Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578220_108578224delCA2694412205COL4A5c.688-71_688-67del (n.688-71_688-67del)
c.364-71_364-67del (n.364-71_364-67del)
c.703-71_703-67del (n.703-71_703-67del)
 gnomAD v4
Xg.108578219A>TCA2694412210COL4A5c.688-72A>T (n.688-72A>T)
c.364-72A>T (n.364-72A>T)
c.703-72A>T (n.703-72A>T)
 gnomAD v4
Xg.108578221C=CA2450682285COL4A5c.688-70C= (n.688-70C=)
c.364-70C= (n.364-70C=)
c.703-70C= (n.703-70C=)
Xg.108578221C>GCA2450682286COL4A5c.688-70C>G (n.688-70C>G)
c.364-70C>G (n.364-70C>G)
c.703-70C>G (n.703-70C>G)
 dbSNP gnomAD v4
Xg.108578221C>TCA2694412211COL4A5c.688-70C>T (n.688-70C>T)
c.364-70C>T (n.364-70C>T)
c.703-70C>T (n.703-70C>T)
 gnomAD v4
Xg.108578224A=CA2450682287COL4A5c.688-67A= (n.688-67A=)
c.364-67A= (n.364-67A=)
c.703-67A= (n.703-67A=)
Xg.108578224A>GCA869820409COL4A5c.688-67A>G (n.688-67A>G)
c.364-67A>G (n.364-67A>G)
c.703-67A>G (n.703-67A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578225C>TCA2694412212COL4A5c.688-66C>T (n.688-66C>T)
c.364-66C>T (n.364-66C>T)
c.703-66C>T (n.703-66C>T)
 gnomAD v4
Xg.108578227T>CCA1136179053COL4A5c.688-64T>C (n.688-64T>C)
c.364-64T>C (n.364-64T>C)
c.703-64T>C (n.703-64T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578227T=CA2450682288COL4A5c.688-64T= (n.688-64T=)
c.364-64T= (n.364-64T=)
c.703-64T= (n.703-64T=)
Xg.108578228G>ACA334180252COL4A5c.688-63G>A (n.688-63G>A)
c.364-63G>A (n.364-63G>A)
c.703-63G>A (n.703-63G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578228G=CA2450682289COL4A5c.688-63G= (n.688-63G=)
c.364-63G= (n.364-63G=)
c.703-63G= (n.703-63G=)
Xg.108578228G>TCA658421369COL4A5c.688-63G>T (n.688-63G>T)
c.364-63G>T (n.364-63G>T)
c.703-63G>T (n.703-63G>T)
 COSMIC
Xg.108578230T>GCA2694412213COL4A5c.688-61T>G (n.688-61T>G)
c.364-61T>G (n.364-61T>G)
c.703-61T>G (n.703-61T>G)
 gnomAD v4
Xg.108578231A=CA2450682290COL4A5c.688-60A= (n.688-60A=)
c.364-60A= (n.364-60A=)
c.703-60A= (n.703-60A=)
Xg.108578231A>GCA1136179056COL4A5c.688-60A>G (n.688-60A>G)
c.364-60A>G (n.364-60A>G)
c.703-60A>G (n.703-60A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578233A=CA2450682291COL4A5c.688-58A= (n.688-58A=)
c.364-58A= (n.364-58A=)
c.703-58A= (n.703-58A=)
Xg.108578233A>GCA2450682292COL4A5c.688-58A>G (n.688-58A>G)
c.364-58A>G (n.364-58A>G)
c.703-58A>G (n.703-58A>G)
 dbSNP
Xg.108578235T>CCA334180254COL4A5c.688-56T>C (n.688-56T>C)
c.364-56T>C (n.364-56T>C)
c.703-56T>C (n.703-56T>C)
 dbSNP
Xg.108578235T=CA2450682293COL4A5c.688-56T= (n.688-56T=)
c.364-56T= (n.364-56T=)
c.703-56T= (n.703-56T=)
Xg.108578236A>GCA2579675943COL4A5c.688-55A>G (n.688-55A>G)
c.364-55A>G (n.364-55A>G)
c.703-55A>G (n.703-55A>G)
