Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209618428G>T | CA2650320620 | LAMB3 | c.2909+24C>A (n.2909+24C>A) c.116+24C>A (n.116+24C>A) c.2717+24C>A (n.2717+24C>A) | gnomAD v4 |
1 | g.209618429A>G | CA2650320621 | LAMB3 | c.2909+23T>C (n.2909+23T>C) c.116+23T>C (n.116+23T>C) c.2717+23T>C (n.2717+23T>C) | gnomAD v4 |
1 | g.209618431G= | CA2484296254 | LAMB3 | c.2909+21C= (n.2909+21C=) c.116+21C= (n.116+21C=) c.2717+21C= (n.2717+21C=) | |
1 | g.209618431G>T | CA730846930 | LAMB3 | c.2909+21C>A (n.2909+21C>A) c.116+21C>A (n.116+21C>A) c.2717+21C>A (n.2717+21C>A) | dbSNP gnomAD v4 |
1 | g.209618433T>C | CA2484296256 | LAMB3 | c.2909+19A>G (n.2909+19A>G) c.116+19A>G (n.116+19A>G) c.2717+19A>G (n.2717+19A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209618433T>G | CA2573999030 | LAMB3 | c.2909+19A>C (n.2909+19A>C) c.116+19A>C (n.116+19A>C) c.2717+19A>C (n.2717+19A>C) | |
1 | g.209618433T= | CA2484296255 | LAMB3 | c.2909+19A= (n.2909+19A=) c.116+19A= (n.116+19A=) c.2717+19A= (n.2717+19A=) | |
1 | g.209618434del | CA2573999045 | LAMB3 | c.2909+18del (n.2909+18del) c.116+18del (n.116+18del) c.2717+18del (n.2717+18del) | |
1 | g.209618434C>G | CA2739275570 | LAMB3 | c.2909+18G>C (n.2909+18G>C) c.116+18G>C (n.116+18G>C) c.2717+18G>C (n.2717+18G>C) | ClinVar |
1 | g.209618435A= | CA2484296257 | LAMB3 | c.2909+17T= (n.2909+17T=) c.116+17T= (n.116+17T=) c.2717+17T= (n.2717+17T=) | |
1 | g.209618435A>G | CA2484296258 | LAMB3 | c.2909+17T>C (n.2909+17T>C) c.116+17T>C (n.116+17T>C) c.2717+17T>C (n.2717+17T>C) | dbSNP |
1 | g.209618437G>A | CA2650320622 | LAMB3 | c.2909+15C>T (n.2909+15C>T) c.116+15C>T (n.116+15C>T) c.2717+15C>T (n.2717+15C>T) | gnomAD v4 |
1 | g.209618437G>C | CA2650320623 | LAMB3 | c.2909+15C>G (n.2909+15C>G) c.116+15C>G (n.116+15C>G) c.2717+15C>G (n.2717+15C>G) | gnomAD v4 |
1 | g.209618438G>A | CA36750123 | LAMB3 | c.2909+14C>T (n.2909+14C>T) c.116+14C>T (n.116+14C>T) c.2717+14C>T (n.2717+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618438G= | CA1146528845 | LAMB3 | c.2909+14C= (n.2909+14C=) c.116+14C= (n.116+14C=) c.2717+14C= (n.2717+14C=) | |
1 | g.209618439C= | CA1144170581 | LAMB3 | c.2909+13G= (n.2909+13G=) c.116+13G= (n.116+13G=) c.2717+13G= (n.2717+13G=) | |
1 | g.209618439C>T | CA1375067 | LAMB3 | c.2909+13G>A (n.2909+13G>A) c.116+13G>A (n.116+13G>A) c.2717+13G>A (n.2717+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618441dup | CA2573999052 | LAMB3 | c.2909+13dup (n.2909+13dup) c.116+13dup (n.116+13dup) c.2717+13dup (n.2717+13dup) | |
1 | g.209618440C>T | CA2739275571 | LAMB3 | c.2909+12G>A (n.2909+12G>A) c.116+12G>A (n.116+12G>A) c.2717+12G>A (n.2717+12G>A) | ClinVar |
1 | g.209618441C>A | CA2650320624 | LAMB3 | c.2909+11G>T (n.2909+11G>T) c.116+11G>T (n.116+11G>T) c.2717+11G>T (n.2717+11G>T) | ClinVar gnomAD v4 |
1 | g.209618441C= | CA2484296259 | LAMB3 | c.2909+11G= (n.2909+11G=) c.116+11G= (n.116+11G=) c.2717+11G= (n.2717+11G=) | |
1 | g.209618441C>T | CA730846933 | LAMB3 | c.2909+11G>A (n.2909+11G>A) c.116+11G>A (n.116+11G>A) c.2717+11G>A (n.2717+11G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209618442A>G | CA2573130641 | LAMB3 | c.2909+10T>C (n.2909+10T>C) c.116+10T>C (n.116+10T>C) c.2717+10T>C (n.2717+10T>C) | ClinVar dbSNP |
1 | g.209618444G>A | CA2484296261 | LAMB3 | c.2909+8C>T (n.2909+8C>T) c.116+8C>T (n.116+8C>T) c.2717+8C>T (n.2717+8C>T) | dbSNP |
1 | g.209618444G= | CA2484296260 | LAMB3 | c.2909+8C= (n.2909+8C=) c.116+8C= (n.116+8C=) c.2717+8C= (n.2717+8C=) | |
1 | g.209618444G>T | CA2573999098 | LAMB3 | c.2909+8C>A (n.2909+8C>A) c.116+8C>A (n.116+8C>A) c.2717+8C>A (n.2717+8C>A) | |
1 | g.209618446C>T | CA2573999102 | LAMB3 | c.2909+6G>A (n.2909+6G>A) c.116+6G>A (n.116+6G>A) c.2717+6G>A (n.2717+6G>A) | gnomAD v4 |
1 | g.209618449T>C | CA2650320625 | LAMB3 | c.2909+3A>G (n.2909+3A>G) c.116+3A>G (n.116+3A>G) c.2717+3A>G (n.2717+3A>G) | gnomAD v4 |
1 | g.209618450A>C | CA344584941 | LAMB3 | c.2909+2T>G (n.2909+2T>G) c.116+2T>G (n.116+2T>G) c.2717+2T>G (n.2717+2T>G) | |
1 | g.209618450A>G | CA344584942 | LAMB3 | c.2909+2T>C (n.2909+2T>C) c.116+2T>C (n.116+2T>C) c.2717+2T>C (n.2717+2T>C) | |
1 | g.209618450A>T | CA344584943 | LAMB3 | c.2909+2T>A (n.2909+2T>A) c.116+2T>A (n.116+2T>A) c.2717+2T>A (n.2717+2T>A) | |
1 | g.209618451C>A | CA344584944 | LAMB3 | c.2909+1G>T (n.2909+1G>T) c.116+1G>T (n.116+1G>T) c.2717+1G>T (n.2717+1G>T) | |
1 | g.209618451C>G | CA344584945 | LAMB3 | c.2909+1G>C (n.2909+1G>C) c.116+1G>C (n.116+1G>C) c.2717+1G>C (n.2717+1G>C) | |
1 | g.209618451C>T | CA344584946 | LAMB3 | c.2909+1G>A (n.2909+1G>A) c.116+1G>A (n.116+1G>A) c.2717+1G>A (n.2717+1G>A) | |
1 | g.209618452C>A | CA344584947 | LAMB3 | c.2909G>T (p.Arg970Met) c.116G>T (p.Arg39Met) c.2717G>T (p.Arg906Met) | |
1 | g.209618452C>G | CA344584948 | LAMB3 | c.2909G>C (p.Arg970Thr) c.116G>C (p.Arg39Thr) c.2717G>C (p.Arg906Thr) | gnomAD v4 |
1 | g.209618452C>T | CA344584949 | LAMB3 | c.2909G>A (p.Arg970Lys) c.116G>A (p.Arg39Lys) c.2717G>A (p.Arg906Lys) | gnomAD v4 |
1 | g.209618453T>A | CA344584950 | LAMB3 | c.2908A>T (p.Arg970Trp) c.115A>T (p.Arg39Trp) c.2716A>T (p.Arg906Trp) | |
1 | g.209618453T>C | CA344584951 | LAMB3 | c.2908A>G (p.Arg970Gly) c.115A>G (p.Arg39Gly) c.2716A>G (p.Arg906Gly) | |
1 | g.209618453T>G | CA423029885 | LAMB3 | c.2908A>C (p.Arg970=) c.115A>C (p.Arg39=) c.2716A>C (p.Arg906=) | |
1 | g.209618454G>A | CA423029888 | LAMB3 | c.2907C>T (p.Ala969=) c.114C>T (p.Ala38=) c.2715C>T (p.Ala905=) | |
1 | g.209618454G>C | CA423029889 | LAMB3 | c.2907C>G (p.Ala969=) c.114C>G (p.Ala38=) c.2715C>G (p.Ala905=) | |
1 | g.209618454G>T | CA423029886 | LAMB3 | c.2907C>A (p.Ala969=) c.114C>A (p.Ala38=) c.2715C>A (p.Ala905=) | |
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=) | |
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 |
1 | g.209618475C>T | CA423029932 | LAMB3 | c.2886G>A (p.Leu962=) c.93G>A (p.Leu31=) c.2694G>A (p.Leu898=) | |
1 | g.209618476A>C | CA344585003 | LAMB3 | c.2885T>G (p.Leu962Trp) c.92T>G (p.Leu31Trp) c.2693T>G (p.Leu898Trp) | |
1 | g.209618476A>G | CA344585004 | LAMB3 | c.2885T>C (p.Leu962Ser) c.92T>C (p.Leu31Ser) c.2693T>C (p.Leu898Ser) | COSMIC |
1 | g.209618476A>T | CA344585005 | LAMB3 | c.2885T>A (p.Leu962Ter) c.92T>A (p.Leu31Ter) c.2693T>A (p.Leu898Ter) | |
1 | g.209618477A>C | CA344585006 | LAMB3 | c.2884T>G (p.Leu962Val) c.91T>G (p.Leu31Val) c.2692T>G (p.Leu898Val) | gnomAD v4 |
1 | g.209618477A>G | CA423029937 | LAMB3 | c.2884T>C (p.Leu962=) c.91T>C (p.Leu31=) c.2692T>C (p.Leu898=) | |
1 | g.209618477A>T | CA344585007 | LAMB3 | c.2884T>A (p.Leu962Met) c.91T>A (p.Leu31Met) c.2692T>A (p.Leu898Met) | |
1 | g.209618478C>A | CA423029941 | LAMB3 | c.2883G>T (p.Arg961=) c.90G>T (p.Arg30=) c.2691G>T (p.Arg897=) | |
1 | g.209618478C= | CA2484296267 | LAMB3 | c.2883G= (p.Arg961=) c.90G= (p.Arg30=) c.2691G= (p.Arg897=) | |
1 | g.209618478C>G | CA423029940 | LAMB3 | c.2883G>C (p.Arg961=) c.90G>C (p.Arg30=) c.2691G>C (p.Arg897=) | |
1 | g.209618478C>T | CA423029939 | LAMB3 | c.2883G>A (p.Arg961=) c.90G>A (p.Arg30=) c.2691G>A (p.Arg897=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209618479C>A | CA344585008 | LAMB3 | c.2882G>T (p.Arg961Leu) c.89G>T (p.Arg30Leu) c.2690G>T (p.Arg897Leu) | |
1 | g.209618479C= | CA1144706481 | LAMB3 | c.2882G= (p.Arg961=) c.89G= (p.Arg30=) c.2690G= (p.Arg897=) | |
1 | g.209618479C>G | CA344585009 | LAMB3 | c.2882G>C (p.Arg961Pro) c.89G>C (p.Arg30Pro) c.2690G>C (p.Arg897Pro) | |
1 | g.209618479C>T | CA1375070 | LAMB3 | c.2882G>A (p.Arg961Gln) c.89G>A (p.Arg30Gln) c.2690G>A (p.Arg897Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209618480G>A | CA1375071 | LAMB3 | c.2881C>T (p.Arg961Trp) c.88C>T (p.Arg30Trp) c.2689C>T (p.Arg897Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618480G>C | CA344585010 | LAMB3 | c.2881C>G (p.Arg961Gly) c.88C>G (p.Arg30Gly) c.2689C>G (p.Arg897Gly) | dbSNP |
1 | g.209618480G= | CA1141086049 | LAMB3 | c.2881C= (p.Arg961=) c.88C= (p.Arg30=) c.2689C= (p.Arg897=) | |
1 | g.209618480G>T | CA423029942 | LAMB3 | c.2881C>A (p.Arg961=) c.88C>A (p.Arg30=) c.2689C>A (p.Arg897=) | |
1 | g.209618481G>A | CA423029947 | LAMB3 | c.2880C>T (p.Arg960=) c.87C>T (p.Arg29=) c.2688C>T (p.Arg896=) | |
1 | g.209618481G>C | CA423029944 | LAMB3 | c.2880C>G (p.Arg960=) c.87C>G (p.Arg29=) c.2688C>G (p.Arg896=) | |
1 | g.209618481G>T | CA423029946 | LAMB3 | c.2880C>A (p.Arg960=) c.87C>A (p.Arg29=) c.2688C>A (p.Arg896=) | |
1 | g.209618482C>A | CA344585011 | LAMB3 | c.2879G>T (p.Arg960Leu) c.86G>T (p.Arg29Leu) c.2687G>T (p.Arg896Leu) | |
1 | g.209618482C= | CA1141833429 | LAMB3 | c.2879G= (p.Arg960=) c.86G= (p.Arg29=) c.2687G= (p.Arg896=) | |
1 | g.209618482C>G | CA344585012 | LAMB3 | c.2879G>C (p.Arg960Pro) c.86G>C (p.Arg29Pro) c.2687G>C (p.Arg896Pro) | |
1 | g.209618482C>T | CA1375072 | LAMB3 | c.2879G>A (p.Arg960His) c.86G>A (p.Arg29His) c.2687G>A (p.Arg896His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618483G>A | CA1375073 | LAMB3 | c.2878C>T (p.Arg960Cys) c.85C>T (p.Arg29Cys) c.2686C>T (p.Arg896Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618483G>C | CA344585013 | LAMB3 | c.2878C>G (p.Arg960Gly) c.85C>G (p.Arg29Gly) c.2686C>G (p.Arg896Gly) | |
1 | g.209618483G= | CA1142120403 | LAMB3 | c.2878C= (p.Arg960=) c.85C= (p.Arg29=) c.2686C= (p.Arg896=) | |
1 | g.209618483G>T | CA344585014 | LAMB3 | c.2878C>A (p.Arg960Ser) c.85C>A (p.Arg29Ser) c.2686C>A (p.Arg896Ser) | |
1 | g.209618485del | CA2650320626 | LAMB3 | c.2878del (p.Arg960AlafsTer?) c.85del (p.Arg29AlafsTer?) c.2686del (p.Arg896AlafsTer?) | gnomAD v4 |
1 | g.209618484G>A | CA1375074 | LAMB3 | c.2877C>T (p.Ala959=) c.84C>T (p.Ala28=) c.2685C>T (p.Ala895=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209618484G>C | CA423029948 | LAMB3 | c.2877C>G (p.Ala959=) c.84C>G (p.Ala28=) c.2685C>G (p.Ala895=) | |
1 | g.209618484G= | CA2484296268 | LAMB3 | c.2877C= (p.Ala959=) c.84C= (p.Ala28=) c.2685C= (p.Ala895=) | |
1 | g.209618484G>T | CA423029949 | LAMB3 | c.2877C>A (p.Ala959=) c.84C>A (p.Ala28=) c.2685C>A (p.Ala895=) | |
1 | g.209618485G>A | CA344585015 | LAMB3 | c.2876C>T (p.Ala959Val) c.83C>T (p.Ala28Val) c.2684C>T (p.Ala895Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618485G>C | CA344585016 | LAMB3 | c.2876C>G (p.Ala959Gly) c.83C>G (p.Ala28Gly) c.2684C>G (p.Ala895Gly) | |
1 | g.209618485G= | CA2484296269 | LAMB3 | c.2876C= (p.Ala959=) c.83C= (p.Ala28=) c.2684C= (p.Ala895=) | |
1 | g.209618485G>T | CA344585017 | LAMB3 | c.2876C>A (p.Ala959Asp) c.83C>A (p.Ala28Asp) c.2684C>A (p.Ala895Asp) | dbSNP gnomAD v4 |
1 | g.209618486C>A | CA344585018 | LAMB3 | c.2875G>T (p.Ala959Ser) c.82G>T (p.Ala28Ser) c.2683G>T (p.Ala895Ser) | |
1 | g.209618486C>G | CA344585019 | LAMB3 | c.2875G>C (p.Ala959Pro) c.82G>C (p.Ala28Pro) c.2683G>C (p.Ala895Pro) | |
1 | g.209618486C>T | CA344585020 | LAMB3 | c.2875G>A (p.Ala959Thr) c.82G>A (p.Ala28Thr) c.2683G>A (p.Ala895Thr) | |
1 | g.209618487A>C | CA423029955 | LAMB3 | c.2874T>G (p.Arg958=) c.81T>G (p.Arg27=) c.2682T>G (p.Arg894=) | |
1 | g.209618487A>G | CA423029956 | LAMB3 | c.2874T>C (p.Arg958=) c.81T>C (p.Arg27=) c.2682T>C (p.Arg894=) | |
1 | g.209618487A>T | CA423029957 | LAMB3 | c.2874T>A (p.Arg958=) c.81T>A (p.Arg27=) c.2682T>A (p.Arg894=) | |
1 | g.209618488C>A | CA1375076 | LAMB3 | c.2873G>T (p.Arg958Leu) c.80G>T (p.Arg27Leu) c.2681G>T (p.Arg894Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618488C= | CA1141901668 | LAMB3 | c.2873G= (p.Arg958=) c.80G= (p.Arg27=) c.2681G= (p.Arg894=) | |
1 | g.209618488C>G | CA344585021 | LAMB3 | c.2873G>C (p.Arg958Pro) c.80G>C (p.Arg27Pro) c.2681G>C (p.Arg894Pro) | |
1 | g.209618488C>T | CA1375075 | LAMB3 | c.2873G>A (p.Arg958His) c.80G>A (p.Arg27His) c.2681G>A (p.Arg894His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618489del | CA2499214416 | LAMB3 | c.2872del (p.Arg958ValfsTer?) c.79del (p.Arg27ValfsTer?) c.2680del (p.Arg894ValfsTer?) | ClinVar dbSNP |
1 | g.209618489G>A | CA1375077 | LAMB3 | c.2872C>T (p.Arg958Cys) c.79C>T (p.Arg27Cys) c.2680C>T (p.Arg894Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209618489G>C | CA344585022 | LAMB3 | c.2872C>G (p.Arg958Gly) c.79C>G (p.Arg27Gly) c.2680C>G (p.Arg894Gly) | |
1 | g.209618489G= | CA1144210239 | LAMB3 | c.2872C= (p.Arg958=) c.79C= (p.Arg27=) c.2680C= (p.Arg894=) | |
1 | g.209618489G>T | CA344585023 | LAMB3 | c.2872C>A (p.Arg958Ser) c.79C>A (p.Arg27Ser) c.2680C>A (p.Arg894Ser) | |
1 | g.209618490C>A | CA423029961 | LAMB3 | c.2871G>T (p.Ala957=) c.78G>T (p.Ala26=) c.2679G>T (p.Ala893=) | |
1 | g.209618490C= | CA1141913003 | LAMB3 | c.2871G= (p.Ala957=) c.78G= (p.Ala26=) c.2679G= (p.Ala893=) | |
1 | g.209618490C>G | CA36750139 | LAMB3 | c.2871G>C (p.Ala957=) c.78G>C (p.Ala26=) c.2679G>C (p.Ala893=) | ClinVar dbSNP gnomAD v4 |
1 | g.209618490C>T | CA1375078 | LAMB3 | c.2871G>A (p.Ala957=) c.78G>A (p.Ala26=) c.2679G>A (p.Ala893=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209618491G>A | CA1375079 | LAMB3 | c.2870C>T (p.Ala957Val) c.77C>T (p.Ala26Val) c.2678C>T (p.Ala893Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618491G>C | CA344585024 | LAMB3 | c.2870C>G (p.Ala957Gly) c.77C>G (p.Ala26Gly) c.2678C>G (p.Ala893Gly) | |
1 | g.209618491G= | CA1142313785 | LAMB3 | c.2870C= (p.Ala957=) c.77C= (p.Ala26=) c.2678C= (p.Ala893=) | |
1 | g.209618491G>T | CA344585025 | LAMB3 | c.2870C>A (p.Ala957Glu) c.77C>A (p.Ala26Glu) c.2678C>A (p.Ala893Glu) | gnomAD v4 |
1 | g.209618492C>A | CA344585026 | LAMB3 | c.2869G>T (p.Ala957Ser) c.76G>T (p.Ala26Ser) c.2677G>T (p.Ala893Ser) | |
1 | g.209618492C= | CA2484296270 | LAMB3 | c.2869G= (p.Ala957=) c.76G= (p.Ala26=) c.2677G= (p.Ala893=) | |
1 | g.209618492C>G | CA344585027 | LAMB3 | c.2869G>C (p.Ala957Pro) c.76G>C (p.Ala26Pro) c.2677G>C (p.Ala893Pro) | |
1 | g.209618492C>T | CA36750140 | LAMB3 | c.2869G>A (p.Ala957Thr) c.76G>A (p.Ala26Thr) c.2677G>A (p.Ala893Thr) | dbSNP COSMIC |
1 | g.209618493A= | CA2484296271 | LAMB3 | c.2868T= (p.Ile956=) c.75T= (p.Ile25=) c.2676T= (p.Ile892=) | |
1 | g.209618493A>C | CA344585028 | LAMB3 | c.2868T>G (p.Ile956Met) c.75T>G (p.Ile25Met) c.2676T>G (p.Ile892Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209618493A>G | CA423029969 | LAMB3 | c.2868T>C (p.Ile956=) c.75T>C (p.Ile25=) c.2676T>C (p.Ile892=) | |
1 | g.209618493A>T | CA423029970 | LAMB3 | c.2868T>A (p.Ile956=) c.75T>A (p.Ile25=) c.2676T>A (p.Ile892=) | |
1 | g.209618494A>C | CA344585031 | LAMB3 | c.2867T>G (p.Ile956Ser) c.74T>G (p.Ile25Ser) c.2675T>G (p.Ile892Ser) | |
1 | g.209618494A>G | CA344585029 | LAMB3 | c.2867T>C (p.Ile956Thr) c.74T>C (p.Ile25Thr) c.2675T>C (p.Ile892Thr) | |
1 | g.209618494A>T | CA344585030 | LAMB3 | c.2867T>A (p.Ile956Asn) c.74T>A (p.Ile25Asn) c.2675T>A (p.Ile892Asn) | |
1 | g.209618494_209618495delinsAT | CA2484296272 | LAMB3 | c.2866_2867delinsAT (p.Ile956=) c.73_74delinsAT (p.Ile25=) c.2674_2675delinsAT (p.Ile892=) | |
1 | g.209618495del | CA730847062 | LAMB3 | c.2866del (p.Ile956LeufsTer?) c.73del (p.Ile25LeufsTer?) c.2674del (p.Ile892LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209618495T>A | CA344585032 | LAMB3 | c.2866A>T (p.Ile956Phe) c.73A>T (p.Ile25Phe) c.2674A>T (p.Ile892Phe) | |
1 | g.209618495T>C | CA344585033 | LAMB3 | c.2866A>G (p.Ile956Val) c.73A>G (p.Ile25Val) c.2674A>G (p.Ile892Val) | |
1 | g.209618495T>G | CA344585034 | LAMB3 | c.2866A>C (p.Ile956Leu) c.73A>C (p.Ile25Leu) c.2674A>C (p.Ile892Leu) | |
1 | g.209618496G>A | CA423029975 | LAMB3 | c.2865C>T (p.Asp955=) c.72C>T (p.Asp24=) c.2673C>T (p.Asp891=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618496G>C | CA344585035 | LAMB3 | c.2865C>G (p.Asp955Glu) c.72C>G (p.Asp24Glu) c.2673C>G (p.Asp891Glu) | |
1 | g.209618496G= | CA2484296273 | LAMB3 | c.2865C= (p.Asp955=) c.72C= (p.Asp24=) c.2673C= (p.Asp891=) | |
1 | g.209618496G>T | CA344585036 | LAMB3 | c.2865C>A (p.Asp955Glu) c.72C>A (p.Asp24Glu) c.2673C>A (p.Asp891Glu) | |
1 | g.209618497T>A | CA36750142 | LAMB3 | c.2864A>T (p.Asp955Val) c.71A>T (p.Asp24Val) c.2672A>T (p.Asp891Val) | dbSNP |
1 | g.209618497T>C | CA344585037 | LAMB3 | c.2864A>G (p.Asp955Gly) c.71A>G (p.Asp24Gly) c.2672A>G (p.Asp891Gly) | |
1 | g.209618497T>G | CA344585038 | LAMB3 | c.2864A>C (p.Asp955Ala) c.71A>C (p.Asp24Ala) c.2672A>C (p.Asp891Ala) | |
1 | g.209618497T= | CA1143369063 | LAMB3 | c.2864A= (p.Asp955=) c.71A= (p.Asp24=) c.2672A= (p.Asp891=) | |
1 | g.209618498C>A | CA344585039 | LAMB3 | c.2863G>T (p.Asp955Tyr) c.70G>T (p.Asp24Tyr) c.2671G>T (p.Asp891Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618498C= | CA2484296274 | LAMB3 | c.2863G= (p.Asp955=) c.70G= (p.Asp24=) c.2671G= (p.Asp891=) | |
1 | g.209618498C>G | CA344585040 | LAMB3 | c.2863G>C (p.Asp955His) c.70G>C (p.Asp24His) c.2671G>C (p.Asp891His) | |
1 | g.209618498C>T | CA36750146 | LAMB3 | c.2863G>A (p.Asp955Asn) c.70G>A (p.Asp24Asn) c.2671G>A (p.Asp891Asn) | dbSNP |
1 | g.209618499C>A | CA344585042 | LAMB3 | c.2862G>T (p.Gln954His) c.69G>T (p.Gln23His) c.2670G>T (p.Gln890His) | gnomAD v4 |
1 | g.209618499C>G | CA344585041 | LAMB3 | c.2862G>C (p.Gln954His) c.69G>C (p.Gln23His) c.2670G>C (p.Gln890His) | gnomAD v4 |
1 | g.209618499C>T | CA423029977 | LAMB3 | c.2862G>A (p.Gln954=) c.69G>A (p.Gln23=) c.2670G>A (p.Gln890=) | |
1 | g.209618499_209618500delinsCT | CA2484296275 | LAMB3 | c.2861_2862delinsAG (p.Gln954=) c.68_69delinsAG (p.Gln23=) c.2669_2670delinsAG (p.Gln890=) | |
1 | g.209618500del | CA36750149 | LAMB3 | c.2861del (p.Gln954ArgfsTer?) c.68del (p.Gln23ArgfsTer?) c.2669del (p.Gln890ArgfsTer?) | dbSNP gnomAD v4 |
1 | g.209618500T>A | CA344585043 | LAMB3 | c.2861A>T (p.Gln954Leu) c.68A>T (p.Gln23Leu) c.2669A>T (p.Gln890Leu) | |
1 | g.209618500T>C | CA344585044 | LAMB3 | c.2861A>G (p.Gln954Arg) c.68A>G (p.Gln23Arg) c.2669A>G (p.Gln890Arg) | |
1 | g.209618500T>G | CA344585045 | LAMB3 | c.2861A>C (p.Gln954Pro) c.68A>C (p.Gln23Pro) c.2669A>C (p.Gln890Pro) | |
1 | g.209618501G>A | CA344585046 | LAMB3 | c.2860C>T (p.Gln954Ter) c.67C>T (p.Gln23Ter) c.2668C>T (p.Gln890Ter) | gnomAD v4 |
1 | g.209618501G>C | CA344585047 | LAMB3 | c.2860C>G (p.Gln954Glu) c.67C>G (p.Gln23Glu) c.2668C>G (p.Gln890Glu) | gnomAD v4 |
1 | g.209618501G>T | CA344585048 | LAMB3 | c.2860C>A (p.Gln954Lys) c.67C>A (p.Gln23Lys) c.2668C>A (p.Gln890Lys) | |
1 | g.209618502C>A | CA344585049 | LAMB3 | c.2859G>T (p.Lys953Asn) c.66G>T (p.Lys22Asn) c.2667G>T (p.Lys889Asn) | |
1 | g.209618502C>G | CA344585050 | LAMB3 | c.2859G>C (p.Lys953Asn) c.66G>C (p.Lys22Asn) c.2667G>C (p.Lys889Asn) | |
1 | g.209618502C>T | CA423029983 | LAMB3 | c.2859G>A (p.Lys953=) c.66G>A (p.Lys22=) c.2667G>A (p.Lys889=) | |
1 | g.209618503T>A | CA344585051 | LAMB3 | c.2858A>T (p.Lys953Met) c.65A>T (p.Lys22Met) c.2666A>T (p.Lys889Met) | |
1 | g.209618503T>C | CA344585052 | LAMB3 | c.2858A>G (p.Lys953Arg) c.65A>G (p.Lys22Arg) c.2666A>G (p.Lys889Arg) | |
1 | g.209618503T>G | CA344585053 | LAMB3 | c.2858A>C (p.Lys953Thr) c.65A>C (p.Lys22Thr) c.2666A>C (p.Lys889Thr) | |
1 | g.209618504T>A | CA344585054 | LAMB3 | c.2857A>T (p.Lys953Ter) c.64A>T (p.Lys22Ter) c.2665A>T (p.Lys889Ter) | |
1 | g.209618504T>C | CA344585055 | LAMB3 | c.2857A>G (p.Lys953Glu) c.64A>G (p.Lys22Glu) c.2665A>G (p.Lys889Glu) | |
1 | g.209618504T>G | CA344585056 | LAMB3 | c.2857A>C (p.Lys953Gln) c.64A>C (p.Lys22Gln) c.2665A>C (p.Lys889Gln) | |
1 | g.209618505G>A | CA423029987 | LAMB3 | c.2856C>T (p.Thr952=) c.63C>T (p.Thr21=) c.2664C>T (p.Thr888=) | |
1 | g.209618505G>C | CA423029989 | LAMB3 | c.2856C>G (p.Thr952=) c.63C>G (p.Thr21=) c.2664C>G (p.Thr888=) | |
1 | g.209618505G>T | CA423029992 | LAMB3 | c.2856C>A (p.Thr952=) c.63C>A (p.Thr21=) c.2664C>A (p.Thr888=) | gnomAD v4 |
1 | g.209618505_209618506delinsAA | CA645532773 | LAMB3 | c.2855_2856delinsTT (p.Thr952Ile) c.62_63delinsTT (p.Thr21Ile) c.2663_2664delinsTT (p.Thr888Ile) | COSMIC |
1 | g.209618506G>A | CA344585058 | LAMB3 | c.2855C>T (p.Thr952Ile) c.62C>T (p.Thr21Ile) c.2663C>T (p.Thr888Ile) | |
1 | g.209618506G>C | CA344585057 | LAMB3 | c.2855C>G (p.Thr952Ser) c.62C>G (p.Thr21Ser) c.2663C>G (p.Thr888Ser) | gnomAD v4 |
1 | g.209618506G= | CA2484296276 | LAMB3 | c.2855C= (p.Thr952=) c.62C= (p.Thr21=) c.2663C= (p.Thr888=) | |
1 | g.209618506G>T | CA1375080 | LAMB3 | c.2855C>A (p.Thr952Asn) c.62C>A (p.Thr21Asn) c.2663C>A (p.Thr888Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209618507T>A | CA344585059 | LAMB3 | c.2854A>T (p.Thr952Ser) c.61A>T (p.Thr21Ser) c.2662A>T (p.Thr888Ser) | |
1 | g.209618507T>C | CA344585060 | LAMB3 | c.2854A>G (p.Thr952Ala) c.61A>G (p.Thr21Ala) c.2662A>G (p.Thr888Ala) | dbSNP |
1 | g.209618507T>G | CA344585061 | LAMB3 | c.2854A>C (p.Thr952Pro) c.61A>C (p.Thr21Pro) c.2662A>C (p.Thr888Pro) | dbSNP gnomAD v4 |
1 | g.209618507T= | CA2484296277 | LAMB3 | c.2854A= (p.Thr952=) c.61A= (p.Thr21=) c.2662A= (p.Thr888=) | |
1 | g.209618508C>A | CA344585062 | LAMB3 | c.2853G>T (p.Gln951His) c.60G>T (p.Gln20His) c.2661G>T (p.Gln887His) | |
1 | g.209618508C>G | CA344585063 | LAMB3 | c.2853G>C (p.Gln951His) c.60G>C (p.Gln20His) c.2661G>C (p.Gln887His) | |
1 | g.209618508C>T | CA423029999 | LAMB3 | c.2853G>A (p.Gln951=) c.60G>A (p.Gln20=) c.2661G>A (p.Gln887=) | |
1 | g.209618509T>A | CA344585064 | LAMB3 | c.2852A>T (p.Gln951Leu) c.59A>T (p.Gln20Leu) c.2660A>T (p.Gln887Leu) | dbSNP |
1 | g.209618509T>C | CA344585065 | LAMB3 | c.2852A>G (p.Gln951Arg) c.59A>G (p.Gln20Arg) c.2660A>G (p.Gln887Arg) | |
1 | g.209618509T>G | CA344585066 | LAMB3 | c.2852A>C (p.Gln951Pro) c.59A>C (p.Gln20Pro) c.2660A>C (p.Gln887Pro) | |
1 | g.209618509T= | CA2484296278 | LAMB3 | c.2852A= (p.Gln951=) c.59A= (p.Gln20=) c.2660A= (p.Gln887=) | |
