| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108578335C>A | CA517991802 | COL4A5 | c.732C>A (p.Ile244=) c.408C>A (p.Ile136=) c.747C>A (p.Ile249=) | gnomAD v4 |
| X | g.108578335C= | CA2450682328 | COL4A5 | c.732C= (p.Ile244=) c.408C= (p.Ile136=) c.747C= (p.Ile249=) | |
| X | g.108578335C>G | CA413924265 | COL4A5 | c.732C>G (p.Ile244Met) c.408C>G (p.Ile136Met) c.747C>G (p.Ile249Met) | dbSNP |
| X | g.108578335C>T | CA517991803 | COL4A5 | c.732C>T (p.Ile244=) c.408C>T (p.Ile136=) c.747C>T (p.Ile249=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578336A>C | CA413924268 | COL4A5 | c.733A>C (p.Ser245Arg) c.409A>C (p.Ser137Arg) c.748A>C (p.Ser250Arg) | |
| X | g.108578336A>G | CA413924270 | COL4A5 | c.733A>G (p.Ser245Gly) c.409A>G (p.Ser137Gly) c.748A>G (p.Ser250Gly) | |
| X | g.108578336A>T | CA413924273 | COL4A5 | c.733A>T (p.Ser245Cys) c.409A>T (p.Ser137Cys) c.748A>T (p.Ser250Cys) | |
| X | g.108578337G>A | CA413924276 | COL4A5 | c.734G>A (p.Ser245Asn) c.410G>A (p.Ser137Asn) c.749G>A (p.Ser250Asn) | gnomAD v4 |
| X | g.108578337G>C | CA413924281 | COL4A5 | c.734G>C (p.Ser245Thr) c.410G>C (p.Ser137Thr) c.749G>C (p.Ser250Thr) | |
| X | g.108578337G>T | CA413924279 | COL4A5 | c.734G>T (p.Ser245Ile) c.410G>T (p.Ser137Ile) c.749G>T (p.Ser250Ile) | |
| X | g.108578338T>A | CA413924283 | COL4A5 | c.735T>A (p.Ser245Arg) c.411T>A (p.Ser137Arg) c.750T>A (p.Ser250Arg) | |
| X | g.108578338T>C | CA10488554 | COL4A5 | c.735T>C (p.Ser245=) c.411T>C (p.Ser137=) c.750T>C (p.Ser250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578338T>G | CA413924286 | COL4A5 | c.735T>G (p.Ser245Arg) c.411T>G (p.Ser137Arg) c.750T>G (p.Ser250Arg) | |
| X | g.108578338T= | CA2450682329 | COL4A5 | c.735T= (p.Ser245=) c.411T= (p.Ser137=) c.750T= (p.Ser250=) | |
| X | g.108578339G>A | CA413924291 | COL4A5 | c.736G>A (p.Glu246Lys) c.412G>A (p.Glu138Lys) c.751G>A (p.Glu251Lys) | |
| X | g.108578339G>C | CA413924300 | COL4A5 | c.736G>C (p.Glu246Gln) c.412G>C (p.Glu138Gln) c.751G>C (p.Glu251Gln) | |
| X | g.108578339G>T | CA413924306 | COL4A5 | c.736G>T (p.Glu246Ter) c.412G>T (p.Glu138Ter) c.751G>T (p.Glu251Ter) | |
| X | g.108578341_108578350del | CA2739289599 | COL4A5 | c.738_747del (p.Glu246AspfsTer5) c.414_423del (p.Glu138AspfsTer5) c.753_762del (p.Glu251AspfsTer5) | |
| X | g.108578340A>C | CA413924308 | COL4A5 | c.737A>C (p.Glu246Ala) c.413A>C (p.Glu138Ala) c.752A>C (p.Glu251Ala) | |
| X | g.108578340A>G | CA413924310 | COL4A5 | c.737A>G (p.Glu246Gly) c.413A>G (p.Glu138Gly) c.752A>G (p.Glu251Gly) | COSMIC |
| X | g.108578340A>T | CA413924318 | COL4A5 | c.737A>T (p.Glu246Val) c.413A>T (p.Glu138Val) c.752A>T (p.Glu251Val) | |
| X | g.108578341A>C | CA413924320 | COL4A5 | c.738A>C (p.Glu246Asp) c.414A>C (p.Glu138Asp) c.753A>C (p.Glu251Asp) | |
| X | g.108578341A>G | CA517991804 | COL4A5 | c.738A>G (p.Glu246=) c.414A>G (p.Glu138=) c.753A>G (p.Glu251=) | |
| X | g.108578341A>T | CA413924322 | COL4A5 | c.738A>T (p.Glu246Asp) c.414A>T (p.Glu138Asp) c.753A>T (p.Glu251Asp) | |
| X | g.108578342C>A | CA413924330 | COL4A5 | c.739C>A (p.Gln247Lys) c.415C>A (p.Gln139Lys) c.754C>A (p.Gln252Lys) | |
| X | g.108578342C>G | CA413924332 | COL4A5 | c.739C>G (p.Gln247Glu) c.415C>G (p.Gln139Glu) c.754C>G (p.Gln252Glu) | |
| X | g.108578342C>T | CA413924333 | COL4A5 | c.739C>T (p.Gln247Ter) c.415C>T (p.Gln139Ter) c.754C>T (p.Gln252Ter) | |
| X | g.108578343A>C | CA413924337 | COL4A5 | c.740A>C (p.Gln247Pro) c.416A>C (p.Gln139Pro) c.755A>C (p.Gln252Pro) | |
| X | g.108578343A>G | CA413924335 | COL4A5 | c.740A>G (p.Gln247Arg) c.416A>G (p.Gln139Arg) c.755A>G (p.Gln252Arg) | |
| X | g.108578343A>T | CA413924334 | COL4A5 | c.740A>T (p.Gln247Leu) c.416A>T (p.Gln139Leu) c.755A>T (p.Gln252Leu) | |
| X | g.108578344G>A | CA517991805 | COL4A5 | c.741G>A (p.Gln247=) c.417G>A (p.Gln139=) c.756G>A (p.Gln252=) | ClinVar COSMIC COSMIC |
