| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129349328_129349331del | CA913109490 | LAMA2 | c.4467_4470del (p.Asp1490ThrfsTer?) c.4731_4734del (p.Asp1578ThrfsTer?) n.116_119del c.4737_4740del (p.Asp1580ThrfsTer?) c.2862_2865del (p.Asp955ThrfsTer?) | |
| 6 | g.129349328_129349331delinsTGAC | CA1663115107 | LAMA2 | c.4467_4470delinsTGAC (p.Leu1489=) c.4731_4734delinsTGAC (p.Leu1577=) n.116_119delinsTGAC c.4737_4740delinsTGAC (p.Leu1579=) c.2862_2865delinsTGAC (p.Leu954=) | |
| 6 | g.129349332_129349334del | CA658821749 | LAMA2 | c.4471_4473del (p.Asp1491del) c.4735_4737del (p.Asp1579del) n.120_122del c.4741_4743del (p.Asp1581del) c.2866_2868del (p.Asp956del) | ClinVar dbSNP |
| 6 | g.129349331C>A | CA365617416 | LAMA2 | c.4470C>A (p.Asp1490Glu) c.4734C>A (p.Asp1578Glu) n.119C>A c.4740C>A (p.Asp1580Glu) c.2865C>A (p.Asp955Glu) | |
| 6 | g.129349331C= | CA1663115118 | LAMA2 | c.4470C= (p.Asp1490=) c.4734C= (p.Asp1578=) n.119C= c.4740C= (p.Asp1580=) c.2865C= (p.Asp955=) | |
| 6 | g.129349331C>G | CA365617419 | LAMA2 | c.4470C>G (p.Asp1490Glu) c.4734C>G (p.Asp1578Glu) n.119C>G c.4740C>G (p.Asp1580Glu) c.2865C>G (p.Asp955Glu) | |
| 6 | g.129349331C>T | CA146123 | LAMA2 | c.4470C>T (p.Asp1490=) c.4734C>T (p.Asp1578=) n.119C>T c.4740C>T (p.Asp1580=) c.2865C>T (p.Asp955=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129349332G>A | CA3993565 | LAMA2 | c.4471G>A (p.Asp1491Asn) c.4735G>A (p.Asp1579Asn) n.120G>A c.4741G>A (p.Asp1581Asn) c.2866G>A (p.Asp956Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129349332G>C | CA365617423 | LAMA2 | c.4471G>C (p.Asp1491His) c.4735G>C (p.Asp1579His) n.120G>C c.4741G>C (p.Asp1581His) c.2866G>C (p.Asp956His) | |
| 6 | g.129349332G= | CA1663115119 | LAMA2 | c.4471G= (p.Asp1491=) c.4735G= (p.Asp1579=) n.120G= c.4741G= (p.Asp1581=) c.2866G= (p.Asp956=) | |
| 6 | g.129349332G>T | CA365617425 | LAMA2 | c.4471G>T (p.Asp1491Tyr) c.4735G>T (p.Asp1579Tyr) n.120G>T c.4741G>T (p.Asp1581Tyr) c.2866G>T (p.Asp956Tyr) | |
| 6 | g.129349333A>C | CA365617427 | LAMA2 | c.4472A>C (p.Asp1491Ala) c.4736A>C (p.Asp1579Ala) n.121A>C c.4742A>C (p.Asp1581Ala) c.2867A>C (p.Asp956Ala) | |
| 6 | g.129349333A>G | CA365617428 | LAMA2 | c.4472A>G (p.Asp1491Gly) c.4736A>G (p.Asp1579Gly) n.121A>G c.4742A>G (p.Asp1581Gly) c.2867A>G (p.Asp956Gly) | gnomAD v4 |
| 6 | g.129349333A>T | CA365617429 | LAMA2 | c.4472A>T (p.Asp1491Val) c.4736A>T (p.Asp1579Val) n.121A>T c.4742A>T (p.Asp1581Val) c.2867A>T (p.Asp956Val) | |
| 6 | g.129349334C>A | CA365617431 | LAMA2 | c.4473C>A (p.Asp1491Glu) c.4737C>A (p.Asp1579Glu) n.122C>A c.4743C>A (p.Asp1581Glu) c.2868C>A (p.Asp956Glu) | |
| 6 | g.129349334C= | CA1663115120 | LAMA2 | c.4473C= (p.Asp1491=) c.4737C= (p.Asp1579=) n.122C= c.4743C= (p.Asp1581=) c.2868C= (p.Asp956=) | |
| 6 | g.129349334C>G | CA365617432 | LAMA2 | c.4473C>G (p.Asp1491Glu) c.4737C>G (p.Asp1579Glu) n.122C>G c.4743C>G (p.Asp1581Glu) c.2868C>G (p.Asp956Glu) | |
| 6 | g.129349334C>T | CA451926587 | LAMA2 | c.4473C>T (p.Asp1491=) c.4737C>T (p.Asp1579=) n.122C>T c.4743C>T (p.Asp1581=) c.2868C>T (p.Asp956=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129349335T>A | CA365617433 | LAMA2 | c.4474T>A (p.Tyr1492Asn) c.4738T>A (p.Tyr1580Asn) n.123T>A c.4744T>A (p.Tyr1582Asn) c.2869T>A (p.Tyr957Asn) | |
| 6 | g.129349335T>C | CA365617436 | LAMA2 | c.4474T>C (p.Tyr1492His) c.4738T>C (p.Tyr1580His) n.123T>C c.4744T>C (p.Tyr1582His) c.2869T>C (p.Tyr957His) | |
| 6 | g.129349335T>G | CA365617434 | LAMA2 | c.4474T>G (p.Tyr1492Asp) c.4738T>G (p.Tyr1580Asp) n.123T>G c.4744T>G (p.Tyr1582Asp) c.2869T>G (p.Tyr957Asp) | |
| 6 | g.129349336A= | CA1663115122 | LAMA2 | c.4475A= (p.Tyr1492=) c.4739A= (p.Tyr1580=) n.124A= n.1A= c.4745A= (p.Tyr1582=) c.2870A= (p.Tyr957=) | |
| 6 | g.129349336A>C | CA365617438 | LAMA2 | c.4475A>C (p.Tyr1492Ser) c.4739A>C (p.Tyr1580Ser) n.124A>C n.1A>C c.4745A>C (p.Tyr1582Ser) c.2870A>C (p.Tyr957Ser) | dbSNP gnomAD v2 |
| 6 | g.129349336A>G | CA365617439 | LAMA2 | c.4475A>G (p.Tyr1492Cys) c.4739A>G (p.Tyr1580Cys) n.124A>G n.1A>G c.4745A>G (p.Tyr1582Cys) c.2870A>G (p.Tyr957Cys) | |
| 6 | g.129349336A>T | CA365617440 | LAMA2 | c.4475A>T (p.Tyr1492Phe) c.4739A>T (p.Tyr1580Phe) n.124A>T n.1A>T c.4745A>T (p.Tyr1582Phe) c.2870A>T (p.Tyr957Phe) | |
| 6 | g.129349337C>A | CA365617442 | LAMA2 | c.4476C>A (p.Tyr1492Ter) c.4740C>A (p.Tyr1580Ter) n.125C>A n.2C>A c.4746C>A (p.Tyr1582Ter) c.2871C>A (p.Tyr957Ter) | |
| 6 | g.129349337C>G | CA365617444 | LAMA2 | c.4476C>G (p.Tyr1492Ter) c.4740C>G (p.Tyr1580Ter) n.125C>G n.2C>G c.4746C>G (p.Tyr1582Ter) c.2871C>G (p.Tyr957Ter) | |
| 6 | g.129349337C>T | CA451926593 | LAMA2 | c.4476C>T (p.Tyr1492=) c.4740C>T (p.Tyr1580=) n.125C>T n.2C>T c.4746C>T (p.Tyr1582=) c.2871C>T (p.Tyr957=) | gnomAD v4 |
| 6 | g.129349338C>A | CA365617446 | LAMA2 | c.4477C>A (p.Arg1493Ser) c.4741C>A (p.Arg1581Ser) n.126C>A n.3C>A c.4747C>A (p.Arg1583Ser) c.2872C>A (p.Arg958Ser) | |
| 6 | g.129349338C= | CA1663115126 | LAMA2 | c.4477C= (p.Arg1493=) c.4741C= (p.Arg1581=) n.126C= n.3C= c.4747C= (p.Arg1583=) c.2872C= (p.Arg958=) | |
| 6 | g.129349338C>G | CA365617447 | LAMA2 | c.4477C>G (p.Arg1493Gly) c.4741C>G (p.Arg1581Gly) n.126C>G n.3C>G c.4747C>G (p.Arg1583Gly) c.2872C>G (p.Arg958Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129349338C>T | CA3993566 | LAMA2 | c.4477C>T (p.Arg1493Cys) c.4741C>T (p.Arg1581Cys) n.126C>T n.3C>T c.4747C>T (p.Arg1583Cys) c.2872C>T (p.Arg958Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129349339G>A | CA3993567 | LAMA2 | c.4478G>A (p.Arg1493His) c.4742G>A (p.Arg1581His) n.127G>A n.4G>A c.4748G>A (p.Arg1583His) c.2873G>A (p.Arg958His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129349339G>C | CA365617449 | LAMA2 | c.4478G>C (p.Arg1493Pro) c.4742G>C (p.Arg1581Pro) n.127G>C n.4G>C c.4748G>C (p.Arg1583Pro) c.2873G>C (p.Arg958Pro) | |
| 6 | g.129349339G= | CA1663115134 | LAMA2 | c.4478G= (p.Arg1493=) c.4742G= (p.Arg1581=) n.127G= n.4G= c.4748G= (p.Arg1583=) c.2873G= (p.Arg958=) | |
| 6 | g.129349339G>T | CA365617451 | LAMA2 | c.4478G>T (p.Arg1493Leu) c.4742G>T (p.Arg1581Leu) n.127G>T n.4G>T c.4748G>T (p.Arg1583Leu) c.2873G>T (p.Arg958Leu) | |
| 6 | g.129349340C>A | CA451926597 | LAMA2 | c.4479C>A (p.Arg1493=) c.4743C>A (p.Arg1581=) n.128C>A n.5C>A c.4749C>A (p.Arg1583=) c.2874C>A (p.Arg958=) | COSMIC |
| 6 | g.129349340C= | CA1663115138 | LAMA2 | c.4479C= (p.Arg1493=) c.4743C= (p.Arg1581=) n.128C= n.5C= c.4749C= (p.Arg1583=) c.2874C= (p.Arg958=) | |
| 6 | g.129349340C>G | CA451926600 | LAMA2 | c.4479C>G (p.Arg1493=) c.4743C>G (p.Arg1581=) n.128C>G n.5C>G c.4749C>G (p.Arg1583=) c.2874C>G (p.Arg958=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129349340C>T | CA3993568 | LAMA2 | c.4479C>T (p.Arg1493=) c.4743C>T (p.Arg1581=) n.128C>T n.5C>T c.4749C>T (p.Arg1583=) c.2874C>T (p.Arg958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129349341T>A | CA365617454 | LAMA2 | c.4480T>A (p.Cys1494Ser) c.4744T>A (p.Cys1582Ser) n.129T>A n.6T>A c.4750T>A (p.Cys1584Ser) c.2875T>A (p.Cys959Ser) | |
| 6 | g.129349341T>C | CA365617455 | LAMA2 | c.4480T>C (p.Cys1494Arg) c.4744T>C (p.Cys1582Arg) n.129T>C n.6T>C c.4750T>C (p.Cys1584Arg) c.2875T>C (p.Cys959Arg) | |
| 6 | g.129349341T>G | CA365617453 | LAMA2 | c.4480T>G (p.Cys1494Gly) c.4744T>G (p.Cys1582Gly) n.129T>G n.6T>G c.4750T>G (p.Cys1584Gly) c.2875T>G (p.Cys959Gly) | |
| 6 | g.129349342G>A | CA365617459 | LAMA2 | c.4481G>A (p.Cys1494Tyr) c.4745G>A (p.Cys1582Tyr) n.130G>A n.7G>A c.4751G>A (p.Cys1584Tyr) c.2876G>A (p.Cys959Tyr) | gnomAD v4 |
| 6 | g.129349342G>C | CA365617457 | LAMA2 | c.4481G>C (p.Cys1494Ser) c.4745G>C (p.Cys1582Ser) n.130G>C n.7G>C c.4751G>C (p.Cys1584Ser) c.2876G>C (p.Cys959Ser) | |
| 6 | g.129349342G>T | CA365617461 | LAMA2 | c.4481G>T (p.Cys1494Phe) c.4745G>T (p.Cys1582Phe) n.130G>T n.7G>T c.4751G>T (p.Cys1584Phe) c.2876G>T (p.Cys959Phe) | |
| 6 | g.129349343C>A | CA365617462 | LAMA2 | c.4482C>A (p.Cys1494Ter) c.4746C>A (p.Cys1582Ter) n.131C>A n.8C>A c.4752C>A (p.Cys1584Ter) c.2877C>A (p.Cys959Ter) | |
| 6 | g.129349343C>G | CA365617463 | LAMA2 | c.4482C>G (p.Cys1494Trp) c.4746C>G (p.Cys1582Trp) n.131C>G n.8C>G c.4752C>G (p.Cys1584Trp) c.2877C>G (p.Cys959Trp) | |
| 6 | g.129349343C>T | CA451926604 | LAMA2 | c.4482C>T (p.Cys1494=) c.4746C>T (p.Cys1582=) n.131C>T n.8C>T c.4752C>T (p.Cys1584=) c.2877C>T (p.Cys959=) | gnomAD v4 |
| 6 | g.129349344A= | CA1663115146 | LAMA2 | c.4483A= (p.Thr1495=) c.4747A= (p.Thr1583=) n.132A= n.9A= c.4753A= (p.Thr1585=) c.2878A= (p.Thr960=) |