1 | g.209618510G>A | CA344585067 | LAMB3 | c.2851C>T (p.Gln951Ter) c.58C>T (p.Gln20Ter) c.2659C>T (p.Gln887Ter) | |
1 | g.209618510G>C | CA344585068 | LAMB3 | c.2851C>G (p.Gln951Glu) c.58C>G (p.Gln20Glu) c.2659C>G (p.Gln887Glu) | |
1 | g.209618510G>T | CA344585069 | LAMB3 | c.2851C>A (p.Gln951Lys) c.58C>A (p.Gln20Lys) c.2659C>A (p.Gln887Lys) | |
1 | g.209618511G>A | CA423030005 | LAMB3 | c.2850C>T (p.Ser950=) c.57C>T (p.Ser19=) c.2658C>T (p.Ser886=) | |
1 | g.209618511G>C | CA423030006 | LAMB3 | c.2850C>G (p.Ser950=) c.57C>G (p.Ser19=) c.2658C>G (p.Ser886=) | |
1 | g.209618511G>T | CA423030007 | LAMB3 | c.2850C>A (p.Ser950=) c.57C>A (p.Ser19=) c.2658C>A (p.Ser886=) | |
1 | g.209618512G>A | CA344585072 | LAMB3 | c.2849C>T (p.Ser950Phe) c.56C>T (p.Ser19Phe) c.2657C>T (p.Ser886Phe) | |
1 | g.209618512G>C | CA344585071 | LAMB3 | c.2849C>G (p.Ser950Cys) c.56C>G (p.Ser19Cys) c.2657C>G (p.Ser886Cys) | gnomAD v4 |
1 | g.209618512G>T | CA344585070 | LAMB3 | c.2849C>A (p.Ser950Tyr) c.56C>A (p.Ser19Tyr) c.2657C>A (p.Ser886Tyr) | |
1 | g.209618513A>C | CA344585073 | LAMB3 | c.2848T>G (p.Ser950Ala) c.55T>G (p.Ser19Ala) c.2656T>G (p.Ser886Ala) | |
1 | g.209618513A>G | CA344585074 | LAMB3 | c.2848T>C (p.Ser950Pro) c.55T>C (p.Ser19Pro) c.2656T>C (p.Ser886Pro) | |
1 | g.209618513A>T | CA344585075 | LAMB3 | c.2848T>A (p.Ser950Thr) c.55T>A (p.Ser19Thr) c.2656T>A (p.Ser886Thr) | |
1 | g.209618514C>A | CA423030013 | LAMB3 | c.2847G>T (p.Leu949=) c.54G>T (p.Leu18=) c.2655G>T (p.Leu885=) | |
1 | g.209618514C>G | CA423030014 | LAMB3 | c.2847G>C (p.Leu949=) c.54G>C (p.Leu18=) c.2655G>C (p.Leu885=) | |
1 | g.209618514C>T | CA423030015 | LAMB3 | c.2847G>A (p.Leu949=) c.54G>A (p.Leu18=) c.2655G>A (p.Leu885=) | |
1 | g.209618515A>C | CA344585076 | LAMB3 | c.2846T>G (p.Leu949Arg) c.53T>G (p.Leu18Arg) c.2654T>G (p.Leu885Arg) | |
1 | g.209618515A>G | CA344585077 | LAMB3 | c.2846T>C (p.Leu949Pro) c.53T>C (p.Leu18Pro) c.2654T>C (p.Leu885Pro) | gnomAD v4 |
1 | g.209618515A>T | CA344585078 | LAMB3 | c.2846T>A (p.Leu949Gln) c.53T>A (p.Leu18Gln) c.2654T>A (p.Leu885Gln) | |
1 | g.209618516G>A | CA423030018 | LAMB3 | c.2845C>T (p.Leu949=) c.52C>T (p.Leu18=) c.2653C>T (p.Leu885=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618516G>C | CA344585079 | LAMB3 | c.2845C>G (p.Leu949Val) c.52C>G (p.Leu18Val) c.2653C>G (p.Leu885Val) | |
1 | g.209618516G= | CA2484296279 | LAMB3 | c.2845C= (p.Leu949=) c.52C= (p.Leu18=) c.2653C= (p.Leu885=) | |
1 | g.209618516G>T | CA344585080 | LAMB3 | c.2845C>A (p.Leu949Met) c.52C>A (p.Leu18Met) c.2653C>A (p.Leu885Met) | |
1 | g.209618517C>A | CA423030023 | LAMB3 | c.2844G>T (p.Val948=) c.51G>T (p.Val17=) c.2652G>T (p.Val884=) | |
1 | g.209618517C>G | CA423030021 | LAMB3 | c.2844G>C (p.Val948=) c.51G>C (p.Val17=) c.2652G>C (p.Val884=) | |
1 | g.209618517C>T | CA423030020 | LAMB3 | c.2844G>A (p.Val948=) c.51G>A (p.Val17=) c.2652G>A (p.Val884=) | |
1 | g.209618518A>C | CA344585081 | LAMB3 | c.2843T>G (p.Val948Gly) c.50T>G (p.Val17Gly) c.2651T>G (p.Val884Gly) | |
1 | g.209618518A>G | CA344585082 | LAMB3 | c.2843T>C (p.Val948Ala) c.50T>C (p.Val17Ala) c.2651T>C (p.Val884Ala) | |
1 | g.209618518A>T | CA344585083 | LAMB3 | c.2843T>A (p.Val948Glu) c.50T>A (p.Val17Glu) c.2651T>A (p.Val884Glu) | |
1 | g.209618518_209618519delinsAC | CA2484296280 | LAMB3 | c.2842_2843delinsGT (p.Val948=) c.49_50delinsGT (p.Val17=) c.2650_2651delinsGT (p.Val884=) | |
1 | g.209618519C>A | CA344585085 | LAMB3 | c.2842G>T (p.Val948Leu) c.49G>T (p.Val17Leu) c.2650G>T (p.Val884Leu) | |
1 | g.209618519C= | CA2484296281 | LAMB3 | c.2842G= (p.Val948=) c.49G= (p.Val17=) c.2650G= (p.Val884=) | |
1 | g.209618519C>G | CA344585084 | LAMB3 | c.2842G>C (p.Val948Leu) c.49G>C (p.Val17Leu) c.2650G>C (p.Val884Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618519C>T | CA344585086 | LAMB3 | c.2842G>A (p.Val948Met) c.49G>A (p.Val17Met) c.2650G>A (p.Val884Met) | gnomAD v4 |
1 | g.209618520del | CA1375081 | LAMB3 | c.2842del (p.Val948CysfsTer?) c.49del (p.Val17CysfsTer?) c.2650del (p.Val884CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618520C>A | CA344585087 | LAMB3 | c.2841G>T (p.Leu947Phe) c.48G>T (p.Leu16Phe) c.2649G>T (p.Leu883Phe) | |
1 | g.209618520C= | CA1141986146 | LAMB3 | c.2841G= (p.Leu947=) c.48G= (p.Leu16=) c.2649G= (p.Leu883=) | |
1 | g.209618520C>G | CA344585088 | LAMB3 | c.2841G>C (p.Leu947Phe) c.48G>C (p.Leu16Phe) c.2649G>C (p.Leu883Phe) | |
1 | g.209618520C>T | CA1375082 | LAMB3 | c.2841G>A (p.Leu947=) c.48G>A (p.Leu16=) c.2649G>A (p.Leu883=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209618521A>C | CA344585091 | LAMB3 | c.2840T>G (p.Leu947Trp) c.47T>G (p.Leu16Trp) c.2648T>G (p.Leu883Trp) | |
1 | g.209618521A>G | CA344585090 | LAMB3 | c.2840T>C (p.Leu947Ser) c.47T>C (p.Leu16Ser) c.2648T>C (p.Leu883Ser) | gnomAD v4 |
1 | g.209618521A>T | CA344585089 | LAMB3 | c.2840T>A (p.Leu947Ter) c.47T>A (p.Leu16Ter) c.2648T>A (p.Leu883Ter) | |
1 | g.209618522A>C | CA344585092 | LAMB3 | c.2839T>G (p.Leu947Val) c.46T>G (p.Leu16Val) c.2647T>G (p.Leu883Val) | |
1 | g.209618522A>G | CA423030030 | LAMB3 | c.2839T>C (p.Leu947=) c.46T>C (p.Leu16=) c.2647T>C (p.Leu883=) | |
1 | g.209618522A>T | CA344585093 | LAMB3 | c.2839T>A (p.Leu947Met) c.46T>A (p.Leu16Met) c.2647T>A (p.Leu883Met) | |
1 | g.209618523G>A | CA423030031 | LAMB3 | c.2838C>T (p.Asp946=) c.45C>T (p.Asp15=) c.2646C>T (p.Asp882=) | |
1 | g.209618523G>C | CA344585094 | LAMB3 | c.2838C>G (p.Asp946Glu) c.45C>G (p.Asp15Glu) c.2646C>G (p.Asp882Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209618523G= | CA2484296282 | LAMB3 | c.2838C= (p.Asp946=) c.45C= (p.Asp15=) c.2646C= (p.Asp882=) | |
1 | g.209618523G>T | CA344585095 | LAMB3 | c.2838C>A (p.Asp946Glu) c.45C>A (p.Asp15Glu) c.2646C>A (p.Asp882Glu) | |
1 | g.209618524T>A | CA344585096 | LAMB3 | c.2837A>T (p.Asp946Val) c.44A>T (p.Asp15Val) c.2645A>T (p.Asp882Val) | |
1 | g.209618524T>C | CA344585097 | LAMB3 | c.2837A>G (p.Asp946Gly) c.44A>G (p.Asp15Gly) c.2645A>G (p.Asp882Gly) | |
1 | g.209618524T>G | CA344585098 | LAMB3 | c.2837A>C (p.Asp946Ala) c.44A>C (p.Asp15Ala) c.2645A>C (p.Asp882Ala) | |
1 | g.209618525C>A | CA344585101 | LAMB3 | c.2836G>T (p.Asp946Tyr) c.43G>T (p.Asp15Tyr) c.2644G>T (p.Asp882Tyr) | |
1 | g.209618525C>G | CA344585100 | LAMB3 | c.2836G>C (p.Asp946His) c.43G>C (p.Asp15His) c.2644G>C (p.Asp882His) | |
1 | g.209618525C>T | CA344585099 | LAMB3 | c.2836G>A (p.Asp946Asn) c.43G>A (p.Asp15Asn) c.2644G>A (p.Asp882Asn) | COSMIC |
1 | g.209618526C>A | CA423030037 | LAMB3 | c.2835G>T (p.Val945=) c.42G>T (p.Val14=) c.2643G>T (p.Val881=) | |
1 | g.209618526C>G | CA423030038 | LAMB3 | c.2835G>C (p.Val945=) c.42G>C (p.Val14=) c.2643G>C (p.Val881=) | |
1 | g.209618526C>T | CA423030039 | LAMB3 | c.2835G>A (p.Val945=) c.42G>A (p.Val14=) c.2643G>A (p.Val881=) | |
1 | g.209618527A>C | CA344585103 | LAMB3 | c.2834T>G (p.Val945Gly) c.41T>G (p.Val14Gly) c.2642T>G (p.Val881Gly) | |
1 | g.209618527A>G | CA344585102 | LAMB3 | c.2834T>C (p.Val945Ala) c.41T>C (p.Val14Ala) c.2642T>C (p.Val881Ala) | |
1 | g.209618527A>T | CA344585104 | LAMB3 | c.2834T>A (p.Val945Glu) c.41T>A (p.Val14Glu) c.2642T>A (p.Val881Glu) |