Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227054564A=CA1332745668COL4A4c.2860+30T= (n.2860+30T=)
c.2305+30T= (n.2305+30T=)
c.2752+30T= (n.2752+30T=)
c.1186+30T= (n.1186+30T=)
n.3170+30T=
n.3186+30T=
2g.227054564A>GCA765667074COL4A4c.2860+30T>C (n.2860+30T>C)
c.2305+30T>C (n.2305+30T>C)
c.2752+30T>C (n.2752+30T>C)
c.1186+30T>C (n.1186+30T>C)
n.3170+30T>C
n.3186+30T>C
 dbSNP gnomAD v3 gnomAD v4
2g.227054564A>TCA2754509001COL4A4c.2860+30T>A (n.2860+30T>A)
c.2305+30T>A (n.2305+30T>A)
c.2752+30T>A (n.2752+30T>A)
c.1186+30T>A (n.1186+30T>A)
n.3170+30T>A
n.3186+30T>A
2g.227054565T>CCA2663407858COL4A4c.2860+29A>G (n.2860+29A>G)
c.2305+29A>G (n.2305+29A>G)
c.2752+29A>G (n.2752+29A>G)
c.1186+29A>G (n.1186+29A>G)
n.3170+29A>G
n.3186+29A>G
 gnomAD v4
2g.227054565T>GCA66583776COL4A4c.2860+29A>C (n.2860+29A>C)
c.2305+29A>C (n.2305+29A>C)
c.2752+29A>C (n.2752+29A>C)
c.1186+29A>C (n.1186+29A>C)
n.3170+29A>C
n.3186+29A>C
 dbSNP gnomAD v4
2g.227054565T=CA1332745669COL4A4c.2860+29A= (n.2860+29A=)
c.2305+29A= (n.2305+29A=)
c.2752+29A= (n.2752+29A=)
c.1186+29A= (n.1186+29A=)
n.3170+29A=
n.3186+29A=
2g.227054565_227054566insACACA539874942COL4A4c.2860+28_2860+29insTGT (n.2860+28_2860+29insTGT)
c.2305+28_2305+29insTGT (n.2305+28_2305+29insTGT)
c.2752+28_2752+29insTGT (n.2752+28_2752+29insTGT)
c.1186+28_1186+29insTGT (n.1186+28_1186+29insTGT)
n.3170+28_3170+29insTGT
n.3186+28_3186+29insTGT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054568dupCA2663407859COL4A4c.2860+26dup (n.2860+26dup)
c.2305+26dup (n.2305+26dup)
c.2752+26dup (n.2752+26dup)
c.1186+26dup (n.1186+26dup)
n.3170+26dup
n.3186+26dup
 gnomAD v4
2g.227054569T>CCA2663407860COL4A4c.2860+25A>G (n.2860+25A>G)
c.2305+25A>G (n.2305+25A>G)
c.2752+25A>G (n.2752+25A>G)
c.1186+25A>G (n.1186+25A>G)
n.3170+25A>G
n.3186+25A>G
 gnomAD v4
2g.227054570G>TCA2577263500COL4A4c.2860+24C>A (n.2860+24C>A)
c.2305+24C>A (n.2305+24C>A)
c.2752+24C>A (n.2752+24C>A)
c.1186+24C>A (n.1186+24C>A)
n.3170+24C>A
n.3186+24C>A
2g.227054571T>CCA66583777COL4A4c.2860+23A>G (n.2860+23A>G)
c.2305+23A>G (n.2305+23A>G)
c.2752+23A>G (n.2752+23A>G)
c.1186+23A>G (n.1186+23A>G)
n.3170+23A>G
n.3186+23A>G
 dbSNP gnomAD v3 gnomAD v4
2g.227054571T=CA1332745670COL4A4c.2860+23A= (n.2860+23A=)
c.2305+23A= (n.2305+23A=)
c.2752+23A= (n.2752+23A=)
c.1186+23A= (n.1186+23A=)
n.3170+23A=
n.3186+23A=
2g.227054573G>ACA2144700COL4A4c.2860+21C>T (n.2860+21C>T)
c.2305+21C>T (n.2305+21C>T)
c.2752+21C>T (n.2752+21C>T)
c.1186+21C>T (n.1186+21C>T)
n.3170+21C>T
n.3186+21C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054573G=CA1332745671COL4A4c.2860+21C= (n.2860+21C=)
c.2305+21C= (n.2305+21C=)
c.2752+21C= (n.2752+21C=)
c.1186+21C= (n.1186+21C=)
n.3170+21C=
n.3186+21C=
2g.227054575A>CCA2663407861COL4A4c.2860+19T>G (n.2860+19T>G)
c.2305+19T>G (n.2305+19T>G)
c.2752+19T>G (n.2752+19T>G)
c.1186+19T>G (n.1186+19T>G)
n.3170+19T>G
n.3186+19T>G
 gnomAD v4
2g.227054578G>CCA2739278759COL4A4c.2860+16C>G (n.2860+16C>G)
c.2305+16C>G (n.2305+16C>G)
c.2752+16C>G (n.2752+16C>G)
c.1186+16C>G (n.1186+16C>G)
n.3170+16C>G
n.3186+16C>G
 ClinVar
2g.227054580T>CCA2663407862COL4A4c.2860+14A>G (n.2860+14A>G)
c.2305+14A>G (n.2305+14A>G)
c.2752+14A>G (n.2752+14A>G)
c.1186+14A>G (n.1186+14A>G)
n.3170+14A>G
n.3186+14A>G
 gnomAD v4
2g.227054580T>GCA2663407863COL4A4c.2860+14A>C (n.2860+14A>C)
c.2305+14A>C (n.2305+14A>C)
c.2752+14A>C (n.2752+14A>C)
c.1186+14A>C (n.1186+14A>C)
n.3170+14A>C
n.3186+14A>C
 gnomAD v4
2g.227054581G>ACA2144701COL4A4c.2860+13C>T (n.2860+13C>T)
c.2305+13C>T (n.2305+13C>T)
c.2752+13C>T (n.2752+13C>T)
c.1186+13C>T (n.1186+13C>T)
n.3170+13C>T
n.3186+13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054581G=CA1332745672COL4A4c.2860+13C= (n.2860+13C=)
c.2305+13C= (n.2305+13C=)
c.2752+13C= (n.2752+13C=)
c.1186+13C= (n.1186+13C=)
n.3170+13C=
n.3186+13C=
2g.227054581G>TCA647524470COL4A4c.2860+13C>A (n.2860+13C>A)
c.2305+13C>A (n.2305+13C>A)
c.2752+13C>A (n.2752+13C>A)
c.1186+13C>A (n.1186+13C>A)
n.3170+13C>A
n.3186+13C>A
 COSMIC
2g.227054582T>CCA66583791COL4A4c.2860+12A>G (n.2860+12A>G)
c.2305+12A>G (n.2305+12A>G)
c.2752+12A>G (n.2752+12A>G)
c.1186+12A>G (n.1186+12A>G)
n.3170+12A>G
n.3186+12A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227054582T=CA1332745673COL4A4c.2860+12A= (n.2860+12A=)
c.2305+12A= (n.2305+12A=)
c.2752+12A= (n.2752+12A=)
c.1186+12A= (n.1186+12A=)
n.3170+12A=
n.3186+12A=
2g.227054583A=CA1332745674COL4A4c.2860+11T= (n.2860+11T=)
c.2305+11T= (n.2305+11T=)
c.2752+11T= (n.2752+11T=)
c.1186+11T= (n.1186+11T=)
n.3170+11T=
n.3186+11T=
2g.227054583A>GCA431499236COL4A4c.2860+11T>C (n.2860+11T>C)
c.2305+11T>C (n.2305+11T>C)
c.2752+11T>C (n.2752+11T>C)
c.1186+11T>C (n.1186+11T>C)
n.3170+11T>C
n.3186+11T>C
2g.227054583A>TCA1332745675COL4A4c.2860+11T>A (n.2860+11T>A)
c.2305+11T>A (n.2305+11T>A)
c.2752+11T>A (n.2752+11T>A)
c.1186+11T>A (n.1186+11T>A)
n.3170+11T>A
n.3186+11T>A
 ClinVar dbSNP gnomAD v4
2g.227054586T>GCA2663407864COL4A4c.2860+8A>C (n.2860+8A>C)
c.2305+8A>C (n.2305+8A>C)
c.2752+8A>C (n.2752+8A>C)
c.1186+8A>C (n.1186+8A>C)
n.3170+8A>C
n.3186+8A>C
 ClinVar gnomAD v4
2g.227054587T>CCA2663407865COL4A4c.2860+7A>G (n.2860+7A>G)
c.2305+7A>G (n.2305+7A>G)
c.2752+7A>G (n.2752+7A>G)
c.1186+7A>G (n.1186+7A>G)
n.3170+7A>G
n.3186+7A>G
 gnomAD v4
2g.227054588A=CA1332745676COL4A4c.2860+6T= (n.2860+6T=)
c.2305+6T= (n.2305+6T=)
c.2752+6T= (n.2752+6T=)
c.1186+6T= (n.1186+6T=)
n.3170+6T=
n.3186+6T=
2g.227054588A>GCA539874943COL4A4c.2860+6T>C (n.2860+6T>C)
c.2305+6T>C (n.2305+6T>C)
c.2752+6T>C (n.2752+6T>C)
c.1186+6T>C (n.1186+6T>C)
n.3170+6T>C
n.3186+6T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054591T>CCA2577263501COL4A4c.2860+3A>G (n.2860+3A>G)
c.2305+3A>G (n.2305+3A>G)
c.2752+3A>G (n.2752+3A>G)
c.1186+3A>G (n.1186+3A>G)
n.3170+3A>G
n.3186+3A>G
2g.227054591T>GCA539874944COL4A4c.2860+3A>C (n.2860+3A>C)
c.2305+3A>C (n.2305+3A>C)
c.2752+3A>C (n.2752+3A>C)
c.1186+3A>C (n.1186+3A>C)
n.3170+3A>C
n.3186+3A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054591T=CA1332745677COL4A4c.2860+3A= (n.2860+3A=)
c.2305+3A= (n.2305+3A=)
c.2752+3A= (n.2752+3A=)
c.1186+3A= (n.1186+3A=)
n.3170+3A=
n.3186+3A=
2g.227054592A>CCA350839913COL4A4c.2860+2T>G (n.2860+2T>G)
c.2305+2T>G (n.2305+2T>G)
c.2752+2T>G (n.2752+2T>G)
c.1186+2T>G (n.1186+2T>G)
n.3170+2T>G
n.3186+2T>G
 ClinVar dbSNP
2g.227054592A>GCA350839914COL4A4c.2860+2T>C (n.2860+2T>C)
c.2305+2T>C (n.2305+2T>C)
c.2752+2T>C (n.2752+2T>C)
c.1186+2T>C (n.1186+2T>C)
n.3170+2T>C
n.3186+2T>C
2g.227054592A>TCA350839915COL4A4c.2860+2T>A (n.2860+2T>A)
c.2305+2T>A (n.2305+2T>A)
c.2752+2T>A (n.2752+2T>A)
c.1186+2T>A (n.1186+2T>A)
n.3170+2T>A
n.3186+2T>A
2g.227054593C>ACA350839917COL4A4c.2860+1G>T (n.2860+1G>T)
c.2305+1G>T (n.2305+1G>T)
c.2752+1G>T (n.2752+1G>T)
c.1186+1G>T (n.1186+1G>T)
n.3170+1G>T
n.3186+1G>T
2g.227054593C=CA1332745678COL4A4c.2860+1G= (n.2860+1G=)
c.2305+1G= (n.2305+1G=)
c.2752+1G= (n.2752+1G=)
c.1186+1G= (n.1186+1G=)
n.3170+1G=
n.3186+1G=
2g.227054593C>GCA350839918COL4A4c.2860+1G>C (n.2860+1G>C)
c.2305+1G>C (n.2305+1G>C)
c.2752+1G>C (n.2752+1G>C)
c.1186+1G>C (n.1186+1G>C)
n.3170+1G>C
n.3186+1G>C
2g.227054593C>TCA350839919COL4A4c.2860+1G>A (n.2860+1G>A)
c.2305+1G>A (n.2305+1G>A)
c.2752+1G>A (n.2752+1G>A)
c.1186+1G>A (n.1186+1G>A)
n.3170+1G>A
n.3186+1G>A
 dbSNP
2g.227054594C>ACA350839921COL4A4c.2860G>T (p.Gly954Ter)
c.2305G>T (p.Gly769Ter)
c.2752G>T (p.Gly918Ter)
c.1186G>T (p.Gly396Ter)
n.3170G>T
n.3186G>T
 COSMIC
2g.227054594C>GCA350839922COL4A4c.2860G>C (p.Gly954Arg)
c.2305G>C (p.Gly769Arg)
c.2752G>C (p.Gly918Arg)
c.1186G>C (p.Gly396Arg)
n.3170G>C
n.3186G>C
2g.227054594C>TCA350839923COL4A4c.2860G>A (p.Gly954Arg)
c.2305G>A (p.Gly769Arg)
c.2752G>A (p.Gly918Arg)
c.1186G>A (p.Gly396Arg)
n.3170G>A
n.3186G>A
 ClinVar dbSNP
2g.227054595T>ACA350839924COL4A4c.2859A>T (p.Lys953Asn)
c.2304A>T (p.Lys768Asn)
c.2751A>T (p.Lys917Asn)
c.1185A>T (p.Lys395Asn)
n.3169A>T
n.3185A>T
2g.227054595T>CCA66583802COL4A4c.2859A>G (p.Lys953=)
c.2304A>G (p.Lys768=)
c.2751A>G (p.Lys917=)
c.1185A>G (p.Lys395=)
n.3169A>G
n.3185A>G
 dbSNP
2g.227054595T>GCA350839926COL4A4c.2859A>C (p.Lys953Asn)
c.2304A>C (p.Lys768Asn)
c.2751A>C (p.Lys917Asn)
c.1185A>C (p.Lys395Asn)
n.3169A>C
n.3185A>C
2g.227054595T=CA1332745679COL4A4c.2859A= (p.Lys953=)
c.2304A= (p.Lys768=)
c.2751A= (p.Lys917=)
c.1185A= (p.Lys395=)
n.3169A=
n.3185A=
2g.227054596T>ACA350839928COL4A4c.2858A>T (p.Lys953Ile)
c.2303A>T (p.Lys768Ile)
c.2750A>T (p.Lys917Ile)
c.1184A>T (p.Lys395Ile)
n.3168A>T
n.3184A>T
2g.227054596T>CCA350839931COL4A4c.2858A>G (p.Lys953Arg)
c.2303A>G (p.Lys768Arg)
c.2750A>G (p.Lys917Arg)
c.1184A>G (p.Lys395Arg)
n.3168A>G
n.3184A>G
2g.227054596T>GCA350839929COL4A4c.2858A>C (p.Lys953Thr)
c.2303A>C (p.Lys768Thr)
c.2750A>C (p.Lys917Thr)
c.1184A>C (p.Lys395Thr)
n.3168A>C
n.3184A>C
2g.227054597T>ACA350839932COL4A4c.2857A>T (p.Lys953Ter)
c.2302A>T (p.Lys768Ter)
c.2749A>T (p.Lys917Ter)
c.1183A>T (p.Lys395Ter)
n.3167A>T
n.3183A>T
2g.227054597T>CCA350839933COL4A4c.2857A>G (p.Lys953Glu)
c.2302A>G (p.Lys768Glu)
c.2749A>G (p.Lys917Glu)
c.1183A>G (p.Lys395Glu)
n.3167A>G
n.3183A>G
2g.227054597T>GCA350839935COL4A4c.2857A>C (p.Lys953Gln)
c.2302A>C (p.Lys768Gln)
c.2749A>C (p.Lys917Gln)
c.1183A>C (p.Lys395Gln)
n.3167A>C
n.3183A>C
2g.227054598G>ACA431499237COL4A4c.2856C>T (p.Ala952=)
c.2301C>T (p.Ala767=)
c.2748C>T (p.Ala916=)
c.1182C>T (p.Ala394=)
n.3166C>T
n.3182C>T
2g.227054598G>CCA431499239COL4A4c.2856C>G (p.Ala952=)
c.2301C>G (p.Ala767=)
c.2748C>G (p.Ala916=)
c.1182C>G (p.Ala394=)
n.3166C>G
n.3182C>G
 ClinVar
2g.227054598G>TCA431499238COL4A4c.2856C>A (p.Ala952=)
c.2301C>A (p.Ala767=)
c.2748C>A (p.Ala916=)
c.1182C>A (p.Ala394=)
n.3166C>A
n.3182C>A
2g.227054599G>ACA2144702COL4A4c.2855C>T (p.Ala952Val)
c.2300C>T (p.Ala767Val)
c.2747C>T (p.Ala916Val)
c.1181C>T (p.Ala394Val)
n.3165C>T
n.3181C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054599G>CCA350839938COL4A4c.2855C>G (p.Ala952Gly)
c.2300C>G (p.Ala767Gly)
c.2747C>G (p.Ala916Gly)
c.1181C>G (p.Ala394Gly)
n.3165C>G
n.3181C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227054599G=CA1332745680COL4A4c.2855C= (p.Ala952=)
c.2300C= (p.Ala767=)
c.2747C= (p.Ala916=)
c.1181C= (p.Ala394=)
n.3165C=
n.3181C=
2g.227054599G>TCA350839939COL4A4c.2855C>A (p.Ala952Asp)
c.2300C>A (p.Ala767Asp)
c.2747C>A (p.Ala916Asp)
c.1181C>A (p.Ala394Asp)
n.3165C>A
n.3181C>A
2g.227054600C>ACA66583805COL4A4c.2854G>T (p.Ala952Ser)
c.2299G>T (p.Ala767Ser)
c.2746G>T (p.Ala916Ser)
c.1180G>T (p.Ala394Ser)
n.3164G>T
n.3180G>T
 dbSNP
2g.227054600C=CA1332745681COL4A4c.2854G= (p.Ala952=)
c.2299G= (p.Ala767=)
c.2746G= (p.Ala916=)
c.1180G= (p.Ala394=)
n.3164G=
n.3180G=
2g.227054600C>GCA350839941COL4A4c.2854G>C (p.Ala952Pro)
c.2299G>C (p.Ala767Pro)
c.2746G>C (p.Ala916Pro)
c.1180G>C (p.Ala394Pro)
n.3164G>C
n.3180G>C
2g.227054600C>TCA350839943COL4A4c.2854G>A (p.Ala952Thr)
c.2299G>A (p.Ala767Thr)
c.2746G>A (p.Ala916Thr)
c.1180G>A (p.Ala394Thr)
n.3164G>A
n.3180G>A
 dbSNP
2g.227054601C>ACA2144704COL4A4c.2853G>T (p.Gly951=)
c.2298G>T (p.Gly766=)
c.2745G>T (p.Gly915=)
c.1179G>T (p.Gly393=)
n.3163G>T
n.3179G>T
 dbSNP ExAC gnomAD v2
2g.227054601C=CA1332745682COL4A4c.2853G= (p.Gly951=)
c.2298G= (p.Gly766=)
c.2745G= (p.Gly915=)
c.1179G= (p.Gly393=)
n.3163G=
n.3179G=
2g.227054601C>GCA2144703COL4A4c.2853G>C (p.Gly951=)
c.2298G>C (p.Gly766=)
c.2745G>C (p.Gly915=)
c.1179G>C (p.Gly393=)
n.3163G>C
n.3179G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054601C>TCA431499240COL4A4c.2853G>A (p.Gly951=)
c.2298G>A (p.Gly766=)
c.2745G>A (p.Gly915=)
c.1179G>A (p.Gly393=)
n.3163G>A
n.3179G>A
2g.227054602C>ACA350839949COL4A4c.2852G>T (p.Gly951Val)
c.2297G>T (p.Gly766Val)
c.2744G>T (p.Gly915Val)
c.1178G>T (p.Gly393Val)
n.3162G>T
n.3178G>T
2g.227054602C>GCA350839948COL4A4c.2852G>C (p.Gly951Ala)
c.2297G>C (p.Gly766Ala)
c.2744G>C (p.Gly915Ala)
c.1178G>C (p.Gly393Ala)
n.3162G>C
n.3178G>C
2g.227054602C>TCA350839946COL4A4c.2852G>A (p.Gly951Glu)
c.2297G>A (p.Gly766Glu)
c.2744G>A (p.Gly915Glu)
c.1178G>A (p.Gly393Glu)
n.3162G>A
n.3178G>A
2g.227054603C>ACA350839950COL4A4c.2851G>T (p.Gly951Trp)
c.2296G>T (p.Gly766Trp)
c.2743G>T (p.Gly915Trp)
c.1177G>T (p.Gly393Trp)
n.3161G>T
n.3177G>T
 dbSNP gnomAD v2 gnomAD v4
2g.227054603C=CA1332745683COL4A4c.2851G= (p.Gly951=)
c.2296G= (p.Gly766=)
c.2743G= (p.Gly915=)
c.1177G= (p.Gly393=)
n.3161G=
n.3177G=
2g.227054603C>GCA350839952COL4A4c.2851G>C (p.Gly951Arg)
c.2296G>C (p.Gly766Arg)
c.2743G>C (p.Gly915Arg)
c.1177G>C (p.Gly393Arg)
n.3161G>C
n.3177G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227054603C>TCA350839954COL4A4c.2851G>A (p.Gly951Arg)
c.2296G>A (p.Gly766Arg)
c.2743G>A (p.Gly915Arg)
c.1177G>A (p.Gly393Arg)
n.3161G>A
n.3177G>A
 ClinVar dbSNP
2g.227054604T>ACA350839956COL4A4c.2850A>T (p.Arg950Ser)
c.2295A>T (p.Arg765Ser)
c.2742A>T (p.Arg914Ser)
c.1176A>T (p.Arg392Ser)
n.3160A>T
n.3176A>T
2g.227054604T>CCA431499241COL4A4c.2850A>G (p.Arg950=)
c.2295A>G (p.Arg765=)
c.2742A>G (p.Arg914=)
c.1176A>G (p.Arg392=)
n.3160A>G
n.3176A>G
2g.227054604T>GCA350839957COL4A4c.2850A>C (p.Arg950Ser)
c.2295A>C (p.Arg765Ser)
c.2742A>C (p.Arg914Ser)
c.1176A>C (p.Arg392Ser)
n.3160A>C
n.3176A>C
 dbSNP
2g.227054604T=CA1332745684COL4A4c.2850A= (p.Arg950=)
c.2295A= (p.Arg765=)
c.2742A= (p.Arg914=)
c.1176A= (p.Arg392=)
n.3160A=
n.3176A=
2g.227054605C>ACA350839959COL4A4c.2849G>T (p.Arg950Ile)
c.2294G>T (p.Arg765Ile)
c.2741G>T (p.Arg914Ile)
c.1175G>T (p.Arg392Ile)
n.3159G>T
n.3175G>T
 gnomAD v4
2g.227054605C=CA1332745685COL4A4c.2849G= (p.Arg950=)
c.2294G= (p.Arg765=)
c.2741G= (p.Arg914=)
c.1175G= (p.Arg392=)
n.3159G=
n.3175G=
2g.227054605C>GCA350839961COL4A4c.2849G>C (p.Arg950Thr)
c.2294G>C (p.Arg765Thr)
c.2741G>C (p.Arg914Thr)
c.1175G>C (p.Arg392Thr)
n.3159G>C
n.3175G>C
 dbSNP gnomAD v4
2g.227054605C>TCA350839962COL4A4c.2849G>A (p.Arg950Lys)
c.2294G>A (p.Arg765Lys)
c.2741G>A (p.Arg914Lys)
c.1175G>A (p.Arg392Lys)
n.3159G>A
n.3175G>A
2g.227054606T>ACA350839964COL4A4c.2848A>T (p.Arg950Ter)
c.2293A>T (p.Arg765Ter)
c.2740A>T (p.Arg914Ter)
c.1174A>T (p.Arg392Ter)
n.3158A>T
n.3174A>T
2g.227054606T>CCA350839966COL4A4c.2848A>G (p.Arg950Gly)
c.2293A>G (p.Arg765Gly)
c.2740A>G (p.Arg914Gly)
c.1174A>G (p.Arg392Gly)
n.3158A>G
n.3174A>G
2g.227054606T>GCA431499242COL4A4c.2848A>C (p.Arg950=)
c.2293A>C (p.Arg765=)
c.2740A>C (p.Arg914=)
c.1174A>C (p.Arg392=)
n.3158A>C
n.3174A>C
 ClinVar
2g.227054607C>ACA431499245COL4A4c.2847G>T (p.Leu949=)
c.2292G>T (p.Leu764=)
c.2739G>T (p.Leu913=)
c.1173G>T (p.Leu391=)
n.3157G>T
n.3173G>T
 dbSNP gnomAD v4 COSMIC
2g.227054607C=CA1332745686COL4A4c.2847G= (p.Leu949=)
c.2292G= (p.Leu764=)
c.2739G= (p.Leu913=)
c.1173G= (p.Leu391=)
n.3157G=
n.3173G=
2g.227054607C>GCA431499243COL4A4c.2847G>C (p.Leu949=)
c.2292G>C (p.Leu764=)
c.2739G>C (p.Leu913=)
c.1173G>C (p.Leu391=)
n.3157G>C
n.3173G>C
2g.227054607C>TCA431499244COL4A4c.2847G>A (p.Leu949=)
c.2292G>A (p.Leu764=)
c.2739G>A (p.Leu913=)
c.1173G>A (p.Leu391=)
n.3157G>A
n.3173G>A
2g.227054608A=CA1332745687COL4A4c.2846T= (p.Leu949=)
c.2291T= (p.Leu764=)
c.2738T= (p.Leu913=)
c.1172T= (p.Leu391=)
n.3156T=
n.3172T=
2g.227054608A>CCA66583822COL4A4c.2846T>G (p.Leu949Arg)
c.2291T>G (p.Leu764Arg)
c.2738T>G (p.Leu913Arg)
c.1172T>G (p.Leu391Arg)
n.3156T>G
n.3172T>G
 dbSNP gnomAD v2 gnomAD v4
2g.227054608A>GCA2144705COL4A4c.2846T>C (p.Leu949Pro)
c.2291T>C (p.Leu764Pro)
c.2738T>C (p.Leu913Pro)
c.1172T>C (p.Leu391Pro)
n.3156T>C
n.3172T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054608A>TCA350839968COL4A4c.2846T>A (p.Leu949Gln)
c.2291T>A (p.Leu764Gln)
c.2738T>A (p.Leu913Gln)
c.1172T>A (p.Leu391Gln)
n.3156T>A
n.3172T>A
 dbSNP gnomAD v2 gnomAD v4
2g.227054609G>ACA431499246COL4A4c.2845C>T (p.Leu949=)
c.2290C>T (p.Leu764=)
c.2737C>T (p.Leu913=)
c.1171C>T (p.Leu391=)
n.3155C>T
n.3171C>T
 ClinVar dbSNP
2g.227054609G>CCA350839970COL4A4c.2845C>G (p.Leu949Val)
c.2290C>G (p.Leu764Val)
c.2737C>G (p.Leu913Val)
c.1171C>G (p.Leu391Val)
n.3155C>G
n.3171C>G
2g.227054609G>TCA350839972COL4A4c.2845C>A (p.Leu949Met)
c.2290C>A (p.Leu764Met)
c.2737C>A (p.Leu913Met)
c.1171C>A (p.Leu391Met)
n.3155C>A
n.3171C>A
2g.227054610T>ACA431499247COL4A4c.2844A>T (p.Gly948=)
c.2289A>T (p.Gly763=)
c.2736A>T (p.Gly912=)
c.1170A>T (p.Gly390=)
n.3154A>T
n.3170A>T
2g.227054610T>CCA431499248COL4A4c.2844A>G (p.Gly948=)
c.2289A>G (p.Gly763=)
c.2736A>G (p.Gly912=)
c.1170A>G (p.Gly390=)
n.3154A>G
n.3170A>G
 gnomAD v4
2g.227054610T>GCA431499249COL4A4c.2844A>C (p.Gly948=)
c.2289A>C (p.Gly763=)
c.2736A>C (p.Gly912=)
c.1170A>C (p.Gly390=)
n.3154A>C
n.3170A>C
2g.227054611C>ACA2144706COL4A4c.2843G>T (p.Gly948Val)
c.2288G>T (p.Gly763Val)
c.2735G>T (p.Gly912Val)
c.1169G>T (p.Gly390Val)
n.3153G>T
n.3169G>T
 dbSNP ExAC gnomAD v2
