Unique variants in gene COL4A6

Information The variants shown are described using the NM_001847.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
Legend  

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     
+/. 1 _1_2i c.-253893_67-43059del 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
+/. 1 _1_2i c.-193684_67-7638del 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_2i c.-127812_67-41438del 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_2i c.-18875_66+25107del 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_2i c.-8903_66+5840del 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 _1_2i c.-2752_66+36149del 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 - - - - - Judy Savige
-/. 1 - c.-901dup r.(?) p.(=) - benign g.107683511dup g.108440281dup COL4A5(NM_000495.3):c.81+75dupG - COL4A5_001369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-800C>A r.(?) p.(=) - 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.-739G>A r.(?) p.(=) - VUS g.107683340C>T g.108440110C>T - - COL4A6_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 10 _1_2i, _1_3i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107869580_107898560)del, g.(107554059_107681171)_(107939609_?)del, 2 more items - COL4A6 E2 to COL4A5 E36del, COL4A6 E2 to COL4A5 E53del, COL4A6 E2 to COL4A5 E2del, 2 more items - COL4A5_001364, COL4A5_000975, COL4A5_000377, COL4A5_000375 - PubMed: Uliana 2011, PubMed: Nozu 2008, PubMed: Nozu 2009, PubMed: Zhang 2012, Heidet, 4 more items - - Germline - - - - - Johan den Dunnen
+/. 4 _1_3i c.(?_-1)_(147+1_148-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107821614_107823762)del, g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E13del, COL4A6 E3 to COL4A5 E1del - COL4A5_001365, COL4A6_000079 - PubMed: Sa 2013, PubMed: Uliana 2011, PubMed: Wang 2002, PubMed: Plant 1999 - - Germline - - - - - Maria João Nabais Sá, Johan den Dunnen
+/. 3 _1_45_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_107400229)_(107783036_107802293), g.(107230000_107280000)_(108790000_108880000)del, 1 more item - 1-?_141+?del, COL4A5/A6 deletion - COL4A5_000000 COL4A5 del ex1-2, COL4A6 del all ex, 1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes PubMed: Moriniere 2014, Journal: Moriniere 2014, PubMed: Thielen 2003, PubMed: Hoischen 2009 - - Germline, De novo - - - - - Judy Savige, Johan den Dunnen
?/. 1 _1_45_ 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_2i c.(?_1)_(63+1_64-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107898688_107908736)del - - - COL4A5_001412 - - - - De novo yes - - - - Pavlina Plevova
?/. 2 - c.147+42548G>A r.(=) p.(=) - VUS g.107511430C>T g.108268200C>T - - COL4A6_000010 - - - - Germline - - - - - Yu Sun
?/. 2 - c.147+42828A>G r.(=) p.(=) - VUS g.107511150T>C g.108267920T>C - - COL4A6_000015 - - - - Germline - - - - - Yu Sun
?/. 2 - c.147+42966C>T r.(=) p.(=) - VUS g.107511012G>A g.108267782G>A - - COL4A6_000046 - - - - Germline - - - - - Yu Sun
?/. 2 - c.147+43063del r.(=) p.(=) - VUS g.107510916del g.108267686del - - COL4A6_000044 - - - - Germline - - - - - Yu Sun
?/. 2 - c.147+43066del r.(=) p.(=) - VUS g.107510914del g.108267684del - - COL4A6_000074 - - - - Germline - - - - - Yu Sun
?/. 2 - c.147+43267G>A r.(=) p.(=) - VUS g.107510711C>T g.108267481C>T - - COL4A6_000040 - - - - Germline - - - - - Yu Sun
?/. 1 - c.283-431G>T r.(=) p.(=) - VUS g.107463403C>A g.108220173C>A - - COL4A6_000039 - - - - Germline - - - - - Yu Sun
?/. 2 - c.283-130_283-119del r.(=) p.(=) - VUS g.107463093_107463104del g.108219863_108219874del - - COL4A6_000037 - - - - Germline - - - - - Yu Sun
?/. 2 - c.283-129_283-118del r.(=) p.(=) - VUS g.107463090_107463101del g.108219860_108219871del - - COL4A6_000072 - - - - Germline - - - - - Yu Sun
?/. 1 5 c.323C>T r.(?) p.(Pro108Leu) - VUS g.107462932G>A - - - COL4A6_000004 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.326C>T r.(?) p.(Pro109Leu) - likely benign g.107462929G>A g.108219699G>A COL4A6(NM_001287758.1):c.323C>T (p.P108L) - COL4A6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.354A>G r.(?) p.(Arg118=) - likely benign g.107457432T>C g.108214202T>C COL4A6(NM_001287758.1):c.351A>G (p.R117=) - COL4A6_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.445-44G>A r.(=) p.(=) - VUS g.107455014C>T g.108211784C>T - - COL4A6_000032 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.447G>C r.(?) p.(Gly149=) - likely benign g.107454968C>G g.108211738C>G COL4A6(NM_001287758.1):c.444G>C (p.G148=) - COL4A6_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.550-291A>C r.(=) p.(=) - VUS g.107450101T>G g.108206871T>G - - COL4A6_000030 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.613-6dup r.(=) p.(=) - likely benign g.107448938dup - COL4A6(NM_001287758.1):c.610-6dupA - COL4A6_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.651G>A r.(?) p.(Gly217=) - likely benign g.107448708C>T g.108205478C>T COL4A6(NM_001287758.1):c.648G>A (p.G216=) - COL4A6_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.690+30C>A r.(=) p.(=) - VUS g.107448639G>T g.108205409G>T - - COL4A6_000027 - - - - Germline - - - - - Yu Sun
?/. 1 - c.690+282C>A r.(=) p.(=) - VUS g.107448387G>T g.108205157G>T - - COL4A6_000026 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.741G>C r.(?) p.(Glu247Asp) - likely benign g.107447592C>G g.108204362C>G COL4A6(NM_001287758.1):c.738G>C (p.E246D) - COL4A6_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -/., -?/. 3 - c.874_882del r.(?) p.(Glu292_Gly294del) - VUS, benign, likely benign g.107439786_107439794del g.108196556_108196564del 1 more item - COL4A6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 4 - c.907-150dup r.(=) p.(=) - VUS g.107438519dup g.108195289dup - - COL4A6_000024, COL4A6_000078 - - - - Germline - - - - - Yu Sun
?/. 2 - c.951+193C>A r.(=) p.(=) - VUS g.107438119G>T g.108194889G>T - - COL4A6_000066 - - - - Germline - - - - - Yu Sun
?/., -/. 3 - c.952-31C>G r.(=) p.(=) - VUS, benign g.107437848G>C g.108194618G>C COL4A6(NM_033641.3):c.949-31C>G - COL4A6_000063 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Yu Sun, VKGL-NL_Groningen
-?/. 1 - c.1076-3C>T r.spl? p.? - likely benign g.107435813G>A g.108192583G>A COL4A6(NM_001847.2):c.1076-3C>T (p.?) - COL4A6_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 20 c.1360T>C r.(?) p.(Ser454Pro) - VUS g.107433691A>G - - - COL4A6_000001 1 more item PubMed: Tarpey 2009 - - Germline - 23/208 cases - - - Lucy Raymond
?/., -/. 3 - c.1363T>C r.(?) p.(Ser455Pro) - VUS, benign g.107433688A>G g.108190458A>G COL4A6(NM_033641.3):c.1360T>C (p.S454P) - COL4A6_000060 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Yu Sun, VKGL-NL_Groningen
?/. 1 20 c.1379G>T r.(?) p.(Arg460Leu) - VUS g.107433672C>A - - - COL4A6_000002 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1382G>A r.(?) p.(Arg461Gln) - likely benign g.107433669C>T g.108190439C>T COL4A6(NM_001847.2):c.1382G>A (p.(Arg461Gln)) - COL4A6_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 21 c.1430G>A r.(?) p.(Gly477Glu) - VUS g.107431907C>T g.108188677C>T - - COL4A6_000101 - - - - Germline - - - - - Judy Savige
-?/. 1 - c.1654A>G r.(?) p.(Thr552Ala) - likely benign g.107431194T>C g.108187964T>C COL4A6(NM_001287758.1):c.1651A>G (p.T551A) - COL4A6_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1657A>T r.(?) p.(Ile553Phe) - likely benign g.107431191T>A g.108187961T>A COL4A6(NM_001847.2):c.1657A>T (p.(Ile553Phe)) - COL4A6_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1679G>A r.(?) p.(Arg560Gln) - likely benign g.107431169C>T g.108187939C>T COL4A6(NM_001287758.1):c.1676G>A (p.R559Q) - COL4A6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1741C>T r.(?) p.(Pro581Ser) - VUS g.107431107G>A g.108187877G>A COL4A6(NM_001287758.1):c.1738C>T (p.P580S) - COL4A6_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1769C>T r.(?) p.(Pro590Leu) - VUS g.107431079G>A g.108187849G>A COL4A6(NM_001287758.1):c.1766C>T (p.P589L) - COL4A6_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1771-70C>T r.(=) p.(=) - VUS g.107430579G>A g.108187349G>A - - COL4A6_000057 - - - - Germline - - - - - Yu Sun
-/. 1 - c.1955-2785_1955-2784insAAG r.(=) p.(=) - benign g.107426984_107426985insTCT g.108183754_108183755insTCT COL4A6(NM_001287758.1):c.1971_1972insAAG (p.E657_V658insK) - COL4A6_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.2134+67_2134+70del r.(=) p.(=) - VUS g.107423698_107423701del g.108180468_108180471del - - COL4A6_000055 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2134+67_2134+72del r.(=) p.(=) - VUS g.107423674_107423679del g.108180444_108180449del - - COL4A6_000071 - - - - Germline - - - - - Yu Sun
?/. 2 - c.2134+69_2134+72del r.(=) p.(=) - VUS g.107423674_107423677del g.108180444_108180447del - - COL4A6_000069 - - - - Germline - - - - - Yu Sun
?/. 2 - c.2167C>T r.(?) p.(Pro723Ser) - VUS g.107422636G>A g.108179406G>A COL4A6(NM_001287758.1):c.2215C>T (p.P739S), COL4A6(NM_001847.2):c.2167C>T (p.(Pro723Ser)) - COL4A6_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 - c.2374G>A r.(?) p.(Gly792Ser) - likely benign g.107422058C>T g.108178828C>T COL4A6(NM_001287758.1):c.2422G>A (p.G808S), COL4A6(NM_001847.2):c.2374G>A (p.(Gly792Ser)) - COL4A6_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2543G>A r.(?) p.(Arg848Lys) - likely benign g.107420217C>T g.108176987C>T COL4A6(NM_001287758.1):c.2591G>A (p.R864K) - COL4A6_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2585T>C r.(?) p.(Leu862Pro) - likely benign g.107420175A>G g.108176945A>G COL4A6(NM_001287758.1):c.2633T>C (p.L878P) - COL4A6_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -/. 4 - c.2811T>C r.(?) p.(Arg937=) - VUS, benign g.107418906A>G g.108175676A>G COL4A6(NM_033641.3):c.2808T>C (p.R936=) - COL4A6_000049 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Yu Sun, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2832G>C r.(?) p.(Lys944Asn) - VUS g.107418885C>G g.108175655C>G - - COL4A6_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2850G>A r.(?) p.(Pro950=) - likely benign g.107418429C>T g.108175199C>T COL4A6(NM_001287758.1):c.2898G>A (p.P966=) - COL4A6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2959+39G>A r.(=) p.(=) - VUS g.107418281C>T g.108175051C>T - - COL4A6_000017 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3077G>A r.(?) p.(Arg1026Gln) - likely benign g.107417734C>T g.108174504C>T COL4A6(NM_001287758.1):c.3125G>A (p.R1042Q) - COL4A6_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 31 c.3078C>T r.(?) p.(Gly1026=) - likely benign g.107417733G>A - - - COL4A6_000003 1 more item PubMed: Tarpey 2009 - - Germline - 35/208 cases - - - Lucy Raymond
?/. 1 - c.3141+3A>G r.spl? p.? - VUS g.107417667T>C g.108174437T>C COL4A6(NM_001287758.1):c.3189+3A>G - COL4A6_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.3142-63A>G r.(=) p.(=) - VUS g.107415825T>C g.108172595T>C - - COL4A6_000014 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3142-4G>A r.spl? p.? - likely benign g.107415766C>T g.108172536C>T COL4A6(NM_001287758.1):c.3190-4G>A - COL4A6_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3205+78del r.(=) p.(=) - VUS g.107415621del g.108172391del - - COL4A6_000077 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3205+103del r.(=) p.(=) - VUS g.107415620del g.108172390del - - COL4A6_000076 - - - - Germline - - - - - Yu Sun
-?/. 1 35 c.3402C>T r.(?) p.(Ala1134=) - likely benign g.107413933G>A - - - COL4A6_000005 1 more item PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 1 35 c.3481A>G r.(?) p.(Ile1161Val) - VUS g.107413854T>C - - - COL4A6_000006 1 more item PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
?/. 1 - c.3511C>T r.(?) p.(Pro1171Ser) - VUS g.107413232G>A g.108170002G>A COL4A6(NM_001287758.1):c.3559C>T (p.P1187S) - COL4A6_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 38 c.3760G>T r.(?) p.(Ala1254Ser) - VUS g.107408651C>A - - - COL4A6_000007 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.3763G>T r.(?) p.(Ala1255Ser) - benign g.107408648C>A g.108165418C>A COL4A6(NM_001287758.1):c.3811G>T (p.A1271S) - COL4A6_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3807A>T r.(?) p.(Glu1269Asp) - VUS g.107408604T>A g.108165374T>A COL4A6(NM_001847.2):c.3807A>T (p.(Glu1269Asp)) - COL4A6_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3812G>A r.(?) p.(Gly1271Asp) - VUS g.107408268C>T g.108165038C>T COL4A6(NM_001847.2):c.3812G>A (p.(Gly1271Asp)) - COL4A6_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 39 c.3874G>A r.(?) p.(Gly1292Arg) - VUS g.107408206C>T g.108164976C>T - - COL4A6_000100 - - - - Germline - - - - - Judy Savige
?/. 1 39 c.3886C>T r.(?) p.(Pro1296Ser) - VUS g.107408194G>A - - - COL4A6_000008 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.4073-380G>A r.(=) p.(=) - VUS g.107406648C>T g.108163418C>T - - COL4A6_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.4406C>T r.(?) p.(Thr1469Met) - likely benign g.107403815G>A g.108160585G>A COL4A6(NM_001847.2):c.4406C>T (p.(Thr1469Met)) - COL4A6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4453G>A r.(?) p.(Gly1485Arg) - VUS g.107403768C>T g.108160538C>T COL4A6(NM_001847.2):c.4453G>A (p.(Gly1485Arg)) - COL4A6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4491T>C r.(?) p.(Phe1497=) - likely benign g.107403730A>G - COL4A6(NM_001287758.1):c.4539T>C (p.F1513=) - COL4A6_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4632G>A r.(?) p.(Trp1544Ter) - VUS g.107402875C>T g.108159645C>T COL4A6(NM_001287758.1):c.4680G>A (p.W1560*) - COL4A6_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.4816-349C>T r.(=) p.(=) - VUS g.107400839G>A g.108157609G>A - - COL4A6_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.4837G>A r.(?) p.(Gly1613Ser) - VUS g.107400469C>T g.108157239C>T COL4A6(NM_001287758.1):c.4885G>A (p.G1629S) - COL4A6_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*717T>C r.(=) p.(=) - VUS g.107399513A>G g.108156283A>G - - COL4A6_000012 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*809A>G r.(=) p.(=) - VUS g.107399421T>C g.108156191T>C - - COL4A6_000013 - - - - Germline - - - - - Yu Sun
Legend