Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108573527A= | CA2450680760 | COL4A5 | c.466-47A= (n.466-47A=) c.142-47A= (n.142-47A=) c.481-47A= (n.481-47A=) | |
X | g.108573527A>G | CA643749607 | COL4A5 | c.466-47A>G (n.466-47A>G) c.142-47A>G (n.142-47A>G) c.481-47A>G (n.481-47A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573528T>C | CA2694411123 | COL4A5 | c.466-46T>C (n.466-46T>C) c.142-46T>C (n.142-46T>C) c.481-46T>C (n.481-46T>C) | gnomAD v4 |
X | g.108573529G>A | CA869820157 | COL4A5 | c.466-45G>A (n.466-45G>A) c.142-45G>A (n.142-45G>A) c.481-45G>A (n.481-45G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573529G= | CA2450680761 | COL4A5 | c.466-45G= (n.466-45G=) c.142-45G= (n.142-45G=) c.481-45G= (n.481-45G=) | |
X | g.108573530T>A | CA10488475 | COL4A5 | c.466-44T>A (n.466-44T>A) c.142-44T>A (n.142-44T>A) c.481-44T>A (n.481-44T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573530T= | CA2450680762 | COL4A5 | c.466-44T= (n.466-44T=) c.142-44T= (n.142-44T=) c.481-44T= (n.481-44T=) | |
X | g.108573534_108573540delinsATAACTG | CA2450680763 | COL4A5 | c.466-40_466-34delinsATAACTG (n.466-40_466-34delinsATAACTG) c.142-40_142-34delinsATAACTG (n.142-40_142-34delinsATAACTG) c.481-40_481-34delinsATAACTG (n.481-40_481-34delinsATAACTG) | |
X | g.108573536_108573541del | CA2450680764 | COL4A5 | c.466-38_466-33del (n.466-38_466-33del) c.142-38_142-33del (n.142-38_142-33del) c.481-38_481-33del (n.481-38_481-33del) | dbSNP |
X | g.108573537A= | CA2450680766 | COL4A5 | c.466-37A= (n.466-37A=) c.142-37A= (n.142-37A=) c.481-37A= (n.481-37A=) | |
X | g.108573537A>G | CA2694411127 | COL4A5 | c.466-37A>G (n.466-37A>G) c.142-37A>G (n.142-37A>G) c.481-37A>G (n.481-37A>G) | gnomAD v4 |
X | g.108573537A>T | CA10488476 | COL4A5 | c.466-37A>T (n.466-37A>T) c.142-37A>T (n.142-37A>T) c.481-37A>T (n.481-37A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573538C>A | CA2694411131 | COL4A5 | c.466-36C>A (n.466-36C>A) c.142-36C>A (n.142-36C>A) c.481-36C>A (n.481-36C>A) | gnomAD v4 |
X | g.108573542_108573543del | CA2579675870 | COL4A5 | c.466-32_466-31del (n.466-32_466-31del) c.142-32_142-31del (n.142-32_142-31del) c.481-32_481-31del (n.481-32_481-31del) | gnomAD v4 |
X | g.108573540G>A | CA2694411132 | COL4A5 | c.466-34G>A (n.466-34G>A) c.142-34G>A (n.142-34G>A) c.481-34G>A (n.481-34G>A) | gnomAD v4 |
X | g.108573542G>A | CA2694411134 | COL4A5 | c.466-32G>A (n.466-32G>A) c.142-32G>A (n.142-32G>A) c.481-32G>A (n.481-32G>A) | gnomAD v4 |
X | g.108573542G>T | CA2579675871 | COL4A5 | c.466-32G>T (n.466-32G>T) c.142-32G>T (n.142-32G>T) c.481-32G>T (n.481-32G>T) | |
X | g.108573544del | CA2562528176 | COL4A5 | c.466-30del (n.466-30del) c.142-30del (n.142-30del) c.481-30del (n.481-30del) | |
X | g.108573544C>A | CA2694411138 | COL4A5 | c.466-30C>A (n.466-30C>A) c.142-30C>A (n.142-30C>A) c.481-30C>A (n.481-30C>A) | gnomAD v4 |
X | g.108573544C>T | CA2694411139 | COL4A5 | c.466-30C>T (n.466-30C>T) c.142-30C>T (n.142-30C>T) c.481-30C>T (n.481-30C>T) | gnomAD v4 |
X | g.108573545T>A | CA2579675872 | COL4A5 | c.466-29T>A (n.466-29T>A) c.142-29T>A (n.142-29T>A) c.481-29T>A (n.481-29T>A) | |
X | g.108573545T>C | CA2694411140 | COL4A5 | c.466-29T>C (n.466-29T>C) c.142-29T>C (n.142-29T>C) c.481-29T>C (n.481-29T>C) | gnomAD v4 |
X | g.108573546T>C | CA2694411141 | COL4A5 | c.466-28T>C (n.466-28T>C) c.142-28T>C (n.142-28T>C) c.481-28T>C (n.481-28T>C) | gnomAD v4 |
X | g.108573547A>G | CA2694411143 | COL4A5 | c.466-27A>G (n.466-27A>G) c.142-27A>G (n.142-27A>G) c.481-27A>G (n.481-27A>G) | gnomAD v4 |
X | g.108573547A>T | CA2579675873 | COL4A5 | c.466-27A>T (n.466-27A>T) c.142-27A>T (n.142-27A>T) c.481-27A>T (n.481-27A>T) | gnomAD v4 |
X | g.108573548_108573549del | CA2694411142 | COL4A5 | c.466-26_466-25del (n.466-26_466-25del) c.142-26_142-25del (n.142-26_142-25del) c.481-26_481-25del (n.481-26_481-25del) | gnomAD v4 |
