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.209623835C= | CA2484298406 | LAMB3 | c.2137+5G= (n.2137+5G=) c.1945+5G= (n.1945+5G=) | |
| 1 | g.209623835C>G | CA529000167 | LAMB3 | c.2137+5G>C (n.2137+5G>C) c.1945+5G>C (n.1945+5G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623837C= | CA2484298407 | LAMB3 | c.2137+3G= (n.2137+3G=) c.1945+3G= (n.1945+3G=) | |
| 1 | g.209623837C>T | CA1011766828 | LAMB3 | c.2137+3G>A (n.2137+3G>A) c.1945+3G>A (n.1945+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623838A>C | CA344588648 | LAMB3 | c.2137+2T>G (n.2137+2T>G) c.1945+2T>G (n.1945+2T>G) | |
| 1 | g.209623838A>G | CA344588647 | LAMB3 | c.2137+2T>C (n.2137+2T>C) c.1945+2T>C (n.1945+2T>C) | gnomAD v4 |
| 1 | g.209623838A>T | CA344588646 | LAMB3 | c.2137+2T>A (n.2137+2T>A) c.1945+2T>A (n.1945+2T>A) | ClinVar gnomAD v4 |
| 1 | g.209623839C>A | CA344588649 | LAMB3 | c.2137+1G>T (n.2137+1G>T) c.1945+1G>T (n.1945+1G>T) | ClinVar dbSNP |
| 1 | g.209623839C>G | CA344588650 | LAMB3 | c.2137+1G>C (n.2137+1G>C) c.1945+1G>C (n.1945+1G>C) | |
| 1 | g.209623839C>T | CA344588651 | LAMB3 | c.2137+1G>A (n.2137+1G>A) c.1945+1G>A (n.1945+1G>A) | |
| 1 | g.209623840C>A | CA344588652 | LAMB3 | c.2137G>T (p.Gly713Ter) c.1945G>T (p.Gly649Ter) | |
| 1 | g.209623840C>G | CA344588653 | LAMB3 | c.2137G>C (p.Gly713Arg) c.1945G>C (p.Gly649Arg) | |
| 1 | g.209623840C>T | CA344588654 | LAMB3 | c.2137G>A (p.Gly713Arg) c.1945G>A (p.Gly649Arg) | gnomAD v4 |
| 1 | g.209623841T>A | CA423142058 | LAMB3 | c.2136A>T (p.Ser712=) c.1944A>T (p.Ser648=) | |
| 1 | g.209623841T>C | CA423142060 | LAMB3 | c.2136A>G (p.Ser712=) c.1944A>G (p.Ser648=) | |
| 1 | g.209623841T>G | CA423142059 | LAMB3 | c.2136A>C (p.Ser712=) c.1944A>C (p.Ser648=) | |
| 1 | g.209623842G>A | CA344588655 | LAMB3 | c.2135C>T (p.Ser712Leu) c.1943C>T (p.Ser648Leu) | COSMIC |
| 1 | g.209623842G>C | CA344588657 | LAMB3 | c.2135C>G (p.Ser712Ter) c.1943C>G (p.Ser648Ter) | |
| 1 | g.209623842G>T | CA344588656 | LAMB3 | c.2135C>A (p.Ser712Ter) c.1943C>A (p.Ser648Ter) | |
| 1 | g.209623843A= | CA2484298408 | LAMB3 | c.2134T= (p.Ser712=) c.1942T= (p.Ser648=) | |
| 1 | g.209623843A>C | CA1375373 | LAMB3 | c.2134T>G (p.Ser712Ala) c.1942T>G (p.Ser648Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623843A>G | CA344588658 | LAMB3 | c.2134T>C (p.Ser712Pro) c.1942T>C (p.Ser648Pro) | |
| 1 | g.209623843A>T | CA344588659 | LAMB3 | c.2134T>A (p.Ser712Thr) c.1942T>A (p.Ser648Thr) | |
| 1 | g.209623844A= | CA1143321853 | LAMB3 | c.2133T= (p.Pro711=) c.1941T= (p.Pro647=) | |
| 1 | g.209623844A>C | CA1375374 | LAMB3 | c.2133T>G (p.Pro711=) c.1941T>G (p.Pro647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623844A>G | CA423142075 | LAMB3 | c.2133T>C (p.Pro711=) c.1941T>C (p.Pro647=) | ClinVar dbSNP |
| 1 | g.209623844A>T | CA423142077 | LAMB3 | c.2133T>A (p.Pro711=) c.1941T>A (p.Pro647=) | |
| 1 | g.209623845G>A | CA344588660 | LAMB3 | c.2132C>T (p.Pro711Leu) c.1940C>T (p.Pro647Leu) | COSMIC |
| 1 | g.209623845G>C | CA344588661 | LAMB3 | c.2132C>G (p.Pro711Arg) c.1940C>G (p.Pro647Arg) | |
| 1 | g.209623845G>T | CA344588662 | LAMB3 | c.2132C>A (p.Pro711His) c.1940C>A (p.Pro647His) | |
| 1 | g.209623845_209623846delinsAA | CA645532777 | LAMB3 | c.2131_2132delinsTT (p.Pro711Phe) c.1939_1940delinsTT (p.Pro647Phe) | COSMIC |
| 1 | g.209623846G>A | CA344588663 | LAMB3 | c.2131C>T (p.Pro711Ser) c.1939C>T (p.Pro647Ser) | COSMIC |
| 1 | g.209623846G>C | CA344588664 | LAMB3 | c.2131C>G (p.Pro711Ala) c.1939C>G (p.Pro647Ala) | |
| 1 | g.209623846G>T | CA344588665 | LAMB3 | c.2131C>A (p.Pro711Thr) c.1939C>A (p.Pro647Thr) | gnomAD v4 |
| 1 | g.209623847A>C | CA344588666 | LAMB3 | c.2130T>G (p.Asp710Glu) c.1938T>G (p.Asp646Glu) | |
| 1 | g.209623847A>G | CA423142088 | LAMB3 | c.2130T>C (p.Asp710=) c.1938T>C (p.Asp646=) | gnomAD v4 |
| 1 | g.209623847A>T | CA344588667 | LAMB3 | c.2130T>A (p.Asp710Glu) c.1938T>A (p.Asp646Glu) | |
| 1 | g.209623848T>A | CA344588670 | LAMB3 | c.2129A>T (p.Asp710Val) c.1937A>T (p.Asp646Val) | |
| 1 | g.209623848T>C | CA344588668 | LAMB3 | c.2129A>G (p.Asp710Gly) c.1937A>G (p.Asp646Gly) | |
| 1 | g.209623848T>G | CA344588669 | LAMB3 | c.2129A>C (p.Asp710Ala) c.1937A>C (p.Asp646Ala) | |
| 1 | g.209623849C>A | CA344588671 | LAMB3 | c.2128G>T (p.Asp710Tyr) c.1936G>T (p.Asp646Tyr) | gnomAD v4 |
| 1 | g.209623849C>G | CA344588672 | LAMB3 | c.2128G>C (p.Asp710His) c.1936G>C (p.Asp646His) | |
| 1 | g.209623849C>T | CA344588673 | LAMB3 | c.2128G>A (p.Asp710Asn) c.1936G>A (p.Asp646Asn) | COSMIC |
| 1 | g.209623849_209623869del | CA913072630 | LAMB3 | c.2108_2128del (p.Phe703_Asp710delinsTyr) c.1916_1936del (p.Phe639_Asp646delinsTyr) | |
| 1 | g.209623849_209623869delinsCAGCACTGCTTATTTTTTCAA | CA2484298409 | LAMB3 | c.2108_2128delinsTTGAAAAAATAAGCAGTGCTG (p.Phe703=) c.1916_1936delinsTTGAAAAAATAAGCAGTGCTG (p.Phe639=) | |
| 1 | g.209623850A= | CA2484298410 | LAMB3 | c.2127T= (p.Ala709=) c.1935T= (p.Ala645=) | |
| 1 | g.209623850A>C | CA423142100 | LAMB3 | c.2127T>G (p.Ala709=) c.1935T>G (p.Ala645=) | |
| 1 | g.209623850A>G | CA423142101 | LAMB3 | c.2127T>C (p.Ala709=) c.1935T>C (p.Ala645=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623850A>T | CA423142104 | LAMB3 | c.2127T>A (p.Ala709=) c.1935T>A (p.Ala645=) | |
| 1 | g.209623851_209623870del | CA658822565 | LAMB3 | c.2108_2127del (p.Phe703Ter) c.1916_1935del (p.Phe639Ter) | ClinVar dbSNP |
| 1 | g.209623851G>A | CA1375375 | LAMB3 | c.2126C>T (p.Ala709Val) c.1934C>T (p.Ala645Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623851G>C | CA344588674 | LAMB3 | c.2126C>G (p.Ala709Gly) c.1934C>G (p.Ala645Gly) | |
| 1 | g.209623851G= | CA2484298411 | LAMB3 | c.2126C= (p.Ala709=) c.1934C= (p.Ala645=) | |
| 1 | g.209623851G>T | CA344588675 | LAMB3 | c.2126C>A (p.Ala709Asp) c.1934C>A (p.Ala645Asp) | dbSNP |
| 1 | g.209623852C>A | CA36752849 | LAMB3 | c.2125G>T (p.Ala709Ser) c.1933G>T (p.Ala645Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623852C= | CA1142675048 | LAMB3 | c.2125G= (p.Ala709=) c.1933G= (p.Ala645=) | |
| 1 | g.209623852C>G | CA344588676 | LAMB3 | c.2125G>C (p.Ala709Pro) c.1933G>C (p.Ala645Pro) | |
| 1 | g.209623852C>T | CA344588677 | LAMB3 | c.2125G>A (p.Ala709Thr) c.1933G>A (p.Ala645Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623853A= | CA1139912084 | LAMB3 | c.2124T= (p.Ser708=) c.1932T= (p.Ser644=) | |
| 1 | g.209623853A>C | CA344588678 | LAMB3 | c.2124T>G (p.Ser708Arg) c.1932T>G (p.Ser644Arg) | dbSNP gnomAD v2 |
| 1 | g.209623853A>G | CA1375376 | LAMB3 | c.2124T>C (p.Ser708=) c.1932T>C (p.Ser644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623853A>T | CA344588679 | LAMB3 | c.2124T>A (p.Ser708Arg) c.1932T>A (p.Ser644Arg) | |
| 1 | g.209623854C>A | CA344588682 | LAMB3 | c.2123G>T (p.Ser708Ile) c.1931G>T (p.Ser644Ile) | |
| 1 | g.209623854C= | CA2484298412 | LAMB3 | c.2123G= (p.Ser708=) c.1931G= (p.Ser644=) | |
| 1 | g.209623854C>G | CA344588681 | LAMB3 | c.2123G>C (p.Ser708Thr) c.1931G>C (p.Ser644Thr) | dbSNP |
| 1 | g.209623854C>T | CA344588680 | LAMB3 | c.2123G>A (p.Ser708Asn) c.1931G>A (p.Ser644Asn) | gnomAD v4 |
| 1 | g.209623855T>A | CA344588683 | LAMB3 | c.2122A>T (p.Ser708Cys) c.1930A>T (p.Ser644Cys) | |
| 1 | g.209623855T>C | CA344588684 | LAMB3 | c.2122A>G (p.Ser708Gly) c.1930A>G (p.Ser644Gly) | gnomAD v4 |
| 1 | g.209623855T>G | CA1375377 | LAMB3 | c.2122A>C (p.Ser708Arg) c.1930A>C (p.Ser644Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623855T= | CA2484298413 | LAMB3 | c.2122A= (p.Ser708=) c.1930A= (p.Ser644=) | |
| 1 | g.209623856G>A | CA423142129 | LAMB3 | c.2121C>T (p.Ser707=) c.1929C>T (p.Ser643=) | gnomAD v4 |
| 1 | g.209623856G>C | CA344588685 | LAMB3 | c.2121C>G (p.Ser707Arg) c.1929C>G (p.Ser643Arg) | |
| 1 | g.209623856G>T | CA344588686 | LAMB3 | c.2121C>A (p.Ser707Arg) c.1929C>A (p.Ser643Arg) | |
| 1 | g.209623857C>A | CA344588687 | LAMB3 | c.2120G>T (p.Ser707Ile) c.1928G>T (p.Ser643Ile) | |
| 1 | g.209623857C>G | CA344588688 | LAMB3 | c.2120G>C (p.Ser707Thr) c.1928G>C (p.Ser643Thr) | |
| 1 | g.209623857C>T | CA344588689 | LAMB3 | c.2120G>A (p.Ser707Asn) c.1928G>A (p.Ser643Asn) | gnomAD v4 |
| 1 | g.209623858T>A | CA344588690 | LAMB3 | c.2119A>T (p.Ser707Cys) c.1927A>T (p.Ser643Cys) | |
| 1 | g.209623858T>C | CA344588691 | LAMB3 | c.2119A>G (p.Ser707Gly) c.1927A>G (p.Ser643Gly) | |
| 1 | g.209623858T>G | CA344588692 | LAMB3 | c.2119A>C (p.Ser707Arg) c.1927A>C (p.Ser643Arg) | |
| 1 | g.209623859T>A | CA1375379 | LAMB3 | c.2118A>T (p.Ile706=) c.1926A>T (p.Ile642=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623859T>C | CA1375378 | LAMB3 | c.2118A>G (p.Ile706Met) c.1926A>G (p.Ile642Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623859T>G | CA423142144 | LAMB3 | c.2118A>C (p.Ile706=) c.1926A>C (p.Ile642=) | |
| 1 | g.209623859T= | CA2484298414 | LAMB3 | c.2118A= (p.Ile706=) c.1926A= (p.Ile642=) | |
| 1 | g.209623860A= | CA1143831768 | LAMB3 | c.2117T= (p.Ile706=) c.1925T= (p.Ile642=) | |
