Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.227280988G>CCA350849655COL4A3,MFF-DTc.2470G>C (p.Gly824Arg)
n.329+716C>G
c.2365G>C (p.Gly789Arg)
c.1231G>C (p.Gly411Arg)
n.2608G>C
2g.227280988G>TCA350849659COL4A3,MFF-DTc.2470G>T (p.Gly824Ter)
n.329+716C>A
c.2365G>T (p.Gly789Ter)
c.1231G>T (p.Gly411Ter)
n.2608G>T
 gnomAD v4
2g.227280989delCA2663419104COL4A3,MFF-DTc.2471del (p.Gly824AspfsTer2)
n.329+716del
c.2366del (p.Gly789AspfsTer2)
c.1232del (p.Gly411AspfsTer2)
n.2609del
 gnomAD v4
2g.227280989G>ACA350849661COL4A3,MFF-DTc.2471G>A (p.Gly824Glu)
n.329+715C>T
c.2366G>A (p.Gly789Glu)
c.1232G>A (p.Gly411Glu)
n.2609G>A
 ClinVar gnomAD v4
2g.227280989G>CCA350849664COL4A3,MFF-DTc.2471G>C (p.Gly824Ala)
n.329+715C>G
c.2366G>C (p.Gly789Ala)
c.1232G>C (p.Gly411Ala)
n.2609G>C
2g.227280989G>TCA350849662COL4A3,MFF-DTc.2471G>T (p.Gly824Val)
n.329+715C>A
c.2366G>T (p.Gly789Val)
c.1232G>T (p.Gly411Val)
n.2609G>T
 gnomAD v4
2g.227280990A>CCA431502727COL4A3,MFF-DTc.2472A>C (p.Gly824=)
n.329+714T>G
c.2367A>C (p.Gly789=)
c.1233A>C (p.Gly411=)
n.2610A>C
2g.227280990A>GCA431502733COL4A3,MFF-DTc.2472A>G (p.Gly824=)
n.329+714T>C
c.2367A>G (p.Gly789=)
c.1233A>G (p.Gly411=)
n.2610A>G
 gnomAD v4
2g.227280990A>TCA431502728COL4A3,MFF-DTc.2472A>T (p.Gly824=)
n.329+714T>A
c.2367A>T (p.Gly789=)
c.1233A>T (p.Gly411=)
n.2610A>T
2g.227280991T>ACA350849667COL4A3,MFF-DTc.2473T>A (p.Leu825Met)
n.329+713A>T
c.2368T>A (p.Leu790Met)
c.1234T>A (p.Leu412Met)
n.2611T>A
 gnomAD v4
2g.227280991T>CCA431502738COL4A3,MFF-DTc.2473T>C (p.Leu825=)
n.329+713A>G
c.2368T>C (p.Leu790=)
c.1234T>C (p.Leu412=)
n.2611T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280991T>GCA350849671COL4A3,MFF-DTc.2473T>G (p.Leu825Val)
n.329+713A>C
c.2368T>G (p.Leu790Val)
c.1234T>G (p.Leu412Val)
n.2611T>G
2g.227280991T=CA1332849909COL4A3,MFF-DTc.2473T= (p.Leu825=)
n.329+713A=
c.2368T= (p.Leu790=)
c.1234T= (p.Leu412=)
n.2611T=
2g.227280992T>ACA350849673COL4A3,MFF-DTc.2474T>A (p.Leu825Ter)
n.329+712A>T
c.2369T>A (p.Leu790Ter)
c.1235T>A (p.Leu412Ter)
n.2612T>A
2g.227280992T>CCA350849675COL4A3,MFF-DTc.2474T>C (p.Leu825Ser)
n.329+712A>G
c.2369T>C (p.Leu790Ser)
c.1235T>C (p.Leu412Ser)
n.2612T>C
 gnomAD v4
2g.227280992T>GCA66598996COL4A3,MFF-DTc.2474T>G (p.Leu825Trp)
n.329+712A>C
c.2369T>G (p.Leu790Trp)
c.1235T>G (p.Leu412Trp)
n.2612T>G
 dbSNP
2g.227280992T=CA1332849910COL4A3,MFF-DTc.2474T= (p.Leu825=)
n.329+712A=
c.2369T= (p.Leu790=)
c.1235T= (p.Leu412=)
n.2612T=
2g.227280993G>ACA2146935COL4A3,MFF-DTc.2475G>A (p.Leu825=)
n.329+711C>T
c.2370G>A (p.Leu790=)
c.1236G>A (p.Leu412=)
n.2613G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280993G>CCA2146934COL4A3,MFF-DTc.2475G>C (p.Leu825Phe)
n.329+711C>G
c.2370G>C (p.Leu790Phe)
c.1236G>C (p.Leu412Phe)
n.2613G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280993G=CA1332849911COL4A3,MFF-DTc.2475G= (p.Leu825=)
n.329+711C=
c.2370G= (p.Leu790=)
c.1236G= (p.Leu412=)
n.2613G=
2g.227280993G>TCA350849683COL4A3,MFF-DTc.2475G>T (p.Leu825Phe)
n.329+711C>A
c.2370G>T (p.Leu790Phe)
c.1236G>T (p.Leu412Phe)
n.2613G>T
 gnomAD v4
2g.227280994A>CCA350849687COL4A3,MFF-DTc.2476A>C (p.Lys826Gln)
n.329+710T>G
c.2371A>C (p.Lys791Gln)
c.1237A>C (p.Lys413Gln)
n.2614A>C
2g.227280994A>GCA350849688COL4A3,MFF-DTc.2476A>G (p.Lys826Glu)
n.329+710T>C
c.2371A>G (p.Lys791Glu)
c.1237A>G (p.Lys413Glu)
n.2614A>G
 gnomAD v4
2g.227280994A>TCA350849692COL4A3,MFF-DTc.2476A>T (p.Lys826Ter)
n.329+710T>A
c.2371A>T (p.Lys791Ter)
c.1237A>T (p.Lys413Ter)
n.2614A>T
2g.227280995A>CCA350849695COL4A3,MFF-DTc.2477A>C (p.Lys826Thr)
n.329+709T>G
c.2372A>C (p.Lys791Thr)
c.1238A>C (p.Lys413Thr)
n.2615A>C
2g.227280995A>GCA350849697COL4A3,MFF-DTc.2477A>G (p.Lys826Arg)
n.329+709T>C
c.2372A>G (p.Lys791Arg)
c.1238A>G (p.Lys413Arg)
n.2615A>G
2g.227280995A>TCA350849699COL4A3,MFF-DTc.2477A>T (p.Lys826Ile)
n.329+709T>A
c.2372A>T (p.Lys791Ile)
c.1238A>T (p.Lys413Ile)
n.2615A>T
 gnomAD v4
2g.227280996A>CCA350849702COL4A3,MFF-DTc.2478A>C (p.Lys826Asn)
n.329+708T>G
c.2373A>C (p.Lys791Asn)
c.1239A>C (p.Lys413Asn)
n.2616A>C
 gnomAD v4

Number of alleles fetched