2g.227054611C=CA1332745688COL4A4c.2843G= (p.Gly948=)
c.2288G= (p.Gly763=)
c.2735G= (p.Gly912=)
c.1169G= (p.Gly390=)
n.3153G=
n.3169G=
2g.227054611C>GCA350839976COL4A4c.2843G>C (p.Gly948Ala)
c.2288G>C (p.Gly763Ala)
c.2735G>C (p.Gly912Ala)
c.1169G>C (p.Gly390Ala)
n.3153G>C
n.3169G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054611C>TCA350839974COL4A4c.2843G>A (p.Gly948Glu)
c.2288G>A (p.Gly763Glu)
c.2735G>A (p.Gly912Glu)
c.1169G>A (p.Gly390Glu)
n.3153G>A
n.3169G>A
 dbSNP
2g.227054614delCA2586971579COL4A4c.2843del (p.Gly948AspfsTer2)
c.2288del (p.Gly763AspfsTer2)
c.2735del (p.Gly912AspfsTer2)
c.1169del (p.Gly390AspfsTer2)
n.3153del
n.3169del
2g.227054612C>ACA350839977COL4A4c.2842G>T (p.Gly948Ter)
c.2287G>T (p.Gly763Ter)
c.2734G>T (p.Gly912Ter)
c.1168G>T (p.Gly390Ter)
n.3152G>T
n.3168G>T
 ClinVar dbSNP
2g.227054612C>GCA350839980COL4A4c.2842G>C (p.Gly948Arg)
c.2287G>C (p.Gly763Arg)
c.2734G>C (p.Gly912Arg)
c.1168G>C (p.Gly390Arg)
n.3152G>C
n.3168G>C
2g.227054612C>TCA350839978COL4A4c.2842G>A (p.Gly948Arg)
c.2287G>A (p.Gly763Arg)
c.2734G>A (p.Gly912Arg)
c.1168G>A (p.Gly390Arg)
n.3152G>A
n.3168G>A
 ClinVar
2g.227054613C>ACA431499252COL4A4c.2841G>T (p.Arg947=)
c.2286G>T (p.Arg762=)
c.2733G>T (p.Arg911=)
c.1167G>T (p.Arg389=)
n.3151G>T
n.3167G>T
2g.227054613C>GCA431499250COL4A4c.2841G>C (p.Arg947=)
c.2286G>C (p.Arg762=)
c.2733G>C (p.Arg911=)
c.1167G>C (p.Arg389=)
n.3151G>C
n.3167G>C
2g.227054613C>TCA431499251COL4A4c.2841G>A (p.Arg947=)
c.2286G>A (p.Arg762=)
c.2733G>A (p.Arg911=)
c.1167G>A (p.Arg389=)
n.3151G>A
n.3167G>A
 ClinVar
2g.227054615_227054621delCA2577263502COL4A4c.2835_2841del (p.Arg947Ter)
c.2280_2286del (p.Arg762Ter)
c.2727_2733del (p.Arg911Ter)
c.1161_1167del (p.Arg389Ter)
n.3145_3151del
n.3161_3167del
2g.227054614C>ACA350839982COL4A4c.2840G>T (p.Arg947Leu)
c.2285G>T (p.Arg762Leu)
c.2732G>T (p.Arg911Leu)
c.1166G>T (p.Arg389Leu)
n.3150G>T
n.3166G>T
2g.227054614C=CA1332745689COL4A4c.2840G= (p.Arg947=)
c.2285G= (p.Arg762=)
c.2732G= (p.Arg911=)
c.1166G= (p.Arg389=)
n.3150G=
n.3166G=
2g.227054614C>GCA350839984COL4A4c.2840G>C (p.Arg947Pro)
c.2285G>C (p.Arg762Pro)
c.2732G>C (p.Arg911Pro)
c.1166G>C (p.Arg389Pro)
n.3150G>C
n.3166G>C
 gnomAD v4
2g.227054614C>TCA2144707COL4A4c.2840G>A (p.Arg947Gln)
c.2285G>A (p.Arg762Gln)
c.2732G>A (p.Arg911Gln)
c.1166G>A (p.Arg389Gln)
n.3150G>A
n.3166G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054615G>ACA2144708COL4A4c.2839C>T (p.Arg947Trp)
c.2284C>T (p.Arg762Trp)
c.2731C>T (p.Arg911Trp)
c.1165C>T (p.Arg389Trp)
n.3149C>T
n.3165C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054615G>CCA350839986COL4A4c.2839C>G (p.Arg947Gly)
c.2284C>G (p.Arg762Gly)
c.2731C>G (p.Arg911Gly)
c.1165C>G (p.Arg389Gly)
n.3149C>G
n.3165C>G
 gnomAD v4
2g.227054615G=CA1332745690COL4A4c.2839C= (p.Arg947=)
c.2284C= (p.Arg762=)
c.2731C= (p.Arg911=)
c.1165C= (p.Arg389=)
n.3149C=
n.3165C=
2g.227054615G>TCA431499253COL4A4c.2839C>A (p.Arg947=)
c.2284C>A (p.Arg762=)
c.2731C>A (p.Arg911=)
c.1165C>A (p.Arg389=)
n.3149C>A
n.3165C>A
2g.227054616G>ACA431499254COL4A4c.2838C>T (p.Asp946=)
c.2283C>T (p.Asp761=)
c.2730C>T (p.Asp910=)
c.1164C>T (p.Asp388=)
n.3148C>T
n.3164C>T
2g.227054616G>CCA350839988COL4A4c.2838C>G (p.Asp946Glu)
c.2283C>G (p.Asp761Glu)
c.2730C>G (p.Asp910Glu)
c.1164C>G (p.Asp388Glu)
n.3148C>G
n.3164C>G
2g.227054616G>TCA350839990COL4A4c.2838C>A (p.Asp946Glu)
c.2283C>A (p.Asp761Glu)
c.2730C>A (p.Asp910Glu)
c.1164C>A (p.Asp388Glu)
n.3148C>A
n.3164C>A
2g.227054617T>ACA350839991COL4A4c.2837A>T (p.Asp946Val)
c.2282A>T (p.Asp761Val)
c.2729A>T (p.Asp910Val)
c.1163A>T (p.Asp388Val)
n.3147A>T
n.3163A>T
2g.227054617T>CCA350839992COL4A4c.2837A>G (p.Asp946Gly)
c.2282A>G (p.Asp761Gly)
c.2729A>G (p.Asp910Gly)
c.1163A>G (p.Asp388Gly)
n.3147A>G
n.3163A>G
2g.227054617T>GCA350839994COL4A4c.2837A>C (p.Asp946Ala)
c.2282A>C (p.Asp761Ala)
c.2729A>C (p.Asp910Ala)
c.1163A>C (p.Asp388Ala)
n.3147A>C
n.3163A>C
2g.227054618C>ACA350839996COL4A4c.2836G>T (p.Asp946Tyr)
c.2281G>T (p.Asp761Tyr)
c.2728G>T (p.Asp910Tyr)
c.1162G>T (p.Asp388Tyr)
n.3146G>T
n.3162G>T
2g.227054618C>GCA350839997COL4A4c.2836G>C (p.Asp946His)
c.2281G>C (p.Asp761His)
c.2728G>C (p.Asp910His)
c.1162G>C (p.Asp388His)
n.3146G>C
n.3162G>C
2g.227054618C>TCA350839999COL4A4c.2836G>A (p.Asp946Asn)
c.2281G>A (p.Asp761Asn)
c.2728G>A (p.Asp910Asn)
c.1162G>A (p.Asp388Asn)
n.3146G>A
n.3162G>A
 COSMIC
2g.227054619T>ACA431499255COL4A4c.2835A>T (p.Gly945=)
c.2280A>T (p.Gly760=)
c.2727A>T (p.Gly909=)
c.1161A>T (p.Gly387=)
n.3145A>T
n.3161A>T
2g.227054619T>CCA431499256COL4A4c.2835A>G (p.Gly945=)
c.2280A>G (p.Gly760=)
c.2727A>G (p.Gly909=)
c.1161A>G (p.Gly387=)
n.3145A>G
n.3161A>G
2g.227054619T>GCA431499257COL4A4c.2835A>C (p.Gly945=)
c.2280A>C (p.Gly760=)
c.2727A>C (p.Gly909=)
c.1161A>C (p.Gly387=)
n.3145A>C
n.3161A>C
2g.227054620C>ACA350840000COL4A4c.2834G>T (p.Gly945Val)
c.2279G>T (p.Gly760Val)
c.2726G>T (p.Gly909Val)
c.1160G>T (p.Gly387Val)
n.3144G>T
n.3160G>T
2g.227054620C>GCA350840002COL4A4c.2834G>C (p.Gly945Ala)
c.2279G>C (p.Gly760Ala)
c.2726G>C (p.Gly909Ala)
c.1160G>C (p.Gly387Ala)
n.3144G>C
n.3160G>C
2g.227054620C>TCA350840004COL4A4c.2834G>A (p.Gly945Glu)
c.2279G>A (p.Gly760Glu)
c.2726G>A (p.Gly909Glu)
c.1160G>A (p.Gly387Glu)
n.3144G>A
n.3160G>A
2g.227054621C>ACA350840005COL4A4c.2833G>T (p.Gly945Ter)
c.2278G>T (p.Gly760Ter)
c.2725G>T (p.Gly909Ter)
c.1159G>T (p.Gly387Ter)
n.3143G>T
n.3159G>T
 ClinVar dbSNP
2g.227054621C=CA1332745691COL4A4c.2833G= (p.Gly945=)
c.2278G= (p.Gly760=)
c.2725G= (p.Gly909=)
c.1159G= (p.Gly387=)
n.3143G=
n.3159G=
2g.227054621C>GCA350840008COL4A4c.2833G>C (p.Gly945Arg)
c.2278G>C (p.Gly760Arg)
c.2725G>C (p.Gly909Arg)
c.1159G>C (p.Gly387Arg)
n.3143G>C
n.3159G>C
2g.227054621C>TCA350840007COL4A4c.2833G>A (p.Gly945Arg)
c.2278G>A (p.Gly760Arg)
c.2725G>A (p.Gly909Arg)
c.1159G>A (p.Gly387Arg)
n.3143G>A
n.3159G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227054622A>CCA431499259COL4A4c.2832T>G (p.Pro944=)
c.2277T>G (p.Pro759=)
c.2724T>G (p.Pro908=)
c.1158T>G (p.Pro386=)
n.3142T>G
n.3158T>G
2g.227054622A>GCA431499260COL4A4c.2832T>C (p.Pro944=)
c.2277T>C (p.Pro759=)
c.2724T>C (p.Pro908=)
c.1158T>C (p.Pro386=)
n.3142T>C
n.3158T>C
 dbSNP
2g.227054622A>TCA431499258COL4A4c.2832T>A (p.Pro944=)
c.2277T>A (p.Pro759=)
c.2724T>A (p.Pro908=)
c.1158T>A (p.Pro386=)
n.3142T>A
n.3158T>A
2g.227054623G>ACA350840010COL4A4c.2831C>T (p.Pro944Leu)
c.2276C>T (p.Pro759Leu)
c.2723C>T (p.Pro908Leu)
c.1157C>T (p.Pro386Leu)
n.3141C>T
n.3157C>T
 dbSNP gnomAD v4
2g.227054623G>CCA350840012COL4A4c.2831C>G (p.Pro944Arg)
c.2276C>G (p.Pro759Arg)
c.2723C>G (p.Pro908Arg)
c.1157C>G (p.Pro386Arg)
n.3141C>G
n.3157C>G
2g.227054623G>TCA350840013COL4A4c.2831C>A (p.Pro944His)
c.2276C>A (p.Pro759His)
c.2723C>A (p.Pro908His)
c.1157C>A (p.Pro386His)
n.3141C>A
n.3157C>A
2g.227054624G>ACA350840015COL4A4c.2830C>T (p.Pro944Ser)
c.2275C>T (p.Pro759Ser)
c.2722C>T (p.Pro908Ser)
c.1156C>T (p.Pro386Ser)
n.3140C>T
n.3156C>T
 COSMIC
2g.227054624G>CCA350840017COL4A4c.2830C>G (p.Pro944Ala)
c.2275C>G (p.Pro759Ala)
c.2722C>G (p.Pro908Ala)
c.1156C>G (p.Pro386Ala)
n.3140C>G
n.3156C>G
2g.227054624G>TCA350840018COL4A4c.2830C>A (p.Pro944Thr)
c.2275C>A (p.Pro759Thr)
c.2722C>A (p.Pro908Thr)
c.1156C>A (p.Pro386Thr)
n.3140C>A
n.3156C>A
 COSMIC
2g.227054625A>CCA431499261COL4A4c.2829T>G (p.Leu943=)
c.2274T>G (p.Leu758=)
c.2721T>G (p.Leu907=)
c.1155T>G (p.Leu385=)
n.3139T>G
n.3155T>G
2g.227054625A>GCA431499262COL4A4c.2829T>C (p.Leu943=)
c.2274T>C (p.Leu758=)
c.2721T>C (p.Leu907=)
c.1155T>C (p.Leu385=)
n.3139T>C
n.3155T>C
2g.227054625A>TCA431499263COL4A4c.2829T>A (p.Leu943=)
c.2274T>A (p.Leu758=)
c.2721T>A (p.Leu907=)
c.1155T>A (p.Leu385=)
n.3139T>A
n.3155T>A
2g.227054626A>CCA350840019COL4A4c.2828T>G (p.Leu943Arg)
c.2273T>G (p.Leu758Arg)
c.2720T>G (p.Leu907Arg)
c.1154T>G (p.Leu385Arg)
n.3138T>G
n.3154T>G
2g.227054626A>GCA350840021COL4A4c.2828T>C (p.Leu943Pro)
c.2273T>C (p.Leu758Pro)
c.2720T>C (p.Leu907Pro)
c.1154T>C (p.Leu385Pro)
n.3138T>C
n.3154T>C
2g.227054626A>TCA350840022COL4A4c.2828T>A (p.Leu943His)
c.2273T>A (p.Leu758His)
c.2720T>A (p.Leu907His)
c.1154T>A (p.Leu385His)
n.3138T>A
n.3154T>A
2g.227054627G>ACA350840027COL4A4c.2827C>T (p.Leu943Phe)
c.2272C>T (p.Leu758Phe)
c.2719C>T (p.Leu907Phe)
c.1153C>T (p.Leu385Phe)
n.3137C>T
n.3153C>T
2g.227054627G>CCA350840026COL4A4c.2827C>G (p.Leu943Val)
c.2272C>G (p.Leu758Val)
c.2719C>G (p.Leu907Val)
c.1153C>G (p.Leu385Val)
n.3137C>G
n.3153C>G
2g.227054627G=CA1332745692COL4A4c.2827C= (p.Leu943=)
c.2272C= (p.Leu758=)
c.2719C= (p.Leu907=)
c.1153C= (p.Leu385=)
n.3137C=
n.3153C=
2g.227054627G>TCA350840024COL4A4c.2827C>A (p.Leu943Ile)
c.2272C>A (p.Leu758Ile)
c.2719C>A (p.Leu907Ile)
c.1153C>A (p.Leu385Ile)
n.3137C>A
n.3153C>A
 dbSNP gnomAD v4
2g.227054628G>ACA431499264COL4A4c.2826C>T (p.Gly942=)
c.2271C>T (p.Gly757=)
c.2718C>T (p.Gly906=)
c.1152C>T (p.Gly384=)
n.3136C>T
n.3152C>T
2g.227054628G>CCA431499265COL4A4c.2826C>G (p.Gly942=)
c.2271C>G (p.Gly757=)
c.2718C>G (p.Gly906=)
c.1152C>G (p.Gly384=)
n.3136C>G
n.3152C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227054628G=CA1332745693COL4A4c.2826C= (p.Gly942=)
c.2271C= (p.Gly757=)
c.2718C= (p.Gly906=)
c.1152C= (p.Gly384=)
n.3136C=
n.3152C=
2g.227054628G>TCA431499266COL4A4c.2826C>A (p.Gly942=)
c.2271C>A (p.Gly757=)
c.2718C>A (p.Gly906=)
c.1152C>A (p.Gly384=)
n.3136C>A
n.3152C>A
 ClinVar
2g.227054628_227054629insTGCA658821237COL4A4c.2826_2827insAC (p.Leu943ThrfsTer8)
c.2271_2272insAC (p.Leu758ThrfsTer8)
c.2718_2719insAC (p.Leu907ThrfsTer8)
c.1152_1153insAC (p.Leu385ThrfsTer8)
n.3136_3137insAC
n.3152_3153insAC
 ClinVar dbSNP
2g.227054629C>ACA350840029COL4A4c.2825G>T (p.Gly942Val)
c.2270G>T (p.Gly757Val)
c.2717G>T (p.Gly906Val)
c.1151G>T (p.Gly384Val)
n.3135G>T
n.3151G>T
2g.227054629C>GCA350840031COL4A4c.2825G>C (p.Gly942Ala)
c.2270G>C (p.Gly757Ala)
c.2717G>C (p.Gly906Ala)
c.1151G>C (p.Gly384Ala)
n.3135G>C
n.3151G>C
2g.227054629C>TCA350840032COL4A4c.2825G>A (p.Gly942Asp)
c.2270G>A (p.Gly757Asp)
c.2717G>A (p.Gly906Asp)
c.1151G>A (p.Gly384Asp)
n.3135G>A
n.3151G>A
2g.227054630C>ACA350840034COL4A4c.2824G>T (p.Gly942Cys)
c.2269G>T (p.Gly757Cys)
c.2716G>T (p.Gly906Cys)
c.1150G>T (p.Gly384Cys)
n.3134G>T
n.3150G>T
2g.227054630C>GCA350840035COL4A4c.2824G>C (p.Gly942Arg)
c.2269G>C (p.Gly757Arg)
c.2716G>C (p.Gly906Arg)
c.1150G>C (p.Gly384Arg)
n.3134G>C
n.3150G>C
2g.227054630C>TCA350840036COL4A4c.2824G>A (p.Gly942Ser)
c.2269G>A (p.Gly757Ser)
c.2716G>A (p.Gly906Ser)
c.1150G>A (p.Gly384Ser)
n.3134G>A
n.3150G>A
 gnomAD v4
2g.227054631A>CCA431499267COL4A4c.2823T>G (p.Ser941=)
c.2268T>G (p.Ser756=)
c.2715T>G (p.Ser905=)
c.1149T>G (p.Ser383=)
n.3133T>G
n.3149T>G
2g.227054631A>GCA431499268COL4A4c.2823T>C (p.Ser941=)
c.2268T>C (p.Ser756=)
c.2715T>C (p.Ser905=)
c.1149T>C (p.Ser383=)
n.3133T>C
n.3149T>C
2g.227054631A>TCA431499269COL4A4c.2823T>A (p.Ser941=)
c.2268T>A (p.Ser756=)
c.2715T>A (p.Ser905=)
c.1149T>A (p.Ser383=)
n.3133T>A
n.3149T>A
2g.227054632G>ACA350840038COL4A4c.2822C>T (p.Ser941Phe)
c.2267C>T (p.Ser756Phe)
c.2714C>T (p.Ser905Phe)
c.1148C>T (p.Ser383Phe)
n.3132C>T
n.3148C>T
2g.227054632G>CCA350840039COL4A4c.2822C>G (p.Ser941Cys)
c.2267C>G (p.Ser756Cys)
