| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620257_108620303delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | CA2450695923 | COL4A5 | c.2510-2_2554delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG n.1966-2_2010delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2186-2_2230delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.83-2_127delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2525-2_2569delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.845-2_889delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | |
| X | g.108620259_108620304del | CA891843941 | COL4A5 | c.2510_2555del n.1966_2011del c.2186_2231del c.83_128del c.2525_2570del c.845_890del | |
| X | g.108620289_108620312del | CA2580100187 | COL4A5 | c.2540_2563del (p.Asp847_Asp854del) n.1996_2019del c.2216_2239del (p.Asp739_Asp746del) c.113_136del (p.Asp38_Asp45del) c.2555_2578del (p.Asp852_Asp859del) c.875_898del (p.Asp292_Asp299del) | ClinVar |
| X | g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT | CA2450695936 | COL4A5 | c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp847=) n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp739=) c.113_137delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp38=) c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp852=) c.875_899delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp292=) | |
| X | g.108620290T>A | CA413851313 | COL4A5 | c.2541T>A (p.Asp847Glu) n.1997T>A c.2217T>A (p.Asp739Glu) c.114T>A (p.Asp38Glu) c.2556T>A (p.Asp852Glu) c.876T>A (p.Asp292Glu) | |
| X | g.108620290T>C | CA517923984 | COL4A5 | c.2541T>C (p.Asp847=) n.1997T>C c.2217T>C (p.Asp739=) c.114T>C (p.Asp38=) c.2556T>C (p.Asp852=) c.876T>C (p.Asp292=) | |
| X | g.108620290T>G | CA413851314 | COL4A5 | c.2541T>G (p.Asp847Glu) n.1997T>G c.2217T>G (p.Asp739Glu) c.114T>G (p.Asp38Glu) c.2556T>G (p.Asp852Glu) c.876T>G (p.Asp292Glu) | |
| X | g.108620299_108620322del | CA258704 | COL4A5 | c.2550_2573del (p.Pro851_Pro858del) n.2006_2029del c.2226_2249del (p.Pro743_Pro750del) c.123_146del (p.Pro42_Pro49del) c.2565_2588del (p.Pro856_Pro863del) c.885_908del (p.Pro296_Pro303del) | dbSNP |
| X | g.108620291C>A | CA413851317 | COL4A5 | c.2542C>A (p.Pro848Thr) n.1998C>A c.2218C>A (p.Pro740Thr) c.115C>A (p.Pro39Thr) c.2557C>A (p.Pro853Thr) c.877C>A (p.Pro293Thr) | |
| X | g.108620291C>G | CA413851316 | COL4A5 | c.2542C>G (p.Pro848Ala) n.1998C>G c.2218C>G (p.Pro740Ala) c.115C>G (p.Pro39Ala) c.2557C>G (p.Pro853Ala) c.877C>G (p.Pro293Ala) | |
| X | g.108620291C>T | CA413851315 | COL4A5 | c.2542C>T (p.Pro848Ser) n.1998C>T c.2218C>T (p.Pro740Ser) c.115C>T (p.Pro39Ser) c.2557C>T (p.Pro853Ser) c.877C>T (p.Pro293Ser) | COSMIC COSMIC |
| X | g.108620292C>A | CA413851318 | COL4A5 | c.2543C>A (p.Pro848Gln) n.1999C>A c.2219C>A (p.Pro740Gln) c.116C>A (p.Pro39Gln) c.2558C>A (p.Pro853Gln) c.878C>A (p.Pro293Gln) | COSMIC |
| X | g.108620292C>G | CA413851319 | COL4A5 | c.2543C>G (p.Pro848Arg) n.1999C>G c.2219C>G (p.Pro740Arg) c.116C>G (p.Pro39Arg) c.2558C>G (p.Pro853Arg) c.878C>G (p.Pro293Arg) | |
| X | g.108620292C>T | CA413851320 | COL4A5 | c.2543C>T (p.Pro848Leu) n.1999C>T c.2219C>T (p.Pro740Leu) c.116C>T (p.Pro39Leu) c.2558C>T (p.Pro853Leu) c.878C>T (p.Pro293Leu) | ClinVar |
