All 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.

2532 entries on 26 pages. Showing entries 1 - 100.
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Effect     

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     
-/. 1i c.81+22538A>B r.(?) p.(=) - benign g.107705974A>B - IVS1+22538 - COL4A5_000848 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+22538A>B r.(?) p.(=) - benign g.107705974A>B - IVS1+22538 - COL4A5_000848 - 1000 genomes - - Germline - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _1i c.-38333_81+1917del r.0? p.0? - pathogenic g.107645024_107685354del g.108401794_108442124del ChrX.hG19:G.107,645,023_107,685,353del - COL4A5_001344 - - - - Unknown - - - 0 - Kwong Leong Wong
?/. _1i c.-38333_81+1917del r.0? p.0? - VUS g.107645024_107685354del g.108401794_108442124del ChrX.hG19:G.107,645,023_107,685,353del - COL4A5_001344 - - - - Unknown - - - 0 - Kwong Leong Wong
+/. _1_1i c.-38333_81+1917del r.0? p.0? - pathogenic g.107645024_107685354del g.108401794_108442124del 40 kb del ex1-2 COL4A6/ex1 COL4A5 - COL4A5_001344 - PubMed: Liu 2015, Journal: Liu 2015 - - Germline - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
-?/. - 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 c.-1964G>C r.= p.= - VUS g.107681392G>C g.108438162G>C - - COL4A5_000819 - NCBI - - Germline - - - 0 - Judy Savige
?/. - 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 c.-13G>A r.(?) p.(=) - VUS g.107683343G>A g.108440113G>A 190G>A - COL4A5_000085 - PubMed: Hertz 2001 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A5_000374 - PubMed: Plant 1999 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Thielen 2003 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Thielen 2003 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 120kb deletion PubMed: Mothes 2002 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A5_000374 - PubMed: Wang 2002 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107683437_107782975)del - _E1del - COL4A5_000985 - PubMed: Antignac 1992 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 - PubMed: Renieri 1994 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Oohashi 2011 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A5_000374 - PubMed: Uliana 2011 - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 - PubMed: Uliana 2011 - - Germline - - - 0 - Judy Savige
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 - Heidet - - Germline - - - 0 - Judy Savige
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107683437_107782975)del - Ex1del - COL4A5_000985 - Matonagel - - Germline - - - 0 - Judy Savige
+/+ _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107683437_107782975)del - Ex1del - COL4A5_000985 - Matonagel - - Germline - - - 0 - Judy Savige
+/. _1_1i c.(?_-1)_(81+1_82-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - ex1 del - COL4A5_000374 - PubMed: Hashimura 2014 - - Germline/De novo (untested) ? - - 0 - Judy Savige
+/. _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107783036_107802293)del - COL4A6 E2 to COL4A5 E2del - COL4A5_000978 - PubMed: Zhang 2012 - - Germline - - - 0 - Judy Savige
+/+ _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0? - pathogenic g.(?_107683355)_(107783036_107802293)del - Ex1_2del - COL4A5_000982 - Matonagel - - Germline - - - 0 - Judy Savige
+/. _1_2i c.(?_-1)_(141+1_142-1)del r.0? p.0? - pathogenic g.(?_107400229)_(107783036_107802293) - 1-?_141+?del - COL4A5_000000 COL4A5 del ex1-2, COL4A6 del all ex PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/+ _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Maria João Nabais Sá
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - 0 - Pavlina Plevova
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(107230000_107280000)_(108790000_108880000)del - COL4A5/A6 deletion - COL4A5_000000 1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes PubMed: Thielen 2003 - - Germline - - - 0 - Judy Savige
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_107683355)_(107939609_?)del - E1_E51del - COL4A5_000381 - PubMed: Barker 2001 - - Germline - - - 0 - Judy Savige
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(107100000_107250000)_(110555965_110574146)del - - - COL4A5_000000 3.3Mb deletion containing COL4A6, COL4A5, FACL4, PAK3 and DCX (partial IVS5) gene PubMed: Hoischen 2009 - - De novo - - - 0 - Judy Savige
+/. _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(107554059_107681171)_(107939609_?)del - COL4A6 E2 to COL4A5 E53del - COL4A5_000975 - PubMed: Nozu 2008, PubMed: Nozu 2009 - - Germline - - - 0 - Judy Savige
+/+ _1_53_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_107683355)_(107939609_?)del - Ex1_53del - COL4A5_000381 - Matonagel - - Germline - - - 0 - Judy Savige
+/. 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 - - 0 - Jasmina Comic
?/. _1_53_ c.(?_-1)_(*1_?)[2] r.(=)|2 p.(=)|2 - VUS g.(pter_cen_qter)sup - trisomy X (COL4A5/COL4A6dup) - COL4A5_001447 - - - - Germline - - - 0 - Judy Savige
+/. _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 - - 0 - Jasmina Comic
+/. 49i c.4528+1609? r.? p.? - pathogenic g.107932533del - 4529-3445 - COL4A5_000000 cryptic exon in intron 47 84bp ins Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Hashimura 2014 - - Germline/De novo (untested) ? - - 0 - Judy Savige
+/. 51 c.? r.? p.? - pathogenic g.107938638T>A - 4945T>A (Cys1566*) - COL4A5_000000 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Hashimura 2014 - - Germline/De novo (untested) ? - - 0 - Judy Savige
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.107683356A>G g.108440126A>G Met1Val - COL4A5_000004 - PubMed: Renieri 1996 - - Germline - - - 0 - Judy Savige
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.107683356A>G g.108440126A>G Met1Val - COL4A5_000004 - Matonagel - - Germline - - - 0 - Judy Savige
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.107683356A>G g.108440126A>G Met1Val - COL4A5_000004 - Matonagel - - Germline - - - 0 - Judy Savige
+?/. 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 - - - 0 - Judy Savige
+/. 1 c.2T>C r.(?) p.0? - pathogenic g.107683357T>C g.108440127T>C - - COL4A5_001454 - - - - Germline - - - 0 - Judy Savige
+/. 1 c.2_3del r.(?) p.0? - pathogenic g.107683357_107683358del g.108440127_108440128del 2delTG - COL4A5_000631 - King (2006) Hum Mutat 27, 1061 - - Germline - - - 0 - Judy Savige
+?/. 1 c.2_6del r.(?) p.0? - likely pathogenic g.107683357_107683361del g.108440127_108440131del - - COL4A5_001455 - - - - Germline - - - 0 - Judy Savige
+?/. 1 c.3G>T r.(?) p.0? - likely pathogenic g.107683358G>T g.108440128G>T p.Met1? - COL4A5_001456 - - - - Germline - - - 0 - Judy Savige
+/. 1 c.13G>T r.(?) p.(Gly5*) - pathogenic g.107683368G>T g.108440138G>T 213G>T - COL4A5_000005 - PubMed: Cruz-Robles 1999 - - Germline - - - 0 - Judy Savige
+/. 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 - - - 0 - Judy Savige
-?/. - 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 c.49_50del r.(?) p.(Leu17Glufs*22) - pathogenic g.107683404_107683405del g.108440174_108440175del 49delCT - COL4A5_000632 - Ellison (2009) Hum Genet 126, 329 - - Germline - - - 0 - Judy Savige
+/. 1 c.57_58del r.(?) p.(Trp20Glyfs*19) - pathogenic g.107683412_107683413del g.108440182_108440183del - - COL4A5_001457 - - - - Germline - - - 0 - Judy Savige
?/. 1 c.64C>T r.(?) p.(Gln22*) - VUS g.107683419C>T g.108440189C>T gCAG-TAG - COL4A5_000421 - PubMed: Pan 2004 - - Germline - - - 0 - Judy Savige
+/+? 1 c.65_77del r.(?) p.(Gln22Leufs*18) - pathogenic g.107683420_107683432del g.108440190_108440202del 65delAGCCTGCAGAGGC - COL4A5_000772 - PubMed: Bekheirnia 2010 - - Germline - - - 0 - Judy Savige
+/+? 1i c.81+1G>C r.(?) p.(=) - pathogenic g.107683437G>C g.108440207G>C IVS1+1 - COL4A5_000779 - PubMed: Bekheirnia 2010 - - Germline - - - 0 - Judy Savige
+/. 1i c.81+1G>C r.spl p.? - pathogenic g.107683437G>C g.108440207G>C - - COL4A5_000779 - - - - Germline - - - 0 - Judy Savige
+/. 1i c.81+1G>C r.(?) p.(=) - pathogenic g.107683437G>C g.108440207G>C - - COL4A5_000779 - - - - Germline - - - 0 - Judy Savige
+/. 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 - - - 0 - Judy Savige
+/. 1i c.81+2dup r.spl p.? - pathogenic g.107683438dup g.108440208dup 81+1_81+2insT - COL4A5_001458 - - - - Germline - - - 0 - Judy Savige
+?/. 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 - - - 0 - Judy Savige
-?/. 1i c.81+65del r.(?) p.(=) - likely benign g.107683501del g.108440271del - - COL4A5_001350 - - - - Germline - - - 0 - Yu Sun
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. 1i c.81+128T>C r.(?) p.(=) - benign g.107683564T>C g.108440334T>C IVS1+128 - COL4A5_000840 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+128T>C r.(?) p.(=) - benign g.107683564T>C g.108440334T>C IVS1+128 - COL4A5_000840 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+1071A>G r.(?) p.(=) - benign g.107684507A>G g.108441277A>G IVS1+1071 - COL4A5_000841 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+1071A>G r.(?) p.(=) - benign g.107684507A>G g.108441277A>G IVS1+1071 - COL4A5_000841 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - Hapmap - - Germline - - - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - Hapmap - - Germline - - - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.5 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.167 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.083 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.1 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.25 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.261 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.283 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 1 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.425 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.256 - 0 - Judy Savige
-/. 1i c.81+2106G>C r.(?) p.(=) - benign g.107685542G>C g.108442312G>C IVS1+2106 - COL4A5_000847 - HapMap/NCBI - - Germline - 0.148 - 0 - Judy Savige
-/. 1i c.81+3209A>T r.(?) p.(=) - benign g.107686645A>T g.108443415A>T IVS1+3209 - COL4A5_000854 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+3209A>T r.(?) p.(=) - benign g.107686645A>T g.108443415A>T IVS1+3209 - COL4A5_000854 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+5129T>C r.(?) p.(=) - benign g.107688565T>C g.108445335T>C IVS1+5129 - COL4A5_000857 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+5129T>C r.(?) p.(=) - benign g.107688565T>C g.108445335T>C IVS1+5129 - COL4A5_000857 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+6684A>G r.(?) p.(=) - benign g.107690120A>G g.108446890A>G IVS1+6684 - COL4A5_000858 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+6684A>G r.(?) p.(=) - benign g.107690120A>G g.108446890A>G IVS1+6684 - COL4A5_000858 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - 1000 genomes - - Germline - - - 0 - Judy Savige
-/. 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - Hapmap - - Germline - - - 0 - Judy Savige
-/. 1i c.81+8869C>T r.(?) p.(=) - benign g.107692305C>T g.108449075C>T IVS1+8869 - COL4A5_000859 - Hapmap - - Germline - - - 0 - Judy Savige
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