X | g.108573548G= | CA2450680767 | COL4A5 | c.466-26G= (n.466-26G=) c.142-26G= (n.142-26G=) c.481-26G= (n.481-26G=) | |
X | g.108573548G>T | CA643749608 | COL4A5 | c.466-26G>T (n.466-26G>T) c.142-26G>T (n.142-26G>T) c.481-26G>T (n.481-26G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573549A>G | CA2694411147 | COL4A5 | c.466-25A>G (n.466-25A>G) c.142-25A>G (n.142-25A>G) c.481-25A>G (n.481-25A>G) | gnomAD v4 |
X | g.108573551C>A | CA2694411148 | COL4A5 | c.466-23C>A (n.466-23C>A) c.142-23C>A (n.142-23C>A) c.481-23C>A (n.481-23C>A) | gnomAD v4 |
X | g.108573551C>T | CA2694411149 | COL4A5 | c.466-23C>T (n.466-23C>T) c.142-23C>T (n.142-23C>T) c.481-23C>T (n.481-23C>T) | gnomAD v4 |
X | g.108573552T>A | CA2694411150 | COL4A5 | c.466-22T>A (n.466-22T>A) c.142-22T>A (n.142-22T>A) c.481-22T>A (n.481-22T>A) | gnomAD v4 |
X | g.108573553T>C | CA2694411151 | COL4A5 | c.466-21T>C (n.466-21T>C) c.142-21T>C (n.142-21T>C) c.481-21T>C (n.481-21T>C) | gnomAD v4 |
X | g.108573554C>A | CA2694411152 | COL4A5 | c.466-20C>A (n.466-20C>A) c.142-20C>A (n.142-20C>A) c.481-20C>A (n.481-20C>A) | gnomAD v4 |
X | g.108573554C>T | CA2694411153 | COL4A5 | c.466-20C>T (n.466-20C>T) c.142-20C>T (n.142-20C>T) c.481-20C>T (n.481-20C>T) | gnomAD v4 |
X | g.108573555C>A | CA2694411154 | COL4A5 | c.466-19C>A (n.466-19C>A) c.142-19C>A (n.142-19C>A) c.481-19C>A (n.481-19C>A) | gnomAD v4 |
X | g.108573555C>T | CA2694411155 | COL4A5 | c.466-19C>T (n.466-19C>T) c.142-19C>T (n.142-19C>T) c.481-19C>T (n.481-19C>T) | gnomAD v4 |
X | g.108573556A>G | CA2694411156 | COL4A5 | c.466-18A>G (n.466-18A>G) c.142-18A>G (n.142-18A>G) c.481-18A>G (n.481-18A>G) | gnomAD v4 |
X | g.108573557T>C | CA643749609 | COL4A5 | c.466-17T>C (n.466-17T>C) c.142-17T>C (n.142-17T>C) c.481-17T>C (n.481-17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573557T>G | CA258252 | COL4A5 | c.466-17T>G (n.466-17T>G) c.142-17T>G (n.142-17T>G) c.481-17T>G (n.481-17T>G) | dbSNP |
X | g.108573557T= | CA2450680770 | COL4A5 | c.466-17T= (n.466-17T=) c.142-17T= (n.142-17T=) c.481-17T= (n.481-17T=) | |
X | g.108573558T>C | CA2694411157 | COL4A5 | c.466-16T>C (n.466-16T>C) c.142-16T>C (n.142-16T>C) c.481-16T>C (n.481-16T>C) | gnomAD v4 |
X | g.108573561T>A | CA891843907 | COL4A5 | c.466-13T>A (n.466-13T>A) c.142-13T>A (n.142-13T>A) c.481-13T>A (n.481-13T>A) | ClinVar dbSNP |
X | g.108573561T= | CA2450680771 | COL4A5 | c.466-13T= (n.466-13T=) c.142-13T= (n.142-13T=) c.481-13T= (n.481-13T=) | |
X | g.108573562G>A | CA258253 | COL4A5 | c.466-12G>A (n.466-12G>A) c.142-12G>A (n.142-12G>A) c.481-12G>A (n.481-12G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108573562G= | CA2450680773 | COL4A5 | c.466-12G= (n.466-12G=) c.142-12G= (n.142-12G=) c.481-12G= (n.481-12G=) | |
X | g.108573563G>A | CA2694411158 | COL4A5 | c.466-11G>A (n.466-11G>A) c.142-11G>A (n.142-11G>A) c.481-11G>A (n.481-11G>A) | gnomAD v4 |
X | g.108573564C>A | CA2579675874 | COL4A5 | c.466-10C>A (n.466-10C>A) c.142-10C>A (n.142-10C>A) c.481-10C>A (n.481-10C>A) | gnomAD v4 |
X | g.108573564C= | CA2450680709 | COL4A5 | c.466-10C= (n.466-10C=) c.142-10C= (n.142-10C=) c.481-10C= (n.481-10C=) | |
X | g.108573564C>T | CA1136177481 | COL4A5 | c.466-10C>T (n.466-10C>T) c.142-10C>T (n.142-10C>T) c.481-10C>T (n.481-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573565T>C | CA2694411159 | COL4A5 | c.466-9T>C (n.466-9T>C) c.142-9T>C (n.142-9T>C) c.481-9T>C (n.481-9T>C) | gnomAD v4 |
X | g.108573566T>C | CA2694411160 | COL4A5 | c.466-8T>C (n.466-8T>C) c.142-8T>C (n.142-8T>C) c.481-8T>C (n.481-8T>C) | gnomAD v4 |
X | g.108573567C>A | CA1136177487 | COL4A5 | c.466-7C>A (n.466-7C>A) c.142-7C>A (n.142-7C>A) c.481-7C>A (n.481-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573567C= | CA2450680710 | COL4A5 | c.466-7C= (n.466-7C=) c.142-7C= (n.142-7C=) c.481-7C= (n.481-7C=) | |
X | g.108573567C>T | CA643749610 | COL4A5 | c.466-7C>T (n.466-7C>T) c.142-7C>T (n.142-7C>T) c.481-7C>T (n.481-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108573568T>C | CA645608361 | COL4A5 | c.466-6T>C (n.466-6T>C) c.142-6T>C (n.142-6T>C) c.481-6T>C (n.481-6T>C) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108573568T= | CA2450680711 | COL4A5 | c.466-6T= (n.466-6T=) c.142-6T= (n.142-6T=) c.481-6T= (n.481-6T=) | |
X | g.108573571del | CA2579675875 | COL4A5 | c.466-3del (n.466-3del) c.142-3del (n.142-3del) c.481-3del (n.481-3del) | gnomAD v4 |
X | g.108573570T>C | CA2694411161 | COL4A5 | c.466-4T>C (n.466-4T>C) c.142-4T>C (n.142-4T>C) c.481-4T>C (n.481-4T>C) | gnomAD v4 |
X | g.108573571T>A | CA2694411162 | COL4A5 | c.466-3T>A (n.466-3T>A) c.142-3T>A (n.142-3T>A) c.481-3T>A (n.481-3T>A) | gnomAD v4 |
X | g.108573571T>C | CA2694411163 | COL4A5 | c.466-3T>C (n.466-3T>C) c.142-3T>C (n.142-3T>C) c.481-3T>C (n.481-3T>C) | gnomAD v4 |
X | g.108573572A= | CA2450680712 | COL4A5 | c.466-2A= (n.466-2A=) c.142-2A= (n.142-2A=) c.481-2A= (n.481-2A=) | |
X | g.108573572A>C | CA413920681 | COL4A5 | c.466-2A>C (n.466-2A>C) c.142-2A>C (n.142-2A>C) c.481-2A>C (n.481-2A>C) | |
X | g.108573572A>G | CA258254 | COL4A5 | c.466-2A>G (n.466-2A>G) c.142-2A>G (n.142-2A>G) c.481-2A>G (n.481-2A>G) | dbSNP gnomAD v4 |
X | g.108573572A>T | CA413920685 | COL4A5 | c.466-2A>T (n.466-2A>T) c.142-2A>T (n.142-2A>T) c.481-2A>T (n.481-2A>T) | |
X | g.108573573G>A | CA413920692 | COL4A5 | c.466-1G>A (n.466-1G>A) c.142-1G>A (n.142-1G>A) c.481-1G>A (n.481-1G>A) | |
X | g.108573573G>C | CA413920693 | COL4A5 | c.466-1G>C (n.466-1G>C) c.142-1G>C (n.142-1G>C) c.481-1G>C (n.481-1G>C) | ClinVar dbSNP |
X | g.108573573G>T | CA413920689 | COL4A5 | c.466-1G>T (n.466-1G>T) c.142-1G>T (n.142-1G>T) c.481-1G>T (n.481-1G>T) | |
X | g.108573574G>A | CA413920699 | COL4A5 | c.466G>A (p.Gly156Ser) c.142G>A (p.Gly48Ser) c.481G>A (p.Gly161Ser) | |
X | g.108573574G>C | CA413920697 | COL4A5 | c.466G>C (p.Gly156Arg) c.142G>C (p.Gly48Arg) c.481G>C (p.Gly161Arg) | ClinVar dbSNP |
X | g.108573574G>T | CA413920702 | COL4A5 | c.466G>T (p.Gly156Cys) c.142G>T (p.Gly48Cys) c.481G>T (p.Gly161Cys) | |
X | g.108573575G>A | CA413920705 | COL4A5 | c.467G>A (p.Gly156Asp) c.143G>A (p.Gly48Asp) c.482G>A (p.Gly161Asp) | ClinVar COSMIC |
X | g.108573575G>C | CA413920711 | COL4A5 | c.467G>C (p.Gly156Ala) c.143G>C (p.Gly48Ala) c.482G>C (p.Gly161Ala) | |
X | g.108573575G= | CA2450680713 | COL4A5 | c.467G= (p.Gly156=) c.143G= (p.Gly48=) c.482G= (p.Gly161=) | |
X | g.108573575G>T | CA413920707 | COL4A5 | c.467G>T (p.Gly156Val) c.143G>T (p.Gly48Val) c.482G>T (p.Gly161Val) | ClinVar dbSNP |
X | g.108573576T>A | CA517991591 | COL4A5 | c.468T>A (p.Gly156=) c.144T>A (p.Gly48=) c.483T>A (p.Gly161=) | |
X | g.108573576T>C | CA517991592 | COL4A5 | c.468T>C (p.Gly156=) c.144T>C (p.Gly48=) c.483T>C (p.Gly161=) | |
X | g.108573576T>G | CA517991593 | COL4A5 | c.468T>G (p.Gly156=) c.144T>G (p.Gly48=) c.483T>G (p.Gly161=) | |
X | g.108573577G>A | CA413920714 | COL4A5 | c.469G>A (p.Glu157Lys) c.145G>A (p.Glu49Lys) c.484G>A (p.Glu162Lys) | gnomAD v4 |
X | g.108573577G>C | CA413920716 | COL4A5 | c.469G>C (p.Glu157Gln) c.145G>C (p.Glu49Gln) c.484G>C (p.Glu162Gln) | |
X | g.108573577G>T | CA413920718 | COL4A5 | c.469G>T (p.Glu157Ter) c.145G>T (p.Glu49Ter) c.484G>T (p.Glu162Ter) | ClinVar |
X | g.108573578A>C | CA413920723 | COL4A5 | c.470A>C (p.Glu157Ala) c.146A>C (p.Glu49Ala) c.485A>C (p.Glu162Ala) | |
X | g.108573578A>G | CA413920725 | COL4A5 | c.470A>G (p.Glu157Gly) c.146A>G (p.Glu49Gly) c.485A>G (p.Glu162Gly) | |
X | g.108573578A>T | CA413920728 | COL4A5 | c.470A>T (p.Glu157Val) c.146A>T (p.Glu49Val) c.485A>T (p.Glu162Val) | |
X | g.108573579A>C | CA413920731 | COL4A5 | c.471A>C (p.Glu157Asp) c.147A>C (p.Glu49Asp) c.486A>C (p.Glu162Asp) | |
X | g.108573579A>G | CA517991594 | COL4A5 | c.471A>G (p.Glu157=) c.147A>G (p.Glu49=) c.486A>G (p.Glu162=) | |
X | g.108573579A>T | CA413920732 | COL4A5 | c.471A>T (p.Glu157Asp) c.147A>T (p.Glu49Asp) c.486A>T (p.Glu162Asp) | |
X | g.108573580C>A | CA413920735 | COL4A5 | c.472C>A (p.Pro158Thr) c.148C>A (p.Pro50Thr) c.487C>A (p.Pro163Thr) | gnomAD v4 |
X | g.108573580C>G | CA413920738 | COL4A5 | c.472C>G (p.Pro158Ala) c.148C>G (p.Pro50Ala) c.487C>G (p.Pro163Ala) | |
X | g.108573580C>T | CA413920740 | COL4A5 | c.472C>T (p.Pro158Ser) c.148C>T (p.Pro50Ser) c.487C>T (p.Pro163Ser) | |
X | g.108573581C>A | CA413920748 | COL4A5 | c.473C>A (p.Pro158Gln) c.149C>A (p.Pro50Gln) c.488C>A (p.Pro163Gln) | |
X | g.108573581C>G | CA413920743 | COL4A5 | c.473C>G (p.Pro158Arg) c.149C>G (p.Pro50Arg) c.488C>G (p.Pro163Arg) | gnomAD v4 |
X | g.108573581C>T | CA413920744 | COL4A5 | c.473C>T (p.Pro158Leu) c.149C>T (p.Pro50Leu) c.488C>T (p.Pro163Leu) | |
X | g.108573582A>C | CA517991595 | COL4A5 | c.474A>C (p.Pro158=) c.150A>C (p.Pro50=) c.489A>C (p.Pro163=) | |
X | g.108573582A>G | CA517991596 | COL4A5 | c.474A>G (p.Pro158=) c.150A>G (p.Pro50=) c.489A>G (p.Pro163=) | gnomAD v4 |
X | g.108573582A>T | CA517991597 | COL4A5 | c.474A>T (p.Pro158=) c.150A>T (p.Pro50=) c.489A>T (p.Pro163=) | |
X | g.108573582_108573583delinsAG | CA2450680714 | COL4A5 | c.474_475delinsAG (p.Pro158=) c.150_151delinsAG (p.Pro50=) c.489_490delinsAG (p.Pro163=) | |
X | g.108573583G>A | CA413920752 | COL4A5 | c.475G>A (p.Gly159Ser) c.151G>A (p.Gly51Ser) c.490G>A (p.Gly164Ser) | gnomAD v4 |
X | g.108573583G>C | CA413920754 | COL4A5 | c.475G>C (p.Gly159Arg) c.151G>C (p.Gly51Arg) c.490G>C (p.Gly164Arg) | |
X | g.108573583G>T | CA413920756 | COL4A5 | c.475G>T (p.Gly159Cys) c.151G>T (p.Gly51Cys) c.490G>T (p.Gly164Cys) | |
X | g.108573584del | CA261042 | COL4A5 | c.476del (p.Gly159ValfsTer3) c.152del (p.Gly51ValfsTer3) c.491del (p.Gly164ValfsTer3) | dbSNP |
X | g.108573583_108573585delinsGGT | CA2450680715 | COL4A5 | c.475_477delinsGGT (p.Gly159=) c.151_153delinsGGT (p.Gly51=) c.490_492delinsGGT (p.Gly164=) | |
X | g.108573584G>A | CA413920761 | COL4A5 | c.476G>A (p.Gly159Asp) c.152G>A (p.Gly51Asp) c.491G>A (p.Gly164Asp) | ClinVar dbSNP |
X | g.108573584G>C | CA413920763 | COL4A5 | c.476G>C (p.Gly159Ala) c.152G>C (p.Gly51Ala) c.491G>C (p.Gly164Ala) | |
X | g.108573584G>T | CA413920766 | COL4A5 | c.476G>T (p.Gly159Val) c.152G>T (p.Gly51Val) c.491G>T (p.Gly164Val) | ClinVar |
X | g.108573584_108573585del | CA2450680716 | COL4A5 | c.476_477del (p.Gly159GlufsTer13) c.152_153del (p.Gly51GlufsTer13) c.491_492del (p.Gly164GlufsTer13) | dbSNP |
X | g.108573585T>A | CA517991599 | COL4A5 | c.477T>A (p.Gly159=) c.153T>A (p.Gly51=) c.492T>A (p.Gly164=) | |
X | g.108573585T>C | CA517991598 | COL4A5 | c.477T>C (p.Gly159=) c.153T>C (p.Gly51=) c.492T>C (p.Gly164=) | |
X | g.108573585T>G | CA517991600 | COL4A5 | c.477T>G (p.Gly159=) c.153T>G (p.Gly51=) c.492T>G (p.Gly164=) | |
X | g.108573586A>C | CA413920770 | COL4A5 | c.478A>C (p.Ser160Arg) c.154A>C (p.Ser52Arg) c.493A>C (p.Ser165Arg) | |
X | g.108573586A>G | CA413920773 | COL4A5 | c.478A>G (p.Ser160Gly) c.154A>G (p.Ser52Gly) c.493A>G (p.Ser165Gly) | |
X | g.108573586A>T | CA413920775 | COL4A5 | c.478A>T (p.Ser160Cys) c.154A>T (p.Ser52Cys) c.493A>T (p.Ser165Cys) | |
X | g.108573586_108573588delinsAGT | CA2450680717 | COL4A5 | c.478_480delinsAGT (p.Ser160=) c.154_156delinsAGT (p.Ser52=) c.493_495delinsAGT (p.Ser165=) | |
X | g.108573587G>A | CA334179514 | COL4A5 | c.479G>A (p.Ser160Asn) c.155G>A (p.Ser52Asn) c.494G>A (p.Ser165Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573587G>C | CA413920780 | COL4A5 | c.479G>C (p.Ser160Thr) c.155G>C (p.Ser52Thr) c.494G>C (p.Ser165Thr) | gnomAD v4 |
X | g.108573587G= | CA2450680719 | COL4A5 | c.479G= (p.Ser160=) c.155G= (p.Ser52=) c.494G= (p.Ser165=) | |
X | g.108573587G>T | CA413920777 | COL4A5 | c.479G>T (p.Ser160Ile) c.155G>T (p.Ser52Ile) c.494G>T (p.Ser165Ile) | |
X | g.108573587_108573588del | CA2450680718 | COL4A5 | c.479_480del (p.Ser160AsnfsTer12) c.155_156del (p.Ser52AsnfsTer12) c.494_495del (p.Ser165AsnfsTer12) | dbSNP |
X | g.108573588T>A | CA413920783 | COL4A5 | c.480T>A (p.Ser160Arg) c.156T>A (p.Ser52Arg) c.495T>A (p.Ser165Arg) | |
X | g.108573588T>C | CA517991601 | COL4A5 | c.480T>C (p.Ser160=) c.156T>C (p.Ser52=) c.495T>C (p.Ser165=) | gnomAD v4 |
X | g.108573588T>G | CA413920785 | COL4A5 | c.480T>G (p.Ser160Arg) c.156T>G (p.Ser52Arg) c.495T>G (p.Ser165Arg) | |
X | g.108573589A= | CA2450680720 | COL4A5 | c.481A= (p.Ile161=) c.157A= (p.Ile53=) c.496A= (p.Ile166=) | |
X | g.108573589A>C | CA413920788 | COL4A5 | c.481A>C (p.Ile161Leu) c.157A>C (p.Ile53Leu) c.496A>C (p.Ile166Leu) | |
X | g.108573589A>G | CA413920790 | COL4A5 | c.481A>G (p.Ile161Val) c.157A>G (p.Ile53Val) c.496A>G (p.Ile166Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108573589A>T | CA413920792 | COL4A5 | c.481A>T (p.Ile161Leu) c.157A>T (p.Ile53Leu) c.496A>T (p.Ile166Leu) | |
X | g.108573590T>A | CA413920794 | COL4A5 | c.482T>A (p.Ile161Lys) c.158T>A (p.Ile53Lys) c.497T>A (p.Ile166Lys) | |
X | g.108573590T>C | CA413920796 | COL4A5 | c.482T>C (p.Ile161Thr) c.158T>C (p.Ile53Thr) c.497T>C (p.Ile166Thr) | |
X | g.108573590T>G | CA413920798 | COL4A5 | c.482T>G (p.Ile161Arg) c.158T>G (p.Ile53Arg) c.497T>G (p.Ile166Arg) | |
X | g.108573591A>C | CA517991602 | COL4A5 | c.483A>C (p.Ile161=) c.159A>C (p.Ile53=) c.498A>C (p.Ile166=) | |
X | g.108573591A>G | CA413920800 | COL4A5 | c.483A>G (p.Ile161Met) c.159A>G (p.Ile53Met) c.498A>G (p.Ile166Met) | |
X | g.108573591A>T | CA517991603 | COL4A5 | c.483A>T (p.Ile161=) c.159A>T (p.Ile53=) c.498A>T (p.Ile166=) | |
X | g.108573592A>C | CA413920803 | COL4A5 | c.484A>C (p.Ile162Leu) c.160A>C (p.Ile54Leu) c.499A>C (p.Ile167Leu) | |
X | g.108573592A>G | CA413920806 | COL4A5 | c.484A>G (p.Ile162Val) c.160A>G (p.Ile54Val) c.499A>G (p.Ile167Val) | |
X | g.108573592A>T | CA413920807 | COL4A5 | c.484A>T (p.Ile162Phe) c.160A>T (p.Ile54Phe) c.499A>T (p.Ile167Phe) | |
X | g.108573593T>A | CA413920814 | COL4A5 | c.485T>A (p.Ile162Asn) c.161T>A (p.Ile54Asn) c.500T>A (p.Ile167Asn) | |
X | g.108573593T>C | CA413920810 | COL4A5 | c.485T>C (p.Ile162Thr) c.161T>C (p.Ile54Thr) c.500T>C (p.Ile167Thr) | |
X | g.108573593T>G | CA413920812 | COL4A5 | c.485T>G (p.Ile162Ser) c.161T>G (p.Ile54Ser) c.500T>G (p.Ile167Ser) | |
X | g.108573594T>A | CA517991604 | COL4A5 | c.486T>A (p.Ile162=) c.162T>A (p.Ile54=) c.501T>A (p.Ile167=) | |
X | g.108573594T>C | CA517991605 | COL4A5 | c.486T>C (p.Ile162=) c.162T>C (p.Ile54=) c.501T>C (p.Ile167=) | |
X | g.108573594T>G | CA413920817 | COL4A5 | c.486T>G (p.Ile162Met) c.162T>G (p.Ile54Met) c.501T>G (p.Ile167Met) | |
X | g.108573595A= | CA2450680721 | COL4A5 | c.487A= (p.Met163=) c.163A= (p.Met55=) c.502A= (p.Met168=) | |
X | g.108573595A>C | CA413920820 | COL4A5 | c.487A>C (p.Met163Leu) c.163A>C (p.Met55Leu) c.502A>C (p.Met168Leu) | |
X | g.108573595A>G | CA413920823 | COL4A5 | c.487A>G (p.Met163Val) c.163A>G (p.Met55Val) c.502A>G (p.Met168Val) | dbSNP COSMIC |
X | g.108573595A>T | CA413920825 | COL4A5 | c.487A>T (p.Met163Leu) c.163A>T (p.Met55Leu) c.502A>T (p.Met168Leu) | |
X | g.108573596T>A | CA413920828 | COL4A5 | c.488T>A (p.Met163Lys) c.164T>A (p.Met55Lys) c.503T>A (p.Met168Lys) | |
X | g.108573596T>C | CA10488477 | COL4A5 | c.488T>C (p.Met163Thr) c.164T>C (p.Met55Thr) c.503T>C (p.Met168Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573596T>G | CA413920833 | COL4A5 | c.488T>G (p.Met163Arg) c.164T>G (p.Met55Arg) c.503T>G (p.Met168Arg) | |
X | g.108573596T= | CA2450680722 | COL4A5 | c.488T= (p.Met163=) c.164T= (p.Met55=) c.503T= (p.Met168=) | |
X | g.108573597G>A | CA413920836 | COL4A5 | c.489G>A (p.Met163Ile) c.165G>A (p.Met55Ile) c.504G>A (p.Met168Ile) | |
X | g.108573597G>C | CA413920838 | COL4A5 | c.489G>C (p.Met163Ile) c.165G>C (p.Met55Ile) c.504G>C (p.Met168Ile) | |
X | g.108573597G>T | CA413920840 | COL4A5 | c.489G>T (p.Met163Ile) c.165G>T (p.Met55Ile) c.504G>T (p.Met168Ile) | |
X | g.108573598T>A | CA413920844 | COL4A5 | c.490T>A (p.Ser164Thr) c.166T>A (p.Ser56Thr) c.505T>A (p.Ser169Thr) | |
X | g.108573598T>C | CA413920846 | COL4A5 | c.490T>C (p.Ser164Pro) c.166T>C (p.Ser56Pro) c.505T>C (p.Ser169Pro) | gnomAD v4 |
X | g.108573598T>G | CA413920848 | COL4A5 | c.490T>G (p.Ser164Ala) c.166T>G (p.Ser56Ala) c.505T>G (p.Ser169Ala) | |
X | g.108573599C>A | CA413920852 | COL4A5 | c.491C>A (p.Ser164Ter) c.167C>A (p.Ser56Ter) c.506C>A (p.Ser169Ter) | gnomAD v4 |
X | g.108573599C>G | CA413920854 | COL4A5 | c.491C>G (p.Ser164Ter) c.167C>G (p.Ser56Ter) c.506C>G (p.Ser169Ter) | |
X | g.108573599C>T | CA413920851 | COL4A5 | c.491C>T (p.Ser164Leu) c.167C>T (p.Ser56Leu) c.506C>T (p.Ser169Leu) | gnomAD v4 |
X | g.108573600A= | CA2450680723 | COL4A5 | c.492A= (p.Ser164=) c.168A= (p.Ser56=) c.507A= (p.Ser169=) | |
X | g.108573600A>C | CA517991608 | COL4A5 | c.492A>C (p.Ser164=) c.168A>C (p.Ser56=) c.507A>C (p.Ser169=) | |
X | g.108573600A>G | CA517991607 | COL4A5 | c.492A>G (p.Ser164=) c.168A>G (p.Ser56=) c.507A>G (p.Ser169=) | dbSNP |
X | g.108573600A>T | CA517991606 | COL4A5 | c.492A>T (p.Ser164=) c.168A>T (p.Ser56=) c.507A>T (p.Ser169=) | |
X | g.108573601T>A | CA413920860 | COL4A5 | c.493T>A (p.Ser165Thr) c.169T>A (p.Ser57Thr) c.508T>A (p.Ser170Thr) | |
X | g.108573601T>C | CA10488478 | COL4A5 | c.493T>C (p.Ser165Pro) c.169T>C (p.Ser57Pro) c.508T>C (p.Ser170Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108573601T>G | CA413920858 | COL4A5 | c.493T>G (p.Ser165Ala) c.169T>G (p.Ser57Ala) c.508T>G (p.Ser170Ala) | |
X | g.108573601T= | CA2450680724 | COL4A5 | c.493T= (p.Ser165=) c.169T= (p.Ser57=) c.508T= (p.Ser170=) | |
X | g.108573602C>A | CA413920863 | COL4A5 | c.494C>A (p.Ser165Ter) c.170C>A (p.Ser57Ter) c.509C>A (p.Ser170Ter) | ClinVar dbSNP |
X | g.108573602C= | CA2450680726 | COL4A5 | c.494C= (p.Ser165=) c.170C= (p.Ser57=) c.509C= (p.Ser170=) | |
X | g.108573602C>G | CA413920865 | COL4A5 | c.494C>G (p.Ser165Ter) c.170C>G (p.Ser57Ter) c.509C>G (p.Ser170Ter) | ClinVar dbSNP |
X | g.108573602C>T | CA413920868 | COL4A5 | c.494C>T (p.Ser165Leu) c.170C>T (p.Ser57Leu) c.509C>T (p.Ser170Leu) | gnomAD v4 |
X | g.108573603A>C | CA517991609 | COL4A5 | c.495A>C (p.Ser165=) c.171A>C (p.Ser57=) c.510A>C (p.Ser170=) | |
X | g.108573603A>G | CA517991610 | COL4A5 | c.495A>G (p.Ser165=) c.171A>G (p.Ser57=) c.510A>G (p.Ser170=) | |
X | g.108573603A>T | CA517991611 | COL4A5 | c.495A>T (p.Ser165=) c.171A>T (p.Ser57=) c.510A>T (p.Ser170=) | |
X | g.108573604C>A | CA413920870 | COL4A5 | c.496C>A (p.Leu166Met) c.172C>A (p.Leu58Met) c.511C>A (p.Leu171Met) | |
X | g.108573604C>G | CA413920872 | COL4A5 | c.496C>G (p.Leu166Val) c.172C>G (p.Leu58Val) c.511C>G (p.Leu171Val) | |
X | g.108573604C>T | CA517991612 | COL4A5 | c.496C>T (p.Leu166=) c.172C>T (p.Leu58=) c.511C>T (p.Leu171=) | ClinVar |
X | g.108573605T>A | CA413920875 | COL4A5 | c.497T>A (p.Leu166Gln) c.173T>A (p.Leu58Gln) c.512T>A (p.Leu171Gln) | |
X | g.108573605T>C | CA413920877 | COL4A5 | c.497T>C (p.Leu166Pro) c.173T>C (p.Leu58Pro) c.512T>C (p.Leu171Pro) | |
X | g.108573605T>G | CA413920880 | COL4A5 | c.497T>G (p.Leu166Arg) c.173T>G (p.Leu58Arg) c.512T>G (p.Leu171Arg) | |
X | g.108573606G>A | CA517991613 | COL4A5 | c.498G>A (p.Leu166=) c.174G>A (p.Leu58=) c.513G>A (p.Leu171=) | |
X | g.108573606G>C | CA517991614 | COL4A5 | c.498G>C (p.Leu166=) c.174G>C (p.Leu58=) c.513G>C (p.Leu171=) | |
X | g.108573606G>T | CA517991615 | COL4A5 | c.498G>T (p.Leu166=) c.174G>T (p.Leu58=) c.513G>T (p.Leu171=) | gnomAD v4 |
X | g.108573607_108573620del | CA2535902988 | COL4A5 | c.499_512del (p.Pro167Ter) c.175_188del (p.Pro59Ter) c.514_527del (p.Pro172Ter) | |
X | g.108573607C>A | CA413920883 | COL4A5 | c.499C>A (p.Pro167Thr) c.175C>A (p.Pro59Thr) c.514C>A (p.Pro172Thr) | |
X | g.108573607C>G | CA413920886 | COL4A5 | c.499C>G (p.Pro167Ala) c.175C>G (p.Pro59Ala) c.514C>G (p.Pro172Ala) | |
X | g.108573607C>T | CA413920889 | COL4A5 | c.499C>T (p.Pro167Ser) c.175C>T (p.Pro59Ser) c.514C>T (p.Pro172Ser) | COSMIC COSMIC |
X | g.108573608del | CA2695235179 | COL4A5 | c.500del (p.Pro167GlnfsTer?) c.176del (p.Pro59GlnfsTer?) c.515del (p.Pro172GlnfsTer?) | |
X | g.108573608C>A | CA413920896 | COL4A5 | c.500C>A (p.Pro167Gln) c.176C>A (p.Pro59Gln) c.515C>A (p.Pro172Gln) | dbSNP |
X | g.108573608C= | CA2450680727 | COL4A5 | c.500C= (p.Pro167=) c.176C= (p.Pro59=) c.515C= (p.Pro172=) | |
X | g.108573608C>G | CA413920892 | COL4A5 | c.500C>G (p.Pro167Arg) c.176C>G (p.Pro59Arg) c.515C>G (p.Pro172Arg) | |
X | g.108573608C>T | CA413920893 | COL4A5 | c.500C>T (p.Pro167Leu) c.176C>T (p.Pro59Leu) c.515C>T (p.Pro172Leu) | |
X | g.108573609A>C | CA517991616 | COL4A5 | c.501A>C (p.Pro167=) c.177A>C (p.Pro59=) c.516A>C (p.Pro172=) | ClinVar |
X | g.108573609A>G | CA517991617 | COL4A5 | c.501A>G (p.Pro167=) c.177A>G (p.Pro59=) c.516A>G (p.Pro172=) | ClinVar gnomAD v4 |
X | g.108573609A>T | CA517991618 | COL4A5 | c.501A>T (p.Pro167=) c.177A>T (p.Pro59=) c.516A>T (p.Pro172=) | |
X | g.108573610G>A | CA413920899 | COL4A5 | c.502G>A (p.Gly168Arg) c.178G>A (p.Gly60Arg) c.517G>A (p.Gly173Arg) | gnomAD v4 COSMIC COSMIC |
X | g.108573610G>C | CA413920903 | COL4A5 | c.502G>C (p.Gly168Arg) c.178G>C (p.Gly60Arg) c.517G>C (p.Gly173Arg) | |
X | g.108573610G>T | CA413920904 | COL4A5 | c.502G>T (p.Gly168Ter) c.178G>T (p.Gly60Ter) c.517G>T (p.Gly173Ter) | |
X | g.108573611G>A | CA413920907 | COL4A5 | c.503G>A (p.Gly168Glu) c.179G>A (p.Gly60Glu) c.518G>A (p.Gly173Glu) | |
X | g.108573611G>C | CA413920909 | COL4A5 | c.503G>C (p.Gly168Ala) c.179G>C (p.Gly60Ala) c.518G>C (p.Gly173Ala) | |
X | g.108573611G>T | CA413920911 | COL4A5 | c.503G>T (p.Gly168Val) c.179G>T (p.Gly60Val) c.518G>T (p.Gly173Val) | |
X | g.108573612A>C | CA517991619 | COL4A5 | c.504A>C (p.Gly168=) c.180A>C (p.Gly60=) c.519A>C (p.Gly173=) | |
X | g.108573612A>G | CA517991620 | COL4A5 | c.504A>G (p.Gly168=) c.180A>G (p.Gly60=) c.519A>G (p.Gly173=) | |
X | g.108573612A>T | CA517991621 | COL4A5 | c.504A>T (p.Gly168=) c.180A>T (p.Gly60=) c.519A>T (p.Gly173=) | gnomAD v4 |
X | g.108573613C>A | CA413920912 | COL4A5 | c.505C>A (p.Pro169Thr) c.181C>A (p.Pro61Thr) c.520C>A (p.Pro174Thr) | |
X | g.108573613C>G | CA413920915 | COL4A5 | c.505C>G (p.Pro169Ala) c.181C>G (p.Pro61Ala) c.520C>G (p.Pro174Ala) | |
X | g.108573613C>T | CA413920917 | COL4A5 | c.505C>T (p.Pro169Ser) c.181C>T (p.Pro61Ser) c.520C>T (p.Pro174Ser) | COSMIC COSMIC |
X | g.108573614C>A | CA413920920 | COL4A5 | c.506C>A (p.Pro169Gln) c.182C>A (p.Pro61Gln) c.521C>A (p.Pro174Gln) | gnomAD v4 |
X | g.108573614C>G | CA413920921 | COL4A5 | c.506C>G (p.Pro169Arg) c.182C>G (p.Pro61Arg) c.521C>G (p.Pro174Arg) | |
X | g.108573614C>T | CA413920924 | COL4A5 | c.506C>T (p.Pro169Leu) c.182C>T (p.Pro61Leu) c.521C>T (p.Pro174Leu) | |
X | g.108573615A>C | CA517991622 | COL4A5 | c.507A>C (p.Pro169=) c.183A>C (p.Pro61=) c.522A>C (p.Pro174=) | |
X | g.108573615A>G | CA517991623 | COL4A5 | c.507A>G (p.Pro169=) c.183A>G (p.Pro61=) c.522A>G (p.Pro174=) | |
X | g.108573615A>T | CA517991624 | COL4A5 | c.507A>T (p.Pro169=) c.183A>T (p.Pro61=) c.522A>T (p.Pro174=) | |
X | g.108573617del | CA2579675876 | COL4A5 | c.509del (p.Lys170ArgfsTer?) c.185del (p.Lys62ArgfsTer?) c.524del (p.Lys175ArgfsTer?) | |
X | g.108573616A>C | CA413920932 | COL4A5 | c.508A>C (p.Lys170Gln) c.184A>C (p.Lys62Gln) c.523A>C (p.Lys175Gln) | |
X | g.108573616A>G | CA413920929 | COL4A5 | c.508A>G (p.Lys170Glu) c.184A>G (p.Lys62Glu) c.523A>G (p.Lys175Glu) | |
X | g.108573616A>T | CA413920928 | COL4A5 | c.508A>T (p.Lys170Ter) c.184A>T (p.Lys62Ter) c.523A>T (p.Lys175Ter) | |
X | g.108573617A>C | CA413920935 | COL4A5 | c.509A>C (p.Lys170Thr) c.185A>C (p.Lys62Thr) c.524A>C (p.Lys175Thr) | |
X | g.108573617A>G | CA413920937 | COL4A5 | c.509A>G (p.Lys170Arg) c.185A>G (p.Lys62Arg) c.524A>G (p.Lys175Arg) | |
X | g.108573617A>T | CA413920939 | COL4A5 | c.509A>T (p.Lys170Met) c.185A>T (p.Lys62Met) c.524A>T (p.Lys175Met) | |
