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 |
1 | g.209617432T>A | CA344583642 | LAMB3 | c.3206A>T (p.Glu1069Val) c.413A>T (p.Glu138Val) c.3014A>T (p.Glu1005Val) | |
1 | g.209617432T>C | CA344583645 | LAMB3 | c.3206A>G (p.Glu1069Gly) c.413A>G (p.Glu138Gly) c.3014A>G (p.Glu1005Gly) | gnomAD v4 |
1 | g.209617432T>G | CA344583647 | LAMB3 | c.3206A>C (p.Glu1069Ala) c.413A>C (p.Glu138Ala) c.3014A>C (p.Glu1005Ala) | |
1 | g.209617433C>A | CA344583649 | LAMB3 | c.3205G>T (p.Glu1069Ter) c.412G>T (p.Glu138Ter) c.3013G>T (p.Glu1005Ter) | |
1 | g.209617433C= | CA2484295858 | LAMB3 | c.3205G= (p.Glu1069=) c.412G= (p.Glu138=) c.3013G= (p.Glu1005=) | |
1 | g.209617433C>G | CA1374953 | LAMB3 | c.3205G>C (p.Glu1069Gln) c.412G>C (p.Glu138Gln) c.3013G>C (p.Glu1005Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617433C>T | CA1374952 | LAMB3 | c.3205G>A (p.Glu1069Lys) c.412G>A (p.Glu138Lys) c.3013G>A (p.Glu1005Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617434G>A | CA1374954 | LAMB3 | c.3204C>T (p.Ser1068=) c.411C>T (p.Ser137=) c.3012C>T (p.Ser1004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617434G>C | CA1374955 | LAMB3 | c.3204C>G (p.Ser1068Arg) c.411C>G (p.Ser137Arg) c.3012C>G (p.Ser1004Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617434G= | CA2484295859 | LAMB3 | c.3204C= (p.Ser1068=) c.411C= (p.Ser137=) c.3012C= (p.Ser1004=) | |
1 | g.209617434G>T | CA344583664 | LAMB3 | c.3204C>A (p.Ser1068Arg) c.411C>A (p.Ser137Arg) c.3012C>A (p.Ser1004Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617435C>A | CA344583669 | LAMB3 | c.3203G>T (p.Ser1068Ile) c.410G>T (p.Ser137Ile) c.3011G>T (p.Ser1004Ile) | |
1 | g.209617435C>G | CA344583671 | LAMB3 | c.3203G>C (p.Ser1068Thr) c.410G>C (p.Ser137Thr) c.3011G>C (p.Ser1004Thr) | |
1 | g.209617435C>T | CA344583679 | LAMB3 | c.3203G>A (p.Ser1068Asn) c.410G>A (p.Ser137Asn) c.3011G>A (p.Ser1004Asn) | |
1 | g.209617436T>A | CA344583687 | LAMB3 | c.3202A>T (p.Ser1068Cys) c.409A>T (p.Ser137Cys) c.3010A>T (p.Ser1004Cys) | |
1 | g.209617436T>C | CA344583690 | LAMB3 | c.3202A>G (p.Ser1068Gly) c.409A>G (p.Ser137Gly) c.3010A>G (p.Ser1004Gly) | |
1 | g.209617436T>G | CA344583684 | LAMB3 | c.3202A>C (p.Ser1068Arg) c.409A>C (p.Ser137Arg) c.3010A>C (p.Ser1004Arg) | |
1 | g.209617437G>A | CA423029371 | LAMB3 | c.3201C>T (p.Ala1067=) c.408C>T (p.Ala136=) c.3009C>T (p.Ala1003=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617437G>C | CA423029373 | LAMB3 | c.3201C>G (p.Ala1067=) c.408C>G (p.Ala136=) c.3009C>G (p.Ala1003=) | |
1 | g.209617437G>T | CA423029372 | LAMB3 | c.3201C>A (p.Ala1067=) c.408C>A (p.Ala136=) c.3009C>A (p.Ala1003=) | |
1 | g.209617438G>A | CA344583693 | LAMB3 | c.3200C>T (p.Ala1067Val) c.407C>T (p.Ala136Val) c.3008C>T (p.Ala1003Val) | |
1 | g.209617438G>C | CA344583695 | LAMB3 | c.3200C>G (p.Ala1067Gly) c.407C>G (p.Ala136Gly) c.3008C>G (p.Ala1003Gly) | |
1 | g.209617438G>T | CA344583704 | LAMB3 | c.3200C>A (p.Ala1067Asp) c.407C>A (p.Ala136Asp) c.3008C>A (p.Ala1003Asp) | gnomAD v4 |
1 | g.209617439C>A | CA344583707 | LAMB3 | c.3199G>T (p.Ala1067Ser) c.406G>T (p.Ala136Ser) c.3007G>T (p.Ala1003Ser) | |
1 | g.209617439C>G | CA344583716 | LAMB3 | c.3199G>C (p.Ala1067Pro) c.406G>C (p.Ala136Pro) c.3007G>C (p.Ala1003Pro) | |
1 | g.209617439C>T | CA344583719 | LAMB3 | c.3199G>A (p.Ala1067Thr) c.406G>A (p.Ala136Thr) c.3007G>A (p.Ala1003Thr) | |
1 | g.209617440A= | CA2484295860 | LAMB3 | c.3198T= (p.Gly1066=) c.405T= (p.Gly135=) c.3006T= (p.Gly1002=) | |
1 | g.209617440A>C | CA423029377 | LAMB3 | c.3198T>G (p.Gly1066=) c.405T>G (p.Gly135=) c.3006T>G (p.Gly1002=) | dbSNP |
1 | g.209617440A>G | CA423029378 | LAMB3 | c.3198T>C (p.Gly1066=) c.405T>C (p.Gly135=) c.3006T>C (p.Gly1002=) | gnomAD v4 |
1 | g.209617440A>T | CA423029379 | LAMB3 | c.3198T>A (p.Gly1066=) c.405T>A (p.Gly135=) c.3006T>A (p.Gly1002=) | |
1 | g.209617441C>A | CA344583732 | LAMB3 | c.3197G>T (p.Gly1066Val) c.404G>T (p.Gly135Val) c.3005G>T (p.Gly1002Val) | gnomAD v4 |
1 | g.209617441C= | CA2484295861 | LAMB3 | c.3197G= (p.Gly1066=) c.404G= (p.Gly135=) c.3005G= (p.Gly1002=) | |
1 | g.209617441C>G | CA344583723 | LAMB3 | c.3197G>C (p.Gly1066Ala) c.404G>C (p.Gly135Ala) c.3005G>C (p.Gly1002Ala) | gnomAD v4 |
1 | g.209617441C>T | CA344583726 | LAMB3 | c.3197G>A (p.Gly1066Asp) c.404G>A (p.Gly135Asp) c.3005G>A (p.Gly1002Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617442C>A | CA344583735 | LAMB3 | c.3196G>T (p.Gly1066Cys) c.403G>T (p.Gly135Cys) c.3004G>T (p.Gly1002Cys) | |
1 | g.209617442C>G | CA344583737 | LAMB3 | c.3196G>C (p.Gly1066Arg) c.403G>C (p.Gly135Arg) c.3004G>C (p.Gly1002Arg) | |
1 | g.209617442C>T | CA344583739 | LAMB3 | c.3196G>A (p.Gly1066Ser) c.403G>A (p.Gly135Ser) c.3004G>A (p.Gly1002Ser) | |
