Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227277511G>ACA2146849COL4A3,MFF-DTc.2083G>A (p.Gly695Arg)
n.422+1972C>T
c.2020+1034G>A (n.2020+1034G>A)
c.844G>A (p.Gly282Arg)
n.2221G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227277511G>CCA350846953COL4A3,MFF-DTc.2083G>C (p.Gly695Arg)
n.422+1972C>G
c.2020+1034G>C (n.2020+1034G>C)
c.844G>C (p.Gly282Arg)
n.2221G>C
2g.227277511G=CA1332848444COL4A3,MFF-DTc.2083G= (p.Gly695=)
n.422+1972C=
c.2020+1034G= (n.2020+1034G=)
c.844G= (p.Gly282=)
n.2221G=
2g.227277511G>TCA350846956COL4A3,MFF-DTc.2083G>T (p.Gly695Ter)
n.422+1972C>A
c.2020+1034G>T (n.2020+1034G>T)
c.844G>T (p.Gly282Ter)
n.2221G>T
2g.227277512G>ACA66597030COL4A3,MFF-DTc.2084G>A (p.Gly695Glu)
n.422+1971C>T
c.2020+1035G>A (n.2020+1035G>A)
c.845G>A (p.Gly282Glu)
n.2222G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227277512G>CCA350846960COL4A3,MFF-DTc.2084G>C (p.Gly695Ala)
n.422+1971C>G
c.2020+1035G>C (n.2020+1035G>C)
c.845G>C (p.Gly282Ala)
n.2222G>C
2g.227277512G=CA1332848445COL4A3,MFF-DTc.2084G= (p.Gly695=)
n.422+1971C=
c.2020+1035G= (n.2020+1035G=)
c.845G= (p.Gly282=)
n.2222G=
2g.227277512G>TCA350846963COL4A3,MFF-DTc.2084G>T (p.Gly695Val)
n.422+1971C>A
c.2020+1035G>T (n.2020+1035G>T)
c.845G>T (p.Gly282Val)
n.2222G>T
2g.227277513A>CCA431501211COL4A3,MFF-DTc.2085A>C (p.Gly695=)
n.422+1970T>G
c.2020+1036A>C (n.2020+1036A>C)
c.846A>C (p.Gly282=)
n.2223A>C
 ClinVar dbSNP
2g.227277513A>GCA431501212COL4A3,MFF-DTc.2085A>G (p.Gly695=)
n.422+1970T>C
c.2020+1036A>G (n.2020+1036A>G)
c.846A>G (p.Gly282=)
n.2223A>G
2g.227277513A>TCA431501213COL4A3,MFF-DTc.2085A>T (p.Gly695=)
n.422+1970T>A
c.2020+1036A>T (n.2020+1036A>T)
c.846A>T (p.Gly282=)
n.2223A>T
2g.227277514delCA2739279184COL4A3,MFF-DTc.2086del (p.Ile696PhefsTer?)
n.422+1970del
c.2020+1037del (n.2020+1037del)
c.847del (p.Ile283PhefsTer?)
n.2224del
 ClinVar
2g.227277514A>CCA350846966COL4A3,MFF-DTc.2086A>C (p.Ile696Leu)
n.422+1969T>G
c.2020+1037A>C (n.2020+1037A>C)
c.847A>C (p.Ile283Leu)
n.2224A>C
2g.227277514A>GCA350846968COL4A3,MFF-DTc.2086A>G (p.Ile696Val)
n.422+1969T>C
c.2020+1037A>G (n.2020+1037A>G)
c.847A>G (p.Ile283Val)
n.2224A>G
2g.227277514A>TCA350846972COL4A3,MFF-DTc.2086A>T (p.Ile696Phe)
n.422+1969T>A
c.2020+1037A>T (n.2020+1037A>T)
c.847A>T (p.Ile283Phe)
n.2224A>T
2g.227277515T>ACA350846976COL4A3,MFF-DTc.2087T>A (p.Ile696Asn)
n.422+1968A>T
c.2020+1038T>A (n.2020+1038T>A)
c.848T>A (p.Ile283Asn)
n.2225T>A
2g.227277515T>CCA350846979COL4A3,MFF-DTc.2087T>C (p.Ile696Thr)
n.422+1968A>G
c.2020+1038T>C (n.2020+1038T>C)
c.848T>C (p.Ile283Thr)
n.2225T>C
2g.227277515T>GCA350846982COL4A3,MFF-DTc.2087T>G (p.Ile696Ser)
n.422+1968A>C
c.2020+1038T>G (n.2020+1038T>G)
c.848T>G (p.Ile283Ser)
n.2225T>G
2g.227277516T>ACA431501214COL4A3,MFF-DTc.2088T>A (p.Ile696=)
n.422+1967A>T
c.2020+1039T>A (n.2020+1039T>A)
c.849T>A (p.Ile283=)
n.2226T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227277516T>CCA431501215COL4A3,MFF-DTc.2088T>C (p.Ile696=)
n.422+1967A>G
c.2020+1039T>C (n.2020+1039T>C)
c.849T>C (p.Ile283=)
n.2226T>C
2g.227277516T>GCA350846986COL4A3,MFF-DTc.2088T>G (p.Ile696Met)
n.422+1967A>C
c.2020+1039T>G (n.2020+1039T>G)
c.849T>G (p.Ile283Met)
n.2226T>G
2g.227277516T=CA1332848446COL4A3,MFF-DTc.2088T= (p.Ile696=)
n.422+1967A=
c.2020+1039T= (n.2020+1039T=)
c.849T= (p.Ile283=)
n.2226T=
2g.227277517C>ACA350846989COL4A3,MFF-DTc.2089C>A (p.Pro697Thr)
n.422+1966G>T
c.2020+1040C>A (n.2020+1040C>A)
c.850C>A (p.Pro284Thr)
n.2227C>A
2g.227277517C>GCA350846992COL4A3,MFF-DTc.2089C>G (p.Pro697Ala)
n.422+1966G>C
c.2020+1040C>G (n.2020+1040C>G)
c.850C>G (p.Pro284Ala)
n.2227C>G
2g.227277517C>TCA350846997COL4A3,MFF-DTc.2089C>T (p.Pro697Ser)
n.422+1966G>A
c.2020+1040C>T (n.2020+1040C>T)
c.850C>T (p.Pro284Ser)
n.2227C>T
 COSMIC COSMIC
2g.227277518C>ACA350847003COL4A3,MFF-DTc.2090C>A (p.Pro697Gln)
n.422+1965G>T
c.2020+1041C>A (n.2020+1041C>A)
c.851C>A (p.Pro284Gln)
n.2228C>A
2g.227277518C>GCA350847006COL4A3,MFF-DTc.2090C>G (p.Pro697Arg)
n.422+1965G>C
c.2020+1041C>G (n.2020+1041C>G)
c.851C>G (p.Pro284Arg)
n.2228C>G
2g.227277518C>TCA350847009COL4A3,MFF-DTc.2090C>T (p.Pro697Leu)
n.422+1965G>A
c.2020+1041C>T (n.2020+1041C>T)
c.851C>T (p.Pro284Leu)
n.2228C>T
 gnomAD v4
2g.227277519A>CCA431501216COL4A3,MFF-DTc.2091A>C (p.Pro697=)
n.422+1964T>G
c.2020+1042A>C (n.2020+1042A>C)
c.852A>C (p.Pro284=)
n.2229A>C
2g.227277519A>GCA431501217COL4A3,MFF-DTc.2091A>G (p.Pro697=)
n.422+1964T>C
c.2020+1042A>G (n.2020+1042A>G)
c.852A>G (p.Pro284=)
n.2229A>G
 ClinVar
2g.227277519A>TCA431501218COL4A3,MFF-DTc.2091A>T (p.Pro697=)
n.422+1964T>A
c.2020+1042A>T (n.2020+1042A>T)
c.852A>T (p.Pro284=)
n.2229A>T
2g.227277519_227277520delinsAGCA1332848447COL4A3,MFF-DTc.2091_2092delinsAG (p.Pro697=)
n.422+1963_422+1964delinsCT
c.2020+1042_2020+1043delinsAG (n.2020+1042_2020+1043delinsAG)
c.852_853delinsAG (p.Pro284=)
n.2229_2230delinsAG
2g.227277520G>ACA2146850COL4A3,MFF-DTc.2092G>A (p.Gly698Arg)
n.422+1963C>T
c.2020+1043G>A (n.2020+1043G>A)
c.853G>A (p.Gly285Arg)
n.2230G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227277520G>CCA350847013COL4A3,MFF-DTc.2092G>C (p.Gly698Arg)
n.422+1963C>G
c.2020+1043G>C (n.2020+1043G>C)
c.853G>C (p.Gly285Arg)
n.2230G>C
2g.227277520G=CA1332848448COL4A3,MFF-DTc.2092G= (p.Gly698=)
n.422+1963C=
c.2020+1043G= (n.2020+1043G=)
c.853G= (p.Gly285=)
n.2230G=
2g.227277520G>TCA350847016COL4A3,MFF-DTc.2092G>T (p.Gly698Ter)
n.422+1963C>A
c.2020+1043G>T (n.2020+1043G>T)
c.853G>T (p.Gly285Ter)
n.2230G>T
2g.227277521delCA539899885COL4A3,MFF-DTc.2093del (p.Gly698GlufsTer?)