| 1 | g.209623860A>C | CA344588693 | LAMB3 | c.2117T>G (p.Ile706Arg) c.1925T>G (p.Ile642Arg) | |
| 1 | g.209623860A>G | CA344588694 | LAMB3 | c.2117T>C (p.Ile706Thr) c.1925T>C (p.Ile642Thr) | gnomAD v4 COSMIC |
| 1 | g.209623860A>T | CA1375380 | LAMB3 | c.2117T>A (p.Ile706Lys) c.1925T>A (p.Ile642Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.209623860_209623861delinsAT | CA2484298415 | LAMB3 | c.2116_2117delinsAT (p.Ile706=) c.1924_1925delinsAT (p.Ile642=) | |
| 1 | g.209623861T>A | CA344588695 | LAMB3 | c.2116A>T (p.Ile706Leu) c.1924A>T (p.Ile642Leu) | |
| 1 | g.209623861T>C | CA344588696 | LAMB3 | c.2116A>G (p.Ile706Val) c.1924A>G (p.Ile642Val) | gnomAD v4 |
| 1 | g.209623861T>G | CA344588697 | LAMB3 | c.2116A>C (p.Ile706Leu) c.1924A>C (p.Ile642Leu) | |
| 1 | g.209623866dup | CA529000168 | LAMB3 | c.2116dup (p.Ile706AsnfsTer5) c.1924dup (p.Ile642AsnfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623866del | CA1375381 | LAMB3 | c.2116del (p.Ile706Ter) c.1924del (p.Ile642Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.209623862T>A | CA344588699 | LAMB3 | c.2115A>T (p.Lys705Asn) c.1923A>T (p.Lys641Asn) | |
| 1 | g.209623862T>C | CA423142166 | LAMB3 | c.2115A>G (p.Lys705=) c.1923A>G (p.Lys641=) | |
| 1 | g.209623862T>G | CA344588698 | LAMB3 | c.2115A>C (p.Lys705Asn) c.1923A>C (p.Lys641Asn) | |
| 1 | g.209623863T>A | CA344588702 | LAMB3 | c.2114A>T (p.Lys705Ile) c.1922A>T (p.Lys641Ile) | |
| 1 | g.209623863T>C | CA344588700 | LAMB3 | c.2114A>G (p.Lys705Arg) c.1922A>G (p.Lys641Arg) | |
| 1 | g.209623863T>G | CA344588701 | LAMB3 | c.2114A>C (p.Lys705Thr) c.1922A>C (p.Lys641Thr) | |
| 1 | g.209623864T>A | CA344588703 | LAMB3 | c.2113A>T (p.Lys705Ter) c.1921A>T (p.Lys641Ter) | |
| 1 | g.209623864T>C | CA344588704 | LAMB3 | c.2113A>G (p.Lys705Glu) c.1921A>G (p.Lys641Glu) | |
| 1 | g.209623864T>G | CA344588705 | LAMB3 | c.2113A>C (p.Lys705Gln) c.1921A>C (p.Lys641Gln) | |
| 1 | g.209623865T>A | CA344588706 | LAMB3 | c.2112A>T (p.Glu704Asp) c.1920A>T (p.Glu640Asp) | |
| 1 | g.209623865T>C | CA423142178 | LAMB3 | c.2112A>G (p.Glu704=) c.1920A>G (p.Glu640=) | |
| 1 | g.209623865T>G | CA344588707 | LAMB3 | c.2112A>C (p.Glu704Asp) c.1920A>C (p.Glu640Asp) | dbSNP |
| 1 | g.209623865T= | CA2484298416 | LAMB3 | c.2112A= (p.Glu704=) c.1920A= (p.Glu640=) | |
| 1 | g.209623866T>A | CA344588708 | LAMB3 | c.2111A>T (p.Glu704Val) c.1919A>T (p.Glu640Val) | |
| 1 | g.209623866T>C | CA344588709 | LAMB3 | c.2111A>G (p.Glu704Gly) c.1919A>G (p.Glu640Gly) | |
| 1 | g.209623866T>G | CA344588710 | LAMB3 | c.2111A>C (p.Glu704Ala) c.1919A>C (p.Glu640Ala) | |
| 1 | g.209623867C>A | CA344588711 | LAMB3 | c.2110G>T (p.Glu704Ter) c.1918G>T (p.Glu640Ter) | |
| 1 | g.209623867C= | CA2484298417 | LAMB3 | c.2110G= (p.Glu704=) c.1918G= (p.Glu640=) | |
| 1 | g.209623867C>G | CA1375382 | LAMB3 | c.2110G>C (p.Glu704Gln) c.1918G>C (p.Glu640Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623867C>T | CA344588712 | LAMB3 | c.2110G>A (p.Glu704Lys) c.1918G>A (p.Glu640Lys) | gnomAD v4 |
| 1 | g.209623868A>C | CA344588713 | LAMB3 | c.2109T>G (p.Phe703Leu) c.1917T>G (p.Phe639Leu) | gnomAD v4 |
| 1 | g.209623868A>G | CA423142184 | LAMB3 | c.2109T>C (p.Phe703=) c.1917T>C (p.Phe639=) | ClinVar |
| 1 | g.209623868A>T | CA344588714 | LAMB3 | c.2109T>A (p.Phe703Leu) c.1917T>A (p.Phe639Leu) | |
| 1 | g.209623869A= | CA2484298418 | LAMB3 | c.2108T= (p.Phe703=) c.1916T= (p.Phe639=) | |
| 1 | g.209623869A>C | CA344588715 | LAMB3 | c.2108T>G (p.Phe703Cys) c.1916T>G (p.Phe639Cys) | |
| 1 | g.209623869A>G | CA1375383 | LAMB3 | c.2108T>C (p.Phe703Ser) c.1916T>C (p.Phe639Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623869A>T | CA344588716 | LAMB3 | c.2108T>A (p.Phe703Tyr) c.1916T>A (p.Phe639Tyr) | |
| 1 | g.209623870A>C | CA344588717 | LAMB3 | c.2107T>G (p.Phe703Val) c.1915T>G (p.Phe639Val) | |
| 1 | g.209623870A>G | CA344588718 | LAMB3 | c.2107T>C (p.Phe703Leu) c.1915T>C (p.Phe639Leu) | |
| 1 | g.209623870A>T | CA344588719 | LAMB3 | c.2107T>A (p.Phe703Ile) c.1915T>A (p.Phe639Ile) | |
| 1 | g.209623871del | CA2586964548 | LAMB3 | c.2106del (p.Gln702HisfsTer5) c.1914del (p.Gln638HisfsTer5) | |
| 1 | g.209623871C>A | CA344588720 | LAMB3 | c.2106G>T (p.Gln702His) c.1914G>T (p.Gln638His) | |
| 1 | g.209623871C>G | CA344588721 | LAMB3 | c.2106G>C (p.Gln702His) c.1914G>C (p.Gln638His) | |
| 1 | g.209623871C>T | CA423142199 | LAMB3 | c.2106G>A (p.Gln702=) c.1914G>A (p.Gln638=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623873_209623879del | CA2573998099 | LAMB3 | c.2100_2106del (p.Arg700SerfsTer5) c.1908_1914del (p.Arg636SerfsTer5) | |
| 1 | g.209623872T>A | CA344588722 | LAMB3 | c.2105A>T (p.Gln702Leu) c.1913A>T (p.Gln638Leu) | |
| 1 | g.209623872T>C | CA344588723 | LAMB3 | c.2105A>G (p.Gln702Arg) c.1913A>G (p.Gln638Arg) | |
| 1 | g.209623872T>G | CA344588724 | LAMB3 | c.2105A>C (p.Gln702Pro) c.1913A>C (p.Gln638Pro) | |
| 1 | g.209623873G>A | CA344588727 | LAMB3 | c.2104C>T (p.Gln702Ter) c.1912C>T (p.Gln638Ter) | gnomAD v4 |
| 1 | g.209623873G>C | CA344588726 | LAMB3 | c.2104C>G (p.Gln702Glu) c.1912C>G (p.Gln638Glu) | |
| 1 | g.209623873G>T | CA344588725 | LAMB3 | c.2104C>A (p.Gln702Lys) c.1912C>A (p.Gln638Lys) | gnomAD v4 |
| 1 | g.209623874C>A | CA344588728 | LAMB3 | c.2103G>T (p.Glu701Asp) c.1911G>T (p.Glu637Asp) | |
| 1 | g.209623874C= | CA2484298419 | LAMB3 | c.2103G= (p.Glu701=) c.1911G= (p.Glu637=) | |
| 1 | g.209623874C>G | CA344588729 | LAMB3 | c.2103G>C (p.Glu701Asp) c.1911G>C (p.Glu637Asp) | |
| 1 | g.209623874C>T | CA423142205 | LAMB3 | c.2103G>A (p.Glu701=) c.1911G>A (p.Glu637=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623875T>A | CA344588730 | LAMB3 | c.2102A>T (p.Glu701Val) c.1910A>T (p.Glu637Val) | |
| 1 | g.209623875T>C | CA344588731 | LAMB3 | c.2102A>G (p.Glu701Gly) c.1910A>G (p.Glu637Gly) | |
| 1 | g.209623875T>G | CA344588732 | LAMB3 | c.2102A>C (p.Glu701Ala) c.1910A>C (p.Glu637Ala) | |
| 1 | g.209623876C>A | CA344588733 | LAMB3 | c.2101G>T (p.Glu701Ter) c.1909G>T (p.Glu637Ter) | |
| 1 | g.209623876C>G | CA344588734 | LAMB3 | c.2101G>C (p.Glu701Gln) c.1909G>C (p.Glu637Gln) | |
| 1 | g.209623876C>T | CA344588735 | LAMB3 | c.2101G>A (p.Glu701Lys) c.1909G>A (p.Glu637Lys) | COSMIC |
| 1 | g.209623877C>A | CA344588736 | LAMB3 | c.2100G>T (p.Arg700Ser) c.1908G>T (p.Arg636Ser) | |
| 1 | g.209623877C>G | CA344588737 | LAMB3 | c.2100G>C (p.Arg700Ser) c.1908G>C (p.Arg636Ser) | gnomAD v4 |
| 1 | g.209623877C>T | CA423142212 | LAMB3 | c.2100G>A (p.Arg700=) c.1908G>A (p.Arg636=) | COSMIC |
| 1 | g.209623877_209623888delinsT | CA2580061977 | LAMB3 | c.2089_2100delinsA (p.Gln697ArgfsTer4) c.1897_1908delinsA (p.Gln633ArgfsTer4) | ClinVar |
| 1 | g.209623878C>A | CA344588738 | LAMB3 | c.2099G>T (p.Arg700Met) c.1907G>T (p.Arg636Met) | |
| 1 | g.209623878C>G | CA344588739 | LAMB3 | c.2099G>C (p.Arg700Thr) c.1907G>C (p.Arg636Thr) | |
| 1 | g.209623878C>T | CA344588740 | LAMB3 | c.2099G>A (p.Arg700Lys) c.1907G>A (p.Arg636Lys) | |
| 1 | g.209623879T>A | CA344588741 | LAMB3 | c.2098A>T (p.Arg700Trp) c.1906A>T (p.Arg636Trp) | |
| 1 | g.209623879T>C | CA1375384 | LAMB3 | c.2098A>G (p.Arg700Gly) c.1906A>G (p.Arg636Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623879T>G | CA423142225 | LAMB3 | c.2098A>C (p.Arg700=) c.1906A>C (p.Arg636=) | |
| 1 | g.209623879T= | CA1144041457 | LAMB3 | c.2098A= (p.Arg700=) c.1906A= (p.Arg636=) | |
| 1 | g.209623880C>A | CA344588742 | LAMB3 | c.2097G>T (p.Lys699Asn) c.1905G>T (p.Lys635Asn) | |
| 1 | g.209623880C= | CA2484298420 | LAMB3 | c.2097G= (p.Lys699=) c.1905G= (p.Lys635=) | |
| 1 | g.209623880C>G | CA344588743 | LAMB3 | c.2097G>C (p.Lys699Asn) c.1905G>C (p.Lys635Asn) | dbSNP |
| 1 | g.209623880C>T | CA423142227 | LAMB3 | c.2097G>A (p.Lys699=) c.1905G>A (p.Lys635=) | |
| 1 | g.209623881T>A | CA344588744 | LAMB3 | c.2096A>T (p.Lys699Met) c.1904A>T (p.Lys635Met) | |
| 1 | g.209623881T>C | CA344588745 | LAMB3 | c.2096A>G (p.Lys699Arg) c.1904A>G (p.Lys635Arg) | |
| 1 | g.209623881T>G | CA344588746 | LAMB3 | c.2096A>C (p.Lys699Thr) c.1904A>C (p.Lys635Thr) | |
| 1 | g.209623882T>A | CA344588747 | LAMB3 | c.2095A>T (p.Lys699Ter) c.1903A>T (p.Lys635Ter) | COSMIC |
| 1 | g.209623882T>C | CA344588748 | LAMB3 | c.2095A>G (p.Lys699Glu) c.1903A>G (p.Lys635Glu) | |
| 1 | g.209623882T>G | CA344588749 | LAMB3 | c.2095A>C (p.Lys699Gln) c.1903A>C (p.Lys635Gln) | |
| 1 | g.209623883C>A | CA344588750 | LAMB3 | c.2094G>T (p.Arg698Ser) c.1902G>T (p.Arg634Ser) | |
| 1 | g.209623883C= | CA1141483169 | LAMB3 | c.2094G= (p.Arg698=) c.1902G= (p.Arg634=) | |
| 1 | g.209623883C>G | CA344588751 | LAMB3 | c.2094G>C (p.Arg698Ser) c.1902G>C (p.Arg634Ser) | |
| 1 | g.209623883C>T | CA1375385 | LAMB3 | c.2094G>A (p.Arg698=) c.1902G>A (p.Arg634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623884C>A | CA344588754 | LAMB3 | c.2093G>T (p.Arg698Met) c.1901G>T (p.Arg634Met) | |
| 1 | g.209623884C>G | CA344588753 | LAMB3 | c.2093G>C (p.Arg698Thr) c.1901G>C (p.Arg634Thr) | |
| 1 | g.209623884C>T | CA344588752 | LAMB3 | c.2093G>A (p.Arg698Lys) c.1901G>A (p.Arg634Lys) | gnomAD v4 |
| 1 | g.209623885T>A | CA344588755 | LAMB3 | c.2092A>T (p.Arg698Trp) c.1900A>T (p.Arg634Trp) | |
| 1 | g.209623885T>C | CA344588756 | LAMB3 | c.2092A>G (p.Arg698Gly) c.1900A>G (p.Arg634Gly) | |
| 1 | g.209623885T>G | CA423142251 | LAMB3 | c.2092A>C (p.Arg698=) c.1900A>C (p.Arg634=) | |
| 1 | g.209623886C>A | CA344588757 | LAMB3 | c.2091G>T (p.Gln697His) c.1899G>T (p.Gln633His) | |
| 1 | g.209623886C>G | CA344588758 | LAMB3 | c.2091G>C (p.Gln697His) c.1899G>C (p.Gln633His) | dbSNP |
| 1 | g.209623886C>T | CA423142252 | LAMB3 | c.2091G>A (p.Gln697=) c.1899G>A (p.Gln633=) | COSMIC |
| 1 | g.209623887T>A | CA344588759 | LAMB3 | c.2090A>T (p.Gln697Leu) c.1898A>T (p.Gln633Leu) | |
| 1 | g.209623887T>C | CA344588760 | LAMB3 | c.2090A>G (p.Gln697Arg) c.1898A>G (p.Gln633Arg) | |
| 1 | g.209623887T>G | CA344588761 | LAMB3 | c.2090A>C (p.Gln697Pro) c.1898A>C (p.Gln633Pro) | |
| 1 | g.209623888G>A | CA344588762 | LAMB3 | c.2089C>T (p.Gln697Ter) c.1897C>T (p.Gln633Ter) | |
| 1 | g.209623888G>C | CA344588763 | LAMB3 | c.2089C>G (p.Gln697Glu) c.1897C>G (p.Gln633Glu) | |
| 1 | g.209623888G>T | CA344588764 | LAMB3 | c.2089C>A (p.Gln697Lys) c.1897C>A (p.Gln633Lys) | |
| 1 | g.209623889A= | CA2484298421 | LAMB3 | c.2088T= (p.Tyr696=) c.1896T= (p.Tyr632=) | |
| 1 | g.209623889A>C | CA344588765 | LAMB3 | c.2088T>G (p.Tyr696Ter) c.1896T>G (p.Tyr632Ter) | |
| 1 | g.209623889A>G | CA423142262 | LAMB3 | c.2088T>C (p.Tyr696=) c.1896T>C (p.Tyr632=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623889A>T | CA344588766 | LAMB3 | c.2088T>A (p.Tyr696Ter) c.1896T>A (p.Tyr632Ter) | |
| 1 | g.209623890T>A | CA344588767 | LAMB3 | c.2087A>T (p.Tyr696Phe) c.1895A>T (p.Tyr632Phe) | |
| 1 | g.209623890T>C | CA344588768 | LAMB3 | c.2087A>G (p.Tyr696Cys) c.1895A>G (p.Tyr632Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623890T>G | CA344588769 | LAMB3 | c.2087A>C (p.Tyr696Ser) c.1895A>C (p.Tyr632Ser) | |
| 1 | g.209623890T= | CA2484298422 | LAMB3 | c.2087A= (p.Tyr696=) c.1895A= (p.Tyr632=) | |
| 1 | g.209623891A>C | CA344588770 | LAMB3 | c.2086T>G (p.Tyr696Asp) c.1894T>G (p.Tyr632Asp) | gnomAD v4 |
| 1 | g.209623891A>G | CA344588772 | LAMB3 | c.2086T>C (p.Tyr696His) c.1894T>C (p.Tyr632His) | |
| 1 | g.209623891A>T | CA344588771 | LAMB3 | c.2086T>A (p.Tyr696Asn) c.1894T>A (p.Tyr632Asn) | |
| 1 | g.209623892C>A | CA344588773 | LAMB3 | c.2085G>T (p.Met695Ile) c.1893G>T (p.Met631Ile) | |
| 1 | g.209623892C= | CA2484298423 | LAMB3 | c.2085G= (p.Met695=) c.1893G= (p.Met631=) | |
| 1 | g.209623892C>G | CA344588774 | LAMB3 | c.2085G>C (p.Met695Ile) c.1893G>C (p.Met631Ile) | |
| 1 | g.209623892C>T | CA1375386 | LAMB3 | c.2085G>A (p.Met695Ile) c.1893G>A (p.Met631Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623893A= | CA2484298424 | LAMB3 | c.2084T= (p.Met695=) c.1892T= (p.Met631=) | |
| 1 | g.209623893A>C | CA344588775 | LAMB3 | c.2084T>G (p.Met695Arg) c.1892T>G (p.Met631Arg) | gnomAD v4 |
| 1 | g.209623893A>G | CA1375387 | LAMB3 | c.2084T>C (p.Met695Thr) c.1892T>C (p.Met631Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623893A>T | CA344588776 | LAMB3 | c.2084T>A (p.Met695Lys) c.1892T>A (p.Met631Lys) | |
| 1 | g.209623894T>A | CA344588777 | LAMB3 | c.2083A>T (p.Met695Leu) c.1891A>T (p.Met631Leu) | |
| 1 | g.209623894T>C | CA36752867 | LAMB3 | c.2083A>G (p.Met695Val) c.1891A>G (p.Met631Val) | dbSNP gnomAD v4 |
| 1 | g.209623894T>G | CA344588778 | LAMB3 | c.2083A>C (p.Met695Leu) c.1891A>C (p.Met631Leu) | |
| 1 | g.209623894T= | CA1141355669 | LAMB3 | c.2083A= (p.Met695=) c.1891A= (p.Met631=) | |
| 1 | g.209623895A= | CA2484298425 | LAMB3 | c.2082T= (p.Thr694=) c.1890T= (p.Thr630=) | |
| 1 | g.209623895A>C | CA423142278 | LAMB3 | c.2082T>G (p.Thr694=) c.1890T>G (p.Thr630=) | |
| 1 | g.209623895A>G | CA1375388 | LAMB3 | c.2082T>C (p.Thr694=) c.1890T>C (p.Thr630=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623895A>T | CA423142279 | LAMB3 | c.2082T>A (p.Thr694=) c.1890T>A (p.Thr630=) | |
| 1 | g.209623896G>A | CA344588781 | LAMB3 | c.2081C>T (p.Thr694Ile) c.1889C>T (p.Thr630Ile) | |
| 1 | g.209623896G>C | CA344588780 | LAMB3 | c.2081C>G (p.Thr694Ser) c.1889C>G (p.Thr630Ser) | ClinVar |
| 1 | g.209623896G>T | CA344588779 | LAMB3 | c.2081C>A (p.Thr694Asn) c.1889C>A (p.Thr630Asn) | |
| 1 | g.209623897T>A | CA344588782 | LAMB3 | c.2080A>T (p.Thr694Ser) c.1888A>T (p.Thr630Ser) | gnomAD v4 |
| 1 | g.209623897T>C | CA344588783 | LAMB3 | c.2080A>G (p.Thr694Ala) c.1888A>G (p.Thr630Ala) | gnomAD v4 |
| 1 | g.209623897T>G | CA344588784 | LAMB3 | c.2080A>C (p.Thr694Pro) c.1888A>C (p.Thr630Pro) | |
| 1 | g.209623898A>C | CA423142293 | LAMB3 | c.2079T>G (p.Leu693=) c.1887T>G (p.Leu629=) | |
| 1 | g.209623898A>G | CA423142296 | LAMB3 | c.2079T>C (p.Leu693=) c.1887T>C (p.Leu629=) | |
| 1 | g.209623898A>T | CA423142298 | LAMB3 | c.2079T>A (p.Leu693=) c.1887T>A (p.Leu629=) | |
| 1 | g.209623899A= | CA2484298426 | LAMB3 | c.2078T= (p.Leu693=) c.1886T= (p.Leu629=) | |
| 1 | g.209623899A>C | CA344588785 | LAMB3 | c.2078T>G (p.Leu693Arg) c.1886T>G (p.Leu629Arg) | |
| 1 | g.209623899A>G | CA344588786 | LAMB3 | c.2078T>C (p.Leu693Pro) c.1886T>C (p.Leu629Pro) | |
| 1 | g.209623899A>T | CA344588787 | LAMB3 | c.2078T>A (p.Leu693His) c.1886T>A (p.Leu629His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623900G>A | CA344588788 | LAMB3 | c.2077C>T (p.Leu693Phe) c.1885C>T (p.Leu629Phe) | |
| 1 | g.209623900G>C | CA344588789 | LAMB3 | c.2077C>G (p.Leu693Val) c.1885C>G (p.Leu629Val) | |
| 1 | g.209623900G>T | CA344588790 | LAMB3 | c.2077C>A (p.Leu693Ile) c.1885C>A (p.Leu629Ile) | |
| 1 | g.209623901G>A | CA1375389 | LAMB3 | c.2076C>T (p.Leu692=) c.1884C>T (p.Leu628=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623901G>C | CA423142305 | LAMB3 | c.2076C>G (p.Leu692=) c.1884C>G (p.Leu628=) | ClinVar dbSNP |
| 1 | g.209623901G= | CA1141731162 | LAMB3 | c.2076C= (p.Leu692=) c.1884C= (p.Leu628=) | |
| 1 | g.209623901G>T | CA423142300 | LAMB3 | c.2076C>A (p.Leu692=) c.1884C>A (p.Leu628=) | |
| 1 | g.209623902A>C | CA344588791 | LAMB3 | c.2075T>G (p.Leu692Arg) c.1883T>G (p.Leu628Arg) | |
| 1 | g.209623902A>G | CA344588792 | LAMB3 | c.2075T>C (p.Leu692Pro) c.1883T>C (p.Leu628Pro) | |
| 1 | g.209623902A>T | CA344588793 | LAMB3 | c.2075T>A (p.Leu692His) c.1883T>A (p.Leu628His) | |
| 1 | g.209623903G>A | CA344588794 | LAMB3 | c.2074C>T (p.Leu692Phe) c.1882C>T (p.Leu628Phe) | |
| 1 | g.209623903G>C | CA344588796 | LAMB3 | c.2074C>G (p.Leu692Val) c.1882C>G (p.Leu628Val) | |
| 1 | g.209623903G>T | CA344588795 | LAMB3 | c.2074C>A (p.Leu692Ile) c.1882C>A (p.Leu628Ile) | |
| 1 | g.209623904A>C | CA423142323 | LAMB3 | c.2073T>G (p.Gly691=) c.1881T>G (p.Gly627=) | |
| 1 | g.209623904A>G | CA423142316 | LAMB3 | c.2073T>C (p.Gly691=) c.1881T>C (p.Gly627=) | COSMIC |
| 1 | g.209623904A>T | CA423142314 | LAMB3 | c.2073T>A (p.Gly691=) c.1881T>A (p.Gly627=) | |
| 1 | g.209623905C>A | CA344588797 | LAMB3 | c.2072G>T (p.Gly691Val) c.1880G>T (p.Gly627Val) | |
| 1 | g.209623905C= | CA2484298427 | LAMB3 | c.2072G= (p.Gly691=) c.1880G= (p.Gly627=) | |
| 1 | g.209623905C>G | CA344588798 | LAMB3 | c.2072G>C (p.Gly691Ala) c.1880G>C (p.Gly627Ala) | |
| 1 | g.209623905C>T | CA1375390 | LAMB3 | c.2072G>A (p.Gly691Asp) c.1880G>A (p.Gly627Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209623906C>A | CA344588799 | LAMB3 | c.2071G>T (p.Gly691Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
| 1 | g.209623906C= | CA1141998374 | LAMB3 | c.2071G= (p.Gly691=) c.1879G= (p.Gly627=) | |
| 1 | g.209623906C>G | CA344588800 | LAMB3 | c.2071G>C (p.Gly691Arg) c.1879G>C (p.Gly627Arg) | |
| 1 | g.209623906C>T | CA1375391 | LAMB3 | c.2071G>A (p.Gly691Ser) c.1879G>A (p.Gly627Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623907A= | CA2484298428 | LAMB3 | c.2070T= (p.Asn690=) c.1878T= (p.Asn626=) | |
| 1 | g.209623907A>C | CA344588801 | LAMB3 | c.2070T>G (p.Asn690Lys) c.1878T>G (p.Asn626Lys) | |
| 1 | g.209623907A>G | CA423142343 | LAMB3 | c.2070T>C (p.Asn690=) c.1878T>C (p.Asn626=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623907A>T | CA344588802 | LAMB3 | c.2070T>A (p.Asn690Lys) c.1878T>A (p.Asn626Lys) | |
| 1 | g.209623908T>A | CA344588803 | LAMB3 | c.2069A>T (p.Asn690Ile) c.1877A>T (p.Asn626Ile) | |
| 1 | g.209623908T>C | CA1375392 | LAMB3 | c.2069A>G (p.Asn690Ser) c.1877A>G (p.Asn626Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623908T>G | CA344588804 | LAMB3 | c.2069A>C (p.Asn690Thr) c.1877A>C (p.Asn626Thr) | dbSNP |
| 1 | g.209623908T= | CA1139922145 | LAMB3 | c.2069A= (p.Asn690=) c.1877A= (p.Asn626=) | |
| 1 | g.209623909T>A | CA344588806 | LAMB3 | c.2068A>T (p.Asn690Tyr) c.1876A>T (p.Asn626Tyr) | |
| 1 | g.209623909T>C | CA344588807 | LAMB3 | c.2068A>G (p.Asn690Asp) c.1876A>G (p.Asn626Asp) | |
| 1 | g.209623909T>G | CA344588805 | LAMB3 | c.2068A>C (p.Asn690His) c.1876A>C (p.Asn626His) | |
| 1 | g.209623910G>A | CA423142349 | LAMB3 | c.2067C>T (p.Phe689=) c.1875C>T (p.Phe625=) | |
| 1 | g.209623910G>C | CA344588809 | LAMB3 | c.2067C>G (p.Phe689Leu) c.1875C>G (p.Phe625Leu) | |
| 1 | g.209623910G>T | CA344588808 | LAMB3 | c.2067C>A (p.Phe689Leu) c.1875C>A (p.Phe625Leu) | |
| 1 | g.209623911A= | CA1142286285 | LAMB3 | c.2066T= (p.Phe689=) c.1874T= (p.Phe625=) | |
| 1 | g.209623911A>C | CA344588810 | LAMB3 | c.2066T>G (p.Phe689Cys) c.1874T>G (p.Phe625Cys) | |
| 1 | g.209623911A>G | CA1375393 | LAMB3 | c.2066T>C (p.Phe689Ser) c.1874T>C (p.Phe625Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623911A>T | CA344588811 | LAMB3 | c.2066T>A (p.Phe689Tyr) c.1874T>A (p.Phe625Tyr) | |
| 1 | g.209623912A>C | CA344588812 | LAMB3 | c.2065T>G (p.Phe689Val) c.1873T>G (p.Phe625Val) | |
| 1 | g.209623912A>G | CA344588813 | LAMB3 | c.2065T>C (p.Phe689Leu) c.1873T>C (p.Phe625Leu) | |
| 1 | g.209623912A>T | CA344588814 | LAMB3 | c.2065T>A (p.Phe689Ile) c.1873T>A (p.Phe625Ile) | |
| 1 | g.209623913G>A | CA423142359 | LAMB3 | c.2064C>T (p.Ser688=) c.1872C>T (p.Ser624=) | gnomAD v4 |
| 1 | g.209623913G>C | CA344588815 | LAMB3 | c.2064C>G (p.Ser688Arg) c.1872C>G (p.Ser624Arg) | |
| 1 | g.209623913G>T | CA344588816 | LAMB3 | c.2064C>A (p.Ser688Arg) c.1872C>A (p.Ser624Arg) | |
| 1 | g.209623914C>A | CA344588817 | LAMB3 | c.2063G>T (p.Ser688Ile) c.1871G>T (p.Ser624Ile) | |
| 1 | g.209623914C= | CA1146103806 | LAMB3 | c.2063G= (p.Ser688=) c.1871G= (p.Ser624=) | |
| 1 | g.209623914C>G | CA344588818 | LAMB3 | c.2063G>C (p.Ser688Thr) c.1871G>C (p.Ser624Thr) | |
| 1 | g.209623914C>T | CA1375394 | LAMB3 | c.2063G>A (p.Ser688Asn) c.1871G>A (p.Ser624Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623915T>A | CA344588819 | LAMB3 | c.2062A>T (p.Ser688Cys) c.1870A>T (p.Ser624Cys) | |
| 1 | g.209623915T>C | CA344588820 | LAMB3 | c.2062A>G (p.Ser688Gly) c.1870A>G (p.Ser624Gly) | |
| 1 | g.209623915T>G | CA344588821 | LAMB3 | c.2062A>C (p.Ser688Arg) c.1870A>C (p.Ser624Arg) | |
| 1 | g.209623916T>A | CA344588822 | LAMB3 | c.2061A>T (p.Arg687Ser) c.1869A>T (p.Arg623Ser) | |
| 1 | g.209623916T>C | CA423142370 | LAMB3 | c.2061A>G (p.Arg687=) c.1869A>G (p.Arg623=) | |
| 1 | g.209623916T>G | CA344588823 | LAMB3 | c.2061A>C (p.Arg687Ser) c.1869A>C (p.Arg623Ser) | |
| 1 | g.209623917C>A | CA344588824 | LAMB3 | c.2060G>T (p.Arg687Ile) c.1868G>T (p.Arg623Ile) | dbSNP gnomAD v2 |
| 1 | g.209623917C= | CA2484298429 | LAMB3 | c.2060G= (p.Arg687=) c.1868G= (p.Arg623=) | |
| 1 | g.209623917C>G | CA344588825 | LAMB3 | c.2060G>C (p.Arg687Thr) c.1868G>C (p.Arg623Thr) | |
| 1 | g.209623917C>T | CA344588826 | LAMB3 | c.2060G>A (p.Arg687Lys) c.1868G>A (p.Arg623Lys) | |
| 1 | g.209623918T>A | CA344588827 | LAMB3 | c.2059A>T (p.Arg687Ter) c.1867A>T (p.Arg623Ter) | |
| 1 | g.209623918T>C | CA344588828 | LAMB3 | c.2059A>G (p.Arg687Gly) c.1867A>G (p.Arg623Gly) | gnomAD v4 |
| 1 | g.209623918T>G | CA423142372 | LAMB3 | c.2059A>C (p.Arg687=) c.1867A>C (p.Arg623=) | ClinVar |
| 1 | g.209623919G>A | CA423142374 | LAMB3 | c.2058C>T (p.Asp686=) c.1866C>T (p.Asp622=) | COSMIC |
| 1 | g.209623919G>C | CA344588829 | LAMB3 | c.2058C>G (p.Asp686Glu) c.1866C>G (p.Asp622Glu) | gnomAD v4 |
| 1 | g.209623919G>T | CA344588830 | LAMB3 | c.2058C>A (p.Asp686Glu) c.1866C>A (p.Asp622Glu) | dbSNP |
| 1 | g.209623920T>A | CA344588831 | LAMB3 | c.2057A>T (p.Asp686Val) c.1865A>T (p.Asp622Val) | |
| 1 | g.209623920T>C | CA344588832 | LAMB3 | c.2057A>G (p.Asp686Gly) c.1865A>G (p.Asp622Gly) | gnomAD v4 |
| 1 | g.209623920T>G | CA344588833 | LAMB3 | c.2057A>C (p.Asp686Ala) c.1865A>C (p.Asp622Ala) | |
| 1 | g.209623921C>A | CA344588834 | LAMB3 | c.2056G>T (p.Asp686Tyr) c.1864G>T (p.Asp622Tyr) | |
| 1 | g.209623921C>G | CA344588835 | LAMB3 | c.2056G>C (p.Asp686His) c.1864G>C (p.Asp622His) | |
| 1 | g.209623921C>T | CA344588836 | LAMB3 | c.2056G>A (p.Asp686Asn) c.1864G>A (p.Asp622Asn) | |
| 1 | g.209623922A>C | CA423142385 | LAMB3 | c.2055T>G (p.Leu685=) c.1863T>G (p.Leu621=) | dbSNP |
| 1 | g.209623922A>G | CA423142391 | LAMB3 | c.2055T>C (p.Leu685=) c.1863T>C (p.Leu621=) | |
| 1 | g.209623922A>T | CA423142388 | LAMB3 | c.2055T>A (p.Leu685=) c.1863T>A (p.Leu621=) | |
| 1 | g.209623923A= | CA2484298430 | LAMB3 | c.2054T= (p.Leu685=) c.1862T= (p.Leu621=) | |
| 1 | g.209623923A>C | CA344588837 | LAMB3 | c.2054T>G (p.Leu685Arg) c.1862T>G (p.Leu621Arg) | dbSNP |
| 1 | g.209623923A>G | CA344588839 | LAMB3 | c.2054T>C (p.Leu685Pro) c.1862T>C (p.Leu621Pro) | |
| 1 | g.209623923A>T | CA344588838 | LAMB3 | c.2054T>A (p.Leu685His) c.1862T>A (p.Leu621His) | |
| 1 | g.209623924G>A | CA344588840 | LAMB3 | c.2053C>T (p.Leu685Phe) c.1861C>T (p.Leu621Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623924G>C | CA344588841 | LAMB3 | c.2053C>G (p.Leu685Val) c.1861C>G (p.Leu621Val) | |
| 1 | g.209623924G= | CA2484298431 | LAMB3 | c.2053C= (p.Leu685=) c.1861C= (p.Leu621=) | |
| 1 | g.209623924G>T | CA344588842 | LAMB3 | c.2053C>A (p.Leu685Ile) c.1861C>A (p.Leu621Ile) | |
| 1 | g.209623925A>C | CA344588843 | LAMB3 | c.2052T>G (p.Ser684Arg) c.1860T>G (p.Ser620Arg) | |
| 1 | g.209623925A>G | CA423142400 | LAMB3 | c.2052T>C (p.Ser684=) c.1860T>C (p.Ser620=) | gnomAD v4 |
| 1 | g.209623925A>T | CA344588844 | LAMB3 | c.2052T>A (p.Ser684Arg) c.1860T>A (p.Ser620Arg) | |
| 1 | g.209623926C>A | CA344588845 | LAMB3 | c.2051G>T (p.Ser684Ile) c.1859G>T (p.Ser620Ile) | |
| 1 | g.209623926C= | CA2484298432 | LAMB3 | c.2051G= (p.Ser684=) c.1859G= (p.Ser620=) | |
| 1 | g.209623926C>G | CA344588846 | LAMB3 | c.2051G>C (p.Ser684Thr) c.1859G>C (p.Ser620Thr) | |
| 1 | g.209623926C>T | CA1375395 | LAMB3 | c.2051G>A (p.Ser684Asn) c.1859G>A (p.Ser620Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623927T>A | CA344588847 | LAMB3 | c.2050A>T (p.Ser684Cys) c.1858A>T (p.Ser620Cys) | |
| 1 | g.209623927T>C | CA344588848 | LAMB3 | c.2050A>G (p.Ser684Gly) c.1858A>G (p.Ser620Gly) | dbSNP gnomAD v4 |
| 1 | g.209623927T>G | CA344588849 | LAMB3 | c.2050A>C (p.Ser684Arg) c.1858A>C (p.Ser620Arg) | gnomAD v4 |
| 1 | g.209623927T= | CA2484298433 | LAMB3 | c.2050A= (p.Ser684=) c.1858A= (p.Ser620=) | |
| 1 | g.209623928C>A | CA344588850 | LAMB3 | c.2049G>T (p.Glu683Asp) c.1857G>T (p.Glu619Asp) | |
| 1 | g.209623928C>G | CA344588851 | LAMB3 | c.2049G>C (p.Glu683Asp) c.1857G>C (p.Glu619Asp) | |
| 1 | g.209623928C>T | CA423142408 | LAMB3 | c.2049G>A (p.Glu683=) c.1857G>A (p.Glu619=) | ClinVar |
| 1 | g.209623929T>A | CA344588852 | LAMB3 | c.2048A>T (p.Glu683Val) c.1856A>T (p.Glu619Val) | |
| 1 | g.209623929T>C | CA344588854 | LAMB3 | c.2048A>G (p.Glu683Gly) c.1856A>G (p.Glu619Gly) | gnomAD v4 |
| 1 | g.209623929T>G | CA344588853 | LAMB3 | c.2048A>C (p.Glu683Ala) c.1856A>C (p.Glu619Ala) | |
| 1 | g.209623929_209623930delinsTC | CA2484298434 | LAMB3 | c.2047_2048delinsGA (p.Glu683=) c.1855_1856delinsGA (p.Glu619=) | |
| 1 | g.209623930C>A | CA344588855 | LAMB3 | c.2047G>T (p.Glu683Ter) c.1855G>T (p.Glu619Ter) | |
| 1 | g.209623930C>G | CA344588856 | LAMB3 | c.2047G>C (p.Glu683Gln) c.1855G>C (p.Glu619Gln) | |
| 1 | g.209623930C>T | CA344588857 | LAMB3 | c.2047G>A (p.Glu683Lys) c.1855G>A (p.Glu619Lys) | |
| 1 | g.209623931del | CA2484298435 | LAMB3 | c.2047del (p.Glu683ArgfsTer24) c.1855del (p.Glu619ArgfsTer24) | ClinVar dbSNP |
| 1 | g.209623931C>A | CA423142417 | LAMB3 | c.2046G>T (p.Leu682=) c.1854G>T (p.Leu618=) | |
| 1 | g.209623931C= | CA2484298436 | LAMB3 | c.2046G= (p.Leu682=) c.1854G= (p.Leu618=) | |
| 1 | g.209623931C>G | CA423142418 | LAMB3 | c.2046G>C (p.Leu682=) c.1854G>C (p.Leu618=) | |
| 1 | g.209623931C>T | CA423142419 | LAMB3 | c.2046G>A (p.Leu682=) c.1854G>A (p.Leu618=) | dbSNP gnomAD v2 |
| 1 | g.209623932A>C | CA344588858 | LAMB3 | c.2045T>G (p.Leu682Arg) c.1853T>G (p.Leu618Arg) | |
| 1 | g.209623932A>G | CA344588859 | LAMB3 | c.2045T>C (p.Leu682Pro) c.1853T>C (p.Leu618Pro) | |
| 1 | g.209623932A>T | CA344588860 | LAMB3 | c.2045T>A (p.Leu682Gln) c.1853T>A (p.Leu618Gln) | |
| 1 | g.209623933G>A | CA423142420 | LAMB3 | c.2044C>T (p.Leu682=) c.1852C>T (p.Leu618=) | gnomAD v4 |
| 1 | g.209623933G>C | CA344588861 | LAMB3 | c.2044C>G (p.Leu682Val) c.1852C>G (p.Leu618Val) | |
| 1 | g.209623933G>T | CA344588862 | LAMB3 | c.2044C>A (p.Leu682Met) c.1852C>A (p.Leu618Met) | |
| 1 | g.209623934G>A | CA423142424 | LAMB3 | c.2043C>T (p.Asp681=) c.1851C>T (p.Asp617=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623934G>C | CA344588863 | LAMB3 | c.2043C>G (p.Asp681Glu) c.1851C>G (p.Asp617Glu) | |
| 1 | g.209623934G= | CA2484298437 | LAMB3 | c.2043C= (p.Asp681=) c.1851C= (p.Asp617=) | |
| 1 | g.209623934G>T | CA344588864 | LAMB3 | c.2043C>A (p.Asp681Glu) c.1851C>A (p.Asp617Glu) | |
| 1 | g.209623935T>A | CA344588867 | LAMB3 | c.2042A>T (p.Asp681Val) c.1850A>T (p.Asp617Val) | |
| 1 | g.209623935T>C | CA344588866 | LAMB3 | c.2042A>G (p.Asp681Gly) c.1850A>G (p.Asp617Gly) | |
| 1 | g.209623935T>G | CA344588865 | LAMB3 | c.2042A>C (p.Asp681Ala) c.1850A>C (p.Asp617Ala) |