Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227280970G>ACA66598974COL4A3,MFF-DTc.2452G>A (p.Gly818Arg)
n.329+734C>T
c.2347G>A (p.Gly783Arg)
c.1213G>A (p.Gly405Arg)
n.2590G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227280970G>CCA350849552COL4A3,MFF-DTc.2452G>C (p.Gly818Arg)
n.329+734C>G
c.2347G>C (p.Gly783Arg)
c.1213G>C (p.Gly405Arg)
n.2590G>C
2g.227280970G=CA1332849903COL4A3,MFF-DTc.2452G= (p.Gly818=)
n.329+734C=
c.2347G= (p.Gly783=)
c.1213G= (p.Gly405=)
n.2590G=
2g.227280970G>TCA66598986COL4A3,MFF-DTc.2452G>T (p.Gly818Ter)
n.329+734C>A
c.2347G>T (p.Gly783Ter)
c.1213G>T (p.Gly405Ter)
n.2590G>T
 dbSNP gnomAD v4
2g.227280970_227280971delinsAACA645525270COL4A3,MFF-DTc.2452_2453delinsAA (p.Gly818Lys)
n.329+733_329+734delinsTT
c.2347_2348delinsAA (p.Gly783Lys)
c.1213_1214delinsAA (p.Gly405Lys)
n.2590_2591delinsAA
 COSMIC COSMIC
2g.227280971G>ACA350849556COL4A3,MFF-DTc.2453G>A (p.Gly818Glu)
n.329+733C>T
c.2348G>A (p.Gly783Glu)
c.1214G>A (p.Gly405Glu)
n.2591G>A
2g.227280971G>CCA350849559COL4A3,MFF-DTc.2453G>C (p.Gly818Ala)
n.329+733C>G
c.2348G>C (p.Gly783Ala)
c.1214G>C (p.Gly405Ala)
n.2591G>C
2g.227280971G>TCA350849561COL4A3,MFF-DTc.2453G>T (p.Gly818Val)
n.329+733C>A
c.2348G>T (p.Gly783Val)
c.1214G>T (p.Gly405Val)
n.2591G>T
 gnomAD v4
2g.227280972A=CA1332849904COL4A3,MFF-DTc.2454A= (p.Gly818=)
n.329+732T=
c.2349A= (p.Gly783=)
c.1215A= (p.Gly405=)
n.2592A=
2g.227280972A>CCA431502665COL4A3,MFF-DTc.2454A>C (p.Gly818=)
n.329+732T>G
c.2349A>C (p.Gly783=)
c.1215A>C (p.Gly405=)
n.2592A>C
2g.227280972A>GCA431502666COL4A3,MFF-DTc.2454A>G (p.Gly818=)
n.329+732T>C
c.2349A>G (p.Gly783=)
c.1215A>G (p.Gly405=)
n.2592A>G
2g.227280972A>TCA431502667COL4A3,MFF-DTc.2454A>T (p.Gly818=)
n.329+732T>A
c.2349A>T (p.Gly783=)
c.1215A>T (p.Gly405=)
n.2592A>T
 dbSNP gnomAD v2 gnomAD v4
2g.227280973C>ACA350849563COL4A3,MFF-DTc.2455C>A (p.Leu819Ile)
n.329+731G>T
c.2350C>A (p.Leu784Ile)
c.1216C>A (p.Leu406Ile)
n.2593C>A
 gnomAD v4
2g.227280973C>GCA350849565COL4A3,MFF-DTc.2455C>G (p.Leu819Val)
n.329+731G>C
c.2350C>G (p.Leu784Val)
c.1216C>G (p.Leu406Val)
n.2593C>G
2g.227280973C>TCA350849567COL4A3,MFF-DTc.2455C>T (p.Leu819Phe)
n.329+731G>A
c.2350C>T (p.Leu784Phe)
c.1216C>T (p.Leu406Phe)
n.2593C>T
 gnomAD v4
2g.227280974T>ACA350849572COL4A3,MFF-DTc.2456T>A (p.Leu819His)
n.329+730A>T
c.2351T>A (p.Leu784His)
c.1217T>A (p.Leu406His)
n.2594T>A
2g.227280974T>CCA350849574COL4A3,MFF-DTc.2456T>C (p.Leu819Pro)
