UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629835_209629911dup | CA10602754 | LAMB3 | c.958_1034dup (p.Asn345LysfsTer?) c.766_842dup (p.Asn281LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629901T>A | CA344592877 | LAMB3 | c.968A>T (p.Glu323Val) c.776A>T (p.Glu259Val) | |
| 1 | g.209629901T>C | CA36758522 | LAMB3 | c.968A>G (p.Glu323Gly) c.776A>G (p.Glu259Gly) | dbSNP |
| 1 | g.209629901T>G | CA36758525 | LAMB3 | c.968A>C (p.Glu323Ala) c.776A>C (p.Glu259Ala) | dbSNP |
| 1 | g.209629901T= | CA1142748942 | LAMB3 | c.968A= (p.Glu323=) c.776A= (p.Glu259=) | |
| 1 | g.209629902C>A | CA344592884 | LAMB3 | c.967G>T (p.Glu323Ter) c.775G>T (p.Glu259Ter) | ClinVar |
| 1 | g.209629902C= | CA2484300871 | LAMB3 | c.967G= (p.Glu323=) c.775G= (p.Glu259=) | |
| 1 | g.209629902C>G | CA344592886 | LAMB3 | c.967G>C (p.Glu323Gln) c.775G>C (p.Glu259Gln) | |
| 1 | g.209629902C>T | CA344592890 | LAMB3 | c.967G>A (p.Glu323Lys) c.775G>A (p.Glu259Lys) | dbSNP |
| 1 | g.209629903T>A | CA423032360 | LAMB3 | c.966A>T (p.Ser322=) c.774A>T (p.Ser258=) | |
| 1 | g.209629903T>C | CA423032361 | LAMB3 | c.966A>G (p.Ser322=) c.774A>G (p.Ser258=) | |
| 1 | g.209629903T>G | CA423032362 | LAMB3 | c.966A>C (p.Ser322=) c.774A>C (p.Ser258=) | |
| 1 | g.209629904G>A | CA344592895 | LAMB3 | c.965C>T (p.Ser322Leu) c.773C>T (p.Ser258Leu) | |
| 1 | g.209629904G>C | CA344592897 | LAMB3 | c.965C>G (p.Ser322Ter) c.773C>G (p.Ser258Ter) | |
| 1 | g.209629904G>T | CA344592899 | LAMB3 | c.965C>A (p.Ser322Ter) c.773C>A (p.Ser258Ter) | |
| 1 | g.209629905A>C | CA344592902 | LAMB3 | c.964T>G (p.Ser322Ala) c.772T>G (p.Ser258Ala) | |
| 1 | g.209629905A>G | CA344592905 | LAMB3 | c.964T>C (p.Ser322Pro) c.772T>C (p.Ser258Pro) | |
| 1 | g.209629905A>T | CA344592908 | LAMB3 | c.964T>A (p.Ser322Thr) c.772T>A (p.Ser258Thr) | |
| 1 | g.209629906G>A | CA423032364 | LAMB3 | c.963C>T (p.His321=) c.771C>T (p.His257=) | |
| 1 | g.209629906G>C | CA1375731 | LAMB3 | c.963C>G (p.His321Gln) c.771C>G (p.His257Gln) | dbSNP ExAC gnomAD v2 |
| 1 | g.209629906G= | CA1143775630 | LAMB3 | c.963C= (p.His321=) c.771C= (p.His257=) | |
| 1 | g.209629906G>T | CA344592911 | LAMB3 | c.963C>A (p.His321Gln) c.771C>A (p.His257Gln) | |
| 1 | g.209629907T>A | CA344592917 | LAMB3 | c.962A>T (p.His321Leu) c.770A>T (p.His257Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629907T>C | CA344592919 | LAMB3 | c.962A>G (p.His321Arg) c.770A>G (p.His257Arg) | |
| 1 | g.209629907T>G | CA344592922 | LAMB3 | c.962A>C (p.His321Pro) c.770A>C (p.His257Pro) | |
| 1 | g.209629907T= | CA2484300872 | LAMB3 | c.962A= (p.His321=) c.770A= (p.His257=) | |
| 1 | g.209629908G>A | CA344592926 | LAMB3 | c.961C>T (p.His321Tyr) c.769C>T (p.His257Tyr) | |
| 1 | g.209629908G>C | CA344592928 | LAMB3 | c.961C>G (p.His321Asp) c.769C>G (p.His257Asp) | |
| 1 | g.209629908G>T | CA344592930 | LAMB3 | c.961C>A (p.His321Asn) c.769C>A (p.His257Asn) | |
