| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582898_108582915dup | CA2695235194 | COL4A5 | c.951_968dup (p.Gly322_Glu323insAspProGlyTyrProGly) n.407_424dup c.627_644dup (p.Gly214_Glu215insAspProGlyTyrProGly) c.966_983dup (p.Gly327_Glu328insAspProGlyTyrProGly) c.-759_-742dup (n.-759_-742dup) | |
| X | g.108582904_108582921dup | CA2695235195 | COL4A5 | c.957_974dup (p.Gly325_Arg326insTyrProGlyGluProGly) n.413_430dup c.633_650dup (p.Gly217_Arg218insTyrProGlyGluProGly) c.972_989dup (p.Gly330_Arg331insTyrProGlyGluProGly) c.-753_-736dup (n.-753_-736dup) | |
| X | g.108582904_108582921del | CA2739289603 | COL4A5 | c.957_974del (p.Tyr320_Gly325del) n.413_430del c.633_650del (p.Tyr212_Gly217del) c.972_989del (p.Tyr325_Gly330del) c.-753_-736del (n.-753_-736del) | |
| X | g.108582903G>A | CA258369 | COL4A5 | c.956G>A (p.Gly319Asp) n.412G>A c.632G>A (p.Gly211Asp) c.971G>A (p.Gly324Asp) c.-754G>A (n.-754G>A) | ClinVar dbSNP |
| X | g.108582903G>C | CA413927494 | COL4A5 | c.956G>C (p.Gly319Ala) n.412G>C c.632G>C (p.Gly211Ala) c.971G>C (p.Gly324Ala) c.-754G>C (n.-754G>C) | |
| X | g.108582903G= | CA2450683806 | COL4A5 | c.956G= (p.Gly319=) n.412G= c.632G= (p.Gly211=) c.971G= (p.Gly324=) c.-754G= (n.-754G=) | |
| X | g.108582903G>T | CA413927497 | COL4A5 | c.956G>T (p.Gly319Val) n.412G>T c.632G>T (p.Gly211Val) c.971G>T (p.Gly324Val) c.-754G>T (n.-754G>T) | ClinVar |
| X | g.108582904T>A | CA517991966 | COL4A5 | c.957T>A (p.Gly319=) n.413T>A c.633T>A (p.Gly211=) c.972T>A (p.Gly324=) c.-753T>A (n.-753T>A) | |
| X | g.108582904T>C | CA517991967 | COL4A5 | c.957T>C (p.Gly319=) n.413T>C c.633T>C (p.Gly211=) c.972T>C (p.Gly324=) c.-753T>C (n.-753T>C) | |
| X | g.108582904T>G | CA517991965 | COL4A5 | c.957T>G (p.Gly319=) n.413T>G c.633T>G (p.Gly211=) c.972T>G (p.Gly324=) c.-753T>G (n.-753T>G) | |
| X | g.108582905del | CA2739289604 | COL4A5 | c.958del (p.Tyr320ThrfsTer26) n.414del c.634del (p.Tyr212ThrfsTer26) c.973del (p.Tyr325ThrfsTer26) c.-752del (n.-752del) | |
| X | g.108582905T>A | CA413927505 | COL4A5 | c.958T>A (p.Tyr320Asn) n.414T>A c.634T>A (p.Tyr212Asn) c.973T>A (p.Tyr325Asn) c.-752T>A (n.-752T>A) | |
| X | g.108582905T>C | CA413927500 | COL4A5 | c.958T>C (p.Tyr320His) n.414T>C c.634T>C (p.Tyr212His) c.973T>C (p.Tyr325His) c.-752T>C (n.-752T>C) | |
| X | g.108582905T>G | CA413927498 | COL4A5 | c.958T>G (p.Tyr320Asp) n.414T>G c.634T>G (p.Tyr212Asp) c.973T>G (p.Tyr325Asp) c.-752T>G (n.-752T>G) | |
| X | g.108582905_108582907dup | CA923726141 | COL4A5 | c.958_960dup (p.Tyr320_Pro321insTyr) n.414_416dup c.634_636dup (p.Tyr212_Pro213insTyr) c.973_975dup (p.Tyr325_Pro326insTyr) c.-752_-750dup (n.-752_-750dup) | |