1 | g.209617443T>A | CA344583743 | LAMB3 | c.3195A>T (p.Glu1065Asp) c.402A>T (p.Glu134Asp) c.3003A>T (p.Glu1001Asp) | |
1 | g.209617443T>C | CA423029387 | LAMB3 | c.3195A>G (p.Glu1065=) c.402A>G (p.Glu134=) c.3003A>G (p.Glu1001=) | |
1 | g.209617443T>G | CA344583751 | LAMB3 | c.3195A>C (p.Glu1065Asp) c.402A>C (p.Glu134Asp) c.3003A>C (p.Glu1001Asp) | |
1 | g.209617444T>A | CA344583761 | LAMB3 | c.3194A>T (p.Glu1065Val) c.401A>T (p.Glu134Val) c.3002A>T (p.Glu1001Val) | |
1 | g.209617444T>C | CA344583755 | LAMB3 | c.3194A>G (p.Glu1065Gly) c.401A>G (p.Glu134Gly) c.3002A>G (p.Glu1001Gly) | gnomAD v4 |
1 | g.209617444T>G | CA344583758 | LAMB3 | c.3194A>C (p.Glu1065Ala) c.401A>C (p.Glu134Ala) c.3002A>C (p.Glu1001Ala) | |
1 | g.209617445C>A | CA344583764 | LAMB3 | c.3193G>T (p.Glu1065Ter) c.400G>T (p.Glu134Ter) c.3001G>T (p.Glu1001Ter) | gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617445C= | CA2484295862 | LAMB3 | c.3193G= (p.Glu1065=) c.400G= (p.Glu134=) c.3001G= (p.Glu1001=) | |
1 | g.209617445C>G | CA344583767 | LAMB3 | c.3193G>C (p.Glu1065Gln) c.400G>C (p.Glu134Gln) c.3001G>C (p.Glu1001Gln) | |
1 | g.209617445C>T | CA1374956 | LAMB3 | c.3193G>A (p.Glu1065Lys) c.400G>A (p.Glu134Lys) c.3001G>A (p.Glu1001Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617446C>A | CA423029392 | LAMB3 | c.3192G>T (p.Ala1064=) c.399G>T (p.Ala133=) c.3000G>T (p.Ala1000=) | |
1 | g.209617446C= | CA1141454234 | LAMB3 | c.3192G= (p.Ala1064=) c.399G= (p.Ala133=) c.3000G= (p.Ala1000=) | |
1 | g.209617446C>G | CA423029393 | LAMB3 | c.3192G>C (p.Ala1064=) c.399G>C (p.Ala133=) c.3000G>C (p.Ala1000=) | |
1 | g.209617446C>T | CA1374957 | LAMB3 | c.3192G>A (p.Ala1064=) c.399G>A (p.Ala133=) c.3000G>A (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617447G>A | CA1374958 | LAMB3 | c.3191C>T (p.Ala1064Val) c.398C>T (p.Ala133Val) c.2999C>T (p.Ala1000Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617447G>C | CA344583782 | LAMB3 | c.3191C>G (p.Ala1064Gly) c.398C>G (p.Ala133Gly) c.2999C>G (p.Ala1000Gly) | |
1 | g.209617447G= | CA1143575845 | LAMB3 | c.3191C= (p.Ala1064=) c.398C= (p.Ala133=) c.2999C= (p.Ala1000=) | |
1 | g.209617447G>T | CA344583787 | LAMB3 | c.3191C>A (p.Ala1064Glu) c.398C>A (p.Ala133Glu) c.2999C>A (p.Ala1000Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617447_209617448delinsTA | CA2586967983 | LAMB3 | c.3190_3191delinsTA (p.Ala1064Ter) c.397_398delinsTA (p.Ala133Ter) c.2998_2999delinsTA (p.Ala1000Ter) | ClinVar |
1 | g.209617448C>A | CA344583788 | LAMB3 | c.3190G>T (p.Ala1064Ser) c.397G>T (p.Ala133Ser) c.2998G>T (p.Ala1000Ser) | gnomAD v4 |
1 | g.209617448C>G | CA344583789 | LAMB3 | c.3190G>C (p.Ala1064Pro) c.397G>C (p.Ala133Pro) c.2998G>C (p.Ala1000Pro) | |
1 | g.209617448C>T | CA344583790 | LAMB3 | c.3190G>A (p.Ala1064Thr) c.397G>A (p.Ala133Thr) c.2998G>A (p.Ala1000Thr) | |
1 | g.209617449A>C | CA423029396 | LAMB3 | c.3189T>G (p.Leu1063=) c.396T>G (p.Leu132=) c.2997T>G (p.Leu999=) | |
1 | g.209617449A>G | CA423029398 | LAMB3 | c.3189T>C (p.Leu1063=) c.396T>C (p.Leu132=) c.2997T>C (p.Leu999=) | ClinVar dbSNP |
1 | g.209617449A>T | CA423029399 | LAMB3 | c.3189T>A (p.Leu1063=) c.396T>A (p.Leu132=) c.2997T>A (p.Leu999=) | |
1 | g.209617450A>C | CA344583793 | LAMB3 | c.3188T>G (p.Leu1063Arg) c.395T>G (p.Leu132Arg) c.2996T>G (p.Leu999Arg) | |
1 | g.209617450A>G | CA344583795 | LAMB3 | c.3188T>C (p.Leu1063Pro) c.395T>C (p.Leu132Pro) c.2996T>C (p.Leu999Pro) | |
1 | g.209617450A>T | CA344583796 | LAMB3 | c.3188T>A (p.Leu1063His) c.395T>A (p.Leu132His) c.2996T>A (p.Leu999His) | |
1 | g.209617451G>A | CA344583804 | LAMB3 | c.3187C>T (p.Leu1063Phe) c.394C>T (p.Leu132Phe) c.2995C>T (p.Leu999Phe) | dbSNP gnomAD v2 |
1 | g.209617451G>C | CA344583813 | LAMB3 | c.3187C>G (p.Leu1063Val) c.394C>G (p.Leu132Val) c.2995C>G (p.Leu999Val) | |
1 | g.209617451G= | CA2484295863 | LAMB3 | c.3187C= (p.Leu1063=) c.394C= (p.Leu132=) c.2995C= (p.Leu999=) | |
1 | g.209617451G>T | CA344583811 | LAMB3 | c.3187C>A (p.Leu1063Ile) c.394C>A (p.Leu132Ile) c.2995C>A (p.Leu999Ile) | |
1 | g.209617452C>A | CA344583816 | LAMB3 | c.3186G>T (p.Gln1062His) c.393G>T (p.Gln131His) c.2994G>T (p.Gln998His) | |
1 | g.209617452C>G | CA344583819 | LAMB3 | c.3186G>C (p.Gln1062His) c.393G>C (p.Gln131His) c.2994G>C (p.Gln998His) | |
1 | g.209617452C>T | CA423029404 | LAMB3 | c.3186G>A (p.Gln1062=) c.393G>A (p.Gln131=) c.2994G>A (p.Gln998=) | |
1 | g.209617453T>A | CA344583823 | LAMB3 | c.3185A>T (p.Gln1062Leu) c.392A>T (p.Gln131Leu) c.2993A>T (p.Gln998Leu) | |
1 | g.209617453T>C | CA344583828 | LAMB3 | c.3185A>G (p.Gln1062Arg) c.392A>G (p.Gln131Arg) c.2993A>G (p.Gln998Arg) | |
1 | g.209617453T>G | CA344583829 | LAMB3 | c.3185A>C (p.Gln1062Pro) c.392A>C (p.Gln131Pro) c.2993A>C (p.Gln998Pro) | gnomAD v4 |
1 | g.209617454G>A | CA344583831 | LAMB3 | c.3184C>T (p.Gln1062Ter) c.391C>T (p.Gln131Ter) c.2992C>T (p.Gln998Ter) | |
1 | g.209617454G>C | CA344583832 | LAMB3 | c.3184C>G (p.Gln1062Glu) c.391C>G (p.Gln131Glu) c.2992C>G (p.Gln998Glu) | gnomAD v4 |
1 | g.209617454G= | CA2484295864 | LAMB3 | c.3184C= (p.Gln1062=) c.391C= (p.Gln131=) c.2992C= (p.Gln998=) | |
1 | g.209617454G>T | CA344583834 | LAMB3 | c.3184C>A (p.Gln1062Lys) c.391C>A (p.Gln131Lys) c.2992C>A (p.Gln998Lys) | dbSNP gnomAD v2 |
1 | g.209617455C>A | CA344583838 | LAMB3 | c.3183G>T (p.Gln1061His) c.390G>T (p.Gln130His) c.2991G>T (p.Gln997His) | |
1 | g.209617455C>G | CA344583846 | LAMB3 | c.3183G>C (p.Gln1061His) c.390G>C (p.Gln130His) c.2991G>C (p.Gln997His) | |
1 | g.209617455C>T | CA423029411 | LAMB3 | c.3183G>A (p.Gln1061=) c.390G>A (p.Gln130=) c.2991G>A (p.Gln997=) | |
1 | g.209617456T>A | CA344583850 | LAMB3 | c.3182A>T (p.Gln1061Leu) c.389A>T (p.Gln130Leu) c.2990A>T (p.Gln997Leu) | |
1 | g.209617456T>C | CA344583853 | LAMB3 | c.3182A>G (p.Gln1061Arg) c.389A>G (p.Gln130Arg) c.2990A>G (p.Gln997Arg) | gnomAD v4 |
1 | g.209617456T>G | CA344583857 | LAMB3 | c.3182A>C (p.Gln1061Pro) c.389A>C (p.Gln130Pro) c.2990A>C (p.Gln997Pro) | |
1 | g.209617457G>A | CA344583864 | LAMB3 | c.3181C>T (p.Gln1061Ter) c.388C>T (p.Gln130Ter) c.2989C>T (p.Gln997Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617457G>C | CA344583861 | LAMB3 | c.3181C>G (p.Gln1061Glu) c.388C>G (p.Gln130Glu) c.2989C>G (p.Gln997Glu) | |
1 | g.209617457G= | CA2484295865 | LAMB3 | c.3181C= (p.Gln1061=) c.388C= (p.Gln130=) c.2989C= (p.Gln997=) | |
1 | g.209617457G>T | CA344583862 | LAMB3 | c.3181C>A (p.Gln1061Lys) c.388C>A (p.Gln130Lys) c.2989C>A (p.Gln997Lys) | |
1 | g.209617458G>A | CA423029418 | LAMB3 | c.3180C>T (p.Ala1060=) c.387C>T (p.Ala129=) c.2988C>T (p.Ala996=) | gnomAD v4 |
1 | g.209617458G>C | CA423029420 | LAMB3 | c.3180C>G (p.Ala1060=) c.387C>G (p.Ala129=) c.2988C>G (p.Ala996=) | |
1 | g.209617458G>T | CA423029419 | LAMB3 | c.3180C>A (p.Ala1060=) c.387C>A (p.Ala129=) c.2988C>A (p.Ala996=) | ClinVar |
1 | g.209617459G>A | CA344583866 | LAMB3 | c.3179C>T (p.Ala1060Val) c.386C>T (p.Ala129Val) c.2987C>T (p.Ala996Val) | |
1 | g.209617459G>C | CA344583867 | LAMB3 | c.3179C>G (p.Ala1060Gly) c.386C>G (p.Ala129Gly) c.2987C>G (p.Ala996Gly) | gnomAD v4 |
1 | g.209617459G>T | CA344583870 | LAMB3 | c.3179C>A (p.Ala1060Asp) c.386C>A (p.Ala129Asp) c.2987C>A (p.Ala996Asp) | |
1 | g.209617460C>A | CA344583872 | LAMB3 | c.3178G>T (p.Ala1060Ser) c.385G>T (p.Ala129Ser) c.2986G>T (p.Ala996Ser) | |
1 | g.209617460C>G | CA344583874 | LAMB3 | c.3178G>C (p.Ala1060Pro) c.385G>C (p.Ala129Pro) c.2986G>C (p.Ala996Pro) | |
1 | g.209617460C>T | CA344583876 | LAMB3 | c.3178G>A (p.Ala1060Thr) c.385G>A (p.Ala129Thr) c.2986G>A (p.Ala996Thr) | gnomAD v4 |
1 | g.209617461C>A | CA344583877 | LAMB3 | c.3177G>T (p.Gln1059His) c.384G>T (p.Gln128His) c.2985G>T (p.Gln995His) | COSMIC |
1 | g.209617461C= | CA2484295866 | LAMB3 | c.3177G= (p.Gln1059=) c.384G= (p.Gln128=) c.2985G= (p.Gln995=) | |
1 | g.209617461C>G | CA344583878 | LAMB3 | c.3177G>C (p.Gln1059His) c.384G>C (p.Gln128His) c.2985G>C (p.Gln995His) | dbSNP |
1 | g.209617461C>T | CA423029431 | LAMB3 | c.3177G>A (p.Gln1059=) c.384G>A (p.Gln128=) c.2985G>A (p.Gln995=) | ClinVar |
1 | g.209617462T>A | CA344583879 | LAMB3 | c.3176A>T (p.Gln1059Leu) c.383A>T (p.Gln128Leu) c.2984A>T (p.Gln995Leu) | |
1 | g.209617462T>C | CA344583880 | LAMB3 | c.3176A>G (p.Gln1059Arg) c.383A>G (p.Gln128Arg) c.2984A>G (p.Gln995Arg) | |
1 | g.209617462T>G | CA344583881 | LAMB3 | c.3176A>C (p.Gln1059Pro) c.383A>C (p.Gln128Pro) c.2984A>C (p.Gln995Pro) | |
1 | g.209617463G>A | CA344583890 | LAMB3 | c.3175C>T (p.Gln1059Ter) c.382C>T (p.Gln128Ter) c.2983C>T (p.Gln995Ter) | |
1 | g.209617463G>C | CA344583884 | LAMB3 | c.3175C>G (p.Gln1059Glu) c.382C>G (p.Gln128Glu) c.2983C>G (p.Gln995Glu) | |
1 | g.209617463G= | CA2484295867 | LAMB3 | c.3175C= (p.Gln1059=) c.382C= (p.Gln128=) c.2983C= (p.Gln995=) | |
1 | g.209617463G>T | CA344583882 | LAMB3 | c.3175C>A (p.Gln1059Lys) c.382C>A (p.Gln128Lys) c.2983C>A (p.Gln995Lys) | dbSNP gnomAD v4 |
1 | g.209617464G>A | CA423029440 | LAMB3 | c.3174C>T (p.Val1058=) c.381C>T (p.Val127=) c.2982C>T (p.Val994=) | |
1 | g.209617464G>C | CA423029442 | LAMB3 | c.3174C>G (p.Val1058=) c.381C>G (p.Val127=) c.2982C>G (p.Val994=) | |
1 | g.209617464G>T | CA423029441 | LAMB3 | c.3174C>A (p.Val1058=) c.381C>A (p.Val127=) c.2982C>A (p.Val994=) | |
1 | g.209617465A= | CA2484295868 | LAMB3 | c.3173T= (p.Val1058=) c.380T= (p.Val127=) c.2981T= (p.Val994=) | |
1 | g.209617465A>C | CA344583892 | LAMB3 | c.3173T>G (p.Val1058Gly) c.380T>G (p.Val127Gly) c.2981T>G (p.Val994Gly) | dbSNP |
1 | g.209617465A>G | CA344583897 | LAMB3 | c.3173T>C (p.Val1058Ala) c.380T>C (p.Val127Ala) c.2981T>C (p.Val994Ala) | |
1 | g.209617465A>T | CA344583895 | LAMB3 | c.3173T>A (p.Val1058Asp) c.380T>A (p.Val127Asp) c.2981T>A (p.Val994Asp) | |
1 | g.209617466C>A | CA344583898 | LAMB3 | c.3172G>T (p.Val1058Phe) c.379G>T (p.Val127Phe) c.2980G>T (p.Val994Phe) | |
1 | g.209617466C>G | CA344583902 | LAMB3 | c.3172G>C (p.Val1058Leu) c.379G>C (p.Val127Leu) c.2980G>C (p.Val994Leu) | |
1 | g.209617466C>T | CA344583900 | LAMB3 | c.3172G>A (p.Val1058Ile) c.379G>A (p.Val127Ile) c.2980G>A (p.Val994Ile) | |
1 | g.209617467T>A | CA423029447 | LAMB3 | c.3171A>T (p.Ala1057=) c.378A>T (p.Ala126=) c.2979A>T (p.Ala993=) | |
1 | g.209617467T>C | CA423029448 | LAMB3 | c.3171A>G (p.Ala1057=) c.378A>G (p.Ala126=) c.2979A>G (p.Ala993=) | |
1 | g.209617467T>G | CA423029449 | LAMB3 | c.3171A>C (p.Ala1057=) c.378A>C (p.Ala126=) c.2979A>C (p.Ala993=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617468G>A | CA344583905 | LAMB3 | c.3170C>T (p.Ala1057Val) c.377C>T (p.Ala126Val) c.2978C>T (p.Ala993Val) | dbSNP gnomAD v4 |
1 | g.209617468G>C | CA344583907 | LAMB3 | c.3170C>G (p.Ala1057Gly) c.377C>G (p.Ala126Gly) c.2978C>G (p.Ala993Gly) | gnomAD v4 |
1 | g.209617468G>T | CA344583909 | LAMB3 | c.3170C>A (p.Ala1057Glu) c.377C>A (p.Ala126Glu) c.2978C>A (p.Ala993Glu) | gnomAD v4 |
1 | g.209617469C>A | CA344583913 | LAMB3 | c.3169G>T (p.Ala1057Ser) c.376G>T (p.Ala126Ser) c.2977G>T (p.Ala993Ser) | |
1 | g.209617469C>G | CA344583915 | LAMB3 | c.3169G>C (p.Ala1057Pro) c.376G>C (p.Ala126Pro) c.2977G>C (p.Ala993Pro) | |
1 | g.209617469C>T | CA344583916 | LAMB3 | c.3169G>A (p.Ala1057Thr) c.376G>A (p.Ala126Thr) c.2977G>A (p.Ala993Thr) | |
1 | g.209617470C>A | CA344583920 | LAMB3 | c.3168G>T (p.Glu1056Asp) c.375G>T (p.Glu125Asp) c.2976G>T (p.Glu992Asp) | |
1 | g.209617470C= | CA2484295869 | LAMB3 | c.3168G= (p.Glu1056=) c.375G= (p.Glu125=) c.2976G= (p.Glu992=) | |
1 | g.209617470C>G | CA344583922 | LAMB3 | c.3168G>C (p.Glu1056Asp) c.375G>C (p.Glu125Asp) c.2976G>C (p.Glu992Asp) | |
1 | g.209617470C>T | CA1374959 | LAMB3 | c.3168G>A (p.Glu1056=) c.375G>A (p.Glu125=) c.2976G>A (p.Glu992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617471T>A | CA344583926 | LAMB3 | c.3167A>T (p.Glu1056Val) c.374A>T (p.Glu125Val) c.2975A>T (p.Glu992Val) | |
1 | g.209617471T>C | CA344583928 | LAMB3 | c.3167A>G (p.Glu1056Gly) c.374A>G (p.Glu125Gly) c.2975A>G (p.Glu992Gly) | |
1 | g.209617471T>G | CA344583929 | LAMB3 | c.3167A>C (p.Glu1056Ala) c.374A>C (p.Glu125Ala) c.2975A>C (p.Glu992Ala) | |
1 | g.209617472C>A | CA344583932 | LAMB3 | c.3166G>T (p.Glu1056Ter) c.373G>T (p.Glu125Ter) c.2974G>T (p.Glu992Ter) | |
1 | g.209617472C>G | CA344583936 | LAMB3 | c.3166G>C (p.Glu1056Gln) c.373G>C (p.Glu125Gln) c.2974G>C (p.Glu992Gln) | |
1 | g.209617472C>T | CA344583933 | LAMB3 | c.3166G>A (p.Glu1056Lys) c.373G>A (p.Glu125Lys) c.2974G>A (p.Glu992Lys) | COSMIC |
1 | g.209617473T>A | CA423029463 | LAMB3 | c.3165A>T (p.Ala1055=) c.372A>T (p.Ala124=) c.2973A>T (p.Ala991=) | |
1 | g.209617473T>C | CA423029465 | LAMB3 | c.3165A>G (p.Ala1055=) c.372A>G (p.Ala124=) c.2973A>G (p.Ala991=) | |
1 | g.209617473T>G | CA423029466 | LAMB3 | c.3165A>C (p.Ala1055=) c.372A>C (p.Ala124=) c.2973A>C (p.Ala991=) | |
1 | g.209617474G>A | CA1374960 | LAMB3 | c.3164C>T (p.Ala1055Val) c.371C>T (p.Ala124Val) c.2972C>T (p.Ala991Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617474G>C | CA344583938 | LAMB3 | c.3164C>G (p.Ala1055Gly) c.371C>G (p.Ala124Gly) c.2972C>G (p.Ala991Gly) | |
1 | g.209617474G= | CA2484295870 | LAMB3 | c.3164C= (p.Ala1055=) c.371C= (p.Ala124=) c.2972C= (p.Ala991=) | |
1 | g.209617474G>T | CA1374961 | LAMB3 | c.3164C>A (p.Ala1055Glu) c.371C>A (p.Ala124Glu) c.2972C>A (p.Ala991Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617475C>A | CA344583942 | LAMB3 | c.3163G>T (p.Ala1055Ser) c.370G>T (p.Ala124Ser) c.2971G>T (p.Ala991Ser) | gnomAD v4 |
1 | g.209617475C= | CA2484295871 | LAMB3 | c.3163G= (p.Ala1055=) c.370G= (p.Ala124=) c.2971G= (p.Ala991=) | |
1 | g.209617475C>G | CA344583945 | LAMB3 | c.3163G>C (p.Ala1055Pro) c.370G>C (p.Ala124Pro) c.2971G>C (p.Ala991Pro) | |
1 | g.209617475C>T | CA1374962 | LAMB3 | c.3163G>A (p.Ala1055Thr) c.370G>A (p.Ala124Thr) c.2971G>A (p.Ala991Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617479dup | CA2650320259 | LAMB3 | c.3163dup (p.Ala1055GlyfsTer25) c.370dup (p.Ala124GlyfsTer25) c.2971dup (p.Ala991GlyfsTer25) | gnomAD v4 |
1 | g.209617479del | CA2573997751 | LAMB3 | c.3163del (p.Ala1055GlnfsTer18) c.370del (p.Ala124GlnfsTer18) c.2971del (p.Ala991GlnfsTer18) | ClinVar gnomAD v4 |
1 | g.209617476C>A | CA423029470 | LAMB3 | c.3162G>T (p.Gly1054=) c.369G>T (p.Gly123=) c.2970G>T (p.Gly990=) | |
1 | g.209617476C>G | CA423029471 | LAMB3 | c.3162G>C (p.Gly1054=) c.369G>C (p.Gly123=) c.2970G>C (p.Gly990=) | |
1 | g.209617476C>T | CA423029472 | LAMB3 | c.3162G>A (p.Gly1054=) c.369G>A (p.Gly123=) c.2970G>A (p.Gly990=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617477C>A | CA344583950 | LAMB3 | c.3161G>T (p.Gly1054Val) c.368G>T (p.Gly123Val) c.2969G>T (p.Gly990Val) | |
1 | g.209617477C>G | CA344583951 | LAMB3 | c.3161G>C (p.Gly1054Ala) c.368G>C (p.Gly123Ala) c.2969G>C (p.Gly990Ala) | |
1 | g.209617477C>T | CA344583952 | LAMB3 | c.3161G>A (p.Gly1054Glu) c.368G>A (p.Gly123Glu) c.2969G>A (p.Gly990Glu) | |
1 | g.209617478C>A | CA344583957 | LAMB3 | c.3160G>T (p.Gly1054Trp) c.367G>T (p.Gly123Trp) c.2968G>T (p.Gly990Trp) | |
1 | g.209617478C= | CA2484295873 | LAMB3 | c.3160G= (p.Gly1054=) c.367G= (p.Gly123=) c.2968G= (p.Gly990=) | |
1 | g.209617478C>G | CA1374963 | LAMB3 | c.3160G>C (p.Gly1054Arg) c.367G>C (p.Gly123Arg) c.2968G>C (p.Gly990Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617478C>T | CA344583955 | LAMB3 | c.3160G>A (p.Gly1054Arg) c.367G>A (p.Gly123Arg) c.2968G>A (p.Gly990Arg) | gnomAD v4 COSMIC |
1 | g.209617478_209617481delinsCCTG | CA2484295872 | LAMB3 | c.3157_3160delinsCAGG (p.Gln1053=) c.364_367delinsCAGG (p.Gln122=) c.2965_2968delinsCAGG (p.Gln989=) | |
1 | g.209617479C>A | CA344583962 | LAMB3 | c.3159G>T (p.Gln1053His) c.366G>T (p.Gln122His) c.2967G>T (p.Gln989His) | |
1 | g.209617479C= | CA2484295874 | LAMB3 | c.3159G= (p.Gln1053=) c.366G= (p.Gln122=) c.2967G= (p.Gln989=) | |
1 | g.209617479C>G | CA1374965 | LAMB3 | c.3159G>C (p.Gln1053His) c.366G>C (p.Gln122His) c.2967G>C (p.Gln989His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617479C>T | CA423029479 | LAMB3 | c.3159G>A (p.Gln1053=) c.366G>A (p.Gln122=) c.2967G>A (p.Gln989=) | |
1 | g.209617483_209617485del | CA1374964 | LAMB3 | c.3157_3159del (p.Gln1053del) c.364_366del (p.Gln122del) c.2965_2967del (p.Gln989del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617480T>A | CA344583967 | LAMB3 | c.3158A>T (p.Gln1053Leu) c.365A>T (p.Gln122Leu) c.2966A>T (p.Gln989Leu) | COSMIC |
1 | g.209617480T>C | CA344583969 | LAMB3 | c.3158A>G (p.Gln1053Arg) c.365A>G (p.Gln122Arg) c.2966A>G (p.Gln989Arg) | dbSNP gnomAD v2 |
1 | g.209617480T>G | CA344583975 | LAMB3 | c.3158A>C (p.Gln1053Pro) c.365A>C (p.Gln122Pro) c.2966A>C (p.Gln989Pro) | gnomAD v4 |
1 | g.209617480T= | CA2484295875 | LAMB3 | c.3158A= (p.Gln1053=) c.365A= (p.Gln122=) c.2966A= (p.Gln989=) | |
1 | g.209617481G>A | CA344583977 | LAMB3 | c.3157C>T (p.Gln1053Ter) c.364C>T (p.Gln122Ter) c.2965C>T (p.Gln989Ter) | |
1 | g.209617481G>C | CA344583979 | LAMB3 | c.3157C>G (p.Gln1053Glu) c.364C>G (p.Gln122Glu) c.2965C>G (p.Gln989Glu) | |
1 | g.209617481G>T | CA344583981 | LAMB3 | c.3157C>A (p.Gln1053Lys) c.364C>A (p.Gln122Lys) c.2965C>A (p.Gln989Lys) | |
1 | g.209617482C>A | CA344583983 | LAMB3 | c.3156G>T (p.Gln1052His) c.363G>T (p.Gln121His) c.2964G>T (p.Gln988His) | |
1 | g.209617482C>G | CA344583986 | LAMB3 | c.3156G>C (p.Gln1052His) c.363G>C (p.Gln121His) c.2964G>C (p.Gln988His) | |
1 | g.209617482C>T | CA423029485 | LAMB3 | c.3156G>A (p.Gln1052=) c.363G>A (p.Gln121=) c.2964G>A (p.Gln988=) | |
1 | g.209617483T>A | CA344583990 | LAMB3 | c.3155A>T (p.Gln1052Leu) c.362A>T (p.Gln121Leu) c.2963A>T (p.Gln988Leu) | |
1 | g.209617483T>C | CA344583992 | LAMB3 | c.3155A>G (p.Gln1052Arg) c.362A>G (p.Gln121Arg) c.2963A>G (p.Gln988Arg) | |
1 | g.209617483T>G | CA344583989 | LAMB3 | c.3155A>C (p.Gln1052Pro) c.362A>C (p.Gln121Pro) c.2963A>C (p.Gln988Pro) | |
1 | g.209617484G>A | CA344583994 | LAMB3 | c.3154C>T (p.Gln1052Ter) c.361C>T (p.Gln121Ter) c.2962C>T (p.Gln988Ter) | |
1 | g.209617484G>C | CA344583995 | LAMB3 | c.3154C>G (p.Gln1052Glu) c.361C>G (p.Gln121Glu) c.2962C>G (p.Gln988Glu) | |
1 | g.209617484G= | CA2484295876 | LAMB3 | c.3154C= (p.Gln1052=) c.361C= (p.Gln121=) c.2962C= (p.Gln988=) | |
1 | g.209617484G>T | CA10608966 | LAMB3 | c.3154C>A (p.Gln1052Lys) c.361C>A (p.Gln121Lys) c.2962C>A (p.Gln988Lys) | ClinVar dbSNP |
1 | g.209617485C>A | CA423029488 | LAMB3 | c.3153G>T (p.Arg1051=) c.360G>T (p.Arg120=) c.2961G>T (p.Arg987=) | |
1 | g.209617485C>G | CA423029489 | LAMB3 | c.3153G>C (p.Arg1051=) c.360G>C (p.Arg120=) c.2961G>C (p.Arg987=) | |
1 | g.209617485C>T | CA423029490 | LAMB3 | c.3153G>A (p.Arg1051=) c.360G>A (p.Arg120=) c.2961G>A (p.Arg987=) | gnomAD v4 |
1 | g.209617486C>A | CA344583997 | LAMB3 | c.3152G>T (p.Arg1051Leu) c.359G>T (p.Arg120Leu) c.2960G>T (p.Arg987Leu) | |
1 | g.209617486C= | CA2484295877 | LAMB3 | c.3152G= (p.Arg1051=) c.359G= (p.Arg120=) c.2960G= (p.Arg987=) | |
1 | g.209617486C>G | CA344583998 | LAMB3 | c.3152G>C (p.Arg1051Pro) c.359G>C (p.Arg120Pro) c.2960G>C (p.Arg987Pro) | |
1 | g.209617486C>T | CA1374966 | LAMB3 | c.3152G>A (p.Arg1051Gln) c.359G>A (p.Arg120Gln) c.2960G>A (p.Arg987Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617487G>A | CA1374967 | LAMB3 | c.3151C>T (p.Arg1051Trp) c.358C>T (p.Arg120Trp) c.2959C>T (p.Arg987Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617487G>C | CA344584004 | LAMB3 | c.3151C>G (p.Arg1051Gly) c.358C>G (p.Arg120Gly) c.2959C>G (p.Arg987Gly) | gnomAD v4 |
1 | g.209617487G= | CA1144243235 | LAMB3 | c.3151C= (p.Arg1051=) c.358C= (p.Arg120=) c.2959C= (p.Arg987=) | |
1 | g.209617487G>T | CA423029493 | LAMB3 | c.3151C>A (p.Arg1051=) c.358C>A (p.Arg120=) c.2959C>A (p.Arg987=) | |
1 | g.209617488G>A | CA423029495 | LAMB3 | c.3150C>T (p.Ala1050=) c.357C>T (p.Ala119=) c.2958C>T (p.Ala986=) | |
1 | g.209617488G>C | CA423029496 | LAMB3 | c.3150C>G (p.Ala1050=) c.357C>G (p.Ala119=) c.2958C>G (p.Ala986=) | |
1 | g.209617488G>T | CA423029497 | LAMB3 | c.3150C>A (p.Ala1050=) c.357C>A (p.Ala119=) c.2958C>A (p.Ala986=) | |
1 | g.209617489G>A | CA344584005 | LAMB3 | c.3149C>T (p.Ala1050Val) c.356C>T (p.Ala119Val) c.2957C>T (p.Ala986Val) | |
1 | g.209617489G>C | CA1374968 | LAMB3 | c.3149C>G (p.Ala1050Gly) c.356C>G (p.Ala119Gly) c.2957C>G (p.Ala986Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617489G= | CA2484295878 | LAMB3 | c.3149C= (p.Ala1050=) c.356C= (p.Ala119=) c.2957C= (p.Ala986=) | |
1 | g.209617489G>T | CA344584007 | LAMB3 | c.3149C>A (p.Ala1050Asp) c.356C>A (p.Ala119Asp) c.2957C>A (p.Ala986Asp) | |
1 | g.209617490del | CA2739275576 | LAMB3 | c.3148del (p.Ala1050ProfsTer23) c.355del (p.Ala119ProfsTer23) c.2956del (p.Ala986ProfsTer23) | ClinVar |
1 | g.209617490C>A | CA344584010 | LAMB3 | c.3148G>T (p.Ala1050Ser) c.355G>T (p.Ala119Ser) c.2956G>T (p.Ala986Ser) | |
1 | g.209617490C>G | CA344584012 | LAMB3 | c.3148G>C (p.Ala1050Pro) c.355G>C (p.Ala119Pro) c.2956G>C (p.Ala986Pro) | |
1 | g.209617490C>T | CA344584013 | LAMB3 | c.3148G>A (p.Ala1050Thr) c.355G>A (p.Ala119Thr) c.2956G>A (p.Ala986Thr) | |
1 | g.209617491T>A | CA344584015 | LAMB3 | c.3147A>T (p.Gln1049His) c.354A>T (p.Gln118His) c.2955A>T (p.Gln985His) | |
1 | g.209617491T>C | CA423029503 | LAMB3 | c.3147A>G (p.Gln1049=) c.354A>G (p.Gln118=) c.2955A>G (p.Gln985=) | |
1 | g.209617491T>G | CA344584017 | LAMB3 | c.3147A>C (p.Gln1049His) c.354A>C (p.Gln118His) c.2955A>C (p.Gln985His) | |
1 | g.209617492T>A | CA344584020 | LAMB3 | c.3146A>T (p.Gln1049Leu) c.353A>T (p.Gln118Leu) c.2954A>T (p.Gln985Leu) | |
1 | g.209617492T>C | CA344584024 | LAMB3 | c.3146A>G (p.Gln1049Arg) c.353A>G (p.Gln118Arg) c.2954A>G (p.Gln985Arg) | |
1 | g.209617492T>G | CA344584022 | LAMB3 | c.3146A>C (p.Gln1049Pro) c.353A>C (p.Gln118Pro) c.2954A>C (p.Gln985Pro) | |
1 | g.209617493G>A | CA344584025 | LAMB3 | c.3145C>T (p.Gln1049Ter) c.352C>T (p.Gln118Ter) c.2953C>T (p.Gln985Ter) | |
1 | g.209617493G>C | CA344584027 | LAMB3 | c.3145C>G (p.Gln1049Glu) c.352C>G (p.Gln118Glu) c.2953C>G (p.Gln985Glu) | |
1 | g.209617493G>T | CA344584029 | LAMB3 | c.3145C>A (p.Gln1049Lys) c.352C>A (p.Gln118Lys) c.2953C>A (p.Gln985Lys) | |
1 | g.209617494G>A | CA423029513 | LAMB3 | c.3144C>T (p.His1048=) c.351C>T (p.His117=) c.2952C>T (p.His984=) | |
1 | g.209617494G>C | CA344584031 | LAMB3 | c.3144C>G (p.His1048Gln) c.351C>G (p.His117Gln) c.2952C>G (p.His984Gln) | |
1 | g.209617494G>T | CA344584034 | LAMB3 | c.3144C>A (p.His1048Gln) c.351C>A (p.His117Gln) c.2952C>A (p.His984Gln) | |
1 | g.209617495T>A | CA344584039 | LAMB3 | c.3143A>T (p.His1048Leu) c.350A>T (p.His117Leu) c.2951A>T (p.His984Leu) | |
1 | g.209617495T>C | CA344584041 | LAMB3 | c.3143A>G (p.His1048Arg) c.350A>G (p.His117Arg) c.2951A>G (p.His984Arg) | dbSNP |
1 | g.209617495T>G | CA344584043 | LAMB3 | c.3143A>C (p.His1048Pro) c.350A>C (p.His117Pro) c.2951A>C (p.His984Pro) | |
1 | g.209617496G>A | CA344584045 | LAMB3 | c.3142C>T (p.His1048Tyr) c.349C>T (p.His117Tyr) c.2950C>T (p.His984Tyr) | |
1 | g.209617496G>C | CA344584046 | LAMB3 | c.3142C>G (p.His1048Asp) c.349C>G (p.His117Asp) c.2950C>G (p.His984Asp) | |
1 | g.209617496G>T | CA344584049 | LAMB3 | c.3142C>A (p.His1048Asn) c.349C>A (p.His117Asn) c.2950C>A (p.His984Asn) | |
1 | g.209617497G>A | CA423029515 | LAMB3 | c.3141C>T (p.Arg1047=) c.348C>T (p.Arg116=) c.2949C>T (p.Arg983=) | gnomAD v4 |
1 | g.209617497G>C | CA423029516 | LAMB3 | c.3141C>G (p.Arg1047=) c.348C>G (p.Arg116=) c.2949C>G (p.Arg983=) | |
1 | g.209617497G>T | CA423029519 | LAMB3 | c.3141C>A (p.Arg1047=) c.348C>A (p.Arg116=) c.2949C>A (p.Arg983=) | |
1 | g.209617498C>A | CA344584059 | LAMB3 | c.3140G>T (p.Arg1047Leu) c.347G>T (p.Arg116Leu) c.2948G>T (p.Arg983Leu) | dbSNP |
1 | g.209617498C= | CA2484295879 | LAMB3 | c.3140G= (p.Arg1047=) c.347G= (p.Arg116=) c.2948G= (p.Arg983=) | |
1 | g.209617498C>G | CA344584058 | LAMB3 | c.3140G>C (p.Arg1047Pro) c.347G>C (p.Arg116Pro) c.2948G>C (p.Arg983Pro) | |
1 | g.209617498C>T | CA344584056 | LAMB3 | c.3140G>A (p.Arg1047His) c.347G>A (p.Arg116His) c.2948G>A (p.Arg983His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.209617499G>A | CA1374969 | LAMB3 | c.3139C>T (p.Arg1047Cys) c.346C>T (p.Arg116Cys) c.2947C>T (p.Arg983Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617499G>C | CA344584063 | LAMB3 | c.3139C>G (p.Arg1047Gly) c.346C>G (p.Arg116Gly) c.2947C>G (p.Arg983Gly) | |
1 | g.209617499G= | CA2484295880 | LAMB3 | c.3139C= (p.Arg1047=) c.346C= (p.Arg116=) c.2947C= (p.Arg983=) | |
1 | g.209617499G>T | CA344584065 | LAMB3 | c.3139C>A (p.Arg1047Ser) c.346C>A (p.Arg116Ser) c.2947C>A (p.Arg983Ser) | |
1 | g.209617500G>A | CA423029523 | LAMB3 | c.3138C>T (p.Leu1046=) c.345C>T (p.Leu115=) c.2946C>T (p.Leu982=) | gnomAD v4 COSMIC |
1 | g.209617500G>C | CA423029524 | LAMB3 | c.3138C>G (p.Leu1046=) c.345C>G (p.Leu115=) c.2946C>G (p.Leu982=) | |
1 | g.209617500G>T | CA423029525 | LAMB3 | c.3138C>A (p.Leu1046=) c.345C>A (p.Leu115=) c.2946C>A (p.Leu982=) | |
1 | g.209617501A>C | CA344584068 | LAMB3 | c.3137T>G (p.Leu1046Arg) c.344T>G (p.Leu115Arg) c.2945T>G (p.Leu982Arg) | |
1 | g.209617501A>G | CA344584069 | LAMB3 | c.3137T>C (p.Leu1046Pro) c.344T>C (p.Leu115Pro) c.2945T>C (p.Leu982Pro) | |
1 | g.209617501A>T | CA344584071 | LAMB3 | c.3137T>A (p.Leu1046His) c.344T>A (p.Leu115His) c.2945T>A (p.Leu982His) | gnomAD v4 |
1 | g.209617502G>A | CA344584074 | LAMB3 | c.3136C>T (p.Leu1046Phe) c.343C>T (p.Leu115Phe) c.2944C>T (p.Leu982Phe) | ClinVar gnomAD v4 |
1 | g.209617502G>C | CA344584077 | LAMB3 | c.3136C>G (p.Leu1046Val) c.343C>G (p.Leu115Val) c.2944C>G (p.Leu982Val) | |
1 | g.209617502G>T | CA344584079 | LAMB3 | c.3136C>A (p.Leu1046Ile) c.343C>A (p.Leu115Ile) c.2944C>A (p.Leu982Ile) | |
1 | g.209617503C>A | CA344584082 | LAMB3 | c.3135G>T (p.Glu1045Asp) c.342G>T (p.Glu114Asp) c.2943G>T (p.Glu981Asp) | |
1 | g.209617503C= | CA2484295881 | LAMB3 | c.3135G= (p.Glu1045=) c.342G= (p.Glu114=) c.2943G= (p.Glu981=) | |
1 | g.209617503C>G | CA344584084 | LAMB3 | c.3135G>C (p.Glu1045Asp) c.342G>C (p.Glu114Asp) c.2943G>C (p.Glu981Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617503C>T | CA1374970 | LAMB3 | c.3135G>A (p.Glu1045=) c.342G>A (p.Glu114=) c.2943G>A (p.Glu981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617504T>A | CA344584090 | LAMB3 | c.3134A>T (p.Glu1045Val) c.341A>T (p.Glu114Val) c.2942A>T (p.Glu981Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617504T>C | CA344584088 | LAMB3 | c.3134A>G (p.Glu1045Gly) c.341A>G (p.Glu114Gly) c.2942A>G (p.Glu981Gly) | |
1 | g.209617504T>G | CA344584086 | LAMB3 | c.3134A>C (p.Glu1045Ala) c.341A>C (p.Glu114Ala) c.2942A>C (p.Glu981Ala) | |
1 | g.209617504T= | CA2484295882 | LAMB3 | c.3134A= (p.Glu1045=) c.341A= (p.Glu114=) c.2942A= (p.Glu981=) | |
1 | g.209617505C>A | CA344584092 | LAMB3 | c.3133G>T (p.Glu1045Ter) c.340G>T (p.Glu114Ter) c.2941G>T (p.Glu981Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617505C= | CA2484295883 | LAMB3 | c.3133G= (p.Glu1045=) c.340G= (p.Glu114=) c.2941G= (p.Glu981=) | |
1 | g.209617505C>G | CA344584093 | LAMB3 | c.3133G>C (p.Glu1045Gln) c.340G>C (p.Glu114Gln) c.2941G>C (p.Glu981Gln) | |
1 | g.209617505C>T | CA344584094 | LAMB3 | c.3133G>A (p.Glu1045Lys) c.340G>A (p.Glu114Lys) c.2941G>A (p.Glu981Lys) | gnomAD v4 |
1 | g.209617506C>A | CA344584096 | LAMB3 | c.3132G>T (p.Glu1044Asp) c.339G>T (p.Glu113Asp) c.2940G>T (p.Glu980Asp) | |
1 | g.209617506C= | CA2484295884 | LAMB3 | c.3132G= (p.Glu1044=) c.339G= (p.Glu113=) c.2940G= (p.Glu980=) | |
1 | g.209617506C>G | CA344584097 | LAMB3 | c.3132G>C (p.Glu1044Asp) c.339G>C (p.Glu113Asp) c.2940G>C (p.Glu980Asp) | dbSNP |
1 | g.209617506C>T | CA423029529 | LAMB3 | c.3132G>A (p.Glu1044=) c.339G>A (p.Glu113=) c.2940G>A (p.Glu980=) | ClinVar |
1 | g.209617507T>A | CA344584103 | LAMB3 | c.3131A>T (p.Glu1044Val) c.338A>T (p.Glu113Val) c.2939A>T (p.Glu980Val) | |
1 | g.209617507T>C | CA344584101 | LAMB3 | c.3131A>G (p.Glu1044Gly) c.338A>G (p.Glu113Gly) c.2939A>G (p.Glu980Gly) | |
1 | g.209617507T>G | CA344584099 | LAMB3 | c.3131A>C (p.Glu1044Ala) c.338A>C (p.Glu113Ala) c.2939A>C (p.Glu980Ala) | |
1 | g.209617508C>A | CA344584106 | LAMB3 | c.3130G>T (p.Glu1044Ter) c.337G>T (p.Glu113Ter) c.2938G>T (p.Glu980Ter) | ClinVar dbSNP |
1 | g.209617508C= | CA2484295885 | LAMB3 | c.3130G= (p.Glu1044=) c.337G= (p.Glu113=) c.2938G= (p.Glu980=) | |
1 | g.209617508C>G | CA344584109 | LAMB3 | c.3130G>C (p.Glu1044Gln) c.337G>C (p.Glu113Gln) c.2938G>C (p.Glu980Gln) | |
1 | g.209617508C>T | CA344584111 | LAMB3 | c.3130G>A (p.Glu1044Lys) c.337G>A (p.Glu113Lys) c.2938G>A (p.Glu980Lys) | |
1 | g.209617509C>A | CA344584121 | LAMB3 | c.3129G>T (p.Met1043Ile) c.336G>T (p.Met112Ile) c.2937G>T (p.Met979Ile) | |
1 | g.209617509C= | CA2484295886 | LAMB3 | c.3129G= (p.Met1043=) c.336G= (p.Met112=) c.2937G= (p.Met979=) | |
1 | g.209617509C>G | CA344584123 | LAMB3 | c.3129G>C (p.Met1043Ile) c.336G>C (p.Met112Ile) c.2937G>C (p.Met979Ile) | |
1 | g.209617509C>T | CA1374971 | LAMB3 | c.3129G>A (p.Met1043Ile) c.336G>A (p.Met112Ile) c.2937G>A (p.Met979Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617510A= | CA2484295887 | LAMB3 | c.3128T= (p.Met1043=) c.335T= (p.Met112=) c.2936T= (p.Met979=) | |
1 | g.209617510A>C | CA344584127 | LAMB3 | c.3128T>G (p.Met1043Arg) c.335T>G (p.Met112Arg) c.2936T>G (p.Met979Arg) | |
1 | g.209617510A>G | CA344584131 | LAMB3 | c.3128T>C (p.Met1043Thr) c.335T>C (p.Met112Thr) c.2936T>C (p.Met979Thr) | dbSNP |
1 | g.209617510A>T | CA344584130 | LAMB3 | c.3128T>A (p.Met1043Lys) c.335T>A (p.Met112Lys) c.2936T>A (p.Met979Lys) | |
1 | g.209617511T>A | CA344584132 | LAMB3 | c.3127A>T (p.Met1043Leu) c.334A>T (p.Met112Leu) c.2935A>T (p.Met979Leu) | |
1 | g.209617511T>C | CA36749592 | LAMB3 | c.3127A>G (p.Met1043Val) c.334A>G (p.Met112Val) c.2935A>G (p.Met979Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617511T>G | CA344584135 | LAMB3 | c.3127A>C (p.Met1043Leu) c.334A>C (p.Met112Leu) c.2935A>C (p.Met979Leu) | |
1 | g.209617511T= | CA2484295888 | LAMB3 | c.3127A= (p.Met1043=) c.334A= (p.Met112=) c.2935A= (p.Met979=) | |
1 | g.209617512C>A | CA423029536 | LAMB3 | c.3126G>T (p.Arg1042=) c.333G>T (p.Arg111=) c.2934G>T (p.Arg978=) | |
1 | g.209617512C>G | CA423029537 | LAMB3 | c.3126G>C (p.Arg1042=) c.333G>C (p.Arg111=) c.2934G>C (p.Arg978=) | |
1 | g.209617512C>T | CA423029538 | LAMB3 | c.3126G>A (p.Arg1042=) c.333G>A (p.Arg111=) c.2934G>A (p.Arg978=) | |
1 | g.209617513C>A | CA344584136 | LAMB3 | c.3125G>T (p.Arg1042Leu) c.332G>T (p.Arg111Leu) c.2933G>T (p.Arg978Leu) | |
1 | g.209617513C= | CA1149137829 | LAMB3 | c.3125G= (p.Arg1042=) c.332G= (p.Arg111=) c.2933G= (p.Arg978=) | |
1 | g.209617513C>G | CA344584137 | LAMB3 | c.3125G>C (p.Arg1042Pro) c.332G>C (p.Arg111Pro) c.2933G>C (p.Arg978Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617513C>T | CA1374972 | LAMB3 | c.3125G>A (p.Arg1042Gln) c.332G>A (p.Arg111Gln) c.2933G>A (p.Arg978Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617514G>A | CA1374973 | LAMB3 | c.3124C>T (p.Arg1042Trp) c.331C>T (p.Arg111Trp) c.2932C>T (p.Arg978Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617514G>C | CA1374974 | LAMB3 | c.3124C>G (p.Arg1042Gly) c.331C>G (p.Arg111Gly) c.2932C>G (p.Arg978Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617514G= | CA1141376577 | LAMB3 | c.3124C= (p.Arg1042=) c.331C= (p.Arg111=) c.2932C= (p.Arg978=) | |
1 | g.209617514G>T | CA423029541 | LAMB3 | c.3124C>A (p.Arg1042=) c.331C>A (p.Arg111=) c.2932C>A (p.Arg978=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617515T>A | CA423029545 | LAMB3 | c.3123A>T (p.Thr1041=) c.330A>T (p.Thr110=) c.2931A>T (p.Thr977=) | |
1 | g.209617515T>C | CA423029544 | LAMB3 | c.3123A>G (p.Thr1041=) c.330A>G (p.Thr110=) c.2931A>G (p.Thr977=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617515T>G | CA423029543 | LAMB3 | c.3123A>C (p.Thr1041=) c.330A>C (p.Thr110=) c.2931A>C (p.Thr977=) | |
1 | g.209617516G>A | CA1374975 | LAMB3 | c.3122C>T (p.Thr1041Ile) c.329C>T (p.Thr110Ile) c.2930C>T (p.Thr977Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617516G>C | CA344584143 | LAMB3 | c.3122C>G (p.Thr1041Arg) c.329C>G (p.Thr110Arg) c.2930C>G (p.Thr977Arg) | |
1 | g.209617516G= | CA1148563185 | LAMB3 | c.3122C= (p.Thr1041=) c.329C= (p.Thr110=) c.2930C= (p.Thr977=) | |
1 | g.209617516G>T | CA344584145 | LAMB3 | c.3122C>A (p.Thr1041Lys) c.329C>A (p.Thr110Lys) c.2930C>A (p.Thr977Lys) | |
1 | g.209617517T>A | CA344584152 | LAMB3 | c.3121A>T (p.Thr1041Ser) c.328A>T (p.Thr110Ser) c.2929A>T (p.Thr977Ser) | |
1 | g.209617517T>C | CA344584151 | LAMB3 | c.3121A>G (p.Thr1041Ala) c.328A>G (p.Thr110Ala) c.2929A>G (p.Thr977Ala) | |
1 | g.209617517T>G | CA344584148 | LAMB3 | c.3121A>C (p.Thr1041Pro) c.328A>C (p.Thr110Pro) c.2929A>C (p.Thr977Pro) | |
1 | g.209617518C>A | CA344584155 | LAMB3 | c.3120G>T (p.Trp1040Cys) c.327G>T (p.Trp109Cys) c.2928G>T (p.Trp976Cys) | |
1 | g.209617518C>G | CA344584158 | LAMB3 | c.3120G>C (p.Trp1040Cys) c.327G>C (p.Trp109Cys) c.2928G>C (p.Trp976Cys) | |
1 | g.209617518C>T | CA344584157 | LAMB3 | c.3120G>A (p.Trp1040Ter) c.327G>A (p.Trp109Ter) c.2928G>A (p.Trp976Ter) | |
1 | g.209617519C>A | CA344584160 | LAMB3 | c.3119G>T (p.Trp1040Leu) c.326G>T (p.Trp109Leu) c.2927G>T (p.Trp976Leu) | |
1 | g.209617519C= | CA2484295889 | LAMB3 | c.3119G= (p.Trp1040=) c.326G= (p.Trp109=) c.2927G= (p.Trp976=) | |
1 | g.209617519C>G | CA344584161 | LAMB3 | c.3119G>C (p.Trp1040Ser) c.326G>C (p.Trp109Ser) c.2927G>C (p.Trp976Ser) | |
1 | g.209617519C>T | CA16040688 | LAMB3 | c.3119G>A (p.Trp1040Ter) c.326G>A (p.Trp109Ter) c.2927G>A (p.Trp976Ter) | ClinVar dbSNP |