Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129314699A>C | CA365612266 | LAMA2 | c.3456A>C (p.Lys1152Asn) c.3720A>C (p.Lys1240Asn) c.3726A>C (p.Lys1242Asn) c.1851A>C (p.Lys617Asn) | |
6 | g.129314699A>G | CA451936624 | LAMA2 | c.3456A>G (p.Lys1152=) c.3720A>G (p.Lys1240=) c.3726A>G (p.Lys1242=) c.1851A>G (p.Lys617=) | |
6 | g.129314699A>T | CA365612267 | LAMA2 | c.3456A>T (p.Lys1152Asn) c.3720A>T (p.Lys1240Asn) c.3726A>T (p.Lys1242Asn) c.1851A>T (p.Lys617Asn) | |
6 | g.129314700T>A | CA365612268 | LAMA2 | c.3457T>A (p.Phe1153Ile) c.3721T>A (p.Phe1241Ile) c.3727T>A (p.Phe1243Ile) c.1852T>A (p.Phe618Ile) | |
6 | g.129314700T>C | CA365612269 | LAMA2 | c.3457T>C (p.Phe1153Leu) c.3721T>C (p.Phe1241Leu) c.3727T>C (p.Phe1243Leu) c.1852T>C (p.Phe618Leu) | |
6 | g.129314700T>G | CA365612270 | LAMA2 | c.3457T>G (p.Phe1153Val) c.3721T>G (p.Phe1241Val) c.3727T>G (p.Phe1243Val) c.1852T>G (p.Phe618Val) | |
6 | g.129314701T>A | CA365612271 | LAMA2 | c.3458T>A (p.Phe1153Tyr) c.3722T>A (p.Phe1241Tyr) c.3728T>A (p.Phe1243Tyr) c.1853T>A (p.Phe618Tyr) | |
6 | g.129314701T>C | CA365612272 | LAMA2 | c.3458T>C (p.Phe1153Ser) c.3722T>C (p.Phe1241Ser) c.3728T>C (p.Phe1243Ser) c.1853T>C (p.Phe618Ser) | |
6 | g.129314701T>G | CA365612273 | LAMA2 | c.3458T>G (p.Phe1153Cys) c.3722T>G (p.Phe1241Cys) c.3728T>G (p.Phe1243Cys) c.1853T>G (p.Phe618Cys) | |
6 | g.129314702C>A | CA365612274 | LAMA2 | c.3459C>A (p.Phe1153Leu) c.3723C>A (p.Phe1241Leu) c.3729C>A (p.Phe1243Leu) c.1854C>A (p.Phe618Leu) | |
6 | g.129314702C= | CA1663078491 | LAMA2 | c.3459C= (p.Phe1153=) c.3723C= (p.Phe1241=) c.3729C= (p.Phe1243=) c.1854C= (p.Phe618=) | |
6 | g.129314702C>G | CA365612275 | LAMA2 | c.3459C>G (p.Phe1153Leu) c.3723C>G (p.Phe1241Leu) c.3729C>G (p.Phe1243Leu) c.1854C>G (p.Phe618Leu) | |
6 | g.129314702C>T | CA451936625 | LAMA2 | c.3459C>T (p.Phe1153=) c.3723C>T (p.Phe1241=) c.3729C>T (p.Phe1243=) c.1854C>T (p.Phe618=) | dbSNP COSMIC |
6 | g.129314703G>A | CA3993266 | LAMA2 | c.3460G>A (p.Gly1154Arg) c.3724G>A (p.Gly1242Arg) c.3730G>A (p.Gly1244Arg) c.1855G>A (p.Gly619Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
6 | g.129314703G>C | CA365612276 | LAMA2 | c.3460G>C (p.Gly1154Arg) c.3724G>C (p.Gly1242Arg) c.3730G>C (p.Gly1244Arg) c.1855G>C (p.Gly619Arg) | |
6 | g.129314703G= | CA1663078499 | LAMA2 | c.3460G= (p.Gly1154=) c.3724G= (p.Gly1242=) c.3730G= (p.Gly1244=) c.1855G= (p.Gly619=) | |
6 | g.129314703G>T | CA365612277 | LAMA2 | c.3460G>T (p.Gly1154Ter) c.3724G>T (p.Gly1242Ter) c.3730G>T (p.Gly1244Ter) c.1855G>T (p.Gly619Ter) | |
