Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209632657_209632661del | CA2650322072 | LAMB3 | c.745_749del (p.Ser249LeufsTer7) c.553_557del (p.Ser185LeufsTer7) | gnomAD v4 |
1 | g.209632661C>A | CA423032634 | LAMB3 | c.744G>T (p.Gly248=) c.552G>T (p.Gly184=) | |
1 | g.209632661C= | CA2484301993 | LAMB3 | c.744G= (p.Gly248=) c.552G= (p.Gly184=) | |
1 | g.209632661C>G | CA1375859 | LAMB3 | c.744G>C (p.Gly248=) c.552G>C (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632661C>T | CA1375858 | LAMB3 | c.744G>A (p.Gly248=) c.552G>A (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632662C>A | CA344594467 | LAMB3 | c.743G>T (p.Gly248Val) c.551G>T (p.Gly184Val) | |
1 | g.209632662C>G | CA344594471 | LAMB3 | c.743G>C (p.Gly248Ala) c.551G>C (p.Gly184Ala) | |
1 | g.209632662C>T | CA344594469 | LAMB3 | c.743G>A (p.Gly248Glu) c.551G>A (p.Gly184Glu) | |
1 | g.209632663C>A | CA344594475 | LAMB3 | c.742G>T (p.Gly248Trp) c.550G>T (p.Gly184Trp) | |
1 | g.209632663C>G | CA344594476 | LAMB3 | c.742G>C (p.Gly248Arg) c.550G>C (p.Gly184Arg) | gnomAD v4 |
1 | g.209632663C>T | CA344594479 | LAMB3 | c.742G>A (p.Gly248Arg) c.550G>A (p.Gly184Arg) | |
1 | g.209632664C>A | CA344594482 | LAMB3 | c.741G>T (p.Gln247His) c.549G>T (p.Gln183His) | dbSNP |
1 | g.209632664C= | CA2484301994 | LAMB3 | c.741G= (p.Gln247=) c.549G= (p.Gln183=) | |
1 | g.209632664C>G | CA344594484 | LAMB3 | c.741G>C (p.Gln247His) c.549G>C (p.Gln183His) | gnomAD v4 |
1 | g.209632664C>T | CA423032635 | LAMB3 | c.741G>A (p.Gln247=) c.549G>A (p.Gln183=) | ClinVar |
1 | g.209632665T>A | CA344594486 | LAMB3 | c.740A>T (p.Gln247Leu) c.548A>T (p.Gln183Leu) | gnomAD v4 |
1 | g.209632665T>C | CA344594488 | LAMB3 | c.740A>G (p.Gln247Arg) c.548A>G (p.Gln183Arg) | |
1 | g.209632665T>G | CA344594490 | LAMB3 | c.740A>C (p.Gln247Pro) c.548A>C (p.Gln183Pro) | |
1 | g.209632666G>A | CA344594492 | LAMB3 | c.739C>T (p.Gln247Ter) c.547C>T (p.Gln183Ter) | gnomAD v4 |
1 | g.209632666G>C | CA344594494 | LAMB3 | c.739C>G (p.Gln247Glu) c.547C>G (p.Gln183Glu) | |
1 | g.209632666G>T | CA344594497 | LAMB3 | c.739C>A (p.Gln247Lys) c.547C>A (p.Gln183Lys) | |
1 | g.209632667C>A | CA423032636 | LAMB3 | c.738G>T (p.Leu246=) c.546G>T (p.Leu182=) | |
1 | g.209632667C>G | CA423032637 | LAMB3 | c.738G>C (p.Leu246=) c.546G>C (p.Leu182=) | |
1 | g.209632667C>T | CA423032638 | LAMB3 | c.738G>A (p.Leu246=) c.546G>A (p.Leu182=) | gnomAD v4 |
1 | g.209632668A>C | CA344594500 | LAMB3 | c.737T>G (p.Leu246Arg) c.545T>G (p.Leu182Arg) | |
1 | g.209632668A>G | CA344594504 | LAMB3 | c.737T>C (p.Leu246Pro) c.545T>C (p.Leu182Pro) | |
1 | g.209632668A>T | CA344594502 | LAMB3 | c.737T>A (p.Leu246Gln) c.545T>A (p.Leu182Gln) | |
1 | g.209632669G>A | CA423032639 | LAMB3 | c.736C>T (p.Leu246=) c.544C>T (p.Leu182=) | |
1 | g.209632669G>C | CA344594507 | LAMB3 | c.736C>G (p.Leu246Val) c.544C>G (p.Leu182Val) | gnomAD v4 |
1 | g.209632669G>T | CA344594509 | LAMB3 | c.736C>A (p.Leu246Met) c.544C>A (p.Leu182Met) | |
1 | g.209632670A>C | CA423032640 | LAMB3 | c.735T>G (p.Arg245=) c.543T>G (p.Arg181=) | |
1 | g.209632670A>G | CA423032641 | LAMB3 | c.735T>C (p.Arg245=) c.543T>C (p.Arg181=) | |
1 | g.209632670A>T | CA423032642 | LAMB3 | c.735T>A (p.Arg245=) c.543T>A (p.Arg181=) | |
1 | g.209632671C>A | CA344594512 | LAMB3 | c.734G>T (p.Arg245Leu) c.542G>T (p.Arg181Leu) | |
1 | g.209632671C= | CA1141431189 | LAMB3 | c.734G= (p.Arg245=) c.542G= (p.Arg181=) | |
1 | g.209632671C>G | CA344594514 | LAMB3 | c.734G>C (p.Arg245Pro) c.542G>C (p.Arg181Pro) | |
1 | g.209632671C>T | CA1375860 | LAMB3 | c.734G>A (p.Arg245His) c.542G>A (p.Arg181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632672G>A | CA1375861 | LAMB3 | c.733C>T (p.Arg245Cys) c.541C>T (p.Arg181Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632672G>C | CA344594520 | LAMB3 | c.733C>G (p.Arg245Gly) c.541C>G (p.Arg181Gly) | dbSNP gnomAD v4 |
1 | g.209632672G= | CA2484301995 | LAMB3 | c.733C= (p.Arg245=) c.541C= (p.Arg181=) | |
1 | g.209632672G>T | CA344594523 | LAMB3 | c.733C>A (p.Arg245Ser) c.541C>A (p.Arg181Ser) | |
1 | g.209632673G>A | CA423032643 | LAMB3 | c.732C>T (p.Leu244=) c.540C>T (p.Leu180=) | |
1 | g.209632673G>C | CA423032645 | LAMB3 | c.732C>G (p.Leu244=) c.540C>G (p.Leu180=) | |
1 | g.209632673G>T | CA423032644 | LAMB3 | c.732C>A (p.Leu244=) c.540C>A (p.Leu180=) | |
1 | g.209632674A>C | CA344594527 | LAMB3 | c.731T>G (p.Leu244Arg) c.539T>G (p.Leu180Arg) | |
1 | g.209632674A>G | CA344594529 | LAMB3 | c.731T>C (p.Leu244Pro) c.539T>C (p.Leu180Pro) | |
1 | g.209632674A>T | CA344594531 | LAMB3 | c.731T>A (p.Leu244His) c.539T>A (p.Leu180His) | |
1 | g.209632675G>A | CA1375862 | LAMB3 | c.730C>T (p.Leu244Phe) c.538C>T (p.Leu180Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632675G>C | CA344594536 | LAMB3 | c.730C>G (p.Leu244Val) c.538C>G (p.Leu180Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632675G= | CA2484301996 | LAMB3 | c.730C= (p.Leu244=) c.538C= (p.Leu180=) | |
1 | g.209632675G>T | CA344594539 | LAMB3 | c.730C>A (p.Leu244Ile) c.538C>A (p.Leu180Ile) | |
1 | g.209632676C>A | CA344594544 | LAMB3 | c.729G>T (p.Gln243His) c.537G>T (p.Gln179His) | |
1 | g.209632676C>G | CA344594541 | LAMB3 | c.729G>C (p.Gln243His) c.537G>C (p.Gln179His) | |
1 | g.209632676C>T | CA423032646 | LAMB3 | c.729G>A (p.Gln243=) c.537G>A (p.Gln179=) | |
1 | g.209632677T>A | CA344594546 | LAMB3 | c.728A>T (p.Gln243Leu) c.536A>T (p.Gln179Leu) | |
1 | g.209632677T>C | CA344594548 | LAMB3 | c.728A>G (p.Gln243Arg) c.536A>G (p.Gln179Arg) | dbSNP |
1 | g.209632677T>G | CA344594552 | LAMB3 | c.728A>C (p.Gln243Pro) c.536A>C (p.Gln179Pro) | |
1 | g.209632677T= | CA2484301997 | LAMB3 | c.728A= (p.Gln243=) c.536A= (p.Gln179=) | |
1 | g.209632678G>A | CA341658 | LAMB3 | c.727C>T (p.Gln243Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632678G>C | CA344594554 | LAMB3 | c.727C>G (p.Gln243Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
1 | g.209632678G= | CA1141188135 | LAMB3 | c.727C= (p.Gln243=) c.535C= (p.Gln179=) | |
1 | g.209632678G>T | CA344594557 | LAMB3 | c.727C>A (p.Gln243Lys) c.535C>A (p.Gln179Lys) | |
1 | g.209632680del | CA2650322127 | LAMB3 | c.727del (p.Gln243SerfsTer?) c.535del (p.Gln179SerfsTer?) | gnomAD v4 |
1 | g.209632679G>A | CA423032647 | LAMB3 | c.726C>T (p.Ser242=) c.534C>T (p.Ser178=) | |
1 | g.209632679G>C | CA423032648 | LAMB3 | c.726C>G (p.Ser242=) c.534C>G (p.Ser178=) | dbSNP gnomAD v4 |
1 | g.209632679G>T | CA423032649 | LAMB3 | c.726C>A (p.Ser242=) c.534C>A (p.Ser178=) | |
1 | g.209632680G>A | CA344594560 | LAMB3 | c.725C>T (p.Ser242Phe) c.533C>T (p.Ser178Phe) | gnomAD v4 |
1 | g.209632680G>C | CA344594562 | LAMB3 | c.725C>G (p.Ser242Cys) c.533C>G (p.Ser178Cys) | |
1 | g.209632680G>T | CA344594564 | LAMB3 | c.725C>A (p.Ser242Tyr) c.533C>A (p.Ser178Tyr) | |
1 | g.209632681A>C | CA344594567 | LAMB3 | c.724T>G (p.Ser242Ala) c.532T>G (p.Ser178Ala) | |
1 | g.209632681A>G | CA344594569 | LAMB3 | c.724T>C (p.Ser242Pro) c.532T>C (p.Ser178Pro) | |
1 | g.209632681A>T | CA344594571 | LAMB3 | c.724T>A (p.Ser242Thr) c.532T>A (p.Ser178Thr) | |
1 | g.209632682C>A | CA423032652 | LAMB3 | c.723G>T (p.Val241=) c.531G>T (p.Val177=) | |
1 | g.209632682C>G | CA423032651 | LAMB3 | c.723G>C (p.Val241=) c.531G>C (p.Val177=) | gnomAD v4 |
1 | g.209632682C>T | CA423032650 | LAMB3 | c.723G>A (p.Val241=) c.531G>A (p.Val177=) | |
1 | g.209632682_209632690delinsCACAGCATA | CA2484301998 | LAMB3 | c.715_723delinsTATGCTGTG (p.Tyr239=) c.523_531delinsTATGCTGTG (p.Tyr175=) | |
1 | g.209632683A>C | CA344594584 | LAMB3 | c.722T>G (p.Val241Gly) c.530T>G (p.Val177Gly) | |
1 | g.209632683A>G | CA344594575 | LAMB3 | c.722T>C (p.Val241Ala) c.530T>C (p.Val177Ala) | gnomAD v4 |
1 | g.209632683A>T | CA344594587 | LAMB3 | c.722T>A (p.Val241Glu) c.530T>A (p.Val177Glu) | |
1 | g.209632683_209632690del | CA1375863 | LAMB3 | c.715_722del (p.Tyr239ValfsTer16) c.523_530del (p.Tyr175ValfsTer16) | dbSNP ExAC gnomAD v2 |
1 | g.209632684C>A | CA344594589 | LAMB3 | c.721G>T (p.Val241Leu) c.529G>T (p.Val177Leu) | |
1 | g.209632684C= | CA2484301999 | LAMB3 | c.721G= (p.Val241=) c.529G= (p.Val177=) | |
1 | g.209632684C>G | CA344594591 | LAMB3 | c.721G>C (p.Val241Leu) c.529G>C (p.Val177Leu) | |
1 | g.209632684C>T | CA1375864 | LAMB3 | c.721G>A (p.Val241Met) c.529G>A (p.Val177Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632685A>C | CA423032653 | LAMB3 | c.720T>G (p.Ala240=) c.528T>G (p.Ala176=) | |
1 | g.209632685A>G | CA423032654 | LAMB3 | c.720T>C (p.Ala240=) c.528T>C (p.Ala176=) | gnomAD v4 |
1 | g.209632685A>T | CA423032655 | LAMB3 | c.720T>A (p.Ala240=) c.528T>A (p.Ala176=) | |
1 | g.209632686G>A | CA344594597 | LAMB3 | c.719C>T (p.Ala240Val) c.527C>T (p.Ala176Val) | |
1 | g.209632686G>C | CA344594602 | LAMB3 | c.719C>G (p.Ala240Gly) c.527C>G (p.Ala176Gly) | |
1 | g.209632686G>T | CA344594605 | LAMB3 | c.719C>A (p.Ala240Asp) c.527C>A (p.Ala176Asp) | |
1 | g.209632687C>A | CA344594610 | LAMB3 | c.718G>T (p.Ala240Ser) c.526G>T (p.Ala176Ser) | |
1 | g.209632687C>G | CA344594611 | LAMB3 | c.718G>C (p.Ala240Pro) c.526G>C (p.Ala176Pro) | |
1 | g.209632687C>T | CA344594613 | LAMB3 | c.718G>A (p.Ala240Thr) c.526G>A (p.Ala176Thr) | |
1 | g.209632688A>C | CA344594616 | LAMB3 | c.717T>G (p.Tyr239Ter) c.525T>G (p.Tyr175Ter) | |
1 | g.209632688A>G | CA423032656 | LAMB3 | c.717T>C (p.Tyr239=) c.525T>C (p.Tyr175=) | |
1 | g.209632688A>T | CA344594617 | LAMB3 | c.717T>A (p.Tyr239Ter) c.525T>A (p.Tyr175Ter) | |
1 | g.209632689T>A | CA344594625 | LAMB3 | c.716A>T (p.Tyr239Phe) c.524A>T (p.Tyr175Phe) | |
1 | g.209632689T>C | CA344594621 | LAMB3 | c.716A>G (p.Tyr239Cys) c.524A>G (p.Tyr175Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632689T>G | CA344594623 | LAMB3 | c.716A>C (p.Tyr239Ser) c.524A>C (p.Tyr175Ser) | |
1 | g.209632689T= | CA2484302000 | LAMB3 | c.716A= (p.Tyr239=) c.524A= (p.Tyr175=) | |
1 | g.209632690A>C | CA344594628 | LAMB3 | c.715T>G (p.Tyr239Asp) c.523T>G (p.Tyr175Asp) | |
1 | g.209632690A>G | CA344594631 | LAMB3 | c.715T>C (p.Tyr239His) c.523T>C (p.Tyr175His) | |
1 | g.209632690A>T | CA344594634 | LAMB3 | c.715T>A (p.Tyr239Asn) c.523T>A (p.Tyr175Asn) | |
1 | g.209632691G>A | CA423032657 | LAMB3 | c.714C>T (p.Tyr238=) c.522C>T (p.Tyr174=) | |
1 | g.209632691G>C | CA344594638 | LAMB3 | c.714C>G (p.Tyr238Ter) c.522C>G (p.Tyr174Ter) | |
1 | g.209632691G= | CA2484302001 | LAMB3 | c.714C= (p.Tyr238=) c.522C= (p.Tyr174=) | |
1 | g.209632691G>T | CA344594640 | LAMB3 | c.714C>A (p.Tyr238Ter) c.522C>A (p.Tyr174Ter) | ClinVar dbSNP |
1 | g.209632692T>A | CA344594641 | LAMB3 | c.713A>T (p.Tyr238Phe) c.521A>T (p.Tyr174Phe) | |
1 | g.209632692T>C | CA344594643 | LAMB3 | c.713A>G (p.Tyr238Cys) c.521A>G (p.Tyr174Cys) | |
1 | g.209632692T>G | CA344594646 | LAMB3 | c.713A>C (p.Tyr238Ser) c.521A>C (p.Tyr174Ser) | gnomAD v4 |
1 | g.209632693A>C | CA344594649 | LAMB3 | c.712T>G (p.Tyr238Asp) c.520T>G (p.Tyr174Asp) | |
1 | g.209632693A>G | CA344594652 | LAMB3 | c.712T>C (p.Tyr238His) c.520T>C (p.Tyr174His) | |
1 | g.209632693A>T | CA344594654 | LAMB3 | c.712T>A (p.Tyr238Asn) c.520T>A (p.Tyr174Asn) | gnomAD v4 |
1 | g.209632694G>A | CA423032658 | LAMB3 | c.711C>T (p.Ala237=) c.519C>T (p.Ala173=) | |
1 | g.209632694G>C | CA423032659 | LAMB3 | c.711C>G (p.Ala237=) c.519C>G (p.Ala173=) | |
1 | g.209632694G>T | CA423032660 | LAMB3 | c.711C>A (p.Ala237=) c.519C>A (p.Ala173=) | |
1 | g.209632695G>A | CA344594662 | LAMB3 | c.710C>T (p.Ala237Val) c.518C>T (p.Ala173Val) | dbSNP gnomAD v4 |
1 | g.209632695G>C | CA344594659 | LAMB3 | c.710C>G (p.Ala237Gly) c.518C>G (p.Ala173Gly) | |
1 | g.209632695G= | CA2484302002 | LAMB3 | c.710C= (p.Ala237=) c.518C= (p.Ala173=) | |
1 | g.209632695G>T | CA344594657 | LAMB3 | c.710C>A (p.Ala237Asp) c.518C>A (p.Ala173Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632696C>A | CA344594665 | LAMB3 | c.709G>T (p.Ala237Ser) c.517G>T (p.Ala173Ser) | |
1 | g.209632696C= | CA2484302003 | LAMB3 | c.709G= (p.Ala237=) c.517G= (p.Ala173=) | |
1 | g.209632696C>G | CA344594669 | LAMB3 | c.709G>C (p.Ala237Pro) c.517G>C (p.Ala173Pro) | |
1 | g.209632696C>T | CA1375865 | LAMB3 | c.709G>A (p.Ala237Thr) c.517G>A (p.Ala173Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632697G>A | CA1375866 | LAMB3 | c.708C>T (p.Ser236=) c.516C>T (p.Ser172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632697G>C | CA344594677 | LAMB3 | c.708C>G (p.Ser236Arg) c.516C>G (p.Ser172Arg) | |
1 | g.209632697G= | CA2484302004 | LAMB3 | c.708C= (p.Ser236=) c.516C= (p.Ser172=) | |
1 | g.209632697G>T | CA344594673 | LAMB3 | c.708C>A (p.Ser236Arg) c.516C>A (p.Ser172Arg) | gnomAD v4 |
1 | g.209632697dup | CA2586967988 | LAMB3 | c.708dup (p.Ala237ArgfsTer21) c.516dup (p.Ala173ArgfsTer21) | |
1 | g.209632698C>A | CA344594680 | LAMB3 | c.707G>T (p.Ser236Ile) c.515G>T (p.Ser172Ile) | |
1 | g.209632698C= | CA2484302005 | LAMB3 | c.707G= (p.Ser236=) c.515G= (p.Ser172=) | |
1 | g.209632698C>G | CA1375867 | LAMB3 | c.707G>C (p.Ser236Thr) c.515G>C (p.Ser172Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632698C>T | CA344594685 | LAMB3 | c.707G>A (p.Ser236Asn) c.515G>A (p.Ser172Asn) | |
1 | g.209632699T>A | CA344594686 | LAMB3 | c.706A>T (p.Ser236Cys) c.514A>T (p.Ser172Cys) | |
1 | g.209632699T>C | CA344594687 | LAMB3 | c.706A>G (p.Ser236Gly) c.514A>G (p.Ser172Gly) | |
1 | g.209632699T>G | CA344594688 | LAMB3 | c.706A>C (p.Ser236Arg) c.514A>C (p.Ser172Arg) | |
1 | g.209632700G>A | CA1375868 | LAMB3 | c.705C>T (p.Pro235=) c.513C>T (p.Pro171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632700G>C | CA423032661 | LAMB3 | c.705C>G (p.Pro235=) c.513C>G (p.Pro171=) | |
1 | g.209632700G= | CA1146313291 | LAMB3 | c.705C= (p.Pro235=) c.513C= (p.Pro171=) | |
1 | g.209632700G>T | CA423032662 | LAMB3 | c.705C>A (p.Pro235=) c.513C>A (p.Pro171=) | |
1 | g.209632701G>A | CA344594689 | LAMB3 | c.704C>T (p.Pro235Leu) c.512C>T (p.Pro171Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632701G>C | CA344594690 | LAMB3 | c.704C>G (p.Pro235Arg) c.512C>G (p.Pro171Arg) | |
1 | g.209632701G= | CA2484302006 | LAMB3 | c.704C= (p.Pro235=) c.512C= (p.Pro171=) | |
1 | g.209632701G>T | CA344594691 | LAMB3 | c.704C>A (p.Pro235His) c.512C>A (p.Pro171His) | |
1 | g.209632702G>A | CA344594694 | LAMB3 | c.703C>T (p.Pro235Ser) c.511C>T (p.Pro171Ser) | |
1 | g.209632702G>C | CA344594693 | LAMB3 | c.703C>G (p.Pro235Ala) c.511C>G (p.Pro171Ala) | |
1 | g.209632702G= | CA2484302007 | LAMB3 | c.703C= (p.Pro235=) c.511C= (p.Pro171=) | |
1 | g.209632702G>T | CA344594692 | LAMB3 | c.703C>A (p.Pro235Thr) c.511C>A (p.Pro171Thr) | dbSNP gnomAD v2 |
1 | g.209632703A>C | CA423032663 | LAMB3 | c.702T>G (p.Pro234=) c.510T>G (p.Pro170=) | |
1 | g.209632703A>G | CA423032665 | LAMB3 | c.702T>C (p.Pro234=) c.510T>C (p.Pro170=) | |
1 | g.209632703A>T | CA423032664 | LAMB3 | c.702T>A (p.Pro234=) c.510T>A (p.Pro170=) | |
1 | g.209632704G>A | CA344594695 | LAMB3 | c.701C>T (p.Pro234Leu) c.509C>T (p.Pro170Leu) | gnomAD v4 |
1 | g.209632704G>C | CA344594696 | LAMB3 | c.701C>G (p.Pro234Arg) c.509C>G (p.Pro170Arg) | gnomAD v4 |
1 | g.209632704G= | CA2484302008 | LAMB3 | c.701C= (p.Pro234=) c.509C= (p.Pro170=) | |
1 | g.209632704G>T | CA1375869 | LAMB3 | c.701C>A (p.Pro234His) c.509C>A (p.Pro170His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632705G>A | CA344594697 | LAMB3 | c.700C>T (p.Pro234Ser) c.508C>T (p.Pro170Ser) | |
1 | g.209632705G>C | CA344594698 | LAMB3 | c.700C>G (p.Pro234Ala) c.508C>G (p.Pro170Ala) | |
1 | g.209632705G>T | CA344594699 | LAMB3 | c.700C>A (p.Pro234Thr) c.508C>A (p.Pro170Thr) | gnomAD v4 |
1 | g.209632706G>A | CA423032666 | LAMB3 | c.699C>T (p.His233=) c.507C>T (p.His169=) | |
1 | g.209632706G>C | CA344594700 | LAMB3 | c.699C>G (p.His233Gln) c.507C>G (p.His169Gln) | |
1 | g.209632706G>T | CA344594701 | LAMB3 | c.699C>A (p.His233Gln) c.507C>A (p.His169Gln) | |
1 | g.209632707T>A | CA344594702 | LAMB3 | c.698A>T (p.His233Leu) c.506A>T (p.His169Leu) | |
1 | g.209632707T>C | CA344594703 | LAMB3 | c.698A>G (p.His233Arg) c.506A>G (p.His169Arg) | |
1 | g.209632707T>G | CA344594704 | LAMB3 | c.698A>C (p.His233Pro) c.506A>C (p.His169Pro) | dbSNP |
1 | g.209632707T= | CA2484302010 | LAMB3 | c.698A= (p.His233=) c.506A= (p.His169=) | |
1 | g.209632707_209632708delinsTG | CA2484302009 | LAMB3 | c.697_698delinsCA (p.His233=) c.505_506delinsCA (p.His169=) | |
1 | g.209632708G>A | CA344594706 | LAMB3 | c.697C>T (p.His233Tyr) c.505C>T (p.His169Tyr) | gnomAD v4 |
1 | g.209632708G>C | CA344594707 | LAMB3 | c.697C>G (p.His233Asp) c.505C>G (p.His169Asp) | ClinVar gnomAD v4 |
1 | g.209632708G>T | CA344594705 | LAMB3 | c.697C>A (p.His233Asn) c.505C>A (p.His169Asn) | |
1 | g.209632709del | CA1375870 | LAMB3 | c.697del (p.His233ThrfsTer?) c.505del (p.His169ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632709G>A | CA36759726 | LAMB3 | c.696C>T (p.Tyr232=) c.504C>T (p.Tyr168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632709G>C | CA344594708 | LAMB3 | c.696C>G (p.Tyr232Ter) c.504C>G (p.Tyr168Ter) | |
1 | g.209632709G= | CA2484302011 | LAMB3 | c.696C= (p.Tyr232=) c.504C= (p.Tyr168=) | |
1 | g.209632709G>T | CA344594709 | LAMB3 | c.696C>A (p.Tyr232Ter) c.504C>A (p.Tyr168Ter) | ClinVar |
1 | g.209632710T>A | CA344594710 | LAMB3 | c.695A>T (p.Tyr232Phe) c.503A>T (p.Tyr168Phe) | |
1 | g.209632710T>C | CA344594711 | LAMB3 | c.695A>G (p.Tyr232Cys) c.503A>G (p.Tyr168Cys) | gnomAD v4 |
1 | g.209632710T>G | CA344594712 | LAMB3 | c.695A>C (p.Tyr232Ser) c.503A>C (p.Tyr168Ser) | |
1 | g.209632711A>C | CA344594713 | LAMB3 | c.694T>G (p.Tyr232Asp) c.502T>G (p.Tyr168Asp) | |
1 | g.209632711A>G | CA344594714 | LAMB3 | c.694T>C (p.Tyr232His) c.502T>C (p.Tyr168His) | gnomAD v4 |
1 | g.209632711A>T | CA344594715 | LAMB3 | c.694T>A (p.Tyr232Asn) c.502T>A (p.Tyr168Asn) | |
1 | g.209632712G>A | CA423032667 | LAMB3 | c.693C>T (p.Gly231=) c.501C>T (p.Gly167=) | |
1 | g.209632712G>C | CA423032669 | LAMB3 | c.693C>G (p.Gly231=) c.501C>G (p.Gly167=) | |
1 | g.209632712G>T | CA423032668 | LAMB3 | c.693C>A (p.Gly231=) c.501C>A (p.Gly167=) | dbSNP gnomAD v4 |
1 | g.209632713C>A | CA1375871 | LAMB3 | c.692G>T (p.Gly231Val) c.500G>T (p.Gly167Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632713C= | CA1141947754 | LAMB3 | c.692G= (p.Gly231=) c.500G= (p.Gly167=) | |
1 | g.209632713C>G | CA344594716 | LAMB3 | c.692G>C (p.Gly231Ala) c.500G>C (p.Gly167Ala) | |
1 | g.209632713C>T | CA344594717 | LAMB3 | c.692G>A (p.Gly231Asp) c.500G>A (p.Gly167Asp) | COSMIC |
1 | g.209632714C>A | CA344594720 | LAMB3 | c.691G>T (p.Gly231Cys) c.499G>T (p.Gly167Cys) | |
1 | g.209632714C>G | CA344594719 | LAMB3 | c.691G>C (p.Gly231Arg) c.499G>C (p.Gly167Arg) | |
1 | g.209632714C>T | CA344594718 | LAMB3 | c.691G>A (p.Gly231Ser) c.499G>A (p.Gly167Ser) | |
1 | g.209632715C>A | CA344594721 | LAMB3 | c.690G>T (p.Arg230Ser) c.498G>T (p.Arg166Ser) | |
1 | g.209632715C= | CA2484302012 | LAMB3 | c.690G= (p.Arg230=) c.498G= (p.Arg166=) | |
1 | g.209632715C>G | CA344594722 | LAMB3 | c.690G>C (p.Arg230Ser) c.498G>C (p.Arg166Ser) | |
1 | g.209632715C>T | CA423032670 | LAMB3 | c.690G>A (p.Arg230=) c.498G>A (p.Arg166=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632716C>A | CA344594723 | LAMB3 | c.689G>T (p.Arg230Met) c.497G>T (p.Arg166Met) | gnomAD v4 |
1 | g.209632716C= | CA1140725346 | LAMB3 | c.689G= (p.Arg230=) c.497G= (p.Arg166=) | |
1 | g.209632716C>G | CA1375872 | LAMB3 | c.689G>C (p.Arg230Thr) c.497G>C (p.Arg166Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632716C>T | CA344594724 | LAMB3 | c.689G>A (p.Arg230Lys) c.497G>A (p.Arg166Lys) | |
1 | g.209632717T>A | CA344594725 | LAMB3 | c.688A>T (p.Arg230Trp) c.496A>T (p.Arg166Trp) | |
1 | g.209632717T>C | CA344594726 | LAMB3 | c.688A>G (p.Arg230Gly) c.496A>G (p.Arg166Gly) | gnomAD v4 |
1 | g.209632717T>G | CA423032671 | LAMB3 | c.688A>C (p.Arg230=) c.496A>C (p.Arg166=) | |
1 | g.209632718T>A | CA344594727 | LAMB3 | c.687A>T (p.Gln229His) c.495A>T (p.Gln165His) | |
1 | g.209632718T>C | CA423032672 | LAMB3 | c.687A>G (p.Gln229=) c.495A>G (p.Gln165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632718T>G | CA344594728 | LAMB3 | c.687A>C (p.Gln229His) c.495A>C (p.Gln165His) | |
1 | g.209632718T= | CA2484302013 | LAMB3 | c.687A= (p.Gln229=) c.495A= (p.Gln165=) | |
1 | g.209632719T>A | CA344594729 | LAMB3 | c.686A>T (p.Gln229Leu) c.494A>T (p.Gln165Leu) | |
1 | g.209632719T>C | CA344594730 | LAMB3 | c.686A>G (p.Gln229Arg) c.494A>G (p.Gln165Arg) | gnomAD v4 |
1 | g.209632719T>G | CA344594731 | LAMB3 | c.686A>C (p.Gln229Pro) c.494A>C (p.Gln165Pro) | gnomAD v4 |
1 | g.209632720G>A | CA344594734 | LAMB3 | c.685C>T (p.Gln229Ter) c.493C>T (p.Gln165Ter) | |
1 | g.209632720G>C | CA344594733 | LAMB3 | c.685C>G (p.Gln229Glu) c.493C>G (p.Gln165Glu) | |
1 | g.209632720G>T | CA344594732 | LAMB3 | c.685C>A (p.Gln229Lys) c.493C>A (p.Gln165Lys) | |
1 | g.209632721G>A | CA423032673 | LAMB3 | c.684C>T (p.Pro228=) c.492C>T (p.Pro164=) | |
1 | g.209632721G>C | CA423032674 | LAMB3 | c.684C>G (p.Pro228=) c.492C>G (p.Pro164=) | |
1 | g.209632721G>T | CA423032675 | LAMB3 | c.684C>A (p.Pro228=) c.492C>A (p.Pro164=) | |
1 | g.209632722G>A | CA344594735 | LAMB3 | c.683C>T (p.Pro228Leu) c.491C>T (p.Pro164Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632722G>C | CA344594737 | LAMB3 | c.683C>G (p.Pro228Arg) c.491C>G (p.Pro164Arg) | |
1 | g.209632722G= | CA2484302014 | LAMB3 | c.683C= (p.Pro228=) c.491C= (p.Pro164=) | |
1 | g.209632722G>T | CA344594736 | LAMB3 | c.683C>A (p.Pro228His) c.491C>A (p.Pro164His) | |
1 | g.209632723G>A | CA344594738 | LAMB3 | c.682C>T (p.Pro228Ser) c.490C>T (p.Pro164Ser) | gnomAD v4 |
1 | g.209632723G>C | CA344594739 | LAMB3 | c.682C>G (p.Pro228Ala) c.490C>G (p.Pro164Ala) | |
1 | g.209632723G>T | CA344594740 | LAMB3 | c.682C>A (p.Pro228Thr) c.490C>A (p.Pro164Thr) | |
1 | g.209632724C>A | CA423032676 | LAMB3 | c.681G>T (p.Val227=) c.489G>T (p.Val163=) | |
1 | g.209632724C>G | CA423032677 | LAMB3 | c.681G>C (p.Val227=) c.489G>C (p.Val163=) | |
1 | g.209632724C>T | CA423032678 | LAMB3 | c.681G>A (p.Val227=) c.489G>A (p.Val163=) | |
1 | g.209632725A>C | CA344594741 | LAMB3 | c.680T>G (p.Val227Gly) c.488T>G (p.Val163Gly) | |
1 | g.209632725A>G | CA344594742 | LAMB3 | c.680T>C (p.Val227Ala) c.488T>C (p.Val163Ala) | |
1 | g.209632725A>T | CA344594743 | LAMB3 | c.680T>A (p.Val227Glu) c.488T>A (p.Val163Glu) | |
1 | g.209632726C>A | CA344594744 | LAMB3 | c.679G>T (p.Val227Leu) c.487G>T (p.Val163Leu) | |
1 | g.209632726C= | CA2484302015 | LAMB3 | c.679G= (p.Val227=) c.487G= (p.Val163=) | |
1 | g.209632726C>G | CA344594745 | LAMB3 | c.679G>C (p.Val227Leu) c.487G>C (p.Val163Leu) | |
1 | g.209632726C>T | CA344594746 | LAMB3 | c.679G>A (p.Val227Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632727A= | CA2484302016 | LAMB3 | c.678T= (p.Pro226=) c.486T= (p.Pro162=) | |
1 | g.209632727A>C | CA423032679 | LAMB3 | c.678T>G (p.Pro226=) c.486T>G (p.Pro162=) | |
1 | g.209632727A>G | CA1375873 | LAMB3 | c.678T>C (p.Pro226=) c.486T>C (p.Pro162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632727A>T | CA423032680 | LAMB3 | c.678T>A (p.Pro226=) c.486T>A (p.Pro162=) | |
1 | g.209632728G>A | CA344594747 | LAMB3 | c.677C>T (p.Pro226Leu) c.485C>T (p.Pro162Leu) | gnomAD v4 |
1 | g.209632728G>C | CA344594748 | LAMB3 | c.677C>G (p.Pro226Arg) c.485C>G (p.Pro162Arg) | |
1 | g.209632728G>T | CA344594749 | LAMB3 | c.677C>A (p.Pro226His) c.485C>A (p.Pro162His) | |
1 | g.209632729G>A | CA344594750 | LAMB3 | c.676C>T (p.Pro226Ser) c.484C>T (p.Pro162Ser) | |
1 | g.209632729G>C | CA344594752 | LAMB3 | c.676C>G (p.Pro226Ala) c.484C>G (p.Pro162Ala) | |
1 | g.209632729G>T | CA344594751 | LAMB3 | c.676C>A (p.Pro226Thr) c.484C>A (p.Pro162Thr) | |
1 | g.209632730G>A | CA423032681 | LAMB3 | c.675C>T (p.Ala225=) c.483C>T (p.Ala161=) | ClinVar dbSNP |
1 | g.209632730G>C | CA423032682 | LAMB3 | c.675C>G (p.Ala225=) c.483C>G (p.Ala161=) | |
1 | g.209632730G= | CA2484302017 | LAMB3 | c.675C= (p.Ala225=) c.483C= (p.Ala161=) | |
1 | g.209632730G>T | CA423032683 | LAMB3 | c.675C>A (p.Ala225=) c.483C>A (p.Ala161=) | |
1 | g.209632731G>A | CA344594753 | LAMB3 | c.674C>T (p.Ala225Val) c.482C>T (p.Ala161Val) | |
1 | g.209632731G>C | CA344594754 | LAMB3 | c.674C>G (p.Ala225Gly) c.482C>G (p.Ala161Gly) | |
1 | g.209632731G>T | CA344594755 | LAMB3 | c.674C>A (p.Ala225Asp) c.482C>A (p.Ala161Asp) | |
1 | g.209632731_209632732delinsGC | CA2484302018 | LAMB3 | c.673_674delinsGC (p.Ala225=) c.481_482delinsGC (p.Ala161=) | |
1 | g.209632732C>A | CA344594756 | LAMB3 | c.673G>T (p.Ala225Ser) c.481G>T (p.Ala161Ser) | |
1 | g.209632732C>G | CA344594757 | LAMB3 | c.673G>C (p.Ala225Pro) c.481G>C (p.Ala161Pro) | |
1 | g.209632732C>T | CA344594758 | LAMB3 | c.673G>A (p.Ala225Thr) c.481G>A (p.Ala161Thr) | gnomAD v4 |
1 | g.209632733del | CA529000339 | LAMB3 | c.673del (p.Ala225ProfsTer?) c.481del (p.Ala161ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632733C>A | CA1375874 | LAMB3 | c.672G>T (p.Leu224=) c.480G>T (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632733C= | CA1148483919 | LAMB3 | c.672G= (p.Leu224=) c.480G= (p.Leu160=) | |
1 | g.209632733C>G | CA423032685 | LAMB3 | c.672G>C (p.Leu224=) c.480G>C (p.Leu160=) | |
1 | g.209632733C>T | CA423032684 | LAMB3 | c.672G>A (p.Leu224=) c.480G>A (p.Leu160=) | ClinVar |
1 | g.209632734A= | CA1141651618 | LAMB3 | c.671T= (p.Leu224=) c.479T= (p.Leu160=) | |
1 | g.209632734A>C | CA344594759 | LAMB3 | c.671T>G (p.Leu224Arg) c.479T>G (p.Leu160Arg) | |
1 | g.209632734A>G | CA1375875 | LAMB3 | c.671T>C (p.Leu224Pro) c.479T>C (p.Leu160Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632734A>T | CA344594760 | LAMB3 | c.671T>A (p.Leu224Gln) c.479T>A (p.Leu160Gln) | |
1 | g.209632735G>A | CA423032686 | LAMB3 | c.670C>T (p.Leu224=) c.478C>T (p.Leu160=) | |
1 | g.209632735G>C | CA344594762 | LAMB3 | c.670C>G (p.Leu224Val) c.478C>G (p.Leu160Val) | |
1 | g.209632735G>T | CA344594761 | LAMB3 | c.670C>A (p.Leu224Met) c.478C>A (p.Leu160Met) | COSMIC |
1 | g.209632735_209632737del | CA2650322168 | LAMB3 | c.668_670del (p.Arg223_Leu224delinsMet) c.476_478del (p.Arg159_Leu160delinsMet) | gnomAD v4 |
1 | g.209632736C>A | CA344594763 | LAMB3 | c.669G>T (p.Arg223Ser) c.477G>T (p.Arg159Ser) | |
1 | g.209632736C= | CA1143404190 | LAMB3 | c.669G= (p.Arg223=) c.477G= (p.Arg159=) | |
1 | g.209632736C>G | CA344594764 | LAMB3 | c.669G>C (p.Arg223Ser) c.477G>C (p.Arg159Ser) | |
1 | g.209632736C>T | CA1375876 | LAMB3 | c.669G>A (p.Arg223=) c.477G>A (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632737C>A | CA344594765 | LAMB3 | c.668G>T (p.Arg223Met) c.476G>T (p.Arg159Met) | |
1 | g.209632737C>G | CA344594766 | LAMB3 | c.668G>C (p.Arg223Thr) c.476G>C (p.Arg159Thr) | |
1 | g.209632737C>T | CA344594767 | LAMB3 | c.668G>A (p.Arg223Lys) c.476G>A (p.Arg159Lys) | gnomAD v4 |
1 | g.209632738del | CA2573131527 | LAMB3 | c.667del (p.Arg223GlyfsTer?) c.475del (p.Arg159GlyfsTer?) | ClinVar dbSNP |
1 | g.209632738T>A | CA344594768 | LAMB3 | c.667A>T (p.Arg223Trp) c.475A>T (p.Arg159Trp) | |
1 | g.209632738T>C | CA344594769 | LAMB3 | c.667A>G (p.Arg223Gly) c.475A>G (p.Arg159Gly) | |
1 | g.209632738T>G | CA423032687 | LAMB3 | c.667A>C (p.Arg223=) c.475A>C (p.Arg159=) | |
1 | g.209632739G>A | CA1375877 | LAMB3 | c.666C>T (p.Thr222=) c.474C>T (p.Thr158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632739G>C | CA423032689 | LAMB3 | c.666C>G (p.Thr222=) c.474C>G (p.Thr158=) | |
1 | g.209632739G= | CA1148427641 | LAMB3 | c.666C= (p.Thr222=) c.474C= (p.Thr158=) | |
1 | g.209632739G>T | CA423032688 | LAMB3 | c.666C>A (p.Thr222=) c.474C>A (p.Thr158=) | |
1 | g.209632740G>A | CA344594770 | LAMB3 | c.665C>T (p.Thr222Ile) c.473C>T (p.Thr158Ile) | gnomAD v4 |
1 | g.209632740G>C | CA344594771 | LAMB3 | c.665C>G (p.Thr222Ser) c.473C>G (p.Thr158Ser) | |
1 | g.209632740G>T | CA344594772 | LAMB3 | c.665C>A (p.Thr222Asn) c.473C>A (p.Thr158Asn) | |
1 | g.209632741T>A | CA344594774 | LAMB3 | c.664A>T (p.Thr222Ser) c.472A>T (p.Thr158Ser) | gnomAD v4 |
1 | g.209632741T>C | CA344594775 | LAMB3 | c.664A>G (p.Thr222Ala) c.472A>G (p.Thr158Ala) | |
1 | g.209632741T>G | CA344594773 | LAMB3 | c.664A>C (p.Thr222Pro) c.472A>C (p.Thr158Pro) | |
1 | g.209632742G>A | CA423032690 | LAMB3 | c.663C>T (p.Phe221=) c.471C>T (p.Phe157=) | |
1 | g.209632742G>C | CA344594776 | LAMB3 | c.663C>G (p.Phe221Leu) c.471C>G (p.Phe157Leu) | |
1 | g.209632742G>T | CA344594777 | LAMB3 | c.663C>A (p.Phe221Leu) c.471C>A (p.Phe157Leu) | |
1 | g.209632743A>C | CA344594778 | LAMB3 | c.662T>G (p.Phe221Cys) c.470T>G (p.Phe157Cys) | |
1 | g.209632743A>G | CA344594779 | LAMB3 | c.662T>C (p.Phe221Ser) c.470T>C (p.Phe157Ser) | |
1 | g.209632743A>T | CA344594780 | LAMB3 | c.662T>A (p.Phe221Tyr) c.470T>A (p.Phe157Tyr) | |
1 | g.209632744A>C | CA344594783 | LAMB3 | c.661T>G (p.Phe221Val) c.469T>G (p.Phe157Val) | |
1 | g.209632744A>G | CA344594781 | LAMB3 | c.661T>C (p.Phe221Leu) c.469T>C (p.Phe157Leu) | |
1 | g.209632744A>T | CA344594782 | LAMB3 | c.661T>A (p.Phe221Ile) c.469T>A (p.Phe157Ile) | |
1 | g.209632745A>C | CA344594784 | LAMB3 | c.660T>G (p.Asn220Lys) c.468T>G (p.Asn156Lys) | |
1 | g.209632745A>G | CA423032691 | LAMB3 | c.660T>C (p.Asn220=) c.468T>C (p.Asn156=) | |
1 | g.209632745A>T | CA344594785 | LAMB3 | c.660T>A (p.Asn220Lys) c.468T>A (p.Asn156Lys) | |
1 | g.209632746T>A | CA344594786 | LAMB3 | c.659A>T (p.Asn220Ile) c.467A>T (p.Asn156Ile) | |
1 | g.209632746T>C | CA344594787 | LAMB3 | c.659A>G (p.Asn220Ser) c.467A>G (p.Asn156Ser) | gnomAD v4 |
1 | g.209632746T>G | CA344594788 | LAMB3 | c.659A>C (p.Asn220Thr) c.467A>C (p.Asn156Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632746T= | CA2484302019 | LAMB3 | c.659A= (p.Asn220=) c.467A= (p.Asn156=) | |
1 | g.209632747T>A | CA344594791 | LAMB3 | c.658A>T (p.Asn220Tyr) c.466A>T (p.Asn156Tyr) | |
1 | g.209632747T>C | CA344594790 | LAMB3 | c.658A>G (p.Asn220Asp) c.466A>G (p.Asn156Asp) | |
1 | g.209632747T>G | CA344594789 | LAMB3 | c.658A>C (p.Asn220His) c.466A>C (p.Asn156His) | |
1 | g.209632748G>A | CA423032692 | LAMB3 | c.657C>T (p.Val219=) c.465C>T (p.Val155=) | |
1 | g.209632748G>C | CA423032693 | LAMB3 | c.657C>G (p.Val219=) c.465C>G (p.Val155=) | |
1 | g.209632748G>T | CA423032694 | LAMB3 | c.657C>A (p.Val219=) c.465C>A (p.Val155=) | |
1 | g.209632749A>C | CA344594792 | LAMB3 | c.656T>G (p.Val219Gly) c.464T>G (p.Val155Gly) | |
1 | g.209632749A>G | CA344594793 | LAMB3 | c.656T>C (p.Val219Ala) c.464T>C (p.Val155Ala) | |
1 | g.209632749A>T | CA344594794 | LAMB3 | c.656T>A (p.Val219Asp) c.464T>A (p.Val155Asp) | |
1 | g.209632749_209632750delinsAC | CA2484302020 | LAMB3 | c.655_656delinsGT (p.Val219=) c.463_464delinsGT (p.Val155=) | |
1 | g.209632749_209632750delinsGA | CA2484302021 | LAMB3 | c.655_656delinsTC (p.Val219Ser) c.463_464delinsTC (p.Val155Ser) | ClinVar dbSNP |
1 | g.209632750C>A | CA344594795 | LAMB3 | c.655G>T (p.Val219Phe) c.463G>T (p.Val155Phe) | |
1 | g.209632750C= | CA2484302022 | LAMB3 | c.655G= (p.Val219=) c.463G= (p.Val155=) | |
1 | g.209632750C>G | CA344594796 | LAMB3 | c.655G>C (p.Val219Leu) c.463G>C (p.Val155Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632750C>T | CA344594797 | LAMB3 | c.655G>A (p.Val219Ile) c.463G>A (p.Val155Ile) | |
1 | g.209632751T>A | CA344594798 | LAMB3 | c.654A>T (p.Arg218Ser) c.462A>T (p.Arg154Ser) | |
1 | g.209632751T>C | CA423032695 | LAMB3 | c.654A>G (p.Arg218=) c.462A>G (p.Arg154=) | |
1 | g.209632751T>G | CA344594799 | LAMB3 | c.654A>C (p.Arg218Ser) c.462A>C (p.Arg154Ser) | |
1 | g.209632752C>A | CA344594800 | LAMB3 | c.653G>T (p.Arg218Ile) c.461G>T (p.Arg154Ile) | gnomAD v4 |
1 | g.209632752C= | CA2484302023 | LAMB3 | c.653G= (p.Arg218=) c.461G= (p.Arg154=) | |
1 | g.209632752C>G | CA1375878 | LAMB3 | c.653G>C (p.Arg218Thr) c.461G>C (p.Arg154Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632752C>T | CA1375879 | LAMB3 | c.653G>A (p.Arg218Lys) c.461G>A (p.Arg154Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632753T>A | CA344594801 | LAMB3 | c.652A>T (p.Arg218Ter) c.460A>T (p.Arg154Ter) | |
1 | g.209632753T>C | CA344594802 | LAMB3 | c.652A>G (p.Arg218Gly) c.460A>G (p.Arg154Gly) | |
1 | g.209632753T>G | CA423032696 | LAMB3 | c.652A>C (p.Arg218=) c.460A>C (p.Arg154=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632753T= | CA2484302024 | LAMB3 | c.652A= (p.Arg218=) c.460A= (p.Arg154=) | |
1 | g.209632754C>A | CA1375880 | LAMB3 | c.651G>T (p.Leu217Phe) c.459G>T (p.Leu153Phe) | dbSNP ExAC gnomAD v2 |
1 | g.209632754C= | CA1143663700 | LAMB3 | c.651G= (p.Leu217=) c.459G= (p.Leu153=) | |
1 | g.209632754C>G | CA344594803 | LAMB3 | c.651G>C (p.Leu217Phe) c.459G>C (p.Leu153Phe) | |
1 | g.209632754C>T | CA423032697 | LAMB3 | c.651G>A (p.Leu217=) c.459G>A (p.Leu153=) | gnomAD v4 |
1 | g.209632755A= | CA2484302025 | LAMB3 | c.650T= (p.Leu217=) c.458T= (p.Leu153=) | |
1 | g.209632755A>C | CA344594805 | LAMB3 | c.650T>G (p.Leu217Trp) c.458T>G (p.Leu153Trp) | gnomAD v4 |
1 | g.209632755A>G | CA1375881 | LAMB3 | c.650T>C (p.Leu217Ser) c.458T>C (p.Leu153Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632755A>T | CA344594804 | LAMB3 | c.650T>A (p.Leu217Ter) c.458T>A (p.Leu153Ter) | |
1 | g.209632756A= | CA2484302026 | LAMB3 | c.649T= (p.Leu217=) c.457T= (p.Leu153=) | |
1 | g.209632756A>C | CA344594806 | LAMB3 | c.649T>G (p.Leu217Val) c.457T>G (p.Leu153Val) | |
1 | g.209632756A>G | CA423032698 | LAMB3 | c.649T>C (p.Leu217=) c.457T>C (p.Leu153=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632756A>T | CA344594807 | LAMB3 | c.649T>A (p.Leu217Met) c.457T>A (p.Leu153Met) | |
1 | g.209632757G>A | CA423032699 | LAMB3 | c.648C>T (p.Asn216=) c.456C>T (p.Asn152=) | |
1 | g.209632757G>C | CA344594808 | LAMB3 | c.648C>G (p.Asn216Lys) c.456C>G (p.Asn152Lys) | |
1 | g.209632757G>T | CA344594809 | LAMB3 | c.648C>A (p.Asn216Lys) c.456C>A (p.Asn152Lys) | |
1 | g.209632758T>A | CA344594810 | LAMB3 | c.647A>T (p.Asn216Ile) c.455A>T (p.Asn152Ile) | |
1 | g.209632758T>C | CA344594811 | LAMB3 | c.647A>G (p.Asn216Ser) c.455A>G (p.Asn152Ser) | |
1 | g.209632758T>G | CA344594812 | LAMB3 | c.647A>C (p.Asn216Thr) c.455A>C (p.Asn152Thr) | |
1 | g.209632760del | CA2586967989 | LAMB3 | c.647del (p.Asn216ThrfsTer2) c.455del (p.Asn152ThrfsTer2) | |
1 | g.209632759T>A | CA344594813 | LAMB3 | c.646A>T (p.Asn216Tyr) c.454A>T (p.Asn152Tyr) | |
1 | g.209632759T>C | CA344594814 | LAMB3 | c.646A>G (p.Asn216Asp) c.454A>G (p.Asn152Asp) | gnomAD v4 |
1 | g.209632759T>G | CA344594815 | LAMB3 | c.646A>C (p.Asn216His) c.454A>C (p.Asn152His) | |
1 | g.209632760T>A | CA423032700 | LAMB3 | c.645A>T (p.Thr215=) c.453A>T (p.Thr151=) | |
1 | g.209632760T>C | CA423032702 | LAMB3 | c.645A>G (p.Thr215=) c.453A>G (p.Thr151=) | |
1 | g.209632760T>G | CA423032701 | LAMB3 | c.645A>C (p.Thr215=) c.453A>C (p.Thr151=) | |
1 | g.209632761G>A | CA344594816 | LAMB3 | c.644C>T (p.Thr215Ile) c.452C>T (p.Thr151Ile) | dbSNP gnomAD v4 |
1 | g.209632761G>C | CA344594817 | LAMB3 | c.644C>G (p.Thr215Arg) c.452C>G (p.Thr151Arg) | |
1 | g.209632761G= | CA2484302027 | LAMB3 | c.644C= (p.Thr215=) c.452C= (p.Thr151=) | |
1 | g.209632761G>T | CA344594818 | LAMB3 | c.644C>A (p.Thr215Lys) c.452C>A (p.Thr151Lys) | |
1 | g.209632761_209632762delinsGT | CA2484302028 | LAMB3 | c.643_644delinsAC (p.Thr215=) c.451_452delinsAC (p.Thr151=) |