Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.227280984A>CCA350849616COL4A3,MFF-DTc.2466A>C (p.Leu822Phe)
n.329+720T>G
c.2361A>C (p.Leu787Phe)
c.1227A>C (p.Leu409Phe)
n.2604A>C
2g.227280984A>GCA431502707COL4A3,MFF-DTc.2466A>G (p.Leu822=)
n.329+720T>C
c.2361A>G (p.Leu787=)
c.1227A>G (p.Leu409=)
n.2604A>G
 gnomAD v4
2g.227280984A>TCA350849617COL4A3,MFF-DTc.2466A>T (p.Leu822Phe)
n.329+720T>A
c.2361A>T (p.Leu787Phe)
c.1227A>T (p.Leu409Phe)
n.2604A>T
 gnomAD v4
2g.227280986delCA2663419101COL4A3,MFF-DTc.2468del (p.Asn823MetfsTer3)
n.329+720del
c.2363del (p.Asn788MetfsTer3)
c.1229del (p.Asn410MetfsTer3)
n.2606del
 gnomAD v4
2g.227280985A>CCA350849620COL4A3,MFF-DTc.2467A>C (p.Asn823His)
n.329+719T>G
c.2362A>C (p.Asn788His)
c.1228A>C (p.Asn410His)
n.2605A>C
2g.227280985A>GCA350849622COL4A3,MFF-DTc.2467A>G (p.Asn823Asp)
n.329+719T>C
c.2362A>G (p.Asn788Asp)
c.1228A>G (p.Asn410Asp)
n.2605A>G
2g.227280985A>TCA350849625COL4A3,MFF-DTc.2467A>T (p.Asn823Tyr)
n.329+719T>A
c.2362A>T (p.Asn788Tyr)
c.1228A>T (p.Asn410Tyr)
n.2605A>T
2g.227280986A=CA1332849908COL4A3,MFF-DTc.2468A= (p.Asn823=)
n.329+718T=
c.2363A= (p.Asn788=)
c.1229A= (p.Asn410=)
n.2606A=
2g.227280986A>CCA350849628COL4A3,MFF-DTc.2468A>C (p.Asn823Thr)
n.329+718T>G
c.2363A>C (p.Asn788Thr)
c.1229A>C (p.Asn410Thr)
n.2606A>C
2g.227280986A>GCA350849631COL4A3,MFF-DTc.2468A>G (p.Asn823Ser)
n.329+718T>C
c.2363A>G (p.Asn788Ser)
c.1229A>G (p.Asn410Ser)
n.2606A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227280986A>TCA350849634COL4A3,MFF-DTc.2468A>T (p.Asn823Ile)
n.329+718T>A
c.2363A>T (p.Asn788Ile)
c.1229A>T (p.Asn410Ile)
n.2606A>T
 gnomAD v4
2g.227280987T>ACA350849636COL4A3,MFF-DTc.2469T>A (p.Asn823Lys)
n.329+717A>T
c.2364T>A (p.Asn788Lys)
c.1230T>A (p.Asn410Lys)
n.2607T>A
2g.227280987T>CCA431502718COL4A3,MFF-DTc.2469T>C (p.Asn823=)
n.329+717A>G
c.2364T>C (p.Asn788=)
c.1230T>C (p.Asn410=)
n.2607T>C
 ClinVar
2g.227280987T>GCA350849648COL4A3,MFF-DTc.2469T>G (p.Asn823Lys)
n.329+717A>C
c.2364T>G (p.Asn788Lys)
c.1230T>G (p.Asn410Lys)
n.2607T>G
2g.227280988G>ACA350849653COL4A3,MFF-DTc.2470G>A (p.Gly824Arg)
n.329+716C>T
c.2365G>A (p.Gly789Arg)
c.1231G>A (p.Gly411Arg)
n.2608G>A
 gnomAD v4

Number of alleles fetched