Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617872C= | CA2484296031 | LAMB3 | c.3051+35G= (n.3051+35G=) c.258+35G= (n.258+35G=) c.2859+35G= (n.2859+35G=) | |
1 | g.209617872C>T | CA529000151 | LAMB3 | c.3051+35G>A (n.3051+35G>A) c.258+35G>A (n.258+35G>A) c.2859+35G>A (n.2859+35G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617873C>A | CA2650320423 | LAMB3 | c.3051+34G>T (n.3051+34G>T) c.258+34G>T (n.258+34G>T) c.2859+34G>T (n.2859+34G>T) | gnomAD v4 |
1 | g.209617874C= | CA2484296033 | LAMB3 | c.3051+33G= (n.3051+33G=) c.258+33G= (n.258+33G=) c.2859+33G= (n.2859+33G=) | |
1 | g.209617874C>T | CA529000152 | LAMB3 | c.3051+33G>A (n.3051+33G>A) c.258+33G>A (n.258+33G>A) c.2859+33G>A (n.2859+33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617874_209617875delinsCA | CA2484296032 | LAMB3 | c.3051+32_3051+33delinsTG (n.3051+32_3051+33delinsTG) c.258+32_258+33delinsTG (n.258+32_258+33delinsTG) c.2859+32_2859+33delinsTG (n.2859+32_2859+33delinsTG) | |
1 | g.209617874_209617886delinsCAAATATGGGCGG | CA2484296034 | LAMB3 | c.3051+21_3051+33delinsCCGCCCATATTTG (n.3051+21_3051+33delinsCCGCCCATATTTG) c.258+21_258+33delinsCCGCCCATATTTG (n.258+21_258+33delinsCCGCCCATATTTG) c.2859+21_2859+33delinsCCGCCCATATTTG (n.2859+21_2859+33delinsCCGCCCATATTTG) | |
1 | g.209617877del | CA1375001 | LAMB3 | c.3051+32del (n.3051+32del) c.258+32del (n.258+32del) c.2859+32del (n.2859+32del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617876_209617887del | CA1011766185 | LAMB3 | c.3051+21_3051+32del (n.3051+21_3051+32del) c.258+21_258+32del (n.258+21_258+32del) c.2859+21_2859+32del (n.2859+21_2859+32del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617876A>T | CA2573998333 | LAMB3 | c.3051+31T>A (n.3051+31T>A) c.258+31T>A (n.258+31T>A) c.2859+31T>A (n.2859+31T>A) | |
1 | g.209617878T>C | CA2573998338 | LAMB3 | c.3051+29A>G (n.3051+29A>G) c.258+29A>G (n.258+29A>G) c.2859+29A>G (n.2859+29A>G) | gnomAD v4 |
1 | g.209617879A>T | CA2573998339 | LAMB3 | c.3051+28T>A (n.3051+28T>A) c.258+28T>A (n.258+28T>A) c.2859+28T>A (n.2859+28T>A) | |
1 | g.209617880T>C | CA730846388 | LAMB3 | c.3051+27A>G (n.3051+27A>G) c.258+27A>G (n.258+27A>G) c.2859+27A>G (n.2859+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617880T>G | CA2484296036 | LAMB3 | c.3051+27A>C (n.3051+27A>C) c.258+27A>C (n.258+27A>C) c.2859+27A>C (n.2859+27A>C) | dbSNP |
1 | g.209617880T= | CA2484296037 | LAMB3 | c.3051+27A= (n.3051+27A=) c.258+27A= (n.258+27A=) c.2859+27A= (n.2859+27A=) | |
1 | g.209617880_209617881delinsTG | CA2484296035 | LAMB3 | c.3051+26_3051+27delinsCA (n.3051+26_3051+27delinsCA) c.258+26_258+27delinsCA (n.258+26_258+27delinsCA) c.2859+26_2859+27delinsCA (n.2859+26_2859+27delinsCA) | |
1 | g.209617883del | CA529000153 | LAMB3 | c.3051+26del (n.3051+26del) c.258+26del (n.258+26del) c.2859+26del (n.2859+26del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617883G>C | CA2484296039 | LAMB3 | c.3051+24C>G (n.3051+24C>G) c.258+24C>G (n.258+24C>G) c.2859+24C>G (n.2859+24C>G) | dbSNP |
1 | g.209617883G= | CA2484296038 | LAMB3 | c.3051+24C= (n.3051+24C=) c.258+24C= (n.258+24C=) c.2859+24C= (n.2859+24C=) | |
1 | g.209617884_209617885del | CA2573998388 | LAMB3 | c.3051+23_3051+24del (n.3051+23_3051+24del) c.258+23_258+24del (n.258+23_258+24del) c.2859+23_2859+24del (n.2859+23_2859+24del) | |
1 | g.209617884C= | CA1144145899 | LAMB3 | c.3051+23G= (n.3051+23G=) c.258+23G= (n.258+23G=) c.2859+23G= (n.2859+23G=) | |
1 | g.209617884C>T | CA1375002 | LAMB3 | c.3051+23G>A (n.3051+23G>A) c.258+23G>A (n.258+23G>A) c.2859+23G>A (n.2859+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617885G>A | CA1375003 | LAMB3 | c.3051+22C>T (n.3051+22C>T) c.258+22C>T (n.258+22C>T) c.2859+22C>T (n.2859+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617885G= | CA1143532806 | LAMB3 | c.3051+22C= (n.3051+22C=) c.258+22C= (n.258+22C=) c.2859+22C= (n.2859+22C=) | |
1 | g.209617885G>T | CA2484296040 | LAMB3 | c.3051+22C>A (n.3051+22C>A) c.258+22C>A (n.258+22C>A) c.2859+22C>A (n.2859+22C>A) | dbSNP |
1 | g.209617886G>A | CA36749770 | LAMB3 | c.3051+21C>T (n.3051+21C>T) c.258+21C>T (n.258+21C>T) c.2859+21C>T (n.2859+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617886G>C | CA2697843662 | LAMB3 | c.3051+21C>G (n.3051+21C>G) c.258+21C>G (n.258+21C>G) c.2859+21C>G (n.2859+21C>G) | dbSNP |
1 | g.209617886G= | CA1143948519 | LAMB3 | c.3051+21C= (n.3051+21C=) c.258+21C= (n.258+21C=) c.2859+21C= (n.2859+21C=) | |
1 | g.209617886G>T | CA2573998397 | LAMB3 | c.3051+21C>A (n.3051+21C>A) c.258+21C>A (n.258+21C>A) c.2859+21C>A (n.2859+21C>A) | |
1 | g.209617886_209617890delinsGAGGA | CA2484296041 | LAMB3 | c.3051+17_3051+21delinsTCCTC (n.3051+17_3051+21delinsTCCTC) c.258+17_258+21delinsTCCTC (n.258+17_258+21delinsTCCTC) c.2859+17_2859+21delinsTCCTC (n.2859+17_2859+21delinsTCCTC) | |
1 | g.209617889_209617892del | CA730846406 | LAMB3 | c.3051+17_3051+20del (n.3051+17_3051+20del) c.258+17_258+20del (n.258+17_258+20del) c.2859+17_2859+20del (n.2859+17_2859+20del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617888G>A | CA2484296043 | LAMB3 | c.3051+19C>T (n.3051+19C>T) c.258+19C>T (n.258+19C>T) c.2859+19C>T (n.2859+19C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.209617888G= | CA2484296042 | LAMB3 | c.3051+19C= (n.3051+19C=) c.258+19C= (n.258+19C=) c.2859+19C= (n.2859+19C=) | |
1 | g.209617889G>A | CA1375004 | LAMB3 | c.3051+18C>T (n.3051+18C>T) c.258+18C>T (n.258+18C>T) c.2859+18C>T (n.2859+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617889G= | CA2484296044 | LAMB3 | c.3051+18C= (n.3051+18C=) c.258+18C= (n.258+18C=) c.2859+18C= (n.2859+18C=) | |
1 | g.209617889G>T | CA529000154 | LAMB3 | c.3051+18C>A (n.3051+18C>A) c.258+18C>A (n.258+18C>A) c.2859+18C>A (n.2859+18C>A) | dbSNP gnomAD v2 |
1 | g.209617891A= | CA2484296045 | LAMB3 | c.3051+16T= (n.3051+16T=) c.258+16T= (n.258+16T=) c.2859+16T= (n.2859+16T=) | |
1 | g.209617891A>G | CA1375005 | LAMB3 | c.3051+16T>C (n.3051+16T>C) c.258+16T>C (n.258+16T>C) c.2859+16T>C (n.2859+16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617892G>A | CA2650320424 | LAMB3 | c.3051+15C>T (n.3051+15C>T) c.258+15C>T (n.258+15C>T) c.2859+15C>T (n.2859+15C>T) | ClinVar gnomAD v4 |
1 | g.209617893C>A | CA1375006 | LAMB3 | c.3051+14G>T (n.3051+14G>T) c.258+14G>T (n.258+14G>T) c.2859+14G>T (n.2859+14G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617893C= | CA2484296046 | LAMB3 | c.3051+14G= (n.3051+14G=) c.258+14G= (n.258+14G=) c.2859+14G= (n.2859+14G=) | |
1 | g.209617895A>C | CA2650320425 | LAMB3 | c.3051+12T>G (n.3051+12T>G) c.258+12T>G (n.258+12T>G) c.2859+12T>G (n.2859+12T>G) | gnomAD v4 |
1 | g.209617896T>A | CA1375007 | LAMB3 | c.3051+11A>T (n.3051+11A>T) c.258+11A>T (n.258+11A>T) c.2859+11A>T (n.2859+11A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617896T>C | CA2573998417 | LAMB3 | c.3051+11A>G (n.3051+11A>G) c.258+11A>G (n.258+11A>G) c.2859+11A>G (n.2859+11A>G) | |
1 | g.209617896T= | CA1143465577 | LAMB3 | c.3051+11A= (n.3051+11A=) c.258+11A= (n.258+11A=) c.2859+11A= (n.2859+11A=) | |
1 | g.209617898A= | CA2484296047 | LAMB3 | c.3051+9T= (n.3051+9T=) c.258+9T= (n.258+9T=) c.2859+9T= (n.2859+9T=) | |
1 | g.209617898A>C | CA2650320426 | LAMB3 | c.3051+9T>G (n.3051+9T>G) c.258+9T>G (n.258+9T>G) c.2859+9T>G (n.2859+9T>G) | gnomAD v4 |
1 | g.209617898A>G | CA36749778 | LAMB3 | c.3051+9T>C (n.3051+9T>C) c.258+9T>C (n.258+9T>C) c.2859+9T>C (n.2859+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617899T>C | CA2573998429 | LAMB3 | c.3051+8A>G (n.3051+8A>G) c.258+8A>G (n.258+8A>G) c.2859+8A>G (n.2859+8A>G) | |
1 | g.209617899T>G | CA36749782 | LAMB3 | c.3051+8A>C (n.3051+8A>C) c.258+8A>C (n.258+8A>C) c.2859+8A>C (n.2859+8A>C) | dbSNP |
1 | g.209617899T= | CA2484296048 | LAMB3 | c.3051+8A= (n.3051+8A=) c.258+8A= (n.258+8A=) c.2859+8A= (n.2859+8A=) | |
1 | g.209617901C>A | CA2650320427 | LAMB3 | c.3051+6G>T (n.3051+6G>T) c.258+6G>T (n.258+6G>T) c.2859+6G>T (n.2859+6G>T) | gnomAD v4 |
1 | g.209617902C= | CA2484296049 | LAMB3 | c.3051+5G= (n.3051+5G=) c.258+5G= (n.258+5G=) c.2859+5G= (n.2859+5G=) | |
1 | g.209617902C>G | CA36749785 | LAMB3 | c.3051+5G>C (n.3051+5G>C) c.258+5G>C (n.258+5G>C) c.2859+5G>C (n.2859+5G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617903T>C | CA2650320428 | LAMB3 | c.3051+4A>G (n.3051+4A>G) c.258+4A>G (n.258+4A>G) c.2859+4A>G (n.2859+4A>G) | gnomAD v4 |
1 | g.209617904C= | CA1142631056 | LAMB3 | c.3051+3G= (n.3051+3G=) c.258+3G= (n.258+3G=) c.2859+3G= (n.2859+3G=) | |
1 | g.209617904C>T | CA1375008 | LAMB3 | c.3051+3G>A (n.3051+3G>A) c.258+3G>A (n.258+3G>A) c.2859+3G>A (n.2859+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617905A>C | CA344584591 | LAMB3 | c.3051+2T>G (n.3051+2T>G) c.258+2T>G (n.258+2T>G) c.2859+2T>G (n.2859+2T>G) | |
1 | g.209617905A>G | CA344584592 | LAMB3 | c.3051+2T>C (n.3051+2T>C) c.258+2T>C (n.258+2T>C) c.2859+2T>C (n.2859+2T>C) | |
1 | g.209617905A>T | CA344584593 | LAMB3 | c.3051+2T>A (n.3051+2T>A) c.258+2T>A (n.258+2T>A) c.2859+2T>A (n.2859+2T>A) | |
1 | g.209617906C>A | CA344584595 | LAMB3 | c.3051+1G>T (n.3051+1G>T) c.258+1G>T (n.258+1G>T) c.2859+1G>T (n.2859+1G>T) | |
1 | g.209617906C>G | CA344584597 | LAMB3 | c.3051+1G>C (n.3051+1G>C) c.258+1G>C (n.258+1G>C) c.2859+1G>C (n.2859+1G>C) | |
1 | g.209617906C>T | CA344584598 | LAMB3 | c.3051+1G>A (n.3051+1G>A) c.258+1G>A (n.258+1G>A) c.2859+1G>A (n.2859+1G>A) | |
1 | g.209617907C>A | CA344584599 | LAMB3 | c.3051G>T (p.Glu1017Asp) c.258G>T (p.Glu86Asp) c.2859G>T (p.Glu953Asp) | |
1 | g.209617907C= | CA1143406815 | LAMB3 | c.3051G= (p.Glu1017=) c.258G= (p.Glu86=) c.2859G= (p.Glu953=) | |
1 | g.209617907C>G | CA36749809 | LAMB3 | c.3051G>C (p.Glu1017Asp) c.258G>C (p.Glu86Asp) c.2859G>C (p.Glu953Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617907C>T | CA423029610 | LAMB3 | c.3051G>A (p.Glu1017=) c.258G>A (p.Glu86=) c.2859G>A (p.Glu953=) | |
1 | g.209617908T>A | CA344584601 | LAMB3 | c.3050A>T (p.Glu1017Val) c.257A>T (p.Glu86Val) c.2858A>T (p.Glu953Val) | |
1 | g.209617908T>C | CA344584603 | LAMB3 | c.3050A>G (p.Glu1017Gly) c.257A>G (p.Glu86Gly) c.2858A>G (p.Glu953Gly) | |
1 | g.209617908T>G | CA344584605 | LAMB3 | c.3050A>C (p.Glu1017Ala) c.257A>C (p.Glu86Ala) c.2858A>C (p.Glu953Ala) | |
1 | g.209617909C>A | CA344584613 | LAMB3 | c.3049G>T (p.Glu1017Ter) c.256G>T (p.Glu86Ter) c.2857G>T (p.Glu953Ter) | |
1 | g.209617909C>G | CA344584609 | LAMB3 | c.3049G>C (p.Glu1017Gln) c.256G>C (p.Glu86Gln) c.2857G>C (p.Glu953Gln) | COSMIC |
1 | g.209617909C>T | CA344584611 | LAMB3 | c.3049G>A (p.Glu1017Lys) c.256G>A (p.Glu86Lys) c.2857G>A (p.Glu953Lys) | COSMIC |
1 | g.209617910A= | CA2484296050 | LAMB3 | c.3048T= (p.Ala1016=) c.255T= (p.Ala85=) c.2856T= (p.Ala952=) | |
1 | g.209617910A>C | CA423029611 | LAMB3 | c.3048T>G (p.Ala1016=) c.255T>G (p.Ala85=) c.2856T>G (p.Ala952=) | |
1 | g.209617910A>G | CA36749813 | LAMB3 | c.3048T>C (p.Ala1016=) c.255T>C (p.Ala85=) c.2856T>C (p.Ala952=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617910A>T | CA423029612 | LAMB3 | c.3048T>A (p.Ala1016=) c.255T>A (p.Ala85=) c.2856T>A (p.Ala952=) | |
1 | g.209617911G>A | CA344584614 | LAMB3 | c.3047C>T (p.Ala1016Val) c.254C>T (p.Ala85Val) c.2855C>T (p.Ala952Val) | |
1 | g.209617911G>C | CA344584616 | LAMB3 | c.3047C>G (p.Ala1016Gly) c.254C>G (p.Ala85Gly) c.2855C>G (p.Ala952Gly) | |
1 | g.209617911G>T | CA344584618 | LAMB3 | c.3047C>A (p.Ala1016Asp) c.254C>A (p.Ala85Asp) c.2855C>A (p.Ala952Asp) | |
1 | g.209617912C>A | CA344584621 | LAMB3 | c.3046G>T (p.Ala1016Ser) c.253G>T (p.Ala85Ser) c.2854G>T (p.Ala952Ser) | |
1 | g.209617912C>G | CA344584623 | LAMB3 | c.3046G>C (p.Ala1016Pro) c.253G>C (p.Ala85Pro) c.2854G>C (p.Ala952Pro) | |
1 | g.209617912C>T | CA344584625 | LAMB3 | c.3046G>A (p.Ala1016Thr) c.253G>A (p.Ala85Thr) c.2854G>A (p.Ala952Thr) | |
1 | g.209617913A>C | CA423029613 | LAMB3 | c.3045T>G (p.Val1015=) c.252T>G (p.Val84=) c.2853T>G (p.Val951=) | |
1 | g.209617913A>G | CA423029614 | LAMB3 | c.3045T>C (p.Val1015=) c.252T>C (p.Val84=) c.2853T>C (p.Val951=) | |
1 | g.209617913A>T | CA423029615 | LAMB3 | c.3045T>A (p.Val1015=) c.252T>A (p.Val84=) c.2853T>A (p.Val951=) | |
1 | g.209617914A>C | CA344584626 | LAMB3 | c.3044T>G (p.Val1015Gly) c.251T>G (p.Val84Gly) c.2852T>G (p.Val951Gly) | |
1 | g.209617914A>G | CA344584627 | LAMB3 | c.3044T>C (p.Val1015Ala) c.251T>C (p.Val84Ala) c.2852T>C (p.Val951Ala) | |
1 | g.209617914A>T | CA344584628 | LAMB3 | c.3044T>A (p.Val1015Asp) c.251T>A (p.Val84Asp) c.2852T>A (p.Val951Asp) | |
1 | g.209617915C>A | CA344584631 | LAMB3 | c.3043G>T (p.Val1015Phe) c.250G>T (p.Val84Phe) c.2851G>T (p.Val951Phe) | |
1 | g.209617915C>G | CA344584632 | LAMB3 | c.3043G>C (p.Val1015Leu) c.250G>C (p.Val84Leu) c.2851G>C (p.Val951Leu) | |
1 | g.209617915C>T | CA344584634 | LAMB3 | c.3043G>A (p.Val1015Ile) c.250G>A (p.Val84Ile) c.2851G>A (p.Val951Ile) | gnomAD v4 |
1 | g.209617916C>A | CA344584637 | LAMB3 | c.3042G>T (p.Arg1014Ser) c.249G>T (p.Arg83Ser) c.2850G>T (p.Arg950Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617916C= | CA1143370113 | LAMB3 | c.3042G= (p.Arg1014=) c.249G= (p.Arg83=) c.2850G= (p.Arg950=) | |
1 | g.209617916C>G | CA36749820 | LAMB3 | c.3042G>C (p.Arg1014Ser) c.249G>C (p.Arg83Ser) c.2850G>C (p.Arg950Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617916C>T | CA423029616 | LAMB3 | c.3042G>A (p.Arg1014=) c.249G>A (p.Arg83=) c.2850G>A (p.Arg950=) | ClinVar |
1 | g.209617917C>A | CA344584639 | LAMB3 | c.3041G>T (p.Arg1014Met) c.248G>T (p.Arg83Met) c.2849G>T (p.Arg950Met) | |
1 | g.209617917C>G | CA344584640 | LAMB3 | c.3041G>C (p.Arg1014Thr) c.248G>C (p.Arg83Thr) c.2849G>C (p.Arg950Thr) | |
1 | g.209617917C>T | CA344584641 | LAMB3 | c.3041G>A (p.Arg1014Lys) c.248G>A (p.Arg83Lys) c.2849G>A (p.Arg950Lys) | gnomAD v4 |
1 | g.209617918T>A | CA344584642 | LAMB3 | c.3040A>T (p.Arg1014Trp) c.247A>T (p.Arg83Trp) c.2848A>T (p.Arg950Trp) | |
1 | g.209617918T>C | CA344584643 | LAMB3 | c.3040A>G (p.Arg1014Gly) c.247A>G (p.Arg83Gly) c.2848A>G (p.Arg950Gly) | dbSNP gnomAD v4 |
1 | g.209617918T>G | CA423029617 | LAMB3 | c.3040A>C (p.Arg1014=) c.247A>C (p.Arg83=) c.2848A>C (p.Arg950=) | ClinVar |
1 | g.209617918T= | CA2484296051 | LAMB3 | c.3040A= (p.Arg1014=) c.247A= (p.Arg83=) c.2848A= (p.Arg950=) | |
1 | g.209617919G>A | CA36749823 | LAMB3 | c.3039C>T (p.Asp1013=) c.246C>T (p.Asp82=) c.2847C>T (p.Asp949=) | dbSNP |
1 | g.209617919G>C | CA344584645 | LAMB3 | c.3039C>G (p.Asp1013Glu) c.246C>G (p.Asp82Glu) c.2847C>G (p.Asp949Glu) | gnomAD v4 |
1 | g.209617919G= | CA2484296052 | LAMB3 | c.3039C= (p.Asp1013=) c.246C= (p.Asp82=) c.2847C= (p.Asp949=) | |
1 | g.209617919G>T | CA344584647 | LAMB3 | c.3039C>A (p.Asp1013Glu) c.246C>A (p.Asp82Glu) c.2847C>A (p.Asp949Glu) | |
1 | g.209617920T>A | CA344584650 | LAMB3 | c.3038A>T (p.Asp1013Val) c.245A>T (p.Asp82Val) c.2846A>T (p.Asp949Val) | gnomAD v4 |
1 | g.209617920T>C | CA344584652 | LAMB3 | c.3038A>G (p.Asp1013Gly) c.245A>G (p.Asp82Gly) c.2846A>G (p.Asp949Gly) | |
1 | g.209617920T>G | CA344584654 | LAMB3 | c.3038A>C (p.Asp1013Ala) c.245A>C (p.Asp82Ala) c.2846A>C (p.Asp949Ala) | |
1 | g.209617921C>A | CA344584657 | LAMB3 | c.3037G>T (p.Asp1013Tyr) c.244G>T (p.Asp82Tyr) c.2845G>T (p.Asp949Tyr) | |
1 | g.209617921C>G | CA344584658 | LAMB3 | c.3037G>C (p.Asp1013His) c.244G>C (p.Asp82His) c.2845G>C (p.Asp949His) | |
1 | g.209617921C>T | CA344584660 | LAMB3 | c.3037G>A (p.Asp1013Asn) c.244G>A (p.Asp82Asn) c.2845G>A (p.Asp949Asn) | COSMIC |
1 | g.209617922C>A | CA344584665 | LAMB3 | c.3036G>T (p.Gln1012His) c.243G>T (p.Gln81His) c.2844G>T (p.Gln948His) | |
1 | g.209617922C>G | CA344584663 | LAMB3 | c.3036G>C (p.Gln1012His) c.243G>C (p.Gln81His) c.2844G>C (p.Gln948His) | |
1 | g.209617922C>T | CA423029678 | LAMB3 | c.3036G>A (p.Gln1012=) c.243G>A (p.Gln81=) c.2844G>A (p.Gln948=) | |
1 | g.209617923T>A | CA344584668 | LAMB3 | c.3035A>T (p.Gln1012Leu) c.242A>T (p.Gln81Leu) c.2843A>T (p.Gln948Leu) | |
1 | g.209617923T>C | CA344584670 | LAMB3 | c.3035A>G (p.Gln1012Arg) c.242A>G (p.Gln81Arg) c.2843A>G (p.Gln948Arg) | dbSNP |
1 | g.209617923T>G | CA344584673 | LAMB3 | c.3035A>C (p.Gln1012Pro) c.242A>C (p.Gln81Pro) c.2843A>C (p.Gln948Pro) | |
1 | g.209617923T= | CA2484296053 | LAMB3 | c.3035A= (p.Gln1012=) c.242A= (p.Gln81=) c.2843A= (p.Gln948=) | |
1 | g.209617924G>A | CA16040689 | LAMB3 | c.3034C>T (p.Gln1012Ter) c.241C>T (p.Gln81Ter) c.2842C>T (p.Gln948Ter) | ClinVar dbSNP |
1 | g.209617924G>C | CA344584684 | LAMB3 | c.3034C>G (p.Gln1012Glu) c.241C>G (p.Gln81Glu) c.2842C>G (p.Gln948Glu) | |
1 | g.209617924G= | CA2484296054 | LAMB3 | c.3034C= (p.Gln1012=) c.241C= (p.Gln81=) c.2842C= (p.Gln948=) | |
1 | g.209617924G>T | CA344584686 | LAMB3 | c.3034C>A (p.Gln1012Lys) c.241C>A (p.Gln81Lys) c.2842C>A (p.Gln948Lys) | |
1 | g.209617925del | CA2580061985 | LAMB3 | c.3034del (p.Gln1012ArgfsTer18) c.241del (p.Gln81ArgfsTer18) c.2842del (p.Gln948ArgfsTer18) | ClinVar |
1 | g.209617925G>A | CA423029682 | LAMB3 | c.3033C>T (p.Ile1011=) c.240C>T (p.Ile80=) c.2841C>T (p.Ile947=) | |
1 | g.209617925G>C | CA344584689 | LAMB3 | c.3033C>G (p.Ile1011Met) c.240C>G (p.Ile80Met) c.2841C>G (p.Ile947Met) | |
1 | g.209617925G>T | CA423029683 | LAMB3 | c.3033C>A (p.Ile1011=) c.240C>A (p.Ile80=) c.2841C>A (p.Ile947=) | |
1 | g.209617926A>C | CA344584690 | LAMB3 | c.3032T>G (p.Ile1011Ser) c.239T>G (p.Ile80Ser) c.2840T>G (p.Ile947Ser) | |
1 | g.209617926A>G | CA344584691 | LAMB3 | c.3032T>C (p.Ile1011Thr) c.239T>C (p.Ile80Thr) c.2840T>C (p.Ile947Thr) | |
1 | g.209617926A>T | CA344584692 | LAMB3 | c.3032T>A (p.Ile1011Asn) c.239T>A (p.Ile80Asn) c.2840T>A (p.Ile947Asn) | gnomAD v4 |
1 | g.209617927T>A | CA344584693 | LAMB3 | c.3031A>T (p.Ile1011Phe) c.238A>T (p.Ile80Phe) c.2839A>T (p.Ile947Phe) | |
1 | g.209617927T>C | CA344584694 | LAMB3 | c.3031A>G (p.Ile1011Val) c.238A>G (p.Ile80Val) c.2839A>G (p.Ile947Val) | |
1 | g.209617927T>G | CA344584695 | LAMB3 | c.3031A>C (p.Ile1011Leu) c.238A>C (p.Ile80Leu) c.2839A>C (p.Ile947Leu) | |
1 | g.209617928A= | CA2484296055 | LAMB3 | c.3030T= (p.Leu1010=) c.237T= (p.Leu79=) c.2838T= (p.Leu946=) | |
1 | g.209617928A>C | CA423029685 | LAMB3 | c.3030T>G (p.Leu1010=) c.237T>G (p.Leu79=) c.2838T>G (p.Leu946=) | |
1 | g.209617928A>G | CA1375009 | LAMB3 | c.3030T>C (p.Leu1010=) c.237T>C (p.Leu79=) c.2838T>C (p.Leu946=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617928A>T | CA423029686 | LAMB3 | c.3030T>A (p.Leu1010=) c.237T>A (p.Leu79=) c.2838T>A (p.Leu946=) | |
1 | g.209617929A>C | CA344584698 | LAMB3 | c.3029T>G (p.Leu1010Arg) c.236T>G (p.Leu79Arg) c.2837T>G (p.Leu946Arg) | |
1 | g.209617929A>G | CA344584697 | LAMB3 | c.3029T>C (p.Leu1010Pro) c.236T>C (p.Leu79Pro) c.2837T>C (p.Leu946Pro) | |
1 | g.209617929A>T | CA344584696 | LAMB3 | c.3029T>A (p.Leu1010His) c.236T>A (p.Leu79His) c.2837T>A (p.Leu946His) | |
1 | g.209617930G>A | CA344584700 | LAMB3 | c.3028C>T (p.Leu1010Phe) c.235C>T (p.Leu79Phe) c.2836C>T (p.Leu946Phe) | |
1 | g.209617930G>C | CA344584699 | LAMB3 | c.3028C>G (p.Leu1010Val) c.235C>G (p.Leu79Val) c.2836C>G (p.Leu946Val) | |
1 | g.209617930G>T | CA344584701 | LAMB3 | c.3028C>A (p.Leu1010Ile) c.235C>A (p.Leu79Ile) c.2836C>A (p.Leu946Ile) | |
1 | g.209617931C>A | CA423029692 | LAMB3 | c.3027G>T (p.Arg1009=) c.234G>T (p.Arg78=) c.2835G>T (p.Arg945=) | |
1 | g.209617931C>G | CA423029693 | LAMB3 | c.3027G>C (p.Arg1009=) c.234G>C (p.Arg78=) c.2835G>C (p.Arg945=) | |
1 | g.209617931C>T | CA423029694 | LAMB3 | c.3027G>A (p.Arg1009=) c.234G>A (p.Arg78=) c.2835G>A (p.Arg945=) | |
1 | g.209617932C>A | CA36749836 | LAMB3 | c.3026G>T (p.Arg1009Leu) c.233G>T (p.Arg78Leu) c.2834G>T (p.Arg945Leu) | ClinVar dbSNP |
1 | g.209617932C= | CA2484296056 | LAMB3 | c.3026G= (p.Arg1009=) c.233G= (p.Arg78=) c.2834G= (p.Arg945=) | |
1 | g.209617932C>G | CA344584702 | LAMB3 | c.3026G>C (p.Arg1009Pro) c.233G>C (p.Arg78Pro) c.2834G>C (p.Arg945Pro) | |
1 | g.209617932C>T | CA1375010 | LAMB3 | c.3026G>A (p.Arg1009Gln) c.233G>A (p.Arg78Gln) c.2834G>A (p.Arg945Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617933G>A | CA1375013 | LAMB3 | c.3025C>T (p.Arg1009Trp) c.232C>T (p.Arg78Trp) c.2833C>T (p.Arg945Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617933G>C | CA1375012 | LAMB3 | c.3025C>G (p.Arg1009Gly) c.232C>G (p.Arg78Gly) c.2833C>G (p.Arg945Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617933G= | CA2484296057 | LAMB3 | c.3025C= (p.Arg1009=) c.232C= (p.Arg78=) c.2833C= (p.Arg945=) | |
1 | g.209617933G>T | CA423029698 | LAMB3 | c.3025C>A (p.Arg1009=) c.232C>A (p.Arg78=) c.2833C>A (p.Arg945=) | gnomAD v4 |
1 | g.209617933_209617934delinsGA | CA2484296058 | LAMB3 | c.3024_3025delinsTC (p.Leu1008=) c.231_232delinsTC (p.Leu77=) c.2832_2833delinsTC (p.Leu944=) | |
1 | g.209617934A>C | CA423029701 | LAMB3 | c.3024T>G (p.Leu1008=) c.231T>G (p.Leu77=) c.2832T>G (p.Leu944=) | |
1 | g.209617934A>G | CA423029700 | LAMB3 | c.3024T>C (p.Leu1008=) c.231T>C (p.Leu77=) c.2832T>C (p.Leu944=) | |
1 | g.209617934A>T | CA423029699 | LAMB3 | c.3024T>A (p.Leu1008=) c.231T>A (p.Leu77=) c.2832T>A (p.Leu944=) | |
1 | g.209617935del | CA1375011 | LAMB3 | c.3024del (p.Arg1009GlyfsTer21) c.231del (p.Arg78GlyfsTer21) c.2832del (p.Arg945GlyfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617935A>C | CA344584703 | LAMB3 | c.3023T>G (p.Leu1008Arg) c.230T>G (p.Leu77Arg) c.2831T>G (p.Leu944Arg) | |
1 | g.209617935A>G | CA344584704 | LAMB3 | c.3023T>C (p.Leu1008Pro) c.230T>C (p.Leu77Pro) c.2831T>C (p.Leu944Pro) | |
1 | g.209617935A>T | CA344584705 | LAMB3 | c.3023T>A (p.Leu1008His) c.230T>A (p.Leu77His) c.2831T>A (p.Leu944His) | |
1 | g.209617935_209617936delinsAG | CA2484296059 | LAMB3 | c.3022_3023delinsCT (p.Leu1008=) c.229_230delinsCT (p.Leu77=) c.2830_2831delinsCT (p.Leu944=) | |
1 | g.209617936G>A | CA36749852 | LAMB3 | c.3022C>T (p.Leu1008Phe) c.229C>T (p.Leu77Phe) c.2830C>T (p.Leu944Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617936G>C | CA344584706 | LAMB3 | c.3022C>G (p.Leu1008Val) c.229C>G (p.Leu77Val) c.2830C>G (p.Leu944Val) | |
1 | g.209617936G= | CA2484296060 | LAMB3 | c.3022C= (p.Leu1008=) c.229C= (p.Leu77=) c.2830C= (p.Leu944=) | |
1 | g.209617936G>T | CA344584707 | LAMB3 | c.3022C>A (p.Leu1008Ile) c.229C>A (p.Leu77Ile) c.2830C>A (p.Leu944Ile) | |
1 | g.209617936_209617938delinsGGG | CA1149041319 | LAMB3 | c.3020_3022delinsCCC (p.Ser1007=) c.227_229delinsCCC (p.Ser76=) c.2828_2830delinsCCC (p.Ser943=) | |
1 | g.209617938del | CA1375014 | LAMB3 | c.3022del (p.Leu1008PhefsTer22) c.229del (p.Leu77PhefsTer22) c.2830del (p.Leu944PhefsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617937G>A | CA423029706 | LAMB3 | c.3021C>T (p.Ser1007=) c.228C>T (p.Ser76=) c.2829C>T (p.Ser943=) | gnomAD v4 |
1 | g.209617937G>C | CA423029707 | LAMB3 | c.3021C>G (p.Ser1007=) c.228C>G (p.Ser76=) c.2829C>G (p.Ser943=) | |
1 | g.209617937G>T | CA423029708 | LAMB3 | c.3021C>A (p.Ser1007=) c.228C>A (p.Ser76=) c.2829C>A (p.Ser943=) | |
1 | g.209617938G>A | CA1375015 | LAMB3 | c.3020C>T (p.Ser1007Phe) c.227C>T (p.Ser76Phe) c.2828C>T (p.Ser943Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617938G>C | CA344584708 | LAMB3 | c.3020C>G (p.Ser1007Cys) c.227C>G (p.Ser76Cys) c.2828C>G (p.Ser943Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617938G= | CA2484296061 | LAMB3 | c.3020C= (p.Ser1007=) c.227C= (p.Ser76=) c.2828C= (p.Ser943=) | |
1 | g.209617938G>T | CA344584709 | LAMB3 | c.3020C>A (p.Ser1007Tyr) c.227C>A (p.Ser76Tyr) c.2828C>A (p.Ser943Tyr) | |
1 | g.209617939A= | CA2484296062 | LAMB3 | c.3019T= (p.Ser1007=) c.226T= (p.Ser76=) c.2827T= (p.Ser943=) | |
1 | g.209617939A>C | CA344584712 | LAMB3 | c.3019T>G (p.Ser1007Ala) c.226T>G (p.Ser76Ala) c.2827T>G (p.Ser943Ala) | |
1 | g.209617939A>G | CA344584711 | LAMB3 | c.3019T>C (p.Ser1007Pro) c.226T>C (p.Ser76Pro) c.2827T>C (p.Ser943Pro) | |
1 | g.209617939A>T | CA344584710 | LAMB3 | c.3019T>A (p.Ser1007Thr) c.226T>A (p.Ser76Thr) c.2827T>A (p.Ser943Thr) | dbSNP gnomAD v2 |
1 | g.209617940G>A | CA423029709 | LAMB3 | c.3018C>T (p.Arg1006=) c.225C>T (p.Arg75=) c.2826C>T (p.Arg942=) | |
1 | g.209617940G>C | CA423029711 | LAMB3 | c.3018C>G (p.Arg1006=) c.225C>G (p.Arg75=) c.2826C>G (p.Arg942=) | |
1 | g.209617940G>T | CA423029713 | LAMB3 | c.3018C>A (p.Arg1006=) c.225C>A (p.Arg75=) c.2826C>A (p.Arg942=) | |
1 | g.209617941C>A | CA1375017 | LAMB3 | c.3017G>T (p.Arg1006Leu) c.224G>T (p.Arg75Leu) c.2825G>T (p.Arg942Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617941C= | CA2484296063 | LAMB3 | c.3017G= (p.Arg1006=) c.224G= (p.Arg75=) c.2825G= (p.Arg942=) | |
1 | g.209617941C>G | CA344584713 | LAMB3 | c.3017G>C (p.Arg1006Pro) c.224G>C (p.Arg75Pro) c.2825G>C (p.Arg942Pro) | |
1 | g.209617941C>T | CA1375016 | LAMB3 | c.3017G>A (p.Arg1006His) c.224G>A (p.Arg75His) c.2825G>A (p.Arg942His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617941_209617942delinsCG | CA2484296064 | LAMB3 | c.3016_3017delinsCG (p.Arg1006=) c.223_224delinsCG (p.Arg75=) c.2824_2825delinsCG (p.Arg942=) | |
1 | g.209617942G>A | CA1375018 | LAMB3 | c.3016C>T (p.Arg1006Cys) c.223C>T (p.Arg75Cys) c.2824C>T (p.Arg942Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617942G>C | CA344584715 | LAMB3 | c.3016C>G (p.Arg1006Gly) c.223C>G (p.Arg75Gly) c.2824C>G (p.Arg942Gly) | gnomAD v4 |
1 | g.209617942G= | CA1144144130 | LAMB3 | c.3016C= (p.Arg1006=) c.223C= (p.Arg75=) c.2824C= (p.Arg942=) | |
1 | g.209617942G>T | CA344584716 | LAMB3 | c.3016C>A (p.Arg1006Ser) c.223C>A (p.Arg75Ser) c.2824C>A (p.Arg942Ser) | |
1 | g.209617943del | CA528652453 | LAMB3 | c.3016del (p.Arg1006AlafsTer24) c.223del (p.Arg75AlafsTer24) c.2824del (p.Arg942AlafsTer24) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617943G>A | CA1375019 | LAMB3 | c.3015C>T (p.Ser1005=) c.222C>T (p.Ser74=) c.2823C>T (p.Ser941=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617943G>C | CA344584717 | LAMB3 | c.3015C>G (p.Ser1005Arg) c.222C>G (p.Ser74Arg) c.2823C>G (p.Ser941Arg) | |
1 | g.209617943G= | CA1148228101 | LAMB3 | c.3015C= (p.Ser1005=) c.222C= (p.Ser74=) c.2823C= (p.Ser941=) | |
1 | g.209617943G>T | CA344584718 | LAMB3 | c.3015C>A (p.Ser1005Arg) c.222C>A (p.Ser74Arg) c.2823C>A (p.Ser941Arg) | gnomAD v4 |
1 | g.209617944C>A | CA344584719 | LAMB3 | c.3014G>T (p.Ser1005Ile) c.221G>T (p.Ser74Ile) c.2822G>T (p.Ser941Ile) | |
1 | g.209617944C>G | CA344584720 | LAMB3 | c.3014G>C (p.Ser1005Thr) c.221G>C (p.Ser74Thr) c.2822G>C (p.Ser941Thr) | |
1 | g.209617944C>T | CA344584721 | LAMB3 | c.3014G>A (p.Ser1005Asn) c.221G>A (p.Ser74Asn) c.2822G>A (p.Ser941Asn) | |
1 | g.209617945T>A | CA344584724 | LAMB3 | c.3013A>T (p.Ser1005Cys) c.220A>T (p.Ser74Cys) c.2821A>T (p.Ser941Cys) | |
1 | g.209617945T>C | CA344584723 | LAMB3 | c.3013A>G (p.Ser1005Gly) c.220A>G (p.Ser74Gly) c.2821A>G (p.Ser941Gly) | |
1 | g.209617945T>G | CA344584722 | LAMB3 | c.3013A>C (p.Ser1005Arg) c.220A>C (p.Ser74Arg) c.2821A>C (p.Ser941Arg) | |
1 | g.209617945T= | CA2484296065 | LAMB3 | c.3013A= (p.Ser1005=) c.220A= (p.Ser74=) c.2821A= (p.Ser941=) | |
1 | g.209617946G>A | CA423029719 | LAMB3 | c.3012C>T (p.Thr1004=) c.219C>T (p.Thr73=) c.2820C>T (p.Thr940=) | |
1 | g.209617946G>C | CA423029720 | LAMB3 | c.3012C>G (p.Thr1004=) c.219C>G (p.Thr73=) c.2820C>G (p.Thr940=) | |
1 | g.209617946G>T | CA423029721 | LAMB3 | c.3012C>A (p.Thr1004=) c.219C>A (p.Thr73=) c.2820C>A (p.Thr940=) | |
1 | g.209617947_209617948insGGGG | CA2650320429 | LAMB3 | c.3012_3013insCCCC (p.Ser1005ProfsTer14) c.219_220insCCCC (p.Ser74ProfsTer14) c.2820_2821insCCCC (p.Ser941ProfsTer14) | gnomAD v4 |
1 | g.209617947dup | CA528652454 | LAMB3 | c.3012dup (p.Ser1005GlnfsTer13) c.219dup (p.Ser74GlnfsTer13) c.2820dup (p.Ser941GlnfsTer13) | dbSNP gnomAD v2 |
1 | g.209617947G>A | CA1375020 | LAMB3 | c.3011C>T (p.Thr1004Ile) c.218C>T (p.Thr73Ile) c.2819C>T (p.Thr940Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209617947G>C | CA1375021 | LAMB3 | c.3011C>G (p.Thr1004Ser) c.218C>G (p.Thr73Ser) c.2819C>G (p.Thr940Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617947G= | CA2484296066 | LAMB3 | c.3011C= (p.Thr1004=) c.218C= (p.Thr73=) c.2819C= (p.Thr940=) | |
1 | g.209617947G>T | CA344584725 | LAMB3 | c.3011C>A (p.Thr1004Asn) c.218C>A (p.Thr73Asn) c.2819C>A (p.Thr940Asn) | gnomAD v4 |
1 | g.209617948T>A | CA344584726 | LAMB3 | c.3010A>T (p.Thr1004Ser) c.217A>T (p.Thr73Ser) c.2818A>T (p.Thr940Ser) | |
1 | g.209617948T>C | CA344584727 | LAMB3 | c.3010A>G (p.Thr1004Ala) c.217A>G (p.Thr73Ala) c.2818A>G (p.Thr940Ala) | |
1 | g.209617948T>G | CA1375022 | LAMB3 | c.3010A>C (p.Thr1004Pro) c.217A>C (p.Thr73Pro) c.2818A>C (p.Thr940Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617948T= | CA1143468512 | LAMB3 | c.3010A= (p.Thr1004=) c.217A= (p.Thr73=) c.2818A= (p.Thr940=) | |
1 | g.209617949G>A | CA423029725 | LAMB3 | c.3009C>T (p.Gly1003=) c.216C>T (p.Gly72=) c.2817C>T (p.Gly939=) | |
1 | g.209617949G>C | CA423029727 | LAMB3 | c.3009C>G (p.Gly1003=) c.216C>G (p.Gly72=) c.2817C>G (p.Gly939=) | |
1 | g.209617949G>T | CA423029726 | LAMB3 | c.3009C>A (p.Gly1003=) c.216C>A (p.Gly72=) c.2817C>A (p.Gly939=) | |
1 | g.209617950C>A | CA1375024 | LAMB3 | c.3008G>T (p.Gly1003Val) c.215G>T (p.Gly72Val) c.2816G>T (p.Gly939Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.209617950C= | CA2484296067 | LAMB3 | c.3008G= (p.Gly1003=) c.215G= (p.Gly72=) c.2816G= (p.Gly939=) | |
1 | g.209617950C>G | CA1375023 | LAMB3 | c.3008G>C (p.Gly1003Ala) c.215G>C (p.Gly72Ala) c.2816G>C (p.Gly939Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617950C>T | CA344584730 | LAMB3 | c.3008G>A (p.Gly1003Asp) c.215G>A (p.Gly72Asp) c.2816G>A (p.Gly939Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617951C>A | CA344584731 | LAMB3 | c.3007G>T (p.Gly1003Cys) c.214G>T (p.Gly72Cys) c.2815G>T (p.Gly939Cys) | |
1 | g.209617951C= | CA2484296068 | LAMB3 | c.3007G= (p.Gly1003=) c.214G= (p.Gly72=) c.2815G= (p.Gly939=) | |
1 | g.209617951C>G | CA344584732 | LAMB3 | c.3007G>C (p.Gly1003Arg) c.214G>C (p.Gly72Arg) c.2815G>C (p.Gly939Arg) | |
1 | g.209617951C>T | CA10609564 | LAMB3 | c.3007G>A (p.Gly1003Ser) c.214G>A (p.Gly72Ser) c.2815G>A (p.Gly939Ser) | ClinVar dbSNP COSMIC |
1 | g.209617952T>A | CA344584734 | LAMB3 | c.3006A>T (p.Gln1002His) c.213A>T (p.Gln71His) c.2814A>T (p.Gln938His) | |
1 | g.209617952T>C | CA423029729 | LAMB3 | c.3006A>G (p.Gln1002=) c.213A>G (p.Gln71=) c.2814A>G (p.Gln938=) | ClinVar dbSNP |
1 | g.209617952T>G | CA344584733 | LAMB3 | c.3006A>C (p.Gln1002His) c.213A>C (p.Gln71His) c.2814A>C (p.Gln938His) | |
1 | g.209617952T= | CA2484296069 | LAMB3 | c.3006A= (p.Gln1002=) c.213A= (p.Gln71=) c.2814A= (p.Gln938=) | |
1 | g.209617953T>A | CA344584735 | LAMB3 | c.3005A>T (p.Gln1002Leu) c.212A>T (p.Gln71Leu) c.2813A>T (p.Gln938Leu) | gnomAD v4 |
1 | g.209617953T>C | CA344584736 | LAMB3 | c.3005A>G (p.Gln1002Arg) c.212A>G (p.Gln71Arg) c.2813A>G (p.Gln938Arg) | |
1 | g.209617953T>G | CA344584737 | LAMB3 | c.3005A>C (p.Gln1002Pro) c.212A>C (p.Gln71Pro) c.2813A>C (p.Gln938Pro) | |
1 | g.209617954G>A | CA344584738 | LAMB3 | c.3004C>T (p.Gln1002Ter) c.211C>T (p.Gln71Ter) c.2812C>T (p.Gln938Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617954G>C | CA344584739 | LAMB3 | c.3004C>G (p.Gln1002Glu) c.211C>G (p.Gln71Glu) c.2812C>G (p.Gln938Glu) | |
1 | g.209617954G= | CA2484296070 | LAMB3 | c.3004C= (p.Gln1002=) c.211C= (p.Gln71=) c.2812C= (p.Gln938=) | |
1 | g.209617954G>T | CA1375025 | LAMB3 | c.3004C>A (p.Gln1002Lys) c.211C>A (p.Gln71Lys) c.2812C>A (p.Gln938Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617955C>A | CA344584740 | LAMB3 | c.3003G>T (p.Met1001Ile) c.210G>T (p.Met70Ile) c.2811G>T (p.Met937Ile) | |
1 | g.209617955C= | CA2484296071 | LAMB3 | c.3003G= (p.Met1001=) c.210G= (p.Met70=) c.2811G= (p.Met937=) | |
1 | g.209617955C>G | CA344584741 | LAMB3 | c.3003G>C (p.Met1001Ile) c.210G>C (p.Met70Ile) c.2811G>C (p.Met937Ile) | |
1 | g.209617955C>T | CA344584742 | LAMB3 | c.3003G>A (p.Met1001Ile) c.210G>A (p.Met70Ile) c.2811G>A (p.Met937Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617956A= | CA2484296072 | LAMB3 | c.3002T= (p.Met1001=) c.209T= (p.Met70=) c.2810T= (p.Met937=) | |
1 | g.209617956A>C | CA1375026 | LAMB3 | c.3002T>G (p.Met1001Arg) c.209T>G (p.Met70Arg) c.2810T>G (p.Met937Arg) | dbSNP ExAC |
1 | g.209617956A>G | CA344584743 | LAMB3 | c.3002T>C (p.Met1001Thr) c.209T>C (p.Met70Thr) c.2810T>C (p.Met937Thr) | dbSNP gnomAD v4 |
1 | g.209617956A>T | CA344584744 | LAMB3 | c.3002T>A (p.Met1001Lys) c.209T>A (p.Met70Lys) c.2810T>A (p.Met937Lys) | |
1 | g.209617957T>A | CA344584747 | LAMB3 | c.3001A>T (p.Met1001Leu) c.208A>T (p.Met70Leu) c.2809A>T (p.Met937Leu) | |
1 | g.209617957T>C | CA344584746 | LAMB3 | c.3001A>G (p.Met1001Val) c.208A>G (p.Met70Val) c.2809A>G (p.Met937Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617957T>G | CA344584745 | LAMB3 | c.3001A>C (p.Met1001Leu) c.208A>C (p.Met70Leu) c.2809A>C (p.Met937Leu) | |
1 | g.209617957T= | CA2484296073 | LAMB3 | c.3001A= (p.Met1001=) c.208A= (p.Met70=) c.2809A= (p.Met937=) | |
1 | g.209617958G>A | CA423029738 | LAMB3 | c.3000C>T (p.Thr1000=) c.207C>T (p.Thr69=) c.2808C>T (p.Thr936=) | |
1 | g.209617958G>C | CA423029737 | LAMB3 | c.3000C>G (p.Thr1000=) c.207C>G (p.Thr69=) c.2808C>G (p.Thr936=) | |
1 | g.209617958G>T | CA423029736 | LAMB3 | c.3000C>A (p.Thr1000=) c.207C>A (p.Thr69=) c.2808C>A (p.Thr936=) | |
1 | g.209617959G>A | CA344584748 | LAMB3 | c.2999C>T (p.Thr1000Ile) c.206C>T (p.Thr69Ile) c.2807C>T (p.Thr936Ile) | |
1 | g.209617959G>C | CA344584750 | LAMB3 | c.2999C>G (p.Thr1000Ser) c.206C>G (p.Thr69Ser) c.2807C>G (p.Thr936Ser) | dbSNP gnomAD v4 |
1 | g.209617959G= | CA2484296074 | LAMB3 | c.2999C= (p.Thr1000=) c.206C= (p.Thr69=) c.2807C= (p.Thr936=) | |
1 | g.209617959G>T | CA344584749 | LAMB3 | c.2999C>A (p.Thr1000Asn) c.206C>A (p.Thr69Asn) c.2807C>A (p.Thr936Asn) | |
1 | g.209617960T>A | CA344584751 | LAMB3 | c.2998A>T (p.Thr1000Ser) c.205A>T (p.Thr69Ser) c.2806A>T (p.Thr936Ser) | |
1 | g.209617960T>C | CA344584752 | LAMB3 | c.2998A>G (p.Thr1000Ala) c.205A>G (p.Thr69Ala) c.2806A>G (p.Thr936Ala) | |
1 | g.209617960T>G | CA1375027 | LAMB3 | c.2998A>C (p.Thr1000Pro) c.205A>C (p.Thr69Pro) c.2806A>C (p.Thr936Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.209617960T= | CA2484296075 | LAMB3 | c.2998A= (p.Thr1000=) c.205A= (p.Thr69=) c.2806A= (p.Thr936=) | |
1 | g.209617961G>A | CA423029740 | LAMB3 | c.2997C>T (p.Asp999=) c.204C>T (p.Asp68=) c.2805C>T (p.Asp935=) | dbSNP |
1 | g.209617961G>C | CA344584753 | LAMB3 | c.2997C>G (p.Asp999Glu) c.204C>G (p.Asp68Glu) c.2805C>G (p.Asp935Glu) | |
1 | g.209617961G= | CA2484296076 | LAMB3 | c.2997C= (p.Asp999=) c.204C= (p.Asp68=) c.2805C= (p.Asp935=) | |
1 | g.209617961G>T | CA344584754 | LAMB3 | c.2997C>A (p.Asp999Glu) c.204C>A (p.Asp68Glu) c.2805C>A (p.Asp935Glu) | |
1 | g.209617962T>A | CA344584755 | LAMB3 | c.2996A>T (p.Asp999Val) c.203A>T (p.Asp68Val) c.2804A>T (p.Asp935Val) | |
1 | g.209617962T>C | CA344584756 | LAMB3 | c.2996A>G (p.Asp999Gly) c.203A>G (p.Asp68Gly) c.2804A>G (p.Asp935Gly) | |
1 | g.209617962T>G | CA344584757 | LAMB3 | c.2996A>C (p.Asp999Ala) c.203A>C (p.Asp68Ala) c.2804A>C (p.Asp935Ala) | |
1 | g.209617962dup | CA2650320430 | LAMB3 | c.2996dup (p.Asp999GlufsTer19) c.203dup (p.Asp68GlufsTer19) c.2804dup (p.Asp935GlufsTer19) | gnomAD v4 |
1 | g.209617963C>A | CA344584758 | LAMB3 | c.2995G>T (p.Asp999Tyr) c.202G>T (p.Asp68Tyr) c.2803G>T (p.Asp935Tyr) | dbSNP |
1 | g.209617963C= | CA2484296077 | LAMB3 | c.2995G= (p.Asp999=) c.202G= (p.Asp68=) c.2803G= (p.Asp935=) | |
1 | g.209617963C>G | CA344584759 | LAMB3 | c.2995G>C (p.Asp999His) c.202G>C (p.Asp68His) c.2803G>C (p.Asp935His) | |
1 | g.209617963C>T | CA344584760 | LAMB3 | c.2995G>A (p.Asp999Asn) c.202G>A (p.Asp68Asn) c.2803G>A (p.Asp935Asn) | |
1 | g.209617964C>A | CA36749899 | LAMB3 | c.2994G>T (p.Gln998His) c.201G>T (p.Gln67His) c.2802G>T (p.Gln934His) | dbSNP |
1 | g.209617964C= | CA2484296078 | LAMB3 | c.2994G= (p.Gln998=) c.201G= (p.Gln67=) c.2802G= (p.Gln934=) | |
1 | g.209617964C>G | CA344584761 | LAMB3 | c.2994G>C (p.Gln998His) c.201G>C (p.Gln67His) c.2802G>C (p.Gln934His) | |
1 | g.209617964C>T | CA423029744 | LAMB3 | c.2994G>A (p.Gln998=) c.201G>A (p.Gln67=) c.2802G>A (p.Gln934=) | ClinVar dbSNP |
1 | g.209617965T>A | CA344584762 | LAMB3 | c.2993A>T (p.Gln998Leu) c.200A>T (p.Gln67Leu) c.2801A>T (p.Gln934Leu) | |
1 | g.209617965T>C | CA344584763 | LAMB3 | c.2993A>G (p.Gln998Arg) c.200A>G (p.Gln67Arg) c.2801A>G (p.Gln934Arg) | |
1 | g.209617965T>G | CA344584764 | LAMB3 | c.2993A>C (p.Gln998Pro) c.200A>C (p.Gln67Pro) c.2801A>C (p.Gln934Pro) | |
1 | g.209617966G>A | CA344584765 | LAMB3 | c.2992C>T (p.Gln998Ter) c.199C>T (p.Gln67Ter) c.2800C>T (p.Gln934Ter) | ClinVar dbSNP |
1 | g.209617966G>C | CA344584766 | LAMB3 | c.2992C>G (p.Gln998Glu) c.199C>G (p.Gln67Glu) c.2800C>G (p.Gln934Glu) | gnomAD v4 |
1 | g.209617966G= | CA2484296079 | LAMB3 | c.2992C= (p.Gln998=) c.199C= (p.Gln67=) c.2800C= (p.Gln934=) | |
1 | g.209617966G>T | CA344584767 | LAMB3 | c.2992C>A (p.Gln998Lys) c.199C>A (p.Gln67Lys) c.2800C>A (p.Gln934Lys) | dbSNP |
1 | g.209617967A= | CA2484296080 | LAMB3 | c.2991T= (p.Ala997=) c.198T= (p.Ala66=) c.2799T= (p.Ala933=) | |
1 | g.209617967A>C | CA423029749 | LAMB3 | c.2991T>G (p.Ala997=) c.198T>G (p.Ala66=) c.2799T>G (p.Ala933=) | |
1 | g.209617967A>G | CA423029750 | LAMB3 | c.2991T>C (p.Ala997=) c.198T>C (p.Ala66=) c.2799T>C (p.Ala933=) | dbSNP |
1 | g.209617967A>T | CA423029751 | LAMB3 | c.2991T>A (p.Ala997=) c.198T>A (p.Ala66=) c.2799T>A (p.Ala933=) | |
1 | g.209617968G>A | CA344584768 | LAMB3 | c.2990C>T (p.Ala997Val) c.197C>T (p.Ala66Val) c.2798C>T (p.Ala933Val) | |
1 | g.209617968G>C | CA344584769 | LAMB3 | c.2990C>G (p.Ala997Gly) c.197C>G (p.Ala66Gly) c.2798C>G (p.Ala933Gly) | |
1 | g.209617968G>T | CA344584770 | LAMB3 | c.2990C>A (p.Ala997Asp) c.197C>A (p.Ala66Asp) c.2798C>A (p.Ala933Asp) | |
1 | g.209617969C>A | CA344584771 | LAMB3 | c.2989G>T (p.Ala997Ser) c.196G>T (p.Ala66Ser) c.2797G>T (p.Ala933Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617969C= | CA2484296081 | LAMB3 | c.2989G= (p.Ala997=) c.196G= (p.Ala66=) c.2797G= (p.Ala933=) | |
1 | g.209617969C>G | CA344584772 | LAMB3 | c.2989G>C (p.Ala997Pro) c.196G>C (p.Ala66Pro) c.2797G>C (p.Ala933Pro) | |
1 | g.209617969C>T | CA344584773 | LAMB3 | c.2989G>A (p.Ala997Thr) c.196G>A (p.Ala66Thr) c.2797G>A (p.Ala933Thr) | gnomAD v4 |
1 | g.209617970T>A | CA344584775 | LAMB3 | c.2988A>T (p.Glu996Asp) c.195A>T (p.Glu65Asp) c.2796A>T (p.Glu932Asp) | |
1 | g.209617970T>C | CA36749901 | LAMB3 | c.2988A>G (p.Glu996=) c.195A>G (p.Glu65=) c.2796A>G (p.Glu932=) | ClinVar dbSNP |
1 | g.209617970T>G | CA344584774 | LAMB3 | c.2988A>C (p.Glu996Asp) c.195A>C (p.Glu65Asp) c.2796A>C (p.Glu932Asp) | |
1 | g.209617970T= | CA2484296082 | LAMB3 | c.2988A= (p.Glu996=) c.195A= (p.Glu65=) c.2796A= (p.Glu932=) | |
1 | g.209617971T>A | CA344584776 | LAMB3 | c.2987A>T (p.Glu996Val) c.194A>T (p.Glu65Val) c.2795A>T (p.Glu932Val) | |
1 | g.209617971T>C | CA344584777 | LAMB3 | c.2987A>G (p.Glu996Gly) c.194A>G (p.Glu65Gly) c.2795A>G (p.Glu932Gly) | |
1 | g.209617971T>G | CA344584778 | LAMB3 | c.2987A>C (p.Glu996Ala) c.194A>C (p.Glu65Ala) c.2795A>C (p.Glu932Ala) | |
1 | g.209617972C>A | CA344584779 | LAMB3 | c.2986G>T (p.Glu996Ter) c.193G>T (p.Glu65Ter) c.2794G>T (p.Glu932Ter) | |
1 | g.209617972C>G | CA344584780 | LAMB3 | c.2986G>C (p.Glu996Gln) c.193G>C (p.Glu65Gln) c.2794G>C (p.Glu932Gln) | |
1 | g.209617972C>T | CA344584781 | LAMB3 | c.2986G>A (p.Glu996Lys) c.193G>A (p.Glu65Lys) c.2794G>A (p.Glu932Lys) | COSMIC |