Xg.108578236A>TCA2694412214COL4A5c.688-55A>T (n.688-55A>T)
c.364-55A>T (n.364-55A>T)
c.703-55A>T (n.703-55A>T)
 gnomAD v4
Xg.108578237C>ACA2579675944COL4A5c.688-54C>A (n.688-54C>A)
c.364-54C>A (n.364-54C>A)
c.703-54C>A (n.703-54C>A)
Xg.108578238T>GCA2694412215COL4A5c.688-53T>G (n.688-53T>G)
c.364-53T>G (n.364-53T>G)
c.703-53T>G (n.703-53T>G)
 gnomAD v4
Xg.108578238T=CA2450682294COL4A5c.688-53T= (n.688-53T=)
c.364-53T= (n.364-53T=)
c.703-53T= (n.703-53T=)
Xg.108578239dupCA334180256COL4A5c.688-52dup (n.688-52dup)
c.364-52dup (n.364-52dup)
c.703-52dup (n.703-52dup)
 dbSNP
Xg.108578240T>ACA2694412216COL4A5c.688-51T>A (n.688-51T>A)
c.364-51T>A (n.364-51T>A)
c.703-51T>A (n.703-51T>A)
 gnomAD v4
Xg.108578241C>ACA2694412219COL4A5c.688-50C>A (n.688-50C>A)
c.364-50C>A (n.364-50C>A)
c.703-50C>A (n.703-50C>A)
 gnomAD v4
Xg.108578241C>GCA2694412217COL4A5c.688-50C>G (n.688-50C>G)
c.364-50C>G (n.364-50C>G)
c.703-50C>G (n.703-50C>G)
 gnomAD v4
Xg.108578241C>TCA2694412218COL4A5c.688-50C>T (n.688-50C>T)
c.364-50C>T (n.364-50C>T)
c.703-50C>T (n.703-50C>T)
 gnomAD v4
Xg.108578242T>GCA643749935COL4A5c.688-49T>G (n.688-49T>G)
c.364-49T>G (n.364-49T>G)
c.703-49T>G (n.703-49T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578242T=CA2450682295COL4A5c.688-49T= (n.688-49T=)
c.364-49T= (n.364-49T=)
c.703-49T= (n.703-49T=)
Xg.108578244T>CCA10488546COL4A5c.688-47T>C (n.688-47T>C)
c.364-47T>C (n.364-47T>C)
c.703-47T>C (n.703-47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578244T=CA2450682296COL4A5c.688-47T= (n.688-47T=)
c.364-47T= (n.364-47T=)
c.703-47T= (n.703-47T=)
Xg.108578245G>TCA2579675945COL4A5c.688-46G>T (n.688-46G>T)
c.364-46G>T (n.364-46G>T)
c.703-46G>T (n.703-46G>T)
Xg.108578246G>ACA2579675946COL4A5c.688-45G>A (n.688-45G>A)
c.364-45G>A (n.364-45G>A)
c.703-45G>A (n.703-45G>A)
Xg.108578249A>GCA2694412222COL4A5c.688-42A>G (n.688-42A>G)
c.364-42A>G (n.364-42A>G)
c.703-42A>G (n.703-42A>G)
 gnomAD v4
Xg.108578250T>CCA643749938COL4A5c.688-41T>C (n.688-41T>C)
c.364-41T>C (n.364-41T>C)
c.703-41T>C (n.703-41T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578250T=CA2450682297COL4A5c.688-41T= (n.688-41T=)
c.364-41T= (n.364-41T=)
c.703-41T= (n.703-41T=)
Xg.108578251T>GCA10488547COL4A5c.688-40T>G (n.688-40T>G)
c.364-40T>G (n.364-40T>G)
c.703-40T>G (n.703-40T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578251T=CA2450682298COL4A5c.688-40T= (n.688-40T=)
c.364-40T= (n.364-40T=)
c.703-40T= (n.703-40T=)
Xg.108578252A=CA2450682299COL4A5c.688-39A= (n.688-39A=)
c.364-39A= (n.364-39A=)
c.703-39A= (n.703-39A=)
Xg.108578252A>GCA10488548COL4A5c.688-39A>G (n.688-39A>G)
c.364-39A>G (n.364-39A>G)
c.703-39A>G (n.703-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578253T>ACA2579675947COL4A5c.688-38T>A (n.688-38T>A)
c.364-38T>A (n.364-38T>A)
c.703-38T>A (n.703-38T>A)
Xg.108578253T>CCA2579675948COL4A5c.688-38T>C (n.688-38T>C)
c.364-38T>C (n.364-38T>C)
c.703-38T>C (n.703-38T>C)
 gnomAD v4
Xg.108578256A=CA2450682300COL4A5c.688-35A= (n.688-35A=)
c.364-35A= (n.364-35A=)
c.703-35A= (n.703-35A=)
Xg.108578256A>GCA869820410COL4A5c.688-35A>G (n.688-35A>G)
c.364-35A>G (n.364-35A>G)
c.703-35A>G (n.703-35A>G)
 dbSNP
Xg.108578257G>ACA2822894593COL4A5c.688-34G>A (n.688-34G>A)
c.364-34G>A (n.364-34G>A)
c.703-34G>A (n.703-34G>A)
Xg.108578258T>CCA2822894595COL4A5c.688-33T>C (n.688-33T>C)
c.364-33T>C (n.364-33T>C)
c.703-33T>C (n.703-33T>C)
Xg.108578261C>GCA2694412227COL4A5c.688-30C>G (n.688-30C>G)
c.364-30C>G (n.364-30C>G)
c.703-30C>G (n.703-30C>G)
 gnomAD v4
Xg.108578263C>ACA2694412229COL4A5c.688-28C>A (n.688-28C>A)
c.364-28C>A (n.364-28C>A)
c.703-28C>A (n.703-28C>A)
 gnomAD v4
Xg.108578263C=CA2450682301COL4A5c.688-28C= (n.688-28C=)
c.364-28C= (n.364-28C=)
c.703-28C= (n.703-28C=)
Xg.108578263C>TCA2450682302COL4A5c.688-28C>T (n.688-28C>T)
c.364-28C>T (n.364-28C>T)
c.703-28C>T (n.703-28C>T)
 dbSNP
Xg.108578264delCA2694412228COL4A5c.688-27del (n.688-27del)
c.364-27del (n.364-27del)
c.703-27del (n.703-27del)
 gnomAD v4
Xg.108578264C>TCA2694412231COL4A5c.688-27C>T (n.688-27C>T)
c.364-27C>T (n.364-27C>T)
c.703-27C>T (n.703-27C>T)
 gnomAD v4
Xg.108578266_108578267insATCA2694412233COL4A5c.688-25_688-24insAT (n.688-25_688-24insAT)
c.364-25_364-24insAT (n.364-25_364-24insAT)
c.703-25_703-24insAT (n.703-25_703-24insAT)
 gnomAD v4
Xg.108578268_108578270delCA2694412235COL4A5c.688-23_688-21del (n.688-23_688-21del)
c.364-23_364-21del (n.364-23_364-21del)
c.703-23_703-21del (n.703-23_703-21del)
 gnomAD v4
Xg.108578274T>CCA658421370COL4A5c.688-17T>C (n.688-17T>C)
c.364-17T>C (n.364-17T>C)
c.703-17T>C (n.703-17T>C)
 COSMIC
Xg.108578277T>CCA10488549COL4A5c.688-14T>C (n.688-14T>C)
c.364-14T>C (n.364-14T>C)
c.703-14T>C (n.703-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578277T=CA2450682303COL4A5c.688-14T= (n.688-14T=)
c.364-14T= (n.364-14T=)
c.703-14T= (n.703-14T=)
Xg.108578278_108578281delinsATCTCA2450682304COL4A5c.688-13_688-10delinsATCT (n.688-13_688-10delinsATCT)
c.364-13_364-10delinsATCT (n.364-13_364-10delinsATCT)
c.703-13_703-10delinsATCT (n.703-13_703-10delinsATCT)
Xg.108578279T>CCA869820411COL4A5c.688-12T>C (n.688-12T>C)
c.364-12T>C (n.364-12T>C)
c.703-12T>C (n.703-12T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578279T=CA2450682306COL4A5c.688-12T= (n.688-12T=)
c.364-12T= (n.364-12T=)
c.703-12T= (n.703-12T=)
Xg.108578280_108578282delCA2450682305COL4A5c.688-11_688-9del (n.688-11_688-9del)
c.364-11_364-9del (n.364-11_364-9del)
c.703-11_703-9del (n.703-11_703-9del)
 dbSNP
Xg.108578280C>ACA2694412237COL4A5c.688-11C>A (n.688-11C>A)
c.364-11C>A (n.364-11C>A)
c.703-11C>A (n.703-11C>A)
 gnomAD v4
Xg.108578280C=CA2450682307COL4A5c.688-11C= (n.688-11C=)
c.364-11C= (n.364-11C=)
c.703-11C= (n.703-11C=)
Xg.108578280C>TCA10488550COL4A5c.688-11C>T (n.688-11C>T)
c.364-11C>T (n.364-11C>T)
c.703-11C>T (n.703-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578283G>ACA1136179069COL4A5c.688-8G>A (n.688-8G>A)
c.364-8G>A (n.364-8G>A)
c.703-8G>A (n.703-8G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108578283G=CA2450682308COL4A5c.688-8G= (n.688-8G=)
c.364-8G= (n.364-8G=)
c.703-8G= (n.703-8G=)
Xg.108578284C>ACA2694412239COL4A5c.688-7C>A (n.688-7C>A)
c.364-7C>A (n.364-7C>A)
c.703-7C>A (n.703-7C>A)
 gnomAD v4
Xg.108578284C=CA2450682309COL4A5c.688-7C= (n.688-7C=)
c.364-7C= (n.364-7C=)
c.703-7C= (n.703-7C=)
Xg.108578284C>GCA2450682310COL4A5c.688-7C>G (n.688-7C>G)
c.364-7C>G (n.364-7C>G)
c.703-7C>G (n.703-7C>G)
 ClinVar dbSNP gnomAD v4
Xg.108578286A>CCA2694412240COL4A5c.688-5A>C (n.688-5A>C)
c.364-5A>C (n.364-5A>C)
c.703-5A>C (n.703-5A>C)
 gnomAD v4
Xg.108578288C=CA2450682311COL4A5c.688-3C= (n.688-3C=)
c.364-3C= (n.364-3C=)
c.703-3C= (n.703-3C=)
Xg.108578288C>GCA258311COL4A5c.688-3C>G (n.688-3C>G)
c.364-3C>G (n.364-3C>G)
c.703-3C>G (n.703-3C>G)
 dbSNP
Xg.108578289A>CCA413923999COL4A5c.688-2A>C (n.688-2A>C)
c.364-2A>C (n.364-2A>C)
c.703-2A>C (n.703-2A>C)
Xg.108578289A>GCA413924003COL4A5c.688-2A>G (n.688-2A>G)
c.364-2A>G (n.364-2A>G)
c.703-2A>G (n.703-2A>G)
Xg.108578289A>TCA413924004COL4A5c.688-2A>T (n.688-2A>T)
c.364-2A>T (n.364-2A>T)
c.703-2A>T (n.703-2A>T)
Xg.108578289_108578290delinsAGCA2450682312COL4A5c.688-2_688-1delinsAG (n.688-2_688-1delinsAG)
c.364-2_364-1delinsAG (n.364-2_364-1delinsAG)
c.703-2_703-1delinsAG (n.703-2_703-1delinsAG)
Xg.108578290G>ACA413924005COL4A5c.688-1G>A (n.688-1G>A)
c.364-1G>A (n.364-1G>A)
c.703-1G>A (n.703-1G>A)
Xg.108578290G>CCA413924006COL4A5c.688-1G>C (n.688-1G>C)
c.364-1G>C (n.364-1G>C)
c.703-1G>C (n.703-1G>C)
Xg.108578290G>TCA413924007COL4A5c.688-1G>T (n.688-1G>T)
c.364-1G>T (n.364-1G>T)
c.703-1G>T (n.703-1G>T)
Xg.108578292delCA258314COL4A5c.689del
c.365del
c.704del
 dbSNP gnomAD v4
Xg.108578291G>ACA413924010COL4A5c.688G>A (p.Gly230Ser)
c.364G>A (p.Gly122Ser)
c.703G>A (p.Gly235Ser)
Xg.108578291G>CCA258312COL4A5c.688G>C (p.Gly230Arg)
c.364G>C (p.Gly122Arg)
c.703G>C (p.Gly235Arg)
 dbSNP
Xg.108578291G=CA2450682313COL4A5c.688G= (p.Gly230=)
c.364G= (p.Gly122=)
c.703G= (p.Gly235=)
Xg.108578291G>TCA413924013COL4A5c.688G>T (p.Gly230Cys)
c.364G>T (p.Gly122Cys)
c.703G>T (p.Gly235Cys)
