OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209633081del | CA1375900 | LAMB3 | c.622del (p.Ile208PhefsTer10) c.430del (p.Ile144PhefsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633079T>A | CA344594883 | LAMB3 | c.619A>T (p.Lys207Ter) c.427A>T (p.Lys143Ter) | |
| 1 | g.209633079T>C | CA344594884 | LAMB3 | c.619A>G (p.Lys207Glu) c.427A>G (p.Lys143Glu) | |
| 1 | g.209633079T>G | CA257287 | LAMB3 | c.619A>C (p.Lys207Gln) c.427A>C (p.Lys143Gln) | ClinVar dbSNP |
| 1 | g.209633079T= | CA1141581387 | LAMB3 | c.619A= (p.Lys207=) c.427A= (p.Lys143=) | |
| 1 | g.209633080T>A | CA344594885 | LAMB3 | c.618A>T (p.Gln206His) c.426A>T (p.Gln142His) | |
| 1 | g.209633080T>C | CA423032722 | LAMB3 | c.618A>G (p.Gln206=) c.426A>G (p.Gln142=) | |
| 1 | g.209633080T>G | CA344594886 | LAMB3 | c.618A>C (p.Gln206His) c.426A>C (p.Gln142His) | |
| 1 | g.209633081T>A | CA344594887 | LAMB3 | c.617A>T (p.Gln206Leu) c.425A>T (p.Gln142Leu) | |
| 1 | g.209633081T>C | CA344594888 | LAMB3 | c.617A>G (p.Gln206Arg) c.425A>G (p.Gln142Arg) | |
| 1 | g.209633081T>G | CA344594889 | LAMB3 | c.617A>C (p.Gln206Pro) c.425A>C (p.Gln142Pro) | |
| 1 | g.209633082G>A | CA1375901 | LAMB3 | c.616C>T (p.Gln206Ter) c.424C>T (p.Gln142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633082G>C | CA344594890 | LAMB3 | c.616C>G (p.Gln206Glu) c.424C>G (p.Gln142Glu) | |
| 1 | g.209633082G= | CA2484302154 | LAMB3 | c.616C= (p.Gln206=) c.424C= (p.Gln142=) | |
| 1 | g.209633082G>T | CA36759899 | LAMB3 | c.616C>A (p.Gln206Lys) c.424C>A (p.Gln142Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633083A>C | CA344594891 | LAMB3 | c.615T>G (p.Ser205Arg) c.423T>G (p.Ser141Arg) | |
| 1 | g.209633083A>G | CA423032723 | LAMB3 | c.615T>C (p.Ser205=) c.423T>C (p.Ser141=) | |
| 1 | g.209633083A>T | CA344594892 | LAMB3 | c.615T>A (p.Ser205Arg) c.423T>A (p.Ser141Arg) | |
| 1 | g.209633084C>A | CA344594893 | LAMB3 | c.614G>T (p.Ser205Ile) c.422G>T (p.Ser141Ile) | |
| 1 | g.209633084C= | CA1148879133 | LAMB3 | c.614G= (p.Ser205=) c.422G= (p.Ser141=) | |
| 1 | g.209633084C>G | CA1375902 | LAMB3 | c.614G>C (p.Ser205Thr) c.422G>C (p.Ser141Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633084C>T | CA344594894 | LAMB3 | c.614G>A (p.Ser205Asn) c.422G>A (p.Ser141Asn) | |
| 1 | g.209633085T>A | CA344594895 | LAMB3 | c.613A>T (p.Ser205Cys) c.421A>T (p.Ser141Cys) | |
| 1 | g.209633085T>C | CA344594896 | LAMB3 | c.613A>G (p.Ser205Gly) c.421A>G (p.Ser141Gly) | gnomAD v4 |
| 1 | g.209633085T>G | CA344594897 | LAMB3 | c.613A>C (p.Ser205Arg) c.421A>C (p.Ser141Arg) | |
| 1 | g.209633087dup | CA2739275562 | LAMB3 | c.613dup (p.Ser205LysfsTer?) c.421dup (p.Ser141LysfsTer?) | ClinVar |
| 1 | g.209633086T>A | CA344594898 | LAMB3 | c.612A>T (p.Gln204His) c.420A>T (p.Gln140His) | gnomAD v4 |
| 1 | g.209633086T>C | CA1375903 | LAMB3 | c.612A>G (p.Gln204=) c.420A>G (p.Gln140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633086T>G | CA344594899 | LAMB3 | c.612A>C (p.Gln204His) c.420A>C (p.Gln140His) | |
| 1 | g.209633086T= | CA2484302155 | LAMB3 | c.612A= (p.Gln204=) c.420A= (p.Gln140=) | |
| 1 | g.209633087T>A | CA344594900 | LAMB3 | c.611A>T (p.Gln204Leu) c.419A>T (p.Gln140Leu) | |
| 1 | g.209633087T>C | CA1375904 | LAMB3 | c.611A>G (p.Gln204Arg) c.419A>G (p.Gln140Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633087T>G | CA344594901 | LAMB3 | c.611A>C (p.Gln204Pro) c.419A>C (p.Gln140Pro) | |
| 1 | g.209633087T= | CA2484302156 | LAMB3 | c.611A= (p.Gln204=) c.419A= (p.Gln140=) | |
| 1 | g.209633088G>A | CA344594902 | LAMB3 | c.610C>T (p.Gln204Ter) c.418C>T (p.Gln140Ter) | |
| 1 | g.209633088G>C | CA344594903 | LAMB3 | c.610C>G (p.Gln204Glu) c.418C>G (p.Gln140Glu) | dbSNP gnomAD v4 |
| 1 | g.209633088G= | CA2484302157 | LAMB3 | c.610C= (p.Gln204=) c.418C= (p.Gln140=) | |
| 1 | g.209633088G>T | CA36759906 | LAMB3 | c.610C>A (p.Gln204Lys) c.418C>A (p.Gln140Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209633089A= | CA2484302158 | LAMB3 | c.609T= (p.Thr203=) c.417T= (p.Thr139=) | |
| 1 | g.209633089A>C | CA423032725 | LAMB3 | c.609T>G (p.Thr203=) c.417T>G (p.Thr139=) | |
| 1 | g.209633089A>G | CA423032726 | LAMB3 | c.609T>C (p.Thr203=) c.417T>C (p.Thr139=) | |
| 1 | g.209633089A>T | CA423032724 | LAMB3 | c.609T>A (p.Thr203=) c.417T>A (p.Thr139=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209633090G>A | CA344594904 | LAMB3 | c.608C>T (p.Thr203Ile) c.416C>T (p.Thr139Ile) | |
| 1 | g.209633090G>C | CA344594905 | LAMB3 | c.608C>G (p.Thr203Ser) c.416C>G (p.Thr139Ser) | |
| 1 | g.209633090G>T | CA344594906 | LAMB3 | c.608C>A (p.Thr203Asn) c.416C>A (p.Thr139Asn) | |
| 1 | g.209633091T>A | CA344594907 | LAMB3 | c.607A>T (p.Thr203Ser) c.415A>T (p.Thr139Ser) | |
| 1 | g.209633091T>C | CA344594908 | LAMB3 | c.607A>G (p.Thr203Ala) c.415A>G (p.Thr139Ala) | gnomAD v4 |
| 1 | g.209633091T>G | CA344594909 | LAMB3 | c.607A>C (p.Thr203Pro) c.415A>C (p.Thr139Pro) | |
| 1 | g.209633092T>A | CA423032727 | LAMB3 | c.606A>T (p.Ala202=) c.414A>T (p.Ala138=) | |
| 1 | g.209633092T>C | CA423032728 | LAMB3 | c.606A>G (p.Ala202=) c.414A>G (p.Ala138=) | |
| 1 | g.209633092T>G | CA423032729 | LAMB3 | c.606A>C (p.Ala202=) c.414A>C (p.Ala138=) | |
| 1 | g.209633093G>A | CA344594910 | LAMB3 | c.605C>T (p.Ala202Val) c.413C>T (p.Ala138Val) | gnomAD v4 COSMIC |
| 1 | g.209633093G>C | CA344594911 | LAMB3 | c.605C>G (p.Ala202Gly) c.413C>G (p.Ala138Gly) | |
| 1 | g.209633093G= | CA2484302159 | LAMB3 | c.605C= (p.Ala202=) c.413C= (p.Ala138=) | |
| 1 | g.209633093G>T | CA344594912 | LAMB3 | c.605C>A (p.Ala202Glu) c.413C>A (p.Ala138Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209633094del | CA2586967990 | LAMB3 | c.604del (p.Ala202GlnfsTer16) c.412del (p.Ala138GlnfsTer16) | |
| 1 | g.209633094C>A | CA344594913 | LAMB3 | c.604G>T (p.Ala202Ser) c.412G>T (p.Ala138Ser) | |
| 1 | g.209633094C>G | CA344594914 | LAMB3 | c.604G>C (p.Ala202Pro) c.412G>C (p.Ala138Pro) | |
| 1 | g.209633094C>T | CA344594915 | LAMB3 | c.604G>A (p.Ala202Thr) c.412G>A (p.Ala138Thr) | |
| 1 | g.209633095T>A | CA423032731 | LAMB3 | c.603A>T (p.Pro201=) c.411A>T (p.Pro137=) | |
| 1 | g.209633095T>C | CA423032732 | LAMB3 | c.603A>G (p.Pro201=) c.411A>G (p.Pro137=) | |
| 1 | g.209633095T>G | CA423032733 | LAMB3 | c.603A>C (p.Pro201=) c.411A>C (p.Pro137=) | |
| 1 | g.209633096G>A | CA344594918 | LAMB3 | c.602C>T (p.Pro201Leu) c.410C>T (p.Pro137Leu) | gnomAD v4 |
| 1 | g.209633096G>C | CA344594916 | LAMB3 | c.602C>G (p.Pro201Arg) c.410C>G (p.Pro137Arg) | |
| 1 | g.209633096G>T | CA344594917 | LAMB3 | c.602C>A (p.Pro201Gln) c.410C>A (p.Pro137Gln) | |
| 1 | g.209633097G>A | CA344594919 | LAMB3 | c.601C>T (p.Pro201Ser) c.409C>T (p.Pro137Ser) | |
| 1 | g.209633097G>C | CA344594920 | LAMB3 | c.601C>G (p.Pro201Ala) c.409C>G (p.Pro137Ala) | |
| 1 | g.209633097G>T | CA344594921 | LAMB3 | c.601C>A (p.Pro201Thr) c.409C>A (p.Pro137Thr) | |
| 1 | g.209633098A>C | CA344594922 | LAMB3 | c.600T>G (p.Ile200Met) c.408T>G (p.Ile136Met) | |
| 1 | g.209633098A>G | CA423032734 | LAMB3 | c.600T>C (p.Ile200=) c.408T>C (p.Ile136=) | |
| 1 | g.209633098A>T | CA423032735 | LAMB3 | c.600T>A (p.Ile200=) c.408T>A (p.Ile136=) | |
| 1 | g.209633099A>C | CA344594923 | LAMB3 | c.599T>G (p.Ile200Ser) c.407T>G (p.Ile136Ser) | |
| 1 | g.209633099A>G | CA344594924 | LAMB3 | c.599T>C (p.Ile200Thr) c.407T>C (p.Ile136Thr) | |
| 1 | g.209633099A>T | CA344594925 | LAMB3 | c.599T>A (p.Ile200Asn) c.407T>A (p.Ile136Asn) | |
| 1 | g.209633100T>A | CA344594926 | LAMB3 | c.598A>T (p.Ile200Phe) c.406A>T (p.Ile136Phe) | |
| 1 | g.209633100T>C | CA344594927 | LAMB3 | c.598A>G (p.Ile200Val) c.406A>G (p.Ile136Val) | gnomAD v4 |
| 1 | g.209633100T>G | CA344594928 | LAMB3 | c.598A>C (p.Ile200Leu) c.406A>C (p.Ile136Leu) | |
| 1 | g.209633101C>A | CA1375905 | LAMB3 | c.597G>T (p.Gly199=) c.405G>T (p.Gly135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633101C= | CA1143903825 | LAMB3 | c.597G= (p.Gly199=) c.405G= (p.Gly135=) | |
| 1 | g.209633101C>G | CA423032736 | LAMB3 | c.597G>C (p.Gly199=) c.405G>C (p.Gly135=) | |
| 1 | g.209633101C>T | CA423032737 | LAMB3 | c.597G>A (p.Gly199=) c.405G>A (p.Gly135=) | |
| 1 | g.209633102C>A | CA344594930 | LAMB3 | c.596G>T (p.Gly199Val) c.404G>T (p.Gly135Val) | |
| 1 | g.209633102C= | CA1141581388 | LAMB3 | c.596G= (p.Gly199=) c.404G= (p.Gly135=) | |
| 1 | g.209633102C>G | CA257285 | LAMB3 | c.596G>C (p.Gly199Ala) c.404G>C (p.Gly135Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209633102C>T | CA344594929 | LAMB3 | c.596G>A (p.Gly199Glu) c.404G>A (p.Gly135Glu) | COSMIC |
| 1 | g.209633103C>A | CA344594931 | LAMB3 | c.595G>T (p.Gly199Trp) c.403G>T (p.Gly135Trp) | gnomAD v4 |
| 1 | g.209633103C= | CA2484302160 | LAMB3 | c.595G= (p.Gly199=) c.403G= (p.Gly135=) | |
| 1 | g.209633103C>G | CA344594933 | LAMB3 | c.595G>C (p.Gly199Arg) c.403G>C (p.Gly135Arg) | |
| 1 | g.209633103C>T | CA344594932 | LAMB3 | c.595G>A (p.Gly199Arg) c.403G>A (p.Gly135Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633104A= | CA2484302161 | LAMB3 | c.594T= (p.Ser198=) c.402T= (p.Ser134=) | |
| 1 | g.209633104A>C | CA423032738 | LAMB3 | c.594T>G (p.Ser198=) c.402T>G (p.Ser134=) | |
| 1 | g.209633104A>G | CA423032739 | LAMB3 | c.594T>C (p.Ser198=) c.402T>C (p.Ser134=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633104A>T | CA423032740 | LAMB3 | c.594T>A (p.Ser198=) c.402T>A (p.Ser134=) | dbSNP |
| 1 | g.209633105G>A | CA344594934 | LAMB3 | c.593C>T (p.Ser198Phe) c.401C>T (p.Ser134Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633105G>C | CA344594935 | LAMB3 | c.593C>G (p.Ser198Cys) c.401C>G (p.Ser134Cys) | gnomAD v4 |
| 1 | g.209633105G= | CA2484302162 | LAMB3 | c.593C= (p.Ser198=) c.401C= (p.Ser134=) | |
| 1 | g.209633105G>T | CA344594936 | LAMB3 | c.593C>A (p.Ser198Tyr) c.401C>A (p.Ser134Tyr) | |
| 1 | g.209633106A= | CA2484302163 | LAMB3 | c.592T= (p.Ser198=) c.400T= (p.Ser134=) | |
| 1 | g.209633106A>C | CA344594937 | LAMB3 | c.592T>G (p.Ser198Ala) c.400T>G (p.Ser134Ala) | |
| 1 | g.209633106A>G | CA344594938 | LAMB3 | c.592T>C (p.Ser198Pro) c.400T>C (p.Ser134Pro) | dbSNP |
| 1 | g.209633106A>T | CA344594939 | LAMB3 | c.592T>A (p.Ser198Thr) c.400T>A (p.Ser134Thr) | |
| 1 | g.209633107C>A | CA423032741 | LAMB3 | c.591G>T (p.Val197=) c.399G>T (p.Val133=) | |
| 1 | g.209633107C= | CA2484302164 | LAMB3 | c.591G= (p.Val197=) c.399G= (p.Val133=) | |
| 1 | g.209633107C>G | CA423032742 | LAMB3 | c.591G>C (p.Val197=) c.399G>C (p.Val133=) | ClinVar gnomAD v4 |
| 1 | g.209633107C>T | CA423032743 | LAMB3 | c.591G>A (p.Val197=) c.399G>A (p.Val133=) | dbSNP |
| 1 | g.209633108A= | CA2484302165 | LAMB3 | c.590T= (p.Val197=) c.398T= (p.Val133=) | |
| 1 | g.209633108A>C | CA344594940 | LAMB3 | c.590T>G (p.Val197Gly) c.398T>G (p.Val133Gly) | |
| 1 | g.209633108A>G | CA344594941 | LAMB3 | c.590T>C (p.Val197Ala) c.398T>C (p.Val133Ala) | dbSNP |
| 1 | g.209633108A>T | CA1375906 | LAMB3 | c.590T>A (p.Val197Glu) c.398T>A (p.Val133Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633109C>A | CA344594942 | LAMB3 | c.589G>T (p.Val197Leu) c.397G>T (p.Val133Leu) | |
| 1 | g.209633109C>G | CA344594943 | LAMB3 | c.589G>C (p.Val197Leu) c.397G>C (p.Val133Leu) | |
| 1 | g.209633109C>T | CA344594944 | LAMB3 | c.589G>A (p.Val197Met) c.397G>A (p.Val133Met) | |
| 1 | g.209633110T>A | CA344594945 | LAMB3 | c.588A>T (p.Leu196Phe) c.396A>T (p.Leu132Phe) | |
| 1 | g.209633110T>C | CA423032744 | LAMB3 | c.588A>G (p.Leu196=) c.396A>G (p.Leu132=) | |
| 1 | g.209633110T>G | CA344594946 | LAMB3 | c.588A>C (p.Leu196Phe) c.396A>C (p.Leu132Phe) | |
| 1 | g.209633111A>C | CA344594947 | LAMB3 | c.587T>G (p.Leu196Ter) c.395T>G (p.Leu132Ter) | gnomAD v4 |
| 1 | g.209633111A>G | CA344594948 | LAMB3 | c.587T>C (p.Leu196Ser) c.395T>C (p.Leu132Ser) | |
| 1 | g.209633111A>T | CA344594949 | LAMB3 | c.587T>A (p.Leu196Ter) c.395T>A (p.Leu132Ter) | |
| 1 | g.209633113del | CA2574124601 | LAMB3 | c.587del (p.Leu196Ter) c.395del (p.Leu132Ter) | |
| 1 | g.209633112A>C | CA344594950 | LAMB3 | c.586T>G (p.Leu196Val) c.394T>G (p.Leu132Val) | |
| 1 | g.209633112A>G | CA423032745 | LAMB3 | c.586T>C (p.Leu196=) c.394T>C (p.Leu132=) | |
| 1 | g.209633112A>T | CA344594951 | LAMB3 | c.586T>A (p.Leu196Ile) c.394T>A (p.Leu132Ile) | |
| 1 | g.209633113A>C | CA344594952 | LAMB3 | c.585T>G (p.Asp195Glu) c.393T>G (p.Asp131Glu) | |
| 1 | g.209633113A>G | CA423032746 | LAMB3 | c.585T>C (p.Asp195=) c.393T>C (p.Asp131=) | |
| 1 | g.209633113A>T | CA344594953 | LAMB3 | c.585T>A (p.Asp195Glu) c.393T>A (p.Asp131Glu) | |
| 1 | g.209633114T>A | CA344594954 | LAMB3 | c.584A>T (p.Asp195Val) c.392A>T (p.Asp131Val) | |
| 1 | g.209633114T>C | CA344594955 | LAMB3 | c.584A>G (p.Asp195Gly) c.392A>G (p.Asp131Gly) | gnomAD v4 |
| 1 | g.209633114T>G | CA344594956 | LAMB3 | c.584A>C (p.Asp195Ala) c.392A>C (p.Asp131Ala) | |
| 1 | g.209633115C>A | CA36759909 | LAMB3 | c.583G>T (p.Asp195Tyr) c.391G>T (p.Asp131Tyr) | dbSNP gnomAD v4 |
| 1 | g.209633115C= | CA1149051270 | LAMB3 | c.583G= (p.Asp195=) c.391G= (p.Asp131=) | |
| 1 | g.209633115C>G | CA344594957 | LAMB3 | c.583G>C (p.Asp195His) c.391G>C (p.Asp131His) | |
| 1 | g.209633115C>T | CA344594958 | LAMB3 | c.583G>A (p.Asp195Asn) c.391G>A (p.Asp131Asn) | |
| 1 | g.209633116C>A | CA1375907 | LAMB3 | c.582G>T (p.Met194Ile) c.390G>T (p.Met130Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633116C= | CA1140965772 | LAMB3 | c.582G= (p.Met194=) c.390G= (p.Met130=) | |
| 1 | g.209633116C>G | CA344594960 | LAMB3 | c.582G>C (p.Met194Ile) c.390G>C (p.Met130Ile) | |
| 1 | g.209633116C>T | CA344594959 | LAMB3 | c.582G>A (p.Met194Ile) c.390G>A (p.Met130Ile) | |
| 1 | g.209633117A= | CA2484302166 | LAMB3 | c.581T= (p.Met194=) c.389T= (p.Met130=) | |
| 1 | g.209633117A>C | CA344594961 | LAMB3 | c.581T>G (p.Met194Arg) c.389T>G (p.Met130Arg) | |
| 1 | g.209633117A>G | CA344594962 | LAMB3 | c.581T>C (p.Met194Thr) c.389T>C (p.Met130Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633117A>T | CA344594963 | LAMB3 | c.581T>A (p.Met194Lys) c.389T>A (p.Met130Lys) | |
| 1 | g.209633118T>A | CA344594964 | LAMB3 | c.580A>T (p.Met194Leu) c.388A>T (p.Met130Leu) | |
| 1 | g.209633118T>C | CA344594965 | LAMB3 | c.580A>G (p.Met194Val) c.388A>G (p.Met130Val) | dbSNP |
| 1 | g.209633118T>G | CA344594966 | LAMB3 | c.580A>C (p.Met194Leu) c.388A>C (p.Met130Leu) | |
| 1 | g.209633118T= | CA2484302167 | LAMB3 | c.580A= (p.Met194=) c.388A= (p.Met130=) | |
| 1 | g.209633119A= | CA2484302168 | LAMB3 | c.579T= (p.Leu193=) c.387T= (p.Leu129=) | |
| 1 | g.209633119A>C | CA423032747 | LAMB3 | c.579T>G (p.Leu193=) c.387T>G (p.Leu129=) | |
| 1 | g.209633119A>G | CA36759912 | LAMB3 | c.579T>C (p.Leu193=) c.387T>C (p.Leu129=) | ClinVar dbSNP |
| 1 | g.209633119A>T | CA423032748 | LAMB3 | c.579T>A (p.Leu193=) c.387T>A (p.Leu129=) | |
| 1 | g.209633120A= | CA2484302169 | LAMB3 | c.578T= (p.Leu193=) c.386T= (p.Leu129=) | |
| 1 | g.209633120A>C | CA1375908 | LAMB3 | c.578T>G (p.Leu193Arg) c.386T>G (p.Leu129Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633120A>G | CA344594967 | LAMB3 | c.578T>C (p.Leu193Pro) c.386T>C (p.Leu129Pro) | |
| 1 | g.209633120A>T | CA344594968 | LAMB3 | c.578T>A (p.Leu193His) c.386T>A (p.Leu129His) | |
| 1 | g.209633121G>A | CA344594969 | LAMB3 | c.577C>T (p.Leu193Phe) c.385C>T (p.Leu129Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633121G>C | CA344594970 | LAMB3 | c.577C>G (p.Leu193Val) c.385C>G (p.Leu129Val) | |
| 1 | g.209633121G= | CA2484302170 | LAMB3 | c.577C= (p.Leu193=) c.385C= (p.Leu129=) | |
| 1 | g.209633121G>T | CA344594971 | LAMB3 | c.577C>A (p.Leu193Ile) c.385C>A (p.Leu129Ile) | |
| 1 | g.209633122G>A | CA1375909 | LAMB3 | c.576C>T (p.Asn192=) c.384C>T (p.Asn128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633122G>C | CA344594972 | LAMB3 | c.576C>G (p.Asn192Lys) c.384C>G (p.Asn128Lys) | |
| 1 | g.209633122G= | CA2484302171 | LAMB3 | c.576C= (p.Asn192=) c.384C= (p.Asn128=) | |
| 1 | g.209633122G>T | CA344594973 | LAMB3 | c.576C>A (p.Asn192Lys) c.384C>A (p.Asn128Lys) | |
| 1 | g.209633123T>A | CA344594974 | LAMB3 | c.575A>T (p.Asn192Ile) c.383A>T (p.Asn128Ile) | |
| 1 | g.209633123T>C | CA344594975 | LAMB3 | c.575A>G (p.Asn192Ser) c.383A>G (p.Asn128Ser) | |
| 1 | g.209633123T>G | CA344594976 | LAMB3 | c.575A>C (p.Asn192Thr) c.383A>C (p.Asn128Thr) | |
| 1 | g.209633124T>A | CA344594977 | LAMB3 | c.574A>T (p.Asn192Tyr) c.382A>T (p.Asn128Tyr) | |
| 1 | g.209633124T>C | CA344594978 | LAMB3 | c.574A>G (p.Asn192Asp) c.382A>G (p.Asn128Asp) | |
| 1 | g.209633124T>G | CA344594979 | LAMB3 | c.574A>C (p.Asn192His) c.382A>C (p.Asn128His) | |
| 1 | g.209633125A= | CA2484302172 | LAMB3 | c.573T= (p.Leu191=) c.381T= (p.Leu127=) | |
| 1 | g.209633125A>C | CA423032749 | LAMB3 | c.573T>G (p.Leu191=) c.381T>G (p.Leu127=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633125A>G | CA423032750 | LAMB3 | c.573T>C (p.Leu191=) c.381T>C (p.Leu127=) | |
| 1 | g.209633125A>T | CA423032751 | LAMB3 | c.573T>A (p.Leu191=) c.381T>A (p.Leu127=) | |
| 1 | g.209633126A>C | CA344594980 | LAMB3 | c.572T>G (p.Leu191Arg) c.380T>G (p.Leu127Arg) | |
| 1 | g.209633126A>G | CA344594981 | LAMB3 | c.572T>C (p.Leu191Pro) c.380T>C (p.Leu127Pro) | |
| 1 | g.209633126A>T | CA344594982 | LAMB3 | c.572T>A (p.Leu191His) c.380T>A (p.Leu127His) | |
| 1 | g.209633127G>A | CA344594983 | LAMB3 | c.571C>T (p.Leu191Phe) c.379C>T (p.Leu127Phe) | |
| 1 | g.209633127G>C | CA344594984 | LAMB3 | c.571C>G (p.Leu191Val) c.379C>G (p.Leu127Val) | |
| 1 | g.209633127G>T | CA344594985 | LAMB3 | c.571C>A (p.Leu191Ile) c.379C>A (p.Leu127Ile) | |
| 1 | g.209633128T>A | CA344594986 | LAMB3 | c.570A>T (p.Gln190His) c.378A>T (p.Gln126His) | |
| 1 | g.209633128T>C | CA423032752 | LAMB3 | c.570A>G (p.Gln190=) c.378A>G (p.Gln126=) | gnomAD v4 |
| 1 | g.209633128T>G | CA344594987 | LAMB3 | c.570A>C (p.Gln190His) c.378A>C (p.Gln126His) | |
| 1 | g.209633129T>A | CA344594988 | LAMB3 | c.569A>T (p.Gln190Leu) c.377A>T (p.Gln126Leu) | |
| 1 | g.209633129T>C | CA344594990 | LAMB3 | c.569A>G (p.Gln190Arg) c.377A>G (p.Gln126Arg) | |
| 1 | g.209633129T>G | CA344594989 | LAMB3 | c.569A>C (p.Gln190Pro) c.377A>C (p.Gln126Pro) | |
| 1 | g.209633130G>A | CA344594991 | LAMB3 | c.568C>T (p.Gln190Ter) c.376C>T (p.Gln126Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633130G>C | CA344594993 | LAMB3 | c.568C>G (p.Gln190Glu) c.376C>G (p.Gln126Glu) | |
| 1 | g.209633130G= | CA2484302173 | LAMB3 | c.568C= (p.Gln190=) c.376C= (p.Gln126=) | |
| 1 | g.209633130G>T | CA344594992 | LAMB3 | c.568C>A (p.Gln190Lys) c.376C>A (p.Gln126Lys) | |
| 1 | g.209633131G>A | CA423032753 | LAMB3 | c.567C>T (p.Val189=) c.375C>T (p.Val125=) | ClinVar gnomAD v4 |
| 1 | g.209633131G>C | CA423032754 | LAMB3 | c.567C>G (p.Val189=) c.375C>G (p.Val125=) | |
| 1 | g.209633131G>T | CA423032755 | LAMB3 | c.567C>A (p.Val189=) c.375C>A (p.Val125=) | |
| 1 | g.209633132A>C | CA344594994 | LAMB3 | c.566T>G (p.Val189Gly) c.374T>G (p.Val125Gly) | |
| 1 | g.209633132A>G | CA344594996 | LAMB3 | c.566T>C (p.Val189Ala) c.374T>C (p.Val125Ala) | |
| 1 | g.209633132A>T | CA344594995 | LAMB3 | c.566T>A (p.Val189Asp) c.374T>A (p.Val125Asp) | gnomAD v4 |
| 1 | g.209633133C>A | CA344594997 | LAMB3 | c.565G>T (p.Val189Phe) c.373G>T (p.Val125Phe) | |
| 1 | g.209633133C>G | CA344594999 | LAMB3 | c.565G>C (p.Val189Leu) c.373G>C (p.Val125Leu) | |
| 1 | g.209633133C>T | CA344594998 | LAMB3 | c.565G>A (p.Val189Ile) c.373G>A (p.Val125Ile) | gnomAD v3 gnomAD v4 |
| 1 | g.209633134C>A | CA16040702 | LAMB3 | c.565-1G>T (n.565-1G>T) c.373-1G>T (n.373-1G>T) | ClinVar dbSNP |
| 1 | g.209633134C= | CA2484302174 | LAMB3 | c.565-1G= (n.565-1G=) c.373-1G= (n.373-1G=) | |
| 1 | g.209633134C>G | CA344595002 | LAMB3 | c.565-1G>C (n.565-1G>C) c.373-1G>C (n.373-1G>C) | ClinVar |
| 1 | g.209633134C>T | CA344595004 | LAMB3 | c.565-1G>A (n.565-1G>A) c.373-1G>A (n.373-1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209633135T>A | CA344595007 | LAMB3 | c.565-2A>T (n.565-2A>T) c.373-2A>T (n.373-2A>T) | |
| 1 | g.209633135T>C | CA274032 | LAMB3 | c.565-2A>G (n.565-2A>G) c.373-2A>G (n.373-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633135T>G | CA16040703 | LAMB3 | c.565-2A>C (n.565-2A>C) c.373-2A>C (n.373-2A>C) | ClinVar dbSNP |
| 1 | g.209633135T= | CA1143710301 | LAMB3 | c.565-2A= (n.565-2A=) c.373-2A= (n.373-2A=) | |
| 1 | g.209633136A= | CA1148224949 | LAMB3 | c.565-3T= (n.565-3T=) c.373-3T= (n.373-3T=) | |
| 1 | g.209633136A>C | CA423032756 | LAMB3 | c.565-3T>G (n.565-3T>G) c.373-3T>G (n.373-3T>G) | |
| 1 | g.209633136A>G | CA257286 | LAMB3 | c.565-3T>C (n.565-3T>C) c.373-3T>C (n.373-3T>C) | ClinVar dbSNP |
| 1 | g.209633136A>T | CA423032757 | LAMB3 | c.565-3T>A (n.565-3T>A) c.373-3T>A (n.373-3T>A) | |
| 1 | g.209633138A>G | CA2650322537 | LAMB3 | c.565-5T>C (n.565-5T>C) c.373-5T>C (n.373-5T>C) | gnomAD v4 |
| 1 | g.209633139G>A | CA528652937 | LAMB3 | c.565-6C>T (n.565-6C>T) c.373-6C>T (n.373-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633139G>C | CA528652938 | LAMB3 | c.565-6C>G (n.565-6C>G) c.373-6C>G (n.373-6C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633139G= | CA2484302175 | LAMB3 | c.565-6C= (n.565-6C=) c.373-6C= (n.373-6C=) | |
| 1 | g.209633141G>A | CA528652939 | LAMB3 | c.565-8C>T (n.565-8C>T) c.373-8C>T (n.373-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633141G= | CA2484302176 | LAMB3 | c.565-8C= (n.565-8C=) c.373-8C= (n.373-8C=) | |
| 1 | g.209633142G>A | CA528652940 | LAMB3 | c.565-9C>T (n.565-9C>T) c.373-9C>T (n.373-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633142G= | CA2484302177 | LAMB3 | c.565-9C= (n.565-9C=) c.373-9C= (n.373-9C=) | |
| 1 | g.209633143G>A | CA2484302179 | LAMB3 | c.565-10C>T (n.565-10C>T) c.373-10C>T (n.373-10C>T) | dbSNP gnomAD v4 |
| 1 | g.209633143G= | CA2484302178 | LAMB3 | c.565-10C= (n.565-10C=) c.373-10C= (n.373-10C=) | |
| 1 | g.209633144A>G | CA423032758 | LAMB3 | c.565-11T>C (n.565-11T>C) c.373-11T>C (n.373-11T>C) | |
| 1 | g.209633145A>G | CA2650322538 | LAMB3 | c.565-12T>C (n.565-12T>C) c.373-12T>C (n.373-12T>C) | gnomAD v4 |
| 1 | g.209633146G>A | CA2650322540 | LAMB3 | c.565-13C>T (n.565-13C>T) c.373-13C>T (n.373-13C>T) | gnomAD v4 |
| 1 | g.209633146G>T | CA2650322539 | LAMB3 | c.565-13C>A (n.565-13C>A) c.373-13C>A (n.373-13C>A) | gnomAD v4 |
| 1 | g.209633147G>A | CA1375910 | LAMB3 | c.565-14C>T (n.565-14C>T) c.373-14C>T (n.373-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633147G= | CA2484302180 | LAMB3 | c.565-14C= (n.565-14C=) c.373-14C= (n.373-14C=) | |
| 1 | g.209633148G>T | CA2650322541 | LAMB3 | c.565-15C>A (n.565-15C>A) c.373-15C>A (n.373-15C>A) | gnomAD v4 |
| 1 | g.209633149A= | CA2484302181 | LAMB3 | c.565-16T= (n.565-16T=) c.373-16T= (n.373-16T=) | |
| 1 | g.209633149A>T | CA2484302182 | LAMB3 | c.565-16T>A (n.565-16T>A) c.373-16T>A (n.373-16T>A) | dbSNP gnomAD v4 |
| 1 | g.209633151del | CA2574124602 | LAMB3 | c.565-16del (n.565-16del) c.373-16del (n.373-16del) | |
| 1 | g.209633150A>C | CA2650322542 | LAMB3 | c.565-17T>G (n.565-17T>G) c.373-17T>G (n.373-17T>G) | gnomAD v4 |
| 1 | g.209633152G>A | CA1375911 | LAMB3 | c.565-19C>T (n.565-19C>T) c.373-19C>T (n.373-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633152G= | CA1143480553 | LAMB3 | c.565-19C= (n.565-19C=) c.373-19C= (n.373-19C=) | |
| 1 | g.209633153A= | CA2484302183 | LAMB3 | c.565-20T= (n.565-20T=) c.373-20T= (n.373-20T=) | |
| 1 | g.209633153A>C | CA2650322543 | LAMB3 | c.565-20T>G (n.565-20T>G) c.373-20T>G (n.373-20T>G) | gnomAD v4 |
| 1 | g.209633153A>G | CA36759921 | LAMB3 | c.565-20T>C (n.565-20T>C) c.373-20T>C (n.373-20T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633153A>T | CA2484302184 | LAMB3 | c.565-20T>A (n.565-20T>A) c.373-20T>A (n.373-20T>A) | ClinVar dbSNP |
| 1 | g.209633155A>G | CA2650322544 | LAMB3 | c.565-22T>C (n.565-22T>C) c.373-22T>C (n.373-22T>C) | gnomAD v4 |
| 1 | g.209633156A>G | CA2650322545 | LAMB3 | c.565-23T>C (n.565-23T>C) c.373-23T>C (n.373-23T>C) | gnomAD v4 |
| 1 | g.209633158C>A | CA1375913 | LAMB3 | c.565-25G>T (n.565-25G>T) c.373-25G>T (n.373-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633158C= | CA1141292246 | LAMB3 | c.565-25G= (n.565-25G=) c.373-25G= (n.373-25G=) | |
| 1 | g.209633158C>T | CA1375912 | LAMB3 | c.565-25G>A (n.565-25G>A) c.373-25G>A (n.373-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633159G>A | CA1375914 | LAMB3 | c.565-26C>T (n.565-26C>T) c.373-26C>T (n.373-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209633159G>C | CA528652941 | LAMB3 | c.565-26C>G (n.565-26C>G) c.373-26C>G (n.373-26C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633159G= | CA2484302185 | LAMB3 | c.565-26C= (n.565-26C=) c.373-26C= (n.373-26C=) | |
| 1 | g.209633159G>T | CA1375915 | LAMB3 | c.565-26C>A (n.565-26C>A) c.373-26C>A (n.373-26C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633161T>C | CA2574124603 | LAMB3 | c.565-28A>G (n.565-28A>G) c.373-28A>G (n.373-28A>G) | |
| 1 | g.209633162G>T | CA2574124604 | LAMB3 | c.565-29C>A (n.565-29C>A) c.373-29C>A (n.373-29C>A) | gnomAD v4 |
| 1 | g.209633164A= | CA2484302186 | LAMB3 | c.565-31T= (n.565-31T=) c.373-31T= (n.373-31T=) | |
| 1 | g.209633164A>C | CA528652942 | LAMB3 | c.565-31T>G (n.565-31T>G) c.373-31T>G (n.373-31T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209633164A>G | CA1375916 | LAMB3 | c.565-31T>C (n.565-31T>C) c.373-31T>C (n.373-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633165G= | CA2484302187 | LAMB3 | c.565-32C= (n.565-32C=) c.373-32C= (n.373-32C=) | |
| 1 | g.209633165G>T | CA1375917 | LAMB3 | c.565-32C>A (n.565-32C>A) c.373-32C>A (n.373-32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633167A>C | CA2650322547 | LAMB3 | c.565-34T>G (n.565-34T>G) c.373-34T>G (n.373-34T>G) | gnomAD v4 |
| 1 | g.209633168G>A | CA2747563291 | LAMB3 | c.565-35C>T (n.565-35C>T) c.373-35C>T (n.373-35C>T) | |
| 1 | g.209633168G>T | CA2650322548 | LAMB3 | c.565-35C>A (n.565-35C>A) c.373-35C>A (n.373-35C>A) | gnomAD v4 |
| 1 | g.209633170G>C | CA2650322549 | LAMB3 | c.565-37C>G (n.565-37C>G) c.373-37C>G (n.373-37C>G) | gnomAD v4 |
| 1 | g.209633170G>T | CA2650322550 | LAMB3 | c.565-37C>A (n.565-37C>A) c.373-37C>A (n.373-37C>A) | gnomAD v4 |
| 1 | g.209633171A>C | CA2650322551 | LAMB3 | c.565-38T>G (n.565-38T>G) c.373-38T>G (n.373-38T>G) | gnomAD v4 |
| 1 | g.209633172C>A | CA2484302188 | LAMB3 | c.565-39G>T (n.565-39G>T) c.373-39G>T (n.373-39G>T) | dbSNP |
| 1 | g.209633172C= | CA1142272181 | LAMB3 | c.565-39G= (n.565-39G=) c.373-39G= (n.373-39G=) | |
| 1 | g.209633172C>T | CA1375918 | LAMB3 | c.565-39G>A (n.565-39G>A) c.373-39G>A (n.373-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633173A>C | CA2650322552 | LAMB3 | c.565-40T>G (n.565-40T>G) c.373-40T>G (n.373-40T>G) | gnomAD v4 |
| 1 | g.209633175del | CA2574124605 | LAMB3 | c.565-40del (n.565-40del) c.373-40del (n.373-40del) | |
| 1 | g.209633174A>C | CA2650322553 | LAMB3 | c.565-41T>G (n.565-41T>G) c.373-41T>G (n.373-41T>G) | dbSNP gnomAD v4 |
| 1 | g.209633175A>C | CA2574124606 | LAMB3 | c.565-42T>G (n.565-42T>G) c.373-42T>G (n.373-42T>G) | gnomAD v4 |
| 1 | g.209633175A>T | CA2574124607 | LAMB3 | c.565-42T>A (n.565-42T>A) c.373-42T>A (n.373-42T>A) | |
| 1 | g.209633176T>C | CA730835984 | LAMB3 | c.565-43A>G (n.565-43A>G) c.373-43A>G (n.373-43A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209633176T>G | CA1375919 | LAMB3 | c.565-43A>C (n.565-43A>C) c.373-43A>C (n.373-43A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633176T= | CA1149062087 | LAMB3 | c.565-43A= (n.565-43A=) c.373-43A= (n.373-43A=) | |
| 1 | g.209633176dup | CA2574124608 | LAMB3 | c.565-43dup (n.565-43dup) c.373-43dup (n.373-43dup) | gnomAD v4 |
| 1 | g.209633177A= | CA2484302189 | LAMB3 | c.565-44T= (n.565-44T=) c.373-44T= (n.373-44T=) | |
| 1 | g.209633177A>G | CA1375920 | LAMB3 | c.565-44T>C (n.565-44T>C) c.373-44T>C (n.373-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209633177A>T | CA2650322554 | LAMB3 | c.565-44T>A (n.565-44T>A) c.373-44T>A (n.373-44T>A) | gnomAD v4 |
| 1 | g.209633179T>A | CA2650322555 | LAMB3 | c.565-46A>T (n.565-46A>T) c.373-46A>T (n.373-46A>T) | gnomAD v4 |
| 1 | g.209633179T>G | CA2650322556 | LAMB3 | c.565-46A>C (n.565-46A>C) c.373-46A>C (n.373-46A>C) | gnomAD v4 |