| X | g.108578344G>C | CA413924338 | COL4A5 | c.741G>C (p.Gln247His) c.417G>C (p.Gln139His) c.756G>C (p.Gln252His) | |
| X | g.108578344G>T | CA413924339 | COL4A5 | c.741G>T (p.Gln247His) c.417G>T (p.Gln139His) c.756G>T (p.Gln252His) | |
| X | g.108578345A>C | CA413924343 | COL4A5 | c.742A>C (p.Lys248Gln) c.418A>C (p.Lys140Gln) c.757A>C (p.Lys253Gln) | |
| X | g.108578345A>G | CA413924344 | COL4A5 | c.742A>G (p.Lys248Glu) c.418A>G (p.Lys140Glu) c.757A>G (p.Lys253Glu) | |
| X | g.108578345A>T | CA413924346 | COL4A5 | c.742A>T (p.Lys248Ter) c.418A>T (p.Lys140Ter) c.757A>T (p.Lys253Ter) | |
| X | g.108578346A>C | CA413924353 | COL4A5 | c.743A>C (p.Lys248Thr) c.419A>C (p.Lys140Thr) c.758A>C (p.Lys253Thr) | |
| X | g.108578346A>G | CA413924355 | COL4A5 | c.743A>G (p.Lys248Arg) c.419A>G (p.Lys140Arg) c.758A>G (p.Lys253Arg) | |
| X | g.108578346A>T | CA413924357 | COL4A5 | c.743A>T (p.Lys248Ile) c.419A>T (p.Lys140Ile) c.758A>T (p.Lys253Ile) | |
| X | g.108578347A>C | CA413924360 | COL4A5 | c.744A>C (p.Lys248Asn) c.420A>C (p.Lys140Asn) c.759A>C (p.Lys253Asn) | |
| X | g.108578347A>G | CA517991806 | COL4A5 | c.744A>G (p.Lys248=) c.420A>G (p.Lys140=) c.759A>G (p.Lys253=) | |
| X | g.108578347A>T | CA413924361 | COL4A5 | c.744A>T (p.Lys248Asn) c.420A>T (p.Lys140Asn) c.759A>T (p.Lys253Asn) | |
| X | g.108578348A= | CA2450682330 | COL4A5 | c.745A= (p.Arg249=) c.421A= (p.Arg141=) c.760A= (p.Arg254=) | |
| X | g.108578348A>C | CA517991807 | COL4A5 | c.745A>C (p.Arg249=) c.421A>C (p.Arg141=) c.760A>C (p.Arg254=) | |
| X | g.108578348A>G | CA413924364 | COL4A5 | c.745A>G (p.Arg249Gly) c.421A>G (p.Arg141Gly) c.760A>G (p.Arg254Gly) | |
| X | g.108578348A>T | CA413924365 | COL4A5 | c.745A>T (p.Arg249Ter) c.421A>T (p.Arg141Ter) c.760A>T (p.Arg254Ter) | ClinVar dbSNP |
| X | g.108578349G>A | CA334180273 | COL4A5 | c.746G>A (p.Arg249Lys) c.422G>A (p.Arg141Lys) c.761G>A (p.Arg254Lys) | dbSNP |
| X | g.108578349G>C | CA413924370 | COL4A5 | c.746G>C (p.Arg249Thr) c.422G>C (p.Arg141Thr) c.761G>C (p.Arg254Thr) | |
| X | g.108578349G= | CA2450682331 | COL4A5 | c.746G= (p.Arg249=) c.422G= (p.Arg141=) c.761G= (p.Arg254=) | |
| X | g.108578349G>T | CA413924368 | COL4A5 | c.746G>T (p.Arg249Ile) c.422G>T (p.Arg141Ile) c.761G>T (p.Arg254Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578350A= | CA2450682332 | COL4A5 | c.747A= (p.Arg249=) c.423A= (p.Arg141=) c.762A= (p.Arg254=) | |
| X | g.108578350A>C | CA10488555 | COL4A5 | c.747A>C (p.Arg249Ser) c.423A>C (p.Arg141Ser) c.762A>C (p.Arg254Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578350A>G | CA517991808 | COL4A5 | c.747A>G (p.Arg249=) c.423A>G (p.Arg141=) c.762A>G (p.Arg254=) | gnomAD v4 |
| X | g.108578350A>T | CA413924374 | COL4A5 | c.747A>T (p.Arg249Ser) c.423A>T (p.Arg141Ser) c.762A>T (p.Arg254Ser) | |
| X | g.108578351C>A | CA413924376 | COL4A5 | c.748C>A (p.Pro250Thr) c.424C>A (p.Pro142Thr) c.763C>A (p.Pro255Thr) | COSMIC COSMIC |
| X | g.108578351C>G | CA413924378 | COL4A5 | c.748C>G (p.Pro250Ala) c.424C>G (p.Pro142Ala) c.763C>G (p.Pro255Ala) | |
| X | g.108578351C>T | CA413924381 | COL4A5 | c.748C>T (p.Pro250Ser) c.424C>T (p.Pro142Ser) c.763C>T (p.Pro255Ser) | |
| X | g.108578352C>A | CA413924387 | COL4A5 | c.749C>A (p.Pro250Gln) c.425C>A (p.Pro142Gln) c.764C>A (p.Pro255Gln) | |
| X | g.108578352C>G | CA413924389 | COL4A5 | c.749C>G (p.Pro250Arg) c.425C>G (p.Pro142Arg) c.764C>G (p.Pro255Arg) | |
| X | g.108578352C>T | CA413924392 | COL4A5 | c.749C>T (p.Pro250Leu) c.425C>T (p.Pro142Leu) c.764C>T (p.Pro255Leu) | gnomAD v4 |
| X | g.108578353A= | CA2450682333 | COL4A5 | c.750A= (p.Pro250=) c.426A= (p.Pro142=) c.765A= (p.Pro255=) | |
| X | g.108578353A>C | CA517991809 | COL4A5 | c.750A>C (p.Pro250=) c.426A>C (p.Pro142=) c.765A>C (p.Pro255=) | |
| X | g.108578353A>G | CA517991810 | COL4A5 | c.750A>G (p.Pro250=) c.426A>G (p.Pro142=) c.765A>G (p.Pro255=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578353A>T | CA517991811 | COL4A5 | c.750A>T (p.Pro250=) c.426A>T (p.Pro142=) c.765A>T (p.Pro255=) | |
| X | g.108578354A= | CA2450682334 | COL4A5 | c.751A= (p.Ile251=) c.427A= (p.Ile143=) c.766A= (p.Ile256=) | |
| X | g.108578354A>C | CA413924395 | COL4A5 | c.751A>C (p.Ile251Leu) c.427A>C (p.Ile143Leu) c.766A>C (p.Ile256Leu) | |
| X | g.108578354A>G | CA10488556 | COL4A5 | c.751A>G (p.Ile251Val) c.427A>G (p.Ile143Val) c.766A>G (p.Ile256Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578354A>T | CA413924401 | COL4A5 | c.751A>T (p.Ile251Phe) c.427A>T (p.Ile143Phe) c.766A>T (p.Ile256Phe) | |
| X | g.108578355T>A | CA413924404 | COL4A5 | c.752T>A (p.Ile251Asn) c.428T>A (p.Ile143Asn) c.767T>A (p.Ile256Asn) | |
| X | g.108578355T>C | CA413924407 | COL4A5 | c.752T>C (p.Ile251Thr) c.428T>C (p.Ile143Thr) c.767T>C (p.Ile256Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578355T>G | CA413924414 | COL4A5 | c.752T>G (p.Ile251Ser) c.428T>G (p.Ile143Ser) c.767T>G (p.Ile256Ser) | |
| X | g.108578355T= | CA2450682335 | COL4A5 | c.752T= (p.Ile251=) c.428T= (p.Ile143=) c.767T= (p.Ile256=) | |
| X | g.108578356T>A | CA517991812 | COL4A5 | c.753T>A (p.Ile251=) c.429T>A (p.Ile143=) c.768T>A (p.Ile256=) | |
| X | g.108578356T>C | CA517991813 | COL4A5 | c.753T>C (p.Ile251=) c.429T>C (p.Ile143=) c.768T>C (p.Ile256=) | |
| X | g.108578356T>G | CA413924415 | COL4A5 | c.753T>G (p.Ile251Met) c.429T>G (p.Ile143Met) c.768T>G (p.Ile256Met) | |
| X | g.108578357G>A | CA413924416 | COL4A5 | c.754G>A (p.Asp252Asn) c.430G>A (p.Asp144Asn) c.769G>A (p.Asp257Asn) | |
| X | g.108578357G>C | CA413924417 | COL4A5 | c.754G>C (p.Asp252His) c.430G>C (p.Asp144His) c.769G>C (p.Asp257His) | gnomAD v4 |
| X | g.108578357G>T | CA413924423 | COL4A5 | c.754G>T (p.Asp252Tyr) c.430G>T (p.Asp144Tyr) c.769G>T (p.Asp257Tyr) | |
| X | g.108578358A>C | CA413924428 | COL4A5 | c.755A>C (p.Asp252Ala) c.431A>C (p.Asp144Ala) c.770A>C (p.Asp257Ala) | |
| X | g.108578358A>G | CA413924434 | COL4A5 | c.755A>G (p.Asp252Gly) c.431A>G (p.Asp144Gly) c.770A>G (p.Asp257Gly) | |
| X | g.108578358A>T | CA413924435 | COL4A5 | c.755A>T (p.Asp252Val) c.431A>T (p.Asp144Val) c.770A>T (p.Asp257Val) | |
| X | g.108578359T>A | CA413924440 | COL4A5 | c.756T>A (p.Asp252Glu) c.432T>A (p.Asp144Glu) c.771T>A (p.Asp257Glu) | |
| X | g.108578359T>C | CA10488557 | COL4A5 | c.756T>C (p.Asp252=) c.432T>C (p.Asp144=) c.771T>C (p.Asp257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578359T>G | CA413924445 | COL4A5 | c.756T>G (p.Asp252Glu) c.432T>G (p.Asp144Glu) c.771T>G (p.Asp257Glu) | |
| X | g.108578359T= | CA2450682336 | COL4A5 | c.756T= (p.Asp252=) c.432T= (p.Asp144=) c.771T= (p.Asp257=) | |
| X | g.108578359_108578360delinsTG | CA2450682337 | COL4A5 | c.756_757delinsTG (p.Asp252=) c.432_433delinsTG (p.Asp144=) c.771_772delinsTG (p.Asp257=) | |
| X | g.108578360G>A | CA10488558 | COL4A5 | c.757G>A (p.Val253Ile) c.433G>A (p.Val145Ile) c.772G>A (p.Val258Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578360G>C | CA413924451 | COL4A5 | c.757G>C (p.Val253Leu) c.433G>C (p.Val145Leu) c.772G>C (p.Val258Leu) | |
| X | g.108578360G= | CA2450682339 | COL4A5 | c.757G= (p.Val253=) c.433G= (p.Val145=) c.772G= (p.Val258=) | |
| X | g.108578360G>T | CA413924454 | COL4A5 | c.757G>T (p.Val253Leu) c.433G>T (p.Val145Leu) c.772G>T (p.Val258Leu) | |
| X | g.108578360delinsCT | CA2450682338 | COL4A5 | c.757delinsCT (p.Val253LeufsTer13) c.433delinsCT (p.Val145LeufsTer13) c.772delinsCT (p.Val258LeufsTer13) | ClinVar dbSNP |
| X | g.108578361T>A | CA413924456 | COL4A5 | c.758T>A (p.Val253Glu) c.434T>A (p.Val145Glu) c.773T>A (p.Val258Glu) | |
| X | g.108578361T>C | CA413924474 | COL4A5 | c.758T>C (p.Val253Ala) c.434T>C (p.Val145Ala) c.773T>C (p.Val258Ala) | |
| X | g.108578361T>G | CA413924459 | COL4A5 | c.758T>G (p.Val253Gly) c.434T>G (p.Val145Gly) c.773T>G (p.Val258Gly) | |
| X | g.108578361_108578363delinsTAG | CA2450682340 | COL4A5 | c.758_760delinsTAG (p.Val253=) c.434_436delinsTAG (p.Val145=) c.773_775delinsTAG (p.Val258=) | |