6 | g.129314704G>A | CA365612278 | LAMA2 | c.3461G>A (p.Gly1154Glu) c.3725G>A (p.Gly1242Glu) c.3731G>A (p.Gly1244Glu) c.1856G>A (p.Gly619Glu) | |
6 | g.129314704G>C | CA365612279 | LAMA2 | c.3461G>C (p.Gly1154Ala) c.3725G>C (p.Gly1242Ala) c.3731G>C (p.Gly1244Ala) c.1856G>C (p.Gly619Ala) | |
6 | g.129314704G= | CA1663078503 | LAMA2 | c.3461G= (p.Gly1154=) c.3725G= (p.Gly1242=) c.3731G= (p.Gly1244=) c.1856G= (p.Gly619=) | |
6 | g.129314704G>T | CA146913380 | LAMA2 | c.3461G>T (p.Gly1154Val) c.3725G>T (p.Gly1242Val) c.3731G>T (p.Gly1244Val) c.1856G>T (p.Gly619Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129314705A>C | CA451936626 | LAMA2 | c.3462A>C (p.Gly1154=) c.3726A>C (p.Gly1242=) c.3732A>C (p.Gly1244=) c.1857A>C (p.Gly619=) | |
6 | g.129314705A>G | CA451936627 | LAMA2 | c.3462A>G (p.Gly1154=) c.3726A>G (p.Gly1242=) c.3732A>G (p.Gly1244=) c.1857A>G (p.Gly619=) | ClinVar |
6 | g.129314705A>T | CA451936628 | LAMA2 | c.3462A>T (p.Gly1154=) c.3726A>T (p.Gly1242=) c.3732A>T (p.Gly1244=) c.1857A>T (p.Gly619=) | |
6 | g.129314706C>A | CA365612280 | LAMA2 | c.3463C>A (p.Leu1155Ile) c.3727C>A (p.Leu1243Ile) c.3733C>A (p.Leu1245Ile) c.1858C>A (p.Leu620Ile) | |
6 | g.129314706C>G | CA365612281 | LAMA2 | c.3463C>G (p.Leu1155Val) c.3727C>G (p.Leu1243Val) c.3733C>G (p.Leu1245Val) c.1858C>G (p.Leu620Val) | |
6 | g.129314706C>T | CA365612282 | LAMA2 | c.3463C>T (p.Leu1155Phe) c.3727C>T (p.Leu1243Phe) c.3733C>T (p.Leu1245Phe) c.1858C>T (p.Leu620Phe) | |
6 | g.129314707T>A | CA365612283 | LAMA2 | c.3464T>A (p.Leu1155His) c.3728T>A (p.Leu1243His) c.3734T>A (p.Leu1245His) c.1859T>A (p.Leu620His) | |
6 | g.129314707T>C | CA365612284 | LAMA2 | c.3464T>C (p.Leu1155Pro) c.3728T>C (p.Leu1243Pro) c.3734T>C (p.Leu1245Pro) c.1859T>C (p.Leu620Pro) | |
6 | g.129314707T>G | CA365612285 | LAMA2 | c.3464T>G (p.Leu1155Arg) c.3728T>G (p.Leu1243Arg) c.3734T>G (p.Leu1245Arg) c.1859T>G (p.Leu620Arg) | |
6 | g.129314708C>A | CA451936629 | LAMA2 | c.3465C>A (p.Leu1155=) c.3729C>A (p.Leu1243=) c.3735C>A (p.Leu1245=) c.1860C>A (p.Leu620=) | |
6 | g.129314708C= | CA1663078510 | LAMA2 | c.3465C= (p.Leu1155=) c.3729C= (p.Leu1243=) c.3735C= (p.Leu1245=) c.1860C= (p.Leu620=) | |
6 | g.129314708C>G | CA451936630 | LAMA2 | c.3465C>G (p.Leu1155=) c.3729C>G (p.Leu1243=) c.3735C>G (p.Leu1245=) c.1860C>G (p.Leu620=) | |
