Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209630583C>A | CA2650323773 | LAMB3 | c.943+32G>T (n.943+32G>T) c.751+32G>T (n.751+32G>T) | gnomAD v4 |
1 | g.209630583C= | CA2484301156 | LAMB3 | c.943+32G= (n.943+32G=) c.751+32G= (n.751+32G=) | |
1 | g.209630583C>G | CA528652858 | LAMB3 | c.943+32G>C (n.943+32G>C) c.751+32G>C (n.751+32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630584C= | CA1144477969 | LAMB3 | c.943+31G= (n.943+31G=) c.751+31G= (n.751+31G=) | |
1 | g.209630584C>G | CA1011768402 | LAMB3 | c.943+31G>C (n.943+31G>C) c.751+31G>C (n.751+31G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630584C>T | CA1375766 | LAMB3 | c.943+31G>A (n.943+31G>A) c.751+31G>A (n.751+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630585T>C | CA2650323774 | LAMB3 | c.943+30A>G (n.943+30A>G) c.751+30A>G (n.751+30A>G) | gnomAD v4 |
1 | g.209630586A= | CA2484301157 | LAMB3 | c.943+29T= (n.943+29T=) c.751+29T= (n.751+29T=) | |
1 | g.209630586A>G | CA36758811 | LAMB3 | c.943+29T>C (n.943+29T>C) c.751+29T>C (n.751+29T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630587C>A | CA2484301159 | LAMB3 | c.943+28G>T (n.943+28G>T) c.751+28G>T (n.751+28G>T) | dbSNP gnomAD v4 |
1 | g.209630587C= | CA2484301158 | LAMB3 | c.943+28G= (n.943+28G=) c.751+28G= (n.751+28G=) | |
1 | g.209630588A= | CA2484301160 | LAMB3 | c.943+27T= (n.943+27T=) c.751+27T= (n.751+27T=) | |
1 | g.209630588A>G | CA2484301161 | LAMB3 | c.943+27T>C (n.943+27T>C) c.751+27T>C (n.751+27T>C) | dbSNP gnomAD v4 |
1 | g.209630589G>A | CA2484301162 | LAMB3 | c.943+26C>T (n.943+26C>T) c.751+26C>T (n.751+26C>T) | dbSNP gnomAD v4 |
1 | g.209630589G>C | CA2650323775 | LAMB3 | c.943+26C>G (n.943+26C>G) c.751+26C>G (n.751+26C>G) | gnomAD v4 |
1 | g.209630589G= | CA2484301163 | LAMB3 | c.943+26C= (n.943+26C=) c.751+26C= (n.751+26C=) | |
1 | g.209630590G>A | CA2650323776 | LAMB3 | c.943+25C>T (n.943+25C>T) c.751+25C>T (n.751+25C>T) | gnomAD v4 |
1 | g.209630590G>C | CA2574003763 | LAMB3 | c.943+25C>G (n.943+25C>G) c.751+25C>G (n.751+25C>G) | |
1 | g.209630590G>T | CA2747563244 | LAMB3 | c.943+25C>A (n.943+25C>A) c.751+25C>A (n.751+25C>A) | |
1 | g.209630591G>T | CA2747563245 | LAMB3 | c.943+24C>A (n.943+24C>A) c.751+24C>A (n.751+24C>A) | |
1 | g.209630592G>A | CA1375768 | LAMB3 | c.943+23C>T (n.943+23C>T) c.751+23C>T (n.751+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630592G= | CA1143613428 | LAMB3 | c.943+23C= (n.943+23C=) c.751+23C= (n.751+23C=) | |
1 | g.209630592G>T | CA1375767 | LAMB3 | c.943+23C>A (n.943+23C>A) c.751+23C>A (n.751+23C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630593A= | CA2484301164 | LAMB3 | c.943+22T= (n.943+22T=) c.751+22T= (n.751+22T=) | |
1 | g.209630593A>T | CA528652859 | LAMB3 | c.943+22T>A (n.943+22T>A) c.751+22T>A (n.751+22T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630594G>T | CA2574003771 | LAMB3 | c.943+21C>A (n.943+21C>A) c.751+21C>A (n.751+21C>A) | gnomAD v4 |
1 | g.209630595G= | CA2484301165 | LAMB3 | c.943+20C= (n.943+20C=) c.751+20C= (n.751+20C=) | |
1 | g.209630595G>T | CA2650323777 | LAMB3 | c.943+20C>A (n.943+20C>A) c.751+20C>A (n.751+20C>A) | gnomAD v4 |
1 | g.209630596G>A | CA36758822 | LAMB3 | c.943+19C>T (n.943+19C>T) c.751+19C>T (n.751+19C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630596G= | CA1143837723 | LAMB3 | c.943+19C= (n.943+19C=) c.751+19C= (n.751+19C=) | |
1 | g.209630597_209630599dup | CA1375769 | LAMB3 | c.943+17_943+19dup (n.943+17_943+19dup) c.751+17_751+19dup (n.751+17_751+19dup) | dbSNP ExAC gnomAD v2 |
1 | g.209630596_209630597insT | CA1375770 | LAMB3 | c.943+18_943+19insA (n.943+18_943+19insA) c.751+18_751+19insA (n.751+18_751+19insA) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630597G>A | CA2581696675 | LAMB3 | c.943+18C>T (n.943+18C>T) c.751+18C>T (n.751+18C>T) | |
1 | g.209630597G>C | CA2581696674 | LAMB3 | c.943+18C>G (n.943+18C>G) c.751+18C>G (n.751+18C>G) | |
1 | g.209630597G= | CA1140157230 | LAMB3 | c.943+18C= (n.943+18C=) c.751+18C= (n.751+18C=) | |
1 | g.209630597G>T | CA1375771 | LAMB3 | c.943+18C>A (n.943+18C>A) c.751+18C>A (n.751+18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630600A>T | CA2574003845 | LAMB3 | c.943+15T>A (n.943+15T>A) c.751+15T>A (n.751+15T>A) | ClinVar |
1 | g.209630601T>C | CA2650323778 | LAMB3 | c.943+14A>G (n.943+14A>G) c.751+14A>G (n.751+14A>G) | gnomAD v4 |
1 | g.209630603C= | CA2484301166 | LAMB3 | c.943+12G= (n.943+12G=) c.751+12G= (n.751+12G=) | |
1 | g.209630603C>G | CA1375772 | LAMB3 | c.943+12G>C (n.943+12G>C) c.751+12G>C (n.751+12G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630603C>T | CA2650323779 | LAMB3 | c.943+12G>A (n.943+12G>A) c.751+12G>A (n.751+12G>A) | gnomAD v4 |
1 | g.209630604A= | CA2484301167 | LAMB3 | c.943+11T= (n.943+11T=) c.751+11T= (n.751+11T=) | |
1 | g.209630604A>C | CA1375773 | LAMB3 | c.943+11T>G (n.943+11T>G) c.751+11T>G (n.751+11T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630604A>G | CA2484301168 | LAMB3 | c.943+11T>C (n.943+11T>C) c.751+11T>C (n.751+11T>C) | dbSNP |
1 | g.209630605A>T | CA2580062014 | LAMB3 | c.943+10T>A (n.943+10T>A) c.751+10T>A (n.751+10T>A) | ClinVar |
1 | g.209630608C>A | CA2574003850 | LAMB3 | c.943+7G>T (n.943+7G>T) c.751+7G>T (n.751+7G>T) | gnomAD v4 |
1 | g.209630608C= | CA1143578885 | LAMB3 | c.943+7G= (n.943+7G=) c.751+7G= (n.751+7G=) | |
1 | g.209630608C>T | CA36758830 | LAMB3 | c.943+7G>A (n.943+7G>A) c.751+7G>A (n.751+7G>A) | dbSNP |
1 | g.209630611C>A | CA2574003851 | LAMB3 | c.943+4G>T (n.943+4G>T) c.751+4G>T (n.751+4G>T) | |
1 | g.209630612T>C | CA528652860 | LAMB3 | c.943+3A>G (n.943+3A>G) c.751+3A>G (n.751+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630612T= | CA2484301169 | LAMB3 | c.943+3A= (n.943+3A=) c.751+3A= (n.751+3A=) | |
1 | g.209630613A= | CA2484301170 | LAMB3 | c.943+2T= (n.943+2T=) c.751+2T= (n.751+2T=) | |
1 | g.209630613A>C | CA344593185 | LAMB3 | c.943+2T>G (n.943+2T>G) c.751+2T>G (n.751+2T>G) | ClinVar dbSNP |
1 | g.209630613A>G | CA344593188 | LAMB3 | c.943+2T>C (n.943+2T>C) c.751+2T>C (n.751+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630613A>T | CA344593191 | LAMB3 | c.943+2T>A (n.943+2T>A) c.751+2T>A (n.751+2T>A) | ClinVar dbSNP |
1 | g.209630614C>A | CA344593200 | LAMB3 | c.943+1G>T (n.943+1G>T) c.751+1G>T (n.751+1G>T) | |
1 | g.209630614C= | CA2484301171 | LAMB3 | c.943+1G= (n.943+1G=) c.751+1G= (n.751+1G=) | |
1 | g.209630614C>G | CA344593197 | LAMB3 | c.943+1G>C (n.943+1G>C) c.751+1G>C (n.751+1G>C) | ClinVar dbSNP |
1 | g.209630614C>T | CA344593194 | LAMB3 | c.943+1G>A (n.943+1G>A) c.751+1G>A (n.751+1G>A) | ClinVar dbSNP |
1 | g.209630615T>A | CA344593204 | LAMB3 | c.943A>T (p.Arg315Trp) c.751A>T (p.Arg251Trp) | |
1 | g.209630615T>C | CA344593206 | LAMB3 | c.943A>G (p.Arg315Gly) c.751A>G (p.Arg251Gly) | COSMIC |
1 | g.209630615T>G | CA10609593 | LAMB3 | c.943A>C (p.Arg315=) c.751A>C (p.Arg251=) | ClinVar dbSNP gnomAD v4 |
1 | g.209630615T= | CA2484301172 | LAMB3 | c.943A= (p.Arg315=) c.751A= (p.Arg251=) | |
1 | g.209630616T>A | CA344593215 | LAMB3 | c.942A>T (p.Gln314His) c.750A>T (p.Gln250His) | |
1 | g.209630616T>C | CA423032414 | LAMB3 | c.942A>G (p.Gln314=) c.750A>G (p.Gln250=) | gnomAD v4 |
1 | g.209630616T>G | CA344593217 | LAMB3 | c.942A>C (p.Gln314His) c.750A>C (p.Gln250His) | |
1 | g.209630616T= | CA2484301173 | LAMB3 | c.942A= (p.Gln314=) c.750A= (p.Gln250=) | |
1 | g.209630616_209630617insA | CA1375774 | LAMB3 | c.941_942insT (p.Gln314HisfsTer15) c.749_750insT (p.Gln250HisfsTer15) | dbSNP ExAC |
1 | g.209630617T>A | CA344593223 | LAMB3 | c.941A>T (p.Gln314Leu) c.749A>T (p.Gln250Leu) | |
1 | g.209630617T>C | CA344593225 | LAMB3 | c.941A>G (p.Gln314Arg) c.749A>G (p.Gln250Arg) | |
1 | g.209630617T>G | CA1375775 | LAMB3 | c.941A>C (p.Gln314Pro) c.749A>C (p.Gln250Pro) | dbSNP ExAC |
1 | g.209630617T= | CA2484301174 | LAMB3 | c.941A= (p.Gln314=) c.749A= (p.Gln250=) | |
1 | g.209630618G>A | CA344593230 | LAMB3 | c.940C>T (p.Gln314Ter) c.748C>T (p.Gln250Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209630618G>C | CA344593232 | LAMB3 | c.940C>G (p.Gln314Glu) c.748C>G (p.Gln250Glu) | |
1 | g.209630618G= | CA2484301175 | LAMB3 | c.940C= (p.Gln314=) c.748C= (p.Gln250=) | |
1 | g.209630618G>T | CA344593234 | LAMB3 | c.940C>A (p.Gln314Lys) c.748C>A (p.Gln250Lys) | |
1 | g.209630619G>A | CA1375776 | LAMB3 | c.939C>T (p.Cys313=) c.747C>T (p.Cys249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630619G>C | CA344593242 | LAMB3 | c.939C>G (p.Cys313Trp) c.747C>G (p.Cys249Trp) | |
1 | g.209630619G= | CA2484301176 | LAMB3 | c.939C= (p.Cys313=) c.747C= (p.Cys249=) | |
1 | g.209630619G>T | CA344593238 | LAMB3 | c.939C>A (p.Cys313Ter) c.747C>A (p.Cys249Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209630620C>A | CA344593245 | LAMB3 | c.938G>T (p.Cys313Phe) c.746G>T (p.Cys249Phe) | |
1 | g.209630620C>G | CA344593247 | LAMB3 | c.938G>C (p.Cys313Ser) c.746G>C (p.Cys249Ser) | |
1 | g.209630620C>T | CA344593250 | LAMB3 | c.938G>A (p.Cys313Tyr) c.746G>A (p.Cys249Tyr) | gnomAD v4 |
1 | g.209630621A>C | CA344593252 | LAMB3 | c.937T>G (p.Cys313Gly) c.745T>G (p.Cys249Gly) | |
1 | g.209630621A>G | CA344593254 | LAMB3 | c.937T>C (p.Cys313Arg) c.745T>C (p.Cys249Arg) | |
1 | g.209630621A>T | CA344593256 | LAMB3 | c.937T>A (p.Cys313Ser) c.745T>A (p.Cys249Ser) | |
1 | g.209630622T>A | CA344593260 | LAMB3 | c.936A>T (p.Glu312Asp) c.744A>T (p.Glu248Asp) | |
1 | g.209630622T>C | CA1375777 | LAMB3 | c.936A>G (p.Glu312=) c.744A>G (p.Glu248=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630622T>G | CA344593263 | LAMB3 | c.936A>C (p.Glu312Asp) c.744A>C (p.Glu248Asp) | |
1 | g.209630622T= | CA2484301177 | LAMB3 | c.936A= (p.Glu312=) c.744A= (p.Glu248=) | |
1 | g.209630623T>A | CA344593265 | LAMB3 | c.935A>T (p.Glu312Val) c.743A>T (p.Glu248Val) | |
1 | g.209630623T>C | CA344593267 | LAMB3 | c.935A>G (p.Glu312Gly) c.743A>G (p.Glu248Gly) | |
1 | g.209630623T>G | CA344593270 | LAMB3 | c.935A>C (p.Glu312Ala) c.743A>C (p.Glu248Ala) | |
1 | g.209630624C>A | CA344593277 | LAMB3 | c.934G>T (p.Glu312Ter) c.742G>T (p.Glu248Ter) | |
1 | g.209630624C>G | CA344593279 | LAMB3 | c.934G>C (p.Glu312Gln) c.742G>C (p.Glu248Gln) | |
1 | g.209630624C>T | CA344593274 | LAMB3 | c.934G>A (p.Glu312Lys) c.742G>A (p.Glu248Lys) | |
1 | g.209630625A= | CA2484301178 | LAMB3 | c.933T= (p.His311=) c.741T= (p.His247=) | |
1 | g.209630625A>C | CA344593281 | LAMB3 | c.933T>G (p.His311Gln) c.741T>G (p.His247Gln) | |
1 | g.209630625A>G | CA423032416 | LAMB3 | c.933T>C (p.His311=) c.741T>C (p.His247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630625A>T | CA344593283 | LAMB3 | c.933T>A (p.His311Gln) c.741T>A (p.His247Gln) | |
1 | g.209630626T>A | CA344593286 | LAMB3 | c.932A>T (p.His311Leu) c.740A>T (p.His247Leu) | |
1 | g.209630626T>C | CA344593289 | LAMB3 | c.932A>G (p.His311Arg) c.740A>G (p.His247Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630626T>G | CA344593290 | LAMB3 | c.932A>C (p.His311Pro) c.740A>C (p.His247Pro) | |
1 | g.209630626T= | CA2484301179 | LAMB3 | c.932A= (p.His311=) c.740A= (p.His247=) | |
1 | g.209630627G>A | CA344593298 | LAMB3 | c.931C>T (p.His311Tyr) c.739C>T (p.His247Tyr) | |
1 | g.209630627G>C | CA344593294 | LAMB3 | c.931C>G (p.His311Asp) c.739C>G (p.His247Asp) | |
1 | g.209630627G>T | CA344593296 | LAMB3 | c.931C>A (p.His311Asn) c.739C>A (p.His247Asn) | |
1 | g.209630628G>A | CA423032417 | LAMB3 | c.930C>T (p.Ala310=) c.738C>T (p.Ala246=) | |
1 | g.209630628G>C | CA423032418 | LAMB3 | c.930C>G (p.Ala310=) c.738C>G (p.Ala246=) | |
1 | g.209630628G>T | CA423032419 | LAMB3 | c.930C>A (p.Ala310=) c.738C>A (p.Ala246=) | |
1 | g.209630629G>A | CA1375778 | LAMB3 | c.929C>T (p.Ala310Val) c.737C>T (p.Ala246Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630629G>C | CA344593304 | LAMB3 | c.929C>G (p.Ala310Gly) c.737C>G (p.Ala246Gly) | |
1 | g.209630629G= | CA1143372629 | LAMB3 | c.929C= (p.Ala310=) c.737C= (p.Ala246=) | |
1 | g.209630629G>T | CA344593306 | LAMB3 | c.929C>A (p.Ala310Asp) c.737C>A (p.Ala246Asp) | |
1 | g.209630630C>A | CA344593308 | LAMB3 | c.928G>T (p.Ala310Ser) c.736G>T (p.Ala246Ser) | dbSNP |
1 | g.209630630C= | CA1141729199 | LAMB3 | c.928G= (p.Ala310=) c.736G= (p.Ala246=) | |
1 | g.209630630C>G | CA344593311 | LAMB3 | c.928G>C (p.Ala310Pro) c.736G>C (p.Ala246Pro) | |
1 | g.209630630C>T | CA1375779 | LAMB3 | c.928G>A (p.Ala310Thr) c.736G>A (p.Ala246Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630631G>A | CA1375780 | LAMB3 | c.927C>T (p.Asp309=) c.735C>T (p.Asp245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630631G>C | CA344593318 | LAMB3 | c.927C>G (p.Asp309Glu) c.735C>G (p.Asp245Glu) | |
1 | g.209630631G= | CA1141781904 | LAMB3 | c.927C= (p.Asp309=) c.735C= (p.Asp245=) | |
1 | g.209630631G>T | CA1375781 | LAMB3 | c.927C>A (p.Asp309Glu) c.735C>A (p.Asp245Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630632T>A | CA344593322 | LAMB3 | c.926A>T (p.Asp309Val) c.734A>T (p.Asp245Val) | |
1 | g.209630632T>C | CA344593326 | LAMB3 | c.926A>G (p.Asp309Gly) c.734A>G (p.Asp245Gly) | gnomAD v4 |
1 | g.209630632T>G | CA344593324 | LAMB3 | c.926A>C (p.Asp309Ala) c.734A>C (p.Asp245Ala) | |
1 | g.209630633C>A | CA344593330 | LAMB3 | c.925G>T (p.Asp309Tyr) c.733G>T (p.Asp245Tyr) | |
1 | g.209630633C>G | CA344593335 | LAMB3 | c.925G>C (p.Asp309His) c.733G>C (p.Asp245His) | |
1 | g.209630633C>T | CA344593332 | LAMB3 | c.925G>A (p.Asp309Asn) c.733G>A (p.Asp245Asn) | |
1 | g.209630634C>A | CA344593338 | LAMB3 | c.924G>T (p.Gln308His) c.732G>T (p.Gln244His) | |