| 1 | g.209629909C>A | CA423032365 | LAMB3 | c.960G>T (p.Gly320=) c.768G>T (p.Gly256=) | |
| 1 | g.209629909C= | CA2484300873 | LAMB3 | c.960G= (p.Gly320=) c.768G= (p.Gly256=) | |
| 1 | g.209629909C>G | CA423032366 | LAMB3 | c.960G>C (p.Gly320=) c.768G>C (p.Gly256=) | |
| 1 | g.209629909C>T | CA423032367 | LAMB3 | c.960G>A (p.Gly320=) c.768G>A (p.Gly256=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209629910C>A | CA344592936 | LAMB3 | c.959G>T (p.Gly320Val) c.767G>T (p.Gly256Val) | |
| 1 | g.209629910C= | CA2484300874 | LAMB3 | c.959G= (p.Gly320=) c.767G= (p.Gly256=) | |
| 1 | g.209629910C>G | CA344592939 | LAMB3 | c.959G>C (p.Gly320Ala) c.767G>C (p.Gly256Ala) | |
| 1 | g.209629910C>T | CA36758529 | LAMB3 | c.959G>A (p.Gly320Glu) c.767G>A (p.Gly256Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629911_209629912insTTGTCACACACACCTCC | CA1375732 | LAMB3 | c.959_960insAGGTGTGTGTGACAAGG (p.His321GlyfsTer?) c.767_768insAGGTGTGTGTGACAAGG (p.His257GlyfsTer?) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209629911C>A | CA344592944 | LAMB3 | c.958G>T (p.Gly320Trp) c.766G>T (p.Gly256Trp) | |
| 1 | g.209629911C= | CA2484300875 | LAMB3 | c.958G= (p.Gly320=) c.766G= (p.Gly256=) | |
| 1 | g.209629911C>G | CA344592947 | LAMB3 | c.958G>C (p.Gly320Arg) c.766G>C (p.Gly256Arg) | |
| 1 | g.209629911C>T | CA36758534 | LAMB3 | c.958G>A (p.Gly320Arg) c.766G>A (p.Gly256Arg) | dbSNP gnomAD v4 COSMIC |
| 1 | g.209629911_209629912delinsCA | CA2484300876 | LAMB3 | c.957_958delinsTG (p.Asn319=) c.765_766delinsTG (p.Asn255=) | |
| 1 | g.209629911_209629912insTTGTCACACACACCTCCAT | CA2650323493 | LAMB3 | c.957_958insATGGAGGTGTGTGTGACAA (p.Gly320MetfsTer15) c.765_766insATGGAGGTGTGTGTGACAA (p.Gly256MetfsTer15) | gnomAD v4 |
| 1 | g.209629912del | CA1375733 | LAMB3 | c.957del (p.Asn319LysfsTer?) c.765del (p.Asn255LysfsTer?) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209629912A>C | CA344592951 | LAMB3 | c.957T>G (p.Asn319Lys) c.765T>G (p.Asn255Lys) | |
| 1 | g.209629912A>G | CA423032368 | LAMB3 | c.957T>C (p.Asn319=) c.765T>C (p.Asn255=) | dbSNP |
| 1 | g.209629912A>T | CA344592954 | LAMB3 | c.957T>A (p.Asn319Lys) c.765T>A (p.Asn255Lys) | |
| 1 | g.209629913T>A | CA344592957 | LAMB3 | c.956A>T (p.Asn319Ile) c.764A>T (p.Asn255Ile) | |
| 1 | g.209629913T>C | CA1375735 | LAMB3 | c.956A>G (p.Asn319Ser) c.764A>G (p.Asn255Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629913T>G | CA344592962 | LAMB3 | c.956A>C (p.Asn319Thr) c.764A>C (p.Asn255Thr) | |
| 1 | g.209629913T= | CA2484300877 | LAMB3 | c.956A= (p.Asn319=) c.764A= (p.Asn255=) | |
| 1 | g.209629913_209629914insA | CA1375734 | LAMB3 | c.955_956insT (p.Asn319IlefsTer10) c.763_764insT (p.Asn255IlefsTer10) | dbSNP ExAC |
| 1 | g.209629914T>A | CA344592967 | LAMB3 | c.955A>T (p.Asn319Tyr) c.763A>T (p.Asn255Tyr) | |
| 1 | g.209629914T>C | CA344592970 | LAMB3 | c.955A>G (p.Asn319Asp) c.763A>G (p.Asn255Asp) | gnomAD v4 |
| 1 | g.209629914T>G | CA344592972 | LAMB3 | c.955A>C (p.Asn319His) c.763A>C (p.Asn255His) | |
| 1 | g.209629915G>A | CA1375736 | LAMB3 | c.954C>T (p.Cys318=) c.762C>T (p.Cys254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629915G>C | CA344592977 | LAMB3 | c.954C>G (p.Cys318Trp) c.762C>G (p.Cys254Trp) | |
| 1 | g.209629915G= | CA2484300878 | LAMB3 | c.954C= (p.Cys318=) c.762C= (p.Cys254=) | |
| 1 | g.209629915G>T | CA344592979 | LAMB3 | c.954C>A (p.Cys318Ter) c.762C>A (p.Cys254Ter) | |
| 1 | g.209629916_209629918del | CA2650323499 | LAMB3 | c.952_954del (p.Cys318del) c.760_762del (p.Cys254del) | gnomAD v4 |
| 1 | g.209629915_209629916insTCA | CA1375737 | LAMB3 | c.953_954insTGA (p.Cys318_Asn319insAsp) c.761_762insTGA (p.Cys254_Asn255insAsp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209629916C>A | CA344592987 | LAMB3 | c.953G>T (p.Cys318Phe) c.761G>T (p.Cys254Phe) | |
| 1 | g.209629916C= | CA2484300880 | LAMB3 | c.953G= (p.Cys318=) c.761G= (p.Cys254=) | |
| 1 | g.209629916C>G | CA344592986 | LAMB3 | c.953G>C (p.Cys318Ser) c.761G>C (p.Cys254Ser) | dbSNP |
| 1 | g.209629916C>T | CA344592984 | LAMB3 | c.953G>A (p.Cys318Tyr) c.761G>A (p.Cys254Tyr) | |
| 1 | g.209629916_209629917delinsCA | CA2484300879 | LAMB3 | c.952_953delinsTG (p.Cys318=) c.760_761delinsTG (p.Cys254=) | |
| 1 | g.209629917del | CA1375738 | LAMB3 | c.952del (p.Cys318AlafsTer?) c.760del (p.Cys254AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629917A= | CA2484300881 | LAMB3 | c.952T= (p.Cys318=) c.760T= (p.Cys254=) | |
| 1 | g.209629917A>C | CA344592991 | LAMB3 | c.952T>G (p.Cys318Gly) c.760T>G (p.Cys254Gly) | |
| 1 | g.209629917A>G | CA344592994 | LAMB3 | c.952T>C (p.Cys318Arg) c.760T>C (p.Cys254Arg) | |
| 1 | g.209629917A>T | CA344592997 | LAMB3 | c.952T>A (p.Cys318Ser) c.760T>A (p.Cys254Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629917_209629919delinsAGT | CA2484300882 | LAMB3 | c.950_952delinsACT (p.Asp317=) c.758_760delinsACT (p.Asp253=) | |
| 1 | g.209629918G>A | CA423032370 | LAMB3 | c.951C>T (p.Asp317=) c.759C>T (p.Asp253=) | |
| 1 | g.209629918G>C | CA344593003 | LAMB3 | c.951C>G (p.Asp317Glu) c.759C>G (p.Asp253Glu) | |
| 1 | g.209629918G>T | CA344593005 | LAMB3 | c.951C>A (p.Asp317Glu) c.759C>A (p.Asp253Glu) | |
| 1 | g.209629918_209629919del | CA1375739 | LAMB3 | c.950_951del (p.Asp317ValfsTer11) c.758_759del (p.Asp253ValfsTer11) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209629918_209629919delinsGT | CA1148409703 | LAMB3 | c.950_951delinsAC (p.Asp317=) c.758_759delinsAC (p.Asp253=) | |
| 1 | g.209629919T>A | CA344593011 | LAMB3 | c.950A>T (p.Asp317Val) c.758A>T (p.Asp253Val) | |
| 1 | g.209629919T>C | CA344593013 | LAMB3 | c.950A>G (p.Asp317Gly) c.758A>G (p.Asp253Gly) | |
| 1 | g.209629919T>G | CA344593015 | LAMB3 | c.950A>C (p.Asp317Ala) c.758A>C (p.Asp253Ala) | |
| 1 | g.209629920C>A | CA344593020 | LAMB3 | c.949G>T (p.Asp317Tyr) c.757G>T (p.Asp253Tyr) | gnomAD v4 |
| 1 | g.209629920C= | CA2484300883 | LAMB3 | c.949G= (p.Asp317=) c.757G= (p.Asp253=) | |
| 1 | g.209629920C>G | CA344593022 | LAMB3 | c.949G>C (p.Asp317His) c.757G>C (p.Asp253His) | |
| 1 | g.209629920C>T | CA36758554 | LAMB3 | c.949G>A (p.Asp317Asn) c.757G>A (p.Asp253Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629921G>A | CA1375740 | LAMB3 | c.948C>T (p.Cys316=) c.756C>T (p.Cys252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629921G>C | CA344593032 | LAMB3 | c.948C>G (p.Cys316Trp) c.756C>G (p.Cys252Trp) | |
| 1 | g.209629921G= | CA2484300884 | LAMB3 | c.948C= (p.Cys316=) c.756C= (p.Cys252=) | |
| 1 | g.209629921G>T | CA344593028 | LAMB3 | c.948C>A (p.Cys316Ter) c.756C>A (p.Cys252Ter) | ClinVar dbSNP |
| 1 | g.209629922C>A | CA344593038 | LAMB3 | c.947G>T (p.Cys316Phe) c.755G>T (p.Cys252Phe) | |
| 1 | g.209629922C= | CA2484300885 | LAMB3 | c.947G= (p.Cys316=) c.755G= (p.Cys252=) | |
| 1 | g.209629922C>G | CA344593035 | LAMB3 | c.947G>C (p.Cys316Ser) c.755G>C (p.Cys252Ser) | |
| 1 | g.209629922C>T | CA344593040 | LAMB3 | c.947G>A (p.Cys316Tyr) c.755G>A (p.Cys252Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209629923A>C | CA344593041 | LAMB3 | c.946T>G (p.Cys316Gly) c.754T>G (p.Cys252Gly) | |
| 1 | g.209629923A>G | CA344593044 | LAMB3 | c.946T>C (p.Cys316Arg) c.754T>C (p.Cys252Arg) | |
| 1 | g.209629923A>T | CA344593043 | LAMB3 | c.946T>A (p.Cys316Ser) c.754T>A (p.Cys252Ser) | |
| 1 | g.209629924C>A | CA344593046 | LAMB3 | c.945G>T (p.Arg315Ser) c.753G>T (p.Arg251Ser) | |
| 1 | g.209629924C>G | CA344593048 | LAMB3 | c.945G>C (p.Arg315Ser) c.753G>C (p.Arg251Ser) | |
| 1 | g.209629924C>T | CA423032371 | LAMB3 | c.945G>A (p.Arg315=) c.753G>A (p.Arg251=) | ClinVar |
| 1 | g.209629925C>A | CA344593052 | LAMB3 | c.944G>T (p.Arg315Met) c.752G>T (p.Arg251Met) | |
| 1 | g.209629925C= | CA2484300886 | LAMB3 | c.944G= (p.Arg315=) c.752G= (p.Arg251=) | |
| 1 | g.209629925C>G | CA344593054 | LAMB3 | c.944G>C (p.Arg315Thr) c.752G>C (p.Arg251Thr) | |
| 1 | g.209629925C>T | CA344593056 | LAMB3 | c.944G>A (p.Arg315Lys) c.752G>A (p.Arg251Lys) | |
| 1 | g.209629925_209629926insTCCATATGCCCCCTGG | CA1375741 | LAMB3 | c.944-1_944insCCAGGGGGCATATGGA (n.944-1_944insCCAGGGGGCATATGGA) c.752-1_752insCCAGGGGGCATATGGA (n.752-1_752insCCAGGGGGCATATGGA) | dbSNP ExAC |
| 1 | g.209629926C>A | CA344593061 | LAMB3 | c.944-1G>T (n.944-1G>T) c.752-1G>T (n.752-1G>T) | |
| 1 | g.209629926C>G | CA344593063 | LAMB3 | c.944-1G>C (n.944-1G>C) c.752-1G>C (n.752-1G>C) | |
| 1 | g.209629926C>T | CA344593066 | LAMB3 | c.944-1G>A (n.944-1G>A) c.752-1G>A (n.752-1G>A) | |
| 1 | g.209629927T>A | CA344593069 | LAMB3 | c.944-2A>T (n.944-2A>T) c.752-2A>T (n.752-2A>T) | |
| 1 | g.209629927T>C | CA1375742 | LAMB3 | c.944-2A>G (n.944-2A>G) c.752-2A>G (n.752-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629927T>G | CA344593073 | LAMB3 | c.944-2A>C (n.944-2A>C) c.752-2A>C (n.752-2A>C) | |
| 1 | g.209629927T= | CA1149106381 | LAMB3 | c.944-2A= (n.944-2A=) c.752-2A= (n.752-2A=) | |
| 1 | g.209629928G>A | CA1375743 | LAMB3 | c.944-3C>T (n.944-3C>T) c.752-3C>T (n.752-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629928G= | CA2484300887 | LAMB3 | c.944-3C= (n.944-3C=) c.752-3C= (n.752-3C=) | |
| 1 | g.209629929G>A | CA1375744 | LAMB3 | c.944-4C>T (n.944-4C>T) c.752-4C>T (n.752-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209629929G= | CA2484300888 | LAMB3 | c.944-4C= (n.944-4C=) c.752-4C= (n.752-4C=) | |
| 1 | g.209629929G>T | CA2536799233 | LAMB3 | c.944-4C>A (n.944-4C>A) c.752-4C>A (n.752-4C>A) | |
| 1 | g.209629933A= | CA1148572119 | LAMB3 | c.944-8T= (n.944-8T=) c.752-8T= (n.752-8T=) | |
| 1 | g.209629933A>G | CA1375745 | LAMB3 | c.944-8T>C (n.944-8T>C) c.752-8T>C (n.752-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629933_209629935delinsAAG | CA2484300889 | LAMB3 | c.944-10_944-8delinsCTT (n.944-10_944-8delinsCTT) c.752-10_752-8delinsCTT (n.752-10_752-8delinsCTT) | |
| 1 | g.209629938_209629939del | CA916393719 | LAMB3 | c.944-10_944-9del (n.944-10_944-9del) c.752-10_752-9del (n.752-10_752-9del) | dbSNP gnomAD v4 |
| 1 | g.209629936A>G | CA2574003405 | LAMB3 | c.944-11T>C (n.944-11T>C) c.752-11T>C (n.752-11T>C) | gnomAD v4 |
| 1 | g.209629939G>A | CA2650323523 | LAMB3 | c.944-14C>T (n.944-14C>T) c.752-14C>T (n.752-14C>T) | gnomAD v4 |
| 1 | g.209629939G>C | CA529000298 | LAMB3 | c.944-14C>G (n.944-14C>G) c.752-14C>G (n.752-14C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629939G= | CA2484300890 | LAMB3 | c.944-14C= (n.944-14C=) c.752-14C= (n.752-14C=) | |
| 1 | g.209629940T>A | CA529000299 | LAMB3 | c.944-15A>T (n.944-15A>T) c.752-15A>T (n.752-15A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629940T>C | CA2650323525 | LAMB3 | c.944-15A>G (n.944-15A>G) c.752-15A>G (n.752-15A>G) | gnomAD v4 |
| 1 | g.209629940T= | CA2484300891 | LAMB3 | c.944-15A= (n.944-15A=) c.752-15A= (n.752-15A=) | |
| 1 | g.209629941C>T | CA2650323527 | LAMB3 | c.944-16G>A (n.944-16G>A) c.752-16G>A (n.752-16G>A) | gnomAD v4 |
| 1 | g.209629942C= | CA2484300892 | LAMB3 | c.944-17G= (n.944-17G=) c.752-17G= (n.752-17G=) | |
| 1 | g.209629942C>T | CA2484300893 | LAMB3 | c.944-17G>A (n.944-17G>A) c.752-17G>A (n.752-17G>A) | dbSNP gnomAD v4 |
| 1 | g.209629943C>A | CA2574003418 | LAMB3 | c.944-18G>T (n.944-18G>T) c.752-18G>T (n.752-18G>T) | |
| 1 | g.209629943C>T | CA2574003419 | LAMB3 | c.944-18G>A (n.944-18G>A) c.752-18G>A (n.752-18G>A) | gnomAD v4 |
| 1 | g.209629944A>G | CA2650323529 | LAMB3 | c.944-19T>C (n.944-19T>C) c.752-19T>C (n.752-19T>C) | gnomAD v4 |
| 1 | g.209629945G>A | CA2650323531 | LAMB3 | c.944-20C>T (n.944-20C>T) c.752-20C>T (n.752-20C>T) | gnomAD v4 |
| 1 | g.209629950G>A | CA1375746 | LAMB3 | c.944-25C>T (n.944-25C>T) c.752-25C>T (n.752-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629950G= | CA2484300894 | LAMB3 | c.944-25C= (n.944-25C=) c.752-25C= (n.752-25C=) | |
| 1 | g.209629952C= | CA2484300895 | LAMB3 | c.944-27G= (n.944-27G=) c.752-27G= (n.752-27G=) | |
| 1 | g.209629952C>T | CA730833435 | LAMB3 | c.944-27G>A (n.944-27G>A) c.752-27G>A (n.752-27G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629953A= | CA2484300896 | LAMB3 | c.944-28T= (n.944-28T=) c.752-28T= (n.752-28T=) | |
| 1 | g.209629953A>G | CA529000277 | LAMB3 | c.944-28T>C (n.944-28T>C) c.752-28T>C (n.752-28T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629954T>A | CA2747563226 | LAMB3 | c.944-29A>T (n.944-29A>T) c.752-29A>T (n.752-29A>T) | |
| 1 | g.209629954T>C | CA1011768258 | LAMB3 | c.944-29A>G (n.944-29A>G) c.752-29A>G (n.752-29A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629954T= | CA2484300897 | LAMB3 | c.944-29A= (n.944-29A=) c.752-29A= (n.752-29A=) | |
| 1 | g.209629955C>T | CA2650323532 | LAMB3 | c.944-30G>A (n.944-30G>A) c.752-30G>A (n.752-30G>A) | gnomAD v4 |
| 1 | g.209629956T>C | CA1375747 | LAMB3 | c.944-31A>G (n.944-31A>G) c.752-31A>G (n.752-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629956T= | CA2484300898 | LAMB3 | c.944-31A= (n.944-31A=) c.752-31A= (n.752-31A=) | |
| 1 | g.209629957G>A | CA2747563227 | LAMB3 | c.944-32C>T (n.944-32C>T) c.752-32C>T (n.752-32C>T) | |
| 1 | g.209629957G>T | CA2650323533 | LAMB3 | c.944-32C>A (n.944-32C>A) c.752-32C>A (n.752-32C>A) | gnomAD v4 |
| 1 | g.209629959C= | CA2484300899 | LAMB3 | c.944-34G= (n.944-34G=) c.752-34G= (n.752-34G=) | |
| 1 | g.209629959C>T | CA529000278 | LAMB3 | c.944-34G>A (n.944-34G>A) c.752-34G>A (n.752-34G>A) | dbSNP gnomAD v2 |
| 1 | g.209629961del | CA2650323534 | LAMB3 | c.944-34del (n.944-34del) c.752-34del (n.752-34del) | gnomAD v4 |
| 1 | g.209629960C>A | CA1375748 | LAMB3 | c.944-35G>T (n.944-35G>T) c.752-35G>T (n.752-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629960C= | CA1148276374 | LAMB3 | c.944-35G= (n.944-35G=) c.752-35G= (n.752-35G=) | |
| 1 | g.209629961C= | CA2484300900 | LAMB3 | c.944-36G= (n.944-36G=) c.752-36G= (n.752-36G=) | |
| 1 | g.209629961C>T | CA2484300901 | LAMB3 | c.944-36G>A (n.944-36G>A) c.752-36G>A (n.752-36G>A) | dbSNP gnomAD v4 |
| 1 | g.209629964_209629965insAACCAAACACACCCAACACA | CA2747563228 | LAMB3 | c.944-36_944-35insTTGGGTGTGTTTGGTTTGTG (n.944-36_944-35insTTGGGTGTGTTTGGTTTGTG) c.752-36_752-35insTTGGGTGTGTTTGGTTTGTG (n.752-36_752-35insTTGGGTGTGTTTGGTTTGTG) | |
| 1 | g.209629962A= | CA2484300902 | LAMB3 | c.944-37T= (n.944-37T=) c.752-37T= (n.752-37T=) | |
| 1 | g.209629962A>C | CA1375749 | LAMB3 | c.944-37T>G (n.944-37T>G) c.752-37T>G (n.752-37T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629963C>A | CA2650323546 | LAMB3 | c.944-38G>T (n.944-38G>T) c.752-38G>T (n.752-38G>T) | gnomAD v4 |
| 1 | g.209629963C>T | CA2650323547 | LAMB3 | c.944-38G>A (n.944-38G>A) c.752-38G>A (n.752-38G>A) | gnomAD v4 |
| 1 | g.209629966C>A | CA529000279 | LAMB3 | c.944-41G>T (n.944-41G>T) c.752-41G>T (n.752-41G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629966C= | CA2484300903 | LAMB3 | c.944-41G= (n.944-41G=) c.752-41G= (n.752-41G=) | |
| 1 | g.209629966C>G | CA2650323548 | LAMB3 | c.944-41G>C (n.944-41G>C) c.752-41G>C (n.752-41G>C) | gnomAD v4 |
| 1 | g.209629966C>T | CA36758576 | LAMB3 | c.944-41G>A (n.944-41G>A) c.752-41G>A (n.752-41G>A) | dbSNP |
| 1 | g.209629970G>C | CA2574003507 | LAMB3 | c.944-45C>G (n.944-45C>G) c.752-45C>G (n.752-45C>G) | |
| 1 | g.209629970G>T | CA2650323549 | LAMB3 | c.944-45C>A (n.944-45C>A) c.752-45C>A (n.752-45C>A) | gnomAD v4 |
| 1 | g.209629971C>A | CA1375750 | LAMB3 | c.944-46G>T (n.944-46G>T) c.752-46G>T (n.752-46G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629971C= | CA1144001718 | LAMB3 | c.944-46G= (n.944-46G=) c.752-46G= (n.752-46G=) | |
| 1 | g.209629971C>G | CA2650323551 | LAMB3 | c.944-46G>C (n.944-46G>C) c.752-46G>C (n.752-46G>C) | gnomAD v4 |
| 1 | g.209629971C>T | CA2650323552 | LAMB3 | c.944-46G>A (n.944-46G>A) c.752-46G>A (n.752-46G>A) | gnomAD v4 |
| 1 | g.209629972T>C | CA2650323553 | LAMB3 | c.944-47A>G (n.944-47A>G) c.752-47A>G (n.752-47A>G) | gnomAD v4 |
| 1 | g.209629973A= | CA2484300904 | LAMB3 | c.944-48T= (n.944-48T=) c.752-48T= (n.752-48T=) | |
| 1 | g.209629973A>G | CA1011768261 | LAMB3 | c.944-48T>C (n.944-48T>C) c.752-48T>C (n.752-48T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629974T>C | CA2650323554 | LAMB3 | c.944-49A>G (n.944-49A>G) c.752-49A>G (n.752-49A>G) | gnomAD v4 |
| 1 | g.209629976T>G | CA2484300906 | LAMB3 | c.944-51A>C (n.944-51A>C) c.752-51A>C (n.752-51A>C) | dbSNP |
| 1 | g.209629976T= | CA2484300905 | LAMB3 | c.944-51A= (n.944-51A=) c.752-51A= (n.752-51A=) | |
| 1 | g.209629977A= | CA2484300907 | LAMB3 | c.944-52T= (n.944-52T=) c.752-52T= (n.752-52T=) | |
| 1 | g.209629977A>G | CA529000280 | LAMB3 | c.944-52T>C (n.944-52T>C) c.752-52T>C (n.752-52T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629978C= | CA2484300908 | LAMB3 | c.944-53G= (n.944-53G=) c.752-53G= (n.752-53G=) | |
| 1 | g.209629978C>G | CA2650323555 | LAMB3 | c.944-53G>C (n.944-53G>C) c.752-53G>C (n.752-53G>C) | gnomAD v4 |
| 1 | g.209629978C>T | CA529000281 | LAMB3 | c.944-53G>A (n.944-53G>A) c.752-53G>A (n.752-53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629982G>T | CA2650323557 | LAMB3 | c.944-57C>A (n.944-57C>A) c.752-57C>A (n.752-57C>A) | gnomAD v4 |
| 1 | g.209629983C>A | CA2650323558 | LAMB3 | c.944-58G>T (n.944-58G>T) c.752-58G>T (n.752-58G>T) | gnomAD v4 |
| 1 | g.209629983C>T | CA2574003520 | LAMB3 | c.944-58G>A (n.944-58G>A) c.752-58G>A (n.752-58G>A) | |
| 1 | g.209629984A= | CA2484300909 | LAMB3 | c.944-59T= (n.944-59T=) c.752-59T= (n.752-59T=) | |
| 1 | g.209629984A>G | CA1011768262 | LAMB3 | c.944-59T>C (n.944-59T>C) c.752-59T>C (n.752-59T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629985T>C | CA2650323559 | LAMB3 | c.944-60A>G (n.944-60A>G) c.752-60A>G (n.752-60A>G) | gnomAD v4 |
| 1 | g.209629985T>G | CA730833457 | LAMB3 | c.944-60A>C (n.944-60A>C) c.752-60A>C (n.752-60A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629985T= | CA2484300910 | LAMB3 | c.944-60A= (n.944-60A=) c.752-60A= (n.752-60A=) | |
| 1 | g.209629986G>A | CA2574003525 | LAMB3 | c.944-61C>T (n.944-61C>T) c.752-61C>T (n.752-61C>T) | |
| 1 | g.209629986G= | CA2484300911 | LAMB3 | c.944-61C= (n.944-61C=) c.752-61C= (n.752-61C=) | |
| 1 | g.209629986G>T | CA2484300912 | LAMB3 | c.944-61C>A (n.944-61C>A) c.752-61C>A (n.752-61C>A) | dbSNP |
| 1 | g.209629987C= | CA2484300913 | LAMB3 | c.944-62G= (n.944-62G=) c.752-62G= (n.752-62G=) | |
| 1 | g.209629987C>G | CA2650323560 | LAMB3 | c.944-62G>C (n.944-62G>C) c.752-62G>C (n.752-62G>C) | gnomAD v4 |
| 1 | g.209629987C>T | CA1011768264 | LAMB3 | c.944-62G>A (n.944-62G>A) c.752-62G>A (n.752-62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629988T>C | CA36758580 | LAMB3 | c.944-63A>G (n.944-63A>G) c.752-63A>G (n.752-63A>G) | dbSNP gnomAD v4 |
| 1 | g.209629988T>G | CA2650323561 | LAMB3 | c.944-63A>C (n.944-63A>C) c.752-63A>C (n.752-63A>C) | gnomAD v4 |
| 1 | g.209629988T= | CA2484300914 | LAMB3 | c.944-63A= (n.944-63A=) c.752-63A= (n.752-63A=) | |
| 1 | g.209629989C>T | CA2650323562 | LAMB3 | c.944-64G>A (n.944-64G>A) c.752-64G>A (n.752-64G>A) | gnomAD v4 |
| 1 | g.209629990C>A | CA2650323563 | LAMB3 | c.944-65G>T (n.944-65G>T) c.752-65G>T (n.752-65G>T) | gnomAD v4 |
| 1 | g.209629991A>G | CA2650323564 | LAMB3 | c.944-66T>C (n.944-66T>C) c.752-66T>C (n.752-66T>C) | gnomAD v4 |
| 1 | g.209629993A= | CA2484300915 | LAMB3 | c.944-68T= (n.944-68T=) c.752-68T= (n.752-68T=) | |
| 1 | g.209629993A>G | CA36758584 | LAMB3 | c.944-68T>C (n.944-68T>C) c.752-68T>C (n.752-68T>C) | dbSNP gnomAD v4 |
| 1 | g.209629995A>C | CA2650323566 | LAMB3 | c.944-70T>G (n.944-70T>G) c.752-70T>G (n.752-70T>G) | gnomAD v4 |
| 1 | g.209629996_209629997insCCCCCCAAACACACCCA | CA2747563229 | LAMB3 | c.944-71_944-70insGGGTGTGTTTGGGGGGT (n.944-71_944-70insGGGTGTGTTTGGGGGGT) c.752-71_752-70insGGGTGTGTTTGGGGGGT (n.752-71_752-70insGGGTGTGTTTGGGGGGT) | |
| 1 | g.209629997G>A | CA2747563230 | LAMB3 | c.944-72C>T (n.944-72C>T) c.752-72C>T (n.752-72C>T) | |
| 1 | g.209629998C>A | CA2650323568 | LAMB3 | c.944-73G>T (n.944-73G>T) c.752-73G>T (n.752-73G>T) | gnomAD v4 |
| 1 | g.209629998C>T | CA2650323569 | LAMB3 | c.944-73G>A (n.944-73G>A) c.752-73G>A (n.752-73G>A) | gnomAD v4 |
| 1 | g.209629999T>A | CA2747563231 | LAMB3 | c.944-74A>T (n.944-74A>T) c.752-74A>T (n.752-74A>T) | |
| 1 | g.209630001A>C | CA2650323571 | LAMB3 | c.944-76T>G (n.944-76T>G) c.752-76T>G (n.752-76T>G) | gnomAD v4 |