Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.183240040G>A | CA343660149 | LAMC2 | c.3070G>A (p.Glu1024Lys) n.540G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240040G>C | CA343660152 | LAMC2 | c.3070G>C (p.Glu1024Gln) n.540G>C | |
1 | g.183240040G= | CA1211824081 | LAMC2 | c.3070G= (p.Glu1024=) n.540G= | |
1 | g.183240040G>T | CA343660155 | LAMC2 | c.3070G>T (p.Glu1024Ter) n.540G>T | |
1 | g.183240041A>C | CA343660158 | LAMC2 | c.3071A>C (p.Glu1024Ala) n.541A>C | |
1 | g.183240041A>G | CA343660161 | LAMC2 | c.3071A>G (p.Glu1024Gly) n.541A>G | |
1 | g.183240041A>T | CA343660162 | LAMC2 | c.3071A>T (p.Glu1024Val) n.541A>T | |
1 | g.183240042G>A | CA422112515 | LAMC2 | c.3072G>A (p.Glu1024=) n.542G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240042G>C | CA343660166 | LAMC2 | c.3072G>C (p.Glu1024Asp) n.542G>C | |
1 | g.183240042G= | CA1211824082 | LAMC2 | c.3072G= (p.Glu1024=) n.542G= | |
1 | g.183240042G>T | CA33947119 | LAMC2 | c.3072G>T (p.Glu1024Asp) n.542G>T | dbSNP gnomAD v4 |
1 | g.183240043A>C | CA343660174 | LAMC2 | c.3073A>C (p.Ile1025Leu) n.543A>C | |
1 | g.183240043A>G | CA343660176 | LAMC2 | c.3073A>G (p.Ile1025Val) n.543A>G | gnomAD v4 |
1 | g.183240043A>T | CA343660172 | LAMC2 | c.3073A>T (p.Ile1025Phe) n.543A>T | |
1 | g.183240044T>A | CA343660178 | LAMC2 | c.3074T>A (p.Ile1025Asn) n.544T>A | |
1 | g.183240044T>C | CA343660180 | LAMC2 | c.3074T>C (p.Ile1025Thr) n.544T>C | |
1 | g.183240044T>G | CA343660183 | LAMC2 | c.3074T>G (p.Ile1025Ser) n.544T>G | |
1 | g.183240045T>A | CA422112516 | LAMC2 | c.3075T>A (p.Ile1025=) n.545T>A | |
1 | g.183240045T>C | CA422112517 | LAMC2 | c.3075T>C (p.Ile1025=) n.545T>C | |
1 | g.183240045T>G | CA343660185 | LAMC2 | c.3075T>G (p.Ile1025Met) n.545T>G | |
1 | g.183240046G>A | CA1283150 | LAMC2 | c.3076G>A (p.Gly1026Arg) n.546G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240046G>C | CA343660189 | LAMC2 | c.3076G>C (p.Gly1026Arg) n.546G>C | |
1 | g.183240046G= | CA1211824083 | LAMC2 | c.3076G= (p.Gly1026=) n.546G= | |
1 | g.183240046G>T | CA343660191 | LAMC2 | c.3076G>T (p.Gly1026Trp) n.546G>T | |
1 | g.183240047G>A | CA343660192 | LAMC2 | c.3077G>A (p.Gly1026Glu) n.547G>A | |
1 | g.183240047G>C | CA343660193 | LAMC2 | c.3077G>C (p.Gly1026Ala) n.547G>C | |
1 | g.183240047G>T | CA343660195 | LAMC2 | c.3077G>T (p.Gly1026Val) n.547G>T | |
1 | g.183240048G>A | CA1283152 | LAMC2 | c.3078G>A (p.Gly1026=) n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240048G>C | CA422112521 | LAMC2 | c.3078G>C (p.Gly1026=) n.548G>C | |
1 | g.183240048G= | CA1211824084 | LAMC2 | c.3078G= (p.Gly1026=) n.548G= | |
1 | g.183240048G>T | CA1283151 | LAMC2 | c.3078G>T (p.Gly1026=) n.548G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240049A>C | CA343660204 | LAMC2 | c.3079A>C (p.Ser1027Arg) n.549A>C | |
1 | g.183240049A>G | CA343660205 | LAMC2 | c.3079A>G (p.Ser1027Gly) n.549A>G | dbSNP |
1 | g.183240049A>T | CA343660203 | LAMC2 | c.3079A>T (p.Ser1027Cys) n.549A>T | |
1 | g.183240050G>A | CA343660206 | LAMC2 | c.3080G>A (p.Ser1027Asn) n.550G>A | gnomAD v4 |
1 | g.183240050G>C | CA343660207 | LAMC2 | c.3080G>C (p.Ser1027Thr) n.550G>C | |
1 | g.183240050G>T | CA343660209 | LAMC2 | c.3080G>T (p.Ser1027Ile) n.550G>T | |
1 | g.183240051T>A | CA343660211 | LAMC2 | c.3081T>A (p.Ser1027Arg) n.551T>A | |
1 | g.183240051T>C | CA1283153 | LAMC2 | c.3081T>C (p.Ser1027=) n.551T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183240051T>G | CA343660213 | LAMC2 | c.3081T>G (p.Ser1027Arg) n.551T>G | |
1 | g.183240051T= | CA1211824085 | LAMC2 | c.3081T= (p.Ser1027=) n.551T= | |
1 | g.183240052C>A | CA343660215 | LAMC2 | c.3082C>A (p.Leu1028Met) n.552C>A | |
1 | g.183240052C>G | CA343660217 | LAMC2 | c.3082C>G (p.Leu1028Val) n.552C>G | gnomAD v4 |
1 | g.183240052C>T | CA422112522 | LAMC2 | c.3082C>T (p.Leu1028=) n.552C>T | |
1 | g.183240053T>A | CA343660219 | LAMC2 | c.3083T>A (p.Leu1028Gln) n.553T>A | |
1 | g.183240053T>C | CA343660220 | LAMC2 | c.3083T>C (p.Leu1028Pro) n.553T>C | |
1 | g.183240053T>G | CA343660223 | LAMC2 | c.3083T>G (p.Leu1028Arg) n.553T>G | |
1 | g.183240054G>A | CA422112523 | LAMC2 | c.3084G>A (p.Leu1028=) n.554G>A | |
1 | g.183240054G>C | CA422112524 | LAMC2 | c.3084G>C (p.Leu1028=) n.554G>C | |
1 | g.183240054G>T | CA422112525 | LAMC2 | c.3084G>T (p.Leu1028=) n.554G>T | gnomAD v4 |