Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617419A>C | CA344583564 | LAMB3 | c.3219T>G (p.Ser1073Arg) c.426T>G (p.Ser142Arg) c.3027T>G (p.Ser1009Arg) | |
1 | g.209617419A>G | CA423029329 | LAMB3 | c.3219T>C (p.Ser1073=) c.426T>C (p.Ser142=) c.3027T>C (p.Ser1009=) | |
1 | g.209617419A>T | CA344583566 | LAMB3 | c.3219T>A (p.Ser1073Arg) c.426T>A (p.Ser142Arg) c.3027T>A (p.Ser1009Arg) | |
1 | g.209617420C>A | CA344583569 | LAMB3 | c.3218G>T (p.Ser1073Ile) c.425G>T (p.Ser142Ile) c.3026G>T (p.Ser1009Ile) | |
1 | g.209617420C= | CA2484295849 | LAMB3 | c.3218G= (p.Ser1073=) c.425G= (p.Ser142=) c.3026G= (p.Ser1009=) | |
1 | g.209617420C>G | CA344583571 | LAMB3 | c.3218G>C (p.Ser1073Thr) c.425G>C (p.Ser142Thr) c.3026G>C (p.Ser1009Thr) | |
1 | g.209617420C>T | CA1374948 | LAMB3 | c.3218G>A (p.Ser1073Asn) c.425G>A (p.Ser142Asn) c.3026G>A (p.Ser1009Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617421T>A | CA344583577 | LAMB3 | c.3217A>T (p.Ser1073Cys) c.424A>T (p.Ser142Cys) c.3025A>T (p.Ser1009Cys) | |
1 | g.209617421T>C | CA344583578 | LAMB3 | c.3217A>G (p.Ser1073Gly) c.424A>G (p.Ser142Gly) c.3025A>G (p.Ser1009Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617421T>G | CA344583582 | LAMB3 | c.3217A>C (p.Ser1073Arg) c.424A>C (p.Ser142Arg) c.3025A>C (p.Ser1009Arg) | |
1 | g.209617421T= | CA2484295850 | LAMB3 | c.3217A= (p.Ser1073=) c.424A= (p.Ser142=) c.3025A= (p.Ser1009=) | |
1 | g.209617422C>A | CA344583586 | LAMB3 | c.3216G>T (p.Leu1072Phe) c.423G>T (p.Leu141Phe) c.3024G>T (p.Leu1008Phe) | |
1 | g.209617422C>G | CA344583589 | LAMB3 | c.3216G>C (p.Leu1072Phe) c.423G>C (p.Leu141Phe) c.3024G>C (p.Leu1008Phe) | |
1 | g.209617422C>T | CA423029334 | LAMB3 | c.3216G>A (p.Leu1072=) c.423G>A (p.Leu141=) c.3024G>A (p.Leu1008=) | gnomAD v4 |
1 | g.209617423A= | CA2484295851 | LAMB3 | c.3215T= (p.Leu1072=) c.422T= (p.Leu141=) c.3023T= (p.Leu1008=) | |
1 | g.209617423A>C | CA344583593 | LAMB3 | c.3215T>G (p.Leu1072Trp) c.422T>G (p.Leu141Trp) c.3023T>G (p.Leu1008Trp) | |
1 | g.209617423A>G | CA344583596 | LAMB3 | c.3215T>C (p.Leu1072Ser) c.422T>C (p.Leu141Ser) c.3023T>C (p.Leu1008Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617423A>T | CA344583601 | LAMB3 | c.3215T>A (p.Leu1072Ter) c.422T>A (p.Leu141Ter) c.3023T>A (p.Leu1008Ter) | |
1 | g.209617424A= | CA2484295852 | LAMB3 | c.3214T= (p.Leu1072=) c.421T= (p.Leu141=) c.3022T= (p.Leu1008=) | |
1 | g.209617424A>C | CA344583608 | LAMB3 | c.3214T>G (p.Leu1072Val) c.421T>G (p.Leu141Val) c.3022T>G (p.Leu1008Val) | |
1 | g.209617424A>G | CA423029339 | LAMB3 | c.3214T>C (p.Leu1072=) c.421T>C (p.Leu141=) c.3022T>C (p.Leu1008=) | gnomAD v2 gnomAD v4 |
1 | g.209617424A>T | CA344583605 | LAMB3 | c.3214T>A (p.Leu1072Met) c.421T>A (p.Leu141Met) c.3022T>A (p.Leu1008Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617424_209617428delinsATGCC | CA2484295853 | LAMB3 | c.3210_3214delinsGGCAT (p.Gln1070=) c.417_421delinsGGCAT (p.Gln139=) c.3018_3022delinsGGCAT (p.Gln1006=) | |
1 | g.209617425T>A | CA423029341 | LAMB3 | c.3213A>T (p.Ala1071=) c.420A>T (p.Ala140=) c.3021A>T (p.Ala1007=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617425T>C | CA423029343 | LAMB3 | c.3213A>G (p.Ala1071=) c.420A>G (p.Ala140=) c.3021A>G (p.Ala1007=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617425T>G | CA423029344 | LAMB3 | c.3213A>C (p.Ala1071=) c.420A>C (p.Ala140=) c.3021A>C (p.Ala1007=) | gnomAD v4 |
1 | g.209617425T= | CA2484295854 | LAMB3 | c.3213A= (p.Ala1071=) c.420A= (p.Ala140=) c.3021A= (p.Ala1007=) | |
1 | g.209617428_209617431del | CA529000141 | LAMB3 | c.3210_3213del (p.Gln1070HisfsTer2) c.417_420del (p.Gln139HisfsTer2) c.3018_3021del (p.Gln1006HisfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617426G>A | CA344583613 | LAMB3 | c.3212C>T (p.Ala1071Val) c.419C>T (p.Ala140Val) c.3020C>T (p.Ala1007Val) | gnomAD v4 |
1 | g.209617426G>C | CA344583617 | LAMB3 | c.3212C>G (p.Ala1071Gly) c.419C>G (p.Ala140Gly) c.3020C>G (p.Ala1007Gly) | |
1 | g.209617426G= | CA2484295855 | LAMB3 | c.3212C= (p.Ala1071=) c.419C= (p.Ala140=) c.3020C= (p.Ala1007=) | |
1 | g.209617426G>T | CA1374949 | LAMB3 | c.3212C>A (p.Ala1071Glu) c.419C>A (p.Ala140Glu) c.3020C>A (p.Ala1007Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617427C>A | CA344583619 | LAMB3 | c.3211G>T (p.Ala1071Ser) c.418G>T (p.Ala140Ser) c.3019G>T (p.Ala1007Ser) | |
1 | g.209617427C= | CA1148301184 | LAMB3 | c.3211G= (p.Ala1071=) c.418G= (p.Ala140=) c.3019G= (p.Ala1007=) | |
1 | g.209617427C>G | CA1374950 | LAMB3 | c.3211G>C (p.Ala1071Pro) c.418G>C (p.Ala140Pro) c.3019G>C (p.Ala1007Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617427C>T | CA10608965 | LAMB3 | c.3211G>A (p.Ala1071Thr) c.418G>A (p.Ala140Thr) c.3019G>A (p.Ala1007Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.209617428C>A | CA344583621 | LAMB3 | c.3210G>T (p.Gln1070His) c.417G>T (p.Gln139His) c.3018G>T (p.Gln1006His) | |
1 | g.209617428C= | CA2484295856 | LAMB3 | c.3210G= (p.Gln1070=) c.417G= (p.Gln139=) c.3018G= (p.Gln1006=) | |
1 | g.209617428C>G | CA344583624 | LAMB3 | c.3210G>C (p.Gln1070His) c.417G>C (p.Gln139His) c.3018G>C (p.Gln1006His) | |
1 | g.209617428C>T | CA423029352 | LAMB3 | c.3210G>A (p.Gln1070=) c.417G>A (p.Gln139=) c.3018G>A (p.Gln1006=) | dbSNP |
1 | g.209617429T>A | CA344583627 | LAMB3 | c.3209A>T (p.Gln1070Leu) c.416A>T (p.Gln139Leu) c.3017A>T (p.Gln1006Leu) | |
1 | g.209617429T>C | CA344583629 | LAMB3 | c.3209A>G (p.Gln1070Arg) c.416A>G (p.Gln139Arg) c.3017A>G (p.Gln1006Arg) | |
1 | g.209617429T>G | CA344583630 | LAMB3 | c.3209A>C (p.Gln1070Pro) c.416A>C (p.Gln139Pro) c.3017A>C (p.Gln1006Pro) | |
1 | g.209617430G>A | CA344583631 | LAMB3 | c.3208C>T (p.Gln1070Ter) c.415C>T (p.Gln139Ter) c.3016C>T (p.Gln1006Ter) | |
1 | g.209617430G>C | CA344583633 | LAMB3 | c.3208C>G (p.Gln1070Glu) c.415C>G (p.Gln139Glu) c.3016C>G (p.Gln1006Glu) | |
1 | g.209617430G>T | CA344583635 | LAMB3 | c.3208C>A (p.Gln1070Lys) c.415C>A (p.Gln139Lys) c.3016C>A (p.Gln1006Lys) | |
1 | g.209617431C>A | CA1374951 | LAMB3 | c.3207G>T (p.Glu1069Asp) c.414G>T (p.Glu138Asp) c.3015G>T (p.Glu1005Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617431C= | CA2484295857 | LAMB3 | c.3207G= (p.Glu1069=) c.414G= (p.Glu138=) c.3015G= (p.Glu1005=) | |
1 | g.209617431C>G | CA344583638 | LAMB3 | c.3207G>C (p.Glu1069Asp) c.414G>C (p.Glu138Asp) c.3015G>C (p.Glu1005Asp) | |
1 | g.209617431C>T | CA423029360 | LAMB3 | c.3207G>A (p.Glu1069=) c.414G>A (p.Glu138=) c.3015G>A (p.Glu1005=) | gnomAD v4 |