1 | g.209630634C= | CA2484301180 | LAMB3 | c.924G= (p.Gln308=) c.732G= (p.Gln244=) | |
1 | g.209630634C>G | CA344593340 | LAMB3 | c.924G>C (p.Gln308His) c.732G>C (p.Gln244His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630634C>T | CA423032420 | LAMB3 | c.924G>A (p.Gln308=) c.732G>A (p.Gln244=) | gnomAD v4 |
1 | g.209630635T>A | CA344593344 | LAMB3 | c.923A>T (p.Gln308Leu) c.731A>T (p.Gln244Leu) | |
1 | g.209630635T>C | CA344593347 | LAMB3 | c.923A>G (p.Gln308Arg) c.731A>G (p.Gln244Arg) | |
1 | g.209630635T>G | CA344593346 | LAMB3 | c.923A>C (p.Gln308Pro) c.731A>C (p.Gln244Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630635T= | CA2484301181 | LAMB3 | c.923A= (p.Gln308=) c.731A= (p.Gln244=) | |
1 | g.209630636G>A | CA36758854 | LAMB3 | c.922C>T (p.Gln308Ter) c.730C>T (p.Gln244Ter) | dbSNP gnomAD v4 |
1 | g.209630636G>C | CA344593350 | LAMB3 | c.922C>G (p.Gln308Glu) c.730C>G (p.Gln244Glu) | |
1 | g.209630636G= | CA2484301182 | LAMB3 | c.922C= (p.Gln308=) c.730C= (p.Gln244=) | |
1 | g.209630636G>T | CA1375782 | LAMB3 | c.922C>A (p.Gln308Lys) c.730C>A (p.Gln244Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630637G>A | CA423032421 | LAMB3 | c.921C>T (p.Gly307=) c.729C>T (p.Gly243=) | |
1 | g.209630637G>C | CA423032422 | LAMB3 | c.921C>G (p.Gly307=) c.729C>G (p.Gly243=) | |
1 | g.209630637G>T | CA423032423 | LAMB3 | c.921C>A (p.Gly307=) c.729C>A (p.Gly243=) | |
1 | g.209630637_209630638delinsGC | CA2484301183 | LAMB3 | c.920_921delinsGC (p.Gly307=) c.728_729delinsGC (p.Gly243=) | |
1 | g.209630638C>A | CA1375784 | LAMB3 | c.920G>T (p.Gly307Val) c.728G>T (p.Gly243Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630638C= | CA2484301184 | LAMB3 | c.920G= (p.Gly307=) c.728G= (p.Gly243=) | |
1 | g.209630638C>G | CA344593358 | LAMB3 | c.920G>C (p.Gly307Ala) c.728G>C (p.Gly243Ala) | |
1 | g.209630638C>T | CA1375783 | LAMB3 | c.920G>A (p.Gly307Asp) c.728G>A (p.Gly243Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209630640del | CA16040699 | LAMB3 | c.920del (p.Gly307AlafsTer?) c.728del (p.Gly243AlafsTer?) | ClinVar dbSNP |
1 | g.209630639C>A | CA344593370 | LAMB3 | c.919G>T (p.Gly307Cys) c.727G>T (p.Gly243Cys) | |
1 | g.209630639C>G | CA344593366 | LAMB3 | c.919G>C (p.Gly307Arg) c.727G>C (p.Gly243Arg) | |
1 | g.209630639C>T | CA344593368 | LAMB3 | c.919G>A (p.Gly307Ser) c.727G>A (p.Gly243Ser) | |
1 | g.209630640C>A | CA344593373 | LAMB3 | c.918G>T (p.Glu306Asp) c.726G>T (p.Glu242Asp) | gnomAD v4 |
1 | g.209630640C= | CA2484301185 | LAMB3 | c.918G= (p.Glu306=) c.726G= (p.Glu242=) | |
1 | g.209630640C>G | CA344593376 | LAMB3 | c.918G>C (p.Glu306Asp) c.726G>C (p.Glu242Asp) | dbSNP |
1 | g.209630640C>T | CA36758865 | LAMB3 | c.918G>A (p.Glu306=) c.726G>A (p.Glu242=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630641T>A | CA344593378 | LAMB3 | c.917A>T (p.Glu306Val) c.725A>T (p.Glu242Val) | |
1 | g.209630641T>C | CA344593380 | LAMB3 | c.917A>G (p.Glu306Gly) c.725A>G (p.Glu242Gly) | |
1 | g.209630641T>G | CA344593385 | LAMB3 | c.917A>C (p.Glu306Ala) c.725A>C (p.Glu242Ala) | |
1 | g.209630642C>A | CA344593389 | LAMB3 | c.916G>T (p.Glu306Ter) c.724G>T (p.Glu242Ter) | |
1 | g.209630642C>G | CA344593393 | LAMB3 | c.916G>C (p.Glu306Gln) c.724G>C (p.Glu242Gln) | |
1 | g.209630642C>T | CA344593391 | LAMB3 | c.916G>A (p.Glu306Lys) c.724G>A (p.Glu242Lys) | COSMIC |
1 | g.209630643C>A | CA423032424 | LAMB3 | c.915G>T (p.Ala305=) c.723G>T (p.Ala241=) | |
1 | g.209630643C= | CA2484301186 | LAMB3 | c.915G= (p.Ala305=) c.723G= (p.Ala241=) | |
1 | g.209630643C>G | CA423032425 | LAMB3 | c.915G>C (p.Ala305=) c.723G>C (p.Ala241=) | |
1 | g.209630643C>T | CA1375785 | LAMB3 | c.915G>A (p.Ala305=) c.723G>A (p.Ala241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630644G>A | CA1375786 | LAMB3 | c.914C>T (p.Ala305Val) c.722C>T (p.Ala241Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630644G>C | CA344593400 | LAMB3 | c.914C>G (p.Ala305Gly) c.722C>G (p.Ala241Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630644G= | CA2484301187 | LAMB3 | c.914C= (p.Ala305=) c.722C= (p.Ala241=) | |
1 | g.209630644G>T | CA344593403 | LAMB3 | c.914C>A (p.Ala305Glu) c.722C>A (p.Ala241Glu) | |
1 | g.209630645C>A | CA344593406 | LAMB3 | c.913G>T (p.Ala305Ser) c.721G>T (p.Ala241Ser) | |
1 | g.209630645C>G | CA344593409 | LAMB3 | c.913G>C (p.Ala305Pro) c.721G>C (p.Ala241Pro) | |
1 | g.209630645C>T | CA344593411 | LAMB3 | c.913G>A (p.Ala305Thr) c.721G>A (p.Ala241Thr) | |
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 |
1 | g.209630659C= | CA1144142969 | LAMB3 | c.899G= (p.Arg300=) c.707G= (p.Arg236=) | |
1 | g.209630659C>G | CA344593493 | LAMB3 | c.899G>C (p.Arg300Pro) c.707G>C (p.Arg236Pro) | |
1 | g.209630659C>T | CA1375790 | LAMB3 | c.899G>A (p.Arg300Gln) c.707G>A (p.Arg236Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630660G>A | CA1375791 | LAMB3 | c.898C>T (p.Arg300Trp) c.706C>T (p.Arg236Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630660G>C | CA344593500 | LAMB3 | c.898C>G (p.Arg300Gly) c.706C>G (p.Arg236Gly) | |
1 | g.209630660G= | CA1143623255 | LAMB3 | c.898C= (p.Arg300=) c.706C= (p.Arg236=) | |
1 | g.209630660G>T | CA423032436 | LAMB3 | c.898C>A (p.Arg300=) c.706C>A (p.Arg236=) | |
1 | g.209630661G>A | CA423032437 | LAMB3 | c.897C>T (p.Asn299=) c.705C>T (p.Asn235=) | |
1 | g.209630661G>C | CA344593502 | LAMB3 | c.897C>G (p.Asn299Lys) c.705C>G (p.Asn235Lys) | |
1 | g.209630661G>T | CA344593505 | LAMB3 | c.897C>A (p.Asn299Lys) c.705C>A (p.Asn235Lys) | |
1 | g.209630662T>A | CA344593507 | LAMB3 | c.896A>T (p.Asn299Ile) c.704A>T (p.Asn235Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630662T>C | CA344593510 | LAMB3 | c.896A>G (p.Asn299Ser) c.704A>G (p.Asn235Ser) | dbSNP |
1 | g.209630662T>G | CA344593512 | LAMB3 | c.896A>C (p.Asn299Thr) c.704A>C (p.Asn235Thr) | |
1 | g.209630662T= | CA2484301193 | LAMB3 | c.896A= (p.Asn299=) c.704A= (p.Asn235=) | |
1 | g.209630663T>A | CA344593515 | LAMB3 | c.895A>T (p.Asn299Tyr) c.703A>T (p.Asn235Tyr) | |
1 | g.209630663T>C | CA344593518 | LAMB3 | c.895A>G (p.Asn299Asp) c.703A>G (p.Asn235Asp) | |
1 | g.209630663T>G | CA344593520 | LAMB3 | c.895A>C (p.Asn299His) c.703A>C (p.Asn235His) | |
1 | g.209630664G>A | CA423032438 | LAMB3 | c.894C>T (p.Asn298=) c.702C>T (p.Asn234=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630664G>C | CA344593523 | LAMB3 | c.894C>G (p.Asn298Lys) c.702C>G (p.Asn234Lys) | |
1 | g.209630664G= | CA2484301194 | LAMB3 | c.894C= (p.Asn298=) c.702C= (p.Asn234=) | |
1 | g.209630664G>T | CA344593526 | LAMB3 | c.894C>A (p.Asn298Lys) c.702C>A (p.Asn234Lys) | |
1 | g.209630665T>A | CA344593529 | LAMB3 | c.893A>T (p.Asn298Ile) c.701A>T (p.Asn234Ile) | |
1 | g.209630665T>C | CA1375792 | LAMB3 | c.893A>G (p.Asn298Ser) c.701A>G (p.Asn234Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630665T>G | CA344593534 | LAMB3 | c.893A>C (p.Asn298Thr) c.701A>C (p.Asn234Thr) | |
1 | g.209630665T= | CA2484301195 | LAMB3 | c.893A= (p.Asn298=) c.701A= (p.Asn234=) | |
1 | g.209630666T>A | CA344593542 | LAMB3 | c.892A>T (p.Asn298Tyr) c.700A>T (p.Asn234Tyr) | |
1 | g.209630666T>C | CA344593540 | LAMB3 | c.892A>G (p.Asn298Asp) c.700A>G (p.Asn234Asp) | |
1 | g.209630666T>G | CA344593538 | LAMB3 | c.892A>C (p.Asn298His) c.700A>C (p.Asn234His) | |
1 | g.209630667G>A | CA1375793 | LAMB3 | c.891C>T (p.Tyr297=) c.699C>T (p.Tyr233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630667G>C | CA344593548 | LAMB3 | c.891C>G (p.Tyr297Ter) c.699C>G (p.Tyr233Ter) | ClinVar |
1 | g.209630667G= | CA1143797254 | LAMB3 | c.891C= (p.Tyr297=) c.699C= (p.Tyr233=) | |
1 | g.209630667G>T | CA344593551 | LAMB3 | c.891C>A (p.Tyr297Ter) c.699C>A (p.Tyr233Ter) | |
1 | g.209630668_209630670del | CA2650323780 | LAMB3 | c.889_891del (p.Tyr297del) c.697_699del (p.Tyr233del) | gnomAD v4 |
1 | g.209630668T>A | CA344593558 | LAMB3 | c.890A>T (p.Tyr297Phe) c.698A>T (p.Tyr233Phe) | |
1 | g.209630668T>C | CA344593560 | LAMB3 | c.890A>G (p.Tyr297Cys) c.698A>G (p.Tyr233Cys) | gnomAD v4 |
1 | g.209630668T>G | CA344593563 | LAMB3 | c.890A>C (p.Tyr297Ser) c.698A>C (p.Tyr233Ser) | COSMIC |
1 | g.209630669A>C | CA344593567 | LAMB3 | c.889T>G (p.Tyr297Asp) c.697T>G (p.Tyr233Asp) | |
1 | g.209630669A>G | CA344593569 | LAMB3 | c.889T>C (p.Tyr297His) c.697T>C (p.Tyr233His) | |
1 | g.209630669A>T | CA344593571 | LAMB3 | c.889T>A (p.Tyr297Asn) c.697T>A (p.Tyr233Asn) | |
1 | g.209630670G>A | CA423032439 | LAMB3 | c.888C>T (p.Phe296=) c.696C>T (p.Phe232=) | |
1 | g.209630670G>C | CA344593575 | LAMB3 | c.888C>G (p.Phe296Leu) c.696C>G (p.Phe232Leu) | |
1 | g.209630670G= | CA2484301196 | LAMB3 | c.888C= (p.Phe296=) c.696C= (p.Phe232=) | |
1 | g.209630670G>T | CA344593576 | LAMB3 | c.888C>A (p.Phe296Leu) c.696C>A (p.Phe232Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630671A>C | CA344593579 | LAMB3 | c.887T>G (p.Phe296Cys) c.695T>G (p.Phe232Cys) | |
1 | g.209630671A>G | CA344593581 | LAMB3 | c.887T>C (p.Phe296Ser) c.695T>C (p.Phe232Ser) | |
1 | g.209630671A>T | CA344593583 | LAMB3 | c.887T>A (p.Phe296Tyr) c.695T>A (p.Phe232Tyr) | |
1 | g.209630672A= | CA2484301197 | LAMB3 | c.886T= (p.Phe296=) c.694T= (p.Phe232=) | |
1 | g.209630672A>C | CA344593588 | LAMB3 | c.886T>G (p.Phe296Val) c.694T>G (p.Phe232Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209630672A>G | CA344593590 | LAMB3 | c.886T>C (p.Phe296Leu) c.694T>C (p.Phe232Leu) | |
1 | g.209630672A>T | CA344593585 | LAMB3 | c.886T>A (p.Phe296Ile) c.694T>A (p.Phe232Ile) | |
1 | g.209630673G>A | CA423032440 | LAMB3 | c.885C>T (p.Pro295=) c.693C>T (p.Pro231=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630673G>C | CA423032441 | LAMB3 | c.885C>G (p.Pro295=) c.693C>G (p.Pro231=) | |
1 | g.209630673G= | CA2484301198 | LAMB3 | c.885C= (p.Pro295=) c.693C= (p.Pro231=) | |
1 | g.209630673G>T | CA423032442 | LAMB3 | c.885C>A (p.Pro295=) c.693C>A (p.Pro231=) | |
1 | g.209630674G>A | CA344593593 | LAMB3 | c.884C>T (p.Pro295Leu) c.692C>T (p.Pro231Leu) | gnomAD v4 COSMIC |
1 | g.209630674G>C | CA344593595 | LAMB3 | c.884C>G (p.Pro295Arg) c.692C>G (p.Pro231Arg) | |
1 | g.209630674G>T | CA344593597 | LAMB3 | c.884C>A (p.Pro295His) c.692C>A (p.Pro231His) | gnomAD v4 |
1 | g.209630675G>A | CA1375794 | LAMB3 | c.883C>T (p.Pro295Ser) c.691C>T (p.Pro231Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630675G>C | CA344593602 | LAMB3 | c.883C>G (p.Pro295Ala) c.691C>G (p.Pro231Ala) | dbSNP |
1 | g.209630675G= | CA1148453207 | LAMB3 | c.883C= (p.Pro295=) c.691C= (p.Pro231=) | |
1 | g.209630675G>T | CA344593605 | LAMB3 | c.883C>A (p.Pro295Thr) c.691C>A (p.Pro231Thr) | |
1 | g.209630676T>A | CA423032443 | LAMB3 | c.882A>T (p.Ala294=) c.690A>T (p.Ala230=) | |
1 | g.209630676T>C | CA423032444 | LAMB3 | c.882A>G (p.Ala294=) c.690A>G (p.Ala230=) | |
1 | g.209630676T>G | CA423032445 | LAMB3 | c.882A>C (p.Ala294=) c.690A>C (p.Ala230=) | dbSNP |
1 | g.209630676T= | CA2484301199 | LAMB3 | c.882A= (p.Ala294=) c.690A= (p.Ala230=) | |
1 | g.209630677G>A | CA344593608 | LAMB3 | c.881C>T (p.Ala294Val) c.689C>T (p.Ala230Val) | |
1 | g.209630677G>C | CA344593610 | LAMB3 | c.881C>G (p.Ala294Gly) c.689C>G (p.Ala230Gly) | |
1 | g.209630677G>T | CA344593611 | LAMB3 | c.881C>A (p.Ala294Glu) c.689C>A (p.Ala230Glu) | |
1 | g.209630678C>A | CA344593614 | LAMB3 | c.880G>T (p.Ala294Ser) c.688G>T (p.Ala230Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630678C= | CA2484301200 | LAMB3 | c.880G= (p.Ala294=) c.688G= (p.Ala230=) | |
1 | g.209630678C>G | CA344593617 | LAMB3 | c.880G>C (p.Ala294Pro) c.688G>C (p.Ala230Pro) | |
1 | g.209630678C>T | CA1375795 | LAMB3 | c.880G>A (p.Ala294Thr) c.688G>A (p.Ala230Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630679A= | CA2484301201 | LAMB3 | c.879T= (p.Cys293=) c.687T= (p.Cys229=) | |
1 | g.209630679A>C | CA1375796 | LAMB3 | c.879T>G (p.Cys293Trp) c.687T>G (p.Cys229Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209630679A>G | CA423032446 | LAMB3 | c.879T>C (p.Cys293=) c.687T>C (p.Cys229=) | |
1 | g.209630679A>T | CA344593621 | LAMB3 | c.879T>A (p.Cys293Ter) c.687T>A (p.Cys229Ter) | |
1 | g.209630680C>A | CA344593624 | LAMB3 | c.878G>T (p.Cys293Phe) c.686G>T (p.Cys229Phe) | |
1 | g.209630680C>G | CA344593626 | LAMB3 | c.878G>C (p.Cys293Ser) c.686G>C (p.Cys229Ser) | |
1 | g.209630680C>T | CA344593629 | LAMB3 | c.878G>A (p.Cys293Tyr) c.686G>A (p.Cys229Tyr) | |
1 | g.209630681A= | CA2484301202 | LAMB3 | c.877T= (p.Cys293=) c.685T= (p.Cys229=) | |
1 | g.209630681A>C | CA344593632 | LAMB3 | c.877T>G (p.Cys293Gly) c.685T>G (p.Cys229Gly) | |
1 | g.209630681A>G | CA344593634 | LAMB3 | c.877T>C (p.Cys293Arg) c.685T>C (p.Cys229Arg) | |
1 | g.209630681A>T | CA1375797 | LAMB3 | c.877T>A (p.Cys293Ser) c.685T>A (p.Cys229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630682G>A | CA10609003 | LAMB3 | c.876C>T (p.Arg292=) c.684C>T (p.Arg228=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209630682G>C | CA423032448 | LAMB3 | c.876C>G (p.Arg292=) c.684C>G (p.Arg228=) | |
1 | g.209630682G= | CA2484301203 | LAMB3 | c.876C= (p.Arg292=) c.684C= (p.Arg228=) | |
1 | g.209630682G>T | CA423032447 | LAMB3 | c.876C>A (p.Arg292=) c.684C>A (p.Arg228=) | |
1 | g.209630683C>A | CA1375798 | LAMB3 | c.875G>T (p.Arg292Leu) c.683G>T (p.Arg228Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209630683C= | CA1140353295 | LAMB3 | c.875G= (p.Arg292=) c.683G= (p.Arg228=) | |
1 | g.209630683C>G | CA344593641 | LAMB3 | c.875G>C (p.Arg292Pro) c.683G>C (p.Arg228Pro) | |
1 | g.209630683C>T | CA1375799 | LAMB3 | c.875G>A (p.Arg292His) c.683G>A (p.Arg228His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |