Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209633003C= | CA2484302115 | LAMB3 | c.628+67G= (n.628+67G=) c.436+67G= (n.436+67G=) | |
1 | g.209633003C>T | CA36759862 | LAMB3 | c.628+67G>A (n.628+67G>A) c.436+67G>A (n.436+67G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633004C>G | CA2650322333 | LAMB3 | c.628+66G>C (n.628+66G>C) c.436+66G>C (n.436+66G>C) | gnomAD v4 |
1 | g.209633005T>C | CA2650322334 | LAMB3 | c.628+65A>G (n.628+65A>G) c.436+65A>G (n.436+65A>G) | gnomAD v4 |
1 | g.209633008del | CA2574124591 | LAMB3 | c.628+64del (n.628+64del) c.436+64del (n.436+64del) | |
1 | g.209633007G>C | CA1011769654 | LAMB3 | c.628+63C>G (n.628+63C>G) c.436+63C>G (n.436+63C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633007G= | CA2484302116 | LAMB3 | c.628+63C= (n.628+63C=) c.436+63C= (n.436+63C=) | |
1 | g.209633007G>T | CA2574124592 | LAMB3 | c.628+63C>A (n.628+63C>A) c.436+63C>A (n.436+63C>A) | |
1 | g.209633008G= | CA2484302117 | LAMB3 | c.628+62C= (n.628+62C=) c.436+62C= (n.436+62C=) | |
1 | g.209633008G>T | CA36759864 | LAMB3 | c.628+62C>A (n.628+62C>A) c.436+62C>A (n.436+62C>A) | dbSNP gnomAD v4 |
1 | g.209633009C>G | CA2650322338 | LAMB3 | c.628+61G>C (n.628+61G>C) c.436+61G>C (n.436+61G>C) | gnomAD v4 |
1 | g.209633009C>T | CA2650322337 | LAMB3 | c.628+61G>A (n.628+61G>A) c.436+61G>A (n.436+61G>A) | gnomAD v4 |
1 | g.209633011C>A | CA2574124593 | LAMB3 | c.628+59G>T (n.628+59G>T) c.436+59G>T (n.436+59G>T) | |
1 | g.209633013A>G | CA2650322339 | LAMB3 | c.628+57T>C (n.628+57T>C) c.436+57T>C (n.436+57T>C) | gnomAD v4 |
1 | g.209633014A>G | CA2607036516 | LAMB3 | c.628+56T>C (n.628+56T>C) c.436+56T>C (n.436+56T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633014_209633016delinsACT | CA2484302118 | LAMB3 | c.628+54_628+56delinsAGT (n.628+54_628+56delinsAGT) c.436+54_436+56delinsAGT (n.436+54_436+56delinsAGT) | |
1 | g.209633015C>A | CA2650322342 | LAMB3 | c.628+55G>T (n.628+55G>T) c.436+55G>T (n.436+55G>T) | gnomAD v4 |
1 | g.209633017_209633018del | CA916393726 | LAMB3 | c.628+54_628+55del (n.628+54_628+55del) c.436+54_436+55del (n.436+54_436+55del) | dbSNP |
1 | g.209633019_209633020del | CA2650322343 | LAMB3 | c.628+51_628+52del (n.628+51_628+52del) c.436+51_436+52del (n.436+51_436+52del) | gnomAD v4 |
1 | g.209633019G>A | CA2650322344 | LAMB3 | c.628+51C>T (n.628+51C>T) c.436+51C>T (n.436+51C>T) | gnomAD v4 |
1 | g.209633021T>C | CA2574124594 | LAMB3 | c.628+49A>G (n.628+49A>G) c.436+49A>G (n.436+49A>G) | |
1 | g.209633022T>G | CA2484302120 | LAMB3 | c.628+48A>C (n.628+48A>C) c.436+48A>C (n.436+48A>C) | dbSNP |
1 | g.209633022T= | CA2484302119 | LAMB3 | c.628+48A= (n.628+48A=) c.436+48A= (n.436+48A=) | |
1 | g.209633023C= | CA2484302121 | LAMB3 | c.628+47G= (n.628+47G=) c.436+47G= (n.436+47G=) | |
1 | g.209633023C>G | CA1375892 | LAMB3 | c.628+47G>C (n.628+47G>C) c.436+47G>C (n.436+47G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633024C>A | CA2747563289 | LAMB3 | c.628+46G>T (n.628+46G>T) c.436+46G>T (n.436+46G>T) | |
1 | g.209633024C>T | CA2650322346 | LAMB3 | c.628+46G>A (n.628+46G>A) c.436+46G>A (n.436+46G>A) | gnomAD v4 |
1 | g.209633025T>C | CA2484302123 | LAMB3 | c.628+45A>G (n.628+45A>G) c.436+45A>G (n.436+45A>G) | dbSNP |
1 | g.209633025T= | CA2484302122 | LAMB3 | c.628+45A= (n.628+45A=) c.436+45A= (n.436+45A=) | |
1 | g.209633027del | CA2650322347 | LAMB3 | c.628+45del (n.628+45del) c.436+45del (n.436+45del) | gnomAD v4 |
1 | g.209633026T>C | CA2650322348 | LAMB3 | c.628+44A>G (n.628+44A>G) c.436+44A>G (n.436+44A>G) | gnomAD v4 |
1 | g.209633028C>A | CA423032717 | LAMB3 | c.628+42G>T (n.628+42G>T) c.436+42G>T (n.436+42G>T) | |
1 | g.209633028C= | CA1148224947 | LAMB3 | c.628+42G= (n.628+42G=) c.436+42G= (n.436+42G=) | |
1 | g.209633028C>G | CA423032716 | LAMB3 | c.628+42G>C (n.628+42G>C) c.436+42G>C (n.436+42G>C) | |
1 | g.209633028C>T | CA257284 | LAMB3 | c.628+42G>A (n.628+42G>A) c.436+42G>A (n.436+42G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633029C= | CA2484302124 | LAMB3 | c.628+41G= (n.628+41G=) c.436+41G= (n.436+41G=) | |
1 | g.209633029C>T | CA528652932 | LAMB3 | c.628+41G>A (n.628+41G>A) c.436+41G>A (n.436+41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633030C>T | CA2574124595 | LAMB3 | c.628+40G>A (n.628+40G>A) c.436+40G>A (n.436+40G>A) | gnomAD v4 |
1 | g.209633031A>T | CA2650322356 | LAMB3 | c.628+39T>A (n.628+39T>A) c.436+39T>A (n.436+39T>A) | gnomAD v4 |
1 | g.209633032C>A | CA2650322358 | LAMB3 | c.628+38G>T (n.628+38G>T) c.436+38G>T (n.436+38G>T) | gnomAD v4 |
1 | g.209633032C= | CA2484302125 | LAMB3 | c.628+38G= (n.628+38G=) c.436+38G= (n.436+38G=) | |
1 | g.209633032C>T | CA1011769670 | LAMB3 | c.628+38G>A (n.628+38G>A) c.436+38G>A (n.436+38G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633033C= | CA2484302126 | LAMB3 | c.628+37G= (n.628+37G=) c.436+37G= (n.436+37G=) | |
1 | g.209633033C>G | CA730835760 | LAMB3 | c.628+37G>C (n.628+37G>C) c.436+37G>C (n.436+37G>C) | dbSNP gnomAD v4 |
1 | g.209633033C>T | CA2650322364 | LAMB3 | c.628+37G>A (n.628+37G>A) c.436+37G>A (n.436+37G>A) | gnomAD v4 |
1 | g.209633033_209633035delinsCCA | CA2484302127 | LAMB3 | c.628+35_628+37delinsTGG (n.628+35_628+37delinsTGG) c.436+35_436+37delinsTGG (n.436+35_436+37delinsTGG) | |
1 | g.209633034_209633035del | CA730835763 | LAMB3 | c.628+35_628+36del (n.628+35_628+36del) c.436+35_436+36del (n.436+35_436+36del) | dbSNP |
1 | g.209633035A= | CA2484302128 | LAMB3 | c.628+35T= (n.628+35T=) c.436+35T= (n.436+35T=) | |
1 | g.209633035A>G | CA1375893 | LAMB3 | c.628+35T>C (n.628+35T>C) c.436+35T>C (n.436+35T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.209633036T>C | CA528652933 | LAMB3 | c.628+34A>G (n.628+34A>G) c.436+34A>G (n.436+34A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633036T= | CA2484302129 | LAMB3 | c.628+34A= (n.628+34A=) c.436+34A= (n.436+34A=) | |
1 | g.209633037del | CA2530233963 | LAMB3 | c.628+33del (n.628+33del) c.436+33del (n.436+33del) | |
1 | g.209633037A= | CA2484302130 | LAMB3 | c.628+33T= (n.628+33T=) c.436+33T= (n.436+33T=) | |
1 | g.209633037A>G | CA2510327778 | LAMB3 | c.628+33T>C (n.628+33T>C) c.436+33T>C (n.436+33T>C) | gnomAD v4 |
1 | g.209633037A>T | CA1375894 | LAMB3 | c.628+33T>A (n.628+33T>A) c.436+33T>A (n.436+33T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633038G>C | CA2574124596 | LAMB3 | c.628+32C>G (n.628+32C>G) c.436+32C>G (n.436+32C>G) | gnomAD v4 |
1 | g.209633038G= | CA2484302131 | LAMB3 | c.628+32C= (n.628+32C=) c.436+32C= (n.436+32C=) | |
1 | g.209633038G>T | CA1011769680 | LAMB3 | c.628+32C>A (n.628+32C>A) c.436+32C>A (n.436+32C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633039T>A | CA2650322379 | LAMB3 | c.628+31A>T (n.628+31A>T) c.436+31A>T (n.436+31A>T) | gnomAD v4 |
1 | g.209633039T>C | CA1375895 | LAMB3 | c.628+31A>G (n.628+31A>G) c.436+31A>G (n.436+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633039T>G | CA2574124597 | LAMB3 | c.628+31A>C (n.628+31A>C) c.436+31A>C (n.436+31A>C) | |
1 | g.209633039T= | CA1148363526 | LAMB3 | c.628+31A= (n.628+31A=) c.436+31A= (n.436+31A=) | |
1 | g.209633040del | CA2650322378 | LAMB3 | c.628+31del (n.628+31del) c.436+31del (n.436+31del) | gnomAD v4 |
1 | g.209633040T>C | CA2650322385 | LAMB3 | c.628+30A>G (n.628+30A>G) c.436+30A>G (n.436+30A>G) | gnomAD v4 |
1 | g.209633040_209633050del | CA2535235200 | LAMB3 | c.628+20_628+30del (n.628+20_628+30del) c.436+20_436+30del (n.436+20_436+30del) | |
1 | g.209633041C= | CA2484302132 | LAMB3 | c.628+29G= (n.628+29G=) c.436+29G= (n.436+29G=) | |
1 | g.209633041C>T | CA2484302133 | LAMB3 | c.628+29G>A (n.628+29G>A) c.436+29G>A (n.436+29G>A) | dbSNP gnomAD v4 |
1 | g.209633042C>T | CA2650322390 | LAMB3 | c.628+28G>A (n.628+28G>A) c.436+28G>A (n.436+28G>A) | gnomAD v4 |
1 | g.209633043A= | CA2484302134 | LAMB3 | c.628+27T= (n.628+27T=) c.436+27T= (n.436+27T=) | |
1 | g.209633043A>C | CA2574124598 | LAMB3 | c.628+27T>G (n.628+27T>G) c.436+27T>G (n.436+27T>G) | gnomAD v4 |
1 | g.209633043A>G | CA1375896 | LAMB3 | c.628+27T>C (n.628+27T>C) c.436+27T>C (n.436+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633044T>A | CA2484302135 | LAMB3 | c.628+26A>T (n.628+26A>T) c.436+26A>T (n.436+26A>T) | dbSNP |
1 | g.209633044T>C | CA730835772 | LAMB3 | c.628+26A>G (n.628+26A>G) c.436+26A>G (n.436+26A>G) | dbSNP gnomAD v4 |
1 | g.209633044T= | CA2484302136 | LAMB3 | c.628+26A= (n.628+26A=) c.436+26A= (n.436+26A=) | |
1 | g.209633045G>A | CA1011769685 | LAMB3 | c.628+25C>T (n.628+25C>T) c.436+25C>T (n.436+25C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633045G= | CA2484302138 | LAMB3 | c.628+25C= (n.628+25C=) c.436+25C= (n.436+25C=) | |
1 | g.209633045G>T | CA2650322402 | LAMB3 | c.628+25C>A (n.628+25C>A) c.436+25C>A (n.436+25C>A) | gnomAD v4 |
1 | g.209633046del | CA2650322404 | LAMB3 | c.628+25del (n.628+25del) c.436+25del (n.436+25del) | gnomAD v4 |
1 | g.209633045_209633066delinsGGACAAGAGAAGTAACCACACT | CA2484302137 | LAMB3 | c.628+4_628+25delinsAGTGTGGTTACTTCTCTTGTCC (n.628+4_628+25delinsAGTGTGGTTACTTCTCTTGTCC) c.436+4_436+25delinsAGTGTGGTTACTTCTCTTGTCC (n.436+4_436+25delinsAGTGTGGTTACTTCTCTTGTCC) | |
1 | g.209633046G>A | CA1375897 | LAMB3 | c.628+24C>T (n.628+24C>T) c.436+24C>T (n.436+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633046G>C | CA2484302139 | LAMB3 | c.628+24C>G (n.628+24C>G) c.436+24C>G (n.436+24C>G) | dbSNP gnomAD v4 |
1 | g.209633046G= | CA1143200871 | LAMB3 | c.628+24C= (n.628+24C=) c.436+24C= (n.436+24C=) | |
1 | g.209633046G>T | CA2574124599 | LAMB3 | c.628+24C>A (n.628+24C>A) c.436+24C>A (n.436+24C>A) | gnomAD v4 |
1 | g.209633049_209633069del | CA36759878 | LAMB3 | c.628+4_628+24del (n.628+4_628+24del) c.436+4_436+24del (n.436+4_436+24del) | dbSNP gnomAD v4 |
1 | g.209633048C>A | CA2650322420 | LAMB3 | c.628+22G>T (n.628+22G>T) c.436+22G>T (n.436+22G>T) | gnomAD v4 |
1 | g.209633048C= | CA1143453409 | LAMB3 | c.628+22G= (n.628+22G=) c.436+22G= (n.436+22G=) | |
1 | g.209633048C>T | CA1375898 | LAMB3 | c.628+22G>A (n.628+22G>A) c.436+22G>A (n.436+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633049A= | CA2484302140 | LAMB3 | c.628+21T= (n.628+21T=) c.436+21T= (n.436+21T=) | |
1 | g.209633049A>G | CA1375899 | LAMB3 | c.628+21T>C (n.628+21T>C) c.436+21T>C (n.436+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633049A>T | CA36759884 | LAMB3 | c.628+21T>A (n.628+21T>A) c.436+21T>A (n.436+21T>A) | dbSNP |
1 | g.209633050del | CA2650322425 | LAMB3 | c.628+21del (n.628+21del) c.436+21del (n.436+21del) | gnomAD v4 |
1 | g.209633050A= | CA2484302141 | LAMB3 | c.628+20T= (n.628+20T=) c.436+20T= (n.436+20T=) | |
1 | g.209633050A>C | CA2650322430 | LAMB3 | c.628+20T>G (n.628+20T>G) c.436+20T>G (n.436+20T>G) | gnomAD v4 |
1 | g.209633050_209633051insTG | CA916393727 | LAMB3 | c.628+19_628+20insCA (n.628+19_628+20insCA) c.436+19_436+20insCA (n.436+19_436+20insCA) | dbSNP |
1 | g.209633051G>A | CA528652934 | LAMB3 | c.628+19C>T (n.628+19C>T) c.436+19C>T (n.436+19C>T) | dbSNP gnomAD v2 |
1 | g.209633051G= | CA2484302142 | LAMB3 | c.628+19C= (n.628+19C=) c.436+19C= (n.436+19C=) | |
1 | g.209633051G>T | CA2650322436 | LAMB3 | c.628+19C>A (n.628+19C>A) c.436+19C>A (n.436+19C>A) | gnomAD v4 |
1 | g.209633052A>G | CA2650322439 | LAMB3 | c.628+18T>C (n.628+18T>C) c.436+18T>C (n.436+18T>C) | gnomAD v4 |
1 | g.209633054A>G | CA2650322440 | LAMB3 | c.628+16T>C (n.628+16T>C) c.436+16T>C (n.436+16T>C) | gnomAD v4 |
1 | g.209633056G>A | CA2484302144 | LAMB3 | c.628+14C>T (n.628+14C>T) c.436+14C>T (n.436+14C>T) | dbSNP gnomAD v4 |
1 | g.209633056G= | CA2484302143 | LAMB3 | c.628+14C= (n.628+14C=) c.436+14C= (n.436+14C=) | |
1 | g.209633056_209633057dup | CA2650322441 | LAMB3 | c.628+13_628+14dup (n.628+13_628+14dup) c.436+13_436+14dup (n.436+13_436+14dup) | gnomAD v4 |
1 | g.209633058A>G | CA2650322442 | LAMB3 | c.628+12T>C (n.628+12T>C) c.436+12T>C (n.436+12T>C) | gnomAD v4 |
1 | g.209633059A>G | CA2650322443 | LAMB3 | c.628+11T>C (n.628+11T>C) c.436+11T>C (n.436+11T>C) | gnomAD v4 |
1 | g.209633060C>A | CA36759887 | LAMB3 | c.628+10G>T (n.628+10G>T) c.436+10G>T (n.436+10G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.209633060C= | CA2484302145 | LAMB3 | c.628+10G= (n.628+10G=) c.436+10G= (n.436+10G=) | |
1 | g.209633060C>G | CA2573131528 | LAMB3 | c.628+10G>C (n.628+10G>C) c.436+10G>C (n.436+10G>C) | ClinVar dbSNP gnomAD v4 |
1 | g.209633060C>T | CA2484302146 | LAMB3 | c.628+10G>A (n.628+10G>A) c.436+10G>A (n.436+10G>A) | dbSNP |
1 | g.209633061C= | CA2484302147 | LAMB3 | c.628+9G= (n.628+9G=) c.436+9G= (n.436+9G=) | |
1 | g.209633061C>T | CA36759890 | LAMB3 | c.628+9G>A (n.628+9G>A) c.436+9G>A (n.436+9G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.209633062A>T | CA2650322459 | LAMB3 | c.628+8T>A (n.628+8T>A) c.436+8T>A (n.436+8T>A) | gnomAD v4 |
1 | g.209633063C>A | CA528652935 | LAMB3 | c.628+7G>T (n.628+7G>T) c.436+7G>T (n.436+7G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209633063C= | CA2484302148 | LAMB3 | c.628+7G= (n.628+7G=) c.436+7G= (n.436+7G=) | |
1 | g.209633063C>G | CA2573131529 | LAMB3 | c.628+7G>C (n.628+7G>C) c.436+7G>C (n.436+7G>C) | ClinVar dbSNP |
1 | g.209633063C>T | CA528652936 | LAMB3 | c.628+7G>A (n.628+7G>A) c.436+7G>A (n.436+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209633065C>A | CA2650322465 | LAMB3 | c.628+5G>T (n.628+5G>T) c.436+5G>T (n.436+5G>T) | gnomAD v4 |
1 | g.209633065C>G | CA913072637 | LAMB3 | c.628+5G>C (n.628+5G>C) c.436+5G>C (n.436+5G>C) | |
1 | g.209633065C>T | CA2574124600 | LAMB3 | c.628+5G>A (n.628+5G>A) c.436+5G>A (n.436+5G>A) | gnomAD v4 |
1 | g.209633066T>G | CA2747563290 | LAMB3 | c.628+4A>C (n.628+4A>C) c.436+4A>C (n.436+4A>C) | |
1 | g.209633067G>T | CA2650322468 | LAMB3 | c.628+3C>A (n.628+3C>A) c.436+3C>A (n.436+3C>A) | gnomAD v4 |
1 | g.209633068A= | CA2484302149 | LAMB3 | c.628+2T= (n.628+2T=) c.436+2T= (n.436+2T=) | |
1 | g.209633068A>C | CA344594856 | LAMB3 | c.628+2T>G (n.628+2T>G) c.436+2T>G (n.436+2T>G) | |
1 | g.209633068A>G | CA344594857 | LAMB3 | c.628+2T>C (n.628+2T>C) c.436+2T>C (n.436+2T>C) | |
1 | g.209633068A>T | CA344594858 | LAMB3 | c.628+2T>A (n.628+2T>A) c.436+2T>A (n.436+2T>A) | ClinVar dbSNP |
1 | g.209633069C>A | CA344594859 | LAMB3 | c.628+1G>T (n.628+1G>T) c.436+1G>T (n.436+1G>T) | dbSNP |
1 | g.209633069C= | CA2484302150 | LAMB3 | c.628+1G= (n.628+1G=) c.436+1G= (n.436+1G=) | |
1 | g.209633069C>G | CA344594860 | LAMB3 | c.628+1G>C (n.628+1G>C) c.436+1G>C (n.436+1G>C) | |
1 | g.209633069C>T | CA16040701 | LAMB3 | c.628+1G>A (n.628+1G>A) c.436+1G>A (n.436+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633070C>A | CA344594862 | LAMB3 | c.628G>T (p.Glu210Ter) c.436G>T (p.Glu146Ter) | COSMIC |
1 | g.209633070C= | CA1141581386 | LAMB3 | c.628G= (p.Glu210=) c.436G= (p.Glu146=) | |
1 | g.209633070C>G | CA344594861 | LAMB3 | c.628G>C (p.Glu210Gln) c.436G>C (p.Glu146Gln) | |
1 | g.209633070C>T | CA257275 | LAMB3 | c.628G>A (p.Glu210Lys) c.436G>A (p.Glu146Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633071T>A | CA344594863 | LAMB3 | c.627A>T (p.Gln209His) c.435A>T (p.Gln145His) | |
1 | g.209633071T>C | CA423032718 | LAMB3 | c.627A>G (p.Gln209=) c.435A>G (p.Gln145=) | |
1 | g.209633071T>G | CA344594864 | LAMB3 | c.627A>C (p.Gln209His) c.435A>C (p.Gln145His) | |
1 | g.209633072T>A | CA344594865 | LAMB3 | c.626A>T (p.Gln209Leu) c.434A>T (p.Gln145Leu) | |
1 | g.209633072T>C | CA344594866 | LAMB3 | c.626A>G (p.Gln209Arg) c.434A>G (p.Gln145Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633072T>G | CA344594867 | LAMB3 | c.626A>C (p.Gln209Pro) c.434A>C (p.Gln145Pro) | |
1 | g.209633072T= | CA2484302151 | LAMB3 | c.626A= (p.Gln209=) c.434A= (p.Gln145=) | |
1 | g.209633073G>A | CA344594868 | LAMB3 | c.625C>T (p.Gln209Ter) c.433C>T (p.Gln145Ter) | gnomAD v4 |
1 | g.209633073G>C | CA344594869 | LAMB3 | c.625C>G (p.Gln209Glu) c.433C>G (p.Gln145Glu) | |
1 | g.209633073G= | CA2484302152 | LAMB3 | c.625C= (p.Gln209=) c.433C= (p.Gln145=) | |
1 | g.209633073G>T | CA344594870 | LAMB3 | c.625C>A (p.Gln209Lys) c.433C>A (p.Gln145Lys) | dbSNP gnomAD v4 |
1 | g.209633074A>C | CA344594871 | LAMB3 | c.624T>G (p.Ile208Met) c.432T>G (p.Ile144Met) | |
1 | g.209633074A>G | CA423032719 | LAMB3 | c.624T>C (p.Ile208=) c.432T>C (p.Ile144=) | |
1 | g.209633074A>T | CA423032720 | LAMB3 | c.624T>A (p.Ile208=) c.432T>A (p.Ile144=) | |
1 | g.209633075A>C | CA344594872 | LAMB3 | c.623T>G (p.Ile208Ser) c.431T>G (p.Ile144Ser) | |
1 | g.209633075A>G | CA344594873 | LAMB3 | c.623T>C (p.Ile208Thr) c.431T>C (p.Ile144Thr) | |
1 | g.209633075A>T | CA344594874 | LAMB3 | c.623T>A (p.Ile208Asn) c.431T>A (p.Ile144Asn) | |
1 | g.209633075_209633076delinsAT | CA2484302153 | LAMB3 | c.622_623delinsAT (p.Ile208=) c.430_431delinsAT (p.Ile144=) | |
1 | g.209633076T>A | CA344594875 | LAMB3 | c.622A>T (p.Ile208Phe) c.430A>T (p.Ile144Phe) | gnomAD v4 |
1 | g.209633076T>C | CA344594876 | LAMB3 | c.622A>G (p.Ile208Val) c.430A>G (p.Ile144Val) | gnomAD v4 |
1 | g.209633076T>G | CA344594877 | LAMB3 | c.622A>C (p.Ile208Leu) c.430A>C (p.Ile144Leu) | |
1 | g.209633081del | CA1375900 | LAMB3 | c.622del (p.Ile208PhefsTer10) c.430del (p.Ile144PhefsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209633077T>A | CA344594879 | LAMB3 | c.621A>T (p.Lys207Asn) c.429A>T (p.Lys143Asn) | |
1 | g.209633077T>C | CA423032721 | LAMB3 | c.621A>G (p.Lys207=) c.429A>G (p.Lys143=) | |
1 | g.209633077T>G | CA344594878 | LAMB3 | c.621A>C (p.Lys207Asn) c.429A>C (p.Lys143Asn) | |
1 | g.209633078T>A | CA344594880 | LAMB3 | c.620A>T (p.Lys207Ile) c.428A>T (p.Lys143Ile) | |
1 | g.209633078T>C | CA344594881 | LAMB3 | c.620A>G (p.Lys207Arg) c.428A>G (p.Lys143Arg) | |
1 | g.209633078T>G | CA344594882 | LAMB3 | c.620A>C (p.Lys207Thr) c.428A>C (p.Lys143Thr) | |
1 | g.209633079T>A | CA344594883 | LAMB3 | c.619A>T (p.Lys207Ter) c.427A>T (p.Lys143Ter) | |
1 | g.209633079T>C | CA344594884 | LAMB3 | c.619A>G (p.Lys207Glu) c.427A>G (p.Lys143Glu) | |
1 | g.209633079T>G | CA257287 | LAMB3 | c.619A>C (p.Lys207Gln) c.427A>C (p.Lys143Gln) | ClinVar dbSNP |
1 | g.209633079T= | CA1141581387 | LAMB3 | c.619A= (p.Lys207=) c.427A= (p.Lys143=) | |
1 | g.209633080T>A | CA344594885 | LAMB3 | c.618A>T (p.Gln206His) c.426A>T (p.Gln142His) | |
1 | g.209633080T>C | CA423032722 | LAMB3 | c.618A>G (p.Gln206=) c.426A>G (p.Gln142=) | |
1 | g.209633080T>G | CA344594886 | LAMB3 | c.618A>C (p.Gln206His) c.426A>C (p.Gln142His) | |
1 | g.209633081T>A | CA344594887 | LAMB3 | c.617A>T (p.Gln206Leu) c.425A>T (p.Gln142Leu) | |
1 | g.209633081T>C | CA344594888 | LAMB3 | c.617A>G (p.Gln206Arg) c.425A>G (p.Gln142Arg) | |
1 | g.209633081T>G | CA344594889 | LAMB3 | c.617A>C (p.Gln206Pro) c.425A>C (p.Gln142Pro) | |
1 | g.209633082G>A | CA1375901 | LAMB3 | c.616C>T (p.Gln206Ter) c.424C>T (p.Gln142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633082G>C | CA344594890 | LAMB3 | c.616C>G (p.Gln206Glu) c.424C>G (p.Gln142Glu) | |
1 | g.209633082G= | CA2484302154 | LAMB3 | c.616C= (p.Gln206=) c.424C= (p.Gln142=) | |
1 | g.209633082G>T | CA36759899 | LAMB3 | c.616C>A (p.Gln206Lys) c.424C>A (p.Gln142Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633083A>C | CA344594891 | LAMB3 | c.615T>G (p.Ser205Arg) c.423T>G (p.Ser141Arg) | |
1 | g.209633083A>G | CA423032723 | LAMB3 | c.615T>C (p.Ser205=) c.423T>C (p.Ser141=) | |
1 | g.209633083A>T | CA344594892 | LAMB3 | c.615T>A (p.Ser205Arg) c.423T>A (p.Ser141Arg) | |
1 | g.209633084C>A | CA344594893 | LAMB3 | c.614G>T (p.Ser205Ile) c.422G>T (p.Ser141Ile) | |
1 | g.209633084C= | CA1148879133 | LAMB3 | c.614G= (p.Ser205=) c.422G= (p.Ser141=) | |
1 | g.209633084C>G | CA1375902 | LAMB3 | c.614G>C (p.Ser205Thr) c.422G>C (p.Ser141Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633084C>T | CA344594894 | LAMB3 | c.614G>A (p.Ser205Asn) c.422G>A (p.Ser141Asn) | |
1 | g.209633085T>A | CA344594895 | LAMB3 | c.613A>T (p.Ser205Cys) c.421A>T (p.Ser141Cys) | |
1 | g.209633085T>C | CA344594896 | LAMB3 | c.613A>G (p.Ser205Gly) c.421A>G (p.Ser141Gly) | gnomAD v4 |
1 | g.209633085T>G | CA344594897 | LAMB3 | c.613A>C (p.Ser205Arg) c.421A>C (p.Ser141Arg) | |
1 | g.209633087dup | CA2739275562 | LAMB3 | c.613dup (p.Ser205LysfsTer?) c.421dup (p.Ser141LysfsTer?) | ClinVar |
1 | g.209633086T>A | CA344594898 | LAMB3 | c.612A>T (p.Gln204His) c.420A>T (p.Gln140His) | gnomAD v4 |
1 | g.209633086T>C | CA1375903 | LAMB3 | c.612A>G (p.Gln204=) c.420A>G (p.Gln140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633086T>G | CA344594899 | LAMB3 | c.612A>C (p.Gln204His) c.420A>C (p.Gln140His) | |
1 | g.209633086T= | CA2484302155 | LAMB3 | c.612A= (p.Gln204=) c.420A= (p.Gln140=) | |
1 | g.209633087T>A | CA344594900 | LAMB3 | c.611A>T (p.Gln204Leu) c.419A>T (p.Gln140Leu) | |
1 | g.209633087T>C | CA1375904 | LAMB3 | c.611A>G (p.Gln204Arg) c.419A>G (p.Gln140Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633087T>G | CA344594901 | LAMB3 | c.611A>C (p.Gln204Pro) c.419A>C (p.Gln140Pro) | |
1 | g.209633087T= | CA2484302156 | LAMB3 | c.611A= (p.Gln204=) c.419A= (p.Gln140=) | |
1 | g.209633088G>A | CA344594902 | LAMB3 | c.610C>T (p.Gln204Ter) c.418C>T (p.Gln140Ter) | |
1 | g.209633088G>C | CA344594903 | LAMB3 | c.610C>G (p.Gln204Glu) c.418C>G (p.Gln140Glu) | dbSNP gnomAD v4 |
1 | g.209633088G= | CA2484302157 | LAMB3 | c.610C= (p.Gln204=) c.418C= (p.Gln140=) | |
1 | g.209633088G>T | CA36759906 | LAMB3 | c.610C>A (p.Gln204Lys) c.418C>A (p.Gln140Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633089A= | CA2484302158 | LAMB3 | c.609T= (p.Thr203=) c.417T= (p.Thr139=) | |
1 | g.209633089A>C | CA423032725 | LAMB3 | c.609T>G (p.Thr203=) c.417T>G (p.Thr139=) | |
1 | g.209633089A>G | CA423032726 | LAMB3 | c.609T>C (p.Thr203=) c.417T>C (p.Thr139=) | |
1 | g.209633089A>T | CA423032724 | LAMB3 | c.609T>A (p.Thr203=) c.417T>A (p.Thr139=) | ClinVar dbSNP gnomAD v4 |
1 | g.209633090G>A | CA344594904 | LAMB3 | c.608C>T (p.Thr203Ile) c.416C>T (p.Thr139Ile) | |
1 | g.209633090G>C | CA344594905 | LAMB3 | c.608C>G (p.Thr203Ser) c.416C>G (p.Thr139Ser) | |
1 | g.209633090G>T | CA344594906 | LAMB3 | c.608C>A (p.Thr203Asn) c.416C>A (p.Thr139Asn) | |
1 | g.209633091T>A | CA344594907 | LAMB3 | c.607A>T (p.Thr203Ser) c.415A>T (p.Thr139Ser) | |
1 | g.209633091T>C | CA344594908 | LAMB3 | c.607A>G (p.Thr203Ala) c.415A>G (p.Thr139Ala) | gnomAD v4 |
1 | g.209633091T>G | CA344594909 | LAMB3 | c.607A>C (p.Thr203Pro) c.415A>C (p.Thr139Pro) | |
1 | g.209633092T>A | CA423032727 | LAMB3 | c.606A>T (p.Ala202=) c.414A>T (p.Ala138=) | |
1 | g.209633092T>C | CA423032728 | LAMB3 | c.606A>G (p.Ala202=) c.414A>G (p.Ala138=) | |
1 | g.209633092T>G | CA423032729 | LAMB3 | c.606A>C (p.Ala202=) c.414A>C (p.Ala138=) | |
1 | g.209633093G>A | CA344594910 | LAMB3 | c.605C>T (p.Ala202Val) c.413C>T (p.Ala138Val) | gnomAD v4 COSMIC |
1 | g.209633093G>C | CA344594911 | LAMB3 | c.605C>G (p.Ala202Gly) c.413C>G (p.Ala138Gly) | |
1 | g.209633093G= | CA2484302159 | LAMB3 | c.605C= (p.Ala202=) c.413C= (p.Ala138=) | |
1 | g.209633093G>T | CA344594912 | LAMB3 | c.605C>A (p.Ala202Glu) c.413C>A (p.Ala138Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209633094del | CA2586967990 | LAMB3 | c.604del (p.Ala202GlnfsTer16) c.412del (p.Ala138GlnfsTer16) | |
1 | g.209633094C>A | CA344594913 | LAMB3 | c.604G>T (p.Ala202Ser) c.412G>T (p.Ala138Ser) | |
1 | g.209633094C>G | CA344594914 | LAMB3 | c.604G>C (p.Ala202Pro) c.412G>C (p.Ala138Pro) | |
1 | g.209633094C>T | CA344594915 | LAMB3 | c.604G>A (p.Ala202Thr) c.412G>A (p.Ala138Thr) | |
1 | g.209633095T>A | CA423032731 | LAMB3 | c.603A>T (p.Pro201=) c.411A>T (p.Pro137=) | |
1 | g.209633095T>C | CA423032732 | LAMB3 | c.603A>G (p.Pro201=) c.411A>G (p.Pro137=) | |
1 | g.209633095T>G | CA423032733 | LAMB3 | c.603A>C (p.Pro201=) c.411A>C (p.Pro137=) | |
1 | g.209633096G>A | CA344594918 | LAMB3 | c.602C>T (p.Pro201Leu) c.410C>T (p.Pro137Leu) | gnomAD v4 |
1 | g.209633096G>C | CA344594916 | LAMB3 | c.602C>G (p.Pro201Arg) c.410C>G (p.Pro137Arg) | |
1 | g.209633096G>T | CA344594917 | LAMB3 | c.602C>A (p.Pro201Gln) c.410C>A (p.Pro137Gln) | |
1 | g.209633097G>A | CA344594919 | LAMB3 | c.601C>T (p.Pro201Ser) c.409C>T (p.Pro137Ser) | |
1 | g.209633097G>C | CA344594920 | LAMB3 | c.601C>G (p.Pro201Ala) c.409C>G (p.Pro137Ala) | |
1 | g.209633097G>T | CA344594921 | LAMB3 | c.601C>A (p.Pro201Thr) c.409C>A (p.Pro137Thr) | |
1 | g.209633098A>C | CA344594922 | LAMB3 | c.600T>G (p.Ile200Met) c.408T>G (p.Ile136Met) | |
1 | g.209633098A>G | CA423032734 | LAMB3 | c.600T>C (p.Ile200=) c.408T>C (p.Ile136=) | |
1 | g.209633098A>T | CA423032735 | LAMB3 | c.600T>A (p.Ile200=) c.408T>A (p.Ile136=) | |
1 | g.209633099A>C | CA344594923 | LAMB3 | c.599T>G (p.Ile200Ser) c.407T>G (p.Ile136Ser) | |
1 | g.209633099A>G | CA344594924 | LAMB3 | c.599T>C (p.Ile200Thr) c.407T>C (p.Ile136Thr) | |
1 | g.209633099A>T | CA344594925 | LAMB3 | c.599T>A (p.Ile200Asn) c.407T>A (p.Ile136Asn) | |
1 | g.209633100T>A | CA344594926 | LAMB3 | c.598A>T (p.Ile200Phe) c.406A>T (p.Ile136Phe) | |
1 | g.209633100T>C | CA344594927 | LAMB3 | c.598A>G (p.Ile200Val) c.406A>G (p.Ile136Val) | gnomAD v4 |
1 | g.209633100T>G | CA344594928 | LAMB3 | c.598A>C (p.Ile200Leu) c.406A>C (p.Ile136Leu) | |
1 | g.209633101C>A | CA1375905 | LAMB3 | c.597G>T (p.Gly199=) c.405G>T (p.Gly135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209633101C= | CA1143903825 | LAMB3 | c.597G= (p.Gly199=) c.405G= (p.Gly135=) | |
1 | g.209633101C>G | CA423032736 | LAMB3 | c.597G>C (p.Gly199=) c.405G>C (p.Gly135=) | |
1 | g.209633101C>T | CA423032737 | LAMB3 | c.597G>A (p.Gly199=) c.405G>A (p.Gly135=) | |
1 | g.209633102C>A | CA344594930 | LAMB3 | c.596G>T (p.Gly199Val) c.404G>T (p.Gly135Val) | |
1 | g.209633102C= | CA1141581388 | LAMB3 | c.596G= (p.Gly199=) c.404G= (p.Gly135=) | |
1 | g.209633102C>G | CA257285 | LAMB3 | c.596G>C (p.Gly199Ala) c.404G>C (p.Gly135Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.209633102C>T | CA344594929 | LAMB3 | c.596G>A (p.Gly199Glu) c.404G>A (p.Gly135Glu) | COSMIC |