Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
1 | g.209618470G>A | CA344584987 | LAMB3 | c.2891C>T (p.Ala964Val) c.98C>T (p.Ala33Val) c.2699C>T (p.Ala900Val) | |
1 | g.209618470G>C | CA344584988 | LAMB3 | c.2891C>G (p.Ala964Gly) c.98C>G (p.Ala33Gly) c.2699C>G (p.Ala900Gly) | |
1 | g.209618470G>T | CA344584989 | LAMB3 | c.2891C>A (p.Ala964Asp) c.98C>A (p.Ala33Asp) c.2699C>A (p.Ala900Asp) | |
1 | g.209618470_209618497del | CA913072623 | LAMB3 | c.2864_2891del (p.Asp955ValfsTer?) c.71_98del (p.Asp24ValfsTer?) c.2672_2699del (p.Asp891ValfsTer?) | |
1 | g.209618470_209618497delinsGCCTGCAACCGGCGGGCACGCGCAATGT | CA2484296265 | LAMB3 | c.2864_2891delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp955=) c.71_98delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp24=) c.2672_2699delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp891=) | |
1 | g.209618471C>A | CA344584990 | LAMB3 | c.2890G>T (p.Ala964Ser) c.97G>T (p.Ala33Ser) c.2698G>T (p.Ala900Ser) | gnomAD v4 |
1 | g.209618471C>G | CA344584991 | LAMB3 | c.2890G>C (p.Ala964Pro) c.97G>C (p.Ala33Pro) c.2698G>C (p.Ala900Pro) | |
1 | g.209618471C>T | CA344584992 | LAMB3 | c.2890G>A (p.Ala964Thr) c.97G>A (p.Ala33Thr) c.2698G>A (p.Ala900Thr) | |
1 | g.209618471_209618502delinsCCTGCAACCGGCGGGCACGCGCAATGTCCTGC | CA1148245821 | LAMB3 | c.2859_2890delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys953=) c.66_97delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys22=) c.2667_2698delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys889=) | |
1 | g.209618476_209618502del | CA1375069 | LAMB3 | c.2864_2890del (p.Asp955_Gln963del) c.71_97del (p.Asp24_Gln32del) c.2672_2698del (p.Asp891_Gln899del) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.209618472C>A | CA344584993 | LAMB3 | c.2889G>T (p.Gln963His) c.96G>T (p.Gln32His) c.2697G>T (p.Gln899His) | |
1 | g.209618472C>G | CA344584994 | LAMB3 | c.2889G>C (p.Gln963His) c.96G>C (p.Gln32His) c.2697G>C (p.Gln899His) | |
1 | g.209618472C>T | CA423029922 | LAMB3 | c.2889G>A (p.Gln963=) c.96G>A (p.Gln32=) c.2697G>A (p.Gln899=) | |
1 | g.209618473T>A | CA344584995 | LAMB3 | c.2888A>T (p.Gln963Leu) c.95A>T (p.Gln32Leu) c.2696A>T (p.Gln899Leu) | |
1 | g.209618473T>C | CA344584997 | LAMB3 | c.2888A>G (p.Gln963Arg) c.95A>G (p.Gln32Arg) c.2696A>G (p.Gln899Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618473T>G | CA344584996 | LAMB3 | c.2888A>C (p.Gln963Pro) c.95A>C (p.Gln32Pro) c.2696A>C (p.Gln899Pro) | |
1 | g.209618473T= | CA2484296266 | LAMB3 | c.2888A= (p.Gln963=) c.95A= (p.Gln32=) c.2696A= (p.Gln899=) | |
1 | g.209618474G>A | CA344584998 | LAMB3 | c.2887C>T (p.Gln963Ter) c.94C>T (p.Gln32Ter) c.2695C>T (p.Gln899Ter) | |
1 | g.209618474G>C | CA344584999 | LAMB3 | c.2887C>G (p.Gln963Glu) c.94C>G (p.Gln32Glu) c.2695C>G (p.Gln899Glu) | gnomAD v4 |
1 | g.209618474G>T | CA344585000 | LAMB3 | c.2887C>A (p.Gln963Lys) c.94C>A (p.Gln32Lys) c.2695C>A (p.Gln899Lys) | |
1 | g.209618475C>A | CA344585001 | LAMB3 | c.2886G>T (p.Leu962Phe) c.93G>T (p.Leu31Phe) c.2694G>T (p.Leu898Phe) | |
1 | g.209618475C>G | CA344585002 | LAMB3 | c.2886G>C (p.Leu962Phe) c.93G>C (p.Leu31Phe) c.2694G>C (p.Leu898Phe) | gnomAD v4 |