| X | g.108578362del | CA2579675950 | COL4A5 | c.759del (p.Glu254SerfsTer?) c.435del (p.Glu146SerfsTer?) c.774del (p.Glu259SerfsTer?) | |
| X | g.108578362A= | CA2450682341 | COL4A5 | c.759A= (p.Val253=) c.435A= (p.Val145=) c.774A= (p.Val258=) | |
| X | g.108578362A>C | CA517991814 | COL4A5 | c.759A>C (p.Val253=) c.435A>C (p.Val145=) c.774A>C (p.Val258=) | |
| X | g.108578362A>G | CA517991815 | COL4A5 | c.759A>G (p.Val253=) c.435A>G (p.Val145=) c.774A>G (p.Val258=) | dbSNP |
| X | g.108578362A>T | CA517991816 | COL4A5 | c.759A>T (p.Val253=) c.435A>T (p.Val145=) c.774A>T (p.Val258=) | |
| X | g.108578364_108578365del | CA258320 | COL4A5 | c.761_762del (p.Glu254ValfsTer11) c.437_438del (p.Glu146ValfsTer11) c.776_777del (p.Glu259ValfsTer11) | ClinVar dbSNP |
| X | g.108578363G>A | CA413924477 | COL4A5 | c.760G>A (p.Glu254Lys) c.436G>A (p.Glu146Lys) c.775G>A (p.Glu259Lys) | |
| X | g.108578363G>C | CA413924481 | COL4A5 | c.760G>C (p.Glu254Gln) c.436G>C (p.Glu146Gln) c.775G>C (p.Glu259Gln) | |
| X | g.108578363G>T | CA413924479 | COL4A5 | c.760G>T (p.Glu254Ter) c.436G>T (p.Glu146Ter) c.775G>T (p.Glu259Ter) | ClinVar |
| X | g.108578364A= | CA2450682342 | COL4A5 | c.761A= (p.Glu254=) c.437A= (p.Glu146=) c.776A= (p.Glu259=) | |
| X | g.108578364A>C | CA10488559 | COL4A5 | c.761A>C (p.Glu254Ala) c.437A>C (p.Glu146Ala) c.776A>C (p.Glu259Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578364A>G | CA413924492 | COL4A5 | c.761A>G (p.Glu254Gly) c.437A>G (p.Glu146Gly) c.776A>G (p.Glu259Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578364A>T | CA413924494 | COL4A5 | c.761A>T (p.Glu254Val) c.437A>T (p.Glu146Val) c.776A>T (p.Glu259Val) | |
| X | g.108578365G>A | CA517991817 | COL4A5 | c.762G>A (p.Glu254=) c.438G>A (p.Glu146=) c.777G>A (p.Glu259=) | |
| X | g.108578365G>C | CA413924498 | COL4A5 | c.762G>C (p.Glu254Asp) c.438G>C (p.Glu146Asp) c.777G>C (p.Glu259Asp) | |
| X | g.108578365G>T | CA413924499 | COL4A5 | c.762G>T (p.Glu254Asp) c.438G>T (p.Glu146Asp) c.777G>T (p.Glu259Asp) | |
| X | g.108578366T>A | CA413924503 | COL4A5 | c.763T>A (p.Phe255Ile) c.439T>A (p.Phe147Ile) c.778T>A (p.Phe260Ile) | |
| X | g.108578366T>C | CA413924505 | COL4A5 | c.763T>C (p.Phe255Leu) c.439T>C (p.Phe147Leu) c.778T>C (p.Phe260Leu) | |
| X | g.108578366T>G | CA413924508 | COL4A5 | c.763T>G (p.Phe255Val) c.439T>G (p.Phe147Val) c.778T>G (p.Phe260Val) | |
| X | g.108578367T>A | CA413924511 | COL4A5 | c.764T>A (p.Phe255Tyr) c.440T>A (p.Phe147Tyr) c.779T>A (p.Phe260Tyr) | |
| X | g.108578367T>C | CA413924516 | COL4A5 | c.764T>C (p.Phe255Ser) c.440T>C (p.Phe147Ser) c.779T>C (p.Phe260Ser) | |
| X | g.108578367T>G | CA413924521 | COL4A5 | c.764T>G (p.Phe255Cys) c.440T>G (p.Phe147Cys) c.779T>G (p.Phe260Cys) | |
| X | g.108578368T>A | CA413924524 | COL4A5 | c.765T>A (p.Phe255Leu) c.441T>A (p.Phe147Leu) c.780T>A (p.Phe260Leu) | |
| X | g.108578368T>C | CA517991818 | COL4A5 | c.765T>C (p.Phe255=) c.441T>C (p.Phe147=) c.780T>C (p.Phe260=) | |
| X | g.108578368T>G | CA413924526 | COL4A5 | c.765T>G (p.Phe255Leu) c.441T>G (p.Phe147Leu) c.780T>G (p.Phe260Leu) | |
| X | g.108578369C>A | CA413924545 | COL4A5 | c.766C>A (p.Gln256Lys) c.442C>A (p.Gln148Lys) c.781C>A (p.Gln261Lys) | |
| X | g.108578369C>G | CA413924539 | COL4A5 | c.766C>G (p.Gln256Glu) c.442C>G (p.Gln148Glu) c.781C>G (p.Gln261Glu) | |
| X | g.108578369C>T | CA413924543 | COL4A5 | c.766C>T (p.Gln256Ter) c.442C>T (p.Gln148Ter) c.781C>T (p.Gln261Ter) | |
| X | g.108578370A>C | CA413924550 | COL4A5 | c.767A>C (p.Gln256Pro) c.443A>C (p.Gln148Pro) c.782A>C (p.Gln261Pro) | |
| X | g.108578370A>G | CA413924552 | COL4A5 | c.767A>G (p.Gln256Arg) c.443A>G (p.Gln148Arg) c.782A>G (p.Gln261Arg) | gnomAD v4 |
| X | g.108578370A>T | CA413924556 | COL4A5 | c.767A>T (p.Gln256Leu) c.443A>T (p.Gln148Leu) c.782A>T (p.Gln261Leu) | |