c.2714C>G (p.Ser905Cys)
c.1148C>G (p.Ser383Cys)
n.3132C>G
n.3148C>G
2g.227054632G>TCA350840040COL4A4c.2822C>A (p.Ser941Tyr)
c.2267C>A (p.Ser756Tyr)
c.2714C>A (p.Ser905Tyr)
c.1148C>A (p.Ser383Tyr)
n.3132C>A
n.3148C>A
 gnomAD v4
2g.227054633A>CCA350840042COL4A4c.2821T>G (p.Ser941Ala)
c.2266T>G (p.Ser756Ala)
c.2713T>G (p.Ser905Ala)
c.1147T>G (p.Ser383Ala)
n.3131T>G
n.3147T>G
2g.227054633A>GCA350840044COL4A4c.2821T>C (p.Ser941Pro)
c.2266T>C (p.Ser756Pro)
c.2713T>C (p.Ser905Pro)
c.1147T>C (p.Ser383Pro)
n.3131T>C
n.3147T>C
2g.227054633A>TCA350840046COL4A4c.2821T>A (p.Ser941Thr)
c.2266T>A (p.Ser756Thr)
c.2713T>A (p.Ser905Thr)
c.1147T>A (p.Ser383Thr)
n.3131T>A
n.3147T>A
2g.227054634C>ACA350840050COL4A4c.2820G>T (p.Met940Ile)
c.2265G>T (p.Met755Ile)
c.2712G>T (p.Met904Ile)
c.1146G>T (p.Met382Ile)
n.3130G>T
n.3146G>T
2g.227054634C=CA1332745694COL4A4c.2820G= (p.Met940=)
c.2265G= (p.Met755=)
c.2712G= (p.Met904=)
c.1146G= (p.Met382=)
n.3130G=
n.3146G=
2g.227054634C>GCA350840047COL4A4c.2820G>C (p.Met940Ile)
c.2265G>C (p.Met755Ile)
c.2712G>C (p.Met904Ile)
c.1146G>C (p.Met382Ile)
n.3130G>C
n.3146G>C
2g.227054634C>TCA350840048COL4A4c.2820G>A (p.Met940Ile)
c.2265G>A (p.Met755Ile)
c.2712G>A (p.Met904Ile)
c.1146G>A (p.Met382Ile)
n.3130G>A
n.3146G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227054635A=CA1332745695COL4A4c.2819T= (p.Met940=)
c.2264T= (p.Met755=)
c.2711T= (p.Met904=)
c.1145T= (p.Met382=)
n.3129T=
n.3145T=
2g.227054635A>CCA350840052COL4A4c.2819T>G (p.Met940Arg)
c.2264T>G (p.Met755Arg)
c.2711T>G (p.Met904Arg)
c.1145T>G (p.Met382Arg)
n.3129T>G
n.3145T>G
2g.227054635A>GCA2144709COL4A4c.2819T>C (p.Met940Thr)
c.2264T>C (p.Met755Thr)
c.2711T>C (p.Met904Thr)
c.1145T>C (p.Met382Thr)
n.3129T>C
n.3145T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054635A>TCA350840054COL4A4c.2819T>A (p.Met940Lys)
c.2264T>A (p.Met755Lys)
c.2711T>A (p.Met904Lys)
c.1145T>A (p.Met382Lys)
n.3129T>A
n.3145T>A
2g.227054635_227054637delinsTGTCTCTTATACA2580065865COL4A4c.2817_2819delinsTATAAGAGACA (p.Met940IlefsTer13)
c.2262_2264delinsTATAAGAGACA (p.Met755IlefsTer13)
c.2709_2711delinsTATAAGAGACA (p.Met904IlefsTer13)
c.1143_1145delinsTATAAGAGACA (p.Met382IlefsTer13)
n.3127_3129delinsTATAAGAGACA
n.3143_3145delinsTATAAGAGACA
 ClinVar
2g.227054636T>ACA350840055COL4A4c.2818A>T (p.Met940Leu)
c.2263A>T (p.Met755Leu)
c.2710A>T (p.Met904Leu)
c.1144A>T (p.Met382Leu)
n.3128A>T
n.3144A>T
2g.227054636T>CCA350840056COL4A4c.2818A>G (p.Met940Val)
c.2263A>G (p.Met755Val)
c.2710A>G (p.Met904Val)
c.1144A>G (p.Met382Val)
n.3128A>G
n.3144A>G
2g.227054636T>GCA350840058COL4A4c.2818A>C (p.Met940Leu)
c.2263A>C (p.Met755Leu)
c.2710A>C (p.Met904Leu)
c.1144A>C (p.Met382Leu)
n.3128A>C
n.3144A>C
2g.227054637G>ACA431499270COL4A4c.2817C>T (p.Gly939=)
c.2262C>T (p.Gly754=)
c.2709C>T (p.Gly903=)
c.1143C>T (p.Gly381=)
n.3127C>T
n.3143C>T
 gnomAD v4
2g.227054637G>CCA431499271COL4A4c.2817C>G (p.Gly939=)
c.2262C>G (p.Gly754=)
c.2709C>G (p.Gly903=)
c.1143C>G (p.Gly381=)
n.3127C>G
n.3143C>G
2g.227054637G>TCA431499272COL4A4c.2817C>A (p.Gly939=)
c.2262C>A (p.Gly754=)
c.2709C>A (p.Gly903=)
c.1143C>A (p.Gly381=)
n.3127C>A
n.3143C>A
2g.227054638C>ACA350840060COL4A4c.2816G>T (p.Gly939Val)
c.2261G>T (p.Gly754Val)
c.2708G>T (p.Gly903Val)
c.1142G>T (p.Gly381Val)
n.3126G>T
n.3142G>T
 dbSNP gnomAD v4
2g.227054638C=CA1332745696COL4A4c.2816G= (p.Gly939=)
c.2261G= (p.Gly754=)
c.2708G= (p.Gly903=)
c.1142G= (p.Gly381=)
n.3126G=
n.3142G=
2g.227054638C>GCA350840062COL4A4c.2816G>C (p.Gly939Ala)
c.2261G>C (p.Gly754Ala)
c.2708G>C (p.Gly903Ala)
c.1142G>C (p.Gly381Ala)
n.3126G>C
n.3142G>C
2g.227054638C>TCA350840063COL4A4c.2816G>A (p.Gly939Asp)
c.2261G>A (p.Gly754Asp)
c.2708G>A (p.Gly903Asp)
c.1142G>A (p.Gly381Asp)
n.3126G>A
n.3142G>A
2g.227054639C>ACA350840064COL4A4c.2815G>T (p.Gly939Cys)
c.2260G>T (p.Gly754Cys)
c.2707G>T (p.Gly903Cys)
c.1141G>T (p.Gly381Cys)
n.3125G>T
n.3141G>T
2g.227054639C>GCA350840066COL4A4c.2815G>C (p.Gly939Arg)
c.2260G>C (p.Gly754Arg)
c.2707G>C (p.Gly903Arg)
c.1141G>C (p.Gly381Arg)
n.3125G>C
n.3141G>C
2g.227054639C>TCA350840067COL4A4c.2815G>A (p.Gly939Ser)
c.2260G>A (p.Gly754Ser)
c.2707G>A (p.Gly903Ser)
c.1141G>A (p.Gly381Ser)
n.3125G>A
n.3141G>A
2g.227054640C>ACA350840069COL4A4c.2814G>T (p.Lys938Asn)
c.2259G>T (p.Lys753Asn)
c.2706G>T (p.Lys902Asn)
c.1140G>T (p.Lys380Asn)
n.3124G>T
n.3140G>T
2g.227054640C>GCA350840070COL4A4c.2814G>C (p.Lys938Asn)
c.2259G>C (p.Lys753Asn)
c.2706G>C (p.Lys902Asn)
c.1140G>C (p.Lys380Asn)
n.3124G>C
n.3140G>C
2g.227054640C>TCA431499273COL4A4c.2814G>A (p.Lys938=)
c.2259G>A (p.Lys753=)
c.2706G>A (p.Lys902=)
c.1140G>A (p.Lys380=)
n.3124G>A
n.3140G>A
2g.227054641T>ACA350840072COL4A4c.2813A>T (p.Lys938Met)
c.2258A>T (p.Lys753Met)
c.2705A>T (p.Lys902Met)
c.1139A>T (p.Lys380Met)
n.3123A>T
n.3139A>T
2g.227054641T>CCA350840073COL4A4c.2813A>G (p.Lys938Arg)
c.2258A>G (p.Lys753Arg)
c.2705A>G (p.Lys902Arg)
c.1139A>G (p.Lys380Arg)
n.3123A>G
n.3139A>G
 gnomAD v4
2g.227054641T>GCA350840074COL4A4c.2813A>C (p.Lys938Thr)
c.2258A>C (p.Lys753Thr)
c.2705A>C (p.Lys902Thr)
c.1139A>C (p.Lys380Thr)
n.3123A>C
n.3139A>C
2g.227054642T>ACA350840076COL4A4c.2812A>T (p.Lys938Ter)
c.2257A>T (p.Lys753Ter)
c.2704A>T (p.Lys902Ter)
c.1138A>T (p.Lys380Ter)
n.3122A>T
n.3138A>T
2g.227054642T>CCA350840078COL4A4c.2812A>G (p.Lys938Glu)
c.2257A>G (p.Lys753Glu)
c.2704A>G (p.Lys902Glu)
c.1138A>G (p.Lys380Glu)
n.3122A>G
n.3138A>G
2g.227054642T>GCA350840080COL4A4c.2812A>C (p.Lys938Gln)
c.2257A>C (p.Lys753Gln)
c.2704A>C (p.Lys902Gln)
c.1138A>C (p.Lys380Gln)
n.3122A>C
n.3138A>C