n.329+730A>G
c.2351T>C (p.Leu784Pro)
c.1217T>C (p.Leu406Pro)
n.2594T>C
 gnomAD v4
2g.227280974T>GCA350849569COL4A3,MFF-DTc.2456T>G (p.Leu819Arg)
n.329+730A>C
c.2351T>G (p.Leu784Arg)
c.1217T>G (p.Leu406Arg)
n.2594T>G
2g.227280974_227280975insACTGTCTCTTACA2580065887COL4A3,MFF-DTc.2456_2457insACTGTCTCTTA (p.Pro820LeufsTer7)
n.329+729_329+730insTAAGAGACAGT
c.2351_2352insACTGTCTCTTA (p.Pro785LeufsTer7)
c.1217_1218insACTGTCTCTTA (p.Pro407LeufsTer7)
n.2594_2595insACTGTCTCTTA
 ClinVar
2g.227280975T>ACA431502673COL4A3,MFF-DTc.2457T>A (p.Leu819=)
n.329+729A>T
c.2352T>A (p.Leu784=)
c.1218T>A (p.Leu406=)
n.2595T>A
 gnomAD v4
2g.227280975T>CCA431502676COL4A3,MFF-DTc.2457T>C (p.Leu819=)
n.329+729A>G
c.2352T>C (p.Leu784=)
c.1218T>C (p.Leu406=)
n.2595T>C
 gnomAD v4
2g.227280975T>GCA431502678COL4A3,MFF-DTc.2457T>G (p.Leu819=)
n.329+729A>C
c.2352T>G (p.Leu784=)
c.1218T>G (p.Leu406=)
n.2595T>G
2g.227280976C>ACA350849577COL4A3,MFF-DTc.2458C>A (p.Pro820Thr)
n.329+728G>T
c.2353C>A (p.Pro785Thr)
c.1219C>A (p.Pro407Thr)
n.2596C>A
 gnomAD v4
2g.227280976C>GCA350849575COL4A3,MFF-DTc.2458C>G (p.Pro820Ala)
n.329+728G>C
c.2353C>G (p.Pro785Ala)
c.1219C>G (p.Pro407Ala)
n.2596C>G
2g.227280976C>TCA350849576COL4A3,MFF-DTc.2458C>T (p.Pro820Ser)
n.329+728G>A
c.2353C>T (p.Pro785Ser)
c.1219C>T (p.Pro407Ser)
n.2596C>T
 gnomAD v4 COSMIC COSMIC
2g.227280977delCA2663419095COL4A3,MFF-DTc.2459del (p.Pro820GlnfsTer3)
n.329+728del
c.2354del (p.Pro785GlnfsTer3)
c.1220del (p.Pro407GlnfsTer3)
n.2597del
 gnomAD v4
2g.227280977C>ACA350849578COL4A3,MFF-DTc.2459C>A (p.Pro820Gln)
n.329+727G>T
c.2354C>A (p.Pro785Gln)
c.1220C>A (p.Pro407Gln)
n.2597C>A
 gnomAD v4
2g.227280977C=CA1332849905COL4A3,MFF-DTc.2459C= (p.Pro820=)
n.329+727G=
c.2354C= (p.Pro785=)
c.1220C= (p.Pro407=)
n.2597C=
2g.227280977C>GCA350849579COL4A3,MFF-DTc.2459C>G (p.Pro820Arg)
n.329+727G>C
c.2354C>G (p.Pro785Arg)
c.1220C>G (p.Pro407Arg)
n.2597C>G
 gnomAD v4
2g.227280977C>TCA350849581COL4A3,MFF-DTc.2459C>T (p.Pro820Leu)
n.329+727G>A
c.2354C>T (p.Pro785Leu)
c.1220C>T (p.Pro407Leu)
n.2597C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227280978A=CA1332849906COL4A3,MFF-DTc.2460A= (p.Pro820=)
n.329+726T=
c.2355A= (p.Pro785=)
c.1221A= (p.Pro407=)
n.2598A=
2g.227280978A>CCA66598989COL4A3,MFF-DTc.2460A>C (p.Pro820=)
n.329+726T>G
c.2355A>C (p.Pro785=)
c.1221A>C (p.Pro407=)
n.2598A>C
 dbSNP gnomAD v4
2g.227280978A>GCA431502685COL4A3,MFF-DTc.2460A>G (p.Pro820=)
n.329+726T>C
c.2355A>G (p.Pro785=)
c.1221A>G (p.Pro407=)
n.2598A>G
 gnomAD v4
2g.227280978A>TCA431502687COL4A3,MFF-DTc.2460A>T (p.Pro820=)
n.329+726T>A
c.2355A>T (p.Pro785=)
c.1221A>T (p.Pro407=)
n.2598A>T
 gnomAD v4
2g.227280979G>ACA350849589COL4A3,MFF-DTc.2461G>A (p.Gly821Ser)
n.329+725C>T
c.2356G>A (p.Gly786Ser)
c.1222G>A (p.Gly408Ser)
n.2599G>A
 gnomAD v4
2g.227280979G>CCA350849583COL4A3,MFF-DTc.2461G>C (p.Gly821Arg)
n.329+725C>G
c.2356G>C (p.Gly786Arg)
c.1222G>C (p.Gly408Arg)
n.2599G>C
2g.227280979G>TCA350849586COL4A3,MFF-DTc.2461G>T (p.Gly821Cys)
n.329+725C>A
c.2356G>T (p.Gly786Cys)
c.1222G>T (p.Gly408Cys)
n.2599G>T
 gnomAD v4
2g.227280980G>ACA350849593COL4A3,MFF-DTc.2462G>A (p.Gly821Asp)
n.329+724C>T
c.2357G>A (p.Gly786Asp)
c.1223G>A (p.Gly408Asp)
n.2600G>A
 gnomAD v4
2g.227280980G>CCA350849598COL4A3,MFF-DTc.2462G>C (p.Gly821Ala)
n.329+724C>G
c.2357G>C (p.Gly786Ala)
c.1223G>C (p.Gly408Ala)
n.2600G>C
2g.227280980G>TCA350849602COL4A3,MFF-DTc.2462G>T (p.Gly821Val)
n.329+724C>A
c.2357G>T (p.Gly786Val)
c.1223G>T (p.Gly408Val)
n.2600G>T
 gnomAD v4
2g.227280981C>ACA431502694COL4A3,MFF-DTc.2463C>A (p.Gly821=)
n.329+723G>T
c.2358C>A (p.Gly786=)
c.1224C>A (p.Gly408=)
n.2601C>A
 gnomAD v4
2g.227280981C>GCA431502695COL4A3,MFF-DTc.2463C>G (p.Gly821=)
n.329+723G>C
c.2358C>G (p.Gly786=)
c.1224C>G (p.Gly408=)
n.2601C>G
2g.227280981C>TCA431502696COL4A3,MFF-DTc.2463C>T (p.Gly821=)
n.329+723G>A
c.2358C>T (p.Gly786=)
c.1224C>T (p.Gly408=)
n.2601C>T
 gnomAD v4
2g.227280982T>ACA350849604COL4A3,MFF-DTc.2464T>A (p.Leu822Ile)
n.329+722A>T
c.2359T>A (p.Leu787Ile)
c.1225T>A (p.Leu409Ile)
n.2602T>A
2g.227280982T>CCA431502699COL4A3,MFF-DTc.2464T>C (p.Leu822=)
n.329+722A>G
c.2359T>C (p.Leu787=)
c.1225T>C (p.Leu409=)
n.2602T>C
2g.227280982T>GCA350849607COL4A3,MFF-DTc.2464T>G (p.Leu822Val)
n.329+722A>C
c.2359T>G (p.Leu787Val)
c.1225T>G (p.Leu409Val)
n.2602T>G
 dbSNP
2g.227280982T=CA1332849907COL4A3,MFF-DTc.2464T= (p.Leu822=)
n.329+722A=
c.2359T= (p.Leu787=)
c.1225T= (p.Leu409=)
n.2602T=
2g.227280983T>ACA350849614COL4A3,MFF-DTc.2465T>A (p.Leu822Ter)
n.329+721A>T
c.2360T>A (p.Leu787Ter)
c.1226T>A (p.Leu409Ter)
n.2603T>A
2g.227280983T>CCA350849609COL4A3,MFF-DTc.2465T>C (p.Leu822Ser)
n.329+721A>G
c.2360T>C (p.Leu787Ser)
c.1226T>C (p.Leu409Ser)
n.2603T>C
 gnomAD v4
2g.227280983T>GCA350849612COL4A3,MFF-DTc.2465T>G (p.Leu822Ter)
n.329+721A>C
c.2360T>G (p.Leu787Ter)
c.1226T>G (p.Leu409Ter)
n.2603T>G

Number of alleles fetched