Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209630646C>A | CA423032426 | LAMB3 | c.912G>T (p.Pro304=) c.720G>T (p.Pro240=) | ClinVar dbSNP gnomAD v4 |
1 | g.209630646C= | CA1143832051 | LAMB3 | c.912G= (p.Pro304=) c.720G= (p.Pro240=) | |
1 | g.209630646C>G | CA423032427 | LAMB3 | c.912G>C (p.Pro304=) c.720G>C (p.Pro240=) | gnomAD v4 |
1 | g.209630646C>T | CA1375787 | LAMB3 | c.912G>A (p.Pro304=) c.720G>A (p.Pro240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630647G>A | CA1375788 | LAMB3 | c.911C>T (p.Pro304Leu) c.719C>T (p.Pro240Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209630647G>C | CA344593417 | LAMB3 | c.911C>G (p.Pro304Arg) c.719C>G (p.Pro240Arg) | |
1 | g.209630647G= | CA1141399481 | LAMB3 | c.911C= (p.Pro304=) c.719C= (p.Pro240=) | |
1 | g.209630647G>T | CA344593420 | LAMB3 | c.911C>A (p.Pro304Gln) c.719C>A (p.Pro240Gln) | gnomAD v4 |
1 | g.209630648G>A | CA1375789 | LAMB3 | c.910C>T (p.Pro304Ser) c.718C>T (p.Pro240Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630648G>C | CA344593425 | LAMB3 | c.910C>G (p.Pro304Ala) c.718C>G (p.Pro240Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630648G= | CA2484301188 | LAMB3 | c.910C= (p.Pro304=) c.718C= (p.Pro240=) | |
1 | g.209630648G>T | CA344593422 | LAMB3 | c.910C>A (p.Pro304Thr) c.718C>A (p.Pro240Thr) | |
1 | g.209630649T>A | CA344593428 | LAMB3 | c.909A>T (p.Arg303Ser) c.717A>T (p.Arg239Ser) | |
1 | g.209630649T>C | CA423032428 | LAMB3 | c.909A>G (p.Arg303=) c.717A>G (p.Arg239=) | |
1 | g.209630649T>G | CA344593431 | LAMB3 | c.909A>C (p.Arg303Ser) c.717A>C (p.Arg239Ser) | |
1 | g.209630650C>A | CA344593433 | LAMB3 | c.908G>T (p.Arg303Ile) c.716G>T (p.Arg239Ile) | |
1 | g.209630650C>G | CA344593435 | LAMB3 | c.908G>C (p.Arg303Thr) c.716G>C (p.Arg239Thr) | |
1 | g.209630650C>T | CA344593436 | LAMB3 | c.908G>A (p.Arg303Lys) c.716G>A (p.Arg239Lys) | |
1 | g.209630651T>A | CA344593439 | LAMB3 | c.907A>T (p.Arg303Ter) c.715A>T (p.Arg239Ter) | |
1 | g.209630651T>C | CA344593441 | LAMB3 | c.907A>G (p.Arg303Gly) c.715A>G (p.Arg239Gly) | gnomAD v4 |
1 | g.209630651T>G | CA423032429 | LAMB3 | c.907A>C (p.Arg303=) c.715A>C (p.Arg239=) | gnomAD v4 |
1 | g.209630652C>A | CA344593444 | LAMB3 | c.906G>T (p.Trp302Cys) c.714G>T (p.Trp238Cys) | |
1 | g.209630652C>G | CA344593446 | LAMB3 | c.906G>C (p.Trp302Cys) c.714G>C (p.Trp238Cys) | |
1 | g.209630652C>T | CA344593449 | LAMB3 | c.906G>A (p.Trp302Ter) c.714G>A (p.Trp238Ter) | ClinVar |
1 | g.209630653C>A | CA344593452 | LAMB3 | c.905G>T (p.Trp302Leu) c.713G>T (p.Trp238Leu) | |
1 | g.209630653C>G | CA344593454 | LAMB3 | c.905G>C (p.Trp302Ser) c.713G>C (p.Trp238Ser) | |
1 | g.209630653C>T | CA344593457 | LAMB3 | c.905G>A (p.Trp302Ter) c.713G>A (p.Trp238Ter) | |
1 | g.209630653_209630654delinsCA | CA2484301189 | LAMB3 | c.904_905delinsTG (p.Trp302=) c.712_713delinsTG (p.Trp238=) | |
1 | g.209630654del | CA257274 | LAMB3 | c.904del (p.Trp302GlyfsTer?) c.712del (p.Trp238GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.209630654A= | CA2484301190 | LAMB3 | c.904T= (p.Trp302=) c.712T= (p.Trp238=) | |
1 | g.209630654A>C | CA344593463 | LAMB3 | c.904T>G (p.Trp302Gly) c.712T>G (p.Trp238Gly) | |
1 | g.209630654A>G | CA344593472 | LAMB3 | c.904T>C (p.Trp302Arg) c.712T>C (p.Trp238Arg) | |
1 | g.209630654A>T | CA344593468 | LAMB3 | c.904T>A (p.Trp302Arg) c.712T>A (p.Trp238Arg) | |
1 | g.209630655G>A | CA423032430 | LAMB3 | c.903C>T (p.Pro301=) c.711C>T (p.Pro237=) | ClinVar |
1 | g.209630655G>C | CA423032431 | LAMB3 | c.903C>G (p.Pro301=) c.711C>G (p.Pro237=) | |
1 | g.209630655G= | CA2484301191 | LAMB3 | c.903C= (p.Pro301=) c.711C= (p.Pro237=) | |
1 | g.209630655G>T | CA423032432 | LAMB3 | c.903C>A (p.Pro301=) c.711C>A (p.Pro237=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630657dup | CA528652861 | LAMB3 | c.903dup (p.Trp302LeufsTer11) c.711dup (p.Trp238LeufsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630656G>A | CA36758881 | LAMB3 | c.902C>T (p.Pro301Leu) c.710C>T (p.Pro237Leu) | dbSNP gnomAD v4 |
1 | g.209630656G>C | CA344593476 | LAMB3 | c.902C>G (p.Pro301Arg) c.710C>G (p.Pro237Arg) | |
1 | g.209630656G= | CA1148092501 | LAMB3 | c.902C= (p.Pro301=) c.710C= (p.Pro237=) | |
1 | g.209630656G>T | CA344593478 | LAMB3 | c.902C>A (p.Pro301His) c.710C>A (p.Pro237His) | |
1 | g.209630657G>A | CA344593482 | LAMB3 | c.901C>T (p.Pro301Ser) c.709C>T (p.Pro237Ser) | |
1 | g.209630657G>C | CA344593484 | LAMB3 | c.901C>G (p.Pro301Ala) c.709C>G (p.Pro237Ala) | |
1 | g.209630657G>T | CA344593487 | LAMB3 | c.901C>A (p.Pro301Thr) c.709C>A (p.Pro237Thr) | |
1 | g.209630658C>A | CA423032433 | LAMB3 | c.900G>T (p.Arg300=) c.708G>T (p.Arg236=) | |
1 | g.209630658C= | CA2484301192 | LAMB3 | c.900G= (p.Arg300=) c.708G= (p.Arg236=) | |
1 | g.209630658C>G | CA423032434 | LAMB3 | c.900G>C (p.Arg300=) c.708G>C (p.Arg236=) | |
1 | g.209630658C>T | CA423032435 | LAMB3 | c.900G>A (p.Arg300=) c.708G>A (p.Arg236=) | dbSNP gnomAD v4 |
1 | g.209630659C>A | CA344593491 | LAMB3 | c.899G>T (p.Arg300Leu) c.707G>T (p.Arg236Leu) | gnomAD v4 |