| 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.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.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 |
| X | g.108620303G>C | CA413851341 | COL4A5 | c.2554G>C (p.Gly852Arg) n.2010G>C c.2230G>C (p.Gly744Arg) c.127G>C (p.Gly43Arg) c.2569G>C (p.Gly857Arg) c.889G>C (p.Gly297Arg) | |
| X | g.108620303G= | CA2450695942 | COL4A5 | c.2554G= (p.Gly852=) n.2010G= c.2230G= (p.Gly744=) c.127G= (p.Gly43=) c.2569G= (p.Gly857=) c.889G= (p.Gly297=) | |
| X | g.108620303G>T | CA413851340 | COL4A5 | c.2554G>T (p.Gly852Ter) n.2010G>T c.2230G>T (p.Gly744Ter) c.127G>T (p.Gly43Ter) c.2569G>T (p.Gly857Ter) c.889G>T (p.Gly297Ter) | |
| X | g.108620304G>A | CA258709 | COL4A5 | c.2555G>A (p.Gly852Glu) n.2011G>A c.2231G>A (p.Gly744Glu) c.128G>A (p.Gly43Glu) c.2570G>A (p.Gly857Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
| X | g.108620304G>C | CA413851342 | COL4A5 | c.2555G>C (p.Gly852Ala) n.2011G>C c.2231G>C (p.Gly744Ala) c.128G>C (p.Gly43Ala) c.2570G>C (p.Gly857Ala) c.890G>C (p.Gly297Ala) | |
| X | g.108620304G= | CA2450695943 | COL4A5 | c.2555G= (p.Gly852=) n.2011G= c.2231G= (p.Gly744=) c.128G= (p.Gly43=) c.2570G= (p.Gly857=) c.890G= (p.Gly297=) | |
| X | g.108620304G>T | CA413851343 | COL4A5 | c.2555G>T (p.Gly852Val) n.2011G>T c.2231G>T (p.Gly744Val) c.128G>T (p.Gly43Val) c.2570G>T (p.Gly857Val) c.890G>T (p.Gly297Val) | |
| X | g.108620305A>C | CA517924019 | COL4A5 | c.2556A>C (p.Gly852=) n.2012A>C c.2232A>C (p.Gly744=) c.129A>C (p.Gly43=) c.2571A>C (p.Gly857=) c.891A>C (p.Gly297=) | |
| X | g.108620305A>G | CA517924020 | COL4A5 | c.2556A>G (p.Gly852=) n.2012A>G c.2232A>G (p.Gly744=) c.129A>G (p.Gly43=) c.2571A>G (p.Gly857=) c.891A>G (p.Gly297=) | |
| X | g.108620305A>T | CA517924021 | COL4A5 | c.2556A>T (p.Gly852=) n.2012A>T c.2232A>T (p.Gly744=) c.129A>T (p.Gly43=) c.2571A>T (p.Gly857=) c.891A>T (p.Gly297=) | |
| X | g.108620306C>A | CA413851344 | COL4A5 | c.2557C>A (p.Leu853Ile) n.2013C>A c.2233C>A (p.Leu745Ile) c.130C>A (p.Leu44Ile) c.2572C>A (p.Leu858Ile) c.892C>A (p.Leu298Ile) | |
| X | g.108620306C>G | CA413851345 | COL4A5 | c.2557C>G (p.Leu853Val) n.2013C>G c.2233C>G (p.Leu745Val) c.130C>G (p.Leu44Val) c.2572C>G (p.Leu858Val) c.892C>G (p.Leu298Val) | |
| X | g.108620306C>T | CA413851346 | COL4A5 | c.2557C>T (p.Leu853Phe) n.2013C>T c.2233C>T (p.Leu745Phe) c.130C>T (p.Leu44Phe) c.2572C>T (p.Leu858Phe) c.892C>T (p.Leu298Phe) | gnomAD v4 |
| X | g.108620307T>A | CA413851349 | COL4A5 | c.2558T>A (p.Leu853His) n.2014T>A c.2234T>A (p.Leu745His) c.131T>A (p.Leu44His) c.2573T>A (p.Leu858His) c.893T>A (p.Leu298His) | COSMIC COSMIC |
| X | g.108620307T>C | CA413851347 | COL4A5 | c.2558T>C (p.Leu853Pro) n.2014T>C c.2234T>C (p.Leu745Pro) c.131T>C (p.Leu44Pro) c.2573T>C (p.Leu858Pro) c.893T>C (p.Leu298Pro) | |
| X | g.108620307T>G | CA413851348 | COL4A5 | c.2558T>G (p.Leu853Arg) n.2014T>G c.2234T>G (p.Leu745Arg) c.131T>G (p.Leu44Arg) c.2573T>G (p.Leu858Arg) c.893T>G (p.Leu298Arg) | dbSNP |
| X | g.108620307T= | CA2450695944 | COL4A5 | c.2558T= (p.Leu853=) n.2014T= c.2234T= (p.Leu745=) c.131T= (p.Leu44=) c.2573T= (p.Leu858=) c.893T= (p.Leu298=) | |
| X | g.108620308T>A | CA517924029 | COL4A5 | c.2559T>A (p.Leu853=) n.2015T>A c.2235T>A (p.Leu745=) c.132T>A (p.Leu44=) c.2574T>A (p.Leu858=) c.894T>A (p.Leu298=) | |
| X | g.108620308T>C | CA517924033 | COL4A5 | c.2559T>C (p.Leu853=) n.2015T>C c.2235T>C (p.Leu745=) c.132T>C (p.Leu44=) c.2574T>C (p.Leu858=) c.894T>C (p.Leu298=) | ClinVar |
| X | g.108620308T>G | CA517924031 | COL4A5 | c.2559T>G (p.Leu853=) n.2015T>G c.2235T>G (p.Leu745=) c.132T>G (p.Leu44=) c.2574T>G (p.Leu858=) c.894T>G (p.Leu298=) | |
| X | g.108620309G>A | CA413851350 | COL4A5 | c.2560G>A (p.Asp854Asn) n.2016G>A c.2236G>A (p.Asp746Asn) c.133G>A (p.Asp45Asn) c.2575G>A (p.Asp859Asn) c.895G>A (p.Asp299Asn) | |
| X | g.108620309G>C | CA413851351 | COL4A5 | c.2560G>C (p.Asp854His) n.2016G>C c.2236G>C (p.Asp746His) c.133G>C (p.Asp45His) c.2575G>C (p.Asp859His) c.895G>C (p.Asp299His) | |
| X | g.108620309G>T | CA413851352 | COL4A5 | c.2560G>T (p.Asp854Tyr) n.2016G>T c.2236G>T (p.Asp746Tyr) c.133G>T (p.Asp45Tyr) c.2575G>T (p.Asp859Tyr) c.895G>T (p.Asp299Tyr) | |
| X | g.108620310A= | CA2450695945 | COL4A5 | c.2561A= (p.Asp854=) n.2017A= c.2237A= (p.Asp746=) c.134A= (p.Asp45=) c.2576A= (p.Asp859=) c.896A= (p.Asp299=) | |
| X | g.108620310A>C | CA413851353 | COL4A5 | c.2561A>C (p.Asp854Ala) n.2017A>C c.2237A>C (p.Asp746Ala) c.134A>C (p.Asp45Ala) c.2576A>C (p.Asp859Ala) c.896A>C (p.Asp299Ala) | |
| X | g.108620310A>G | CA10488943 | COL4A5 | c.2561A>G (p.Asp854Gly) n.2017A>G c.2237A>G (p.Asp746Gly) c.134A>G (p.Asp45Gly) c.2576A>G (p.Asp859Gly) c.896A>G (p.Asp299Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108620310A>T | CA413851354 | COL4A5 | c.2561A>T (p.Asp854Val) n.2017A>T c.2237A>T (p.Asp746Val) c.134A>T (p.Asp45Val) c.2576A>T (p.Asp859Val) c.896A>T (p.Asp299Val) | |
| X | g.108620311T>A | CA413851355 | COL4A5 | c.2562T>A (p.Asp854Glu) n.2018T>A c.2238T>A (p.Asp746Glu) c.135T>A (p.Asp45Glu) c.2577T>A (p.Asp859Glu) c.897T>A (p.Asp299Glu) | |
| X | g.108620311T>C | CA10488944 | COL4A5 | c.2562T>C (p.Asp854=) n.2018T>C c.2238T>C (p.Asp746=) c.135T>C (p.Asp45=) c.2577T>C (p.Asp859=) c.897T>C (p.Asp299=) | dbSNP ExAC gnomAD v4 |
| X | g.108620311T>G | CA413851356 | COL4A5 | c.2562T>G (p.Asp854Glu) n.2018T>G c.2238T>G (p.Asp746Glu) c.135T>G (p.Asp45Glu) c.2577T>G (p.Asp859Glu) c.897T>G (p.Asp299Glu) | |
| X | g.108620311T= | CA2450695946 | COL4A5 | c.2562T= (p.Asp854=) n.2018T= c.2238T= (p.Asp746=) c.135T= (p.Asp45=) c.2577T= (p.Asp859=) c.897T= (p.Asp299=) | |
| X | g.108620312G>A | CA413851357 | COL4A5 | c.2563G>A (p.Val855Ile) n.2019G>A c.2239G>A (p.Val747Ile) c.136G>A (p.Val46Ile) c.2578G>A (p.Val860Ile) c.898G>A (p.Val300Ile) | |
| X | g.108620312G>C | CA413851358 | COL4A5 | c.2563G>C (p.Val855Leu) n.2019G>C c.2239G>C (p.Val747Leu) c.136G>C (p.Val46Leu) c.2578G>C (p.Val860Leu) c.898G>C (p.Val300Leu) | |
| X | g.108620312G>T | CA413851359 | COL4A5 | c.2563G>T (p.Val855Phe) n.2019G>T c.2239G>T (p.Val747Phe) c.136G>T (p.Val46Phe) c.2578G>T (p.Val860Phe) c.898G>T (p.Val300Phe) | |
| X | g.108620313T>A | CA413851360 | COL4A5 | c.2564T>A (p.Val855Asp) n.2020T>A c.2240T>A (p.Val747Asp) c.137T>A (p.Val46Asp) c.2579T>A (p.Val860Asp) c.899T>A (p.Val300Asp) | |
| X | g.108620313T>C | CA413851362 | COL4A5 | c.2564T>C (p.Val855Ala) n.2020T>C c.2240T>C (p.Val747Ala) c.137T>C (p.Val46Ala) c.2579T>C (p.Val860Ala) c.899T>C (p.Val300Ala) | |
| X | g.108620313T>G | CA413851361 | COL4A5 | c.2564T>G (p.Val855Gly) n.2020T>G c.2240T>G (p.Val747Gly) c.137T>G (p.Val46Gly) c.2579T>G (p.Val860Gly) c.899T>G (p.Val300Gly) | |
| X | g.108620314T>A | CA517924042 | COL4A5 | c.2565T>A (p.Val855=) n.2021T>A c.2241T>A (p.Val747=) c.138T>A (p.Val46=) c.2580T>A (p.Val860=) c.900T>A (p.Val300=) | |
| X | g.108620314T>C | CA517924044 | COL4A5 | c.2565T>C (p.Val855=) n.2021T>C c.2241T>C (p.Val747=) c.138T>C (p.Val46=) c.2580T>C (p.Val860=) c.900T>C (p.Val300=) | |
| X | g.108620314T>G | CA517924045 | COL4A5 | c.2565T>G (p.Val855=) n.2021T>G c.2241T>G (p.Val747=) c.138T>G (p.Val46=) c.2580T>G (p.Val860=) c.900T>G (p.Val300=) | |
| X | g.108620315C>A | CA413851363 | COL4A5 | c.2566C>A (p.Pro856Thr) n.2022C>A c.2242C>A (p.Pro748Thr) c.139C>A (p.Pro47Thr) c.2581C>A (p.Pro861Thr) c.901C>A (p.Pro301Thr) | |
| X | g.108620315C>G | CA413851364 | COL4A5 | c.2566C>G (p.Pro856Ala) n.2022C>G c.2242C>G (p.Pro748Ala) c.139C>G (p.Pro47Ala) c.2581C>G (p.Pro861Ala) c.901C>G (p.Pro301Ala) | |
| X | g.108620315C>T | CA413851365 | COL4A5 | c.2566C>T (p.Pro856Ser) n.2022C>T c.2242C>T (p.Pro748Ser) c.139C>T (p.Pro47Ser) c.2581C>T (p.Pro861Ser) c.901C>T (p.Pro301Ser) | |
| X | g.108620316del | CA2695235216 | COL4A5 | c.2567del (p.Pro856GlnfsTer19) n.2023del c.2243del (p.Pro748GlnfsTer19) c.140del (p.Pro47GlnfsTer19) c.2582del (p.Pro861GlnfsTer19) c.902del (p.Pro301GlnfsTer19) |