6 | g.129314708C>T | CA3993267 | LAMA2 | c.3465C>T (p.Leu1155=) c.3729C>T (p.Leu1243=) c.3735C>T (p.Leu1245=) c.1860C>T (p.Leu620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129314709G>A | CA3993268 | LAMA2 | c.3466G>A (p.Asp1156Asn) c.3730G>A (p.Asp1244Asn) c.3736G>A (p.Asp1246Asn) c.1861G>A (p.Asp621Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129314709G>C | CA365612287 | LAMA2 | c.3466G>C (p.Asp1156His) c.3730G>C (p.Asp1244His) c.3736G>C (p.Asp1246His) c.1861G>C (p.Asp621His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129314709G= | CA1663078515 | LAMA2 | c.3466G= (p.Asp1156=) c.3730G= (p.Asp1244=) c.3736G= (p.Asp1246=) c.1861G= (p.Asp621=) | |
6 | g.129314709G>T | CA365612286 | LAMA2 | c.3466G>T (p.Asp1156Tyr) c.3730G>T (p.Asp1244Tyr) c.3736G>T (p.Asp1246Tyr) c.1861G>T (p.Asp621Tyr) | ClinVar dbSNP |
6 | g.129314710A>C | CA365612288 | LAMA2 | c.3467A>C (p.Asp1156Ala) c.3731A>C (p.Asp1244Ala) c.3737A>C (p.Asp1246Ala) c.1862A>C (p.Asp621Ala) | |
6 | g.129314710A>G | CA365612290 | LAMA2 | c.3467A>G (p.Asp1156Gly) c.3731A>G (p.Asp1244Gly) c.3737A>G (p.Asp1246Gly) c.1862A>G (p.Asp621Gly) | |
6 | g.129314710A>T | CA365612289 | LAMA2 | c.3467A>T (p.Asp1156Val) c.3731A>T (p.Asp1244Val) c.3737A>T (p.Asp1246Val) c.1862A>T (p.Asp621Val) | ClinVar |
6 | g.129314711T>A | CA365612291 | LAMA2 | c.3468T>A (p.Asp1156Glu) c.3732T>A (p.Asp1244Glu) c.3738T>A (p.Asp1246Glu) c.1863T>A (p.Asp621Glu) | |
6 | g.129314711T>C | CA3993269 | LAMA2 | c.3468T>C (p.Asp1156=) c.3732T>C (p.Asp1244=) c.3738T>C (p.Asp1246=) c.1863T>C (p.Asp621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129314711T>G | CA365612292 | LAMA2 | c.3468T>G (p.Asp1156Glu) c.3732T>G (p.Asp1244Glu) c.3738T>G (p.Asp1246Glu) c.1863T>G (p.Asp621Glu) | |
6 | g.129314711T= | CA1663078532 | LAMA2 | c.3468T= (p.Asp1156=) c.3732T= (p.Asp1244=) c.3738T= (p.Asp1246=) c.1863T= (p.Asp621=) | |
6 | g.129314712G>A | CA3993270 | LAMA2 | c.3469G>A (p.Ala1157Thr) c.3733G>A (p.Ala1245Thr) c.3739G>A (p.Ala1247Thr) c.1864G>A (p.Ala622Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129314712G>C | CA365612293 | LAMA2 | c.3469G>C (p.Ala1157Pro) c.3733G>C (p.Ala1245Pro) c.3739G>C (p.Ala1247Pro) c.1864G>C (p.Ala622Pro) | |
6 | g.129314712G= | CA1663078539 | LAMA2 | c.3469G= (p.Ala1157=) c.3733G= (p.Ala1245=) c.3739G= (p.Ala1247=) c.1864G= (p.Ala622=) | |
6 | g.129314712G>T | CA365612294 | LAMA2 | c.3469G>T (p.Ala1157Ser) c.3733G>T (p.Ala1245Ser) c.3739G>T (p.Ala1247Ser) c.1864G>T (p.Ala622Ser) | gnomAD v3 gnomAD v4 COSMIC |
6 | g.129314713C>A | CA365612295 | LAMA2 | c.3470C>A (p.Ala1157Asp) c.3734C>A (p.Ala1245Asp) c.3740C>A (p.Ala1247Asp) c.1865C>A (p.Ala622Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |