Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209632929A= | CA2484302092 | LAMB3 | c.628+141T= (n.628+141T=) c.436+141T= (n.436+141T=) | |
1 | g.209632929A>C | CA2650322246 | LAMB3 | c.628+141T>G (n.628+141T>G) c.436+141T>G (n.436+141T>G) | gnomAD v4 |
1 | g.209632929A>G | CA730835727 | LAMB3 | c.628+141T>C (n.628+141T>C) c.436+141T>C (n.436+141T>C) | dbSNP gnomAD v4 |
1 | g.209632930del | CA2650322248 | LAMB3 | c.628+140del (n.628+140del) c.436+140del (n.436+140del) | gnomAD v4 |
1 | g.209632930T>C | CA2650322249 | LAMB3 | c.628+140A>G (n.628+140A>G) c.436+140A>G (n.436+140A>G) | gnomAD v4 |
1 | g.209632930_209632931delinsTG | CA2484302093 | LAMB3 | c.628+139_628+140delinsCA (n.628+139_628+140delinsCA) c.436+139_436+140delinsCA (n.436+139_436+140delinsCA) | |
1 | g.209632931G>A | CA2650322250 | LAMB3 | c.628+139C>T (n.628+139C>T) c.436+139C>T (n.436+139C>T) | gnomAD v4 |
1 | g.209632931_209632934delinsGGGG | CA1141839189 | LAMB3 | c.628+136_628+139delinsCCCC (n.628+136_628+139delinsCCCC) c.436+136_436+139delinsCCCC (n.436+136_436+139delinsCCCC) | |
1 | g.209632934del | CA36759831 | LAMB3 | c.628+139del (n.628+139del) c.436+139del (n.436+139del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632932G>A | CA2650322252 | LAMB3 | c.628+138C>T (n.628+138C>T) c.436+138C>T (n.436+138C>T) | gnomAD v4 |
1 | g.209632932G>C | CA36759834 | LAMB3 | c.628+138C>G (n.628+138C>G) c.436+138C>G (n.436+138C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632932G= | CA1148263634 | LAMB3 | c.628+138C= (n.628+138C=) c.436+138C= (n.436+138C=) | |
1 | g.209632932G>T | CA2650322251 | LAMB3 | c.628+138C>A (n.628+138C>A) c.436+138C>A (n.436+138C>A) | gnomAD v4 |
1 | g.209632939_209632947del | CA2650322253 | LAMB3 | c.628+130_628+138del (n.628+130_628+138del) c.436+130_436+138del (n.436+130_436+138del) | gnomAD v4 |
1 | g.209632933G>A | CA2650322255 | LAMB3 | c.628+137C>T (n.628+137C>T) c.436+137C>T (n.436+137C>T) | gnomAD v4 |
1 | g.209632933G>C | CA1011769619 | LAMB3 | c.628+137C>G (n.628+137C>G) c.436+137C>G (n.436+137C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632933G= | CA2484302094 | LAMB3 | c.628+137C= (n.628+137C=) c.436+137C= (n.436+137C=) | |
1 | g.209632934G>A | CA2650322258 | LAMB3 | c.628+136C>T (n.628+136C>T) c.436+136C>T (n.436+136C>T) | gnomAD v4 |
1 | g.209632934G= | CA2484302095 | LAMB3 | c.628+136C= (n.628+136C=) c.436+136C= (n.436+136C=) | |
1 | g.209632934G>T | CA1011769623 | LAMB3 | c.628+136C>A (n.628+136C>A) c.436+136C>A (n.436+136C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632935C>A | CA2650322259 | LAMB3 | c.628+135G>T (n.628+135G>T) c.436+135G>T (n.436+135G>T) | gnomAD v4 |
1 | g.209632937A>G | CA2650322260 | LAMB3 | c.628+133T>C (n.628+133T>C) c.436+133T>C (n.436+133T>C) | gnomAD v4 |
1 | g.209632937_209632938insAGGAGTATGTCTCATGGGCCCTGACAGATGACACACTCCCTGAGCTGGCCTCCCTCTGTACACCTCT | CA2650322262 | LAMB3 | c.628+132_628+133insAGAGGTGTACAGAGGGAGGCCAGCTCAGGGAGTGTGTCATCTGTCAGGGCCCATGAGACATACTCCT (n.628+132_628+133insAGAGGTGTACAGAGGGAGGCCAGCTCAGGGAGTGTGTCATCTGTCAGGGCCCATGAGACATACTCCT) c.436+132_436+133insAGAGGTGTACAGAGGGAGGCCAGCTCAGGGAGTGTGTCATCTGTCAGGGCCCATGAGACATACTCCT (n.436+132_436+133insAGAGGTGTACAGAGGGAGGCCAGCTCAGGGAGTGTGTCATCTGTCAGGGCCCATGAGACATACTCCT) | gnomAD v4 |
1 | g.209632938G>A | CA1011769625 | LAMB3 | c.628+132C>T (n.628+132C>T) c.436+132C>T (n.436+132C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632938G= | CA2484302096 | LAMB3 | c.628+132C= (n.628+132C=) c.436+132C= (n.436+132C=) | |
1 | g.209632938G>T | CA2650322263 | LAMB3 | c.628+132C>A (n.628+132C>A) c.436+132C>A (n.436+132C>A) | gnomAD v4 |
1 | g.209632939C>T | CA2650322265 | LAMB3 | c.628+131G>A (n.628+131G>A) c.436+131G>A (n.436+131G>A) | gnomAD v4 |
1 | g.209632941G>A | CA36759836 | LAMB3 | c.628+129C>T (n.628+129C>T) c.436+129C>T (n.436+129C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632941G= | CA1146273292 | LAMB3 | c.628+129C= (n.628+129C=) c.436+129C= (n.436+129C=) | |
1 | g.209632941G>T | CA2650322269 | LAMB3 | c.628+129C>A (n.628+129C>A) c.436+129C>A (n.436+129C>A) | gnomAD v4 |
1 | g.209632942G>A | CA2484302098 | LAMB3 | c.628+128C>T (n.628+128C>T) c.436+128C>T (n.436+128C>T) | dbSNP gnomAD v4 |
1 | g.209632942G= | CA2484302097 | LAMB3 | c.628+128C= (n.628+128C=) c.436+128C= (n.436+128C=) | |
1 | g.209632943G>A | CA528652930 | LAMB3 | c.628+127C>T (n.628+127C>T) c.436+127C>T (n.436+127C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632943G= | CA2484302099 | LAMB3 | c.628+127C= (n.628+127C=) c.436+127C= (n.436+127C=) | |
1 | g.209632943G>T | CA2650322273 | LAMB3 | c.628+127C>A (n.628+127C>A) c.436+127C>A (n.436+127C>A) | gnomAD v4 |
1 | g.209632944C>A | CA2650322275 | LAMB3 | c.628+126G>T (n.628+126G>T) c.436+126G>T (n.436+126G>T) | gnomAD v4 |
1 | g.209632944C>T | CA2697962108 | LAMB3 | c.628+126G>A (n.628+126G>A) c.436+126G>A (n.436+126G>A) | dbSNP |
1 | g.209632945A>C | CA2747563288 | LAMB3 | c.628+125T>G (n.628+125T>G) c.436+125T>G (n.436+125T>G) | |
1 | g.209632945A>G | CA2650322276 | LAMB3 | c.628+125T>C (n.628+125T>C) c.436+125T>C (n.436+125T>C) | gnomAD v4 |
1 | g.209632947G>A | CA36759840 | LAMB3 | c.628+123C>T (n.628+123C>T) c.436+123C>T (n.436+123C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632947G= | CA2484302100 | LAMB3 | c.628+123C= (n.628+123C=) c.436+123C= (n.436+123C=) | |
1 | g.209632947G>T | CA2650322279 | LAMB3 | c.628+123C>A (n.628+123C>A) c.436+123C>A (n.436+123C>A) | gnomAD v4 |
1 | g.209632951C>A | CA2650322281 | LAMB3 | c.628+119G>T (n.628+119G>T) c.436+119G>T (n.436+119G>T) | gnomAD v4 |
1 | g.209632954del | CA2650322282 | LAMB3 | c.628+118del (n.628+118del) c.436+118del (n.436+118del) | gnomAD v4 |
1 | g.209632955T>A | CA2484302102 | LAMB3 | c.628+115A>T (n.628+115A>T) c.436+115A>T (n.436+115A>T) | dbSNP gnomAD v4 |
1 | g.209632955T>C | CA2650322283 | LAMB3 | c.628+115A>G (n.628+115A>G) c.436+115A>G (n.436+115A>G) | gnomAD v4 |
1 | g.209632955T= | CA2484302101 | LAMB3 | c.628+115A= (n.628+115A=) c.436+115A= (n.436+115A=) | |
1 | g.209632956C= | CA1140700548 | LAMB3 | c.628+114G= (n.628+114G=) c.436+114G= (n.436+114G=) | |
1 | g.209632956C>T | CA36759844 | LAMB3 | c.628+114G>A (n.628+114G>A) c.436+114G>A (n.436+114G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632958C>A | CA2650322284 | LAMB3 | c.628+112G>T (n.628+112G>T) c.436+112G>T (n.436+112G>T) | gnomAD v4 |