 gnomAD v4
Xg.108578292G>ACA258315COL4A5c.689G>A (p.Gly230Asp)
c.365G>A (p.Gly122Asp)
c.704G>A (p.Gly235Asp)
 ClinVar dbSNP
Xg.108578292G>CCA413924020COL4A5c.689G>C (p.Gly230Ala)
c.365G>C (p.Gly122Ala)
c.704G>C (p.Gly235Ala)
Xg.108578292G=CA2450682314COL4A5c.689G= (p.Gly230=)
c.365G= (p.Gly122=)
c.704G= (p.Gly235=)
Xg.108578292G>TCA413924015COL4A5c.689G>T (p.Gly230Val)
c.365G>T (p.Gly122Val)
c.704G>T (p.Gly235Val)
 ClinVar dbSNP gnomAD v4
Xg.108578293T>ACA517991769COL4A5c.690T>A (p.Gly230=)
c.366T>A (p.Gly122=)
c.705T>A (p.Gly235=)
Xg.108578293T>CCA517991770COL4A5c.690T>C (p.Gly230=)
c.366T>C (p.Gly122=)
c.705T>C (p.Gly235=)
 dbSNP gnomAD v4
Xg.108578293T>GCA517991771COL4A5c.690T>G (p.Gly230=)
c.366T>G (p.Gly122=)
c.705T>G (p.Gly235=)
Xg.108578293T=CA2450682315COL4A5c.690T= (p.Gly230=)
c.366T= (p.Gly122=)
c.705T= (p.Gly235=)
Xg.108578294G>ACA334180265COL4A5c.691G>A (p.Glu231Lys)
c.367G>A (p.Glu123Lys)
c.706G>A (p.Glu236Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578294G>CCA413924027COL4A5c.691G>C (p.Glu231Gln)
c.367G>C (p.Glu123Gln)
c.706G>C (p.Glu236Gln)
Xg.108578294G=CA2450682316COL4A5c.691G= (p.Glu231=)
c.367G= (p.Glu123=)
c.706G= (p.Glu236=)
Xg.108578294G>TCA413924030COL4A5c.691G>T (p.Glu231Ter)
c.367G>T (p.Glu123Ter)
c.706G>T (p.Glu236Ter)
Xg.108578295A>CCA413924033COL4A5c.692A>C (p.Glu231Ala)
c.368A>C (p.Glu123Ala)
c.707A>C (p.Glu236Ala)
Xg.108578295A>GCA413924034COL4A5c.692A>G (p.Glu231Gly)
c.368A>G (p.Glu123Gly)
c.707A>G (p.Glu236Gly)
Xg.108578295A>TCA413924036COL4A5c.692A>T (p.Glu231Val)
c.368A>T (p.Glu123Val)
c.707A>T (p.Glu236Val)
Xg.108578296G>ACA517991772COL4A5c.693G>A (p.Glu231=)
c.369G>A (p.Glu123=)
c.708G>A (p.Glu236=)
 gnomAD v4
Xg.108578296G>CCA413924039COL4A5c.693G>C (p.Glu231Asp)
c.369G>C (p.Glu123Asp)
c.708G>C (p.Glu236Asp)
Xg.108578296G>TCA413924040COL4A5c.693G>T (p.Glu231Asp)
c.369G>T (p.Glu123Asp)
c.708G>T (p.Glu236Asp)
Xg.108578297C>ACA413924044COL4A5c.694C>A (p.Gln232Lys)
c.370C>A (p.Gln124Lys)
c.709C>A (p.Gln237Lys)
 gnomAD v4
Xg.108578297C>GCA413924045COL4A5c.694C>G (p.Gln232Glu)
c.370C>G (p.Gln124Glu)
c.709C>G (p.Gln237Glu)
Xg.108578297C>TCA413924048COL4A5c.694C>T (p.Gln232Ter)
c.370C>T (p.Gln124Ter)
c.709C>T (p.Gln237Ter)
 ClinVar
Xg.108578298A>CCA413924053COL4A5c.695A>C (p.Gln232Pro)
c.371A>C (p.Gln124Pro)
c.710A>C (p.Gln237Pro)
Xg.108578298A>GCA413924056COL4A5c.695A>G (p.Gln232Arg)
c.371A>G (p.Gln124Arg)
c.710A>G (p.Gln237Arg)
Xg.108578298A>TCA413924051COL4A5c.695A>T (p.Gln232Leu)
c.371A>T (p.Gln124Leu)
c.710A>T (p.Gln237Leu)
Xg.108578299A>CCA413924058COL4A5c.696A>C (p.Gln232His)
c.372A>C (p.Gln124His)
c.711A>C (p.Gln237His)
 gnomAD v4
Xg.108578299A>GCA517991773COL4A5c.696A>G (p.Gln232=)
c.372A>G (p.Gln124=)
c.711A>G (p.Gln237=)
Xg.108578299A>TCA413924059COL4A5c.696A>T (p.Gln232His)
c.372A>T (p.Gln124His)
c.711A>T (p.Gln237His)
Xg.108578300G>ACA413924061COL4A5c.697G>A (p.Gly233Ser)
c.373G>A (p.Gly125Ser)
c.712G>A (p.Gly238Ser)
Xg.108578300G>CCA413924064COL4A5c.697G>C (p.Gly233Arg)
c.373G>C (p.Gly125Arg)
c.712G>C (p.Gly238Arg)
Xg.108578300G>TCA413924068COL4A5c.697G>T (p.Gly233Cys)
c.373G>T (p.Gly125Cys)
c.712G>T (p.Gly238Cys)
Xg.108578301delCA2695235189COL4A5c.698del (p.Gly233ValfsTer21)
c.374del (p.Gly125ValfsTer21)
c.713del (p.Gly238ValfsTer21)
Xg.108578301G>ACA413924074COL4A5c.698G>A (p.Gly233Asp)
c.374G>A (p.Gly125Asp)
c.713G>A (p.Gly238Asp)
Xg.108578301G>CCA413924069COL4A5c.698G>C (p.Gly233Ala)
c.374G>C (p.Gly125Ala)
c.713G>C (p.Gly238Ala)
 ClinVar dbSNP gnomAD v4
Xg.108578301G=CA2450682317COL4A5c.698G= (p.Gly233=)
c.374G= (p.Gly125=)
c.713G= (p.Gly238=)
Xg.108578301G>TCA413924071COL4A5c.698G>T (p.Gly233Val)
c.374G>T (p.Gly125Val)
c.713G>T (p.Gly238Val)
 ClinVar dbSNP
Xg.108578302T>ACA517991774COL4A5c.699T>A (p.Gly233=)
c.375T>A (p.Gly125=)
c.714T>A (p.Gly238=)
Xg.108578302T>CCA517991775COL4A5c.699T>C (p.Gly233=)
c.375T>C (p.Gly125=)
c.714T>C (p.Gly238=)
Xg.108578302T>GCA517991776COL4A5c.699T>G (p.Gly233=)
c.375T>G (p.Gly125=)
c.714T>G (p.Gly238=)
Xg.108578303C>ACA413924077COL4A5c.700C>A (p.Leu234Ile)
c.376C>A (p.Leu126Ile)
c.715C>A (p.Leu239Ile)
Xg.108578303C=CA2450682318COL4A5c.700C= (p.Leu234=)
c.376C= (p.Leu126=)
c.715C= (p.Leu239=)
Xg.108578303C>GCA10488551COL4A5c.700C>G (p.Leu234Val)
c.376C>G (p.Leu126Val)
c.715C>G (p.Leu239Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578303C>TCA413924081COL4A5c.700C>T (p.Leu234Phe)
c.376C>T (p.Leu126Phe)
c.715C>T (p.Leu239Phe)
Xg.108578304T>ACA413924085COL4A5c.701T>A (p.Leu234His)
c.377T>A (p.Leu126His)
c.716T>A (p.Leu239His)
Xg.108578304T>CCA413924088COL4A5c.701T>C (p.Leu234Pro)
c.377T>C (p.Leu126Pro)
c.716T>C (p.Leu239Pro)
Xg.108578304T>GCA413924090COL4A5c.701T>G (p.Leu234Arg)
c.377T>G (p.Leu126Arg)
c.716T>G (p.Leu239Arg)
Xg.108578305T>ACA517991777COL4A5c.702T>A (p.Leu234=)
c.378T>A (p.Leu126=)
c.717T>A (p.Leu239=)
Xg.108578305T>CCA517991778COL4A5c.702T>C (p.Leu234=)
c.378T>C (p.Leu126=)
c.717T>C (p.Leu239=)
Xg.108578305T>GCA517991779COL4A5c.702T>G (p.Leu234=)
c.378T>G (p.Leu126=)
c.717T>G (p.Leu239=)
Xg.108578306C>ACA413924095COL4A5c.703C>A (p.Gln235Lys)
c.379C>A (p.Gln127Lys)
c.718C>A (p.Gln240Lys)
Xg.108578306C>GCA413924098COL4A5c.703C>G (p.Gln235Glu)
c.379C>G (p.Gln127Glu)
c.718C>G (p.Gln240Glu)
Xg.108578306C>TCA413924093COL4A5c.703C>T (p.Gln235Ter)
c.379C>T (p.Gln127Ter)
c.718C>T (p.Gln240Ter)
 ClinVar
Xg.108578307A>CCA413924110COL4A5c.704A>C (p.Gln235Pro)
c.380A>C (p.Gln127Pro)
c.719A>C (p.Gln240Pro)
Xg.108578307A>GCA413924103COL4A5c.704A>G (p.Gln235Arg)
c.380A>G (p.Gln127Arg)
c.719A>G (p.Gln240Arg)
 gnomAD v4
Xg.108578307A>TCA413924113COL4A5c.704A>T (p.Gln235Leu)
c.380A>T (p.Gln127Leu)
c.719A>T (p.Gln240Leu)
Xg.108578308G>ACA517991780COL4A5c.705G>A (p.Gln235=)
c.381G>A (p.Gln127=)
c.720G>A (p.Gln240=)
 gnomAD v4
Xg.108578308G>CCA413924116COL4A5c.705G>C (p.Gln235His)
c.381G>C (p.Gln127His)
c.720G>C (p.Gln240His)
Xg.108578308G>TCA413924118COL4A5c.705G>T (p.Gln235His)
c.381G>T (p.Gln127His)
c.720G>T (p.Gln240His)
Xg.108578309G>ACA413924121COL4A5c.706G>A (p.Gly236Ser)
c.382G>A (p.Gly128Ser)
c.721G>A (p.Gly241Ser)
 ClinVar
Xg.108578309G>CCA413924124COL4A5c.706G>C (p.Gly236Arg)
c.382G>C (p.Gly128Arg)
c.721G>C (p.Gly241Arg)
Xg.108578309G>TCA413924125COL4A5c.706G>T (p.Gly236Cys)
c.382G>T (p.Gly128Cys)
c.721G>T (p.Gly241Cys)
Xg.108578310G>ACA413924126COL4A5c.707G>A (p.Gly236Asp)
c.383G>A (p.Gly128Asp)
c.722G>A (p.Gly241Asp)
 ClinVar dbSNP
Xg.108578310G>CCA413924129COL4A5c.707G>C (p.Gly236Ala)
c.383G>C (p.Gly128Ala)
c.722G>C (p.Gly241Ala)
Xg.108578310G=CA2450682319COL4A5c.707G= (p.Gly236=)
c.383G= (p.Gly128=)
c.722G= (p.Gly241=)
Xg.108578310G>TCA413924131COL4A5c.707G>T (p.Gly236Val)
c.383G>T (p.Gly128Val)
c.722G>T (p.Gly241Val)
Xg.108578311C>ACA517991781COL4A5c.708C>A (p.Gly236=)
c.384C>A (p.Gly128=)
c.723C>A (p.Gly241=)
 gnomAD v4
Xg.108578311C>GCA517991782COL4A5c.708C>G (p.Gly236=)
c.384C>G (p.Gly128=)
c.723C>G (p.Gly241=)
Xg.108578311C>TCA517991783COL4A5c.708C>T (p.Gly236=)
c.384C>T (p.Gly128=)
c.723C>T (p.Gly241=)
Xg.108578313delCA2580100185COL4A5c.710del (p.Pro237HisfsTer17)
c.386del (p.Pro129HisfsTer17)
c.725del (p.Pro242HisfsTer17)
 ClinVar
Xg.108578312C>ACA413924134COL4A5c.709C>A (p.Pro237Thr)
c.385C>A (p.Pro129Thr)
c.724C>A (p.Pro242Thr)
 gnomAD v4
Xg.108578312C>GCA413924136COL4A5c.709C>G (p.Pro237Ala)
c.385C>G (p.Pro129Ala)
c.724C>G (p.Pro242Ala)
Xg.108578312C>TCA413924139COL4A5c.709C>T (p.Pro237Ser)
c.385C>T (p.Pro129Ser)
c.724C>T (p.Pro242Ser)
 ClinVar dbSNP
Xg.108578322_108578330dupCA2694412261COL4A5c.719_727dup (p.Gly242_Gln243insProProGly)
c.395_403dup (p.Gly134_Gln135insProProGly)
c.734_742dup (p.Gly247_Gln248insProProGly)
 gnomAD v4
Xg.108578322_108578330delCA2694412263COL4A5c.719_727del (p.Pro240_Gly242del)
c.395_403del (p.Pro132_Gly134del)
c.734_742del (p.Pro245_Gly247del)
 gnomAD v4
Xg.108578313C>ACA413924142COL4A5c.710C>A (p.Pro237Gln)
c.386C>A (p.Pro129Gln)
c.725C>A (p.Pro242Gln)
Xg.108578313C>GCA413924144COL4A5c.710C>G (p.Pro237Arg)
c.386C>G (p.Pro129Arg)
c.725C>G (p.Pro242Arg)
Xg.108578313C>TCA413924146COL4A5c.710C>T (p.Pro237Leu)
c.386C>T (p.Pro129Leu)
c.725C>T (p.Pro242Leu)
 gnomAD v4
Xg.108578314A=CA2450682320COL4A5c.711A= (p.Pro237=)
c.387A= (p.Pro129=)
c.726A= (p.Pro242=)
Xg.108578314A>CCA517991784COL4A5c.711A>C (p.Pro237=)
c.387A>C (p.Pro129=)
c.726A>C (p.Pro242=)
 gnomAD v4
Xg.108578314A>GCA517991785COL4A5c.711A>G (p.Pro237=)
c.387A>G (p.Pro129=)
c.726A>G (p.Pro242=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578314A>TCA517991786COL4A5c.711A>T (p.Pro237=)
c.387A>T (p.Pro129=)
c.726A>T (p.Pro242=)
Xg.108578314_108578319delCA2580100186COL4A5c.711_716del (p.Pro238_Gly239del)
c.387_392del (p.Pro130_Gly131del)
c.726_731del (p.Pro243_Gly244del)
 ClinVar
Xg.108578315C>ACA413924154COL4A5c.712C>A (p.Pro238Thr)
c.388C>A (p.Pro130Thr)
c.727C>A (p.Pro243Thr)
Xg.108578315C>GCA413924152COL4A5c.712C>G (p.Pro238Ala)
c.388C>G (p.Pro130Ala)
c.727C>G (p.Pro243Ala)
Xg.108578315C>TCA413924149COL4A5c.712C>T (p.Pro238Ser)
c.388C>T (p.Pro130Ser)
c.727C>T (p.Pro243Ser)
Xg.108578316C>ACA413924157COL4A5c.713C>A (p.Pro238His)
c.389C>A (p.Pro130His)
c.728C>A (p.Pro243His)
Xg.108578316C=CA2450682321COL4A5c.713C= (p.Pro238=)
c.389C= (p.Pro130=)
c.728C= (p.Pro243=)
Xg.108578316C>GCA413924165COL4A5c.713C>G (p.Pro238Arg)
c.389C>G (p.Pro130Arg)
c.728C>G (p.Pro243Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578316C>TCA413924167COL4A5c.713C>T (p.Pro238Leu)
c.389C>T (p.Pro130Leu)
c.728C>T (p.Pro243Leu)
Xg.108578316_108578317delCA2579675949COL4A5c.713_714del (p.Pro238ArgfsTer8)
c.389_390del (p.Pro130ArgfsTer8)
c.728_729del (p.Pro243ArgfsTer8)
Xg.108578317T>ACA517991788COL4A5c.714T>A (p.Pro238=)
c.390T>A (p.Pro130=)
c.729T>A (p.Pro243=)
Xg.108578317T>CCA517991789COL4A5c.714T>C (p.Pro238=)
c.390T>C (p.Pro130=)
c.729T>C (p.Pro243=)
Xg.108578317T>GCA517991787COL4A5c.714T>G (p.Pro238=)
c.390T>G (p.Pro130=)
c.729T>G (p.Pro243=)
Xg.108578318G>ACA413924172COL4A5c.715G>A (p.Gly239Arg)
c.391G>A (p.Gly131Arg)
c.730G>A (p.Gly244Arg)
Xg.108578318G>CCA413924174COL4A5c.715G>C (p.Gly239Arg)
c.391G>C (p.Gly131Arg)
c.730G>C (p.Gly244Arg)
Xg.108578318G=CA2450682322COL4A5c.715G= (p.Gly239=)
c.391G= (p.Gly131=)
c.730G= (p.Gly244=)
Xg.108578318G>TCA413924175COL4A5c.715G>T (p.Gly239Trp)
c.391G>T (p.Gly131Trp)
c.730G>T (p.Gly244Trp)
Xg.108578319G>ACA258318COL4A5c.716G>A (p.Gly239Glu)
c.392G>A (p.Gly131Glu)
c.731G>A (p.Gly244Glu)
 ClinVar dbSNP
Xg.108578319G>CCA413924179COL4A5c.716G>C (p.Gly239Ala)
c.392G>C (p.Gly131Ala)
c.731G>C (p.Gly244Ala)
Xg.108578319G=CA2450682323COL4A5c.716G= (p.Gly239=)
c.392G= (p.Gly131=)
c.731G= (p.Gly244=)
Xg.108578319G>TCA413924181COL4A5c.716G>T (p.Gly239Val)
c.392G>T (p.Gly131Val)
c.731G>T (p.Gly244Val)

Number of alleles fetched