n.422+1963del
c.2020+1044del (n.2020+1044del)
c.854del (p.Gly285GlufsTer?)
n.2231del
 dbSNP gnomAD v2
2g.227277521G>ACA350847019COL4A3,MFF-DTc.2093G>A (p.Gly698Glu)
n.422+1962C>T
c.2020+1044G>A (n.2020+1044G>A)
c.854G>A (p.Gly285Glu)
n.2231G>A
 dbSNP
2g.227277521G>CCA350847022COL4A3,MFF-DTc.2093G>C (p.Gly698Ala)
n.422+1962C>G
c.2020+1044G>C (n.2020+1044G>C)
c.854G>C (p.Gly285Ala)
n.2231G>C
2g.227277521G=CA1332848449COL4A3,MFF-DTc.2093G= (p.Gly698=)
n.422+1962C=
c.2020+1044G= (n.2020+1044G=)
c.854G= (p.Gly285=)
n.2231G=
2g.227277521G>TCA350847025COL4A3,MFF-DTc.2093G>T (p.Gly698Val)
n.422+1962C>A
c.2020+1044G>T (n.2020+1044G>T)
c.854G>T (p.Gly285Val)
n.2231G>T
2g.227277522A=CA1332848450COL4A3,MFF-DTc.2094A= (p.Gly698=)
n.422+1961T=
c.2020+1045A= (n.2020+1045A=)
c.855A= (p.Gly285=)
n.2232A=
2g.227277522A>CCA431501219COL4A3,MFF-DTc.2094A>C (p.Gly698=)
n.422+1961T>G
c.2020+1045A>C (n.2020+1045A>C)
c.855A>C (p.Gly285=)
n.2232A>C
2g.227277522A>GCA431501220COL4A3,MFF-DTc.2094A>G (p.Gly698=)
n.422+1961T>C
c.2020+1045A>G (n.2020+1045A>G)
c.855A>G (p.Gly285=)
n.2232A>G
2g.227277522A>TCA2146851COL4A3,MFF-DTc.2094A>T (p.Gly698=)
n.422+1961T>A
c.2020+1045A>T (n.2020+1045A>T)
c.855A>T (p.Gly285=)
n.2232A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227277523A>CCA350847034COL4A3,MFF-DTc.2095A>C (p.Ile699Leu)
n.422+1960T>G
c.2020+1046A>C (n.2020+1046A>C)
c.856A>C (p.Ile286Leu)
n.2233A>C
2g.227277523A>GCA350847036COL4A3,MFF-DTc.2095A>G (p.Ile699Val)
n.422+1960T>C
c.2020+1046A>G (n.2020+1046A>G)
c.856A>G (p.Ile286Val)
n.2233A>G
2g.227277523A>TCA350847031COL4A3,MFF-DTc.2095A>T (p.Ile699Phe)
n.422+1960T>A
c.2020+1046A>T (n.2020+1046A>T)
c.856A>T (p.Ile286Phe)
n.2233A>T
2g.227277524T>ACA350847042COL4A3,MFF-DTc.2096T>A (p.Ile699Asn)
n.422+1959A>T
c.2020+1047T>A (n.2020+1047T>A)
c.857T>A (p.Ile286Asn)
n.2234T>A
2g.227277524T>CCA2146852COL4A3,MFF-DTc.2096T>C (p.Ile699Thr)
n.422+1959A>G
c.2020+1047T>C (n.2020+1047T>C)
c.857T>C (p.Ile286Thr)
n.2234T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched