Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209629761C>A | CA344592182 | LAMB3 | c.1108G>T (p.Ala370Ser) c.916G>T (p.Ala306Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629761C= | CA2484300789 | LAMB3 | c.1108G= (p.Ala370=) c.916G= (p.Ala306=) | |
1 | g.209629761C>G | CA344592183 | LAMB3 | c.1108G>C (p.Ala370Pro) c.916G>C (p.Ala306Pro) | |
1 | g.209629761C>T | CA344592184 | LAMB3 | c.1108G>A (p.Ala370Thr) c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629762T>A | CA423032216 | LAMB3 | c.1107A>T (p.Gly369=) c.915A>T (p.Gly305=) | |
1 | g.209629762T>C | CA423032217 | LAMB3 | c.1107A>G (p.Gly369=) c.915A>G (p.Gly305=) | |
1 | g.209629762T>G | CA423032218 | LAMB3 | c.1107A>C (p.Gly369=) c.915A>C (p.Gly305=) | |
1 | g.209629763C>A | CA344592185 | LAMB3 | c.1106G>T (p.Gly369Val) c.914G>T (p.Gly305Val) | |
1 | g.209629763C>G | CA344592186 | LAMB3 | c.1106G>C (p.Gly369Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
1 | g.209629763C>T | CA344592187 | LAMB3 | c.1106G>A (p.Gly369Glu) c.914G>A (p.Gly305Glu) | |
1 | g.209629764C>A | CA344592188 | LAMB3 | c.1105G>T (p.Gly369Ter) c.913G>T (p.Gly305Ter) | |
1 | g.209629764C>G | CA344592189 | LAMB3 | c.1105G>C (p.Gly369Arg) c.913G>C (p.Gly305Arg) | |
1 | g.209629764C>T | CA344592190 | LAMB3 | c.1105G>A (p.Gly369Arg) c.913G>A (p.Gly305Arg) | |
1 | g.209629765C>A | CA423032222 | LAMB3 | c.1104G>T (p.Pro368=) c.912G>T (p.Pro304=) | |
1 | g.209629765C= | CA1144135345 | LAMB3 | c.1104G= (p.Pro368=) c.912G= (p.Pro304=) | |
1 | g.209629765C>G | CA423032223 | LAMB3 | c.1104G>C (p.Pro368=) c.912G>C (p.Pro304=) | ClinVar |
1 | g.209629765C>T | CA1375697 | LAMB3 | c.1104G>A (p.Pro368=) c.912G>A (p.Pro304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629765_209629766delinsCG | CA2484300793 | LAMB3 | c.1103_1104delinsCG (p.Pro368=) c.911_912delinsCG (p.Pro304=) | |
1 | g.209629766G>A | CA1375698 | LAMB3 | c.1103C>T (p.Pro368Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629766G>C | CA344592191 | LAMB3 | c.1103C>G (p.Pro368Arg) c.911C>G (p.Pro304Arg) | |
1 | g.209629766G= | CA1145945800 | LAMB3 | c.1103C= (p.Pro368=) c.911C= (p.Pro304=) | |
1 | g.209629766G>T | CA344592192 | LAMB3 | c.1103C>A (p.Pro368Gln) c.911C>A (p.Pro304Gln) | |
1 | g.209629768del | CA529000276 | LAMB3 | c.1103del (p.Pro368ArgfsTer28) c.911del (p.Pro304ArgfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629767G>A | CA344592195 | LAMB3 | c.1102C>T (p.Pro368Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
1 | g.209629767G>C | CA344592194 | LAMB3 | c.1102C>G (p.Pro368Ala) c.910C>G (p.Pro304Ala) | |
1 | g.209629767G>T | CA344592193 | LAMB3 | c.1102C>A (p.Pro368Thr) c.910C>A (p.Pro304Thr) | |
1 | g.209629768G>A | CA423032225 | LAMB3 | c.1101C>T (p.Arg367=) c.909C>T (p.Arg303=) | |
1 | g.209629768G>C | CA423032227 | LAMB3 | c.1101C>G (p.Arg367=) c.909C>G (p.Arg303=) | |
1 | g.209629768G>T | CA423032228 | LAMB3 | c.1101C>A (p.Arg367=) c.909C>A (p.Arg303=) | ClinVar |
1 | g.209629769C>A | CA344592196 | LAMB3 | c.1100G>T (p.Arg367Leu) c.908G>T (p.Arg303Leu) | gnomAD v4 |
1 | g.209629769C= | CA2484300803 | LAMB3 | c.1100G= (p.Arg367=) c.908G= (p.Arg303=) | |
1 | g.209629769C>G | CA344592197 | LAMB3 | c.1100G>C (p.Arg367Pro) c.908G>C (p.Arg303Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629769C>T | CA1375699 | LAMB3 | c.1100G>A (p.Arg367His) c.908G>A (p.Arg303His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629770G>A | CA1375701 | LAMB3 | c.1099C>T (p.Arg367Cys) c.907C>T (p.Arg303Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629770G>C | CA344592198 | LAMB3 | c.1099C>G (p.Arg367Gly) c.907C>G (p.Arg303Gly) | |
1 | g.209629770G= | CA1141737038 | LAMB3 | c.1099C= (p.Arg367=) c.907C= (p.Arg303=) | |
1 | g.209629770G>T | CA1375700 | LAMB3 | c.1099C>A (p.Arg367Ser) c.907C>A (p.Arg303Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629771C>A | CA423032229 | LAMB3 | c.1098G>T (p.Arg366=) c.906G>T (p.Arg302=) | |
1 | g.209629771C= | CA2484300806 | LAMB3 | c.1098G= (p.Arg366=) c.906G= (p.Arg302=) | |
1 | g.209629771C>G | CA36758424 | LAMB3 | c.1098G>C (p.Arg366=) c.906G>C (p.Arg302=) | dbSNP |
1 | g.209629771C>T | CA423032230 | LAMB3 | c.1098G>A (p.Arg366=) c.906G>A (p.Arg302=) | |
1 | g.209629772C>A | CA344592199 | LAMB3 | c.1097G>T (p.Arg366Leu) c.905G>T (p.Arg302Leu) | |
1 | g.209629772C= | CA2484300810 | LAMB3 | c.1097G= (p.Arg366=) c.905G= (p.Arg302=) | |
1 | g.209629772C>G | CA344592200 | LAMB3 | c.1097G>C (p.Arg366Pro) c.905G>C (p.Arg302Pro) | |
1 | g.209629772C>T | CA36758426 | LAMB3 | c.1097G>A (p.Arg366Gln) c.905G>A (p.Arg302Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.209629773G>A | CA1375702 | LAMB3 | c.1096C>T (p.Arg366Trp) c.904C>T (p.Arg302Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629773G>C | CA36758430 | LAMB3 | c.1096C>G (p.Arg366Gly) c.904C>G (p.Arg302Gly) | dbSNP |
1 | g.209629773G= | CA1141874061 | LAMB3 | c.1096C= (p.Arg366=) c.904C= (p.Arg302=) | |
1 | g.209629773G>T | CA423032234 | LAMB3 | c.1096C>A (p.Arg366=) c.904C>A (p.Arg302=) | |
1 | g.209629774G>A | CA423032235 | LAMB3 | c.1095C>T (p.Asn365=) c.903C>T (p.Asn301=) | ClinVar |