenic | Cruz-Robles (1999) | Alport Syndrome. ESRD>30 years old |
| Exon 30 | Missense | never used | c.2465G>C | p.Gly822Val | Pathogenic | Jovanovic direct submission | Interruppt Gly-X-Y segment. Observed I a mother with ESRD (50) and daugher with mild to moderate renal function impairment and microhematuria |
| Exon 30 | Nonsense | never used | c.2473G>T | p.Gly825X | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 30 | Deletion | never used | c.2477del | p.Pro826fs | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 44 |
| Exon 30 | Missense | never used | c.2483G>A | p.Gly828Glu | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 30 | Missense | never used | c.2500G>C | p.Gly834Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 30 | Splice Site | never used | c.2509G>A | p.? | Pathogenic | Tazon-Vega (2007) | Alport syndrome. 5'ss weakened cryptic 5' and 3' ss activated; in frame insertion of 9nt of intron 30 as a mini exon of 3 aa |
| Intron 30 | Splice Site | 2712-33A>G | c.2510-33A>G | p.? | Pathogenic | Barker (2001) | Mild AS. No changes evident by mRNA study classified as polymorphism in Barker 2001. |
| Exon 31 | Deletion | 2712delG | c.2510del | p.Gly837fs | Pathogenic | King (2006) | Alport Syndrome. Truncated protein |
| Exon 31-36 | Large Deletion | never used | c2510-?_3246+?del | p.? | Pathogenic | King (2006) | Alport Syndrome |
| Exon 31 | Large Deletion | c.2712-?_2789+?del | c.2510-?_2677+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exon 31. Reported as c.2712-?_2779+?del |
| Exon 31 | Deletion | 2752_2775del | c.2550_2573del | p.Pro851_Pro858del | Pathogenic | Wang (2005) | Alport syndrome; inframe deletion |
| Exon 31 | Missense | 2756G>A | c.2554G>A | p.Gly852Arg | Pathogenic | Kawai (1996) | Alport Syndrome |
| Exon 31 | Missense | 2757G>A | c.2555G>A | p.Gly852Glu | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 31 | Missense | never used | c.2578G>C | p.Gly860Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 31 | Indel | never used | c.2587_2606delins75 | p.? | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 31 | Deletion | 2791del36 | c.2590_2625del | p.Ser864_Gly875del | Pathogenic | Martin (2000) | Alport syndrome |
| Exon 31 | Deletion | 2797-2814del18 | c.2595_2612del | p.Gly866_Pro871del | Pathogenic | Gross (2002) | Alport Syndrome |
| Exon 31 | Missense | 2799G>A | c.2597G>A | p.Gly866Glu | Pathogenic | Renieri (1996) | Alport syndrome. Late onset ESRd at age >31. Detected in two apparently unrelated families |
| Exon 31 | Missense | 2807G>A | c.2605G>A | p.Gly869Arg | Pathogenic | Plant (1999) | Alport syndrome. Found in five unrelated individuals and reported previously in two unrelated Italian families [Renieri] a French family [Knebelmann]. Also reported by Martin 1998. Reported in 3 additional chinese patients (Wang 2012). late onset age at ESRD: 19-35 |
| Exon 31 | Missense | 2816G>C | c.2614G>C | p.Gly872Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 31 | Missense | never used | c.2623G>C | p.Gly875Arg | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 31 | Missense | never used | c.2624G>A | p.Gly875Glu | Pathogenic | Tazon-Vega (2007) | Alport syndrome. |
| Exon 31 | Deletion | 2827delA | c.2625del | p.Gly875fs | Pathogenic | Plant (1999) | Alport syndroem. Protein truncation; originally documented as fs 876 stop+25 |
| Exon 31 | Missense | 2835G>T | c.2633G>T | p.Gly878Val | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 31 | Deletion | 2845delG | c.2643del | p.Leu882fs | Pathogenic | Barker (2001) | Alport syndrome. Truncated protein |
| Exon 31 | Missense | never used | c.2659G>C | p.Gly887Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 31 | Missense | never used | c.2660G>T | p.Gly887Val | Pathogenic | Nagel (2005) | Alport Syndrome |
| Intron 31 | Splice site | never used | c.2678-10T>G | p.Gly893_Gly923del | Pathogenic | King (2002) | Alport syndrome. This mutation affect efficiency of the acceptor splicing site resulting in skipping of exon 32 (cDNA data) |
| Exon 32 | Missense | never used | c.2678G>T | p.Gly893Val | Pathogenic | Bekheirnia (2010) | Alport syndrome. Splicing possibly affected |
| Exon 32-36 | Large Deletion | never used | c.2678-?_3246+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport Syndrome. Deletion exons 32-36 |
| Exon 32 | Deletion | c.2888delG | c.2687del | p.Gly896fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 32 | Missense | 2894A>G | c.2692A>G | p.Met898Val | Uncertain | Barker (2001) | Mild AS. M898 conserved in other collagen and other species: female with hematuria and father with hematuria and HL only at age 70. 0.014% in AE in ESP. 0.03% in ExAc |
| Exon 32 | Deletion | never used | c.2696_2705del | p.Gly899fs | Pathogenic | Zhang (2011) | Alport syndrome |
| Exon 32 | Missense | never used | c.2696G>T | p.Gly899Val | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 32 | Missense | never used | c.2705G>T | p.Gly902Val | Pathogenic | Cheong (2000) | Alport syndrome |
| Exon 32 | Insertion | never used | c.2708dup | p.Pro904fs | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Reported as g.2707_2708insC |
| Exon 32 | Missense | never used | c.2722G>A | p.Gly908Arg | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 32 | Missense | never used | c.2731G>A | p.Gly911Arg | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 32 | Missense | never used | c.2732G>A | p.Gly911Glu | Pathogenic | Cheong (2000) | Alport syndrome |
| Exon 32 | Indel | 2948del13insAT | c.2746del13insAT | p.Ser916fs | Pathogenic | Plant (1999) | Alport sydrome.Protein truncation; Originally reported as fs 916 stop+2 reported in with 2767+19dup2760_2767+19 |
| Exon 32 | Missense | 2948A>G | c.2746A>G | p.Ser916Gly | Pathogenic | Barker (2001) | Alport Syndrome- causes skipping of exon 32-demonstrated by mRNA studies |
| Intron 32 | Splice site | never used | c.2767+2delT | p.? | Pathogenic | Tazon-Vega (2007) | Alport syndrome. 5'ss inactivated exon 32 skipped (in frame) |
| Intron 32 | Splice Site | 2970-11A>G | c.2768-11A>G | p.? | Benign | Barker (2001) | In benign haplotype with c.609+21T>C - Does not always segregate with disease. |
| Exon 33 | Nonsense | never used | c.2782C>T | p.Gln928X | Pathogenic | Bekheirnia (2010) | Alport syndrome. Reported in 2 individuals. Age of ESRD 32-33 |
| Exon 33 | Nonsense | 2990C>T | c.2788C>T | p.Gln930X | Pathogenic | Wang (2005) | Alport syndrome; truncated protein |
| Exon 33 | Insertion | 3004_3005insT | c.2802dup | p.Gly935fs | Pathogenic | Hertz (2001) | Alport Syndrome Protein truncation |
| Exon 33 | Missense | never used | c.2804G>A | p.Gly935Asp | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 33 | Missense | 3023G>T | c.2821G>T | p.Gly941Cys | Pathogenic | Hertz (2001) | Alport Syndrome late onset (age at ESRD in male >50). Also classified as adult type by Martin 1998 (age ESRD: 40) |
| Exon 33 | Deletion | 3025delTAG | c.2825_2827del | p.Ser942del | Pathogenic | Renieri (1996) | Alport syndrome. De novo mutation. In frame deletion of 1amino acid |
| Exon 33 | Missense | 3042 G>A | c.2840G>A | p.Gly947Asp | Pathogenic | Inoue (1999) | Alport syndrome |
| Exon 33 | Deletion | 3048delC | c.2846del | p.Pro949fs | Pathogenic | King (2006) | Alport Syndrome. Truncated protein |
| Exon 33 | Missense | 3060G>T | c.2858G>T | p.Gly953Val | Likely Benign | Knebelmann (1996) | This mutation is reported in several individuals with Alport syndrome but has been reported on the same allele as reportedly pathogenic variants (p.Gly1211Glu and p.Gly1158Arg) (Knebelmann 1996, Inoue 1999, Wang 2012). This variant is found in the East Asian population with an overall allele frequency of 3.7% (513/13865 alleles, including 7 homozygotes and 169 hemizygotes) in the Genome Aggregation Database. The increased allele frequency in East Asians indicates this variant is likely benign. |
| Intron 33 | Splice Site | 3119+1G>C | c.2917+1G>C | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Intron 33 | Splice Site | c.3119+1G>T | c.2917+1G>T | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 33 | Splice Site | 3120-1G>T | c.2918-1G>T | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome; late onset mean age ESRD: 30.5 years |