| X | g.108620293A= | CA2450695937 | COL4A5 | c.2544A= (p.Pro848=) n.2000A= c.2220A= (p.Pro740=) c.117A= (p.Pro39=) c.2559A= (p.Pro853=) c.879A= (p.Pro293=) | |
| X | g.108620293A>C | CA517923986 | COL4A5 | c.2544A>C (p.Pro848=) n.2000A>C c.2220A>C (p.Pro740=) c.117A>C (p.Pro39=) c.2559A>C (p.Pro853=) c.879A>C (p.Pro293=) | |
| X | g.108620293A>G | CA10488942 | COL4A5 | c.2544A>G (p.Pro848=) n.2000A>G c.2220A>G (p.Pro740=) c.117A>G (p.Pro39=) c.2559A>G (p.Pro853=) c.879A>G (p.Pro293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620293A>T | CA517923988 | COL4A5 | c.2544A>T (p.Pro848=) n.2000A>T c.2220A>T (p.Pro740=) c.117A>T (p.Pro39=) c.2559A>T (p.Pro853=) c.879A>T (p.Pro293=) | |
| X | g.108620294G>A | CA413851321 | COL4A5 | c.2545G>A (p.Gly849Arg) n.2001G>A c.2221G>A (p.Gly741Arg) c.118G>A (p.Gly40Arg) c.2560G>A (p.Gly854Arg) c.880G>A (p.Gly294Arg) | |
| X | g.108620294G>C | CA413851322 | COL4A5 | c.2545G>C (p.Gly849Arg) n.2001G>C c.2221G>C (p.Gly741Arg) c.118G>C (p.Gly40Arg) c.2560G>C (p.Gly854Arg) c.880G>C (p.Gly294Arg) | |
| X | g.108620294G>T | CA413851323 | COL4A5 | c.2545G>T (p.Gly849Ter) n.2001G>T c.2221G>T (p.Gly741Ter) c.118G>T (p.Gly40Ter) c.2560G>T (p.Gly854Ter) c.880G>T (p.Gly294Ter) | |
| X | g.108620295G>A | CA413851325 | COL4A5 | c.2546G>A (p.Gly849Glu) n.2002G>A c.2222G>A (p.Gly741Glu) c.119G>A (p.Gly40Glu) c.2561G>A (p.Gly854Glu) c.881G>A (p.Gly294Glu) | |
| X | g.108620295G>C | CA413851326 | COL4A5 | c.2546G>C (p.Gly849Ala) n.2002G>C c.2222G>C (p.Gly741Ala) c.119G>C (p.Gly40Ala) c.2561G>C (p.Gly854Ala) c.881G>C (p.Gly294Ala) | |
| X | g.108620295G= | CA2450695938 | COL4A5 | c.2546G= (p.Gly849=) n.2002G= c.2222G= (p.Gly741=) c.119G= (p.Gly40=) c.2561G= (p.Gly854=) c.881G= (p.Gly294=) | |
| X | g.108620295G>T | CA413851327 | COL4A5 | c.2546G>T (p.Gly849Val) n.2002G>T c.2222G>T (p.Gly741Val) c.119G>T (p.Gly40Val) c.2561G>T (p.Gly854Val) c.881G>T (p.Gly294Val) | |
| X | g.108620296A= | CA2450695939 | COL4A5 | c.2547A= (p.Gly849=) n.2003A= c.2223A= (p.Gly741=) c.120A= (p.Gly40=) c.2562A= (p.Gly854=) c.882A= (p.Gly294=) | |
| X | g.108620296A>C | CA517923990 | COL4A5 | c.2547A>C (p.Gly849=) n.2003A>C c.2223A>C (p.Gly741=) c.120A>C (p.Gly40=) c.2562A>C (p.Gly854=) c.882A>C (p.Gly294=) | |
| X | g.108620296A>G | CA517923991 | COL4A5 | c.2547A>G (p.Gly849=) n.2003A>G c.2223A>G (p.Gly741=) c.120A>G (p.Gly40=) c.2562A>G (p.Gly854=) c.882A>G (p.Gly294=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108620296A>T | CA517923994 | COL4A5 | c.2547A>T (p.Gly849=) n.2003A>T c.2223A>T (p.Gly741=) c.120A>T (p.Gly40=) c.2562A>T (p.Gly854=) c.882A>T (p.Gly294=) | ClinVar |
| X | g.108620297C>A | CA413851328 | COL4A5 | c.2548C>A (p.Pro850Thr) n.2004C>A c.2224C>A (p.Pro742Thr) c.121C>A (p.Pro41Thr) c.2563C>A (p.Pro855Thr) c.883C>A (p.Pro295Thr) | |
| X | g.108620297C= | CA2450695940 | COL4A5 | c.2548C= (p.Pro850=) n.2004C= c.2224C= (p.Pro742=) c.121C= (p.Pro41=) c.2563C= (p.Pro855=) c.883C= (p.Pro295=) | |
| X | g.108620297C>G | CA413851329 | COL4A5 | c.2548C>G (p.Pro850Ala) n.2004C>G c.2224C>G (p.Pro742Ala) c.121C>G (p.Pro41Ala) c.2563C>G (p.Pro855Ala) c.883C>G (p.Pro295Ala) | |
| X | g.108620297C>T | CA413851330 | COL4A5 | c.2548C>T (p.Pro850Ser) n.2004C>T c.2224C>T (p.Pro742Ser) c.121C>T (p.Pro41Ser) c.2563C>T (p.Pro855Ser) c.883C>T (p.Pro295Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620298C>A | CA413851332 | COL4A5 | c.2549C>A (p.Pro850His) n.2005C>A c.2225C>A (p.Pro742His) c.122C>A (p.Pro41His) c.2564C>A (p.Pro855His) c.884C>A (p.Pro295His) | |
| X | g.108620298C>G | CA413851333 | COL4A5 | c.2549C>G (p.Pro850Arg) n.2005C>G c.2225C>G (p.Pro742Arg) c.122C>G (p.Pro41Arg) c.2564C>G (p.Pro855Arg) c.884C>G (p.Pro295Arg) | |
| X | g.108620298C>T | CA413851331 | COL4A5 | c.2549C>T (p.Pro850Leu) n.2005C>T c.2225C>T (p.Pro742Leu) c.122C>T (p.Pro41Leu) c.2564C>T (p.Pro855Leu) c.884C>T (p.Pro295Leu) | |
| X | g.108620299T>A | CA517923997 | COL4A5 | c.2550T>A (p.Pro850=) n.2006T>A c.2226T>A (p.Pro742=) c.123T>A (p.Pro41=) c.2565T>A (p.Pro855=) c.885T>A (p.Pro295=) | |
| X | g.108620299T>C | CA517923998 | COL4A5 | c.2550T>C (p.Pro850=) n.2006T>C c.2226T>C (p.Pro742=) c.123T>C (p.Pro41=) c.2565T>C (p.Pro855=) c.885T>C (p.Pro295=) | |
| X | g.108620299T>G | CA517924000 | COL4A5 | c.2550T>G (p.Pro850=) n.2006T>G c.2226T>G (p.Pro742=) c.123T>G (p.Pro41=) c.2565T>G (p.Pro855=) c.885T>G (p.Pro295=) | |
| X | g.108620300C>A | CA413851336 | COL4A5 | c.2551C>A (p.Pro851Thr) n.2007C>A c.2227C>A (p.Pro743Thr) c.124C>A (p.Pro42Thr) c.2566C>A (p.Pro856Thr) c.886C>A (p.Pro296Thr) | |
| X | g.108620300C>G | CA413851334 | COL4A5 | c.2551C>G (p.Pro851Ala) n.2007C>G c.2227C>G (p.Pro743Ala) c.124C>G (p.Pro42Ala) c.2566C>G (p.Pro856Ala) c.886C>G (p.Pro296Ala) | |
| X | g.108620300C>T | CA413851335 | COL4A5 | c.2551C>T (p.Pro851Ser) n.2007C>T c.2227C>T (p.Pro743Ser) c.124C>T (p.Pro42Ser) c.2566C>T (p.Pro856Ser) c.886C>T (p.Pro296Ser) | COSMIC COSMIC |
| X | g.108620301C>A | CA413851337 | COL4A5 | c.2552C>A (p.Pro851His) n.2008C>A c.2228C>A (p.Pro743His) c.125C>A (p.Pro42His) c.2567C>A (p.Pro856His) c.887C>A (p.Pro296His) | |
| X | g.108620301C= | CA2450695941 | COL4A5 | c.2552C= (p.Pro851=) n.2008C= c.2228C= (p.Pro743=) c.125C= (p.Pro42=) c.2567C= (p.Pro856=) c.887C= (p.Pro296=) | |
| X | g.108620301C>G | CA413851338 | COL4A5 | c.2552C>G (p.Pro851Arg) n.2008C>G c.2228C>G (p.Pro743Arg) c.125C>G (p.Pro42Arg) c.2567C>G (p.Pro856Arg) c.887C>G (p.Pro296Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108620301C>T | CA413851339 | COL4A5 | c.2552C>T (p.Pro851Leu) n.2008C>T c.2228C>T (p.Pro743Leu) c.125C>T (p.Pro42Leu) c.2567C>T (p.Pro856Leu) c.887C>T (p.Pro296Leu) | |
| X | g.108620302T>A | CA517924007 | COL4A5 | c.2553T>A (p.Pro851=) n.2009T>A c.2229T>A (p.Pro743=) c.126T>A (p.Pro42=) c.2568T>A (p.Pro856=) c.888T>A (p.Pro296=) | |
| X | g.108620302T>C | CA517924011 | COL4A5 | c.2553T>C (p.Pro851=) n.2009T>C c.2229T>C (p.Pro743=) c.126T>C (p.Pro42=) c.2568T>C (p.Pro856=) c.888T>C (p.Pro296=) | |
| X | g.108620302T>G | CA517924009 | COL4A5 | c.2553T>G (p.Pro851=) n.2009T>G c.2229T>G (p.Pro743=) c.126T>G (p.Pro42=) c.2568T>G (p.Pro856=) c.888T>G (p.Pro296=) | |
| X | g.108620303G>A | CA258707 | COL4A5 | c.2554G>A (p.Gly852Arg) n.2010G>A c.2230G>A (p.Gly744Arg) c.127G>A (p.Gly43Arg) c.2569G>A (p.Gly857Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |