Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209625694_209625695del | CA2586964552 | LAMB3 | c.1931_1932del (p.Thr644ArgfsTer?) c.1739_1740del (p.Thr580ArgfsTer?) | |
1 | g.209625695G>A | CA423142566 | LAMB3 | c.1929C>T (p.Val643=) c.1737C>T (p.Val579=) | |
1 | g.209625695G>C | CA423142567 | LAMB3 | c.1929C>G (p.Val643=) c.1737C>G (p.Val579=) | |
1 | g.209625695G= | CA2484299200 | LAMB3 | c.1929C= (p.Val643=) c.1737C= (p.Val579=) | |
1 | g.209625695G>T | CA423142565 | LAMB3 | c.1929C>A (p.Val643=) c.1737C>A (p.Val579=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625696A>C | CA344589115 | LAMB3 | c.1928T>G (p.Val643Gly) c.1736T>G (p.Val579Gly) | |
1 | g.209625696A>G | CA344589116 | LAMB3 | c.1928T>C (p.Val643Ala) c.1736T>C (p.Val579Ala) | |
1 | g.209625696A>T | CA344589117 | LAMB3 | c.1928T>A (p.Val643Asp) c.1736T>A (p.Val579Asp) | |
1 | g.209625697C>A | CA344589118 | LAMB3 | c.1927G>T (p.Val643Phe) c.1735G>T (p.Val579Phe) | |
1 | g.209625697C= | CA2484299201 | LAMB3 | c.1927G= (p.Val643=) c.1735G= (p.Val579=) | |
1 | g.209625697C>G | CA344589119 | LAMB3 | c.1927G>C (p.Val643Leu) c.1735G>C (p.Val579Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625697C>T | CA344589120 | LAMB3 | c.1927G>A (p.Val643Ile) c.1735G>A (p.Val579Ile) | gnomAD v4 COSMIC |
1 | g.209625698T>A | CA423142573 | LAMB3 | c.1926A>T (p.Ala642=) c.1734A>T (p.Ala578=) | |
1 | g.209625698T>C | CA423142571 | LAMB3 | c.1926A>G (p.Ala642=) c.1734A>G (p.Ala578=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625698T>G | CA423142572 | LAMB3 | c.1926A>C (p.Ala642=) c.1734A>C (p.Ala578=) | |
1 | g.209625698T= | CA2484299202 | LAMB3 | c.1926A= (p.Ala642=) c.1734A= (p.Ala578=) | |
1 | g.209625699G>A | CA36756209 | LAMB3 | c.1925C>T (p.Ala642Val) c.1733C>T (p.Ala578Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625699G>C | CA344589121 | LAMB3 | c.1925C>G (p.Ala642Gly) c.1733C>G (p.Ala578Gly) | |
1 | g.209625699G= | CA2484299203 | LAMB3 | c.1925C= (p.Ala642=) c.1733C= (p.Ala578=) | |
1 | g.209625699G>T | CA344589122 | LAMB3 | c.1925C>A (p.Ala642Glu) c.1733C>A (p.Ala578Glu) | gnomAD v4 |
1 | g.209625700C>A | CA344589123 | LAMB3 | c.1924G>T (p.Ala642Ser) c.1732G>T (p.Ala578Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625700C= | CA2484299204 | LAMB3 | c.1924G= (p.Ala642=) c.1732G= (p.Ala578=) | |
1 | g.209625700C>G | CA344589124 | LAMB3 | c.1924G>C (p.Ala642Pro) c.1732G>C (p.Ala578Pro) | |
1 | g.209625700C>T | CA1375427 | LAMB3 | c.1924G>A (p.Ala642Thr) c.1732G>A (p.Ala578Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625701G>A | CA1375428 | LAMB3 | c.1923C>T (p.Pro641=) c.1731C>T (p.Pro577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625701G>C | CA423142576 | LAMB3 | c.1923C>G (p.Pro641=) c.1731C>G (p.Pro577=) | |
1 | g.209625701G= | CA2484299205 | LAMB3 | c.1923C= (p.Pro641=) c.1731C= (p.Pro577=) | |
1 | g.209625701G>T | CA423142575 | LAMB3 | c.1923C>A (p.Pro641=) c.1731C>A (p.Pro577=) | |
1 | g.209625704del | CA2573051471 | LAMB3 | c.1923del (p.Ala642GlnfsTer?) c.1731del (p.Ala578GlnfsTer?) | dbSNP |
1 | g.209625702G>A | CA344589126 | LAMB3 | c.1922C>T (p.Pro641Leu) c.1730C>T (p.Pro577Leu) | COSMIC |
1 | g.209625702G>C | CA344589125 | LAMB3 | c.1922C>G (p.Pro641Arg) c.1730C>G (p.Pro577Arg) | |
1 | g.209625702G>T | CA344589127 | LAMB3 | c.1922C>A (p.Pro641His) c.1730C>A (p.Pro577His) | |
1 | g.209625703G>A | CA1375429 | LAMB3 | c.1921C>T (p.Pro641Ser) c.1729C>T (p.Pro577Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625703G>C | CA344589128 | LAMB3 | c.1921C>G (p.Pro641Ala) c.1729C>G (p.Pro577Ala) | |
1 | g.209625703G= | CA2484299206 | LAMB3 | c.1921C= (p.Pro641=) c.1729C= (p.Pro577=) | |
1 | g.209625703G>T | CA344589129 | LAMB3 | c.1921C>A (p.Pro641Thr) c.1729C>A (p.Pro577Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625704G>A | CA423142578 | LAMB3 | c.1920C>T (p.Ser640=) c.1728C>T (p.Ser576=) | |
1 | g.209625704G>C | CA344589130 | LAMB3 | c.1920C>G (p.Ser640Arg) c.1728C>G (p.Ser576Arg) | |
1 | g.209625704G= | CA2484299207 | LAMB3 | c.1920C= (p.Ser640=) c.1728C= (p.Ser576=) | |
1 | g.209625704G>T | CA344589131 | LAMB3 | c.1920C>A (p.Ser640Arg) c.1728C>A (p.Ser576Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625705C>A | CA344589132 | LAMB3 | c.1919G>T (p.Ser640Ile) c.1727G>T (p.Ser576Ile) | |
1 | g.209625705C= | CA2484299208 | LAMB3 | c.1919G= (p.Ser640=) c.1727G= (p.Ser576=) | |
1 | g.209625705C>G | CA344589133 | LAMB3 | c.1919G>C (p.Ser640Thr) c.1727G>C (p.Ser576Thr) | COSMIC |
1 | g.209625705C>T | CA344589134 | LAMB3 | c.1919G>A (p.Ser640Asn) c.1727G>A (p.Ser576Asn) | dbSNP |
1 | g.209625706T>A | CA344589135 | LAMB3 | c.1918A>T (p.Ser640Cys) c.1726A>T (p.Ser576Cys) | |
1 | g.209625706T>C | CA344589136 | LAMB3 | c.1918A>G (p.Ser640Gly) c.1726A>G (p.Ser576Gly) | dbSNP |
1 | g.209625706T>G | CA344589137 | LAMB3 | c.1918A>C (p.Ser640Arg) c.1726A>C (p.Ser576Arg) | |
1 | g.209625706T= | CA2484299209 | LAMB3 | c.1918A= (p.Ser640=) c.1726A= (p.Ser576=) | |
1 | g.209625707G>A | CA1375430 | LAMB3 | c.1917C>T (p.Ser639=) c.1725C>T (p.Ser575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625707G>C | CA344589139 | LAMB3 | c.1917C>G (p.Ser639Arg) c.1725C>G (p.Ser575Arg) | |
1 | g.209625707G= | CA2484299210 | LAMB3 | c.1917C= (p.Ser639=) c.1725C= (p.Ser575=) | |
1 | g.209625707G>T | CA344589138 | LAMB3 | c.1917C>A (p.Ser639Arg) c.1725C>A (p.Ser575Arg) | |
1 | g.209625708C>A | CA344589140 | LAMB3 | c.1916G>T (p.Ser639Ile) c.1724G>T (p.Ser575Ile) | |
1 | g.209625708C>G | CA344589141 | LAMB3 | c.1916G>C (p.Ser639Thr) c.1724G>C (p.Ser575Thr) | |
1 | g.209625708C>T | CA344589142 | LAMB3 | c.1916G>A (p.Ser639Asn) c.1724G>A (p.Ser575Asn) | |
1 | g.209625709T>A | CA344589143 | LAMB3 | c.1915A>T (p.Ser639Cys) c.1723A>T (p.Ser575Cys) | |
1 | g.209625709T>C | CA344589144 | LAMB3 | c.1915A>G (p.Ser639Gly) c.1723A>G (p.Ser575Gly) | gnomAD v4 |
1 | g.209625709T>G | CA344589145 | LAMB3 | c.1915A>C (p.Ser639Arg) c.1723A>C (p.Ser575Arg) | |
1 | g.209625710G>A | CA423142579 | LAMB3 | c.1914C>T (p.Leu638=) c.1722C>T (p.Leu574=) | |
1 | g.209625710G>C | CA423142580 | LAMB3 | c.1914C>G (p.Leu638=) c.1722C>G (p.Leu574=) | |
1 | g.209625710G>T | CA423142581 | LAMB3 | c.1914C>A (p.Leu638=) c.1722C>A (p.Leu574=) | |
1 | g.209625711A>C | CA344589146 | LAMB3 | c.1913T>G (p.Leu638Arg) c.1721T>G (p.Leu574Arg) | |
1 | g.209625711A>G | CA344589147 | LAMB3 | c.1913T>C (p.Leu638Pro) c.1721T>C (p.Leu574Pro) | |
1 | g.209625711A>T | CA344589148 | LAMB3 | c.1913T>A (p.Leu638His) c.1721T>A (p.Leu574His) | |
1 | g.209625712G>A | CA344589149 | LAMB3 | c.1912C>T (p.Leu638Phe) c.1720C>T (p.Leu574Phe) | |
1 | g.209625712G>C | CA344589150 | LAMB3 | c.1912C>G (p.Leu638Val) c.1720C>G (p.Leu574Val) | |
1 | g.209625712G>T | CA344589151 | LAMB3 | c.1912C>A (p.Leu638Ile) c.1720C>A (p.Leu574Ile) | |
1 | g.209625713A>C | CA423142582 | LAMB3 | c.1911T>G (p.Val637=) c.1719T>G (p.Val573=) | |
1 | g.209625713A>G | CA423142583 | LAMB3 | c.1911T>C (p.Val637=) c.1719T>C (p.Val573=) | |
1 | g.209625713A>T | CA423142584 | LAMB3 | c.1911T>A (p.Val637=) c.1719T>A (p.Val573=) | |
1 | g.209625714A= | CA2484299211 | LAMB3 | c.1910T= (p.Val637=) c.1718T= (p.Val573=) | |
1 | g.209625714A>C | CA344589153 | LAMB3 | c.1910T>G (p.Val637Gly) c.1718T>G (p.Val573Gly) | |
1 | g.209625714A>G | CA1375431 | LAMB3 | c.1910T>C (p.Val637Ala) c.1718T>C (p.Val573Ala) | dbSNP ExAC |
1 | g.209625714A>T | CA344589152 | LAMB3 | c.1910T>A (p.Val637Asp) c.1718T>A (p.Val573Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625715C>A | CA344589154 | LAMB3 | c.1909G>T (p.Val637Phe) c.1717G>T (p.Val573Phe) | |
1 | g.209625715C>G | CA344589155 | LAMB3 | c.1909G>C (p.Val637Leu) c.1717G>C (p.Val573Leu) | |
1 | g.209625715C>T | CA344589156 | LAMB3 | c.1909G>A (p.Val637Ile) c.1717G>A (p.Val573Ile) | |
1 | g.209625721_209625730del | CA2573130650 | LAMB3 | c.1900_1909del (p.Ile634PhefsTer?) c.1708_1717del (p.Ile570PhefsTer?) | ClinVar dbSNP |
1 | g.209625716T>A | CA423142585 | LAMB3 | c.1908A>T (p.Ala636=) c.1716A>T (p.Ala572=) | |
1 | g.209625716T>C | CA423142586 | LAMB3 | c.1908A>G (p.Ala636=) c.1716A>G (p.Ala572=) | |
1 | g.209625716T>G | CA423142587 | LAMB3 | c.1908A>C (p.Ala636=) c.1716A>C (p.Ala572=) | |
1 | g.209625717G>A | CA344589157 | LAMB3 | c.1907C>T (p.Ala636Val) c.1715C>T (p.Ala572Val) | |
1 | g.209625717G>C | CA344589158 | LAMB3 | c.1907C>G (p.Ala636Gly) c.1715C>G (p.Ala572Gly) | |
1 | g.209625717G>T | CA344589159 | LAMB3 | c.1907C>A (p.Ala636Glu) c.1715C>A (p.Ala572Glu) | |
1 | g.209625718C>A | CA344589160 | LAMB3 | c.1906G>T (p.Ala636Ser) c.1714G>T (p.Ala572Ser) | |
1 | g.209625718C= | CA2484299212 | LAMB3 | c.1906G= (p.Ala636=) c.1714G= (p.Ala572=) | |
1 | g.209625718C>G | CA344589161 | LAMB3 | c.1906G>C (p.Ala636Pro) c.1714G>C (p.Ala572Pro) | |
1 | g.209625718C>T | CA344589162 | LAMB3 | c.1906G>A (p.Ala636Thr) c.1714G>A (p.Ala572Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625719T>A | CA423142588 | LAMB3 | c.1905A>T (p.Arg635=) c.1713A>T (p.Arg571=) | |
1 | g.209625719T>C | CA423142589 | LAMB3 | c.1905A>G (p.Arg635=) c.1713A>G (p.Arg571=) | |
1 | g.209625719T>G | CA423142590 | LAMB3 | c.1905A>C (p.Arg635=) c.1713A>C (p.Arg571=) | |
1 | g.209625720C>A | CA344589163 | LAMB3 | c.1904G>T (p.Arg635Leu) c.1712G>T (p.Arg571Leu) | |
1 | g.209625720C= | CA2484299213 | LAMB3 | c.1904G= (p.Arg635=) c.1712G= (p.Arg571=) | |
1 | g.209625720C>G | CA344589164 | LAMB3 | c.1904G>C (p.Arg635Pro) c.1712G>C (p.Arg571Pro) | gnomAD v4 |
1 | g.209625720C>T | CA1375432 | LAMB3 | c.1904G>A (p.Arg635Gln) c.1712G>A (p.Arg571Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625721G>A | CA257272 | LAMB3 | c.1903C>T (p.Arg635Ter) c.1711C>T (p.Arg571Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625721G>C | CA344589165 | LAMB3 | c.1903C>G (p.Arg635Gly) c.1711C>G (p.Arg571Gly) | |
1 | g.209625721G= | CA1141188131 | LAMB3 | c.1903C= (p.Arg635=) c.1711C= (p.Arg571=) | |
1 | g.209625721G>T | CA423142591 | LAMB3 | c.1903C>A (p.Arg635=) c.1711C>A (p.Arg571=) | ClinVar |
1 | g.209625722G>A | CA423142592 | LAMB3 | c.1902C>T (p.Ile634=) c.1710C>T (p.Ile570=) | dbSNP |
1 | g.209625722G>C | CA344589166 | LAMB3 | c.1902C>G (p.Ile634Met) c.1710C>G (p.Ile570Met) | |
1 | g.209625722G= | CA2484299214 | LAMB3 | c.1902C= (p.Ile634=) c.1710C= (p.Ile570=) | |
1 | g.209625722G>T | CA423142593 | LAMB3 | c.1902C>A (p.Ile634=) c.1710C>A (p.Ile570=) | |
1 | g.209625723A>C | CA344589167 | LAMB3 | c.1901T>G (p.Ile634Ser) c.1709T>G (p.Ile570Ser) | |
1 | g.209625723A>G | CA344589168 | LAMB3 | c.1901T>C (p.Ile634Thr) c.1709T>C (p.Ile570Thr) | gnomAD v4 |
1 | g.209625723A>T | CA344589169 | LAMB3 | c.1901T>A (p.Ile634Asn) c.1709T>A (p.Ile570Asn) | |
1 | g.209625724T>A | CA344589170 | LAMB3 | c.1900A>T (p.Ile634Phe) c.1708A>T (p.Ile570Phe) | |
1 | g.209625724T>C | CA344589171 | LAMB3 | c.1900A>G (p.Ile634Val) c.1708A>G (p.Ile570Val) | |
1 | g.209625724T>G | CA344589172 | LAMB3 | c.1900A>C (p.Ile634Leu) c.1708A>C (p.Ile570Leu) | |
1 | g.209625725C>A | CA344589173 | LAMB3 | c.1899G>T (p.Gln633His) c.1707G>T (p.Gln569His) | |
1 | g.209625725C>G | CA344589174 | LAMB3 | c.1899G>C (p.Gln633His) c.1707G>C (p.Gln569His) | |
1 | g.209625725C>T | CA423142594 | LAMB3 | c.1899G>A (p.Gln633=) c.1707G>A (p.Gln569=) | COSMIC |
1 | g.209625726T>A | CA344589175 | LAMB3 | c.1898A>T (p.Gln633Leu) c.1706A>T (p.Gln569Leu) | |
1 | g.209625726T>C | CA344589176 | LAMB3 | c.1898A>G (p.Gln633Arg) c.1706A>G (p.Gln569Arg) | |
1 | g.209625726T>G | CA344589177 | LAMB3 | c.1898A>C (p.Gln633Pro) c.1706A>C (p.Gln569Pro) | |
1 | g.209625727G>A | CA344589178 | LAMB3 | c.1897C>T (p.Gln633Ter) c.1705C>T (p.Gln569Ter) | ClinVar dbSNP |
1 | g.209625727G>C | CA344589179 | LAMB3 | c.1897C>G (p.Gln633Glu) c.1705C>G (p.Gln569Glu) | |
1 | g.209625727G>T | CA344589180 | LAMB3 | c.1897C>A (p.Gln633Lys) c.1705C>A (p.Gln569Lys) | |
1 | g.209625728C>A | CA344589181 | LAMB3 | c.1896G>T (p.Glu632Asp) c.1704G>T (p.Glu568Asp) | |
1 | g.209625728C= | CA2484299215 | LAMB3 | c.1896G= (p.Glu632=) c.1704G= (p.Glu568=) | |
1 | g.209625728C>G | CA344589182 | LAMB3 | c.1896G>C (p.Glu632Asp) c.1704G>C (p.Glu568Asp) | |
1 | g.209625728C>T | CA1375433 | LAMB3 | c.1896G>A (p.Glu632=) c.1704G>A (p.Glu568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625729T>A | CA344589183 | LAMB3 | c.1895A>T (p.Glu632Val) c.1703A>T (p.Glu568Val) | |
1 | g.209625729T>C | CA344589184 | LAMB3 | c.1895A>G (p.Glu632Gly) c.1703A>G (p.Glu568Gly) | |
1 | g.209625729T>G | CA344589185 | LAMB3 | c.1895A>C (p.Glu632Ala) c.1703A>C (p.Glu568Ala) | dbSNP |
1 | g.209625729T= | CA2484299216 | LAMB3 | c.1895A= (p.Glu632=) c.1703A= (p.Glu568=) | |
1 | g.209625730C>A | CA344589186 | LAMB3 | c.1894G>T (p.Glu632Ter) c.1702G>T (p.Glu568Ter) | |
1 | g.209625730C>G | CA344589187 | LAMB3 | c.1894G>C (p.Glu632Gln) c.1702G>C (p.Glu568Gln) | |
1 | g.209625730C>T | CA344589188 | LAMB3 | c.1894G>A (p.Glu632Lys) c.1702G>A (p.Glu568Lys) | |
1 | g.209625731A= | CA2484299217 | LAMB3 | c.1893T= (p.Ile631=) c.1701T= (p.Ile567=) | |
1 | g.209625731A>C | CA36756227 | LAMB3 | c.1893T>G (p.Ile631Met) c.1701T>G (p.Ile567Met) | dbSNP |
1 | g.209625731A>G | CA423142595 | LAMB3 | c.1893T>C (p.Ile631=) c.1701T>C (p.Ile567=) | |
1 | g.209625731A>T | CA423142596 | LAMB3 | c.1893T>A (p.Ile631=) c.1701T>A (p.Ile567=) | |
1 | g.209625732A>C | CA344589191 | LAMB3 | c.1892T>G (p.Ile631Ser) c.1700T>G (p.Ile567Ser) | |
1 | g.209625732A>G | CA344589189 | LAMB3 | c.1892T>C (p.Ile631Thr) c.1700T>C (p.Ile567Thr) | |
1 | g.209625732A>T | CA344589190 | LAMB3 | c.1892T>A (p.Ile631Asn) c.1700T>A (p.Ile567Asn) | |
1 | g.209625733T>A | CA1375434 | LAMB3 | c.1891A>T (p.Ile631Phe) c.1699A>T (p.Ile567Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625733T>C | CA344589192 | LAMB3 | c.1891A>G (p.Ile631Val) c.1699A>G (p.Ile567Val) | |
1 | g.209625733T>G | CA344589193 | LAMB3 | c.1891A>C (p.Ile631Leu) c.1699A>C (p.Ile567Leu) | |
1 | g.209625733T= | CA1145573777 | LAMB3 | c.1891A= (p.Ile631=) c.1699A= (p.Ile567=) | |
1 | g.209625734C>A | CA344589194 | LAMB3 | c.1890G>T (p.Lys630Asn) c.1698G>T (p.Lys566Asn) | |
1 | g.209625734C>G | CA344589195 | LAMB3 | c.1890G>C (p.Lys630Asn) c.1698G>C (p.Lys566Asn) | |
1 | g.209625734C>T | CA423142597 | LAMB3 | c.1890G>A (p.Lys630=) c.1698G>A (p.Lys566=) | |
1 | g.209625735T>A | CA344589197 | LAMB3 | c.1889A>T (p.Lys630Met) c.1697A>T (p.Lys566Met) | |
1 | g.209625735T>C | CA1375435 | LAMB3 | c.1889A>G (p.Lys630Arg) c.1697A>G (p.Lys566Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625735T>G | CA344589196 | LAMB3 | c.1889A>C (p.Lys630Thr) c.1697A>C (p.Lys566Thr) | |
1 | g.209625735T= | CA2484299218 | LAMB3 | c.1889A= (p.Lys630=) c.1697A= (p.Lys566=) | |
1 | g.209625736del | CA2505006893 | LAMB3 | c.1889del (p.Lys630ArgfsTer?) c.1697del (p.Lys566ArgfsTer?) | |
1 | g.209625736T>A | CA344589198 | LAMB3 | c.1888A>T (p.Lys630Ter) c.1696A>T (p.Lys566Ter) | |
1 | g.209625736T>C | CA1375436 | LAMB3 | c.1888A>G (p.Lys630Glu) c.1696A>G (p.Lys566Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625736T>G | CA344589199 | LAMB3 | c.1888A>C (p.Lys630Gln) c.1696A>C (p.Lys566Gln) | dbSNP |
1 | g.209625736T= | CA1148434533 | LAMB3 | c.1888A= (p.Lys630=) c.1696A= (p.Lys566=) | |
1 | g.209625737A>C | CA344589200 | LAMB3 | c.1887T>G (p.Ser629Arg) c.1695T>G (p.Ser565Arg) | |
1 | g.209625737A>G | CA423142598 | LAMB3 | c.1887T>C (p.Ser629=) c.1695T>C (p.Ser565=) | |
1 | g.209625737A>T | CA344589201 | LAMB3 | c.1887T>A (p.Ser629Arg) c.1695T>A (p.Ser565Arg) | |
1 | g.209625738C>A | CA344589202 | LAMB3 | c.1886G>T (p.Ser629Ile) c.1694G>T (p.Ser565Ile) | |
1 | g.209625738C= | CA2484299219 | LAMB3 | c.1886G= (p.Ser629=) c.1694G= (p.Ser565=) | |
1 | g.209625738C>G | CA344589203 | LAMB3 | c.1886G>C (p.Ser629Thr) c.1694G>C (p.Ser565Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625738C>T | CA344589204 | LAMB3 | c.1886G>A (p.Ser629Asn) c.1694G>A (p.Ser565Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625739T>A | CA344589205 | LAMB3 | c.1885A>T (p.Ser629Cys) c.1693A>T (p.Ser565Cys) | |
1 | g.209625739T>C | CA344589206 | LAMB3 | c.1885A>G (p.Ser629Gly) c.1693A>G (p.Ser565Gly) | |
1 | g.209625739T>G | CA344589207 | LAMB3 | c.1885A>C (p.Ser629Arg) c.1693A>C (p.Ser565Arg) | |
1 | g.209625740C>A | CA1375437 | LAMB3 | c.1884G>T (p.Lys628Asn) c.1692G>T (p.Lys564Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625740C= | CA2484299220 | LAMB3 | c.1884G= (p.Lys628=) c.1692G= (p.Lys564=) | |
1 | g.209625740C>G | CA344589208 | LAMB3 | c.1884G>C (p.Lys628Asn) c.1692G>C (p.Lys564Asn) | |
1 | g.209625740C>T | CA423142599 | LAMB3 | c.1884G>A (p.Lys628=) c.1692G>A (p.Lys564=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625741T>A | CA344589209 | LAMB3 | c.1883A>T (p.Lys628Met) c.1691A>T (p.Lys564Met) | |
1 | g.209625741T>C | CA344589211 | LAMB3 | c.1883A>G (p.Lys628Arg) c.1691A>G (p.Lys564Arg) | |
1 | g.209625741T>G | CA344589210 | LAMB3 | c.1883A>C (p.Lys628Thr) c.1691A>C (p.Lys564Thr) | |
1 | g.209625742T>A | CA344589212 | LAMB3 | c.1882A>T (p.Lys628Ter) c.1690A>T (p.Lys564Ter) | |
1 | g.209625742T>C | CA344589213 | LAMB3 | c.1882A>G (p.Lys628Glu) c.1690A>G (p.Lys564Glu) | |
1 | g.209625742T>G | CA344589214 | LAMB3 | c.1882A>C (p.Lys628Gln) c.1690A>C (p.Lys564Gln) | |
1 | g.209625743T>A | CA423142600 | LAMB3 | c.1881A>T (p.Ala627=) c.1689A>T (p.Ala563=) | |
1 | g.209625743T>C | CA423142601 | LAMB3 | c.1881A>G (p.Ala627=) c.1689A>G (p.Ala563=) | |
1 | g.209625743T>G | CA423142602 | LAMB3 | c.1881A>C (p.Ala627=) c.1689A>C (p.Ala563=) | |
1 | g.209625744G>A | CA344589215 | LAMB3 | c.1880C>T (p.Ala627Val) c.1688C>T (p.Ala563Val) | |
1 | g.209625744G>C | CA344589216 | LAMB3 | c.1880C>G (p.Ala627Gly) c.1688C>G (p.Ala563Gly) | |
1 | g.209625744G>T | CA344589217 | LAMB3 | c.1880C>A (p.Ala627Glu) c.1688C>A (p.Ala563Glu) | gnomAD v4 |
1 | g.209625745C>A | CA344589220 | LAMB3 | c.1879G>T (p.Ala627Ser) c.1687G>T (p.Ala563Ser) | |
1 | g.209625745C>G | CA344589218 | LAMB3 | c.1879G>C (p.Ala627Pro) c.1687G>C (p.Ala563Pro) | |
1 | g.209625745C>T | CA344589219 | LAMB3 | c.1879G>A (p.Ala627Thr) c.1687G>A (p.Ala563Thr) | |
1 | g.209625746A= | CA1144213242 | LAMB3 | c.1878T= (p.Asp626=) c.1686T= (p.Asp562=) | |
1 | g.209625746A>C | CA1375438 | LAMB3 | c.1878T>G (p.Asp626Glu) c.1686T>G (p.Asp562Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625746A>G | CA423142603 | LAMB3 | c.1878T>C (p.Asp626=) c.1686T>C (p.Asp562=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625746A>T | CA344589221 | LAMB3 | c.1878T>A (p.Asp626Glu) c.1686T>A (p.Asp562Glu) | |
1 | g.209625747T>A | CA344589222 | LAMB3 | c.1877A>T (p.Asp626Val) c.1685A>T (p.Asp562Val) | |
1 | g.209625747T>C | CA344589223 | LAMB3 | c.1877A>G (p.Asp626Gly) c.1685A>G (p.Asp562Gly) | gnomAD v4 |
1 | g.209625747T>G | CA344589224 | LAMB3 | c.1877A>C (p.Asp626Ala) c.1685A>C (p.Asp562Ala) | |
1 | g.209625748C>A | CA344589225 | LAMB3 | c.1876G>T (p.Asp626Tyr) c.1684G>T (p.Asp562Tyr) | |
1 | g.209625748C= | CA1148333979 | LAMB3 | c.1876G= (p.Asp626=) c.1684G= (p.Asp562=) | |
1 | g.209625748C>G | CA344589226 | LAMB3 | c.1876G>C (p.Asp626His) c.1684G>C (p.Asp562His) | |
1 | g.209625748C>T | CA1375439 | LAMB3 | c.1876G>A (p.Asp626Asn) c.1684G>A (p.Asp562Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209625748delinsAATTT | CA2580061984 | LAMB3 | c.1876delinsAAATT (p.Asp626LysfsTer6) c.1684delinsAAATT (p.Asp562LysfsTer6) | ClinVar |
1 | g.209625749T>A | CA423142606 | LAMB3 | c.1875A>T (p.Leu625=) c.1683A>T (p.Leu561=) | |
1 | g.209625749T>C | CA423142605 | LAMB3 | c.1875A>G (p.Leu625=) c.1683A>G (p.Leu561=) | gnomAD v4 |
1 | g.209625749T>G | CA423142604 | LAMB3 | c.1875A>C (p.Leu625=) c.1683A>C (p.Leu561=) | |
1 | g.209625750A>C | CA344589227 | LAMB3 | c.1874T>G (p.Leu625Arg) c.1682T>G (p.Leu561Arg) | |
1 | g.209625750A>G | CA344589228 | LAMB3 | c.1874T>C (p.Leu625Pro) c.1682T>C (p.Leu561Pro) | |
1 | g.209625750A>T | CA344589229 | LAMB3 | c.1874T>A (p.Leu625Gln) c.1682T>A (p.Leu561Gln) | |
1 | g.209625751G>A | CA1375440 | LAMB3 | c.1873C>T (p.Leu625=) c.1681C>T (p.Leu561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625751G>C | CA344589230 | LAMB3 | c.1873C>G (p.Leu625Val) c.1681C>G (p.Leu561Val) | |
1 | g.209625751G= | CA1146973927 | LAMB3 | c.1873C= (p.Leu625=) c.1681C= (p.Leu561=) | |
1 | g.209625751G>T | CA344589231 | LAMB3 | c.1873C>A (p.Leu625Ile) c.1681C>A (p.Leu561Ile) | |
1 | g.209625752G>A | CA423142607 | LAMB3 | c.1872C>T (p.Ile624=) c.1680C>T (p.Ile560=) | |
1 | g.209625752G>C | CA344589232 | LAMB3 | c.1872C>G (p.Ile624Met) c.1680C>G (p.Ile560Met) | |
1 | g.209625752G>T | CA423142608 | LAMB3 | c.1872C>A (p.Ile624=) c.1680C>A (p.Ile560=) | |
1 | g.209625753A>C | CA344589233 | LAMB3 | c.1871T>G (p.Ile624Ser) c.1679T>G (p.Ile560Ser) | |
1 | g.209625753A>G | CA344589234 | LAMB3 | c.1871T>C (p.Ile624Thr) c.1679T>C (p.Ile560Thr) | |
1 | g.209625753A>T | CA344589235 | LAMB3 | c.1871T>A (p.Ile624Asn) c.1679T>A (p.Ile560Asn) | |
1 | g.209625754T>A | CA344589236 | LAMB3 | c.1870A>T (p.Ile624Phe) c.1678A>T (p.Ile560Phe) | |
1 | g.209625754T>C | CA344589238 | LAMB3 | c.1870A>G (p.Ile624Val) c.1678A>G (p.Ile560Val) | |
1 | g.209625754T>G | CA344589237 | LAMB3 | c.1870A>C (p.Ile624Leu) c.1678A>C (p.Ile560Leu) | |
1 | g.209625755C>A | CA423142609 | LAMB3 | c.1869G>T (p.Arg623=) c.1677G>T (p.Arg559=) | |
1 | g.209625755C= | CA2484299221 | LAMB3 | c.1869G= (p.Arg623=) c.1677G= (p.Arg559=) | |
1 | g.209625755C>G | CA423142610 | LAMB3 | c.1869G>C (p.Arg623=) c.1677G>C (p.Arg559=) | |
1 | g.209625755C>T | CA423142611 | LAMB3 | c.1869G>A (p.Arg623=) c.1677G>A (p.Arg559=) | dbSNP |
1 | g.209625756del | CA2747564042 | LAMB3 | c.1869del (p.Ile624SerfsTer2) c.1677del (p.Ile560SerfsTer2) | |
1 | g.209625756C>A | CA344589239 | LAMB3 | c.1868G>T (p.Arg623Leu) c.1676G>T (p.Arg559Leu) | |
1 | g.209625756C= | CA1142078575 | LAMB3 | c.1868G= (p.Arg623=) c.1676G= (p.Arg559=) | |
1 | g.209625756C>G | CA344589240 | LAMB3 | c.1868G>C (p.Arg623Pro) c.1676G>C (p.Arg559Pro) | |
1 | g.209625756C>T | CA1375441 | LAMB3 | c.1868G>A (p.Arg623Gln) c.1676G>A (p.Arg559Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625757G>A | CA1375442 | LAMB3 | c.1867C>T (p.Arg623Trp) c.1675C>T (p.Arg559Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625757G>C | CA344589241 | LAMB3 | c.1867C>G (p.Arg623Gly) c.1675C>G (p.Arg559Gly) | |
1 | g.209625757G= | CA2484299222 | LAMB3 | c.1867C= (p.Arg623=) c.1675C= (p.Arg559=) | |
1 | g.209625757G>T | CA1375443 | LAMB3 | c.1867C>A (p.Arg623=) c.1675C>A (p.Arg559=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625758G>A | CA423142612 | LAMB3 | c.1866C>T (p.Ser622=) c.1674C>T (p.Ser558=) | COSMIC |
1 | g.209625758G>C | CA423142613 | LAMB3 | c.1866C>G (p.Ser622=) c.1674C>G (p.Ser558=) | |
1 | g.209625758G>T | CA423142614 | LAMB3 | c.1866C>A (p.Ser622=) c.1674C>A (p.Ser558=) | |
1 | g.209625758_209625759insAAGGTGTAGTAGCCTCGCTGGCACTGGTCACAGC | CA2650321823 | LAMB3 | c.1865_1866insGCTGTGACCAGTGCCAGCGAGGCTACTACACCTT (p.Arg623LeufsTer2) c.1673_1674insGCTGTGACCAGTGCCAGCGAGGCTACTACACCTT (p.Arg559LeufsTer2) | gnomAD v4 |
1 | g.209625759G>A | CA344589242 | LAMB3 | c.1865C>T (p.Ser622Phe) c.1673C>T (p.Ser558Phe) | dbSNP gnomAD v2 |
1 | g.209625759G>C | CA344589243 | LAMB3 | c.1865C>G (p.Ser622Cys) c.1673C>G (p.Ser558Cys) | |
1 | g.209625759G= | CA2484299223 | LAMB3 | c.1865C= (p.Ser622=) c.1673C= (p.Ser558=) | |
1 | g.209625759G>T | CA344589244 | LAMB3 | c.1865C>A (p.Ser622Tyr) c.1673C>A (p.Ser558Tyr) | |
1 | g.209625760A= | CA2484299224 | LAMB3 | c.1864T= (p.Ser622=) c.1672T= (p.Ser558=) | |
1 | g.209625760A>C | CA344589245 | LAMB3 | c.1864T>G (p.Ser622Ala) c.1672T>G (p.Ser558Ala) | |
1 | g.209625760A>G | CA1375444 | LAMB3 | c.1864T>C (p.Ser622Pro) c.1672T>C (p.Ser558Pro) | dbSNP ExAC gnomAD v4 |
1 | g.209625760A>T | CA344589246 | LAMB3 | c.1864T>A (p.Ser622Thr) c.1672T>A (p.Ser558Thr) | |
1 | g.209625761G>A | CA423142615 | LAMB3 | c.1863C>T (p.Ala621=) c.1671C>T (p.Ala557=) | |
1 | g.209625761G>C | CA423142616 | LAMB3 | c.1863C>G (p.Ala621=) c.1671C>G (p.Ala557=) | |
1 | g.209625761G>T | CA423142617 | LAMB3 | c.1863C>A (p.Ala621=) c.1671C>A (p.Ala557=) | |
1 | g.209625762G>A | CA1375445 | LAMB3 | c.1862C>T (p.Ala621Val) c.1670C>T (p.Ala557Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625762G>C | CA344589247 | LAMB3 | c.1862C>G (p.Ala621Gly) c.1670C>G (p.Ala557Gly) | |
1 | g.209625762G= | CA1141883181 | LAMB3 | c.1862C= (p.Ala621=) c.1670C= (p.Ala557=) | |
1 | g.209625762G>T | CA344589248 | LAMB3 | c.1862C>A (p.Ala621Asp) c.1670C>A (p.Ala557Asp) | |
1 | g.209625763C>A | CA344589249 | LAMB3 | c.1861G>T (p.Ala621Ser) c.1669G>T (p.Ala557Ser) | |
1 | g.209625763C= | CA2484299225 | LAMB3 | c.1861G= (p.Ala621=) c.1669G= (p.Ala557=) | |
1 | g.209625763C>G | CA1375446 | LAMB3 | c.1861G>C (p.Ala621Pro) c.1669G>C (p.Ala557Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625763C>T | CA344589250 | LAMB3 | c.1861G>A (p.Ala621Thr) c.1669G>A (p.Ala557Thr) | COSMIC |
1 | g.209625764C>A | CA423142618 | LAMB3 | c.1860G>T (p.Leu620=) c.1668G>T (p.Leu556=) | dbSNP |
1 | g.209625764C= | CA1149153733 | LAMB3 | c.1860G= (p.Leu620=) c.1668G= (p.Leu556=) | |
1 | g.209625764C>G | CA423142619 | LAMB3 | c.1860G>C (p.Leu620=) c.1668G>C (p.Leu556=) | |
1 | g.209625764C>T | CA1375447 | LAMB3 | c.1860G>A (p.Leu620=) c.1668G>A (p.Leu556=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625764_209625765insT | CA2650321824 | LAMB3 | c.1859_1860insA (p.Ala621GlyfsTer10) c.1667_1668insA (p.Ala557GlyfsTer10) | gnomAD v4 |
1 | g.209625765A= | CA2484299226 | LAMB3 | c.1859T= (p.Leu620=) c.1667T= (p.Leu556=) | |
1 | g.209625765A>C | CA344589251 | LAMB3 | c.1859T>G (p.Leu620Arg) c.1667T>G (p.Leu556Arg) | |
1 | g.209625765A>G | CA344589252 | LAMB3 | c.1859T>C (p.Leu620Pro) c.1667T>C (p.Leu556Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625765A>T | CA344589253 | LAMB3 | c.1859T>A (p.Leu620Gln) c.1667T>A (p.Leu556Gln) | |
1 | g.209625766G>A | CA423142620 | LAMB3 | c.1858C>T (p.Leu620=) c.1666C>T (p.Leu556=) | gnomAD v4 |
1 | g.209625766G>C | CA344589254 | LAMB3 | c.1858C>G (p.Leu620Val) c.1666C>G (p.Leu556Val) | |
1 | g.209625766G>T | CA344589255 | LAMB3 | c.1858C>A (p.Leu620Met) c.1666C>A (p.Leu556Met) | COSMIC |
1 | g.209625766_209625767insAT | CA2650321825 | LAMB3 | c.1857_1858insAT (p.Leu620IlefsTer7) c.1665_1666insAT (p.Leu556IlefsTer7) | gnomAD v4 |
1 | g.209625767G>A | CA423142621 | LAMB3 | c.1857C>T (p.Gly619=) c.1665C>T (p.Gly555=) | gnomAD v4 |
1 | g.209625767G>C | CA423142622 | LAMB3 | c.1857C>G (p.Gly619=) c.1665C>G (p.Gly555=) | gnomAD v4 |
1 | g.209625767G>T | CA423142623 | LAMB3 | c.1857C>A (p.Gly619=) c.1665C>A (p.Gly555=) | |
1 | g.209625768C>A | CA344589256 | LAMB3 | c.1856G>T (p.Gly619Val) c.1664G>T (p.Gly555Val) | |
1 | g.209625768C= | CA2484299227 | LAMB3 | c.1856G= (p.Gly619=) c.1664G= (p.Gly555=) | |
1 | g.209625768C>G | CA344589257 | LAMB3 | c.1856G>C (p.Gly619Ala) c.1664G>C (p.Gly555Ala) | |
1 | g.209625768C>T | CA344589258 | LAMB3 | c.1856G>A (p.Gly619Asp) c.1664G>A (p.Gly555Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625769del | CA2650321826 | LAMB3 | c.1856del (p.Gly619AlafsTer7) c.1664del (p.Gly555AlafsTer7) | gnomAD v4 |
1 | g.209625769C>A | CA344589260 | LAMB3 | c.1855G>T (p.Gly619Cys) c.1663G>T (p.Gly555Cys) | |
1 | g.209625769C>G | CA344589261 | LAMB3 | c.1855G>C (p.Gly619Arg) c.1663G>C (p.Gly555Arg) | |
1 | g.209625769C>T | CA344589259 | LAMB3 | c.1855G>A (p.Gly619Ser) c.1663G>A (p.Gly555Ser) | |
1 | g.209625770A= | CA2484299228 | LAMB3 | c.1854T= (p.Arg618=) c.1662T= (p.Arg554=) | |
1 | g.209625770A>C | CA423142624 | LAMB3 | c.1854T>G (p.Arg618=) c.1662T>G (p.Arg554=) | |
1 | g.209625770A>G | CA423142626 | LAMB3 | c.1854T>C (p.Arg618=) c.1662T>C (p.Arg554=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625770A>T | CA423142625 | LAMB3 | c.1854T>A (p.Arg618=) c.1662T>A (p.Arg554=) | |
1 | g.209625771C>A | CA344589262 | LAMB3 | c.1853G>T (p.Arg618Leu) c.1661G>T (p.Arg554Leu) | gnomAD v4 |
1 | g.209625771C= | CA2484299229 | LAMB3 | c.1853G= (p.Arg618=) c.1661G= (p.Arg554=) | |
1 | g.209625771C>G | CA344589263 | LAMB3 | c.1853G>C (p.Arg618Pro) c.1661G>C (p.Arg554Pro) | |
1 | g.209625771C>T | CA1375448 | LAMB3 | c.1853G>A (p.Arg618His) c.1661G>A (p.Arg554His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209625772G>A | CA1375449 | LAMB3 | c.1852C>T (p.Arg618Cys) c.1660C>T (p.Arg554Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625772G>C | CA344589264 | LAMB3 | c.1852C>G (p.Arg618Gly) c.1660C>G (p.Arg554Gly) | dbSNP gnomAD v4 |
1 | g.209625772G= | CA1143396540 | LAMB3 | c.1852C= (p.Arg618=) c.1660C= (p.Arg554=) | |
1 | g.209625772G>T | CA344589265 | LAMB3 | c.1852C>A (p.Arg618Ser) c.1660C>A (p.Arg554Ser) | |
1 | g.209625773G>A | CA36756258 | LAMB3 | c.1851C>T (p.Asp617=) c.1659C>T (p.Asp553=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625773G>C | CA344589266 | LAMB3 | c.1851C>G (p.Asp617Glu) c.1659C>G (p.Asp553Glu) | gnomAD v4 |
1 | g.209625773G= | CA2484299230 | LAMB3 | c.1851C= (p.Asp617=) c.1659C= (p.Asp553=) | |
1 | g.209625773G>T | CA344589267 | LAMB3 | c.1851C>A (p.Asp617Glu) c.1659C>A (p.Asp553Glu) | |
1 | g.209625774T>A | CA344589268 | LAMB3 | c.1850A>T (p.Asp617Val) c.1658A>T (p.Asp553Val) | |
1 | g.209625774T>C | CA344589269 | LAMB3 | c.1850A>G (p.Asp617Gly) c.1658A>G (p.Asp553Gly) | |
1 | g.209625774T>G | CA344589270 | LAMB3 | c.1850A>C (p.Asp617Ala) c.1658A>C (p.Asp553Ala) | |
1 | g.209625775C>A | CA344589271 | LAMB3 | c.1849G>T (p.Asp617Tyr) c.1657G>T (p.Asp553Tyr) | |
1 | g.209625775C>G | CA344589272 | LAMB3 | c.1849G>C (p.Asp617His) c.1657G>C (p.Asp553His) | |
1 | g.209625775C>T | CA344589273 | LAMB3 | c.1849G>A (p.Asp617Asn) c.1657G>A (p.Asp553Asn) | COSMIC |
1 | g.209625776C>A | CA344589274 | LAMB3 | c.1848G>T (p.Glu616Asp) c.1656G>T (p.Glu552Asp) | |
1 | g.209625776C>G | CA344589275 | LAMB3 | c.1848G>C (p.Glu616Asp) c.1656G>C (p.Glu552Asp) | |
1 | g.209625776C>T | CA423142627 | LAMB3 | c.1848G>A (p.Glu616=) c.1656G>A (p.Glu552=) | ClinVar dbSNP |
1 | g.209625777T>A | CA344589276 | LAMB3 | c.1847A>T (p.Glu616Val) c.1655A>T (p.Glu552Val) | |
1 | g.209625777T>C | CA344589277 | LAMB3 | c.1847A>G (p.Glu616Gly) c.1655A>G (p.Glu552Gly) | |
1 | g.209625777T>G | CA344589278 | LAMB3 | c.1847A>C (p.Glu616Ala) c.1655A>C (p.Glu552Ala) | |
1 | g.209625778C>A | CA344589279 | LAMB3 | c.1846G>T (p.Glu616Ter) c.1654G>T (p.Glu552Ter) | ClinVar |
1 | g.209625778C>G | CA344589280 | LAMB3 | c.1846G>C (p.Glu616Gln) c.1654G>C (p.Glu552Gln) | |
1 | g.209625778C>T | CA344589281 | LAMB3 | c.1846G>A (p.Glu616Lys) c.1654G>A (p.Glu552Lys) | |
1 | g.209625779C>A | CA423142628 | LAMB3 | c.1845G>T (p.Leu615=) c.1653G>T (p.Leu551=) | |
1 | g.209625779C= | CA2484299231 | LAMB3 | c.1845G= (p.Leu615=) c.1653G= (p.Leu551=) | |
1 | g.209625779C>G | CA423142629 | LAMB3 | c.1845G>C (p.Leu615=) c.1653G>C (p.Leu551=) | |
1 | g.209625779C>T | CA423142630 | LAMB3 | c.1845G>A (p.Leu615=) c.1653G>A (p.Leu551=) | ClinVar dbSNP |
1 | g.209625780A>C | CA344589282 | LAMB3 | c.1844T>G (p.Leu615Arg) c.1652T>G (p.Leu551Arg) | |
1 | g.209625780A>G | CA344589283 | LAMB3 | c.1844T>C (p.Leu615Pro) c.1652T>C (p.Leu551Pro) | |
1 | g.209625780A>T | CA344589284 | LAMB3 | c.1844T>A (p.Leu615Gln) c.1652T>A (p.Leu551Gln) | |
1 | g.209625781G>A | CA423142631 | LAMB3 | c.1843C>T (p.Leu615=) c.1651C>T (p.Leu551=) | gnomAD v4 |
1 | g.209625781G>C | CA344589285 | LAMB3 | c.1843C>G (p.Leu615Val) c.1651C>G (p.Leu551Val) | |
1 | g.209625781G>T | CA344589286 | LAMB3 | c.1843C>A (p.Leu615Met) c.1651C>A (p.Leu551Met) | |
1 | g.209625782C>A | CA423142632 | LAMB3 | c.1842G>T (p.Gly614=) c.1650G>T (p.Gly550=) | |
1 | g.209625782C= | CA2484299232 | LAMB3 | c.1842G= (p.Gly614=) c.1650G= (p.Gly550=) | |
1 | g.209625782C>G | CA423142633 | LAMB3 | c.1842G>C (p.Gly614=) c.1650G>C (p.Gly550=) | COSMIC |
1 | g.209625782C>T | CA1375450 | LAMB3 | c.1842G>A (p.Gly614=) c.1650G>A (p.Gly550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625783C>A | CA344589289 | LAMB3 | c.1841G>T (p.Gly614Val) c.1649G>T (p.Gly550Val) | |
1 | g.209625783C>G | CA344589288 | LAMB3 | c.1841G>C (p.Gly614Ala) c.1649G>C (p.Gly550Ala) | |
1 | g.209625783C>T | CA344589287 | LAMB3 | c.1841G>A (p.Gly614Glu) c.1649G>A (p.Gly550Glu) | |
1 | g.209625784C>A | CA344589290 | LAMB3 | c.1840G>T (p.Gly614Trp) c.1648G>T (p.Gly550Trp) | |
1 | g.209625784C>G | CA344589292 | LAMB3 | c.1840G>C (p.Gly614Arg) c.1648G>C (p.Gly550Arg) | |
1 | g.209625784C>T | CA344589291 | LAMB3 | c.1840G>A (p.Gly614Arg) c.1648G>A (p.Gly550Arg) | |
1 | g.209625785A= | CA2484299233 | LAMB3 | c.1839T= (p.Pro613=) c.1647T= (p.Pro549=) | |
1 | g.209625785A>C | CA423142634 | LAMB3 | c.1839T>G (p.Pro613=) c.1647T>G (p.Pro549=) | |
1 | g.209625785A>G | CA423142635 | LAMB3 | c.1839T>C (p.Pro613=) c.1647T>C (p.Pro549=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625785A>T | CA423142636 | LAMB3 | c.1839T>A (p.Pro613=) c.1647T>A (p.Pro549=) | |
1 | g.209625786G>A | CA344589293 | LAMB3 | c.1838C>T (p.Pro613Leu) c.1646C>T (p.Pro549Leu) | |
1 | g.209625786G>C | CA344589295 | LAMB3 | c.1838C>G (p.Pro613Arg) c.1646C>G (p.Pro549Arg) | |
1 | g.209625786G>T | CA344589294 | LAMB3 | c.1838C>A (p.Pro613His) c.1646C>A (p.Pro549His) | |
1 | g.209625787G>A | CA1375451 | LAMB3 | c.1837C>T (p.Pro613Ser) c.1645C>T (p.Pro549Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625787G>C | CA36756269 | LAMB3 | c.1837C>G (p.Pro613Ala) c.1645C>G (p.Pro549Ala) | dbSNP |
1 | g.209625787G= | CA1142179022 | LAMB3 | c.1837C= (p.Pro613=) c.1645C= (p.Pro549=) | |
1 | g.209625787G>T | CA344589296 | LAMB3 | c.1837C>A (p.Pro613Thr) c.1645C>A (p.Pro549Thr) | |
1 | g.209625788C>A | CA423142637 | LAMB3 | c.1836G>T (p.Gly612=) c.1644G>T (p.Gly548=) | |
1 | g.209625788C>G | CA423142638 | LAMB3 | c.1836G>C (p.Gly612=) c.1644G>C (p.Gly548=) | |
1 | g.209625788C>T | CA423142639 | LAMB3 | c.1836G>A (p.Gly612=) c.1644G>A (p.Gly548=) | |
1 | g.209625789C>A | CA344589297 | LAMB3 | c.1835G>T (p.Gly612Val) c.1643G>T (p.Gly548Val) | |
1 | g.209625789C>G | CA344589298 | LAMB3 | c.1835G>C (p.Gly612Ala) c.1643G>C (p.Gly548Ala) | |
1 | g.209625789C>T | CA344589299 | LAMB3 | c.1835G>A (p.Gly612Glu) c.1643G>A (p.Gly548Glu) | gnomAD v4 |
1 | g.209625790C>A | CA344589300 | LAMB3 | c.1834G>T (p.Gly612Trp) c.1642G>T (p.Gly548Trp) | |
1 | g.209625790C>G | CA344589301 | LAMB3 | c.1834G>C (p.Gly612Arg) c.1642G>C (p.Gly548Arg) | |
1 | g.209625790C>T | CA344589302 | LAMB3 | c.1834G>A (p.Gly612Arg) c.1642G>A (p.Gly548Arg) | |
1 | g.209625791T>A | CA423142640 | LAMB3 | c.1833A>T (p.Ser611=) c.1641A>T (p.Ser547=) | |
1 | g.209625791T>C | CA423142641 | LAMB3 | c.1833A>G (p.Ser611=) c.1641A>G (p.Ser547=) | ClinVar dbSNP |
1 | g.209625791T>G | CA423142642 | LAMB3 | c.1833A>C (p.Ser611=) c.1641A>C (p.Ser547=) | |
1 | g.209625791T= | CA2484299234 | LAMB3 | c.1833A= (p.Ser611=) c.1641A= (p.Ser547=) | |
1 | g.209625792G>A | CA344589303 | LAMB3 | c.1832C>T (p.Ser611Leu) c.1640C>T (p.Ser547Leu) | COSMIC |
1 | g.209625792G>C | CA344589304 | LAMB3 | c.1832C>G (p.Ser611Ter) c.1640C>G (p.Ser547Ter) | gnomAD v4 |
1 | g.209625792G>T | CA344589305 | LAMB3 | c.1832C>A (p.Ser611Ter) c.1640C>A (p.Ser547Ter) | |
1 | g.209625793A>C | CA344589308 | LAMB3 | c.1831T>G (p.Ser611Ala) c.1639T>G (p.Ser547Ala) | |
1 | g.209625793A>G | CA344589306 | LAMB3 | c.1831T>C (p.Ser611Pro) c.1639T>C (p.Ser547Pro) | |
1 | g.209625793A>T | CA344589307 | LAMB3 | c.1831T>A (p.Ser611Thr) c.1639T>A (p.Ser547Thr) | |
1 | g.209625793_209625801del | CA2747564043 | LAMB3 | c.1823_1831del (p.Ser608_Ser611delinsThr) c.1631_1639del (p.Ser544_Ser547delinsThr) | |
1 | g.209625794C>A | CA344589309 | LAMB3 | c.1830G>T (p.Trp610Cys) c.1638G>T (p.Trp546Cys) | gnomAD v4 |
1 | g.209625794C= | CA1141581352 | LAMB3 | c.1830G= (p.Trp610=) c.1638G= (p.Trp546=) | |
1 | g.209625794C>G | CA344589310 | LAMB3 | c.1830G>C (p.Trp610Cys) c.1638G>C (p.Trp546Cys) | |
1 | g.209625794C>T | CA257278 | LAMB3 | c.1830G>A (p.Trp610Ter) c.1638G>A (p.Trp546Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209625795C>A | CA344589311 | LAMB3 | c.1829G>T (p.Trp610Leu) c.1637G>T (p.Trp546Leu) | |
1 | g.209625795C= | CA1143777576 | LAMB3 | c.1829G= (p.Trp610=) c.1637G= (p.Trp546=) | |
1 | g.209625795C>G | CA1375452 | LAMB3 | c.1829G>C (p.Trp610Ser) c.1637G>C (p.Trp546Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625795C>T | CA344589312 | LAMB3 | c.1829G>A (p.Trp610Ter) c.1637G>A (p.Trp546Ter) | ClinVar |