| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227280487T>A | CA350849061 | COL4A3,MFF-DT | c.2271T>A (p.Phe757Leu) n.330-912A>T c.2166T>A (p.Phe722Leu) c.1032T>A (p.Phe344Leu) n.2409T>A | |
| 2 | g.227280487T>C | CA431501741 | COL4A3,MFF-DT | c.2271T>C (p.Phe757=) n.330-912A>G c.2166T>C (p.Phe722=) c.1032T>C (p.Phe344=) n.2409T>C | |
| 2 | g.227280487T>G | CA350849062 | COL4A3,MFF-DT | c.2271T>G (p.Phe757Leu) n.330-912A>C c.2166T>G (p.Phe722Leu) c.1032T>G (p.Phe344Leu) n.2409T>G | |
| 2 | g.227280488C>A | CA350849066 | COL4A3,MFF-DT | c.2272C>A (p.Pro758Thr) n.330-913G>T c.2167C>A (p.Pro723Thr) c.1033C>A (p.Pro345Thr) n.2410C>A | |
| 2 | g.227280488C>G | CA350849069 | COL4A3,MFF-DT | c.2272C>G (p.Pro758Ala) n.330-913G>C c.2167C>G (p.Pro723Ala) c.1033C>G (p.Pro345Ala) n.2410C>G | |
| 2 | g.227280488C>T | CA350849064 | COL4A3,MFF-DT | c.2272C>T (p.Pro758Ser) n.330-913G>A c.2167C>T (p.Pro723Ser) c.1033C>T (p.Pro345Ser) n.2410C>T | |
| 2 | g.227280489C>A | CA350849073 | COL4A3,MFF-DT | c.2273C>A (p.Pro758Gln) n.330-914G>T c.2168C>A (p.Pro723Gln) c.1034C>A (p.Pro345Gln) n.2411C>A | |
| 2 | g.227280489C= | CA1332849698 | COL4A3,MFF-DT | c.2273C= (p.Pro758=) n.330-914G= c.2168C= (p.Pro723=) c.1034C= (p.Pro345=) n.2411C= | |
| 2 | g.227280489C>G | CA350849074 | COL4A3,MFF-DT | c.2273C>G (p.Pro758Arg) n.330-914G>C c.2168C>G (p.Pro723Arg) c.1034C>G (p.Pro345Arg) n.2411C>G | |
| 2 | g.227280489C>T | CA350849076 | COL4A3,MFF-DT | c.2273C>T (p.Pro758Leu) n.330-914G>A c.2168C>T (p.Pro723Leu) c.1034C>T (p.Pro345Leu) n.2411C>T | dbSNP |
| 2 | g.227280490A>C | CA431501742 | COL4A3,MFF-DT | c.2274A>C (p.Pro758=) n.330-915T>G c.2169A>C (p.Pro723=) c.1035A>C (p.Pro345=) n.2412A>C | |
| 2 | g.227280490A>G | CA431501744 | COL4A3,MFF-DT | c.2274A>G (p.Pro758=) n.330-915T>C c.2169A>G (p.Pro723=) c.1035A>G (p.Pro345=) n.2412A>G | |
| 2 | g.227280490A>T | CA431501743 | COL4A3,MFF-DT | c.2274A>T (p.Pro758=) n.330-915T>A c.2169A>T (p.Pro723=) c.1035A>T (p.Pro345=) n.2412A>T | |
| 2 | g.227280491G>A | CA350849079 | COL4A3,MFF-DT | c.2275G>A (p.Gly759Arg) n.330-916C>T c.2170G>A (p.Gly724Arg) c.1036G>A (p.Gly346Arg) n.2413G>A | ClinVar dbSNP |
| 2 | g.227280491G>C | CA350849081 | COL4A3,MFF-DT | c.2275G>C (p.Gly759Arg) n.330-916C>G c.2170G>C (p.Gly724Arg) c.1036G>C (p.Gly346Arg) n.2413G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227280491G= | CA1332849699 | COL4A3,MFF-DT | c.2275G= (p.Gly759=) n.330-916C= c.2170G= (p.Gly724=) c.1036G= (p.Gly346=) n.2413G= | |
| 2 | g.227280491G>T | CA350849083 | COL4A3,MFF-DT | c.2275G>T (p.Gly759Ter) n.330-916C>A c.2170G>T (p.Gly724Ter) c.1036G>T (p.Gly346Ter) n.2413G>T | |
| 2 | g.227280492G>A | CA350849085 | COL4A3,MFF-DT | c.2276G>A (p.Gly759Glu) n.330-917C>T c.2171G>A (p.Gly724Glu) c.1037G>A (p.Gly346Glu) n.2414G>A | gnomAD v4 |
| 2 | g.227280492G>C | CA350849086 | COL4A3,MFF-DT | c.2276G>C (p.Gly759Ala) n.330-917C>G c.2171G>C (p.Gly724Ala) c.1037G>C (p.Gly346Ala) n.2414G>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227280492G= | CA1332849700 | COL4A3,MFF-DT | c.2276G= (p.Gly759=) n.330-917C= c.2171G= (p.Gly724=) c.1037G= (p.Gly346=) n.2414G= | |
| 2 | g.227280492G>T | CA350849087 | COL4A3,MFF-DT | c.2276G>T (p.Gly759Val) n.330-917C>A c.2171G>T (p.Gly724Val) c.1037G>T (p.Gly346Val) n.2414G>T | gnomAD v4 |
| 2 | g.227280493A>C | CA431501745 | COL4A3,MFF-DT | c.2277A>C (p.Gly759=) n.330-918T>G c.2172A>C (p.Gly724=) c.1038A>C (p.Gly346=) n.2415A>C | |
| 2 | g.227280493A>G | CA431501746 | COL4A3,MFF-DT | c.2277A>G (p.Gly759=) n.330-918T>C c.2172A>G (p.Gly724=) c.1038A>G (p.Gly346=) n.2415A>G | |
| 2 | g.227280493A>T | CA431501747 | COL4A3,MFF-DT | c.2277A>T (p.Gly759=) n.330-918T>A c.2172A>T (p.Gly724=) c.1038A>T (p.Gly346=) n.2415A>T | |
| 2 | g.227280494G>A | CA350849089 | COL4A3,MFF-DT | c.2278G>A (p.Glu760Lys) n.330-919C>T c.2173G>A (p.Glu725Lys) c.1039G>A (p.Glu347Lys) n.2416G>A | dbSNP gnomAD v4 |
| 2 | g.227280494G>C | CA350849090 | COL4A3,MFF-DT | c.2278G>C (p.Glu760Gln) n.330-919C>G c.2173G>C (p.Glu725Gln) c.1039G>C (p.Glu347Gln) n.2416G>C | |
| 2 | g.227280494G= | CA1332849701 | COL4A3,MFF-DT | c.2278G= (p.Glu760=) n.330-919C= c.2173G= (p.Glu725=) c.1039G= (p.Glu347=) n.2416G= | |
| 2 | g.227280494G>T | CA350849093 | COL4A3,MFF-DT | c.2278G>T (p.Glu760Ter) n.330-919C>A c.2173G>T (p.Glu725Ter) c.1039G>T (p.Glu347Ter) n.2416G>T | |
| 2 | g.227280495A= | CA1332849702 | COL4A3,MFF-DT | c.2279A= (p.Glu760=) n.330-920T= c.2174A= (p.Glu725=) c.1040A= (p.Glu347=) n.2417A= | |
| 2 | g.227280495A>C | CA350849101 | COL4A3,MFF-DT | c.2279A>C (p.Glu760Ala) n.330-920T>G c.2174A>C (p.Glu725Ala) c.1040A>C (p.Glu347Ala) n.2417A>C | |
| 2 | g.227280495A>G | CA350849103 | COL4A3,MFF-DT | c.2279A>G (p.Glu760Gly) n.330-920T>C c.2174A>G (p.Glu725Gly) c.1040A>G (p.Glu347Gly) n.2417A>G | |
| 2 | g.227280495A>T | CA2146909 | COL4A3,MFF-DT | c.2279A>T (p.Glu760Val) n.330-920T>A c.2174A>T (p.Glu725Val) c.1040A>T (p.Glu347Val) n.2417A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227280496A>C | CA350849107 | COL4A3,MFF-DT | c.2280A>C (p.Glu760Asp) n.330-921T>G c.2175A>C (p.Glu725Asp) c.1041A>C (p.Glu347Asp) n.2418A>C | |
| 2 | g.227280496A>G | CA431501754 | COL4A3,MFF-DT | c.2280A>G (p.Glu760=) n.330-921T>C c.2175A>G (p.Glu725=) c.1041A>G (p.Glu347=) n.2418A>G | ClinVar |
| 2 | g.227280496A>T | CA350849108 | COL4A3,MFF-DT | c.2280A>T (p.Glu760Asp) n.330-921T>A c.2175A>T (p.Glu725Asp) c.1041A>T (p.Glu347Asp) n.2418A>T | |
| 2 | g.227280497A>C | CA431501757 | COL4A3,MFF-DT | c.2281A>C (p.Arg761=) n.330-922T>G c.2176A>C (p.Arg726=) c.1042A>C (p.Arg348=) n.2419A>C | gnomAD v4 |
| 2 | g.227280497A>G | CA350849110 | COL4A3,MFF-DT | c.2281A>G (p.Arg761Gly) n.330-922T>C c.2176A>G (p.Arg726Gly) c.1042A>G (p.Arg348Gly) n.2419A>G | |
| 2 | g.227280497A>T | CA350849112 | COL4A3,MFF-DT | c.2281A>T (p.Arg761Ter) n.330-922T>A c.2176A>T (p.Arg726Ter) c.1042A>T (p.Arg348Ter) n.2419A>T | |
| 2 | g.227280498G>A | CA2146910 | COL4A3,MFF-DT | c.2282G>A (p.Arg761Lys) n.330-923C>T c.2177G>A (p.Arg726Lys) c.1043G>A (p.Arg348Lys) n.2420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227280498G>C | CA350849114 | COL4A3,MFF-DT | c.2282G>C (p.Arg761Thr) n.330-923C>G c.2177G>C (p.Arg726Thr) c.1043G>C (p.Arg348Thr) n.2420G>C | |
| 2 | g.227280498G= | CA1332849703 | COL4A3,MFF-DT | c.2282G= (p.Arg761=) n.330-923C= c.2177G= (p.Arg726=) c.1043G= (p.Arg348=) n.2420G= | |
| 2 | g.227280498G>T | CA350849116 | COL4A3,MFF-DT | c.2282G>T (p.Arg761Ile) n.330-923C>A c.2177G>T (p.Arg726Ile) c.1043G>T (p.Arg348Ile) n.2420G>T | |
| 2 | g.227280499A>C | CA350849118 | COL4A3,MFF-DT | c.2283A>C (p.Arg761Ser) n.330-924T>G c.2178A>C (p.Arg726Ser) c.1044A>C (p.Arg348Ser) n.2421A>C | |
| 2 | g.227280499A>G | CA431501765 | COL4A3,MFF-DT | c.2283A>G (p.Arg761=) n.330-924T>C c.2178A>G (p.Arg726=) c.1044A>G (p.Arg348=) n.2421A>G | |
| 2 | g.227280499A>T | CA350849120 | COL4A3,MFF-DT | c.2283A>T (p.Arg761Ser) n.330-924T>A c.2178A>T (p.Arg726Ser) c.1044A>T (p.Arg348Ser) n.2421A>T | |
| 2 | g.227280500G>A | CA66598668 | COL4A3,MFF-DT | c.2284G>A (p.Gly762Ser) n.330-925C>T c.2179G>A (p.Gly727Ser) c.1045G>A (p.Gly349Ser) n.2422G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227280500G>C | CA350849122 | COL4A3,MFF-DT | c.2284G>C (p.Gly762Arg) n.330-925C>G c.2179G>C (p.Gly727Arg) c.1045G>C (p.Gly349Arg) n.2422G>C | ClinVar dbSNP |
| 2 | g.227280500G= | CA1332849704 | COL4A3,MFF-DT | c.2284G= (p.Gly762=) n.330-925C= c.2179G= (p.Gly727=) c.1045G= (p.Gly349=) n.2422G= | |
| 2 | g.227280500G>T | CA350849124 | COL4A3,MFF-DT | c.2284G>T (p.Gly762Cys) n.330-925C>A c.2179G>T (p.Gly727Cys) c.1045G>T (p.Gly349Cys) n.2422G>T | |
| 2 | g.227280501G>A | CA350849125 | COL4A3,MFF-DT | c.2285G>A (p.Gly762Asp) n.330-926C>T c.2180G>A (p.Gly727Asp) c.1046G>A (p.Gly349Asp) n.2423G>A |