| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.7015724G>A | CA16620719 | LAMA1 | c.3124C>T (p.Gln1042Ter) n.4139C>T c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
| 18 | g.7015724G>C | CA401850398 | LAMA1 | c.3124C>G (p.Gln1042Glu) n.4139C>G c.1552C>G (p.Gln518Glu) | |
| 18 | g.7015724G= | CA2282694595 | LAMA1 | c.3124C= (p.Gln1042=) n.4139C= c.1552C= (p.Gln518=) | |
| 18 | g.7015724G>T | CA401850399 | LAMA1 | c.3124C>A (p.Gln1042Lys) n.4139C>A c.1552C>A (p.Gln518Lys) | |
| 18 | g.7015725G>A | CA502489962 | LAMA1 | c.3123C>T (p.Cys1041=) n.4138C>T c.1551C>T (p.Cys517=) | gnomAD v4 COSMIC |
| 18 | g.7015725G>C | CA401850400 | LAMA1 | c.3123C>G (p.Cys1041Trp) n.4138C>G c.1551C>G (p.Cys517Trp) | |
| 18 | g.7015725G>T | CA401850401 | LAMA1 | c.3123C>A (p.Cys1041Ter) n.4138C>A c.1551C>A (p.Cys517Ter) | |
| 18 | g.7015726C>A | CA401850402 | LAMA1 | c.3122G>T (p.Cys1041Phe) n.4137G>T c.1550G>T (p.Cys517Phe) | |
| 18 | g.7015726C>G | CA401850403 | LAMA1 | c.3122G>C (p.Cys1041Ser) n.4137G>C c.1550G>C (p.Cys517Ser) | |
| 18 | g.7015726C>T | CA401850404 | LAMA1 | c.3122G>A (p.Cys1041Tyr) n.4137G>A c.1550G>A (p.Cys517Tyr) | |
| 18 | g.7015727A>C | CA401850405 | LAMA1 | c.3121T>G (p.Cys1041Gly) n.4136T>G c.1549T>G (p.Cys517Gly) | |
| 18 | g.7015727A>G | CA401850406 | LAMA1 | c.3121T>C (p.Cys1041Arg) n.4136T>C c.1549T>C (p.Cys517Arg) | gnomAD v4 |
| 18 | g.7015727A>T | CA401850407 | LAMA1 | c.3121T>A (p.Cys1041Ser) n.4136T>A c.1549T>A (p.Cys517Ser) | COSMIC |
| 18 | g.7015728C>A | CA502489973 | LAMA1 | c.3120G>T (p.Gly1040=) n.4135G>T c.1548G>T (p.Gly516=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015728C= | CA2282694596 | LAMA1 | c.3120G= (p.Gly1040=) n.4135G= c.1548G= (p.Gly516=) | |
| 18 | g.7015728C>G | CA502489975 | LAMA1 | c.3120G>C (p.Gly1040=) n.4135G>C c.1548G>C (p.Gly516=) | |
| 18 | g.7015728C>T | CA502489977 | LAMA1 | c.3120G>A (p.Gly1040=) n.4135G>A c.1548G>A (p.Gly516=) | gnomAD v4 |
| 18 | g.7015729C>A | CA401850409 | LAMA1 | c.3119G>T (p.Gly1040Val) n.4134G>T c.1547G>T (p.Gly516Val) | |
| 18 | g.7015729C= | CA2282694597 | LAMA1 | c.3119G= (p.Gly1040=) n.4134G= c.1547G= (p.Gly516=) | |
| 18 | g.7015729C>G | CA401850408 | LAMA1 | c.3119G>C (p.Gly1040Ala) n.4134G>C c.1547G>C (p.Gly516Ala) | |
| 18 | g.7015729C>T | CA8882398 | LAMA1 | c.3119G>A (p.Gly1040Glu) n.4134G>A c.1547G>A (p.Gly516Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015730C>A | CA401850410 | LAMA1 | c.3118G>T (p.Gly1040Trp) n.4133G>T c.1546G>T (p.Gly516Trp) | |
| 18 | g.7015730C>G | CA401850411 | LAMA1 | c.3118G>C (p.Gly1040Arg) n.4133G>C c.1546G>C (p.Gly516Arg) | |
| 18 | g.7015730C>T | CA401850412 | LAMA1 | c.3118G>A (p.Gly1040Arg) n.4133G>A c.1546G>A (p.Gly516Arg) | |
| 18 | g.7015731C>A | CA502489981 | LAMA1 | c.3117G>T (p.Val1039=) n.4132G>T c.1545G>T (p.Val515=) | |
| 18 | g.7015731C>G | CA502489982 | LAMA1 | c.3117G>C (p.Val1039=) n.4132G>C c.1545G>C (p.Val515=) | |
| 18 | g.7015731C>T | CA502489984 | LAMA1 | c.3117G>A (p.Val1039=) n.4132G>A c.1545G>A (p.Val515=) | gnomAD v4 |
| 18 | g.7015732A= | CA2282694598 | LAMA1 | c.3116T= (p.Val1039=) n.4131T= c.1544T= (p.Val515=) | |
| 18 | g.7015732A>C | CA401850413 | LAMA1 | c.3116T>G (p.Val1039Gly) n.4131T>G c.1544T>G (p.Val515Gly) | gnomAD v4 |
| 18 | g.7015732A>G | CA401850414 | LAMA1 | c.3116T>C (p.Val1039Ala) n.4131T>C c.1544T>C (p.Val515Ala) | dbSNP |
| 18 | g.7015732A>T | CA401850415 | LAMA1 | c.3116T>A (p.Val1039Glu) n.4131T>A c.1544T>A (p.Val515Glu) | |
| 18 | g.7015733C>A | CA401850416 | LAMA1 | c.3115G>T (p.Val1039Leu) n.4130G>T c.1543G>T (p.Val515Leu) | |
| 18 | g.7015733C>G | CA401850417 | LAMA1 | c.3115G>C (p.Val1039Leu) n.4130G>C c.1543G>C (p.Val515Leu) | |
| 18 | g.7015733C>T | CA401850418 | LAMA1 | c.3115G>A (p.Val1039Met) n.4130G>A c.1543G>A (p.Val515Met) | |
| 18 | g.7015734C>A | CA401850419 | LAMA1 | c.3114G>T (p.Glu1038Asp) n.4129G>T c.1542G>T (p.Glu514Asp) | |
| 18 | g.7015734C= | CA2282694599 | LAMA1 | c.3114G= (p.Glu1038=) n.4129G= c.1542G= (p.Glu514=) | |
| 18 | g.7015734C>G | CA401850420 | LAMA1 | c.3114G>C (p.Glu1038Asp) n.4129G>C c.1542G>C (p.Glu514Asp) | |
| 18 | g.7015734C>T | CA502489995 | LAMA1 | c.3114G>A (p.Glu1038=) n.4129G>A c.1542G>A (p.Glu514=) | dbSNP |
| 18 | g.7015735T>A | CA401850421 | LAMA1 | c.3113A>T (p.Glu1038Val) n.4128A>T c.1541A>T (p.Glu514Val) | |
| 18 | g.7015735T>C | CA401850422 | LAMA1 | c.3113A>G (p.Glu1038Gly) n.4128A>G c.1541A>G (p.Glu514Gly) | dbSNP |
| 18 | g.7015735T>G | CA401850423 | LAMA1 | c.3113A>C (p.Glu1038Ala) n.4128A>C c.1541A>C (p.Glu514Ala) | |
| 18 | g.7015735T= | CA2282694600 | LAMA1 | c.3113A= (p.Glu1038=) n.4128A= c.1541A= (p.Glu514=) | |
| 18 | g.7015736C>A | CA401850424 | LAMA1 | c.3112G>T (p.Glu1038Ter) n.4127G>T c.1540G>T (p.Glu514Ter) | |
| 18 | g.7015736C= | CA2282694601 | LAMA1 | c.3112G= (p.Glu1038=) n.4127G= c.1540G= (p.Glu514=) | |
| 18 | g.7015736C>G | CA401850425 | LAMA1 | c.3112G>C (p.Glu1038Gln) n.4127G>C c.1540G>C (p.Glu514Gln) | |
| 18 | g.7015736C>T | CA8882399 | LAMA1 | c.3112G>A (p.Glu1038Lys) n.4127G>A c.1540G>A (p.Glu514Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.7015737C>A | CA502490001 | LAMA1 | c.3111G>T (p.Ala1037=) n.4126G>T c.1539G>T (p.Ala513=) | |
| 18 | g.7015737C= | CA2282694602 | LAMA1 | c.3111G= (p.Ala1037=) n.4126G= c.1539G= (p.Ala513=) | |
| 18 | g.7015737C>G | CA502490006 | LAMA1 | c.3111G>C (p.Ala1037=) n.4126G>C c.1539G>C (p.Ala513=) | |
| 18 | g.7015737C>T | CA8882400 | LAMA1 | c.3111G>A (p.Ala1037=) n.4126G>A c.1539G>A (p.Ala513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |