Unique variants in the COL4A5 gene

Originally variants in the COL4A5 gene were described based on a 53-exon gene. Variants in the database are based on a 55-exon gene, containing two additional exons (42 and 43), both containing 9 nucleotides. We do not exclude that some variant descriptions were not yet corrected
Information The variants shown are described using the NM_033380.2 transcript reference sequence.

1622 entries on 17 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 2 1i c.81+22538A>B r.(?) p.(=) - benign g.107705974A>B - IVS1+22538 - COL4A5_000848 - 1000 genomes - - Germline - - - - - Judy Savige
+/. 1 _1_36i c.-121660_3246+6706del r.0? p.0 - pathogenic g.107561696_107876285del g.108318466_108633055del 66+119476(COL4A6)_3246+6706(COL4A5)del - COL4A5_001425 - PubMed: Nozu 2017, Journal: Nozu 2017 - - Germline - - - - - Judy Savige
+/. 1 _1_4i c.-87860_277-1446del r.0? p.0? - pathogenic g.107595501_107810418del g.108352271_108567188del 66+85676(COL4A6)_276+3257(COL4A5)del - COL4A5_001427 - PubMed: Nozu 2017, Journal: Nozu 2017 - - Germline - - - - - Judy Savige
+/. 1 _1_36i c.-86239_3246+6915del r.0? p.0 - pathogenic g.107597117_107876494del g.108353887_108633264del 66+84055(COL4A6)_3246+6915(COL4A5)del - COL4A5_001426 - PubMed: Nozu 2017, Journal: Nozu 2017 - - Germline - - - - - Judy Savige
+/., ?/. 3 _1i, _1_1i c.-38333_81+1917del r.0? p.0? - pathogenic, VUS g.107645024_107685354del g.108401794_108442124del 40 kb del ex1-2 COL4A6/ex1 COL4A5, ChrX.hG19:G.107,645,023_107,685,353del - COL4A5_001344 - PubMed: Liu 2015, Journal: Liu 2015 - - Germline, Unknown - - - - - Judy Savige, Kwong Leong Wong
+/. 1 _1_1i c.-27291_81+18040del r.0? p.0? - pathogenic g.107656065_107701476del g.108412835_108458246del 66+25107(COL4A6)_81+18040(COL4A5)del - COL4A5_001429 - PubMed: Nozu 2017, Journal: Nozu 2017 - - Germline - - - - - Judy Savige
+/. 1 _1_1i c.-8024_81+8068del r.0? p.0? - pathogenic g.107675332_107691504del g.108432102_108448274del 66+5840(COL4A6)_81+8068(COL4A5)del - COL4A5_001428 - PubMed: Nozu 2017, Journal: Nozu 2017 - - Germline - - - - - Judy Savige
-?/. 1 - c.-2145G>C r.(?) p.(=) - likely benign g.107681211G>C - COL4A6(NM_001287758.1):c.24C>G (p.L8=) - COL4A6_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 _1 c.-1964G>C r.= p.= - VUS g.107681392G>C g.108438162G>C - - COL4A5_000819 - NCBI - - Germline - - - - - Judy Savige
?/. 1 - c.-16C>T r.(?) p.(=) - VUS g.107683340C>T g.108440110C>T - - COL4A6_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.-13G>A r.(?) p.(=) - VUS g.107683343G>A g.108440113G>A 190G>A - COL4A5_000085 - PubMed: Hertz 2001 - - Germline - - - - - Judy Savige
+/+, +/. 14 _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del, g.(107554059_107681171)_(107683437_107782975)del, 1 more item - COL4A6 E2 to COL4A5 E1del, COL4A6 E3 to COL4A5 E1del, COL4A6 IVS2 to COL4A5 IVS1del, ex1 del, Ex1del, 1 more item - COL4A5_000374, COL4A5_000375, COL4A5_000985 120kb deletion Heidet, Matonagel, PubMed: Antignac 1992, PubMed: Hashimura 2014, PubMed: Mothes 2002, 6 more items - - Germline, Germline/De novo (untested) ? - - - - Judy Savige
+/+, +/. 3 _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107783036_107802293)del, g.(?_107400229)_(107783036_107802293), 1 more item - 1-?_141+?del, COL4A6 E2 to COL4A5 E2del, Ex1_2del - COL4A5_000000, COL4A5_000978, COL4A5_000982 COL4A5 del ex1-2, COL4A6 del all ex Matonagel, PubMed: Moriniere 2014, Journal: Moriniere 2014, PubMed: Zhang 2012 - - Germline - - - - - Judy Savige
+/. 1 _1_6i c.(?_-1)_(384+1_385-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107812052_107814642)del - E1_E6del - COL4A5_000379 - PubMed: Vetrie 1992 - - Germline - - - - - Judy Savige
+/+ 1 _1_7i c.(?_-1)_(438+1_439-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107814697_107815040)del - Ex1_7del - COL4A5_000984 - Matonagel - - Germline - - - - - Judy Savige
+/. 1 _1_13i c.(?_-1)_(780+1_781-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107821614_107823762)del - COL4A6 E3 to COL4A5 E13del - COL4A5_001365 - PubMed: Sa 2013 - - Germline - - - - - Maria João Nabais Sá
+/. 1 _1_30i c.(?_-1)_(2509+1_2510-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107858255_107863488)del - E1_E30del - COL4A5_000380 - PubMed: Plant 1999 - - Germline - - - - - Judy Savige
+/. 1 _1_36i c.(?_-1)_(3246+1_3247-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107869580_107898560)del - COL4A6 E2 to COL4A5 E36del - COL4A5_001364 - PubMed: Uliana 2011 - - Germline - - - - - Judy Savige
+/. 1 _1_37i c.(?_-1)_(3373+1_3374-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107898688_107908736)del - - - COL4A5_001412 - - - - De novo yes - - - - Pavlina Plevova
+/+, +/. 5 _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(107100000_107250000)_(110555965_110574146)del, g.(107230000_107280000)_(108790000_108880000)del, 2 more items - COL4A5/A6 deletion, COL4A6 E2 to COL4A5 E53del, E1_E51del, Ex1_53del - COL4A5_000000, COL4A5_000381, COL4A5_000975 1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes, 1 more item Matonagel, PubMed: Barker 2001, PubMed: Hoischen 2009, PubMed: Nozu 2008, PubMed: Nozu 2009, 1 more item - - De novo, Germline - - - - - Judy Savige
+/. 1 37i_53_ c.(3373+1_3374-1)_*1167{0} r.? p.? ACMG pathogenic g.(107898688_107908736)_(107979573_?)del g.(108655458_108665506)_(108736343_?)del deletion ex38-53 - COL4A5_001837 70kb deletion - - - Germline yes - - - - Jasmina Comic
?/. 1 _1_53_ c.(?_-1)_(*1_?)[2] r.(=)|2 p.(=)|2 - VUS g.(pter_cen_qter)sup - trisomy X (COL4A5/COL4A6dup) - COL4A5_001447 - - - - Germline - - - - - Judy Savige
+/. 1 _1_1i c.-282_(81+1_82-1){0} r.0? p.0? ACMG pathogenic g.(?_107683074)_(107683437_107782975)del g.(?_108439844)_108440207_108539745)del deletion ex1 - COL4A5_001834 - - - - Germline yes - - - - Jasmina Comic
+/. 1 49i c.4528+1609? r.? p.? - pathogenic g.107932533del - 4529-3445 - COL4A5_000000 1 more item PubMed: Hashimura 2014 - - Germline/De novo (untested) ? - - - - Judy Savige
+/. 1 51 c.? r.? p.? - pathogenic g.107938638T>A - 4945T>A (Cys1566*) - COL4A5_000000 1 more item PubMed: Hashimura 2014 - - Germline/De novo (untested) ? - - - - Judy Savige
+/. 3 1 c.1A>G r.(?) p.0? - pathogenic g.107683356A>G g.108440126A>G Met1Val - COL4A5_000004 - Matonagel, PubMed: Renieri 1996 - - Germline - - - - - Judy Savige
+?/. 1 1 c.2T>A r.(?) p.0? - likely pathogenic g.107683357T>A g.108440127T>A - - COL4A5_001453 - PubMed: Fallerini 2014, (DOI:Fallerini 2014:10.1111/cge.12258} - - Germline - - - - - Judy Savige
+/. 1 1 c.2T>C r.(?) p.0? - pathogenic g.107683357T>C g.108440127T>C - - COL4A5_001454 - - - - Germline - - - - - Judy Savige
+/. 1 1 c.2_3del r.(?) p.0? - pathogenic g.107683357_107683358del g.108440127_108440128del 2delTG - COL4A5_000631 - King (2006) Hum Mutat 27, 1061 - - Germline - - - - - Judy Savige
+?/. 1 1 c.2_6del r.(?) p.0? - likely pathogenic g.107683357_107683361del g.108440127_108440131del - - COL4A5_001455 - - - - Germline - - - - - Judy Savige
+?/. 1 1 c.3G>T r.(?) p.0? - likely pathogenic g.107683358G>T g.108440128G>T p.Met1? - COL4A5_001456 - - - - Germline - - - - - Judy Savige
+/. 1 1 c.13G>T r.(?) p.(Gly5*) - pathogenic g.107683368G>T g.108440138G>T 213G>T - COL4A5_000005 - PubMed: Cruz-Robles 1999 - - Germline - - - - - Judy Savige
+/. 1 1 c.38_41dup r.(?) p.(Leu14Phefs*27) - pathogenic g.107683393_107683396dup g.108440163_108440166dup 41_42insTCTT - COL4A5_000647 - Hertz (2001) Hum Mutat 18, 141 - - Germline - - - - - Judy Savige
-?/. 1 - c.46G>T r.(?) p.(Ala16Ser) - likely benign g.107683401G>T g.108440171G>T COL4A5(NM_033380.2):c.46G>T (p.A16S) - COL4A6_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.49_50del r.(?) p.(Leu17Glufs*22) - pathogenic g.107683404_107683405del g.108440174_108440175del 49delCT - COL4A5_000632 - Ellison (2009) Hum Genet 126, 329 - - Germline - - - - - Judy Savige
+/. 1 1 c.57_58del r.(?) p.(Trp20Glyfs*19) - pathogenic g.107683412_107683413del g.108440182_108440183del - - COL4A5_001457 - - - - Germline - - - - - Judy Savige
?/. 1 1 c.64C>T r.(?) p.(Gln22*) - VUS g.107683419C>T g.108440189C>T gCAG-TAG - COL4A5_000421 - PubMed: Pan 2004 - - Germline - - - - - Judy Savige
+/+? 1 1 c.65_77del r.(?) p.(Gln22Leufs*18) - pathogenic g.107683420_107683432del g.108440190_108440202del 65delAGCCTGCAGAGGC - COL4A5_000772 - PubMed: Bekheirnia 2010 - - Germline - - - - - Judy Savige
+/+?, +/. 3 1i c.81+1G>C r.(?), r.spl p.(=), p.? - pathogenic g.107683437G>C g.108440207G>C IVS1+1 - COL4A5_000779 - PubMed: Bekheirnia 2010 - - Germline - - - - - Judy Savige
+/. 1 1i c.81+1G>T r.(?) p.(=) - pathogenic g.107683437G>T g.108440207G>T IVS1+1 - COL4A5_000580 - Pan (2004) Nephrol Dial Transplant 19, 1123 - - Germline - - - - - Judy Savige
+/. 1 1i c.81+2dup r.spl p.? - pathogenic g.107683438dup g.108440208dup 81+1_81+2insT - COL4A5_001458 - - - - Germline - - - - - Judy Savige
+?/. 1 1i c.81+4A>C r.spl? p.? - likely pathogenic g.107683440A>C g.108440210A>C - - COL4A5_001459 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - Judy Savige
-?/. 1 1i c.81+65del r.(?) p.(=) - likely benign g.107683501del g.108440271del - - COL4A5_001350 - - - - Germline - - - - - Yu Sun
-/. 1 - c.81+75dup r.(=) p.(=) - benign g.107683511dup g.108440281dup COL4A5(NM_000495.5):c.81+75dupG - COL4A5_001369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 1i c.81+128T>C r.(?) p.(=) - benign g.107683564T>C g.108440334T>C IVS1+128 - COL4A5_000840 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+1071A>G r.(?) p.(=) - benign g.107684507A>G g.108441277A>G IVS1+1071 - COL4A5_000841 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 15 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - 1000 genomes, Hapmap, HapMap/NCBI - - Germline - 0.083, 0.1, 0.148, 0.167, 0.25, 0.256, 0.261, 0.283, 0.425, 0.5, 1 - - - Judy Savige
-/. 2 1i c.81+3209A>T r.(?) p.(=) - benign g.107686645A>T g.108443415A>T IVS1+3209 - COL4A5_000854 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+5129T>C r.(?) p.(=) - benign g.107688565T>C g.108445335T>C IVS1+5129 - COL4A5_000857 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+6684A>G r.(?) p.(=) - benign g.107690120A>G g.108446890A>G IVS1+6684 - COL4A5_000858 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 31 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - 1000 genomes, Hapmap, HapMap/NCBI - - Germline - 0.233, 0.302, 0.331, 0.354, 0.412, 0.419, 0.42, 0.5, 0.562, 0.567, 0.593, 0.735, 0.739, 0.752, 0.755, 3 more items - - - Judy Savige
-/. 2 1i c.81+9319G>A r.(?) p.(=) - benign g.107692755G>A g.108449525G>A IVS1+9319 - COL4A5_000860 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.81+12106T>G r.(?) p.(=) - benign g.107695542T>G g.108452312T>G IVS1+12106T>G - COL4A5_000910 - Hapmap/ NCBI - - Germline - - - - - Judy Savige
-/. 3 1i c.81+12181T>C r.(?) p.(=) - benign g.107695617T>C g.108452387T>C IVS1+12181T>C - COL4A5_000911 - Hapmap/ NCBI, Hapmap/NCBI - - Germline - 0.333, 1 - - - Judy Savige
-/. 1 1i c.81+12357A>G r.(?) p.(=) - benign g.107695793A>G g.108452563A>G IVS1+12357 - COL4A5_000912 - Hapmap/ NCBI - - Germline - - - - - Judy Savige
-/. 1 1i c.81+12371C>T r.(?) p.(=) - benign g.107695807C>T g.108452577C>T IVS1+12371C>T - COL4A5_000913 - Hapmap/ NCBI - - Germline - - - - - Judy Savige
-/. 1 1i c.81+12488G>A r.(?) p.(=) - benign g.107695924G>A g.108452694G>A IVS1+12488G>A - COL4A5_000914 - Hapmap/NCBI - - Germline - - - - - Judy Savige
-/. 2 1i c.81+12592G>C r.(?) p.(=) - benign g.107696028G>C g.108452798G>C IVS1+12592 - COL4A5_000915 - Hapmap/ NCBI, Hapmap/NCBI - - Germline - 0.5 - - - Judy Savige
-/. 2 1i c.81+15585G>A r.(?) p.(=) - benign g.107699021G>A g.108455791G>A IVS1+15585 - COL4A5_000843 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+15632C>G r.(?) p.(=) - benign g.107699068C>G g.108455838C>G IVS1+15632 - COL4A5_000842 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.81+17572G>T r.(?) p.(=) - benign g.107701008G>T g.108457778G>T IVS1+17572 - COL4A5_000844 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+19188A>G r.(?) p.(=) - benign g.107702624A>G g.108459394A>G IVS1+19188 - COL4A5_000845 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+20262C>A r.(?) p.(=) - benign g.107703698C>A g.108460468C>A IVS-+20262 - COL4A5_000846 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 10 1i c.81+21692A>G r.(?) p.(=) - benign g.107705128A>G g.108461898A>G IVS1+21692 - COL4A5_000917 - Hapmap, Hapmap/NCBI - - Germline - 0.042, 0.065, 0.083, 0.141, 0.167, 0.22, 1 - - - Judy Savige
-/. 3 1i c.81+23412C>A r.(?) p.(=) - benign g.107706848C>A g.108463618C>A IVS1+23412 - COL4A5_000849 - 1000 genomes - - Germline - - - - - Judy Savige
+/. 1 1i_29i c.(81+24198_81+24893)_(2396-1822_2396-30)del r.? p.? - pathogenic g.(107707634_107708329)_(107856319_107858111)del - - - COL4A5_001366 - PubMed: Sa 2013 - - Germline - - - - - Maria João Nabais Sá
-/. 3 1i c.81+28470G>A r.(?) p.(=) - benign g.107711906G>A g.108468676G>A IVS1+28470 - COL4A5_000850 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+30510C>A r.(?) p.(=) - benign g.107713946C>A g.108470716C>A IVS1+30510 - COL4A5_000851 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.81+31710G>T r.(?) p.(=) - benign g.107715146G>T g.108471916G>T IVS-+31710 - COL4A5_000852 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.81+32048G>T r.(?) p.(=) - benign g.107715484G>T g.108472254G>T IVS1+32048 - COL4A5_000853 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.81+40928T>C r.(?) p.(=) - benign g.107724364T>C g.108481134T>C IVS1+40928 - COL4A5_000918 - Hapmap/NCBI - - Germline - 1 - - - Judy Savige
-/. 2 1i c.81+45403A>G r.(?) p.(=) - benign g.107728839A>G g.108485609A>G IVS1+45403 - COL4A5_000855 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.81+47476G>A r.(?) p.(=) - benign g.107730912G>A g.108487682G>A IVS1+47476G>A - COL4A5_000919 1 more item Hapmap/NCBI - - Germline - 0.333 - - - Judy Savige
-/. 1 1i c.81+47485G>A r.(?) p.(=) - benign g.107730921G>A g.108487691G>A IVS1+47485G>A - COL4A5_000920 1 more item Hapmap/ NCBI - - Germline - - - - - Judy Savige
-/. 1 1i c.81+47533G>A r.(?) p.(=) - benign g.107730969G>A g.108487739G>A IVS1+47533G>A - COL4A5_000921 1 more item Hapmap/NCBI - - Germline - - - - - Judy Savige
-/. 2 1i c.81+49724T>C r.(?) p.(=) - benign g.107733160T>C g.108489930T>C IVS1+49724 - COL4A5_000856 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.81+12686926T>C r.(?) p.(=) - benign g.120370362T>C - IVS1+12686926 - COL4A5_000916 1 more item Hapmap/ NCBI - - Germline - 0.333 - - - Judy Savige
-/. 2 1i c.82-48465C>G r.(?) p.(=) - benign g.107734511C>G g.108491281C>G IVS1-48465 - COL4A5_000861 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-48403A>G r.(?) p.(=) - benign g.107734573A>G g.108491343A>G IVS1-48403 - COL4A5_000862 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-45245A>G r.(?) p.(=) - benign g.107737731A>G g.108494501A>G IVS1-45245 - COL4A5_000863 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.82-44745G>A r.(?) p.(=) - benign g.107738231G>A g.108495001G>A IVS1-44745 - COL4A5_000864 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-43429A>G r.(?) p.(=) - benign g.107739547A>G g.108496317A>G IVS1-43429 - COL4A5_000865 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.82-39991C>T r.(?) p.(=) - benign g.107742985C>T g.108499755C>T IVS1-39991 - COL4A5_000866 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-38641G>T r.(?) p.(=) - benign g.107744335G>T g.108501105G>T IVS1-38641 - COL4A5_000867 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-37938T>C r.(?) p.(=) - benign g.107745038T>C g.108501808T>C IVS1-37938 - COL4A5_000868 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-36545G>T r.(?) p.(=) - benign g.107746431G>T g.108503201G>T IVS1-36545 - COL4A5_000869 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.82-34459A>G r.(?) p.(=) - benign g.107748517A>G g.108505287A>G IVS1-34459 - COL4A5_000870 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.82-31988A>G r.(?) p.(=) - benign g.107750988A>G g.108507758A>G 82-31988A>G - COL4A5_000923 - Hapmap/ NCBI, Hapmap/NCBI - - Germline - 0.5, 1 - - - Judy Savige
-/. 2 1i c.82-31535C>T r.(?) p.(=) - benign g.107751441C>T g.108508211C>T IVS1-31535 - COL4A5_000871 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-30400C>T r.(?) p.(=) - benign g.107752576C>T g.108509346C>T IVS1-30400 - COL4A5_000872 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-28325T>C r.(?) p.(=) - benign g.107754651T>C g.108511421T>C IVS1-28325 - COL4A5_000873 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 16 1i c.82-25805G>A r.(?) p.(=) - benign g.107757171G>A g.108513941G>A IVS1-25805G>A - COL4A5_000924 - Hapmap/ NCBI, Hapmap/NCBI - - Germline - 0.222, 0.243, 0.245, 0.246, 0.261, 0.265, 0.43, 0.5, 0.518, 0.58, 0.588, 0.63, 0.646, 0.698, 1 - - - Judy Savige
-/. 13 1i c.82-25537C>G r.(?) p.(=) - benign g.107757439C>G g.108514209C>G IVS1-25537, IVS1-28837 - COL4A5_000874 - 1000 genomes, Hapmap, HapMap/NCBI - - Germline - 0.233, 0.258, 0.5, 0.589, 0.682, 1 - - - Judy Savige
+/. 2 1i_53_ c.82-23455_*969310del r.0? p.0? - pathogenic g.107759521_108908918del - COL4A5 IVS2_ACSL4 IVS12 del, IVS1 to ACSL4 IVS12del - COL4A5_000981 fusion transcript COL4A5_ACSL4 PubMed: Rodriguez 2010, PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998 - - Germline - - - - - Judy Savige
-/. 3 1i c.82-22845G>A r.(?) p.(=) - benign g.107760131G>A g.108516901G>A IVS1-22845 - COL4A5_000875 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 3 1i c.82-20870G>A r.(?) p.(=) - benign g.107762106G>A g.108518876G>A IVS1-20870 - COL4A5_000876 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 2 1i c.82-12293A>G r.(?) p.(=) - benign g.107770683A>G g.108527453A>G IVS1-12293 - COL4A5_000877 - 1000 genomes - - Germline - - - - - Judy Savige
+/. 1 1i_51_ c.82-9637_*11002del r.0? p.0? - pathogenic g.107773341_107950612del g.108530111_108707382del ex2-51 del, chrX:g.107773340_107950610del - COL4A5_001430 - PubMed: Sa 2013, Journal: Sa 2013 - - Germline - - - - - Judy Savige
-/. 2 1i c.82-1279A>G r.(?) p.(=) - benign g.107781697A>G g.108538467A>G IVS1-1279 - COL4A5_000878 - 1000 genomes - - Germline - - - - - Judy Savige
-/. 1 1i c.82-212C>T r.(?) p.(=) - benign g.107782764C>T g.108539534C>T IVS1-212 - COL4A5_000879 - 1000 genomes - - Germline - - - - - Judy Savige
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