X | g.108573618G>A | CA517991625 | COL4A5 | c.510G>A (p.Lys170=) c.186G>A (p.Lys62=) c.525G>A (p.Lys175=) | |
X | g.108573618G>C | CA413920943 | COL4A5 | c.510G>C (p.Lys170Asn) c.186G>C (p.Lys62Asn) c.525G>C (p.Lys175Asn) | |
X | g.108573618G>T | CA413920945 | COL4A5 | c.510G>T (p.Lys170Asn) c.186G>T (p.Lys62Asn) c.525G>T (p.Lys175Asn) | |
X | g.108573619G>A | CA413920954 | COL4A5 | c.511G>A (p.Gly171Ser) c.187G>A (p.Gly63Ser) c.526G>A (p.Gly176Ser) | ClinVar dbSNP |
X | g.108573619G>C | CA413920951 | COL4A5 | c.511G>C (p.Gly171Arg) c.187G>C (p.Gly63Arg) c.526G>C (p.Gly176Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108573619G= | CA2450680728 | COL4A5 | c.511G= (p.Gly171=) c.187G= (p.Gly63=) c.526G= (p.Gly176=) | |
X | g.108573619G>T | CA413920949 | COL4A5 | c.511G>T (p.Gly171Cys) c.187G>T (p.Gly63Cys) c.526G>T (p.Gly176Cys) | ClinVar |
X | g.108573620G>A | CA413920956 | COL4A5 | c.512G>A (p.Gly171Asp) c.188G>A (p.Gly63Asp) c.527G>A (p.Gly176Asp) | |
X | g.108573620G>C | CA413920959 | COL4A5 | c.512G>C (p.Gly171Ala) c.188G>C (p.Gly63Ala) c.527G>C (p.Gly176Ala) | |
X | g.108573620G>T | CA413920962 | COL4A5 | c.512G>T (p.Gly171Val) c.188G>T (p.Gly63Val) c.527G>T (p.Gly176Val) | |
X | g.108573621T>A | CA517991628 | COL4A5 | c.513T>A (p.Gly171=) c.189T>A (p.Gly63=) c.528T>A (p.Gly176=) | |
X | g.108573621T>C | CA517991627 | COL4A5 | c.513T>C (p.Gly171=) c.189T>C (p.Gly63=) c.528T>C (p.Gly176=) | |
X | g.108573621T>G | CA517991626 | COL4A5 | c.513T>G (p.Gly171=) c.189T>G (p.Gly63=) c.528T>G (p.Gly176=) | |
X | g.108573622A>C | CA413920963 | COL4A5 | c.514A>C (p.Asn172His) c.190A>C (p.Asn64His) c.529A>C (p.Asn177His) | |
X | g.108573622A>G | CA413920966 | COL4A5 | c.514A>G (p.Asn172Asp) c.190A>G (p.Asn64Asp) c.529A>G (p.Asn177Asp) | gnomAD v4 |
X | g.108573622A>T | CA413920968 | COL4A5 | c.514A>T (p.Asn172Tyr) c.190A>T (p.Asn64Tyr) c.529A>T (p.Asn177Tyr) | |
X | g.108573623del | CA2580100246 | COL4A5 | c.515del (p.Asn172IlefsTer?) c.191del (p.Asn64IlefsTer?) c.530del (p.Asn177IlefsTer?) | ClinVar |
X | g.108573623A>C | CA413920972 | COL4A5 | c.515A>C (p.Asn172Thr) c.191A>C (p.Asn64Thr) c.530A>C (p.Asn177Thr) | |
X | g.108573623A>G | CA413920974 | COL4A5 | c.515A>G (p.Asn172Ser) c.191A>G (p.Asn64Ser) c.530A>G (p.Asn177Ser) | |
X | g.108573623A>T | CA413920973 | COL4A5 | c.515A>T (p.Asn172Ile) c.191A>T (p.Asn64Ile) c.530A>T (p.Asn177Ile) | |
X | g.108573623_108573640del | CA2531530036 | COL4A5 | c.515_532del (p.Asn172_Pro178delinsThr) c.191_208del (p.Asn64_Pro70delinsThr) c.530_547del (p.Asn177_Pro183delinsThr) | |
X | g.108573624T>A | CA413920977 | COL4A5 | c.516T>A (p.Asn172Lys) c.192T>A (p.Asn64Lys) c.531T>A (p.Asn177Lys) | |
X | g.108573624T>C | CA517991629 | COL4A5 | c.516T>C (p.Asn172=) c.192T>C (p.Asn64=) c.531T>C (p.Asn177=) | |
X | g.108573624T>G | CA413920980 | COL4A5 | c.516T>G (p.Asn172Lys) c.192T>G (p.Asn64Lys) c.531T>G (p.Asn177Lys) | |
X | g.108573625C>A | CA413920983 | COL4A5 | c.517C>A (p.Pro173Thr) c.193C>A (p.Pro65Thr) c.532C>A (p.Pro178Thr) | |
X | g.108573625C>G | CA413920984 | COL4A5 | c.517C>G (p.Pro173Ala) c.193C>G (p.Pro65Ala) c.532C>G (p.Pro178Ala) | |
X | g.108573625C>T | CA413920986 | COL4A5 | c.517C>T (p.Pro173Ser) c.193C>T (p.Pro65Ser) c.532C>T (p.Pro178Ser) | |
X | g.108573626C>A | CA413920987 | COL4A5 | c.518C>A (p.Pro173Gln) c.194C>A (p.Pro65Gln) c.533C>A (p.Pro178Gln) | gnomAD v4 |
X | g.108573626C>G | CA413920990 | COL4A5 | c.518C>G (p.Pro173Arg) c.194C>G (p.Pro65Arg) c.533C>G (p.Pro178Arg) | |
X | g.108573626C>T | CA413920994 | COL4A5 | c.518C>T (p.Pro173Leu) c.194C>T (p.Pro65Leu) c.533C>T (p.Pro178Leu) | |
X | g.108573627A>C | CA517991630 | COL4A5 | c.519A>C (p.Pro173=) c.195A>C (p.Pro65=) c.534A>C (p.Pro178=) | |
X | g.108573627A>G | CA517991632 | COL4A5 | c.519A>G (p.Pro173=) c.195A>G (p.Pro65=) c.534A>G (p.Pro178=) | |
X | g.108573627A>T | CA517991631 | COL4A5 | c.519A>T (p.Pro173=) c.195A>T (p.Pro65=) c.534A>T (p.Pro178=) |