2g.227054643C>ACA350840082COL4A4c.2811G>T (p.Glu937Asp)
c.2256G>T (p.Glu752Asp)
c.2703G>T (p.Glu901Asp)
c.1137G>T (p.Glu379Asp)
n.3121G>T
n.3137G>T
 dbSNP
2g.227054643C=CA1332745697COL4A4c.2811G= (p.Glu937=)
c.2256G= (p.Glu752=)
c.2703G= (p.Glu901=)
c.1137G= (p.Glu379=)
n.3121G=
n.3137G=
2g.227054643C>GCA350840081COL4A4c.2811G>C (p.Glu937Asp)
c.2256G>C (p.Glu752Asp)
c.2703G>C (p.Glu901Asp)
c.1137G>C (p.Glu379Asp)
n.3121G>C
n.3137G>C
 gnomAD v4
2g.227054643C>TCA2144710COL4A4c.2811G>A (p.Glu937=)
c.2256G>A (p.Glu752=)
c.2703G>A (p.Glu901=)
c.1137G>A (p.Glu379=)
n.3121G>A
n.3137G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054644T>ACA350840084COL4A4c.2810A>T (p.Glu937Val)
c.2255A>T (p.Glu752Val)
c.2702A>T (p.Glu901Val)
c.1136A>T (p.Glu379Val)
n.3120A>T
n.3136A>T
2g.227054644T>CCA350840085COL4A4c.2810A>G (p.Glu937Gly)
c.2255A>G (p.Glu752Gly)
c.2702A>G (p.Glu901Gly)
c.1136A>G (p.Glu379Gly)
n.3120A>G
n.3136A>G
2g.227054644T>GCA350840088COL4A4c.2810A>C (p.Glu937Ala)
c.2255A>C (p.Glu752Ala)
c.2702A>C (p.Glu901Ala)
c.1136A>C (p.Glu379Ala)
n.3120A>C
n.3136A>C
2g.227054645C>ACA350840089COL4A4c.2809G>T (p.Glu937Ter)
c.2254G>T (p.Glu752Ter)
c.2701G>T (p.Glu901Ter)
c.1135G>T (p.Glu379Ter)
n.3119G>T
n.3135G>T
2g.227054645C>GCA350840090COL4A4c.2809G>C (p.Glu937Gln)
c.2254G>C (p.Glu752Gln)
c.2701G>C (p.Glu901Gln)
c.1135G>C (p.Glu379Gln)
n.3119G>C
n.3135G>C
2g.227054645C>TCA350840091COL4A4c.2809G>A (p.Glu937Lys)
c.2254G>A (p.Glu752Lys)
c.2701G>A (p.Glu901Lys)
c.1135G>A (p.Glu379Lys)
n.3119G>A
n.3135G>A
 COSMIC
2g.227054646T>ACA431499274COL4A4c.2808A>T (p.Gly936=)
c.2253A>T (p.Gly751=)
c.2700A>T (p.Gly900=)
c.1134A>T (p.Gly378=)
n.3118A>T
n.3134A>T
2g.227054646T>CCA431499275COL4A4c.2808A>G (p.Gly936=)
c.2253A>G (p.Gly751=)
c.2700A>G (p.Gly900=)
c.1134A>G (p.Gly378=)
n.3118A>G
n.3134A>G
2g.227054646T>GCA431499276COL4A4c.2808A>C (p.Gly936=)
c.2253A>C (p.Gly751=)
c.2700A>C (p.Gly900=)
c.1134A>C (p.Gly378=)
n.3118A>C
n.3134A>C
2g.227054647C>ACA350840092COL4A4c.2807G>T (p.Gly936Val)
c.2252G>T (p.Gly751Val)
c.2699G>T (p.Gly900Val)
c.1133G>T (p.Gly378Val)
n.3117G>T
n.3133G>T
 gnomAD v4
2g.227054647C>GCA350840094COL4A4c.2807G>C (p.Gly936Ala)
c.2252G>C (p.Gly751Ala)
c.2699G>C (p.Gly900Ala)
c.1133G>C (p.Gly378Ala)
n.3117G>C
n.3133G>C
 gnomAD v4
2g.227054647C>TCA350840093COL4A4c.2807G>A (p.Gly936Glu)
c.2252G>A (p.Gly751Glu)
c.2699G>A (p.Gly900Glu)
c.1133G>A (p.Gly378Glu)
n.3117G>A
n.3133G>A
2g.227054648C>ACA350840096COL4A4c.2806G>T (p.Gly936Ter)
c.2251G>T (p.Gly751Ter)
c.2698G>T (p.Gly900Ter)
c.1132G>T (p.Gly378Ter)
n.3116G>T
n.3132G>T
2g.227054648C>GCA350840098COL4A4c.2806G>C (p.Gly936Arg)
c.2251G>C (p.Gly751Arg)
c.2698G>C (p.Gly900Arg)
c.1132G>C (p.Gly378Arg)
n.3116G>C
n.3132G>C
2g.227054648C>TCA350840099COL4A4c.2806G>A (p.Gly936Arg)
c.2251G>A (p.Gly751Arg)
c.2698G>A (p.Gly900Arg)
c.1132G>A (p.Gly378Arg)
n.3116G>A
n.3132G>A
2g.227054649A>CCA431499279COL4A4c.2805T>G (p.Pro935=)
c.2250T>G (p.Pro750=)
c.2697T>G (p.Pro899=)
c.1131T>G (p.Pro377=)
n.3115T>G
n.3131T>G
2g.227054649A>GCA431499277COL4A4c.2805T>C (p.Pro935=)
c.2250T>C (p.Pro750=)
c.2697T>C (p.Pro899=)
c.1131T>C (p.Pro377=)
n.3115T>C
n.3131T>C
 gnomAD v4
2g.227054649A>TCA431499278COL4A4c.2805T>A (p.Pro935=)
c.2250T>A (p.Pro750=)
c.2697T>A (p.Pro899=)
c.1131T>A (p.Pro377=)
n.3115T>A
n.3131T>A
2g.227054650G>ACA2144711COL4A4c.2804C>T (p.Pro935Leu)
c.2249C>T (p.Pro750Leu)
c.2696C>T (p.Pro899Leu)
c.1130C>T (p.Pro377Leu)
n.3114C>T
n.3130C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054650G>CCA350840101COL4A4c.2804C>G (p.Pro935Arg)
c.2249C>G (p.Pro750Arg)
c.2696C>G (p.Pro899Arg)
c.1130C>G (p.Pro377Arg)
n.3114C>G
n.3130C>G
 dbSNP
2g.227054650G=CA1332745698COL4A4c.2804C= (p.Pro935=)
c.2249C= (p.Pro750=)
c.2696C= (p.Pro899=)
c.1130C= (p.Pro377=)
n.3114C=
n.3130C=
2g.227054650G>TCA350840103COL4A4c.2804C>A (p.Pro935His)
c.2249C>A (p.Pro750His)
c.2696C>A (p.Pro899His)
c.1130C>A (p.Pro377His)
n.3114C>A
n.3130C>A
 dbSNP gnomAD v2 gnomAD v4
2g.227054651G>ACA350840105COL4A4c.2803C>T (p.Pro935Ser)
c.2248C>T (p.Pro750Ser)
c.2695C>T (p.Pro899Ser)
c.1129C>T (p.Pro377Ser)
n.3113C>T
n.3129C>T
2g.227054651G>CCA350840107COL4A4c.2803C>G (p.Pro935Ala)
c.2248C>G (p.Pro750Ala)
c.2695C>G (p.Pro899Ala)
c.1129C>G (p.Pro377Ala)
n.3113C>G
n.3129C>G
2g.227054651G>TCA350840109COL4A4c.2803C>A (p.Pro935Thr)
c.2248C>A (p.Pro750Thr)
c.2695C>A (p.Pro899Thr)
c.1129C>A (p.Pro377Thr)
n.3113C>A
n.3129C>A
 ClinVar gnomAD v4
2g.227054652T>ACA350840110COL4A4c.2802A>T (p.Glu934Asp)
c.2247A>T (p.Glu749Asp)
c.2694A>T (p.Glu898Asp)
c.1128A>T (p.Glu376Asp)
n.3112A>T
n.3128A>T
2g.227054652T>CCA431499280COL4A4c.2802A>G (p.Glu934=)
c.2247A>G (p.Glu749=)
c.2694A>G (p.Glu898=)
c.1128A>G (p.Glu376=)
n.3112A>G
n.3128A>G
 ClinVar
2g.227054652T>GCA350840112COL4A4c.2802A>C (p.Glu934Asp)
c.2247A>C (p.Glu749Asp)
c.2694A>C (p.Glu898Asp)
c.1128A>C (p.Glu376Asp)
n.3112A>C
n.3128A>C
2g.227054653T>ACA350840113COL4A4c.2801A>T (p.Glu934Val)
c.2246A>T (p.Glu749Val)
c.2693A>T (p.Glu898Val)
c.1127A>T (p.Glu376Val)
n.3111A>T
n.3127A>T
2g.227054653T>CCA350840116COL4A4c.2801A>G (p.Glu934Gly)
c.2246A>G (p.Glu749Gly)
c.2693A>G (p.Glu898Gly)
c.1127A>G (p.Glu376Gly)
n.3111A>G
n.3127A>G
2g.227054653T>GCA350840115COL4A4c.2801A>C (p.Glu934Ala)
c.2246A>C (p.Glu749Ala)
c.2693A>C (p.Glu898Ala)
c.1127A>C (p.Glu376Ala)
n.3111A>C
n.3127A>C
2g.227054654C>ACA350840118COL4A4c.2800G>T (p.Glu934Ter)
c.2245G>T (p.Glu749Ter)
c.2692G>T (p.Glu898Ter)
c.1126G>T (p.Glu376Ter)
n.3110G>T
n.3126G>T
2g.227054654C>GCA350840120COL4A4c.2800G>C (p.Glu934Gln)
c.2245G>C (p.Glu749Gln)
c.2692G>C (p.Glu898Gln)
c.1126G>C (p.Glu376Gln)
n.3110G>C
n.3126G>C
2g.227054654C>TCA350840121COL4A4c.2800G>A (p.Glu934Lys)
c.2245G>A (p.Glu749Lys)
c.2692G>A (p.Glu898Lys)
c.1126G>A (p.Glu376Lys)
n.3110G>A
n.3126G>A
2g.227054655T>ACA431499282COL4A4c.2799A>T (p.Gly933=)
c.2244A>T (p.Gly748=)
c.2691A>T (p.Gly897=)
c.1125A>T (p.Gly375=)
n.3109A>T
n.3125A>T
2g.227054655T>CCA431499281COL4A4c.2799A>G (p.Gly933=)
c.2244A>G (p.Gly748=)
c.2691A>G (p.Gly897=)
c.1125A>G (p.Gly375=)
n.3109A>G
n.3125A>G
2g.227054655T>GCA431499283COL4A4c.2799A>C (p.Gly933=)
c.2244A>C (p.Gly748=)
c.2691A>C (p.Gly897=)
c.1125A>C (p.Gly375=)
n.3109A>C
n.3125A>C
2g.227054660_227054677delCA2580065867COL4A4c.2782_2799del (p.Cys928_Gly933del)
c.2227_2244del (p.Cys743_Gly748del)
c.2674_2691del (p.Cys892_Gly897del)
c.1108_1125del (p.Cys370_Gly375del)
n.3092_3109del
n.3108_3125del
 ClinVar
2g.227054656C>ACA350840123COL4A4c.2798G>T (p.Gly933Val)
c.2243G>T (p.Gly748Val)
c.2690G>T (p.Gly897Val)
c.1124G>T (p.Gly375Val)
n.3108G>T
n.3124G>T
2g.227054656C=CA1332745699COL4A4c.2798G= (p.Gly933=)
c.2243G= (p.Gly748=)
c.2690G= (p.Gly897=)
c.1124G= (p.Gly375=)
n.3108G=
n.3124G=
2g.227054656C>GCA350840125COL4A4c.2798G>C (p.Gly933Ala)
c.2243G>C (p.Gly748Ala)
c.2690G>C (p.Gly897Ala)
c.1124G>C (p.Gly375Ala)
n.3108G>C
n.3124G>C
2g.227054656C>TCA350840127COL4A4c.2798G>A (p.Gly933Glu)
c.2243G>A (p.Gly748Glu)
c.2690G>A (p.Gly897Glu)
c.1124G>A (p.Gly375Glu)
n.3108G>A
n.3124G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227054657C>ACA350840128COL4A4c.2797G>T (p.Gly933Ter)
c.2242G>T (p.Gly748Ter)
c.2689G>T (p.Gly897Ter)
c.1123G>T (p.Gly375Ter)
n.3107G>T
n.3123G>T
2g.227054657C=CA1332745700COL4A4c.2797G= (p.Gly933=)
c.2242G= (p.Gly748=)
c.2689G= (p.Gly897=)
c.1123G= (p.Gly375=)
n.3107G=
n.3123G=
2g.227054657C>GCA2144712COL4A4c.2797G>C (p.Gly933Arg)
c.2242G>C (p.Gly748Arg)
c.2689G>C (p.Gly897Arg)
c.1123G>C (p.Gly375Arg)
n.3107G>C
n.3123G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227054657C>TCA350840130COL4A4c.2797G>A (p.Gly933Arg)
c.2242G>A (p.Gly748Arg)
c.2689G>A (p.Gly897Arg)
c.1123G>A (p.Gly375Arg)
n.3107G>A
n.3123G>A
 COSMIC
2g.227054658C>ACA350840132COL4A4c.2796G>T (p.Lys932Asn)
c.2241G>T (p.Lys747Asn)
c.2688G>T (p.Lys896Asn)
c.1122G>T (p.Lys374Asn)
n.3106G>T
n.3122G>T
2g.227054658C=CA1332745701COL4A4c.2796G= (p.Lys932=)
c.2241G= (p.Lys747=)
c.2688G= (p.Lys896=)
c.1122G= (p.Lys374=)
n.3106G=
n.3122G=
2g.227054658C>GCA350840133COL4A4c.2796G>C (p.Lys932Asn)
c.2241G>C (p.Lys747Asn)
c.2688G>C (p.Lys896Asn)
c.1122G>C (p.Lys374Asn)
n.3106G>C
n.3122G>C
2g.227054658C>TCA2144713COL4A4c.2796G>A (p.Lys932=)
c.2241G>A (p.Lys747=)
c.2688G>A (p.Lys896=)
c.1122G>A (p.Lys374=)
n.3106G>A
n.3122G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227054658_227054659delinsCTCA1332745702COL4A4c.2795_2796delinsAG (p.Lys932=)
c.2240_2241delinsAG (p.Lys747=)
c.2687_2688delinsAG (p.Lys896=)
c.1121_1122delinsAG (p.Lys374=)
n.3105_3106delinsAG
n.3121_3122delinsAG
2g.227054659T>ACA350840139COL4A4c.2795A>T (p.Lys932Met)
c.2240A>T (p.Lys747Met)
c.2687A>T (p.Lys896Met)
c.1121A>T (p.Lys374Met)
n.3105A>T
n.3121A>T
2g.227054659T>CCA350840134COL4A4c.2795A>G (p.Lys932Arg)
c.2240A>G (p.Lys747Arg)
c.2687A>G (p.Lys896Arg)
c.1121A>G (p.Lys374Arg)
n.3105A>G
n.3121A>G
2g.227054659T>GCA350840136COL4A4c.2795A>C (p.Lys932Thr)
c.2240A>C (p.Lys747Thr)
c.2687A>C (p.Lys896Thr)
c.1121A>C (p.Lys374Thr)
n.3105A>C
n.3121A>C
2g.227054661delCA1332745703COL4A4c.2795del (p.Lys932ArgfsTer18)
c.2240del (p.Lys747ArgfsTer18)
c.2687del (p.Lys896ArgfsTer18)
c.1121del (p.Lys374ArgfsTer18)
n.3105del
n.3121del
 dbSNP
2g.227054660T>ACA350840140COL4A4c.2794A>T (p.Lys932Ter)
c.2239A>T (p.Lys747Ter)
c.2686A>T (p.Lys896Ter)
c.1120A>T (p.Lys374Ter)
n.3104A>T
n.3120A>T
 ClinVar
2g.227054660T>CCA350840142COL4A4c.2794A>G (p.Lys932Glu)
c.2239A>G (p.Lys747Glu)
c.2686A>G (p.Lys896Glu)
c.1120A>G (p.Lys374Glu)
n.3104A>G
n.3120A>G
2g.227054660T>GCA350840144COL4A4c.2794A>C (p.Lys932Gln)
c.2239A>C (p.Lys747Gln)
c.2686A>C (p.Lys896Gln)
c.1120A>C (p.Lys374Gln)
n.3104A>C
n.3120A>C
2g.227054660T=CA1332745704COL4A4c.2794A= (p.Lys932=)
c.2239A= (p.Lys747=)
c.2686A= (p.Lys896=)
c.1120A= (p.Lys374=)
n.3104A=
n.3120A=
2g.227054661T>ACA431499284COL4A4c.2793A>T (p.Ala931=)
c.2238A>T (p.Ala746=)
c.2685A>T (p.Ala895=)
c.1119A>T (p.Ala373=)
n.3103A>T
n.3119A>T
2g.227054661T>CCA431499285COL4A4c.2793A>G (p.Ala931=)
c.2238A>G (p.Ala746=)
c.2685A>G (p.Ala895=)
c.1119A>G (p.Ala373=)
n.3103A>G
n.3119A>G
2g.227054661T>GCA431499286COL4A4c.2793A>C (p.Ala931=)
c.2238A>C (p.Ala746=)
c.2685A>C (p.Ala895=)
c.1119A>C (p.Ala373=)
n.3103A>C
n.3119A>C
2g.227054664_227054681dupCA539874945COL4A4c.2776_2793dup (p.Ala931_Lys932insGluGlyCysProGlyAla)
c.2221_2238dup (p.Ala746_Lys747insGluGlyCysProGlyAla)
c.2668_2685dup (p.Ala895_Lys896insGluGlyCysProGlyAla)
c.1102_1119dup (p.Ala373_Lys374insGluGlyCysProGlyAla)
n.3086_3103dup
n.3102_3119dup
 dbSNP gnomAD v2 gnomAD v4
2g.227054662G>ACA66583872COL4A4c.2792C>T (p.Ala931Val)
c.2237C>T (p.Ala746Val)
c.2684C>T (p.Ala895Val)
c.1118C>T (p.Ala373Val)
n.3102C>T
n.3118C>T
 dbSNP
2g.227054662G>CCA350840147COL4A4c.2792C>G (p.Ala931Gly)
c.2237C>G (p.Ala746Gly)
c.2684C>G (p.Ala895Gly)
c.1118C>G (p.Ala373Gly)
n.3102C>G
n.3118C>G
2g.227054662G=CA1332745705COL4A4c.2792C= (p.Ala931=)
c.2237C= (p.Ala746=)
c.2684C= (p.Ala895=)
c.1118C= (p.Ala373=)
n.3102C=
n.3118C=
2g.227054662G>TCA350840148COL4A4c.2792C>A (p.Ala931Glu)
c.2237C>A (p.Ala746Glu)
c.2684C>A (p.Ala895Glu)
c.1118C>A (p.Ala373Glu)
n.3102C>A
n.3118C>A

Number of alleles fetched