Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209632590G>ACA344594018LAMB3c.815C>T (p.Ala272Val)
c.623C>T (p.Ala208Val)
1g.209632590G>CCA344594020LAMB3c.815C>G (p.Ala272Gly)
c.623C>G (p.Ala208Gly)
1g.209632590G=CA2484301971LAMB3c.815C= (p.Ala272=)
c.623C= (p.Ala208=)
1g.209632590G>TCA1375840LAMB3c.815C>A (p.Ala272Asp)
c.623C>A (p.Ala208Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632591C>ACA1375842LAMB3c.814G>T (p.Ala272Ser)
c.622G>T (p.Ala208Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632591C=CA1143803291LAMB3c.814G= (p.Ala272=)
c.622G= (p.Ala208=)
1g.209632591C>GCA344594027LAMB3c.814G>C (p.Ala272Pro)
c.622G>C (p.Ala208Pro)
1g.209632591C>TCA1375841LAMB3c.814G>A (p.Ala272Thr)
c.622G>A (p.Ala208Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632592G>ACA1375843LAMB3c.813C>T (p.Thr271=)
c.621C>T (p.Thr207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632592G>CCA1375844LAMB3c.813C>G (p.Thr271=)
c.621C>G (p.Thr207=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632592G=CA1142132051LAMB3c.813C= (p.Thr271=)
c.621C= (p.Thr207=)
1g.209632592G>TCA423032585LAMB3c.813C>A (p.Thr271=)
c.621C>A (p.Thr207=)
 dbSNP gnomAD v3 gnomAD v4
1g.209632593G>ACA344594035LAMB3c.812C>T (p.Thr271Ile)
c.620C>T (p.Thr207Ile)
1g.209632593G>CCA344594038LAMB3c.812C>G (p.Thr271Ser)
c.620C>G (p.Thr207Ser)
1g.209632593G=CA1141490397LAMB3c.812C= (p.Thr271=)
c.620C= (p.Thr207=)
1g.209632593G>TCA1375845LAMB3c.812C>A (p.Thr271Asn)
c.620C>A (p.Thr207Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632594T>ACA344594043LAMB3c.811A>T (p.Thr271Ser)
c.619A>T (p.Thr207Ser)
1g.209632594T>CCA344594045LAMB3c.811A>G (p.Thr271Ala)
c.619A>G (p.Thr207Ala)
 ClinVar dbSNP gnomAD v4
1g.209632594T>GCA344594047LAMB3c.811A>C (p.Thr271Pro)
c.619A>C (p.Thr207Pro)
 gnomAD v4
1g.209632594T=CA2484301972LAMB3c.811A= (p.Thr271=)
c.619A= (p.Thr207=)
1g.209632594_209632595delinsTGCA2484301973LAMB3c.810_811delinsCA (p.Ser270=)
c.618_619delinsCA (p.Ser206=)
1g.209632595G>ACA423032587LAMB3c.810C>T (p.Ser270=)
c.618C>T (p.Ser206=)
 COSMIC
1g.209632595G>CCA423032588LAMB3c.810C>G (p.Ser270=)
c.618C>G (p.Ser206=)
 gnomAD v4
1g.209632595G>TCA423032589LAMB3c.810C>A (p.Ser270=)
c.618C>A (p.Ser206=)
1g.209632596delCA1011769436LAMB3c.810del (p.Thr271ProfsTer?)
c.618del (p.Thr207ProfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209632596G>ACA344594050LAMB3c.809C>T (p.Ser270Phe)
c.617C>T (p.Ser206Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.209632596G>CCA344594051LAMB3c.809C>G (p.Ser270Cys)
c.617C>G (p.Ser206Cys)
1g.209632596G=CA2484301974LAMB3c.809C= (p.Ser270=)
c.617C= (p.Ser206=)
1g.209632596G>TCA344594053LAMB3c.809C>A (p.Ser270Tyr)
c.617C>A (p.Ser206Tyr)
1g.209632597A>CCA344594056LAMB3c.808T>G (p.Ser270Ala)
c.616T>G (p.Ser206Ala)
1g.209632597A>GCA344594058LAMB3c.808T>C (p.Ser270Pro)
c.616T>C (p.Ser206Pro)
1g.209632597A>TCA344594060LAMB3c.808T>A (p.Ser270Thr)
c.616T>A (p.Ser206Thr)
1g.209632598G>ACA423032590LAMB3c.807C>T (p.Pro269=)
c.615C>T (p.Pro205=)
1g.209632598G>CCA423032591LAMB3c.807C>G (p.Pro269=)
c.615C>G (p.Pro205=)
1g.209632598G>TCA423032592LAMB3c.807C>A (p.Pro269=)
c.615C>A (p.Pro205=)
1g.209632600_209632601delCA2650321950LAMB3c.806_807del (p.Pro269LeufsTer22)
c.614_615del (p.Pro205LeufsTer22)
 ClinVar gnomAD v4
1g.209632599G>ACA344594063LAMB3c.806C>T (p.Pro269Leu)
c.614C>T (p.Pro205Leu)
 gnomAD v4
1g.209632599G>CCA344594077LAMB3c.806C>G (p.Pro269Arg)
c.614C>G (p.Pro205Arg)
 gnomAD v4
1g.209632599G>TCA344594075LAMB3c.806C>A (p.Pro269His)
c.614C>A (p.Pro205His)
1g.209632600G>ACA344594082LAMB3c.805C>T (p.Pro269Ser)
c.613C>T (p.Pro205Ser)
 gnomAD v4 COSMIC
1g.209632600G>CCA344594084LAMB3c.805C>G (p.Pro269Ala)
c.613C>G (p.Pro205Ala)
 gnomAD v4
1g.209632600G>TCA344594086LAMB3c.805C>A (p.Pro269Thr)
c.613C>A (p.Pro205Thr)
1g.209632601G>ACA423032594LAMB3c.804C>T (p.Gly268=)
c.612C>T (p.Gly204=)
 gnomAD v4
1g.209632601G>CCA423032596LAMB3c.804C>G (p.Gly268=)
c.612C>G (p.Gly204=)
1g.209632601G=CA2484301975LAMB3c.804C= (p.Gly268=)
c.612C= (p.Gly204=)
1g.209632601G>TCA423032593LAMB3c.804C>A (p.Gly268=)
c.612C>A (p.Gly204=)
 ClinVar dbSNP gnomAD v4
1g.209632602C>ACA344594090LAMB3c.803G>T (p.Gly268Val)
c.611G>T (p.Gly204Val)
 gnomAD v4
1g.209632602C>GCA344594092LAMB3c.803G>C (p.Gly268Ala)
c.611G>C (p.Gly204Ala)
1g.209632602C>TCA344594095LAMB3c.803G>A (p.Gly268Asp)
c.611G>A (p.Gly204Asp)
1g.209632603C>ACA344594098LAMB3c.802G>T (p.Gly268Cys)
c.610G>T (p.Gly204Cys)
 gnomAD v4
1g.209632603C>GCA344594099LAMB3c.802G>C (p.Gly268Arg)
c.610G>C (p.Gly204Arg)
1g.209632603C>TCA344594101LAMB3c.802G>A (p.Gly268Ser)
c.610G>A (p.Gly204Ser)
1g.209632604T>ACA423032599LAMB3c.801A>T (p.Ala267=)
c.609A>T (p.Ala203=)
1g.209632604T>CCA423032600LAMB3c.801A>G (p.Ala267=)
c.609A>G (p.Ala203=)
 ClinVar dbSNP
1g.209632604T>GCA423032601LAMB3c.801A>C (p.Ala267=)
c.609A>C (p.Ala203=)
1g.209632604T=CA2484301976LAMB3c.801A= (p.Ala267=)
c.609A= (p.Ala203=)
1g.209632605G>ACA344594104LAMB3c.800C>T (p.Ala267Val)
c.608C>T (p.Ala203Val)
 gnomAD v4
1g.209632605G>CCA344594106LAMB3c.800C>G (p.Ala267Gly)
c.608C>G (p.Ala203Gly)
1g.209632605G>TCA344594109LAMB3c.800C>A (p.Ala267Glu)
c.608C>A (p.Ala203Glu)
1g.209632607_209632612delCA2650321971LAMB3c.795_800del (p.Ser266_Ala267del)
c.603_608del (p.Ser202_Ala203del)
 gnomAD v4
1g.209632606C>ACA344594115LAMB3c.799G>T (p.Ala267Ser)
c.607G>T (p.Ala203Ser)
1g.209632606C>GCA344594111LAMB3c.799G>C (p.Ala267Pro)
c.607G>C (p.Ala203Pro)
1g.209632606C>TCA344594113LAMB3c.799G>A (p.Ala267Thr)
c.607G>A (p.Ala203Thr)
1g.209632607A=CA2484301977LAMB3c.798T= (p.Ser266=)
c.606T= (p.Ser202=)
1g.209632607A>CCA423032604LAMB3c.798T>G (p.Ser266=)
c.606T>G (p.Ser202=)
1g.209632607A>GCA423032605LAMB3c.798T>C (p.Ser266=)
c.606T>C (p.Ser202=)
 dbSNP
1g.209632607A>TCA423032606LAMB3c.798T>A (p.Ser266=)
c.606T>A (p.Ser202=)
1g.209632608G>ACA344594118LAMB3c.797C>T (p.Ser266Phe)
c.605C>T (p.Ser202Phe)
 COSMIC
1g.209632608G>CCA344594120LAMB3c.797C>G (p.Ser266Cys)
c.605C>G (p.Ser202Cys)
1g.209632608G>TCA344594122LAMB3c.797C>A (p.Ser266Tyr)
c.605C>A (p.Ser202Tyr)
1g.209632609A>CCA344594125LAMB3c.796T>G (p.Ser266Ala)
c.604T>G (p.Ser202Ala)
1g.209632609A>GCA344594127LAMB3c.796T>C (p.Ser266Pro)
c.604T>C (p.Ser202Pro)
1g.209632609A>TCA344594129LAMB3c.796T>A (p.Ser266Thr)
c.604T>A (p.Ser202Thr)
1g.209632610G>ACA423032607LAMB3c.795C>T (p.Ala265=)
c.603C>T (p.Ala201=)
 ClinVar dbSNP
1g.209632610G>CCA423032608LAMB3c.795C>G (p.Ala265=)
c.603C>G (p.Ala201=)
1g.209632610G>TCA423032609LAMB3c.795C>A (p.Ala265=)
c.603C>A (p.Ala201=)
1g.209632611G>ACA344594133LAMB3c.794C>T (p.Ala265Val)
c.602C>T (p.Ala201Val)
 gnomAD v4
1g.209632611G>CCA344594135LAMB3c.794C>G (p.Ala265Gly)
c.602C>G (p.Ala201Gly)
1g.209632611G>TCA344594137LAMB3c.794C>A (p.Ala265Asp)
c.602C>A (p.Ala201Asp)
1g.209632612C>ACA344594142LAMB3c.793G>T (p.Ala265Ser)
c.601G>T (p.Ala201Ser)
 gnomAD v4
1g.209632612C=CA2484301978LAMB3c.793G= (p.Ala265=)
c.601G= (p.Ala201=)
1g.209632612C>GCA344594144LAMB3c.793G>C (p.Ala265Pro)
c.601G>C (p.Ala201Pro)
 dbSNP gnomAD v4
1g.209632612C>TCA344594145LAMB3c.793G>A (p.Ala265Thr)
c.601G>A (p.Ala201Thr)
1g.209632613C>ACA36759664LAMB3c.792G>T (p.Gly264=)
c.600G>T (p.Gly200=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632613C=CA2484301979LAMB3c.792G= (p.Gly264=)
c.600G= (p.Gly200=)
1g.209632613C>GCA423032610LAMB3c.792G>C (p.Gly264=)
c.600G>C (p.Gly200=)
1g.209632613C>TCA423032611LAMB3c.792G>A (p.Gly264=)
c.600G>A (p.Gly200=)
 ClinVar dbSNP gnomAD v4
1g.209632614C>ACA344594149LAMB3c.791G>T (p.Gly264Val)
c.599G>T (p.Gly200Val)
1g.209632614C>GCA344594153LAMB3c.791G>C (p.Gly264Ala)
c.599G>C (p.Gly200Ala)
1g.209632614C>TCA344594148LAMB3c.791G>A (p.Gly264Glu)
c.599G>A (p.Gly200Glu)
 gnomAD v4
1g.209632615C>ACA344594160LAMB3c.790G>T (p.Gly264Trp)
c.598G>T (p.Gly200Trp)
 gnomAD v4
1g.209632615C>GCA344594155LAMB3c.790G>C (p.Gly264Arg)
c.598G>C (p.Gly200Arg)
1g.209632615C>TCA344594157LAMB3c.790G>A (p.Gly264Arg)
c.598G>A (p.Gly200Arg)
1g.209632616A>CCA423032612LAMB3c.789T>G (p.Pro263=)
c.597T>G (p.Pro199=)
1g.209632616A>GCA423032613LAMB3c.789T>C (p.Pro263=)
c.597T>C (p.Pro199=)
1g.209632616A>TCA423032614LAMB3c.789T>A (p.Pro263=)
c.597T>A (p.Pro199=)
1g.209632617G>ACA344594162LAMB3c.788C>T (p.Pro263Leu)
c.596C>T (p.Pro199Leu)
1g.209632617G>CCA344594164LAMB3c.788C>G (p.Pro263Arg)
c.596C>G (p.Pro199Arg)
 gnomAD v4
1g.209632617G>TCA344594168LAMB3c.788C>A (p.Pro263His)
c.596C>A (p.Pro199His)
1g.209632618G>ACA344594170LAMB3c.787C>T (p.Pro263Ser)
c.595C>T (p.Pro199Ser)
1g.209632618G>CCA344594172LAMB3c.787C>G (p.Pro263Ala)
c.595C>G (p.Pro199Ala)
1g.209632618G>TCA344594175LAMB3c.787C>A (p.Pro263Thr)
c.595C>A (p.Pro199Thr)
1g.209632619delCA2586967987LAMB3c.786del (p.Lys262AsnfsTer?)
c.594del (p.Lys198AsnfsTer?)
1g.209632619C>ACA344594178LAMB3c.786G>T (p.Lys262Asn)
c.594G>T (p.Lys198Asn)
1g.209632619C>GCA344594180LAMB3c.786G>C (p.Lys262Asn)
c.594G>C (p.Lys198Asn)
1g.209632619C>TCA423032615LAMB3c.786G>A (p.Lys262=)
c.594G>A (p.Lys198=)
1g.209632620T>ACA344594183LAMB3c.785A>T (p.Lys262Met)
c.593A>T (p.Lys198Met)
1g.209632620T>CCA344594185LAMB3c.785A>G (p.Lys262Arg)
c.593A>G (p.Lys198Arg)
1g.209632620T>GCA344594187LAMB3c.785A>C (p.Lys262Thr)
c.593A>C (p.Lys198Thr)
1g.209632621delCA2650321986LAMB3c.785del (p.Lys262SerfsTer?)
c.593del (p.Lys198SerfsTer?)
 gnomAD v4
1g.209632621T>ACA344594194LAMB3c.784A>T (p.Lys262Ter)
c.592A>T (p.Lys198Ter)
 ClinVar dbSNP
1g.209632621T>CCA344594190LAMB3c.784A>G (p.Lys262Glu)
c.592A>G (p.Lys198Glu)
1g.209632621T>GCA344594192LAMB3c.784A>C (p.Lys262Gln)
c.592A>C (p.Lys198Gln)
1g.209632621T=CA2484301980LAMB3c.784A= (p.Lys262=)
c.592A= (p.Lys198=)
1g.209632621_209632638dupCA2650321988LAMB3c.767_784dup (p.Pro261_Lys262insThrAspArgCysAlaPro)
c.575_592dup (p.Pro197_Lys198insThrAspArgCysAlaPro)
 gnomAD v4
1g.209632622G>ACA423032616LAMB3c.783C>T (p.Pro261=)
c.591C>T (p.Pro197=)
1g.209632622G>CCA423032617LAMB3c.783C>G (p.Pro261=)
c.591C>G (p.Pro197=)
 gnomAD v4
1g.209632622G>TCA423032618LAMB3c.783C>A (p.Pro261=)
c.591C>A (p.Pro197=)
 ClinVar
1g.209632623G>ACA344594197LAMB3c.782C>T (p.Pro261Leu)
c.590C>T (p.Pro197Leu)
1g.209632623G>CCA344594199LAMB3c.782C>G (p.Pro261Arg)
c.590C>G (p.Pro197Arg)
1g.209632623G>TCA344594200LAMB3c.782C>A (p.Pro261His)
c.590C>A (p.Pro197His)
 gnomAD v4
1g.209632624G>ACA1375847LAMB3c.781C>T (p.Pro261Ser)
c.589C>T (p.Pro197Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632624G>CCA1375846LAMB3c.781C>G (p.Pro261Ala)
c.589C>G (p.Pro197Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632624G=CA1145052839LAMB3c.781C= (p.Pro261=)
c.589C= (p.Pro197=)
1g.209632624G>TCA344594208LAMB3c.781C>A (p.Pro261Thr)
c.589C>A (p.Pro197Thr)
 dbSNP COSMIC
1g.209632625T>ACA423032619LAMB3c.780A>T (p.Ala260=)
c.588A>T (p.Ala196=)
 dbSNP gnomAD v4
1g.209632625T>CCA423032620LAMB3c.780A>G (p.Ala260=)
c.588A>G (p.Ala196=)
1g.209632625T>GCA423032621LAMB3c.780A>C (p.Ala260=)
c.588A>C (p.Ala196=)
 dbSNP
1g.209632625T=CA2484301981LAMB3c.780A= (p.Ala260=)
c.588A= (p.Ala196=)
1g.209632626G>ACA344594211LAMB3c.779C>T (p.Ala260Val)
c.587C>T (p.Ala196Val)
1g.209632626G>CCA344594213LAMB3c.779C>G (p.Ala260Gly)
c.587C>G (p.Ala196Gly)
 gnomAD v4
1g.209632626G>TCA344594219LAMB3c.779C>A (p.Ala260Glu)
c.587C>A (p.Ala196Glu)
1g.209632627C>ACA344594222LAMB3c.778G>T (p.Ala260Ser)
c.586G>T (p.Ala196Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.209632627C=CA1141311817LAMB3c.778G= (p.Ala260=)
c.586G= (p.Ala196=)
1g.209632627C>GCA344594224LAMB3c.778G>C (p.Ala260Pro)
c.586G>C (p.Ala196Pro)
1g.209632627C>TCA1375848LAMB3c.778G>A (p.Ala260Thr)
c.586G>A (p.Ala196Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632628G>ACA1375849LAMB3c.777C>T (p.Cys259=)
c.585C>T (p.Cys195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632628G>CCA344594232LAMB3c.777C>G (p.Cys259Trp)
c.585C>G (p.Cys195Trp)
1g.209632628G=CA1142122122LAMB3c.777C= (p.Cys259=)
c.585C= (p.Cys195=)
1g.209632628G>TCA344594230LAMB3c.777C>A (p.Cys259Ter)
c.585C>A (p.Cys195Ter)
1g.209632629C>ACA344594247LAMB3c.776G>T (p.Cys259Phe)
c.584G>T (p.Cys195Phe)
1g.209632629C>GCA344594253LAMB3c.776G>C (p.Cys259Ser)
c.584G>C (p.Cys195Ser)
1g.209632629C>TCA344594256LAMB3c.776G>A (p.Cys259Tyr)
c.584G>A (p.Cys195Tyr)
1g.209632633_209632639delCA2650322014LAMB3c.770_776del (p.Asp257AlafsTer?)
c.578_584del (p.Asp193AlafsTer?)
 gnomAD v4
1g.209632630A>CCA344594258LAMB3c.775T>G (p.Cys259Gly)
c.583T>G (p.Cys195Gly)
1g.209632630A>GCA344594260LAMB3c.775T>C (p.Cys259Arg)
c.583T>C (p.Cys195Arg)
1g.209632630A>TCA344594262LAMB3c.775T>A (p.Cys259Ser)
c.583T>A (p.Cys195Ser)
1g.209632631G>ACA423032622LAMB3c.774C>T (p.Arg258=)
c.582C>T (p.Arg194=)
1g.209632631G>CCA423032623LAMB3c.774C>G (p.Arg258=)
c.582C>G (p.Arg194=)
 gnomAD v4
1g.209632631G>TCA423032624LAMB3c.774C>A (p.Arg258=)
c.582C>A (p.Arg194=)
1g.209632632C>ACA344594269LAMB3c.773G>T (p.Arg258Leu)
c.581G>T (p.Arg194Leu)
1g.209632632C=CA1147411813LAMB3c.773G= (p.Arg258=)
c.581G= (p.Arg194=)
1g.209632632C>GCA344594267LAMB3c.773G>C (p.Arg258Pro)
c.581G>C (p.Arg194Pro)
1g.209632632C>TCA1375850LAMB3c.773G>A (p.Arg258His)
c.581G>A (p.Arg194His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632633G>ACA1375851LAMB3c.772C>T (p.Arg258Cys)
c.580C>T (p.Arg194Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632633G>CCA344594274LAMB3c.772C>G (p.Arg258Gly)
c.580C>G (p.Arg194Gly)
1g.209632633G=CA1142062515LAMB3c.772C= (p.Arg258=)
c.580C= (p.Arg194=)
1g.209632633G>TCA344594276LAMB3c.772C>A (p.Arg258Ser)
c.580C>A (p.Arg194Ser)
 COSMIC
1g.209632634A=CA2484301982LAMB3c.771T= (p.Asp257=)
c.579T= (p.Asp193=)
1g.209632634A>CCA344594278LAMB3c.771T>G (p.Asp257Glu)
c.579T>G (p.Asp193Glu)
1g.209632634A>GCA1375852LAMB3c.771T>C (p.Asp257=)
c.579T>C (p.Asp193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632634A>TCA344594281LAMB3c.771T>A (p.Asp257Glu)
c.579T>A (p.Asp193Glu)
1g.209632635T>ACA344594284LAMB3c.770A>T (p.Asp257Val)
c.578A>T (p.Asp193Val)
1g.209632635T>CCA344594289LAMB3c.770A>G (p.Asp257Gly)
c.578A>G (p.Asp193Gly)
 dbSNP gnomAD v4
1g.209632635T>GCA344594287LAMB3c.770A>C (p.Asp257Ala)
c.578A>C (p.Asp193Ala)
1g.209632635T=CA2484301983LAMB3c.770A= (p.Asp257=)
c.578A= (p.Asp193=)
1g.209632636C>ACA344594293LAMB3c.769G>T (p.Asp257Tyr)
c.577G>T (p.Asp193Tyr)
1g.209632636C>GCA344594295LAMB3c.769G>C (p.Asp257His)
c.577G>C (p.Asp193His)
1g.209632636C>TCA344594298LAMB3c.769G>A (p.Asp257Asn)
c.577G>A (p.Asp193Asn)
 gnomAD v4
1g.209632637A>CCA423032625LAMB3c.768T>G (p.Ala256=)
c.576T>G (p.Ala192=)
1g.209632637A>GCA423032626LAMB3c.768T>C (p.Ala256=)
c.576T>C (p.Ala192=)
1g.209632637A>TCA423032627LAMB3c.768T>A (p.Ala256=)
c.576T>A (p.Ala192=)
1g.209632638G>ACA344594301LAMB3c.767C>T (p.Ala256Val)
c.575C>T (p.Ala192Val)
1g.209632638G>CCA344594303LAMB3c.767C>G (p.Ala256Gly)
c.575C>G (p.Ala192Gly)
 dbSNP
1g.209632638G=CA2484301984LAMB3c.767C= (p.Ala256=)
c.575C= (p.Ala192=)
1g.209632638G>TCA344594305LAMB3c.767C>A (p.Ala256Asp)
c.575C>A (p.Ala192Asp)
1g.209632639C>ACA344594309LAMB3c.766G>T (p.Ala256Ser)
c.574G>T (p.Ala192Ser)
1g.209632639C>GCA344594311LAMB3c.766G>C (p.Ala256Pro)
c.574G>C (p.Ala192Pro)
1g.209632639C>TCA344594313LAMB3c.766G>A (p.Ala256Thr)
c.574G>A (p.Ala192Thr)
1g.209632640A=CA1149057334LAMB3c.765T= (p.His255=)
c.573T= (p.His191=)
1g.209632640A>CCA344594315LAMB3c.765T>G (p.His255Gln)
c.573T>G (p.His191Gln)
1g.209632640A>GCA1375853LAMB3c.765T>C (p.His255=)
c.573T>C (p.His191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632640A>TCA344594320LAMB3c.765T>A (p.His255Gln)
c.573T>A (p.His191Gln)
1g.209632641T>ACA344594324LAMB3c.764A>T (p.His255Leu)
c.572A>T (p.His191Leu)
1g.209632641T>CCA344594325LAMB3c.764A>G (p.His255Arg)
c.572A>G (p.His191Arg)
1g.209632641T>GCA1375854LAMB3c.764A>C (p.His255Pro)
c.572A>C (p.His191Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632641T=CA2484301985LAMB3c.764A= (p.His255=)
c.572A= (p.His191=)
1g.209632642G>ACA344594328LAMB3c.763C>T (p.His255Tyr)
c.571C>T (p.His191Tyr)
1g.209632642G>CCA344594334LAMB3c.763C>G (p.His255Asp)
c.571C>G (p.His191Asp)
1g.209632642G>TCA344594331LAMB3c.763C>A (p.His255Asn)
c.571C>A (p.His191Asn)
1g.209632643G>ACA423032628LAMB3c.762C>T (p.Gly254=)
c.570C>T (p.Gly190=)
 ClinVar dbSNP
1g.209632643G>CCA423032629LAMB3c.762C>G (p.Gly254=)
c.570C>G (p.Gly190=)
1g.209632643G>TCA423032630LAMB3c.762C>A (p.Gly254=)
c.570C>A (p.Gly190=)
1g.209632644C>ACA344594338LAMB3c.761G>T (p.Gly254Val)
c.569G>T (p.Gly190Val)
1g.209632644C>GCA344594343LAMB3c.761G>C (p.Gly254Ala)
c.569G>C (p.Gly190Ala)
1g.209632644C>TCA344594340LAMB3c.761G>A (p.Gly254Asp)
c.569G>A (p.Gly190Asp)
1g.209632645C>ACA344594348LAMB3c.760G>T (p.Gly254Cys)
c.568G>T (p.Gly190Cys)
1g.209632645C=CA2484301986LAMB3c.760G= (p.Gly254=)
c.568G= (p.Gly190=)
1g.209632645C>GCA344594349LAMB3c.760G>C (p.Gly254Arg)
c.568G>C (p.Gly190Arg)
1g.209632645C>TCA344594352LAMB3c.760G>A (p.Gly254Ser)
c.568G>A (p.Gly190Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632646G>ACA1375855LAMB3c.759C>T (p.His253=)
c.567C>T (p.His189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632646G>CCA344594357LAMB3c.759C>G (p.His253Gln)
c.567C>G (p.His189Gln)
1g.209632646G=CA2484301987LAMB3c.759C= (p.His253=)
c.567C= (p.His189=)
1g.209632646G>TCA344594359LAMB3c.759C>A (p.His253Gln)
c.567C>A (p.His189Gln)
1g.209632647_209632648delCA2580061966LAMB3c.758_759del (p.His253ArgfsTer4)
c.566_567del (p.His189ArgfsTer4)
 ClinVar
1g.209632647T>ACA344594367LAMB3c.758A>T (p.His253Leu)
c.566A>T (p.His189Leu)
 gnomAD v4
1g.209632647T>CCA344594362LAMB3c.758A>G (p.His253Arg)
c.566A>G (p.His189Arg)
 ClinVar gnomAD v4
1g.209632647T>GCA344594364LAMB3c.758A>C (p.His253Pro)
c.566A>C (p.His189Pro)
1g.209632648G>ACA344594371LAMB3c.757C>T (p.His253Tyr)
c.565C>T (p.His189Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632648G>CCA344594373LAMB3c.757C>G (p.His253Asp)
c.565C>G (p.His189Asp)
1g.209632648G=CA2484301988LAMB3c.757C= (p.His253=)
c.565C= (p.His189=)
1g.209632648G>TCA344594375LAMB3c.757C>A (p.His253Asn)
c.565C>A (p.His189Asn)
1g.209632649A=CA2484301989LAMB3c.756T= (p.Cys252=)
c.564T= (p.Cys188=)
1g.209632649A>CCA344594379LAMB3c.756T>G (p.Cys252Trp)
c.564T>G (p.Cys188Trp)
1g.209632649A>GCA423032631LAMB3c.756T>C (p.Cys252=)
c.564T>C (p.Cys188=)
 dbSNP gnomAD v4
1g.209632649A>TCA344594381LAMB3c.756T>A (p.Cys252Ter)
c.564T>A (p.Cys188Ter)
1g.209632650C>ACA1375856LAMB3c.755G>T (p.Cys252Phe)
c.563G>T (p.Cys188Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632650C=CA1148474061LAMB3c.755G= (p.Cys252=)
c.563G= (p.Cys188=)
1g.209632650C>GCA344594384LAMB3c.755G>C (p.Cys252Ser)
c.563G>C (p.Cys188Ser)
1g.209632650C>TCA344594386LAMB3c.755G>A (p.Cys252Tyr)
c.563G>A (p.Cys188Tyr)
1g.209632651A>CCA344594392LAMB3c.754T>G (p.Cys252Gly)
c.562T>G (p.Cys188Gly)
1g.209632651A>GCA344594393LAMB3c.754T>C (p.Cys252Arg)
c.562T>C (p.Cys188Arg)
1g.209632651A>TCA344594394LAMB3c.754T>A (p.Cys252Ser)
c.562T>A (p.Cys188Ser)
1g.209632652G>ACA423032632LAMB3c.753C>T (p.Phe251=)
c.561C>T (p.Phe187=)
 ClinVar gnomAD v4
1g.209632652G>CCA344594398LAMB3c.753C>G (p.Phe251Leu)
c.561C>G (p.Phe187Leu)
1g.209632652G>TCA344594401LAMB3c.753C>A (p.Phe251Leu)
c.561C>A (p.Phe187Leu)
1g.209632653A>CCA344594404LAMB3c.752T>G (p.Phe251Cys)
c.560T>G (p.Phe187Cys)
1g.209632653A>GCA344594415LAMB3c.752T>C (p.Phe251Ser)
c.560T>C (p.Phe187Ser)
1g.209632653A>TCA344594416LAMB3c.752T>A (p.Phe251Tyr)
c.560T>A (p.Phe187Tyr)
1g.209632654A=CA2484301990LAMB3c.751T= (p.Phe251=)
c.559T= (p.Phe187=)
1g.209632654A>CCA344594417LAMB3c.751T>G (p.Phe251Val)
c.559T>G (p.Phe187Val)
1g.209632654A>GCA36759690LAMB3c.751T>C (p.Phe251Leu)
c.559T>C (p.Phe187Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209632654A>TCA344594421LAMB3c.751T>A (p.Phe251Ile)
c.559T>A (p.Phe187Ile)
1g.209632655G>ACA423032633LAMB3c.750C>T (p.Cys250=)
c.558C>T (p.Cys186=)
1g.209632655G>CCA344594424LAMB3c.750C>G (p.Cys250Trp)
c.558C>G (p.Cys186Trp)
1g.209632655G>TCA344594426LAMB3c.750C>A (p.Cys250Ter)
c.558C>A (p.Cys186Ter)
1g.209632656C>ACA344594432LAMB3c.749G>T (p.Cys250Phe)
c.557G>T (p.Cys186Phe)
1g.209632656C>GCA344594428LAMB3c.749G>C (p.Cys250Ser)
c.557G>C (p.Cys186Ser)
1g.209632656C>TCA344594430LAMB3c.749G>A (p.Cys250Tyr)
c.557G>A (p.Cys186Tyr)
1g.209632657_209632661delCA2650322072LAMB3c.745_749del (p.Ser249LeufsTer7)
c.553_557del (p.Ser185LeufsTer7)
 gnomAD v4
1g.209632657A>CCA344594434LAMB3c.748T>G (p.Cys250Gly)
c.556T>G (p.Cys186Gly)
1g.209632657A>GCA344594436LAMB3c.748T>C (p.Cys250Arg)
c.556T>C (p.Cys186Arg)
1g.209632657A>TCA344594438LAMB3c.748T>A (p.Cys250Ser)
c.556T>A (p.Cys186Ser)
1g.209632658G>ACA1375857LAMB3c.747C>T (p.Ser249=)
c.555C>T (p.Ser185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632658G>CCA344594443LAMB3c.747C>G (p.Ser249Arg)
c.555C>G (p.Ser185Arg)
1g.209632658G=CA2484301991LAMB3c.747C= (p.Ser249=)
c.555C= (p.Ser185=)
1g.209632658G>TCA344594445LAMB3c.747C>A (p.Ser249Arg)
c.555C>A (p.Ser185Arg)
1g.209632658_209632659delCA2650322080LAMB3c.746_747del (p.Ser249MetfsTer8)
c.554_555del (p.Ser185MetfsTer8)
 gnomAD v4
1g.209632659C>ACA344594453LAMB3c.746G>T (p.Ser249Ile)
c.554G>T (p.Ser185Ile)
1g.209632659C=CA2484301992LAMB3c.746G= (p.Ser249=)
c.554G= (p.Ser185=)
1g.209632659C>GCA344594448LAMB3c.746G>C (p.Ser249Thr)
c.554G>C (p.Ser185Thr)
1g.209632659C>TCA344594450LAMB3c.746G>A (p.Ser249Asn)
c.554G>A (p.Ser185Asn)
 dbSNP gnomAD v4
1g.209632660T>ACA344594456LAMB3c.745A>T (p.Ser249Cys)
c.553A>T (p.Ser185Cys)
1g.209632660T>CCA344594458LAMB3c.745A>G (p.Ser249Gly)
c.553A>G (p.Ser185Gly)
1g.209632660T>GCA344594460LAMB3c.745A>C (p.Ser249Arg)
c.553A>C (p.Ser185Arg)
1g.209632661C>ACA423032634LAMB3c.744G>T (p.Gly248=)
c.552G>T (p.Gly184=)
1g.209632661C=CA2484301993LAMB3c.744G= (p.Gly248=)
c.552G= (p.Gly184=)
1g.209632661C>GCA1375859LAMB3c.744G>C (p.Gly248=)
c.552G>C (p.Gly184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632661C>TCA1375858LAMB3c.744G>A (p.Gly248=)
c.552G>A (p.Gly184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632662C>ACA344594467LAMB3c.743G>T (p.Gly248Val)
c.551G>T (p.Gly184Val)
1g.209632662C>GCA344594471LAMB3c.743G>C (p.Gly248Ala)
c.551G>C (p.Gly184Ala)
1g.209632662C>TCA344594469LAMB3c.743G>A (p.Gly248Glu)
c.551G>A (p.Gly184Glu)
1g.209632663C>ACA344594475LAMB3c.742G>T (p.Gly248Trp)
c.550G>T (p.Gly184Trp)
1g.209632663C>GCA344594476LAMB3c.742G>C (p.Gly248Arg)
c.550G>C (p.Gly184Arg)
 gnomAD v4
1g.209632663C>TCA344594479LAMB3c.742G>A (p.Gly248Arg)
c.550G>A (p.Gly184Arg)
1g.209632664C>ACA344594482LAMB3c.741G>T (p.Gln247His)
c.549G>T (p.Gln183His)
 dbSNP
1g.209632664C=CA2484301994LAMB3c.741G= (p.Gln247=)
c.549G= (p.Gln183=)
1g.209632664C>GCA344594484LAMB3c.741G>C (p.Gln247His)
c.549G>C (p.Gln183His)
 gnomAD v4
1g.209632664C>TCA423032635LAMB3c.741G>A (p.Gln247=)
c.549G>A (p.Gln183=)
 ClinVar
1g.209632665T>ACA344594486LAMB3c.740A>T (p.Gln247Leu)
c.548A>T (p.Gln183Leu)
 gnomAD v4
1g.209632665T>CCA344594488LAMB3c.740A>G (p.Gln247Arg)
c.548A>G (p.Gln183Arg)
1g.209632665T>GCA344594490LAMB3c.740A>C (p.Gln247Pro)
c.548A>C (p.Gln183Pro)
1g.209632666G>ACA344594492LAMB3c.739C>T (p.Gln247Ter)
c.547C>T (p.Gln183Ter)
 gnomAD v4
1g.209632666G>CCA344594494LAMB3c.739C>G (p.Gln247Glu)
c.547C>G (p.Gln183Glu)
1g.209632666G>TCA344594497LAMB3c.739C>A (p.Gln247Lys)
c.547C>A (p.Gln183Lys)
1g.209632667C>ACA423032636LAMB3c.738G>T (p.Leu246=)
c.546G>T (p.Leu182=)
1g.209632667C>GCA423032637LAMB3c.738G>C (p.Leu246=)
c.546G>C (p.Leu182=)
1g.209632667C>TCA423032638LAMB3c.738G>A (p.Leu246=)
c.546G>A (p.Leu182=)
 gnomAD v4
1g.209632668A>CCA344594500LAMB3c.737T>G (p.Leu246Arg)
c.545T>G (p.Leu182Arg)
1g.209632668A>GCA344594504LAMB3c.737T>C (p.Leu246Pro)
c.545T>C (p.Leu182Pro)
1g.209632668A>TCA344594502LAMB3c.737T>A (p.Leu246Gln)
c.545T>A (p.Leu182Gln)
1g.209632669G>ACA423032639LAMB3c.736C>T (p.Leu246=)
c.544C>T (p.Leu182=)
1g.209632669G>CCA344594507LAMB3c.736C>G (p.Leu246Val)
c.544C>G (p.Leu182Val)
 gnomAD v4
1g.209632669G>TCA344594509LAMB3c.736C>A (p.Leu246Met)
c.544C>A (p.Leu182Met)
1g.209632670A>CCA423032640LAMB3c.735T>G (p.Arg245=)
c.543T>G (p.Arg181=)
1g.209632670A>GCA423032641LAMB3c.735T>C (p.Arg245=)
c.543T>C (p.Arg181=)
1g.209632670A>TCA423032642LAMB3c.735T>A (p.Arg245=)
c.543T>A (p.Arg181=)
1g.209632671C>ACA344594512LAMB3c.734G>T (p.Arg245Leu)
c.542G>T (p.Arg181Leu)
1g.209632671C=CA1141431189LAMB3c.734G= (p.Arg245=)
c.542G= (p.Arg181=)
1g.209632671C>GCA344594514LAMB3c.734G>C (p.Arg245Pro)
c.542G>C (p.Arg181Pro)
1g.209632671C>TCA1375860LAMB3c.734G>A (p.Arg245His)
c.542G>A (p.Arg181His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209632672G>ACA1375861LAMB3c.733C>T (p.Arg245Cys)
c.541C>T (p.Arg181Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632672G>CCA344594520LAMB3c.733C>G (p.Arg245Gly)
c.541C>G (p.Arg181Gly)
 dbSNP gnomAD v4
1g.209632672G=CA2484301995LAMB3c.733C= (p.Arg245=)
c.541C= (p.Arg181=)
1g.209632672G>TCA344594523LAMB3c.733C>A (p.Arg245Ser)
c.541C>A (p.Arg181Ser)
1g.209632673G>ACA423032643LAMB3c.732C>T (p.Leu244=)
c.540C>T (p.Leu180=)
1g.209632673G>CCA423032645LAMB3c.732C>G (p.Leu244=)
c.540C>G (p.Leu180=)
1g.209632673G>TCA423032644LAMB3c.732C>A (p.Leu244=)
c.540C>A (p.Leu180=)
1g.209632674A>CCA344594527LAMB3c.731T>G (p.Leu244Arg)
c.539T>G (p.Leu180Arg)
1g.209632674A>GCA344594529LAMB3c.731T>C (p.Leu244Pro)
c.539T>C (p.Leu180Pro)
1g.209632674A>TCA344594531LAMB3c.731T>A (p.Leu244His)
c.539T>A (p.Leu180His)
1g.209632675G>ACA1375862LAMB3c.730C>T (p.Leu244Phe)
c.538C>T (p.Leu180Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632675G>CCA344594536LAMB3c.730C>G (p.Leu244Val)
c.538C>G (p.Leu180Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209632675G=CA2484301996LAMB3c.730C= (p.Leu244=)
c.538C= (p.Leu180=)
1g.209632675G>TCA344594539LAMB3c.730C>A (p.Leu244Ile)
c.538C>A (p.Leu180Ile)
1g.209632676C>ACA344594544LAMB3c.729G>T (p.Gln243His)
c.537G>T (p.Gln179His)
1g.209632676C>GCA344594541LAMB3c.729G>C (p.Gln243His)
c.537G>C (p.Gln179His)
1g.209632676C>TCA423032646LAMB3c.729G>A (p.Gln243=)
c.537G>A (p.Gln179=)
1g.209632677T>ACA344594546LAMB3c.728A>T (p.Gln243Leu)
c.536A>T (p.Gln179Leu)
1g.209632677T>CCA344594548LAMB3c.728A>G (p.Gln243Arg)
c.536A>G (p.Gln179Arg)
 dbSNP
1g.209632677T>GCA344594552LAMB3c.728A>C (p.Gln243Pro)
c.536A>C (p.Gln179Pro)
1g.209632677T=CA2484301997LAMB3c.728A= (p.Gln243=)
c.536A= (p.Gln179=)
1g.209632678G>ACA341658LAMB3c.727C>T (p.Gln243Ter)
c.535C>T (p.Gln179Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209632678G>CCA344594554LAMB3c.727C>G (p.Gln243Glu)
c.535C>G (p.Gln179Glu)
 gnomAD v4
1g.209632678G=CA1141188135LAMB3c.727C= (p.Gln243=)
c.535C= (p.Gln179=)
1g.209632678G>TCA344594557LAMB3c.727C>A (p.Gln243Lys)
c.535C>A (p.Gln179Lys)
1g.209632680delCA2650322127LAMB3c.727del (p.Gln243SerfsTer?)
c.535del (p.Gln179SerfsTer?)
 gnomAD v4
1g.209632679G>ACA423032647LAMB3c.726C>T (p.Ser242=)
c.534C>T (p.Ser178=)
1g.209632679G>CCA423032648LAMB3c.726C>G (p.Ser242=)
c.534C>G (p.Ser178=)
 dbSNP gnomAD v4
1g.209632679G>TCA423032649LAMB3c.726C>A (p.Ser242=)
c.534C>A (p.Ser178=)
1g.209632680G>ACA344594560LAMB3c.725C>T (p.Ser242Phe)
c.533C>T (p.Ser178Phe)
 gnomAD v4
1g.209632680G>CCA344594562LAMB3c.725C>G (p.Ser242Cys)
c.533C>G (p.Ser178Cys)
1g.209632680G>TCA344594564LAMB3c.725C>A (p.Ser242Tyr)
c.533C>A (p.Ser178Tyr)
1g.209632681A>CCA344594567LAMB3c.724T>G (p.Ser242Ala)
c.532T>G (p.Ser178Ala)
1g.209632681A>GCA344594569LAMB3c.724T>C (p.Ser242Pro)
c.532T>C (p.Ser178Pro)
1g.209632681A>TCA344594571LAMB3c.724T>A (p.Ser242Thr)
c.532T>A (p.Ser178Thr)
1g.209632682C>ACA423032652LAMB3c.723G>T (p.Val241=)
c.531G>T (p.Val177=)
1g.209632682C>GCA423032651LAMB3c.723G>C (p.Val241=)
c.531G>C (p.Val177=)
 gnomAD v4
1g.209632682C>TCA423032650LAMB3c.723G>A (p.Val241=)
c.531G>A (p.Val177=)
1g.209632682_209632690delinsCACAGCATACA2484301998LAMB3c.715_723delinsTATGCTGTG (p.Tyr239=)
c.523_531delinsTATGCTGTG (p.Tyr175=)
1g.209632683A>CCA344594584LAMB3c.722T>G (p.Val241Gly)
c.530T>G (p.Val177Gly)
1g.209632683A>GCA344594575LAMB3c.722T>C (p.Val241Ala)
c.530T>C (p.Val177Ala)
 gnomAD v4
1g.209632683A>TCA344594587LAMB3c.722T>A (p.Val241Glu)
c.530T>A (p.Val177Glu)
1g.209632683_209632690delCA1375863LAMB3c.715_722del (p.Tyr239ValfsTer16)
c.523_530del (p.Tyr175ValfsTer16)
 dbSNP ExAC gnomAD v2
1g.209632684C>ACA344594589LAMB3c.721G>T (p.Val241Leu)
c.529G>T (p.Val177Leu)
1g.209632684C=CA2484301999LAMB3c.721G= (p.Val241=)
c.529G= (p.Val177=)
1g.209632684C>GCA344594591LAMB3c.721G>C (p.Val241Leu)
c.529G>C (p.Val177Leu)
1g.209632684C>TCA1375864LAMB3c.721G>A (p.Val241Met)
c.529G>A (p.Val177Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209632685A>CCA423032653LAMB3c.720T>G (p.Ala240=)
c.528T>G (p.Ala176=)
1g.209632685A>GCA423032654LAMB3c.720T>C (p.Ala240=)
c.528T>C (p.Ala176=)
 gnomAD v4
1g.209632685A>TCA423032655LAMB3c.720T>A (p.Ala240=)
c.528T>A (p.Ala176=)
1g.209632686G>ACA344594597LAMB3c.719C>T (p.Ala240Val)
c.527C>T (p.Ala176Val)
1g.209632686G>CCA344594602LAMB3c.719C>G (p.Ala240Gly)
c.527C>G (p.Ala176Gly)
1g.209632686G>TCA344594605LAMB3c.719C>A (p.Ala240Asp)
c.527C>A (p.Ala176Asp)
1g.209632687C>ACA344594610LAMB3c.718G>T (p.Ala240Ser)
c.526G>T (p.Ala176Ser)
1g.209632687C>GCA344594611LAMB3c.718G>C (p.Ala240Pro)
c.526G>C (p.Ala176Pro)
1g.209632687C>TCA344594613LAMB3c.718G>A (p.Ala240Thr)
c.526G>A (p.Ala176Thr)
1g.209632688A>CCA344594616LAMB3c.717T>G (p.Tyr239Ter)
c.525T>G (p.Tyr175Ter)
1g.209632688A>GCA423032656LAMB3c.717T>C (p.Tyr239=)
c.525T>C (p.Tyr175=)
1g.209632688A>TCA344594617LAMB3c.717T>A (p.Tyr239Ter)
c.525T>A (p.Tyr175Ter)
1g.209632689T>ACA344594625LAMB3c.716A>T (p.Tyr239Phe)
c.524A>T (p.Tyr175Phe)
1g.209632689T>CCA344594621LAMB3c.716A>G (p.Tyr239Cys)
c.524A>G (p.Tyr175Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.209632689T>GCA344594623LAMB3c.716A>C (p.Tyr239Ser)
c.524A>C (p.Tyr175Ser)
1g.209632689T=CA2484302000LAMB3c.716A= (p.Tyr239=)
c.524A= (p.Tyr175=)
1g.209632690A>CCA344594628LAMB3c.715T>G (p.Tyr239Asp)
c.523T>G (p.Tyr175Asp)
1g.209632690A>GCA344594631LAMB3c.715T>C (p.Tyr239His)
c.523T>C (p.Tyr175His)
1g.209632690A>TCA344594634LAMB3c.715T>A (p.Tyr239Asn)
c.523T>A (p.Tyr175Asn)

Number of alleles fetched