All transcript variants in gene COL4A6

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

135 entries on 2 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     
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
+/. _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 - - - 0 - Judy Savige
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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
?/. - c.-739G>A r.(?) p.(=) - VUS g.107683340C>T g.108440110C>T - - COL4A6_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107869580_107898560)del - COL4A6 E2 to COL4A5 E36del - COL4A5_001364 - PubMed: Uliana 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)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 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107783036_107802293)del - COL4A6 E2 to COL4A5 E2del - COL4A5_000975 - PubMed: Zhang 2012 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000975 - Heidet - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000377 - PubMed: Uliana 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Oohashi 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 - PubMed: Renieri 1994 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 E2 to COL4A5 E1del - COL4A5_000375 - PubMed: Mothes 2002 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Thielen 2003 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.(?_-1)_(66+1_67-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107683437_107782975)del - COL4A6 IVS2 to COL4A5 IVS1del - COL4A5_000375 - PubMed: Thielen 2003 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.(?_-1)_(147+1_148-1)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_3i c.(?_-1)_(147+1_148-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A6_000079 - PubMed: Uliana 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.(?_-1)_(147+1_148-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A6_000079 - PubMed: Wang 2002 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.(?_-1)_(147+1_148-1)del r.0? p.0? - pathogenic g.(107464605_107553977)_(107683437_107782975)del - COL4A6 E3 to COL4A5 E1del - COL4A6_000079 - PubMed: Plant 1999 - - Germline - - - 0 - Johan den Dunnen
+/. _1_45_ 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 - Johan den Dunnen
+/. _1_45_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(107100000_107250000)_(110555965_110574146)del - - - COL4A5_000000 - PubMed: Hoischen 2009 - - De novo - - - 0 - Johan den Dunnen
+/. _1_45_ c.(?_-1)_(*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_45_ 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_2i c.(?_1)_(63+1_64-1)del r.0? p.0? - pathogenic g.(107554059_107681171)_(107898688_107908736)del - - - COL4A5_001412 - - - - De novo yes - - 0 - Pavlina Plevova
?/. - c.147+42548G>A r.(=) p.(=) - VUS g.107511430C>T g.108268200C>T - - COL4A6_000010 - - - - Germline - - - - - Yu Sun
?/. - c.147+42548G>A r.(=) p.(=) - VUS g.107511430C>T g.108268200C>T - - COL4A6_000010 - - - - Germline - - - - - Yu Sun
?/. - c.147+42828A>G r.(=) p.(=) - VUS g.107511150T>C g.108267920T>C - - COL4A6_000015 - - - - Germline - - - - - Yu Sun
?/. - c.147+42828A>G r.(=) p.(=) - VUS g.107511150T>C g.108267920T>C - - COL4A6_000015 - - - - Germline - - - - - Yu Sun
?/. - c.147+42966C>T r.(=) p.(=) - VUS g.107511012G>A g.108267782G>A - - COL4A6_000046 - - - - Germline - - - - - Yu Sun
?/. - c.147+42966C>T r.(=) p.(=) - VUS g.107511012G>A g.108267782G>A - - COL4A6_000046 - - - - Germline - - - - - Yu Sun
?/. - c.147+43063del r.(=) p.(=) - VUS g.107510916del g.108267686del - - COL4A6_000044 - - - - Germline - - - - - Yu Sun
?/. - c.147+43063del r.(=) p.(=) - VUS g.107510916del g.108267686del - - COL4A6_000044 - - - - Germline - - - - - Yu Sun
?/. - c.147+43066del r.(=) p.(=) - VUS g.107510914del g.108267684del - - COL4A6_000074 - - - - Germline - - - - - Yu Sun
?/. - c.147+43066del r.(=) p.(=) - VUS g.107510914del g.108267684del - - COL4A6_000074 - - - - Germline - - - - - Yu Sun
?/. - c.147+43267G>A r.(=) p.(=) - VUS g.107510711C>T g.108267481C>T - - COL4A6_000040 - - - - Germline - - - - - Yu Sun
?/. - c.147+43267G>A r.(=) p.(=) - VUS g.107510711C>T g.108267481C>T - - COL4A6_000040 - - - - Germline - - - - - Yu Sun
?/. - c.283-431G>T r.(=) p.(=) - VUS g.107463403C>A g.108220173C>A - - COL4A6_000039 - - - - Germline - - - - - Yu Sun
?/. - c.283-130_283-119del r.(=) p.(=) - VUS g.107463093_107463104del g.108219863_108219874del - - COL4A6_000037 - - - - Germline - - - - - Yu Sun
?/. - c.283-130_283-119del r.(=) p.(=) - VUS g.107463093_107463104del g.108219863_108219874del - - COL4A6_000037 - - - - Germline - - - - - Yu Sun
?/. - c.283-129_283-118del r.(=) p.(=) - VUS g.107463090_107463101del g.108219860_108219871del - - COL4A6_000072 - - - - Germline - - - - - Yu Sun
?/. - c.283-129_283-118del r.(=) p.(=) - VUS g.107463090_107463101del g.108219860_108219871del - - COL4A6_000072 - - - - Germline - - - - - Yu Sun
?/. 5 c.323C>T r.(?) p.(Pro108Leu) - VUS g.107462932G>A - - - COL4A6_000004 found once Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
?/. - c.445-44G>A r.(=) p.(=) - VUS g.107455014C>T g.108211784C>T - - COL4A6_000032 - - - - Germline - - - - - Yu Sun
?/. - c.445-44G>A r.(=) p.(=) - VUS g.107455014C>T g.108211784C>T - - COL4A6_000032 - - - - Germline - - - - - Yu Sun
-?/. - 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
?/. - c.550-291A>C r.(=) p.(=) - VUS g.107450101T>G g.108206871T>G - - COL4A6_000030 - - - - Germline - - - - - Yu Sun
-?/. - 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
-?/. - 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
?/. - c.690+30C>A r.(=) p.(=) - VUS g.107448639G>T g.108205409G>T - - COL4A6_000027 - - - - Germline - - - - - Yu Sun
?/. - c.690+30C>A r.(=) p.(=) - VUS g.107448639G>T g.108205409G>T - - COL4A6_000027 - - - - Germline - - - - - Yu Sun
?/. - c.690+282C>A r.(=) p.(=) - VUS g.107448387G>T g.108205157G>T - - COL4A6_000026 - - - - Germline - - - - - Yu Sun
-?/. - 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
?/. - c.874_882del r.(?) p.(Glu292_Gly294del) - VUS g.107439786_107439794del g.108196556_108196564del COL4A6(NM_001287758.1):c.871_879delGAAAAGGGA (p.E291_G293del), COL4A6(NM_001847.2):c.874_882del (p.?) - COL4A6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.874_882del r.(?) p.(Glu292_Gly294del) - benign g.107439786_107439794del g.108196556_108196564del COL4A6(NM_001287758.1):c.871_879delGAAAAGGGA (p.E291_G293del), COL4A6(NM_001847.2):c.874_882del (p.?) - COL4A6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.874_882del r.(?) p.(Glu292_Gly294del) - likely benign g.107439786_107439794del g.108196556_108196564del COL4A6(NM_001287758.1):c.871_879delGAAAAGGGA (p.E291_G293del), COL4A6(NM_001847.2):c.874_882del (p.?) - COL4A6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.907-150dup r.(=) p.(=) - VUS g.107438519dup g.108195289dup - - COL4A6_000024 - - - - Germline - - - - - Yu Sun
?/. - c.907-150dup r.(=) p.(=) - VUS g.107438519dup g.108195289dup - - COL4A6_000078 - - - - Germline - - - - - Yu Sun
?/. - c.907-150dup r.(=) p.(=) - VUS g.107438519dup g.108195289dup - - COL4A6_000024 - - - - Germline - - - - - Yu Sun
?/. - c.907-150dup r.(=) p.(=) - VUS g.107438519dup g.108195289dup - - COL4A6_000078 - - - - Germline - - - - - Yu Sun
?/. - c.951+193C>A r.(=) p.(=) - VUS g.107438119G>T g.108194889G>T - - COL4A6_000066 - - - - Germline - - - - - Yu Sun
?/. - c.951+193C>A r.(=) p.(=) - VUS g.107438119G>T g.108194889G>T - - COL4A6_000066 - - - - Germline - - - - - Yu Sun
?/. - c.952-31C>G r.(=) p.(=) - VUS g.107437848G>C g.108194618G>C - - COL4A6_000063 - - - - Germline - - - - - Yu Sun
?/. - c.952-31C>G r.(=) p.(=) - VUS g.107437848G>C g.108194618G>C - - COL4A6_000063 - - - - Germline - - - - - Yu Sun
-/. - c.952-31C>G r.(=) p.(=) - benign g.107437848G>C g.108194618G>C COL4A6(NM_033641.3):c.949-31C>G - COL4A6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
?/. 20 c.1360T>C r.(?) p.(Ser454Pro) - VUS g.107433691A>G - - - COL4A6_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 23/208 cases - 0 - Lucy Raymond
?/. - c.1363T>C r.(?) p.(Ser455Pro) - VUS g.107433688A>G g.108190458A>G - - COL4A6_000060 - - - - Germline - - - - - Yu Sun
?/. - c.1363T>C r.(?) p.(Ser455Pro) - VUS g.107433688A>G g.108190458A>G - - COL4A6_000060 - - - - Germline - - - - - Yu Sun
-/. - c.1363T>C r.(?) p.(Ser455Pro) - benign g.107433688A>G g.108190458A>G COL4A6(NM_033641.3):c.1360T>C (p.S454P) - COL4A6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 20 c.1379G>T r.(?) p.(Arg460Leu) - VUS g.107433672C>A - - - COL4A6_000002 found once Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - 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 - - - 0 - VKGL-NL_Leiden
?/. 21 c.1430G>A r.(?) p.(Gly477Glu) - VUS g.107431907C>T g.108188677C>T - - COL4A6_000101 - - - - Germline - - - 0 - Judy Savige
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
?/. - 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
?/. - c.1771-70C>T r.(=) p.(=) - VUS g.107430579G>A g.108187349G>A - - COL4A6_000057 - - - - Germline - - - - - Yu Sun
?/. - c.1771-70C>T r.(=) p.(=) - VUS g.107430579G>A g.108187349G>A - - COL4A6_000057 - - - - Germline - - - - - Yu Sun
-/. - 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
?/. - c.2134+67_2134+70del r.(=) p.(=) - VUS g.107423698_107423701del g.108180468_108180471del - - COL4A6_000055 - - - - Germline - - - - - Yu Sun
?/. - c.2134+67_2134+70del r.(=) p.(=) - VUS g.107423698_107423701del g.108180468_108180471del - - COL4A6_000055 - - - - Germline - - - - - Yu Sun
?/. - c.2134+67_2134+72del r.(=) p.(=) - VUS g.107423674_107423679del g.108180444_108180449del - - COL4A6_000071 - - - - Germline - - - - - Yu Sun
?/. - c.2134+69_2134+72del r.(=) p.(=) - VUS g.107423674_107423677del g.108180444_108180447del - - COL4A6_000069 - - - - Germline - - - - - Yu Sun
?/. - c.2134+69_2134+72del r.(=) p.(=) - VUS g.107423674_107423677del g.108180444_108180447del - - COL4A6_000069 - - - - Germline - - - - - Yu Sun
?/. - 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 - - - 0 - VKGL-NL_Leiden
?/. - 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_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - 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_Rotterdam
-?/. - 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
-?/. - 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
?/. - c.2811T>C r.(?) p.(Arg937=) - VUS g.107418906A>G g.108175676A>G - - COL4A6_000049 - - - - Germline - - - - - Yu Sun
?/. - c.2811T>C r.(?) p.(Arg937=) - VUS g.107418906A>G g.108175676A>G - - COL4A6_000049 - - - - Germline - - - - - Yu Sun
-/. - c.2811T>C r.(?) p.(Arg937=) - benign g.107418906A>G g.108175676A>G COL4A6(NM_033641.3):c.2808T>C (p.R936=) - COL4A6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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