Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) |