Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49130816G>A | CA433636247 | LAMB2 | c.960C>T (p.Asn320=) | |
3 | g.49130816G>C | CA352745357 | LAMB2 | c.960C>G (p.Asn320Lys) | |
3 | g.49130816G>T | CA352745360 | LAMB2 | c.960C>A (p.Asn320Lys) | |
3 | g.49130817T>A | CA352745363 | LAMB2 | c.959A>T (p.Asn320Ile) | |
3 | g.49130817T>C | CA352745364 | LAMB2 | c.959A>G (p.Asn320Ser) | dbSNP |
3 | g.49130817T>G | CA352745366 | LAMB2 | c.959A>C (p.Asn320Thr) | |
3 | g.49130817T= | CA1363342694 | LAMB2 | c.959A= (p.Asn320=) | |
3 | g.49130818T>A | CA352745370 | LAMB2 | c.958A>T (p.Asn320Tyr) | |
3 | g.49130818T>C | CA352745373 | LAMB2 | c.958A>G (p.Asn320Asp) | |
3 | g.49130818T>G | CA352745377 | LAMB2 | c.958A>C (p.Asn320His) | |
3 | g.49130819G>A | CA433636248 | LAMB2 | c.957C>T (p.Leu319=) | |
3 | g.49130819G>C | CA433636249 | LAMB2 | c.957C>G (p.Leu319=) | gnomAD v4 |
3 | g.49130819G= | CA1363342695 | LAMB2 | c.957C= (p.Leu319=) | |
3 | g.49130819G>T | CA433636250 | LAMB2 | c.957C>A (p.Leu319=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130820A= | CA1363342696 | LAMB2 | c.956T= (p.Leu319=) | |
3 | g.49130820A>C | CA352745387 | LAMB2 | c.956T>G (p.Leu319Arg) | |
3 | g.49130820A>G | CA352745391 | LAMB2 | c.956T>C (p.Leu319Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49130820A>T | CA352745396 | LAMB2 | c.956T>A (p.Leu319His) | |
3 | g.49130821G>A | CA74488060 | LAMB2 | c.955C>T (p.Leu319Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130821G>C | CA352745420 | LAMB2 | c.955C>G (p.Leu319Val) | |
3 | g.49130821G= | CA1363342697 | LAMB2 | c.955C= (p.Leu319=) | |
3 | g.49130821G>T | CA352745417 | LAMB2 | c.955C>A (p.Leu319Ile) | |
3 | g.49130822G>A | CA433636251 | LAMB2 | c.954C>T (p.Gly318=) | gnomAD v4 |
3 | g.49130822G>C | CA433636252 | LAMB2 | c.954C>G (p.Gly318=) | |
3 | g.49130822G>T | CA433636253 | LAMB2 | c.954C>A (p.Gly318=) | |
3 | g.49130823C>A | CA352745435 | LAMB2 | c.953G>T (p.Gly318Val) | |
3 | g.49130823C= | CA1363342698 | LAMB2 | c.953G= (p.Gly318=) | |
3 | g.49130823C>G | CA2394740 | LAMB2 | c.953G>C (p.Gly318Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49130823C>T | CA352745441 | LAMB2 | c.953G>A (p.Gly318Asp) | |
3 | g.49130824C>A | CA352745478 | LAMB2 | c.952G>T (p.Gly318Cys) | COSMIC |
3 | g.49130824C>G | CA352745488 | LAMB2 | c.952G>C (p.Gly318Arg) | |
3 | g.49130824C>T | CA352745489 | LAMB2 | c.952G>A (p.Gly318Ser) | |
3 | g.49130825A= | CA1363342699 | LAMB2 | c.951T= (p.Arg317=) | |
3 | g.49130825A>C | CA433636254 | LAMB2 | c.951T>G (p.Arg317=) | |
3 | g.49130825A>G | CA433636255 | LAMB2 | c.951T>C (p.Arg317=) | |
3 | g.49130825A>T | CA2394741 | LAMB2 | c.951T>A (p.Arg317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130826C>A | CA352745507 | LAMB2 | c.950G>T (p.Arg317Leu) | gnomAD v4 |
3 | g.49130826C= | CA1363342700 | LAMB2 | c.950G= (p.Arg317=) | |
3 | g.49130826C>G | CA352745510 | LAMB2 | c.950G>C (p.Arg317Pro) | |
3 | g.49130826C>T | CA2394742 | LAMB2 | c.950G>A (p.Arg317His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.49130827G>A | CA352745529 | LAMB2 | c.949C>T (p.Arg317Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130827G>C | CA352745526 | LAMB2 | c.949C>G (p.Arg317Gly) | |
3 | g.49130827G= | CA1363342701 | LAMB2 | c.949C= (p.Arg317=) | |
3 | g.49130827G>T | CA2394743 | LAMB2 | c.949C>A (p.Arg317Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130828T>A | CA2394745 | LAMB2 | c.948A>T (p.Thr316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130828T>C | CA74488117 | LAMB2 | c.948A>G (p.Thr316=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49130828T>G | CA2394744 | LAMB2 | c.948A>C (p.Thr316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130828T= | CA1363342702 | LAMB2 | c.948A= (p.Thr316=) | |
3 | g.49130829G>A | CA352745558 | LAMB2 | c.947C>T (p.Thr316Ile) | dbSNP |
3 | g.49130829G>C | CA352745573 | LAMB2 | c.947C>G (p.Thr316Arg) |