| Exon 34-51 | Large Deletion | never used | c.2918-?_5058+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del 300kb. Truncated protein |
| Exon 34 | Deletion | 3131delAG | c.2928_2929del | p.Val977fs | Pathogenic | Plant (1999) | Alport syndrome. Originally reported as fs 971 stop+15 |
| Exon 34 | Deletion | 3145delA | c.2943del | p.Lys981fs | Pathogenic | Peissel (1994) | Alport syndrome. Juvenile case. Truncated protein |
| Exon 34 | Deletion | never used | c.2947del | p.Tyr983fs | Pathogenic | Demosthenous (2012) | Alport syndrome. reported as deletion of T at position c.2946delT (G982fs). Current nomenclature classifies it as c.2947del (p.Tyr983Ilefs13). |
| Exon 34 | Deletion | 3161_3178del18 | c.2965_2982del | p.Asp989_Gly994del | Pathogenic | Plant (1999) | Alport Syndrome. 2 Gly-X-Y deleted |
| Exon 34 | Deletion | 3167delG | c.2965del | p.Asp989fs | Pathogenic | Lemmink (1997) | Originally documented as 3166delG |
| Exon 34 | Missense | never used | c.2999G>T | p.Gly1000Val | Benign | Kaneko (2010) | Associated with benign familial hematuria |
| Intron 34 | Splice Site | 3218+1G>T | c.3016+1G>T | p.? | Pathogenic | Barker (2001) | Alport Syndrome |
| Intron 34 | Splice Site | never used | c.3017-4A>G | p.? | Uncertain | Ma (2011) | Alport Syndrome. Prediction to affect splicing is weak. Need cDNA confirmation |
| Intron 34 | Splice Site | 3219-1G>A | c.3017-1G>A | p.? | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 35 | Missense | 3219G>T | c.3017G>T | p.Gly1006Val | Pathogenic | Barker (2001) | Alport Syndrome. Also mutates splice acceptor site but no RNA changes observed. Late onset (66 at ESRD- Bekheirnia 2010) |
| Exon 35-36 | Large Deletion | never used | c.3017-?_3246+?del | p.? | Pathogenic | King (2006) | Alport Syndrome |
| Exon 35 | Missense | 3246G>T | c.3044G>T | p.Gly1015Val | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 35 | Nonsense | 3248C>T | c.3046C>T | p.Gln1016X | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 35 | Deletion | never used | c.3046del | p.Gln1016fs | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 35 | Deletion | 3259delT | c.3057del | p.Leu1019fs | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 35 | Missense | 3282G>T | c.3080G>T | p.Gly1027Val | Pathogenic | Wang (2005) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 35 | Missense | 3290G>A | c.3088G>A | p.Gly1030Ser | Pathogenic | Martin (1998) | Alport syndrome. Late onset. Age at ESRD: 37 |
| Intron 35 | Splice Site | never used | c.3106+4del; 3106+6_17del | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal |
| Intron 35 | Splice Site | 3309-2A>G | c.3107-2A>G | p.? | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 36 | Missense | 3309G>T | c.3107G>T | p.Gly1036Val | Pathogenic | Knebelmann (1996) | Alport syndrome.De novo mutation |
| Exon 36 | Missense | 3317G>A | c.3115G>A | p.Gly1039Ser | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 36 | Missense | 3336G>A | c.3134G>A | p.Gly1045Glu | Pathogenic | Martin (2000) | Alport syndrome |
| Exon 36 | Deletion | c.3369delC | c.3167del | p.Pro1056fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 36 | Nonsense | 3371G>T | c.3169G>T | p.Gly1057X | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 36 | Nonsense | 3380G>T | c.3178G>T | p.Gly1060X | Pathogenic | Martin (1998) | Alport syndrome. Truncated protein |
| Exon 36 | Nonsense | 3383C>T | c.3181C>T | p.Gln1061X | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 36 | Missense | never used | c.3188G>T | p.Gly1063Val | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 36 | Missense | 3398G>C | c.3196G>C | p.Gly1066Arg | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 36 | Missense | 3398G>A | c.3196G>A | p.Gly1066Ser | Pathogenic | Martin (1998) | Alport syndrome. Reported in unrelated patients. 0.001% in ExAc |
| Exon 36 | Missense | 3399G>C | c.3197G>C | p.Gly1066Ala | Pathogenic | Barker (2001) | Alport Syndrome |
| Exon 36 | Missense | never used | c.3206G>T | p.Gly1069Val | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 36 | Nonsense | 3414C>G | c.3212C>G | p.Ser1071X | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 36 | Missense | never used | c.3247G>A | p.Gly1083Ser | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 37 | Deletion | never used | c.3247-?_3373+?del | p.? | Pathogenic | Tazon-Vega (2007) | Alport Syndrome. Deletion of exon 37 from RNA Creates frameshift and early termination |
| Exon 37-45 | Large Deletion | never used | c.3247-?_4198+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 37-51 | Large Deletion | never used | c.3247-?_5058+?del | p.? | Pathogenic | Nozu (2008) | Alport Syndrome. |
| Exon 37 | Large Deletion | never used | c.3247-?_3373+?del | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Deletion exon 37- reported also by Tazon-Vega (2007) |
| Exon 37 | Silent | 3457G>A | c.3255T>A | p.= | Benign | Inoue (1999) | Suspected polymorphism |
| Exon 37 | Missense | never used | c.3256G>C | p.Gly1086Arg | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Late onset at ESRD (male 33 years) |
| Exon 37 | Missense | 3459G>A | c.3257G>A | p.Gly1086Asp | Pathogenic | Martin (2000) | Alport syndrome |
| Exon 37 | Nonsense | 3491A>T | c.3289A>T | p.Lys1097X | Pathogenic | Martin (1998) | Alport syndrome . Truncated protein |
| Exon 37 | Missense | 3513G>T | c.3311G>T | p.Gly1104Val | Pathogenic | Kawai (1996) | Alport Syndrome |
| Exon 37 | Missense | 3521G>A | c.3319G>A | p.Gly1107Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 37 | Insertion | c.3528insT | c.3326_3327insT | p.Gly1110fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 37 | Deletion | 3533delA | c.3331del | p.Thr1111fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; Originally documented as 1110fs |
| Exon 37 | Insertion | 3539_3540insCCTG | c.3334_3337dup | p.Gly1113fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; Originally documented as 1112fs |
| Exon 37 | Missense | never used | c.3347G>T | p.Gly1116Val | Pathogenic | Bekheirnia (2010) | Alport syndrome. Late onset ESRD at 48 no occular changes or hearing lost observed |
| Intron 37 | Splice Site | c.3575+1G>A | c.3373+1G>A | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 37 | Splice Site | 3576-11C>A | c.3374-11C>A | p.? | Pathogenic | Martin (2000) | Found in an Alport syndrome patient. Coorelates with disease. No RNA data. |
| Exon 38-41 | Large Deletion | never used | c.3374-?_3790+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 38-46 | Insertion | never used | not available | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. truncated protein |
| Exon 38-51 | Large Deletion | never used | c.3374-?_5058+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del34 kb. truncated protein |
| Exon 38-51 | Large Duplication | never used | c.3374-?_5058+?dup | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. ~35kb dupl (exon 38-51) Aberrant protein. Late onset ESRD 33 |
| Exon 38 | Indel | c.3605del16ins3 | c.3403_3418delins3 | p.Ile1135fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 38 | Deletion | 3615delC | c.3413del | p.Pro1138fs | Pathogenic | Slajpah (2007) | Originally documented as 3615_3616delC |
| Exon 38 | Missense | 3629G>A | c.3427G>A | p.Gly1143Ser | Pathogenic | Renieri (1996) | Alport syndrome. Late age on onset (39 (M) -63 F). Reported by others |
| Exon 38 | Missense | 3630G>A | c.3428G>A | p.Gly1143Asp | Pathogenic | Hertz (2001) | Alport Syndrome. |
| Intron 38 | Splice Site | 3656+1G>T | c.3454+1G>T | p.? | Pathogenic | Hertz (2001) | Alport Syndrome. Skips exon38; identified in two apparently unrelated families |
| Intron 38 | Splice Site | 3657-9A>G | c.3455-9A>G | p.? | Pathogenic | Martin (2000) | Alport syndrome. Late age on onset (37.3) |
| Exon 39 | Missense | 3674G>A | c.3472G>A | p.Gly1158Arg | Pathogenic | Inoue (1999) | Alport Syndrome. Associated with G953V and slight proteinuria |
| Exon 39 | Deletion | 3676delG | c.3474del | p.Gly1158fs | Pathogenic | Hertz (2001) | Alport Syndrome; Protein truncation |
| Exon 39 | Missense | 3683G>A | c.3481G>A | p.Gly1161Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 39 | Missense | 3701G>A | c.3499G>A | p.Gly1167Ser | Pathogenic | Martin (2000) | Alport syndrome. Late age on onset (32.6) |
| Exon 39 | Missense | 3710G>A | c.3508G>A | p.Gly1170Ser | Pathogenic | Inoue (1999) | Alport syndrome. Classified as moderate in Pont-kingdon 2009. Age at ESRD 38. Found in patients with focal segmental glomerulosclerosis (Gast 2015) |
| Exon 39 | Deletion | 3711delG | c.3509del | p.Gly1170fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; 1170fs Originally documented as deletion of G at 3710-3711 |
| Exon 39 | Silent | 3715A>G | c.3513A>G | p.= | Benign | Barker (2001) | In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease |
| Exon 39 | Deletion | 3729delG | c.3527del | p.Gly1176fs | Pathogenic | Martin (1998) | Alport syndrome . Truncated protein |
| Exon 39 | Missense | never used | c.3535G>A | p.Gly1179Arg | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 39 | Nonsense | 3740C>T | c.3538C>T | p.Gln1180X | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 39 | Deletion | 3745_3751 delGGGTGAA |
c.3543_3549del | p.Lys1181fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein |
| Exon 39 | Missense | 3746G>C | c.3544G>C | p.Gly1182Arg | Pathogenic | Kawai (1996) | Alport Syndrome |
| Intron 39 | Splice Site | 3756-9C>G | c.3554-9C>G | p.? | Pathogenic | Martin (1998) | Alport syndrome |
| Intron 39 | Splice Site | 3756-3C>G | c.3554-3C>G | p.? | Pathogenic | Martin (1998) | Alport syndrome. Late onset age at ESRD 33 |
| Intron 39 | Splice Site | 3756-1G>A | c.3554-1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 40 | Deletion | never used | c.3554-?_3604+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome.Truncated protein |
| Exon 40 | Silent | 3784G>A | c.3582C>T | p.= | Benign | Inoue (1999) | Suspected polymorphism |
| Exon 40 | Missense | 3788G>A | c.3586G>A | p.Gly1196Arg | Pathogenic | Martin (1998) | Alport syndrome |
| Exon 40 | Missense | never used | c.3587G>A | p.Gly1196Glu | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 40 | Splice Site | never used | c.3604+3A>T | p.? | Pathogenic | Nagel (2005) | Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. Published as T>A in original paper |
| Intron 40 | Splice Site | 3807-3A>T | c.3605-3A>T | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Intron 40 | Splice Site | 3807-2A>G | c.3605-2A>G | p.? | Pathogenic | Gross (2002) | Alport Syndrome; hearing loss; AgGCC>tgGCC |
| Intron 40 | Splice Site | 3807-1G>A | c.3605-1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 41-51 | Large Deletion | never used | c.3605-?_5058+?del | p.? | Pathogenic | Plant (1999) | Alport syndrome ~450kb deleted no C-term |
| Exon 41 | Missense | 3815G>T | c.3613G>T | p.Gly1205Cys | Pathogenic | Knebelmann (1996) | Alport syndrome truncated protein |
| Exon 41 | Missense | never used | c.3613G>A | p.Gly1205Ser | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 41 | Deletion | 3820_3824delTGGA | c.3618_3622del | p.Asp1206fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; 1206fs |
| Exon 41 | Missense | 3833G>C | c.3631G>C | p.Gly1211Arg | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 41 | Missense | 3834G>A | c.3632G>A | p.Gly1211Glu | Pathogenic | Knebelmann (1996) | Alport syndrome- This mutation was detected on the same allele than p.G953V |
| Exon 41 | Missense | never used | c.3641G>A | p.Gly1214Glu | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 41 | Deletion | 3849delC | c.3647del | p.Pro1216fs | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 41 | Deletion | 3859_3930del | c.3657_3728del | p.Gly1220_Pro1243del | Pathogenic | Hertz (2001) | Alport Syndrome. 24 amino acids deleted in exon 41 |
| Exon 41 | Missense | 3861G>A | c.3659G>A | p.Gly1220Asp | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 41 | Missense | never used | c.3668G>T | p.Gly1223Val | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 41 | Missense | never used | c.3686G>A | p.Gly1229Asp | Pathogenic | Cheong (2000) | Alport syndrome. was reported as G1229N and c.3686G>A- adult type (Cheong 2000) ESRD at 33 (Bekheirnia 2010). |
| Exon 41 | Deletion | 3894delC | c.3692del | p.Pro1231fs | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 41 | Insertion | c.3894insC | c.3692dup | p.Gly1232fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 41 | Missense | 3896G>A | c.3694G>A | p.Gly1232Ser | Pathogenic | Wang (2005) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 41 | Nonsense | never used | c.3700C>T | p.Gln1234X | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 42 |
| Exon 41 | Indel | c.3908_3924delinsT | c.3706_3722delinsT | p.Pro1236fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 41 | Deletion | 3912del52 | c.3710_3761del | p.Pro1237fs | Pathogenic | Kawai (1996) | Alport Syndrome truncated protein |
| Exon 41 | Insertion | 3912_3913insCC | c.3709_3710dup | p.Gly1238fs | Pathogenic | Plant (1999) | Alport syndrome. |
| Exon 41 | Missense | 3923 G>T | c.3721G>T | p.Gly1241Cys | Pathogenic | Lemmink (1997) | Alport syndrome. De novo mutation |
| Exon 41 | Missense | never used | c.3722G>T | p.Gly1241Val | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 41 | Missense | 3933G>A | c.3731G>A | p.Gly1244Asp | Pathogenic | Barker (2001) | Alport syndrome. Reported as late onset. ESRD at 49.5 years in Pont-Kingdon et al 2009. |
| Exon 41 | Missense | 3956G>A | c.3754G>A | p.Gly1252Ser | Pathogenic | Knebelmann (1996) | Alport syndrome. Late onset ESRD (35 year) |
| Exon 41 | Insertion | 3959_3960insGGCA | c.3754_3757dup | p.Asn1253fs | Pathogenic | Kawai (1996) | Alport Syndrome truncated protein |
| Exon 41 | Missense | 3965G>A | c.3763G>A | p.Gly1255Arg | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 41 | Missense | 3984G>A | c.3782G>A | p.Gly1261Glu | Pathogenic | Martin (1998) | Alport syndrome |
| Intron 41 | Splice Site | 3992+1delG | c.3790+1delG | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome |
| Exon 42-47 | Large Deletion | never used | c.3791-?_4510+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del 15kb at end of protein (3 prime). |
| Exon 42 | Missense | 4010G>A | c.3808G>A | p.Gly1270Ser | Pathogenic | Hertz (2001) | Alport Syndrome late onset (age at ESRD in male 37-39) |
| Exon 42 | Deletion | 4016delC | c.3815del | p.Pro1272fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; 1272fs |
| Exon 42 | Indel | never used | c.3837_3845del;3854insA | p.? | Pathogenic | Zhang (2011) | Alport syndrome. Complex mutation unknown effect on protein |
| Exon 42 | Insertion | never used | c.3866_3869dup | p.? | Pathogenic | Tazon-Vega (2007) | Alport syndrome. Creates frameshift and early termination |
| Exon 42 | Deletion | 4122delT | c.3920del | p.Leu1307fs | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 42 | Missense | never used | c.3924G>C | p.Gln1308His | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Intron 42 | Splice Site | 4126+1G>C | c.3924+1G>C | p.? | Pathogenic | Cruz-Robles (1999) | Alport syndrome. Observed in Female. Possible adult type mutation |
| Intron 42 | Splice Site | never used | c.3925-2A>G | p.? | Pathogenic | Nagel (2005) | Alport syndrome. mutation in donor splice signal |
| Intron 42 | Splice Site | 4127-1G>A | c.3925-1G>A | p.? | Pathogenic | Plant (1999) | Alport syndrome. Tazon-Vega (2007) showed that 3' splice signal inactivated and exon 44 skipped (in frame). |
| Exon 43-44 | Large Deletion | never used | c.3925-?_4069+?del | p.? | Pathogenic | Barker (2001) | Alport syndrome |
| Exon 43 | Nonsense | never used | c.3958A>T | p.Lys1320X | Pathogenic | Minucci (2007) | Alport syndrome; Protein Truncation |
| Exon 43 | Deletion | 4194delT | c.3992del | p.Phe1331fs | Pathogenic | Renieri (1996) | Alport syndrome. Truncated protein; 1331fs |
| Exon 43 | Missense | 4199G>A | c.3997G>A | p.Gly1333Ser | Pathogenic | Plant (1999) | Alport syndrome |
| Intron 43 | Splice Site | never used | c.3998-2A>T | p.? | Pathogenic | Krol (2008) | Alport syndrome. 3 prime splice signal. Reported with a mild phenotype in a mosaic case. |
| Intron 43 | Splice Site | 4200-2A>G | c.3998-2A>G | p.? | Pathogenic | Renieri (1996) | Alport syndrome. 3 splice signal inactivated skips exon 44. |
| Exon 44 | Nonsense | never used | c.4006G>T | p.Gly1336X | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 44 | Deletion | 4245del6 4241G>A | c.4043del6; 4039G>A | p.Pro1350_Gly1351del; p.Gly1348Glu | Pathogenic | Renieri (1996) | Alport syndrome. interrupts continuous Gly-X-Y. Originally reported as DelPG1350-1351/G1348E |
| Exon 44 | Missense | 4271G>A | c.4069G>A | p.Gly1357Ser | Pathogenic | Martin (1998) | Alport syndrome |
| Intron 44 | Splice Site | 4271+1G>A | c.4069+1G>A | p.? | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 45-51 | Large Deletion | never used | c.4070-?_5058+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del 450kb from end of protein (3 prime). |
| Exon 45 | Deletion | 4273delT | c.4071del | p.Pro1358fs | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 45 | Deletion | 4304_4305delAG | c.4102_4103del | p.Ser1368fs | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 45 | Missense | 4338G>T | c.4136G>T | p.Gly1379Val | Pathogenic | Renieri (1996) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 45 | Nonsense | never used | c.4147C>T | p.Gln1383X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 45 | Insertion | 4363_4364insTCCT | c.4161_4162insTCCT | p.Gly1388fs | Pathogenic | Renieri (1996) | Alport syndrome. De novo insertion of TCCT Truncated protein; 1388fs |
| Exon 45 | Nonsense | never used | c.4171G>T | p.Gly1391X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 45 | Nonsense | 4379C>T | c.4177C>T | p.Gln1393X | Pathogenic | Inoue (1999) | Alport syndrome |
| Exon 45 | Deletion | c.4379delC | c.4177del | p.Gln1393fs | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Reported in 2 individuals. Age of ESRD 35 and 42 |
| Exon 45 | Insertion | 4398_4399insC | c.4196dup | p.Gly1400fs | Pathogenic | Gross (2002) | Alport Syndrome frameshift |
| Intron 45 | Splice Site | 4401-1G>A | c.4199-1G>A | p.? | Pathogenic | Gross (2002) | Alport Syndrome. AgGTC>aaGTC |
| Exon 46-47 | Indel | ins10-15kb; del25kb | ins10-15kb (intron 46); del25kb |
p.? | Pathogenic | Lemmink (1997) | Alport syndrome. ins10-15kb;exon 46/47; del25kb. Aberrant protein. |
| Exon 46-51 | Large Deletion | never used | c.4199-?_5058+?del | p.? | Pathogenic | King (2006) | Alport syndrome |
| Exon 46 | Insertion | 4416insC | c.4214dup | p.Gly1406fs | Pathogenic | Ermisch (2000) | Alport syndrome; Ermisch reported this insertion as c.4498insC |
| Exon 46 | Missense | 4430C>T | c.4228C>T | p.Arg1410Cys | Uncertain | Renieri (1996) | Alport syndrome. 0.015% in ESP 0.008% in ExAc (comprising two hemizygous in South Asian) |
| Exon 46 | Deletion | never used | c.4235del | p.Gly1412fs | Pathogenic | Ma (2011) | Alport Syndrome |
| Exon 46 | Silent | 4441C>T | c.4239C>T | p.= | Benign | Kawai (1996) | Found in patient with Alport but expected to be a polymorphism |
| Exon 46 | Indel | 4455_4464del dup4465_4482 |
c.4253_4262del; 4263_4280dup |
p.Gly1420fs | Pathogenic | Hertz (2001) | Alport Syndrome Protein truncation. Reported as fs in exon 48 |
| Exon 46 | Missense | 4463G>T | c.4261G>T | p.Gly1421Trp | Pathogenic | Renieri (1996) | Alport syndrome. Late onset at ESRD (33 years) |
| Exon 46 | Missense | never used | c.4271G>A | p.Gly1424Glu | Pathogenic | Zhang (2011) | Alport syndrome. |
| Exon 46 | Silent | 4477C>T | c.4275C>T | p.= | Benign | Barker (2001) | In benign haplotype: G365G I444S L685L Q1171Q D1425D. Does not always segregate with disease |
| Exon 46 | Missense | never used | c.4279G>T | p.Gly1427Cys | Pathogenic | Nagel (2005) | Alport Syndrome |
| Exon 46 | Missense | never used | c.4280G>C | p.Gly1427Ala | Pathogenic | Ma (2011) | Alport syndrome. |
| Exon 46 | Missense | 4482G>T | c.4280G>T | p.Gly1427Val | Pathogenic | Plant (1999) | Alport syndrome. Late onset ESRD (36 years) |
| Intron 46 | Splice Site | 4499+1G>A | c.4297+1G>A | p.? | Pathogenic | Wang (2005) | Affected Individual. del Exon 46 |
| Intron 46 | Splice Site | 4500-1G>C | c.4298-1G>C | p.? | Pathogenic | Barker (2001) | Alport Syndrome. Skipping of exon 47 |
| Exon 47 | Missense | never used | c.4298G>T | p.Gly1433Val | Pathogenic | Ma (2011) | Alport Syndrome. |
| Exon 47-51 | Large Deletion | never used | c.4298-?_5058+?del | p.? | Pathogenic | Nagel (2005) | Alport syndrome; Originally documented as IVS46_IVS51 (larger than 10 kb) |
| Exon 47 | Insertion | 4517_4552dup GGTCCCCCTGGTCC AGATGGATTGCAAGGT CCCCCA |
c.4315_4350dup | p.Gly1439_Pro1450dup | Pathogenic | Renieri (1996) | Alport syndrome. chain elongation; dup 12 amino acid from G1439 |
| Exon 47 | Missense | 4526G>C | c.4324G>C | p.Gly1442Arg | Pathogenic | King (2006) | Alport Syndrome |
| Exon 47 | Missense | never used | c.4325G>C | p.Gly1442Ala | Pathogenic | Hopker (2009) | Alport Syndrome. Associated with Atypical or mild phenotype. Mutation was originally reported as p.G1442A c. 4235G>C. Nucleotide position corrected to c. 4325G>C by the authors (erratum in Clin Nephrol 2010 73(2):172 |
| Exon 47 | Missense | 4527G>A | c.4325G>A | p.Gly1442Asp | Pathogenic | Plant (1999) | Alport syndrome |
| Exon 47 | Deletion | never used | c.4329_4355del | p.Asp1444_Pro1452del | Pathogenic | Tazon-Vega (2007) | Alport Syndrome. In frame deletion |
| Exon 47 | Missense | 4544G>A | c.4342G>A | p.Gly1448Ser | Pathogenic | Wang (2005) | Alport syndrome. Interrupts continuous Gly-X-Y |
| Exon 47 | Insertion | 4546_4547insT | c.4344dup | p.Pro1449fs | Pathogenic | Renieri (1996) | Alport syndrome. De novo insertion of T. truncated protein; 1449fs |
| Exon 47 | Deletion | never used | c.4349del | p.Pro1450fs | Pathogenic | Nagel (2005) | Alport syndrome; Originally documented as c.4345delC |
| Exon 47 | Missense | 4553G>A | c.4351G>A | p.Gly1451Ser | Pathogenic | Lemmink (1997) | Alport syndrome |
| Exon 47 | Deletion | 4638_4639delGA | c.4436_4437del | p.Gly1479fs | Pathogenic | Hertz (2001) | Alport Syndrome Protein truncation |
| Exon 47 | Deletion | 4639delA | c.4437del | p.Gly1479fs | Pathogenic | Plant (1999) | Alport syndrome. Originally documented as fs 1480 stop+68 |
| Exon 47 | Missense | never used | c.4439C>G | p.Thr1480Arg | Pathogenic | Ma (2011) | Alport syndrome. Late onser at ESRD (49 years) |
| Exon 47 | Missense | 4659G>C | c.4457G>C | p.Gly1486Ala | Pathogenic | Plant (1999) | Alport syndrome. Late onser at ESRD (49 years) |
| Exon 47 | Missense | 4665C>T | c.4463C>T | p.Ser1488Phe | Pathogenic | Knebelmann (1996) | Alport syndrome mutation in NC1 domain |
| Exon 47 | Deletion | 4693delAG | c.4491_4492del | p.Arg1497fs | Pathogenic | Inoue (1999) | Alport syndrome |
| Exon 47 | Missense | 4686C>A | c.4493C>A | p.Ala1498Asp | Pathogenic | Lemmink (1997) | Alport syndrome. Late onser at ESRD (37 years). Reported as 4686C>A (instead of 4695 or 4493 after removal of the 202 nt of the 5'UTR) |
| Exon 47 | Nonsense | never used | c.4501C>T | p.Gln1501X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| 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) | Alport syndrome |
| Intron 47 | Splice Site | 4712+1G>C | c.4510+1G>C | p.? | Pathogenic | Kawai (1996) | Alport Syndrome. Donor splice site |
| Exon 48 | Deletion | c.4715delA | c.4513del | p.Thr1505fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 48 | Indel | never used | c.4514_4529 delinsTTTCATCT |
p.Thr1505fs | Pathogenic | Nagel (2005) | Alport Syndrome. Truncated protein |
| Exon 48 | Missense | never used | c.4532G>A | p.Arg1511His | Uncertain | Cheong (2000) | Alport syndrome. Pathogenecity of mutation not established. (psoradic case). Also reported by Plant 1999. 0.002% in ExAc |
| Exon 48 | Missense | 4751C>A | c.4549C>A | p.Pro1517Thr | Uncertain | Renieri (1996) | Described in individuals with Alport Syndrome but has a frequency of 0.024% in ExAC comprisimg 9 hemizygotes. The Proline at 1517 is well conserved and computational programs predict the variant to be deleterious. |
| Exon 48 | Nonsense | 4765C>A | c.4563C>A | p.Cys1521X | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 48 | Missense | 4815G>C | c.4613G>C | p.Trp1538Ser | Pathogenic | Lemmink (1997) | Alport syndrome. Late onset at ESRD (33) |
| Exon 48 | Nonsense | 4816G>A | c.4614G>A | p.Trp1538X | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation |
| Exon 48 | Missense | 4877C>G | c.4675C>G | p.Pro1559Ala | Benign | Plant (1999) | Does not associate with disease. Reported as 4777C>G P1559A originaly. |
| Exon 48 | Deletion | c.4887_4890del4 | c.4685del4 | p.Ser1562fs | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 48 | Nonsense | 4889C>T | c.4687C>T | p.Arg1563X | Pathogenic | Knebelmann (1996) | Alport syndrome; Protein Truncation. De novo mutation |
| Exon 48 | Missense | 4890G>A | c.4688G>A | p.Arg1563Gln | Pathogenic | Gross (2002) | Alport Syndrome. Classified as unknown by Plant 1999. Weakened splice site (5 prime) exon 48 skipped creating frameshift. Described as late onset in Pont-Kingdon et al 2009. |
| Intron 48 | Indel | c.4891-30del22insCA | c.4689-30_4689-9 delinsCA |
p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome. Originally reported as c.4892-30 instead of 4891-30 |
| Exon 49 | Splice Site | 4891-3del32 | c.4689-3_4717del | p.? | Pathogenic | Kawai (1996) | Alport Syndrome donor splice site |
| Exon 49-51 | Large Deletion | never used | c.4689-?_5058+?del | p.? | Pathogenic | Lemmink (1997) | Alport syndrome. del 10kb truncated protein |
| Exon 49 | Missense | never used | c.4690T>C | p.Cys1564Arg | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 33 |
| Exon 49 | Missense | 4893G>C | c.4691G>C | p.Cys1564Ser | Pathogenic | Zhou (1991) | Late onset Alport syndrome. Observed in one large kindred in the US. Could account for 40% adult type AS. |
| Exon 49 | Missense | 4901T>C | c.4699T>C | p.Cys1567Arg | Pathogenic | Knebelmann (1996) | Alport syndrome. NC1 domain. De novo mutation |
| Exon 49 | Missense | never used | c.4702G>A | p.Glu1568Gln | Pathogenic | Tan (2010) | Alport syndrome |
| Exon 49 | Deletion | 4952_4958del7 | c.4750_4756del | p.Pro1584fs | Pathogenic | Plant (1999) | Alport syndrome. Originally documented as fs stop+15. late onset ESRD at 38 |
| Exon 49 | Missense | never used | c.4751C>T | p.Pro1584Leu | Pathogenic | Pont-Kingdon (2009) | Alport syndrome. Late onset Age at ESRD 34.5 |
| Exon 49 | Missense | 4958T>C | c.4756T>C | p.Cys1586Arg | Pathogenic | Hertz (2001) | Alport Syndrome |
| Exon 49 | Missense | 4959G>T | c.4757G>T | p.Cys1586Phe | Pathogenic | Wang (2005) | Affected Individual |
| Exon 49 | Missense | 4970T>G | c.4768T>G | p.Trp1590Gly | Pathogenic | King (2006) | Alport Syndrome |
| Exon 49 | Deletion | never used | c.4780_4781del | p.Trp1594fs | Pathogenic | Ma (2011) | Alport Syndrome |
| Exon 49 | Missense | 4989G>A | c.4787G>A | p.Gly1596Asp | Pathogenic | Renieri (1996) | Alport syndrome. Conserved aa of NC |
| Exon 49 | Missense | 4968G>T | c.4766G>T | p.Gly1589Val | Pathogenic | King (2006) | Alport Syndrome. This mutation was labeled as a cryptic splice site activator. |
| Exon 49 | Missense | 4992A>G | c.4790A>G | p.Tyr1597Cys | Pathogenic | Gross (2002) | Alport syndrome . Late onset. Age at ESRD 31 |
| Exon 49 | Nonsense | 4993T>A | c.4791T>A | p.Tyr1597X | Pathogenic | Martin (1998) | Alport syndrome . Truncated protein |
| Exon 49 | Missense | 5005G>A | c.4803G>A | p.Met1601Ile | Pathogenic | Plant (1999) | Alport syndrome. Skips E49 resulting in frameshift |
| Intron 49 | Splice Site | 5005+1ins10 | c.4803+1ins10 | p.? | Pathogenic | Lemmink (1997) | Alport Syndrome |
| Intron 49 | Splice Site | 5005+1G>A | c.4803+1G>A | p.? | Pathogenic | Knebelmann (1996) | Alport Syndrome. Late onset. Mean age at ESRD: 40 |
| Intron 49 | Splice Site | 5005+121T>C | c.4803+121T>C | p.? | Pathogenic | Shimizu (2006) | Alport syndrome. cDNA and protein analysis. Found in same patient as c.4804-151_150insT. Creates retention of intron 49 causing in frame stop codon. Originally described as c4821+121T>C using a cDNA sequence with 18 additional nt (NM_033380) |
| Intron 49 | Splice Site | 5006-151_150insT | c.4804-151_4804-150insT | p.? | Pathogenic | Shimizu (2006) | Alport syndrome. cDNA and protein analysis. Found in same patient as c.4803+121T>C. Creates retention of intron 49 causing in frame stop codon Originally described as c.4822-151_150insT using a cDNA sequence with 18 additional nt (NM_033380) |
| Exon 50 | Deletion | 5034delG | c.4832del | p.Gly1611fs | Pathogenic | Renieri (1996) | Alport syndrome. truncated protein;1611fs. Initially reported as 5033delG |
| Exon 50 | Missense | never used | c.4894T>G | p.Cys1632Gly | Pathogenic | Bekheirnia (2010) | Alport syndrome. Reported as Cys1632Ser |
| Exon 50 | Missense | 5115G>A | c.4913G>A | p.Cys1638Tyr | Pathogenic | Wilson (2007) | Late onset Alport syndrome. No extra renal manifestation |
| Exon 50 | Insertion | never used | c.4942dup | p.Trp1648fs | Pathogenic | Ma (2011) | Alport syndrome |
| Exon 50 | Missense | 5148T>G | c.4946T>G | p.Leu1649Arg | Pathogenic | Barker (1996) | Adult onset AS 22 kindred in the in the US. 50% adult onset Alport Symdrome in the US. 0.001% in ExAc |
| Exon 50 | Deletion | 5170 delC | c.4968del | p.Asp1656fs | Pathogenic | Inoue (1999) | Alport Syndrome. |
| Exon 50 | Missense | 5178G>A | c.4976G>A | p.Ser1659Asn | Pathogenic | Knebelmann (1996) | Alport Syndrome. Possible effect on intron 50 splicing |
| Intron 50 | Splice Site | c.5179-2A>G | c.4977-2A>G | p.? | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 51 | Deletion | 5196_5203del8 | c.4994_5001del | p.Thr1665fs | Pathogenic | Plant (1999) | Protein truncation; Originally Documented as fs 1665 stop+9 |
| Exon 51 | Nonsense | never used | c.5020C>T | p.Arg1674X | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 51 | Nonsense | 5231C>T | c.5029C>T | p.Arg1677X | Pathogenic | Martin (1998) | Alport syndrome. Truncated protein. Found in several unrelated patients |
| Exon 51 | Missense | 5232G>A | c.5030G>A | p.Arg1677Gln | Pathogenic | Barker (1997) | Adult onset AS found in 3 Ashkenazi Jewish famillies 5% adult onset Alport Symdrome in the US. 0.002 in ExAc |
| Exon 51 | Missense | 5232G>C | c.5030G>C | p.Arg1677Pro | Pathogenic | Barker (2001) | Alport syndrome. Reported as late onset (ESRD at 37.5 years) in Pont-Kingdon et al 2009. |
| Exon 51 | Missense | never used | c.5030G>T | p.Arg1677Leu | Pathogenic | Ma (2011) | Alport Syndrome |
| Exon 51 | Missense | 5234T>C | c.5032T>C | p.Cys1678Arg | Pathogenic | Gross (2002) | Alport Syndrome |
| Exon 51 | Deletion | 5236delT | c.5034del | p.Gln1679fs | Pathogenic | Martin (2000) | Alport syndrome. Truncated protein |
| Exon 51 | Missense | 5236T>G | c.5034T>G | p.Cys1678Trp | Pathogenic | Inoue (1999) | Alport Syndrome |
| Exon 51 | Missense | 5244G>T | c.5042G>T | p.Cys1681Phe | Pathogenic | Wang (2005) | Affected Individual |
| 3'UTR | Insertion | c.5309_5310insA | c.5058+48*dup | p.? | Uncertain | Bekheirnia (2010) | Affected individual. Variant of uncertain significance |
| Exon 04 | Missense | never used | c.262C>T | p.Pro88Ser | Uncertain | Wang (2012) | Alport syndrome. 0.123% in East Asian (ExAc data base) |
| Exon 06 | Missense | never used | c.367G>A | p.Gly123Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 12 | Missense | never used | c.647G>A | p.Gly216Glu | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 13 | Missense | never used | c.715G>A | p.Gly239Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 17 | Missense | never used | c.965G>A | p.Gly322Asp | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 23 | Missense | never used | c.1579G>A | p.Gly527Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 25 | Missense | never used | c.1843G>C | p.Gly615Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 25 | Missense | never used | c.1913G>A | p.Gly638Asp | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 25 | Missense | never used | c.1948G>A | p.Gly650Ser | Pathogenic | Wang (2012) | Last nt of Exon 25. Splicing might be affected |
| Exon 27 | Missense | never used | c.2095G>A | p.Gly699Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 28 | Missense | never used | c.2156G>T | p.Gly719Val | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 28 | Missense | never used | c.2215C>G | p.Pro739Ala | Uncertain | Wang (2012) | rs104886164- frequency of 0.5% (1000 Genome) predicted tolerated by polyphen (0.11) and begign (0.338) by PolyPhen2. 0.28% in ExAc |
| Exon 32 | Missense | never used | c.2705G>A | p.Gly902Glu | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 32 | Missense | never used | c.2714G>A | p.Gly905Asp | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 39 | Missense | never used | c.3526G>A | p.Gly1176Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 41 | Missense | never used | c.3650G>A | p.Gly1217Asp | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 41 | Missense | never used | c.3668G>A | p.Gly1223Asp | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 41 | Missense | never used | c.3685G>A | p.Gly1229Ser | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 44 | Missense | never used | c.4024G>A | p.Gly1342Arg | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 47 | Missense | never used | c.4427G>T | p.Cys1476Phe | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 49 | Missense | never used | c.4700G>C | p.CYs1567Ser | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 50 | Missense | never used | c.4862T>C | p.Leu1621Ser | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 51 | Missense | never used | c.5036A>C | p.Gln1679Pro | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 29 | Missense (or splice site) | never used | c.2387G>T | p.Gly796Val (or p.?) | Pathogenic | Wang (2012) | Position -9 inside exon 29. Deletion of exon 29 sequences observed in mRNA (r.2245_2395del) in skin biopsy |
| Exon 06 | Splice Site | never used | c.384G>A | p.Gly108-Lys128del | Pathogenic | Wang (2012) | Mutation of donor splice site. Deletion of exon 6 observed on cDNA in skin biopsy |
| Exon 29 | Missense (or splice site) | never used | c.2306G>T | p.Gly769Val (or p.?) | Pathogenic | Wang (2012) | At position + 61 nt in exon 29. In cDNA from skin biopsy deletion of exon 29 and insertion of intron 30 sequences 3' of exon 30. |
| Exon 31 | Missense (or splice site) | never used | c.2677G>A | p.Gly893Ser (or p.?) | Pathogenic | Wang (2012) | Mutation of donor splice site. Deletion of 18 nt in exon 31 (r.2660_2677del) observed in cDNA from skin biopsy. |
| Exon 45 | Splice site | never used | c.4198_4198+1del | p.? | Pathogenic | Wang (2012) | Deletion donor site Exon 45/Intron 45. In skin biopsy cDNA analysis shows 4198_4198+1del and insertion 71 nt of intron 45 |
| intron 04 | Splice site | never used | c.276+5G>T | p.Gly78_Arg92 del | Pathogenic | Wang (2012) | deletion exon 4 sequence observed on cDNA in skin biopsy |
| Intron 12 | Splice site | never used | c.687+2T>C | p.Gly216_Lys229del | Pathogenic | Wang (2012) | In skin biopsy deletion exon 12 sequence observed on cDNA |
| Intron 14 | Splice site | never used | c.834+5G>A | p.Gly261_Pro278del | Pathogenic | Wang (2012) | Deletion exon 14 sequences observed on cDNA in skin biopsy |
| Intron 19 | Splice site | never used | c.1166-1G>A | p.Ala390fs | Pathogenic | Wang (2012) | In skin biopsy deletion of G at position 1166 in c.DNA. |
| Intron 24 | Splice Site | never used | c.1779+1G>A | p.? | Pathogenic | Wang (2012) | In skin biopsy no data on mRNA changes |
| Intron 25 | Splice Site | never used | c.1949-2A>G | p.Lys664_Gly669del | Pathogenic | Wang (2012) | cDNA analysis shows an in frame deletion of 18 nt in exon 26 (r.1990_2007 del) in skin biopsy. The predicted protein has a deletion of 6 amino acids |
| Intron 47 | Splice Site | never used | c.4511-345A>G | p.Gly1504fs | Pathogenic | Wang (2012) | An insertion at c.4510 was observed in cDNA sequences from skin biopsy.Originaly named g.4712+4709A>G. Reported as c.4510+4709 (HGMD) |
| Intron 48 | Splice Site | never used | c.4688+4A>T | p.Gly1504fs | Pathogenic | Wang (2012) | cDNA from In skin biopsy shows deletion of exon 48 resulting in frameshifting at Gly 1504 |
| Exon 02 | Nonsense | never used | c.107C>G | p.Ser36X | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 09 | Nonsense | never used | c.544C>T | p.Gln182X | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 31 | Nonsense | never used | c.2632G>T | p.Gly878X | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 49 | Nonsense | never used | c.4782G>A | p.Trp1594X | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 15 | Deletion | never used | c.863del | p.Lys288fs | Pathogenic | Wang (2012) | Originaly reported as r.862 or 863dela |
| Exon 22 | Insertion | never used | c.1442dup | p.Cys481fs | Pathogenic | Wang (2012) | Originaly reported as r.1441_1443insG reported as c.1440_1441insG (HGMD) |
| Exon 26 | Deletion | never used | c.1992_2009del | p.Lys664_Gly669del | Pathogenic | Wang (2012) | Alport syndrome |
| Exon 41 | Deletion | never used | c.3746del | p.GLy1249fs | Pathogenic | Wang (2012) | Originaly reported as 3745_3746delg |
| Exon 45 | Deletion | never used | c.4184del | p.Pro1395fs | Pathogenic | Wang (2012) | Originaly reported as 4183delc |
| Exon 47 | Insertion | never used | c.4401_4402dup | p.Ser1468fs | Pathogenic | Wang (2012) | Originaly reported as 4398_4399insCA |
| Exon 49 | Deletion | never used | c.4695del | p.Val1566fs | Pathogenic | Wang (2012) | Alport Syndrome |
| Exon 06 | Indel | never used | c.359_363delinsATAC | p.Gly120fs | Pathogenic | Wang (2013) | Mutation presente in a familly with only renal disease |
| Exon 06 | Missense | never used | c.368G>A | p.Gly123Glu | Pathogenic | Guo (2014) | Alport Syndrome. Average age ESRD >30. No ocular or hearing abnormalities in patients. Gly123 occurs prior to Gly-X-Y repeats |
| Exon 45 | Missense | never used | c.4078G>C | p.Gly1360Arg | Pathogenic | personal communication | Alport syndrome. Familly history. Hematuria proteinurea and hearing loss |
| Exon 01 | Missense | never used | c.2T>A | p.? | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 03 | Missense | never used | c.152G>T | p.Gly51Val | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 07 | Missense | never used | c.412G>A | p.Gly138Ser | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 13 | Missense | never used | c.698G>T | p.Gly233Val | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 14 | Insertion | never used | c.801dup | p.Pro268fs | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 19 | Missense | never used | c.1075G>A | p.Gly359Arg | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 23 | Missense | never used | c.1526G>A | p.Gly509Asp | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 25 | Missense | never used | c.1862G>T | p.Gly621Val | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 27 | Missense | never used | c.2077G>A | p.Gly693Arg | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 28 | Missense | never used | c.2237G>A | p.Gly746Glu | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 30 | Missense | never used | c.2482G>A | p.Gly828Arg | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 31 | Missense | never used | c.2546G>A | p.Gly849Glu | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 33 | Deletion | never used | c.2831del | p.Gly944fs | Pathogenic | Fallerini (2014) | Alport syndrome |
| Intron 36 | Splice Site | never used | c.3246+1G>A | p.? | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 41 | Missense | never used | c.3721G>C | p.Gly1241Arg | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 49 | Insertion | never used | c.4749dup | p.Pro1584fs | Pathogenic | Fallerini (2014) | Alport syndrome |
| Intron 49 | Splice Site | never used | c.4804-2A>C | p.? | Pathogenic | Fallerini (2014) | Alport syndrome |
| Exon 50 | Missense | never used | c.4896T>G | p.Cys1632Trp | Likely Pathogenic | Fallerini (2014) | Alport syndrome |
| Intron 50 | Splice site | never used | c.4976+3A>G | p.? | Uncertain | Fallerini (2014) | Alport syndrome. Observed in Alport Patient. A and G are equally found in position +3 and slpice site prediction failed to predict effect on splicing (note added by database currator) |
| Intron 06 | Splice Site | never used | c.384+1G>A | p.? | Pathogenic | Mohammad (2014) | Alport Syndrome. Found in female compound heterozygous with c 2677G>C. Might be adult onset. |
| Exon 31 | Missense | never used | c.2677G>C | p.Gly893Arg | Pathogenic | Mohammad (2014) | Alport Syndrome. Found in female compound heterozygous with c.384+1G>A. Might be adult onset. |
| Intron 29 | Slpice site | never used | c.2396-1G>A | p.? | Pathogenic | Beicht (2013) | Alport syndrome. Found in female mosaic |
| Exon 08 | Missense | never used | c.458G>A | p.Gly153Asp | Pathogenic | Bekheirnia (2010) | Alport syndrome |
| Exon 18 | Missense | never used | c.1009G>A | p.Gly337Ser | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 25 | Missense | never used | c.1844G>A | p.Gly615Glu | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 47 | Missense | never used | c.4342G>C | p.Gly1448Arg | Pathogenic | Nabai Sa (2014) | Alport syndrome- in 2 famillies |
| Exon 33 | Nonsense | never used | c.2815G>T | p.Glu939X | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Intron 20 | Splice site | never used | c.1339+6C>G | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 10 | Deletion | never used | c.590delC | p.Pro197fs | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 30 | Deletion | never used | c.2423del | p.Gly808fs | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Intron 30 | Splice site | never used | c.2510-1_2525del | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 01-13 | Large Deletion | never used | c.1-?_780+?del | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 02-29 | Large Deletion | never used | c.82-?_2325+?del | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 02-51 | Large Deletion | never used | c.82-?_5058+?del | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 31 | Large Deletion | never used | c.2510-1_2554del | p.His839_Leu853del | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 43-45 | Large Deletion | never used | c.3925-?_4198+?del | p.? | Pathogenic | Nabai Sa (2014) | Alport syndrome |
| Exon 01-02 | Large Deletion | never used | c.1-?_141+?del | p.? | Pathogenic | Moriniere (2014) | Alport syndrome. Deletion extends to COL4A6 |
| Exon 20 | Missense | 1491C>A | c.1289C>A | p.Ala430Asp | Benign | Knebelmann (1996) | Non-conserved amino acid 0.7% in EA in ESP (with 13 hemizygous). 0.4% in ExAc. |
| Exon 02-22 | Large Deletion | never used | c.82-?_1516+?del | p.? | Pathogenic | Moriniere (2014) | Alport syndrome |
| Exon 25 | Missense | 2057C>T | c.1855C>T | p.Pro619Ser | Likely Benign | Knebelmann (1996) | Non-conserved amino acid |
| Exon 05 | Insertion | never used | c.321+1_321+2dup | p.? | Pathogenic | Moriniere (2014) | Alport syndrome. Originally published as c.321_321+1dup (p.G108Wfs). The mutation is predicted to displace the donor slicing site by 2 nucleotides creating a frameshift. |
| Exon 17 | Missense | never used | c.947G>A | p.Gly316Asp | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 46 | Missense | 4484C>A | c.4282C>A | p.Leu1428Met | Likely Benign | Knebelmann (1996) | Non-conserved amino acid. Originaly published as 4483C>A |
| Exon 25 | Missense | never used | c.1826G>A | p.Gly609Asp | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 25 | Deletion | never used | c.1846_1854del | p.Asn616_Gly618del | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 25 | Missense | never used | c.1894G>C | p.Gly632Arg | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 25 | Missense | never used | c.1931G>A | p.Gly644Asp | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 29 | Nonsense | never used | c.2264T>G | p.Leu755X | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 31 | Deletion | never used | c.2589_2660del | p.Ser864_Gly887del | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 32 | Indel | never used | c.2765_2766inv | p.Lys922Ile | Pathogenic | Moriniere (2014) | Alport Syndrome- reported as delinsTT |
| Intron 33 | Splice site | never used | c.2918-1G>A | p.? | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 34 | Missense | never used | c.2918G>A | p.Gly973Asp | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 35 | Missense | never used | c.3071G>A | p.Gly1024Glu | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 36 | Nonsense | never used | c.3154C>T | p.Gln1052X | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 41 | Missense | never used | c.3685G>T | p.Gly1229Cys | Pathogenic | Moriniere (2014) | Alport Syndrome |
| Exon 42 | Deletion | never used | c.3899del | p.Gly1300fs | Pathogenic | Moriniere (2014) | Alport syndrome- originally published using exon 44 (NM_033380) |
| Exon 43-45 | Large Deletion | never used | c.3925-?_4198+?del | p.? | Pathogenic | Moriniere (2014) | Alport syndrome- originally published in exon 45-47 (NM_033380) |
| Exon 44 | Missense | never used | c.4054C>A | p.Leu1352Ile | Uncertain | Moriniere (2014) | Alport syndrome- originally published in exon 46 (NM_033380) 0.04% in EA in ESP with 2 hemizogous. 0.017% in ExAc |
| Exon 47 | Missense | never used | c.4352G>A | p.Gly1451Asp | Pathogenic | Moriniere (2014) | Alport syndrome- originally published in exon 49 (NM_033380) |
| Exon 51 | Missense | never used | c.5051G>A | p.Cys1684Tyr | Pathogenic | Moriniere (2014) | Alport syndrome- originally published in exon 53 (NM_033380) |
| Intron 18 | Splice site | never used | c.1033-6A>G | p.? | Likely Pathogenic | Kovacs (2016) | Alport syndrome |
| Intron 29 | Splice site | never used | c.2395+1G>A | p.? | Pathogenic | Kovacs (2016) | Alport syndrome |
| Exon 32 | Missense | never used | c.2741G>A | p.Gly914Asp | Pathogenic | Kovacs (2016) | Alport syndrome |
| Exon 02 | Missense | never used | c.82G>T | p.Ala28Ser | Pathogenic | Kovacs (2016) | Alport syndrome. Can also affect splice site |
| Exon 18 | Missense | never used | c.1010G>T | p.Gly337Val | Pathogenic | Kovacs (2016) | Alport syndrome |
| Exon 01-02 | Large Deletion | never used | c.1-?_3246+?del | p.? | Pathogenic | Liu (2015) | 40 Kb deletion including exon1 of COL4A6 and Exons 1 and 2 of COL4A5. ChrX.hg19:g.107645023_107685353del |
| Exon 25 | Missense | never used | c.1922G>A | p.Gly641Glu | Pathogenic | Baikara (2015) | Alport syndrome |
| Exon 22 | Missense | never used | c.1499G>T | p.Gly500Val | Uncertain | Fernadez-Rosado (2015) | Alport syndrome- classified as VUS in a 16 year old female patient |
| Intron 09 | Splice Site | never used | c.547-3C>A | p.? | Pathogenic | Chen (2016) | Alport syndrome. Splicing defect demonstrated on cDNA: skipping of exon10 causing in frame deletion of 21 amino acids |
| Exon 15 | Splice site | never used | c.876A>T | p.Gly292Gly | Pathogenic | Fu (2015) | Alport Syndrome. Synonymous mutation. Affects splicing factor binding site. Results in partial deletion of exon15 |
| Intron 01 | Splice site | never used | c.81+4A>C | p.? | Likely Pathogenic | Weber (2016) | Alport Syndrome- Most probably affects splicing (Human splicing finder) |
| Exon 10 | Duplication | never used | c.560_561dup | p.Thr188fs | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 12 | Missense | never used | c.680G>A | p.Gly227Asp | Pathogenic | Weber (2016) | TBMN in female patient. Father has AS |
| Intron 15 | Splice site | never used | c.891+9T>G | p.? | Likely Benign | Weber (2016) | Alport Syndrome. Not predicted to affect splicing |
| Intron 16 | Splice site | never used | c.936+1G>A | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 17 | Missense | never used | c.965G>T | p.Gly322Val | Pathogenic | Weber (2016) | Alport Syndrome (TBMN in 12 year old patient AS in mother) |
| Exon 19 | Insertion | never used | c.1073_1074insC | p.Lys358fs | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 19 | Missense | never used | c.1165G>A | p.Gly389Arg | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 20 | Deletion | never used | c.1246_1269del | p.Ile416_Gly423del | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 25 | Missense | never used | c.1799G>A | p.Gly600Asp | Pathogenic | Weber (2016) | Alport Syndrome in family- Patient is 4. |
| Intron 25 | Splice site | never used | c.1949-2A>T | p.? | Pathogenic | Weber (2016) | Alport Syndrome in family-TBMN in 2 years old Patient |
| Exon 27 | Splice site | never used | c.2145A>G | p.Lys715Lys | Uncertain | Weber (2016) | TBMN in 2 years old patient. Alport Syndrome in family. Second to last nt of Exon 27. Might affect splicing. Not found in ExAc or ESP data bases |
| Intron 28 | Splice site | never used | c.2245-14T>A | p.? | Uncertain | Weber (2016) | Alport Syndrome. Most probably affects splicing by crating a new donor site (Human splicing finder) |
| Exon 29 | Missense | never used | c.2297G>T | p.Gly766Val | Pathogenic | Weber (2016) | Alport Syndrome. Found also by HaeII (LOVD) |
| Intron 33 | Splice site | never used | c.2918-1G>C | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 34 | Deletion | never used | c.2976_2982del | p.Gln992fs | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 36 | Deletion | never used | c.3227del | p.Pro1076fs | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 39 | Missense | never used | c.3545G>T | p.Gly1182Val | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 44 | Missense | never used | c.4060G>T | p.Gly1354Cys | Pathogenic | Weber (2016) | Alport Syndrome |
| Intron 47 | Splice Site | never used | c.4510+1G>T | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Intron 48 | Splice Site | never used | c.4688+1G>A | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 49 | Missense | never used | c.4787G>T | p.Gly1596Val | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 49 | Missense | never used | c.4793C>T | p.Ser1598Phe | Pathogenic | Weber (2016) | Alport Syndrome. Found also by Montaganel (LOVD) |
| Exon 50 | Missense | never used | c.4895G>A | p.Cys1632Tyr | Pathogenic | Weber (2016) | Alport Syndrome. Found also by Montaganel (LOVD) |
| Exon 50 | Missense | never used | c.4913G>C | p.Cys1638Ser | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 50 | Missense | never used | c.4931C>G | p.Ser1644Cys | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 51 | Missense | never used | c.5041T>G | p.Cys1681Gly | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 35-36 | Large Duplication | never used | c.3017-?_3246+?del | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 42-45 | Large Duplication | never used | c.3791-?_4198+?del | p.? | Pathogenic | Weber (2016) | Alport Syndrome |
| Exon 18 | Missense | never used | c.1000G>A | p.Gly334Ser | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 29 | Missense | never used | c.2288G>T | p.Gly763Val | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 47 | Missense | never used | c.4457G>A | p.Gly1486Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 25 | Missense | never used | c.1781G>A | p.Gly594Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 36 | Missense | never used | c.3206G>A | p.Gly1069Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 35 | Missense | never used | c.3053G>A | p.Gly1018Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 15 | Nonsense | never used | c.871C>T | p.Gln291X | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 24 | Insertion | never used | c.1652_1653 insTC | p.Thr552fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 49 | Insertion | never used | c.4736_4737insT | p.Gln1579fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 50 | Duplication | never used | c.4819dup | p.Ala1607fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4818-4819insG |
| Exon 38 | Insertion | never used | c.3450_3451insAC | p.Val1151fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 33 | Insertion | never used | c.2903_2904insG | p.Pro969fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 6 | Insertion | never used | c.331_332 insCA | p.Gly111fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 21 | Insertion | never used | c.1411_1414 dup | p.Gly472fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.1411_1415dupCAAG |
| Exon 48 | Deletion | never used | c.4565 del | p.Asn1522fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 49 | Deletion | never used | c.4725 del | p.Val1576fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Exon 31 | Deletion | never used | c.2589 del | p.Ser864fs | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. |
| Intron11 | Splice Site | never used | c.610-2A>T | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Skipping of exon 11 ( cDNA) |
| Intron 25 | Splice Site | never used | c.1948+894C>G | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Cryptic exon in Intron 25- new splicing acceptor site- addition of 106nt (cDNA) |
| Inton 50 | Splice Site | never used | c.4976+2T>C | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Skipping of exon 50( cDNA) |
| Intron 10 | Splice Site | never used | c.609+875G>T | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. New splicing donor site- addition of 123 nt (cDNA) |
| Exon 12 | Missense | never used | c.679G>A | p.Gly227Ser | Pathogenic | Hashimura (2014) | Alport Syndrome. Normal expression of a5(IV) protein |
| Exon 16 | Missense | never used | c.893G>A | p.Gly298Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Reduced expression of a5(IV) protein |
| Exon 25 | Missense | never used | c.1781G>A | p.Gly594Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Normal expression of a5(IV) protein |
| Exon 16 | Missense | never used | c.929G>A | p.Gly310Glu | Pathogenic | Hashimura (2014) | Alport Syndrome. Reduced expression of a5(IV) protein |
| Exon 38 | Missense | never used | c.3410G>A | p.Gly1137Asp | Pathogenic | Hashimura (2014) | Alport Syndrome. Reduced expression of a5(IV) protein |
| Exon 21 | Deletion | never used | c.1347_1355del | p.Ile450_Glu452del | Pathogenic | Hashimura (2014) | Alport Syndrome. Normal expression of a5(IV) protein. In frame deletion |
| Exon 19 | Deletion | never used | c.1078_1113 del | p.Asn360_Gly371del | Pathogenic | Hashimura (2014) | Alport Syndrome. Normal expression of a5(IV) protein. In frame deletion. Published as c.1066_1101del |
| Intron 41 | Splice Site | never used | c.3791-2A>T | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome- somatic mosaic- skipping of exon 42 reported as c.3809-2A>T in NM_033380 |
| Exon 49 | Nonsense | never used | c.4701T>A | p.Cys1567X | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4945T>A |
| Intron 17 | Splice Site | never used | c.991-1G>A | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.990-1G>A |
| Intron 47 | Splice Site | never used | c.4511-345A>G | p.? | Pathogenic | Hashimura (2014) | Alport Syndrome. Negative staining for a5(IV) protein. Reported as c.4529-3445. Creates a cryptic exon in Intron 47 (cDNA data) |
| Intron 24 | Splice Site | never used | c.1780-1G>T | p.? | Pathogenic | Kovacs (2016) | Alport Syndrome. Acceptor splice disruption. |
| Exon 32 | Missense | never used | c.2767G>C | p.Gly923Arg | Pathogenic | Abe (2016) | Alport Syndrome. Could also affect splicing. |
| Intron 24 | Splice site | never used | c.1780-6T>G | p.? | Pathogenic | Malone (2016) | Alport Syndrome. Creates skipping of exon 25- RNA study |
| Intron 13 | Splice site | never used | c.780+5G>A | p.? | Pathogenic | Fallerini (2017) | Alport Syndrome. Found in combination with a mutation in Col4A3. Effect on exon 13 skipping tested using a minigen assay. |
| Intron 28 | Splice site | never used | c.2245-40A>G | p.? | Pathogenic | Chiereghin (2017) | Alport Syndrome. Causes skipping of exon 29. Skewed X inactivation correlates with disease severity |
| Exon 33 | Missense | never used | c.2822G>A | p.Gly941Asp | Pathogenic | Chiereghin (2017) | Alport Syndrome. |
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