| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49131128C>A | CA352748373 | LAMB2 | c.737G>T (p.Arg246Leu) c.290G>T (p.Arg97Leu) | gnomAD v4 |
| 3 | g.49131128C= | CA1363342846 | LAMB2 | c.737G= (p.Arg246=) c.290G= (p.Arg97=) | |
| 3 | g.49131128C>G | CA352748377 | LAMB2 | c.737G>C (p.Arg246Pro) c.290G>C (p.Arg97Pro) | |
| 3 | g.49131128C>T | CA124112 | LAMB2 | c.737G>A (p.Arg246Gln) c.290G>A (p.Arg97Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49131129G>A | CA124107 | LAMB2 | c.736C>T (p.Arg246Trp) c.289C>T (p.Arg97Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49131129G>C | CA352748394 | LAMB2 | c.736C>G (p.Arg246Gly) c.289C>G (p.Arg97Gly) | |
| 3 | g.49131129G= | CA1363342847 | LAMB2 | c.736C= (p.Arg246=) c.289C= (p.Arg97=) | |
| 3 | g.49131129G>T | CA433835540 | LAMB2 | c.736C>A (p.Arg246=) c.289C>A (p.Arg97=) | |
| 3 | g.49131130T>A | CA433835542 | LAMB2 | c.735A>T (p.Leu245=) c.288A>T (p.Leu96=) | COSMIC |
| 3 | g.49131130T>C | CA433835543 | LAMB2 | c.735A>G (p.Leu245=) c.288A>G (p.Leu96=) | |
| 3 | g.49131130T>G | CA433835544 | LAMB2 | c.735A>C (p.Leu245=) c.288A>C (p.Leu96=) | |
| 3 | g.49131131A>C | CA352748395 | LAMB2 | c.734T>G (p.Leu245Arg) c.287T>G (p.Leu96Arg) | |
| 3 | g.49131131A>G | CA352748396 | LAMB2 | c.734T>C (p.Leu245Pro) c.287T>C (p.Leu96Pro) | |
| 3 | g.49131131A>T | CA352748397 | LAMB2 | c.734T>A (p.Leu245Gln) c.287T>A (p.Leu96Gln) | |
| 3 | g.49131132G>A | CA433835545 | LAMB2 | c.733C>T (p.Leu245=) c.286C>T (p.Leu96=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49131132G>C | CA352748401 | LAMB2 | c.733C>G (p.Leu245Val) c.286C>G (p.Leu96Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49131132G= | CA1363342848 | LAMB2 | c.733C= (p.Leu245=) c.286C= (p.Leu96=) | |
| 3 | g.49131132G>T | CA352748406 | LAMB2 | c.733C>A (p.Leu245Ile) c.286C>A (p.Leu96Ile) | |
| 3 | g.49131132_49131137del | CA2566646505 | LAMB2 | c.728_733del (p.Thr243_Leu245delinsIle) c.281_286del (p.Thr94_Leu96delinsIle) | gnomAD v3 gnomAD v4 |
| 3 | g.49131133G>A | CA433835547 | LAMB2 | c.732C>T (p.Asn244=) c.285C>T (p.Asn95=) | |
| 3 | g.49131133G>C | CA352748418 | LAMB2 | c.732C>G (p.Asn244Lys) c.285C>G (p.Asn95Lys) | |
| 3 | g.49131133G>T | CA352748435 | LAMB2 | c.732C>A (p.Asn244Lys) c.285C>A (p.Asn95Lys) | |
| 3 | g.49131134T>A | CA352748458 | LAMB2 | c.731A>T (p.Asn244Ile) c.284A>T (p.Asn95Ile) | |
| 3 | g.49131134T>C | CA352748469 | LAMB2 | c.731A>G (p.Asn244Ser) c.284A>G (p.Asn95Ser) | |
| 3 | g.49131134T>G | CA352748470 | LAMB2 | c.731A>C (p.Asn244Thr) c.284A>C (p.Asn95Thr) | ClinVar |
| 3 | g.49131135T>A | CA352748487 | LAMB2 | c.730A>T (p.Asn244Tyr) c.283A>T (p.Asn95Tyr) | |
| 3 | g.49131135T>C | CA352748474 | LAMB2 | c.730A>G (p.Asn244Asp) c.283A>G (p.Asn95Asp) | |
| 3 | g.49131135T>G | CA352748472 | LAMB2 | c.730A>C (p.Asn244His) c.283A>C (p.Asn95His) | |
| 3 | g.49131136G>A | CA433835560 | LAMB2 | c.729C>T (p.Thr243=) c.282C>T (p.Thr94=) | |
| 3 | g.49131136G>C | CA433835562 | LAMB2 | c.729C>G (p.Thr243=) c.282C>G (p.Thr94=) | |
| 3 | g.49131136G>T | CA433835558 | LAMB2 | c.729C>A (p.Thr243=) c.282C>A (p.Thr94=) | |
| 3 | g.49131137G>A | CA352748492 | LAMB2 | c.728C>T (p.Thr243Ile) c.281C>T (p.Thr94Ile) | |
| 3 | g.49131137G>C | CA352748494 | LAMB2 | c.728C>G (p.Thr243Ser) c.281C>G (p.Thr94Ser) | gnomAD v4 |
| 3 | g.49131137G>T | CA352748497 | LAMB2 | c.728C>A (p.Thr243Asn) c.281C>A (p.Thr94Asn) | |
| 3 | g.49131138T>A | CA352748501 | LAMB2 | c.727A>T (p.Thr243Ser) c.280A>T (p.Thr94Ser) | |
| 3 | g.49131138T>C | CA352748503 | LAMB2 | c.727A>G (p.Thr243Ala) c.280A>G (p.Thr94Ala) | |
| 3 | g.49131138T>G | CA352748507 | LAMB2 | c.727A>C (p.Thr243Pro) c.280A>C (p.Thr94Pro) | |
| 3 | g.49131138_49131139insCATTAAAA | CA2525235019 | LAMB2 | c.726_727insTTTTAATG (p.Thr243PhefsTer2) c.279_280insTTTTAATG (p.Thr94PhefsTer2) | gnomAD v3 gnomAD v4 |
| 3 | g.49131139G>A | CA2394808 | LAMB2 | c.726C>T (p.Ile242=) c.279C>T (p.Ile93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49131139G>C | CA352748533 | LAMB2 | c.726C>G (p.Ile242Met) c.279C>G (p.Ile93Met) | dbSNP |
| 3 | g.49131139G= | CA1363342849 | LAMB2 | c.726C= (p.Ile242=) c.279C= (p.Ile93=) | |
| 3 | g.49131139G>T | CA433835568 | LAMB2 | c.726C>A (p.Ile242=) c.279C>A (p.Ile93=) | |
| 3 | g.49131140A>C | CA352748537 | LAMB2 | c.725T>G (p.Ile242Ser) c.278T>G (p.Ile93Ser) | |
| 3 | g.49131140A>G | CA352748539 | LAMB2 | c.725T>C (p.Ile242Thr) c.278T>C (p.Ile93Thr) | |
| 3 | g.49131140A>T | CA352748545 | LAMB2 | c.725T>A (p.Ile242Asn) c.278T>A (p.Ile93Asn) | |
| 3 | g.49131141T>A | CA352748549 | LAMB2 | c.724A>T (p.Ile242Phe) c.277A>T (p.Ile93Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49131141T>C | CA352748547 | LAMB2 | c.724A>G (p.Ile242Val) c.277A>G (p.Ile93Val) | |
| 3 | g.49131141T>G | CA352748546 | LAMB2 | c.724A>C (p.Ile242Leu) c.277A>C (p.Ile93Leu) | |
| 3 | g.49131141T= | CA1363342850 | LAMB2 | c.724A= (p.Ile242=) c.277A= (p.Ile93=) | |
| 3 | g.49131142C>A | CA352748557 | LAMB2 | c.723G>T (p.Lys241Asn) c.276G>T (p.Lys92Asn) | dbSNP |