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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625613A= | CA1148437394 | LAMB3 | c.1976+35T= (n.1976+35T=) c.1784+35T= (n.1784+35T=) | |
| 1 | g.209625613A>G | CA1375419 | LAMB3 | c.1976+35T>C (n.1976+35T>C) c.1784+35T>C (n.1784+35T>C) | dbSNP ExAC gnomAD v2 |
| 1 | g.209625614T>A | CA1375420 | LAMB3 | c.1976+34A>T (n.1976+34A>T) c.1784+34A>T (n.1784+34A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209625614T= | CA2484299174 | LAMB3 | c.1976+34A= (n.1976+34A=) c.1784+34A= (n.1784+34A=) | |
| 1 | g.209625617T>C | CA2650321813 | LAMB3 | c.1976+31A>G (n.1976+31A>G) c.1784+31A>G (n.1784+31A>G) | gnomAD v4 |
| 1 | g.209625619G>A | CA1375421 | LAMB3 | c.1976+29C>T (n.1976+29C>T) c.1784+29C>T (n.1784+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209625619G= | CA2484299175 | LAMB3 | c.1976+29C= (n.1976+29C=) c.1784+29C= (n.1784+29C=) | |
| 1 | g.209625620C= | CA1147131331 | LAMB3 | c.1976+28G= (n.1976+28G=) c.1784+28G= (n.1784+28G=) | |
| 1 | g.209625620C>T | CA1375422 | LAMB3 | c.1976+28G>A (n.1976+28G>A) c.1784+28G>A (n.1784+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625621A>C | CA2650321814 | LAMB3 | c.1976+27T>G (n.1976+27T>G) c.1784+27T>G (n.1784+27T>G) | gnomAD v4 |
| 1 | g.209625623A= | CA1143896334 | LAMB3 | c.1976+25T= (n.1976+25T=) c.1784+25T= (n.1784+25T=) | |
| 1 | g.209625623A>C | CA2650321815 | LAMB3 | c.1976+25T>G (n.1976+25T>G) c.1784+25T>G (n.1784+25T>G) | gnomAD v4 |
| 1 | g.209625623A>G | CA1375423 | LAMB3 | c.1976+25T>C (n.1976+25T>C) c.1784+25T>C (n.1784+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625624T>C | CA2484299177 | LAMB3 | c.1976+24A>G (n.1976+24A>G) c.1784+24A>G (n.1784+24A>G) | dbSNP gnomAD v4 |
| 1 | g.209625624T= | CA2484299176 | LAMB3 | c.1976+24A= (n.1976+24A=) c.1784+24A= (n.1784+24A=) | |
| 1 | g.209625625G>C | CA2650321816 | LAMB3 | c.1976+23C>G (n.1976+23C>G) c.1784+23C>G (n.1784+23C>G) | gnomAD v4 |
| 1 | g.209625626C= | CA2484299178 | LAMB3 | c.1976+22G= (n.1976+22G=) c.1784+22G= (n.1784+22G=) | |
| 1 | g.209625626C>G | CA529000125 | LAMB3 | c.1976+22G>C (n.1976+22G>C) c.1784+22G>C (n.1784+22G>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209625626C>T | CA529000126 | LAMB3 | c.1976+22G>A (n.1976+22G>A) c.1784+22G>A (n.1784+22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625629G>A | CA2697554868 | LAMB3 | c.1976+19C>T (n.1976+19C>T) c.1784+19C>T (n.1784+19C>T) | ClinVar |
| 1 | g.209625629G= | CA2484299179 | LAMB3 | c.1976+19C= (n.1976+19C=) c.1784+19C= (n.1784+19C=) | |
| 1 | g.209625629G>T | CA529000127 | LAMB3 | c.1976+19C>A (n.1976+19C>A) c.1784+19C>A (n.1784+19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625630G>A | CA529000128 | LAMB3 | c.1976+18C>T (n.1976+18C>T) c.1784+18C>T (n.1784+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625630G= | CA2484299180 | LAMB3 | c.1976+18C= (n.1976+18C=) c.1784+18C= (n.1784+18C=) | |
| 1 | g.209625630G>T | CA2650321817 | LAMB3 | c.1976+18C>A (n.1976+18C>A) c.1784+18C>A (n.1784+18C>A) | ClinVar gnomAD v4 |
| 1 | g.209625631C>T | CA2740219894 | LAMB3 | c.1976+17G>A (n.1976+17G>A) c.1784+17G>A (n.1784+17G>A) | |
| 1 | g.209625633G>A | CA2650321818 | LAMB3 | c.1976+15C>T (n.1976+15C>T) c.1784+15C>T (n.1784+15C>T) | gnomAD v4 |
| 1 | g.209625633G>T | CA2573998737 | LAMB3 | c.1976+15C>A (n.1976+15C>A) c.1784+15C>A (n.1784+15C>A) | gnomAD v4 |
| 1 | g.209625634G>A | CA2484299182 | LAMB3 | c.1976+14C>T (n.1976+14C>T) c.1784+14C>T (n.1784+14C>T) | dbSNP |
| 1 | g.209625634G= | CA2484299181 | LAMB3 | c.1976+14C= (n.1976+14C=) c.1784+14C= (n.1784+14C=) | |
| 1 | g.209625635G>A | CA2650321819 | LAMB3 | c.1976+13C>T (n.1976+13C>T) c.1784+13C>T (n.1784+13C>T) | gnomAD v4 |
| 1 | g.209625635G>C | CA2650321820 | LAMB3 | c.1976+13C>G (n.1976+13C>G) c.1784+13C>G (n.1784+13C>G) | gnomAD v4 |
| 1 | g.209625636A>G | CA2573998740 | LAMB3 | c.1976+12T>C (n.1976+12T>C) c.1784+12T>C (n.1784+12T>C) | |
| 1 | g.209625638A= | CA2484299183 | LAMB3 | c.1976+10T= (n.1976+10T=) c.1784+10T= (n.1784+10T=) | |
| 1 | g.209625638A>G | CA730827488 | LAMB3 | c.1976+10T>C (n.1976+10T>C) c.1784+10T>C (n.1784+10T>C) | dbSNP |
| 1 | g.209625639G>A | CA2697554869 | LAMB3 | c.1976+9C>T (n.1976+9C>T) c.1784+9C>T (n.1784+9C>T) | ClinVar |
| 1 | g.209625640G>T | CA2499214422 | LAMB3 | c.1976+8C>A (n.1976+8C>A) c.1784+8C>A (n.1784+8C>A) | ClinVar dbSNP |
| 1 | g.209625642A>T | CA2650321821 | LAMB3 | c.1976+6T>A (n.1976+6T>A) c.1784+6T>A (n.1784+6T>A) | gnomAD v4 |
| 1 | g.209625643A= | CA2484299184 | LAMB3 | c.1976+5T= (n.1976+5T=) c.1784+5T= (n.1784+5T=) | |
| 1 | g.209625643A>T | CA529000129 | LAMB3 | c.1976+5T>A (n.1976+5T>A) c.1784+5T>A (n.1784+5T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625646A>C | CA344589005 | LAMB3 | c.1976+2T>G (n.1976+2T>G) c.1784+2T>G (n.1784+2T>G) | |
| 1 | g.209625646A>G | CA344589007 | LAMB3 | c.1976+2T>C (n.1976+2T>C) c.1784+2T>C (n.1784+2T>C) | |
| 1 | g.209625646A>T | CA344589006 | LAMB3 | c.1976+2T>A (n.1976+2T>A) c.1784+2T>A (n.1784+2T>A) | |
| 1 | g.209625647C>A | CA344589008 | LAMB3 | c.1976+1G>T (n.1976+1G>T) c.1784+1G>T (n.1784+1G>T) | |
| 1 | g.209625647C>G | CA344589009 | LAMB3 | c.1976+1G>C (n.1976+1G>C) c.1784+1G>C (n.1784+1G>C) | |
| 1 | g.209625647C>T | CA344589010 | LAMB3 | c.1976+1G>A (n.1976+1G>A) c.1784+1G>A (n.1784+1G>A) | ClinVar |
| 1 | g.209625648C>A | CA344589011 | LAMB3 | c.1976G>T (p.Arg659Met) c.1784G>T (p.Arg595Met) | COSMIC |
| 1 | g.209625648C>G | CA344589012 | LAMB3 | c.1976G>C (p.Arg659Thr) c.1784G>C (p.Arg595Thr) | |
| 1 | g.209625648C>T | CA344589013 | LAMB3 | c.1976G>A (p.Arg659Lys) c.1784G>A (p.Arg595Lys) | |
| 1 | g.209625649T>A | CA344589014 | LAMB3 | c.1975A>T (p.Arg659Trp) c.1783A>T (p.Arg595Trp) | dbSNP |
| 1 | g.209625649T>C | CA344589015 | LAMB3 | c.1975A>G (p.Arg659Gly) c.1783A>G (p.Arg595Gly) | |
| 1 | g.209625649T>G | CA423142498 | LAMB3 | c.1975A>C (p.Arg659=) c.1783A>C (p.Arg595=) | |
| 1 | g.209625649T= | CA2484299185 | LAMB3 | c.1975A= (p.Arg659=) c.1783A= (p.Arg595=) | |
| 1 | g.209625650G>A | CA423142500 | LAMB3 | c.1974C>T (p.Leu658=) c.1782C>T (p.Leu594=) | |
| 1 | g.209625650G>C | CA423142501 | LAMB3 | c.1974C>G (p.Leu658=) c.1782C>G (p.Leu594=) | |
| 1 | g.209625650G>T | CA423142502 | LAMB3 | c.1974C>A (p.Leu658=) c.1782C>A (p.Leu594=) | |
| 1 | g.209625651A>C | CA344589016 | LAMB3 | c.1973T>G (p.Leu658Arg) c.1781T>G (p.Leu594Arg) | |
| 1 | g.209625651A>G | CA344589017 | LAMB3 | c.1973T>C (p.Leu658Pro) c.1781T>C (p.Leu594Pro) | |
| 1 | g.209625651A>T | CA344589018 | LAMB3 | c.1973T>A (p.Leu658His) c.1781T>A (p.Leu594His) | |
| 1 | g.209625652G>A | CA344589021 | LAMB3 | c.1972C>T (p.Leu658Phe) c.1780C>T (p.Leu594Phe) | dbSNP gnomAD v4 |
| 1 | g.209625652G>C | CA344589020 | LAMB3 | c.1972C>G (p.Leu658Val) c.1780C>G (p.Leu594Val) | |
| 1 | g.209625652G= | CA2484299186 | LAMB3 | c.1972C= (p.Leu658=) c.1780C= (p.Leu594=) | |
| 1 | g.209625652G>T | CA344589019 | LAMB3 | c.1972C>A (p.Leu658Ile) c.1780C>A (p.Leu594Ile) | |
| 1 | g.209625653G>A | CA423142506 | LAMB3 | c.1971C>T (p.Ser657=) c.1779C>T (p.Ser593=) | gnomAD v4 |
| 1 | g.209625653G>C | CA423142507 | LAMB3 | c.1971C>G (p.Ser657=) c.1779C>G (p.Ser593=) | |
| 1 | g.209625653G>T | CA423142508 | LAMB3 | c.1971C>A (p.Ser657=) c.1779C>A (p.Ser593=) | |
| 1 | g.209625654G>A | CA344589022 | LAMB3 | c.1970C>T (p.Ser657Phe) c.1778C>T (p.Ser593Phe) | gnomAD v4 |
| 1 | g.209625654G>C | CA344589023 | LAMB3 | c.1970C>G (p.Ser657Cys) c.1778C>G (p.Ser593Cys) | dbSNP |
| 1 | g.209625654G= | CA2484299187 | LAMB3 | c.1970C= (p.Ser657=) c.1778C= (p.Ser593=) | |
| 1 | g.209625654G>T | CA344589024 | LAMB3 | c.1970C>A (p.Ser657Tyr) c.1778C>A (p.Ser593Tyr) | ClinVar dbSNP |
| 1 | g.209625657_209625658dup | CA2586964550 | LAMB3 | c.1969_1970dup (p.Leu658ProfsTer?) c.1777_1778dup (p.Leu594ProfsTer?) | |
| 1 | g.209625655A>C | CA344589025 | LAMB3 | c.1969T>G (p.Ser657Ala) c.1777T>G (p.Ser593Ala) | |
| 1 | g.209625655A>G | CA344589026 | LAMB3 | c.1969T>C (p.Ser657Pro) c.1777T>C (p.Ser593Pro) | |
| 1 | g.209625655A>T | CA344589027 | LAMB3 | c.1969T>A (p.Ser657Thr) c.1777T>A (p.Ser593Thr) | |
| 1 | g.209625656G>A | CA1375424 | LAMB3 | c.1968C>T (p.Leu656=) c.1776C>T (p.Leu592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625656G>C | CA423142510 | LAMB3 | c.1968C>G (p.Leu656=) c.1776C>G (p.Leu592=) | gnomAD v4 |
| 1 | g.209625656G= | CA1141745946 | LAMB3 | c.1968C= (p.Leu656=) c.1776C= (p.Leu592=) | |
| 1 | g.209625656G>T | CA423142511 | LAMB3 | c.1968C>A (p.Leu656=) c.1776C>A (p.Leu592=) | |
| 1 | g.209625657A>C | CA344589028 | LAMB3 | c.1967T>G (p.Leu656Arg) c.1775T>G (p.Leu592Arg) | |
| 1 | g.209625657A>G | CA344589029 | LAMB3 | c.1967T>C (p.Leu656Pro) c.1775T>C (p.Leu592Pro) | |
| 1 | g.209625657A>T | CA344589030 | LAMB3 | c.1967T>A (p.Leu656His) c.1775T>A (p.Leu592His) | |
| 1 | g.209625658G>A | CA344589031 | LAMB3 | c.1966C>T (p.Leu656Phe) c.1774C>T (p.Leu592Phe) | gnomAD v4 |
| 1 | g.209625658G>C | CA344589032 | LAMB3 | c.1966C>G (p.Leu656Val) c.1774C>G (p.Leu592Val) | dbSNP |
| 1 | g.209625658G= | CA2484299188 | LAMB3 | c.1966C= (p.Leu656=) c.1774C= (p.Leu592=) | |
| 1 | g.209625658G>T | CA344589033 | LAMB3 | c.1966C>A (p.Leu656Ile) c.1774C>A (p.Leu592Ile) | |
| 1 | g.209625659G>A | CA423142516 | LAMB3 | c.1965C>T (p.Ile655=) c.1773C>T (p.Ile591=) | COSMIC |
| 1 | g.209625659G>C | CA344589034 | LAMB3 | c.1965C>G (p.Ile655Met) c.1773C>G (p.Ile591Met) | |
| 1 | g.209625659G>T | CA423142517 | LAMB3 | c.1965C>A (p.Ile655=) c.1773C>A (p.Ile591=) | |
| 1 | g.209625660A>C | CA344589037 | LAMB3 | c.1964T>G (p.Ile655Ser) c.1772T>G (p.Ile591Ser) | |
| 1 | g.209625660A>G | CA344589035 | LAMB3 | c.1964T>C (p.Ile655Thr) c.1772T>C (p.Ile591Thr) | |
| 1 | g.209625660A>T | CA344589036 | LAMB3 | c.1964T>A (p.Ile655Asn) c.1772T>A (p.Ile591Asn) | |
| 1 | g.209625661T>A | CA344589038 | LAMB3 | c.1963A>T (p.Ile655Phe) c.1771A>T (p.Ile591Phe) | |
| 1 | g.209625661T>C | CA344589039 | LAMB3 | c.1963A>G (p.Ile655Val) c.1771A>G (p.Ile591Val) | dbSNP |
| 1 | g.209625661T>G | CA344589040 | LAMB3 | c.1963A>C (p.Ile655Leu) c.1771A>C (p.Ile591Leu) | |
| 1 | g.209625661T= | CA2484299189 | LAMB3 | c.1963A= (p.Ile655=) c.1771A= (p.Ile591=) | |
| 1 | g.209625662G>A | CA423142522 | LAMB3 | c.1962C>T (p.Ala654=) c.1770C>T (p.Ala590=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625662G>C | CA423142523 | LAMB3 | c.1962C>G (p.Ala654=) c.1770C>G (p.Ala590=) | |
| 1 | g.209625662G= | CA2484299190 | LAMB3 | c.1962C= (p.Ala654=) c.1770C= (p.Ala590=) | |
| 1 | g.209625662G>T | CA423142524 | LAMB3 | c.1962C>A (p.Ala654=) c.1770C>A (p.Ala590=) | ClinVar dbSNP |
| 1 | g.209625663G>A | CA344589041 | LAMB3 | c.1961C>T (p.Ala654Val) c.1769C>T (p.Ala590Val) | dbSNP gnomAD v4 |
| 1 | g.209625663G>C | CA344589042 | LAMB3 | c.1961C>G (p.Ala654Gly) c.1769C>G (p.Ala590Gly) | |
| 1 | g.209625663G= | CA2484299191 | LAMB3 | c.1961C= (p.Ala654=) c.1769C= (p.Ala590=) | |
| 1 | g.209625663G>T | CA344589043 | LAMB3 | c.1961C>A (p.Ala654Asp) c.1769C>A (p.Ala590Asp) | |
| 1 | g.209625664C>A | CA344589044 | LAMB3 | c.1960G>T (p.Ala654Ser) c.1768G>T (p.Ala590Ser) | |
| 1 | g.209625664C>G | CA344589045 | LAMB3 | c.1960G>C (p.Ala654Pro) c.1768G>C (p.Ala590Pro) | |
| 1 | g.209625664C>T | CA344589046 | LAMB3 | c.1960G>A (p.Ala654Thr) c.1768G>A (p.Ala590Thr) | |
| 1 | g.209625665A>C | CA344589047 | LAMB3 | c.1959T>G (p.Ser653Arg) c.1767T>G (p.Ser589Arg) | |
| 1 | g.209625665A>G | CA423142527 | LAMB3 | c.1959T>C (p.Ser653=) c.1767T>C (p.Ser589=) | |
| 1 | g.209625665A>T | CA344589048 | LAMB3 | c.1959T>A (p.Ser653Arg) c.1767T>A (p.Ser589Arg) | |
| 1 | g.209625666C>A | CA344589051 | LAMB3 | c.1958G>T (p.Ser653Ile) c.1766G>T (p.Ser589Ile) | |
| 1 | g.209625666C>G | CA344589049 | LAMB3 | c.1958G>C (p.Ser653Thr) c.1766G>C (p.Ser589Thr) | |
| 1 | g.209625666C>T | CA344589050 | LAMB3 | c.1958G>A (p.Ser653Asn) c.1766G>A (p.Ser589Asn) | |
| 1 | g.209625667T>A | CA344589052 | LAMB3 | c.1957A>T (p.Ser653Cys) c.1765A>T (p.Ser589Cys) | |
| 1 | g.209625667T>C | CA344589053 | LAMB3 | c.1957A>G (p.Ser653Gly) c.1765A>G (p.Ser589Gly) | |
| 1 | g.209625667T>G | CA36756202 | LAMB3 | c.1957A>C (p.Ser653Arg) c.1765A>C (p.Ser589Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625667T= | CA2484299192 | LAMB3 | c.1957A= (p.Ser653=) c.1765A= (p.Ser589=) | |
| 1 | g.209625668G>A | CA423142532 | LAMB3 | c.1956C>T (p.Ala652=) c.1764C>T (p.Ala588=) | |
| 1 | g.209625668G>C | CA423142533 | LAMB3 | c.1956C>G (p.Ala652=) c.1764C>G (p.Ala588=) | |
| 1 | g.209625668G>T | CA423142534 | LAMB3 | c.1956C>A (p.Ala652=) c.1764C>A (p.Ala588=) | |
| 1 | g.209625669G>A | CA344589054 | LAMB3 | c.1955C>T (p.Ala652Val) c.1763C>T (p.Ala588Val) | |
| 1 | g.209625669G>C | CA344589055 | LAMB3 | c.1955C>G (p.Ala652Gly) c.1763C>G (p.Ala588Gly) | dbSNP |
| 1 | g.209625669G= | CA2484299193 | LAMB3 | c.1955C= (p.Ala652=) c.1763C= (p.Ala588=) | |
| 1 | g.209625669G>T | CA344589056 | LAMB3 | c.1955C>A (p.Ala652Asp) c.1763C>A (p.Ala588Asp) | |
| 1 | g.209625670C>A | CA344589057 | LAMB3 | c.1954G>T (p.Ala652Ser) c.1762G>T (p.Ala588Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625670C= | CA2484299194 | LAMB3 | c.1954G= (p.Ala652=) c.1762G= (p.Ala588=) | |
| 1 | g.209625670C>G | CA344589058 | LAMB3 | c.1954G>C (p.Ala652Pro) c.1762G>C (p.Ala588Pro) | |
| 1 | g.209625670C>T | CA344589059 | LAMB3 | c.1954G>A (p.Ala652Thr) c.1762G>A (p.Ala588Thr) | gnomAD v4 |
| 1 | g.209625671del | CA2650321822 | LAMB3 | c.1954del (p.Ala652ProfsTer?) c.1762del (p.Ala588ProfsTer?) | gnomAD v4 |
| 1 | g.209625671C>A | CA423142535 | LAMB3 | c.1953G>T (p.Val651=) c.1761G>T (p.Val587=) | |
| 1 | g.209625671C= | CA2484299195 | LAMB3 | c.1953G= (p.Val651=) c.1761G= (p.Val587=) | |
| 1 | g.209625671C>G | CA423142536 | LAMB3 | c.1953G>C (p.Val651=) c.1761G>C (p.Val587=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625671C>T | CA423142537 | LAMB3 | c.1953G>A (p.Val651=) c.1761G>A (p.Val587=) | dbSNP gnomAD v4 |
| 1 | g.209625672A= | CA1144681351 | LAMB3 | c.1952T= (p.Val651=) c.1760T= (p.Val587=) | |
| 1 | g.209625672A>C | CA344589060 | LAMB3 | c.1952T>G (p.Val651Gly) c.1760T>G (p.Val587Gly) | dbSNP |
| 1 | g.209625672A>G | CA1375425 | LAMB3 | c.1952T>C (p.Val651Ala) c.1760T>C (p.Val587Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625672A>T | CA344589061 | LAMB3 | c.1952T>A (p.Val651Glu) c.1760T>A (p.Val587Glu) | |
| 1 | g.209625673C>A | CA344589062 | LAMB3 | c.1951G>T (p.Val651Leu) c.1759G>T (p.Val587Leu) | |
| 1 | g.209625673C>G | CA344589064 | LAMB3 | c.1951G>C (p.Val651Leu) c.1759G>C (p.Val587Leu) | |
| 1 | g.209625673C>T | CA344589063 | LAMB3 | c.1951G>A (p.Val651Met) c.1759G>A (p.Val587Met) | |
| 1 | g.209625674C>A | CA344589065 | LAMB3 | c.1950G>T (p.Gln650His) c.1758G>T (p.Gln586His) | |
| 1 | g.209625674C>G | CA344589066 | LAMB3 | c.1950G>C (p.Gln650His) c.1758G>C (p.Gln586His) | |
| 1 | g.209625674C>T | CA423142542 | LAMB3 | c.1950G>A (p.Gln650=) c.1758G>A (p.Gln586=) | ClinVar gnomAD v4 |
| 1 | g.209625675T>A | CA344589067 | LAMB3 | c.1949A>T (p.Gln650Leu) c.1757A>T (p.Gln586Leu) | |
| 1 | g.209625675T>C | CA344589069 | LAMB3 | c.1949A>G (p.Gln650Arg) c.1757A>G (p.Gln586Arg) | |
| 1 | g.209625675T>G | CA344589068 | LAMB3 | c.1949A>C (p.Gln650Pro) c.1757A>C (p.Gln586Pro) | |
| 1 | g.209625676G>A | CA344589070 | LAMB3 | c.1948C>T (p.Gln650Ter) c.1756C>T (p.Gln586Ter) | ClinVar |
| 1 | g.209625676G>C | CA344589071 | LAMB3 | c.1948C>G (p.Gln650Glu) c.1756C>G (p.Gln586Glu) | |
| 1 | g.209625676G>T | CA344589072 | LAMB3 | c.1948C>A (p.Gln650Lys) c.1756C>A (p.Gln586Lys) | |
| 1 | g.209625677A>C | CA423142545 | LAMB3 | c.1947T>G (p.Ala649=) c.1755T>G (p.Ala585=) | |
| 1 | g.209625677A>G | CA423142547 | LAMB3 | c.1947T>C (p.Ala649=) c.1755T>C (p.Ala585=) | |
| 1 | g.209625677A>T | CA423142548 | LAMB3 | c.1947T>A (p.Ala649=) c.1755T>A (p.Ala585=) | |
| 1 | g.209625678G>A | CA344589073 | LAMB3 | c.1946C>T (p.Ala649Val) c.1754C>T (p.Ala585Val) | dbSNP |
| 1 | g.209625678G>C | CA344589074 | LAMB3 | c.1946C>G (p.Ala649Gly) c.1754C>G (p.Ala585Gly) | |
| 1 | g.209625678G= | CA2484299196 | LAMB3 | c.1946C= (p.Ala649=) c.1754C= (p.Ala585=) | |
| 1 | g.209625678G>T | CA344589075 | LAMB3 | c.1946C>A (p.Ala649Asp) c.1754C>A (p.Ala585Asp) | |
| 1 | g.209625679C>A | CA344589076 | LAMB3 | c.1945G>T (p.Ala649Ser) c.1753G>T (p.Ala585Ser) | |
| 1 | g.209625679C>G | CA344589077 | LAMB3 | c.1945G>C (p.Ala649Pro) c.1753G>C (p.Ala585Pro) | |
| 1 | g.209625679C>T | CA344589078 | LAMB3 | c.1945G>A (p.Ala649Thr) c.1753G>A (p.Ala585Thr) | |
| 1 | g.209625680dup | CA1375426 | LAMB3 | c.1945dup (p.Ala649GlyfsTer?) c.1753dup (p.Ala585GlyfsTer?) | dbSNP ExAC gnomAD v2 |
| 1 | g.209625680C>A | CA423142550 | LAMB3 | c.1944G>T (p.Val648=) c.1752G>T (p.Val584=) | |
| 1 | g.209625680C>G | CA423142551 | LAMB3 | c.1944G>C (p.Val648=) c.1752G>C (p.Val584=) | ClinVar |
| 1 | g.209625680C>T | CA423142552 | LAMB3 | c.1944G>A (p.Val648=) c.1752G>A (p.Val584=) | |
| 1 | g.209625681A>C | CA344589079 | LAMB3 | c.1943T>G (p.Val648Gly) c.1751T>G (p.Val584Gly) | |
| 1 | g.209625681A>G | CA344589080 | LAMB3 | c.1943T>C (p.Val648Ala) c.1751T>C (p.Val584Ala) | gnomAD v4 |
| 1 | g.209625681A>T | CA344589081 | LAMB3 | c.1943T>A (p.Val648Glu) c.1751T>A (p.Val584Glu) | |
| 1 | g.209625682C>A | CA344589082 | LAMB3 | c.1942G>T (p.Val648Leu) c.1750G>T (p.Val584Leu) | |
| 1 | g.209625682C>G | CA344589084 | LAMB3 | c.1942G>C (p.Val648Leu) c.1750G>C (p.Val584Leu) | |
| 1 | g.209625682C>T | CA344589083 | LAMB3 | c.1942G>A (p.Val648Met) c.1750G>A (p.Val584Met) | |
| 1 | g.209625683del | CA2586964551 | LAMB3 | c.1942del (p.Val648TrpfsTer?) c.1750del (p.Val584TrpfsTer?) | |
| 1 | g.209625683C>A | CA344589085 | LAMB3 | c.1941G>T (p.Glu647Asp) c.1749G>T (p.Glu583Asp) | |
| 1 | g.209625683C>G | CA344589086 | LAMB3 | c.1941G>C (p.Glu647Asp) c.1749G>C (p.Glu583Asp) | |
| 1 | g.209625683C>T | CA423142554 | LAMB3 | c.1941G>A (p.Glu647=) c.1749G>A (p.Glu583=) | |
| 1 | g.209625684T>A | CA344589087 | LAMB3 | c.1940A>T (p.Glu647Val) c.1748A>T (p.Glu583Val) | |
| 1 | g.209625684T>C | CA344589088 | LAMB3 | c.1940A>G (p.Glu647Gly) c.1748A>G (p.Glu583Gly) | gnomAD v4 |
| 1 | g.209625684T>G | CA344589089 | LAMB3 | c.1940A>C (p.Glu647Ala) c.1748A>C (p.Glu583Ala) | |
| 1 | g.209625685C>A | CA344589090 | LAMB3 | c.1939G>T (p.Glu647Ter) c.1747G>T (p.Glu583Ter) | ClinVar dbSNP |
| 1 | g.209625685C= | CA2484299197 | LAMB3 | c.1939G= (p.Glu647=) c.1747G= (p.Glu583=) | |
| 1 | g.209625685C>G | CA344589091 | LAMB3 | c.1939G>C (p.Glu647Gln) c.1747G>C (p.Glu583Gln) | |
| 1 | g.209625685C>T | CA344589092 | LAMB3 | c.1939G>A (p.Glu647Lys) c.1747G>A (p.Glu583Lys) | gnomAD v4 |
| 1 | g.209625686C>A | CA344589093 | LAMB3 | c.1938G>T (p.Gln646His) c.1746G>T (p.Gln582His) | |
| 1 | g.209625686C>G | CA344589094 | LAMB3 | c.1938G>C (p.Gln646His) c.1746G>C (p.Gln582His) | |
| 1 | g.209625686C>T | CA423142555 | LAMB3 | c.1938G>A (p.Gln646=) c.1746G>A (p.Gln582=) | gnomAD v4 |
| 1 | g.209625687T>A | CA344589097 | LAMB3 | c.1937A>T (p.Gln646Leu) c.1745A>T (p.Gln582Leu) | |
| 1 | g.209625687T>C | CA344589096 | LAMB3 | c.1937A>G (p.Gln646Arg) c.1745A>G (p.Gln582Arg) | gnomAD v4 |
| 1 | g.209625687T>G | CA344589095 | LAMB3 | c.1937A>C (p.Gln646Pro) c.1745A>C (p.Gln582Pro) | |
| 1 | g.209625688G>A | CA344589098 | LAMB3 | c.1936C>T (p.Gln646Ter) c.1744C>T (p.Gln582Ter) | gnomAD v4 |
| 1 | g.209625688G>C | CA344589099 | LAMB3 | c.1936C>G (p.Gln646Glu) c.1744C>G (p.Gln582Glu) | |
| 1 | g.209625688G>T | CA344589100 | LAMB3 | c.1936C>A (p.Gln646Lys) c.1744C>A (p.Gln582Lys) | gnomAD v4 |
| 1 | g.209625689C>A | CA344589101 | LAMB3 | c.1935G>T (p.Glu645Asp) c.1743G>T (p.Glu581Asp) | |
| 1 | g.209625689C>G | CA344589102 | LAMB3 | c.1935G>C (p.Glu645Asp) c.1743G>C (p.Glu581Asp) | |
| 1 | g.209625689C>T | CA423142558 | LAMB3 | c.1935G>A (p.Glu645=) c.1743G>A (p.Glu581=) | gnomAD v4 |
| 1 | g.209625690T>A | CA344589105 | LAMB3 | c.1934A>T (p.Glu645Val) c.1742A>T (p.Glu581Val) | |
| 1 | g.209625690T>C | CA344589104 | LAMB3 | c.1934A>G (p.Glu645Gly) c.1742A>G (p.Glu581Gly) | dbSNP |
| 1 | g.209625690T>G | CA344589103 | LAMB3 | c.1934A>C (p.Glu645Ala) c.1742A>C (p.Glu581Ala) | |
| 1 | g.209625690T= | CA2484299198 | LAMB3 | c.1934A= (p.Glu645=) c.1742A= (p.Glu581=) | |
| 1 | g.209625691C>A | CA344589106 | LAMB3 | c.1933G>T (p.Glu645Ter) c.1741G>T (p.Glu581Ter) | |
| 1 | g.209625691C>G | CA344589107 | LAMB3 | c.1933G>C (p.Glu645Gln) c.1741G>C (p.Glu581Gln) | |
| 1 | g.209625691C>T | CA344589108 | LAMB3 | c.1933G>A (p.Glu645Lys) c.1741G>A (p.Glu581Lys) | |
| 1 | g.209625692T>A | CA423142559 | LAMB3 | c.1932A>T (p.Thr644=) c.1740A>T (p.Thr580=) | |
| 1 | g.209625692T>C | CA423142560 | LAMB3 | c.1932A>G (p.Thr644=) c.1740A>G (p.Thr580=) | |
| 1 | g.209625692T>G | CA423142561 | LAMB3 | c.1932A>C (p.Thr644=) c.1740A>C (p.Thr580=) | |
| 1 | g.209625694_209625695del | CA2586964552 | LAMB3 | c.1931_1932del (p.Thr644ArgfsTer?) c.1739_1740del (p.Thr580ArgfsTer?) | |
| 1 | g.209625693G>A | CA344589109 | LAMB3 | c.1931C>T (p.Thr644Ile) c.1739C>T (p.Thr580Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625693G>C | CA344589110 | LAMB3 | c.1931C>G (p.Thr644Arg) c.1739C>G (p.Thr580Arg) | |
| 1 | g.209625693G= | CA2484299199 | LAMB3 | c.1931C= (p.Thr644=) c.1739C= (p.Thr580=) | |
| 1 | g.209625693G>T | CA344589111 | LAMB3 | c.1931C>A (p.Thr644Lys) c.1739C>A (p.Thr580Lys) | |
| 1 | g.209625694T>A | CA344589112 | LAMB3 | c.1930A>T (p.Thr644Ser) c.1738A>T (p.Thr580Ser) | |
| 1 | g.209625694T>C | CA344589114 | LAMB3 | c.1930A>G (p.Thr644Ala) c.1738A>G (p.Thr580Ala) | |
| 1 | g.209625694T>G | CA344589113 | LAMB3 | c.1930A>C (p.Thr644Pro) c.1738A>C (p.Thr580Pro) | |
| 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=) |