| X | g.108582906A>C | CA413927510 | COL4A5 | c.959A>C (p.Tyr320Ser) n.415A>C c.635A>C (p.Tyr212Ser) c.974A>C (p.Tyr325Ser) c.-751A>C (n.-751A>C) | |
| X | g.108582906A>G | CA413927517 | COL4A5 | c.959A>G (p.Tyr320Cys) n.415A>G c.635A>G (p.Tyr212Cys) c.974A>G (p.Tyr325Cys) c.-751A>G (n.-751A>G) | |
| X | g.108582906A>T | CA413927524 | COL4A5 | c.959A>T (p.Tyr320Phe) n.415A>T c.635A>T (p.Tyr212Phe) c.974A>T (p.Tyr325Phe) c.-751A>T (n.-751A>T) | |
| X | g.108582907C>A | CA258372 | COL4A5 | c.960C>A (p.Tyr320Ter) n.416C>A c.636C>A (p.Tyr212Ter) c.975C>A (p.Tyr325Ter) c.-750C>A (n.-750C>A) | dbSNP |
| X | g.108582907C= | CA2450683807 | COL4A5 | c.960C= (p.Tyr320=) n.416C= c.636C= (p.Tyr212=) c.975C= (p.Tyr325=) c.-750C= (n.-750C=) | |
| X | g.108582907C>G | CA413927529 | COL4A5 | c.960C>G (p.Tyr320Ter) n.416C>G c.636C>G (p.Tyr212Ter) c.975C>G (p.Tyr325Ter) c.-750C>G (n.-750C>G) | |
| X | g.108582907C>T | CA517991968 | COL4A5 | c.960C>T (p.Tyr320=) n.416C>T c.636C>T (p.Tyr212=) c.975C>T (p.Tyr325=) c.-750C>T (n.-750C>T) | |
| X | g.108582908C>A | CA413927552 | COL4A5 | c.961C>A (p.Pro321Thr) n.417C>A c.637C>A (p.Pro213Thr) c.976C>A (p.Pro326Thr) c.-749C>A (n.-749C>A) | gnomAD v4 |
| X | g.108582908C= | CA2450683808 | COL4A5 | c.961C= (p.Pro321=) n.417C= c.637C= (p.Pro213=) c.976C= (p.Pro326=) c.-749C= (n.-749C=) | |
| X | g.108582908C>G | CA413927545 | COL4A5 | c.961C>G (p.Pro321Ala) n.417C>G c.637C>G (p.Pro213Ala) c.976C>G (p.Pro326Ala) c.-749C>G (n.-749C>G) | |
| X | g.108582908C>T | CA10488634 | COL4A5 | c.961C>T (p.Pro321Ser) n.417C>T c.637C>T (p.Pro213Ser) c.976C>T (p.Pro326Ser) c.-749C>T (n.-749C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108582909C>A | CA413927558 | COL4A5 | c.962C>A (p.Pro321His) n.418C>A c.638C>A (p.Pro213His) c.977C>A (p.Pro326His) c.-748C>A (n.-748C>A) | |
| X | g.108582909C>G | CA413927566 | COL4A5 | c.962C>G (p.Pro321Arg) n.418C>G c.638C>G (p.Pro213Arg) c.977C>G (p.Pro326Arg) c.-748C>G (n.-748C>G) | |
| X | g.108582909C>T | CA413927569 | COL4A5 | c.962C>T (p.Pro321Leu) n.418C>T c.638C>T (p.Pro213Leu) c.977C>T (p.Pro326Leu) c.-748C>T (n.-748C>T) | |
| X | g.108582910T>A | CA517991971 | COL4A5 | c.963T>A (p.Pro321=) n.419T>A c.639T>A (p.Pro213=) c.978T>A (p.Pro326=) c.-747T>A (n.-747T>A) | |
| X | g.108582910T>C | CA517991969 | COL4A5 | c.963T>C (p.Pro321=) n.419T>C c.639T>C (p.Pro213=) c.978T>C (p.Pro326=) c.-747T>C (n.-747T>C) | |
| X | g.108582910T>G | CA517991970 | COL4A5 | c.963T>G (p.Pro321=) n.419T>G c.639T>G (p.Pro213=) c.978T>G (p.Pro326=) c.-747T>G (n.-747T>G) | |
