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.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) | 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 |