Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209618455G>A | CA344584952 | LAMB3 | c.2906C>T (p.Ala969Val) c.113C>T (p.Ala38Val) c.2714C>T (p.Ala905Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.209618455G>C | CA344584953 | LAMB3 | c.2906C>G (p.Ala969Gly) c.113C>G (p.Ala38Gly) c.2714C>G (p.Ala905Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618455G= | CA2484296262 | LAMB3 | c.2906C= (p.Ala969=) c.113C= (p.Ala38=) c.2714C= (p.Ala905=) | |
1 | g.209618455G>T | CA344584954 | LAMB3 | c.2906C>A (p.Ala969Asp) c.113C>A (p.Ala38Asp) c.2714C>A (p.Ala905Asp) | |
1 | g.209618456C>A | CA344584955 | LAMB3 | c.2905G>T (p.Ala969Ser) c.112G>T (p.Ala38Ser) c.2713G>T (p.Ala905Ser) | |
1 | g.209618456C>G | CA344584956 | LAMB3 | c.2905G>C (p.Ala969Pro) c.112G>C (p.Ala38Pro) c.2713G>C (p.Ala905Pro) | |
1 | g.209618456C>T | CA344584957 | LAMB3 | c.2905G>A (p.Ala969Thr) c.112G>A (p.Ala38Thr) c.2713G>A (p.Ala905Thr) | |
1 | g.209618457T>A | CA344584958 | LAMB3 | c.2904A>T (p.Glu968Asp) c.111A>T (p.Glu37Asp) c.2712A>T (p.Glu904Asp) | |
1 | g.209618457T>C | CA423029892 | LAMB3 | c.2904A>G (p.Glu968=) c.111A>G (p.Glu37=) c.2712A>G (p.Glu904=) | |
1 | g.209618457T>G | CA344584959 | LAMB3 | c.2904A>C (p.Glu968Asp) c.111A>C (p.Glu37Asp) c.2712A>C (p.Glu904Asp) | |
1 | g.209618458T>A | CA344584960 | LAMB3 | c.2903A>T (p.Glu968Val) c.110A>T (p.Glu37Val) c.2711A>T (p.Glu904Val) | |
1 | g.209618458T>C | CA344584961 | LAMB3 | c.2903A>G (p.Glu968Gly) c.110A>G (p.Glu37Gly) c.2711A>G (p.Glu904Gly) | |
1 | g.209618458T>G | CA344584962 | LAMB3 | c.2903A>C (p.Glu968Ala) c.110A>C (p.Glu37Ala) c.2711A>C (p.Glu904Ala) | |
1 | g.209618459C>A | CA344584964 | LAMB3 | c.2902G>T (p.Glu968Ter) c.109G>T (p.Glu37Ter) c.2710G>T (p.Glu904Ter) | |
1 | g.209618459C>G | CA344584965 | LAMB3 | c.2902G>C (p.Glu968Gln) c.109G>C (p.Glu37Gln) c.2710G>C (p.Glu904Gln) | |
1 | g.209618459C>T | CA344584963 | LAMB3 | c.2902G>A (p.Glu968Lys) c.109G>A (p.Glu37Lys) c.2710G>A (p.Glu904Lys) | |
1 | g.209618468_209618473dup | CA2573999136 | LAMB3 | c.2897_2902dup (p.Glu967_Glu968insAlaGlu) c.104_109dup (p.Glu36_Glu37insAlaGlu) c.2705_2710dup (p.Glu903_Glu904insAlaGlu) | gnomAD v4 |
1 | g.209618460C>A | CA344584966 | LAMB3 | c.2901G>T (p.Glu967Asp) c.108G>T (p.Glu36Asp) c.2709G>T (p.Glu903Asp) | |
1 | g.209618460C>G | CA344584967 | LAMB3 | c.2901G>C (p.Glu967Asp) c.108G>C (p.Glu36Asp) c.2709G>C (p.Glu903Asp) | |
1 | g.209618460C>T | CA423029897 | LAMB3 | c.2901G>A (p.Glu967=) c.108G>A (p.Glu36=) c.2709G>A (p.Glu903=) | gnomAD v4 |
1 | g.209618461T>A | CA344584968 | LAMB3 | c.2900A>T (p.Glu967Val) c.107A>T (p.Glu36Val) c.2708A>T (p.Glu903Val) | |
1 | g.209618461T>C | CA344584969 | LAMB3 | c.2900A>G (p.Glu967Gly) c.107A>G (p.Glu36Gly) c.2708A>G (p.Glu903Gly) | gnomAD v4 |
1 | g.209618461T>G | CA344584970 | LAMB3 | c.2900A>C (p.Glu967Ala) c.107A>C (p.Glu36Ala) c.2708A>C (p.Glu903Ala) | |
1 | g.209618462C>A | CA344584971 | LAMB3 | c.2899G>T (p.Glu967Ter) c.106G>T (p.Glu36Ter) c.2707G>T (p.Glu903Ter) | |
1 | g.209618462C= | CA2484296263 | LAMB3 | c.2899G= (p.Glu967=) c.106G= (p.Glu36=) c.2707G= (p.Glu903=) | |
1 | g.209618462C>G | CA344584972 | LAMB3 | c.2899G>C (p.Glu967Gln) c.106G>C (p.Glu36Gln) c.2707G>C (p.Glu903Gln) | |
1 | g.209618462C>T | CA344584973 | LAMB3 | c.2899G>A (p.Glu967Lys) c.106G>A (p.Glu36Lys) c.2707G>A (p.Glu903Lys) | dbSNP |
1 | g.209618463A= | CA2484296264 | LAMB3 | c.2898T= (p.Ala966=) c.105T= (p.Ala35=) c.2706T= (p.Ala902=) | |
1 | g.209618463A>C | CA423029902 | LAMB3 | c.2898T>G (p.Ala966=) c.105T>G (p.Ala35=) c.2706T>G (p.Ala902=) | |
1 | g.209618463A>G | CA423029903 | LAMB3 | c.2898T>C (p.Ala966=) c.105T>C (p.Ala35=) c.2706T>C (p.Ala902=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618463A>T | CA423029904 | LAMB3 | c.2898T>A (p.Ala966=) c.105T>A (p.Ala35=) c.2706T>A (p.Ala902=) | |
1 | g.209618464G>A | CA1375068 | LAMB3 | c.2897C>T (p.Ala966Val) c.104C>T (p.Ala35Val) c.2705C>T (p.Ala902Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618464G>C | CA344584974 | LAMB3 | c.2897C>G (p.Ala966Gly) c.104C>G (p.Ala35Gly) c.2705C>G (p.Ala902Gly) | |
1 | g.209618464G= | CA1143492935 | LAMB3 | c.2897C= (p.Ala966=) c.104C= (p.Ala35=) c.2705C= (p.Ala902=) | |
1 | g.209618464G>T | CA344584975 | LAMB3 | c.2897C>A (p.Ala966Asp) c.104C>A (p.Ala35Asp) c.2705C>A (p.Ala902Asp) | |
1 | g.209618465C>A | CA344584976 | LAMB3 | c.2896G>T (p.Ala966Ser) c.103G>T (p.Ala35Ser) c.2704G>T (p.Ala902Ser) | |
1 | g.209618465C>G | CA344584977 | LAMB3 | c.2896G>C (p.Ala966Pro) c.103G>C (p.Ala35Pro) c.2704G>C (p.Ala902Pro) | |
1 | g.209618465C>T | CA344584978 | LAMB3 | c.2896G>A (p.Ala966Thr) c.103G>A (p.Ala35Thr) c.2704G>A (p.Ala902Thr) | |
1 | g.209618466C>A | CA344584979 | LAMB3 | c.2895G>T (p.Glu965Asp) c.102G>T (p.Glu34Asp) c.2703G>T (p.Glu901Asp) | |
1 | g.209618466C>G | CA344584980 | LAMB3 | c.2895G>C (p.Glu965Asp) c.102G>C (p.Glu34Asp) c.2703G>C (p.Glu901Asp) | |
1 | g.209618466C>T | CA423029908 | LAMB3 | c.2895G>A (p.Glu965=) c.102G>A (p.Glu34=) c.2703G>A (p.Glu901=) | |
1 | g.209618467T>A | CA344584981 | LAMB3 | c.2894A>T (p.Glu965Val) c.101A>T (p.Glu34Val) c.2702A>T (p.Glu901Val) | |
1 | g.209618467T>C | CA344584982 | LAMB3 | c.2894A>G (p.Glu965Gly) c.101A>G (p.Glu34Gly) c.2702A>G (p.Glu901Gly) | |
1 | g.209618467T>G | CA344584983 | LAMB3 | c.2894A>C (p.Glu965Ala) c.101A>C (p.Glu34Ala) c.2702A>C (p.Glu901Ala) | |
1 | g.209618468C>A | CA344584984 | LAMB3 | c.2893G>T (p.Glu965Ter) c.100G>T (p.Glu34Ter) c.2701G>T (p.Glu901Ter) | |
1 | g.209618468C>G | CA344584985 | LAMB3 | c.2893G>C (p.Glu965Gln) c.100G>C (p.Glu34Gln) c.2701G>C (p.Glu901Gln) | |
1 | g.209618468C>T | CA344584986 | LAMB3 | c.2893G>A (p.Glu965Lys) c.100G>A (p.Glu34Lys) c.2701G>A (p.Glu901Lys) | |
1 | g.209618469A>C | CA423029913 | LAMB3 | c.2892T>G (p.Ala964=) c.99T>G (p.Ala33=) c.2700T>G (p.Ala900=) | |
1 | g.209618469A>G | CA423029914 | LAMB3 | c.2892T>C (p.Ala964=) c.99T>C (p.Ala33=) c.2700T>C (p.Ala900=) | gnomAD v4 |
1 | g.209618469A>T | CA423029917 | LAMB3 | c.2892T>A (p.Ala964=) c.99T>A (p.Ala33=) c.2700T>A (p.Ala900=) |