| X | g.108582911G>A | CA413927570 | COL4A5 | c.964G>A (p.Gly322Ser) n.420G>A c.640G>A (p.Gly214Ser) c.979G>A (p.Gly327Ser) c.-746G>A (n.-746G>A) | |
| X | g.108582911G>C | CA413927572 | COL4A5 | c.964G>C (p.Gly322Arg) n.420G>C c.640G>C (p.Gly214Arg) c.979G>C (p.Gly327Arg) c.-746G>C (n.-746G>C) | |
| X | g.108582911G>T | CA413927576 | COL4A5 | c.964G>T (p.Gly322Cys) n.420G>T c.640G>T (p.Gly214Cys) c.979G>T (p.Gly327Cys) c.-746G>T (n.-746G>T) | |
| X | g.108582912G>A | CA413927583 | COL4A5 | c.965G>A (p.Gly322Asp) n.421G>A c.641G>A (p.Gly214Asp) c.980G>A (p.Gly327Asp) c.-745G>A (n.-745G>A) | |
| X | g.108582912G>C | CA413927591 | COL4A5 | c.965G>C (p.Gly322Ala) n.421G>C c.641G>C (p.Gly214Ala) c.980G>C (p.Gly327Ala) c.-745G>C (n.-745G>C) | gnomAD v4 |
| X | g.108582912G= | CA2450683809 | COL4A5 | c.965G= (p.Gly322=) n.421G= c.641G= (p.Gly214=) c.980G= (p.Gly327=) c.-745G= (n.-745G=) | |
| X | g.108582912G>T | CA413927587 | COL4A5 | c.965G>T (p.Gly322Val) n.421G>T c.641G>T (p.Gly214Val) c.980G>T (p.Gly327Val) c.-745G>T (n.-745G>T) | |
| X | g.108582913T>A | CA517991972 | COL4A5 | c.966T>A (p.Gly322=) n.422T>A c.642T>A (p.Gly214=) c.981T>A (p.Gly327=) c.-744T>A (n.-744T>A) | |
| X | g.108582913T>C | CA517991973 | COL4A5 | c.966T>C (p.Gly322=) n.422T>C c.642T>C (p.Gly214=) c.981T>C (p.Gly327=) c.-744T>C (n.-744T>C) | |
| X | g.108582913T>G | CA517991974 | COL4A5 | c.966T>G (p.Gly322=) n.422T>G c.642T>G (p.Gly214=) c.981T>G (p.Gly327=) c.-744T>G (n.-744T>G) | |
| X | g.108582914G>A | CA413927603 | COL4A5 | c.967G>A (p.Glu323Lys) n.423G>A c.643G>A (p.Glu215Lys) c.982G>A (p.Glu328Lys) c.-743G>A (n.-743G>A) | |
| X | g.108582914G>C | CA413927604 | COL4A5 | c.967G>C (p.Glu323Gln) n.423G>C c.643G>C (p.Glu215Gln) c.982G>C (p.Glu328Gln) c.-743G>C (n.-743G>C) | |
| X | g.108582914G>T | CA413927605 | COL4A5 | c.967G>T (p.Glu323Ter) n.423G>T c.643G>T (p.Glu215Ter) c.982G>T (p.Glu328Ter) c.-743G>T (n.-743G>T) | |
| X | g.108582915A>C | CA413927606 | COL4A5 | c.968A>C (p.Glu323Ala) n.424A>C c.644A>C (p.Glu215Ala) c.983A>C (p.Glu328Ala) c.-742A>C (n.-742A>C) | |
| X | g.108582915A>G | CA413927608 | COL4A5 | c.968A>G (p.Glu323Gly) n.424A>G c.644A>G (p.Glu215Gly) c.983A>G (p.Glu328Gly) c.-742A>G (n.-742A>G) | |
| X | g.108582915A>T | CA413927610 | COL4A5 | c.968A>T (p.Glu323Val) n.424A>T c.644A>T (p.Glu215Val) c.983A>T (p.Glu328Val) c.-742A>T (n.-742A>T) | |
| X | g.108582916A>C | CA413927613 | COL4A5 | c.969A>C (p.Glu323Asp) n.425A>C c.645A>C (p.Glu215Asp) c.984A>C (p.Glu328Asp) c.-741A>C (n.-741A>C) | |
| X | g.108582916A>G | CA517991975 | COL4A5 | c.969A>G (p.Glu323=) n.425A>G c.645A>G (p.Glu215=) c.984A>G (p.Glu328=) c.-741A>G (n.-741A>G) | gnomAD v4 |