| X | g.108578373_108578379del | CA2580612288 | COL4A5 | c.770_776del (p.Lys257IlefsTer?) c.446_452del (p.Lys149IlefsTer?) c.785_791del (p.Lys262IlefsTer?) | ClinVar |
| X | g.108578371G>A | CA517991819 | COL4A5 | c.768G>A (p.Gln256=) c.444G>A (p.Gln148=) c.783G>A (p.Gln261=) | COSMIC |
| X | g.108578371G>C | CA413924559 | COL4A5 | c.768G>C (p.Gln256His) c.444G>C (p.Gln148His) c.783G>C (p.Gln261His) | ClinVar dbSNP |
| X | g.108578371G>T | CA413924563 | COL4A5 | c.768G>T (p.Gln256His) c.444G>T (p.Gln148His) c.783G>T (p.Gln261His) | COSMIC COSMIC |
| X | g.108578372A>C | CA413924566 | COL4A5 | c.769A>C (p.Lys257Gln) c.445A>C (p.Lys149Gln) c.784A>C (p.Lys262Gln) | |
| X | g.108578372A>G | CA413924570 | COL4A5 | c.769A>G (p.Lys257Glu) c.445A>G (p.Lys149Glu) c.784A>G (p.Lys262Glu) | |
| X | g.108578372A>T | CA413924573 | COL4A5 | c.769A>T (p.Lys257Ter) c.445A>T (p.Lys149Ter) c.784A>T (p.Lys262Ter) | |
| X | g.108578373A>C | CA413924575 | COL4A5 | c.770A>C (p.Lys257Thr) c.446A>C (p.Lys149Thr) c.785A>C (p.Lys262Thr) | |
| X | g.108578373A>G | CA413924576 | COL4A5 | c.770A>G (p.Lys257Arg) c.446A>G (p.Lys149Arg) c.785A>G (p.Lys262Arg) | |
| X | g.108578373A>T | CA413924580 | COL4A5 | c.770A>T (p.Lys257Ile) c.446A>T (p.Lys149Ile) c.785A>T (p.Lys262Ile) | |
| X | g.108578374A= | CA2450682343 | COL4A5 | c.771A= (p.Lys257=) c.447A= (p.Lys149=) c.786A= (p.Lys262=) | |
| X | g.108578374A>C | CA413924585 | COL4A5 | c.771A>C (p.Lys257Asn) c.447A>C (p.Lys149Asn) c.786A>C (p.Lys262Asn) | |
| X | g.108578374A>G | CA517991820 | COL4A5 | c.771A>G (p.Lys257=) c.447A>G (p.Lys149=) c.786A>G (p.Lys262=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578374A>T | CA413924584 | COL4A5 | c.771A>T (p.Lys257Asn) c.447A>T (p.Lys149Asn) c.786A>T (p.Lys262Asn) | |
| X | g.108578375G>A | CA413924589 | COL4A5 | c.772G>A (p.Gly258Arg) c.448G>A (p.Gly150Arg) c.787G>A (p.Gly263Arg) | |
| X | g.108578375G>C | CA413924591 | COL4A5 | c.772G>C (p.Gly258Arg) c.448G>C (p.Gly150Arg) c.787G>C (p.Gly263Arg) | |
| X | g.108578375G>T | CA413924593 | COL4A5 | c.772G>T (p.Gly258Ter) c.448G>T (p.Gly150Ter) c.787G>T (p.Gly263Ter) | COSMIC COSMIC |
| X | g.108578376G>A | CA334180282 | COL4A5 | c.773G>A (p.Gly258Glu) c.449G>A (p.Gly150Glu) c.788G>A (p.Gly263Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108578376G>C | CA413924599 | COL4A5 | c.773G>C (p.Gly258Ala) c.449G>C (p.Gly150Ala) c.788G>C (p.Gly263Ala) | |
| X | g.108578376G= | CA2450682344 | COL4A5 | c.773G= (p.Gly258=) c.449G= (p.Gly150=) c.788G= (p.Gly263=) | |
| X | g.108578376G>T | CA413924601 | COL4A5 | c.773G>T (p.Gly258Val) c.449G>T (p.Gly150Val) c.788G>T (p.Gly263Val) | |
| X | g.108578377A>C | CA517991821 | COL4A5 | c.774A>C (p.Gly258=) c.450A>C (p.Gly150=) c.789A>C (p.Gly263=) | |
| X | g.108578377A>G | CA517991822 | COL4A5 | c.774A>G (p.Gly258=) c.450A>G (p.Gly150=) c.789A>G (p.Gly263=) | |
| X | g.108578377A>T | CA517991823 | COL4A5 | c.774A>T (p.Gly258=) c.450A>T (p.Gly150=) c.789A>T (p.Gly263=) | |
| X | g.108578378G>A | CA10488560 | COL4A5 | c.775G>A (p.Asp259Asn) c.451G>A (p.Asp151Asn) c.790G>A (p.Asp264Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578378G>C | CA413924603 | COL4A5 | c.775G>C (p.Asp259His) c.451G>C (p.Asp151His) c.790G>C (p.Asp264His) | dbSNP gnomAD v2 |
| X | g.108578378G= | CA2450682345 | COL4A5 | c.775G= (p.Asp259=) c.451G= (p.Asp151=) c.790G= (p.Asp264=) | |
| X | g.108578378G>T | CA413924606 | COL4A5 | c.775G>T (p.Asp259Tyr) c.451G>T (p.Asp151Tyr) c.790G>T (p.Asp264Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578379A>C | CA413924611 | COL4A5 | c.776A>C (p.Asp259Ala) c.452A>C (p.Asp151Ala) c.791A>C (p.Asp264Ala) | |
| X | g.108578379A>G | CA413924615 | COL4A5 | c.776A>G (p.Asp259Gly) c.452A>G (p.Asp151Gly) c.791A>G (p.Asp264Gly) | |
| X | g.108578379A>T | CA413924617 | COL4A5 | c.776A>T (p.Asp259Val) c.452A>T (p.Asp151Val) c.791A>T (p.Asp264Val) | |
| X | g.108578380T>A | CA413924620 | COL4A5 | c.777T>A (p.Asp259Glu) c.453T>A (p.Asp151Glu) c.792T>A (p.Asp264Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578380T>C | CA517991824 | COL4A5 | c.777T>C (p.Asp259=) c.453T>C (p.Asp151=) c.792T>C (p.Asp264=) | |
| X | g.108578380T>G | CA413924623 | COL4A5 | c.777T>G (p.Asp259Glu) c.453T>G (p.Asp151Glu) c.792T>G (p.Asp264Glu) | |
| X | g.108578380T= | CA2450682346 | COL4A5 | c.777T= (p.Asp259=) c.453T= (p.Asp151=) c.792T= (p.Asp264=) | |
| X | g.108578381C>A | CA413924626 | COL4A5 | c.778C>A (p.Gln260Lys) c.454C>A (p.Gln152Lys) c.793C>A (p.Gln265Lys) | |
| X | g.108578381C>G | CA413924632 | COL4A5 | c.778C>G (p.Gln260Glu) c.454C>G (p.Gln152Glu) c.793C>G (p.Gln265Glu) | |
| X | g.108578381C>T | CA413924630 | COL4A5 | c.778C>T (p.Gln260Ter) c.454C>T (p.Gln152Ter) c.793C>T (p.Gln265Ter) | COSMIC |
| X | g.108578382A= | CA2450682347 | COL4A5 | c.779A= (p.Gln260=) c.455A= (p.Gln152=) c.794A= (p.Gln265=) | |
| X | g.108578382A>C | CA413924635 | COL4A5 | c.779A>C (p.Gln260Pro) c.455A>C (p.Gln152Pro) c.794A>C (p.Gln265Pro) | ClinVar |
| X | g.108578382A>G | CA10488561 | COL4A5 | c.779A>G (p.Gln260Arg) c.455A>G (p.Gln152Arg) c.794A>G (p.Gln265Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578382A>T | CA413924648 | COL4A5 | c.779A>T (p.Gln260Leu) c.455A>T (p.Gln152Leu) c.794A>T (p.Gln265Leu) | |
| X | g.108578383G>A | CA517991825 | COL4A5 | c.780G>A (p.Gln260=) c.456G>A (p.Gln152=) c.795G>A (p.Gln265=) | gnomAD v4 |
| X | g.108578383G>C | CA413924651 | COL4A5 | c.780G>C (p.Gln260His) c.456G>C (p.Gln152His) c.795G>C (p.Gln265His) | |
| X | g.108578383G>T | CA413924655 | COL4A5 | c.780G>T (p.Gln260His) c.456G>T (p.Gln152His) c.795G>T (p.Gln265His) | |
| X | g.108578384G>A | CA413924659 | COL4A5 | c.780+1G>A (n.780+1G>A) c.456+1G>A (n.456+1G>A) c.795+1G>A (n.795+1G>A) | ClinVar |
| X | g.108578384G>C | CA413924662 | COL4A5 | c.780+1G>C (n.780+1G>C) c.456+1G>C (n.456+1G>C) c.795+1G>C (n.795+1G>C) | |
| X | g.108578384G= | CA2450682348 | COL4A5 | c.780+1G= (n.780+1G=) c.456+1G= (n.456+1G=) c.795+1G= (n.795+1G=) | |
| X | g.108578384G>T | CA10488562 | COL4A5 | c.780+1G>T (n.780+1G>T) c.456+1G>T (n.456+1G>T) c.795+1G>T (n.795+1G>T) | dbSNP ExAC gnomAD v2 |
| X | g.108578385T>A | CA413924671 | COL4A5 | c.780+2T>A (n.780+2T>A) c.456+2T>A (n.456+2T>A) c.795+2T>A (n.795+2T>A) | dbSNP |
| X | g.108578385T>C | CA413924674 | COL4A5 | c.780+2T>C (n.780+2T>C) c.456+2T>C (n.456+2T>C) c.795+2T>C (n.795+2T>C) | |
| X | g.108578385T>G | CA258321 | COL4A5 | c.780+2T>G (n.780+2T>G) c.456+2T>G (n.456+2T>G) c.795+2T>G (n.795+2T>G) | dbSNP |
| X | g.108578385T= | CA2450682349 | COL4A5 | c.780+2T= (n.780+2T=) c.456+2T= (n.456+2T=) c.795+2T= (n.795+2T=) | |
| X | g.108578386G>A | CA2694412355 | COL4A5 | c.780+3G>A (n.780+3G>A) c.456+3G>A (n.456+3G>A) c.795+3G>A (n.795+3G>A) | gnomAD v4 |
| X | g.108578387A>G | CA2694412357 | COL4A5 | c.780+4A>G (n.780+4A>G) c.456+4A>G (n.456+4A>G) c.795+4A>G (n.795+4A>G) | gnomAD v4 |
| X | g.108578388G>A | CA645608362 | COL4A5 | c.780+5G>A (n.780+5G>A) c.456+5G>A (n.456+5G>A) c.795+5G>A (n.795+5G>A) | COSMIC COSMIC |
| X | g.108578388G= | CA2450682350 | COL4A5 | c.780+5G= (n.780+5G=) c.456+5G= (n.456+5G=) c.795+5G= (n.795+5G=) | |
| X | g.108578389T>A | CA2694412358 | COL4A5 | c.780+6T>A (n.780+6T>A) c.456+6T>A (n.456+6T>A) c.795+6T>A (n.795+6T>A) | gnomAD v4 |
| X | g.108578390A= | CA2450682351 | COL4A5 | c.780+7A= (n.780+7A=) c.456+7A= (n.456+7A=) c.795+7A= (n.795+7A=) | |
| X | g.108578390A>C | CA2579675951 | COL4A5 | c.780+7A>C (n.780+7A>C) c.456+7A>C (n.456+7A>C) c.795+7A>C (n.795+7A>C) | |
| X | g.108578390A>G | CA10488563 | COL4A5 | c.780+7A>G (n.780+7A>G) c.456+7A>G (n.456+7A>G) c.795+7A>G (n.795+7A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.108578391del | CA2694412361 | COL4A5 | c.780+8del (n.780+8del) c.456+8del (n.456+8del) c.795+8del (n.795+8del) | gnomAD v4 |
| X | g.108578391A>T | CA2694412362 | COL4A5 | c.780+8A>T (n.780+8A>T) c.456+8A>T (n.456+8A>T) c.795+8A>T (n.795+8A>T) | gnomAD v4 |
| X | g.108578393T>G | CA2499226300 | COL4A5 | c.780+10T>G (n.780+10T>G) c.456+10T>G (n.456+10T>G) c.795+10T>G (n.795+10T>G) | ClinVar dbSNP |
| X | g.108578394A>G | CA2694412363 | COL4A5 | c.780+11A>G (n.780+11A>G) c.456+11A>G (n.456+11A>G) c.795+11A>G (n.795+11A>G) | gnomAD v4 |
| X | g.108578394A>T | CA2694412364 | COL4A5 | c.780+11A>T (n.780+11A>T) c.456+11A>T (n.456+11A>T) c.795+11A>T (n.795+11A>T) | gnomAD v4 |
| X | g.108578394_108578395insT | CA2579675952 | COL4A5 | c.780+11_780+12insT (n.780+11_780+12insT) c.456+11_456+12insT (n.456+11_456+12insT) c.795+11_795+12insT (n.795+11_795+12insT) | |
| X | g.108578395G>A | CA2694412366 | COL4A5 | c.780+12G>A (n.780+12G>A) c.456+12G>A (n.456+12G>A) c.795+12G>A (n.795+12G>A) | gnomAD v4 |
| X | g.108578395G>T | CA2579675953 | COL4A5 | c.780+12G>T (n.780+12G>T) c.456+12G>T (n.456+12G>T) c.795+12G>T (n.795+12G>T) | |
| X | g.108578397G>C | CA10488564 | COL4A5 | c.780+14G>C (n.780+14G>C) c.456+14G>C (n.456+14G>C) c.795+14G>C (n.795+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578397G= | CA2450682352 | COL4A5 | c.780+14G= (n.780+14G=) c.456+14G= (n.456+14G=) c.795+14G= (n.795+14G=) | |
| X | g.108578398A>G | CA2694412373 | COL4A5 | c.780+15A>G (n.780+15A>G) c.456+15A>G (n.456+15A>G) c.795+15A>G (n.795+15A>G) | gnomAD v4 |
| X | g.108578399G>A | CA1136179094 | COL4A5 | c.780+16G>A (n.780+16G>A) c.456+16G>A (n.456+16G>A) c.795+16G>A (n.795+16G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578399G= | CA2450682353 | COL4A5 | c.780+16G= (n.780+16G=) c.456+16G= (n.456+16G=) c.795+16G= (n.795+16G=) | |
| X | g.108578402A>G | CA2822894633 | COL4A5 | c.780+19A>G (n.780+19A>G) c.456+19A>G (n.456+19A>G) c.795+19A>G (n.795+19A>G) | |
| X | g.108578402A>T | CA2739273683 | COL4A5 | c.780+19A>T (n.780+19A>T) c.456+19A>T (n.456+19A>T) c.795+19A>T (n.795+19A>T) | ClinVar |
| X | g.108578404T>A | CA2579675954 | COL4A5 | c.780+21T>A (n.780+21T>A) c.456+21T>A (n.456+21T>A) c.795+21T>A (n.795+21T>A) | |
| X | g.108578404T>C | CA2694412375 | COL4A5 | c.780+21T>C (n.780+21T>C) c.456+21T>C (n.456+21T>C) c.795+21T>C (n.795+21T>C) | gnomAD v4 |
| X | g.108578405C>A | CA2579675955 | COL4A5 | c.780+22C>A (n.780+22C>A) c.456+22C>A (n.456+22C>A) c.795+22C>A (n.795+22C>A) | gnomAD v4 |
| X | g.108578406A= | CA2450682354 | COL4A5 | c.780+23A= (n.780+23A=) c.456+23A= (n.456+23A=) c.795+23A= (n.795+23A=) | |
| X | g.108578406A>G | CA869820412 | COL4A5 | c.780+23A>G (n.780+23A>G) c.456+23A>G (n.456+23A>G) c.795+23A>G (n.795+23A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578407A= | CA2450682355 | COL4A5 | c.780+24A= (n.780+24A=) c.456+24A= (n.456+24A=) c.795+24A= (n.795+24A=) | |
| X | g.108578407A>G | CA10488565 | COL4A5 | c.780+24A>G (n.780+24A>G) c.456+24A>G (n.456+24A>G) c.795+24A>G (n.795+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578408T>C | CA2694412382 | COL4A5 | c.780+25T>C (n.780+25T>C) c.456+25T>C (n.456+25T>C) c.795+25T>C (n.795+25T>C) | gnomAD v4 |
| X | g.108578409G>A | CA643749963 | COL4A5 | c.780+26G>A (n.780+26G>A) c.456+26G>A (n.456+26G>A) c.795+26G>A (n.795+26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578409G= | CA2450682356 | COL4A5 | c.780+26G= (n.780+26G=) c.456+26G= (n.456+26G=) c.795+26G= (n.795+26G=) | |
| X | g.108578409G>T | CA10488566 | COL4A5 | c.780+26G>T (n.780+26G>T) c.456+26G>T (n.456+26G>T) c.795+26G>T (n.795+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578413A= | CA2450682357 | COL4A5 | c.780+30A= (n.780+30A=) c.456+30A= (n.456+30A=) c.795+30A= (n.795+30A=) | |
| X | g.108578413A>T | CA869820413 | COL4A5 | c.780+30A>T (n.780+30A>T) c.456+30A>T (n.456+30A>T) c.795+30A>T (n.795+30A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578414T>C | CA1136179105 | COL4A5 | c.780+31T>C (n.780+31T>C) c.456+31T>C (n.456+31T>C) c.795+31T>C (n.795+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578414T= | CA2450682358 | COL4A5 | c.780+31T= (n.780+31T=) c.456+31T= (n.456+31T=) c.795+31T= (n.795+31T=) | |
| X | g.108578415C>A | CA2694412390 | COL4A5 | c.780+32C>A (n.780+32C>A) c.456+32C>A (n.456+32C>A) c.795+32C>A (n.795+32C>A) | gnomAD v4 |
| X | g.108578416T>C | CA2579675956 | COL4A5 | c.780+33T>C (n.780+33T>C) c.456+33T>C (n.456+33T>C) c.795+33T>C (n.795+33T>C) | |
| X | g.108578417T>C | CA2694412393 | COL4A5 | c.780+34T>C (n.780+34T>C) c.456+34T>C (n.456+34T>C) c.795+34T>C (n.795+34T>C) | gnomAD v4 |
| X | g.108578419_108578429del | CA2694412392 | COL4A5 | c.780+36_780+46del (n.780+36_780+46del) c.456+36_456+46del (n.456+36_456+46del) c.795+36_795+46del (n.795+36_795+46del) | gnomAD v4 |
| X | g.108578418G>A | CA10488567 | COL4A5 | c.780+35G>A (n.780+35G>A) c.456+35G>A (n.456+35G>A) c.795+35G>A (n.795+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578418G= | CA2450682359 | COL4A5 | c.780+35G= (n.780+35G=) c.456+35G= (n.456+35G=) c.795+35G= (n.795+35G=) | |
| X | g.108578418G>T | CA2694412399 | COL4A5 | c.780+35G>T (n.780+35G>T) c.456+35G>T (n.456+35G>T) c.795+35G>T (n.795+35G>T) | gnomAD v4 |
| X | g.108578419C>T | CA658421371 | COL4A5 | c.780+36C>T (n.780+36C>T) c.456+36C>T (n.456+36C>T) c.795+36C>T (n.795+36C>T) | COSMIC COSMIC |
| X | g.108578421A= | CA2450682360 | COL4A5 | c.780+38A= (n.780+38A=) c.456+38A= (n.456+38A=) c.795+38A= (n.795+38A=) | |
| X | g.108578421A>C | CA2579675957 | COL4A5 | c.780+38A>C (n.780+38A>C) c.456+38A>C (n.456+38A>C) c.795+38A>C (n.795+38A>C) | |
| X | g.108578421A>G | CA1136179110 | COL4A5 | c.780+38A>G (n.780+38A>G) c.456+38A>G (n.456+38A>G) c.795+38A>G (n.795+38A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578423G>A | CA2510454402 | COL4A5 | c.780+40G>A (n.780+40G>A) c.456+40G>A (n.456+40G>A) c.795+40G>A (n.795+40G>A) | |
| X | g.108578425A>C | CA2694412404 | COL4A5 | c.780+42A>C (n.780+42A>C) c.456+42A>C (n.456+42A>C) c.795+42A>C (n.795+42A>C) | gnomAD v4 |
| X | g.108578425A>G | CA2579675958 | COL4A5 | c.780+42A>G (n.780+42A>G) c.456+42A>G (n.456+42A>G) c.795+42A>G (n.795+42A>G) | |
| X | g.108578427A>G | CA2694412408 | COL4A5 | c.780+44A>G (n.780+44A>G) c.456+44A>G (n.456+44A>G) c.795+44A>G (n.795+44A>G) | gnomAD v4 |
| X | g.108578427A>T | CA2572270623 | COL4A5 | c.780+44A>T (n.780+44A>T) c.456+44A>T (n.456+44A>T) c.795+44A>T (n.795+44A>T) | |
| X | g.108578428T>C | CA643749964 | COL4A5 | c.780+45T>C (n.780+45T>C) c.456+45T>C (n.456+45T>C) c.795+45T>C (n.795+45T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578428T= | CA2450682361 | COL4A5 | c.780+45T= (n.780+45T=) c.456+45T= (n.456+45T=) c.795+45T= (n.795+45T=) | |
| X | g.108578429G>A | CA2450682364 | COL4A5 | c.780+46G>A (n.780+46G>A) c.456+46G>A (n.456+46G>A) c.795+46G>A (n.795+46G>A) | dbSNP |
| X | g.108578429G= | CA2450682363 | COL4A5 | c.780+46G= (n.780+46G=) c.456+46G= (n.456+46G=) c.795+46G= (n.795+46G=) | |
| X | g.108578429_108578433delinsGTTAA | CA2450682362 | COL4A5 | c.780+46_780+50delinsGTTAA (n.780+46_780+50delinsGTTAA) c.456+46_456+50delinsGTTAA (n.456+46_456+50delinsGTTAA) c.795+46_795+50delinsGTTAA (n.795+46_795+50delinsGTTAA) | |
| X | g.108578430T>C | CA2738910320 | COL4A5 | c.780+47T>C (n.780+47T>C) c.456+47T>C (n.456+47T>C) c.795+47T>C (n.795+47T>C) | dbSNP |
| X | g.108578433_108578436del | CA869820414 | COL4A5 | c.780+50_780+53del (n.780+50_780+53del) c.456+50_456+53del (n.456+50_456+53del) c.795+50_795+53del (n.795+50_795+53del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578432A>C | CA915909711 | COL4A5 | c.780+49A>C (n.780+49A>C) c.456+49A>C (n.456+49A>C) c.795+49A>C (n.795+49A>C) | gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578433del | CA2694412414 | COL4A5 | c.780+50del (n.780+50del) c.456+50del (n.456+50del) c.795+50del (n.795+50del) | gnomAD v4 |
| X | g.108578435T>A | CA2694412416 | COL4A5 | c.780+52T>A (n.780+52T>A) c.456+52T>A (n.456+52T>A) c.795+52T>A (n.795+52T>A) | gnomAD v4 |