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.209623598_209623605delinsCTGCCGCA | CA2484298303 | LAMB3 | c.2258_2265delinsTGCGGCAG (p.Val753=) c.2066_2073delinsTGCGGCAG (p.Val689=) | |
| 1 | g.209623599T>A | CA344588387 | LAMB3 | c.2264A>T (p.Gln755Leu) c.2072A>T (p.Gln691Leu) | |
| 1 | g.209623599T>C | CA344588386 | LAMB3 | c.2264A>G (p.Gln755Arg) c.2072A>G (p.Gln691Arg) | gnomAD v4 |
| 1 | g.209623599T>G | CA344588385 | LAMB3 | c.2264A>C (p.Gln755Pro) c.2072A>C (p.Gln691Pro) | |
| 1 | g.209623599dup | CA1375307 | LAMB3 | c.2264dup (p.Ala756GlyfsTer24) c.2072dup (p.Ala692GlyfsTer24) | dbSNP ExAC |
| 1 | g.209623599_209623605del | CA36752605 | LAMB3 | c.2258_2264del (p.Val753GlyfsTer16) c.2066_2072del (p.Val689GlyfsTer16) | dbSNP COSMIC |
| 1 | g.209623600G>A | CA1375309 | LAMB3 | c.2263C>T (p.Gln755Ter) c.2071C>T (p.Gln691Ter) | dbSNP ExAC |
| 1 | g.209623600G>C | CA344588388 | LAMB3 | c.2263C>G (p.Gln755Glu) c.2071C>G (p.Gln691Glu) | |
| 1 | g.209623600G= | CA1148456108 | LAMB3 | c.2263C= (p.Gln755=) c.2071C= (p.Gln691=) | |
| 1 | g.209623600G>T | CA1375308 | LAMB3 | c.2263C>A (p.Gln755Lys) c.2071C>A (p.Gln691Lys) | dbSNP ExAC gnomAD v4 |
| 1 | g.209623600_209623606del | CA344588389 | LAMB3 | c.2257_2263del (p.Val753ArgfsTer16) c.2065_2071del (p.Val689ArgfsTer16) | |
| 1 | g.209623601C>A | CA423142135 | LAMB3 | c.2262G>T (p.Arg754=) c.2070G>T (p.Arg690=) | gnomAD v4 |
| 1 | g.209623601C= | CA2484298304 | LAMB3 | c.2262G= (p.Arg754=) c.2070G= (p.Arg690=) | |
| 1 | g.209623601C>G | CA423142137 | LAMB3 | c.2262G>C (p.Arg754=) c.2070G>C (p.Arg690=) | |
| 1 | g.209623601C>T | CA423142133 | LAMB3 | c.2262G>A (p.Arg754=) c.2070G>A (p.Arg690=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623602C>A | CA344588390 | LAMB3 | c.2261G>T (p.Arg754Leu) c.2069G>T (p.Arg690Leu) | |
| 1 | g.209623602C= | CA2484298305 | LAMB3 | c.2261G= (p.Arg754=) c.2069G= (p.Arg690=) | |
| 1 | g.209623602C>G | CA344588391 | LAMB3 | c.2261G>C (p.Arg754Pro) c.2069G>C (p.Arg690Pro) | |
| 1 | g.209623602C>T | CA36752609 | LAMB3 | c.2261G>A (p.Arg754Gln) c.2069G>A (p.Arg690Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623603G>A | CA1375310 | LAMB3 | c.2260C>T (p.Arg754Trp) c.2068C>T (p.Arg690Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623603G>C | CA1375311 | LAMB3 | c.2260C>G (p.Arg754Gly) c.2068C>G (p.Arg690Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623603G= | CA1140763001 | LAMB3 | c.2260C= (p.Arg754=) c.2068C= (p.Arg690=) | |
| 1 | g.209623603G>T | CA423142146 | LAMB3 | c.2260C>A (p.Arg754=) c.2068C>A (p.Arg690=) | dbSNP |
| 1 | g.209623604C>A | CA423142147 | LAMB3 | c.2259G>T (p.Val753=) c.2067G>T (p.Val689=) | |
| 1 | g.209623604C>G | CA423142148 | LAMB3 | c.2259G>C (p.Val753=) c.2067G>C (p.Val689=) | ClinVar dbSNP |
| 1 | g.209623604C>T | CA423142151 | LAMB3 | c.2259G>A (p.Val753=) c.2067G>A (p.Val689=) | ClinVar |
| 1 | g.209623605A= | CA1143524068 | LAMB3 | c.2258T= (p.Val753=) c.2066T= (p.Val689=) | |
| 1 | g.209623605A>C | CA1375312 | LAMB3 | c.2258T>G (p.Val753Gly) c.2066T>G (p.Val689Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623605A>G | CA344588393 | LAMB3 | c.2258T>C (p.Val753Ala) c.2066T>C (p.Val689Ala) | |
| 1 | g.209623605A>T | CA344588392 | LAMB3 | c.2258T>A (p.Val753Glu) c.2066T>A (p.Val689Glu) | |
| 1 | g.209623605_209623606insAGCTTGTGGC | CA2580061969 | LAMB3 | c.2257_2258insGCCACAAGCT (p.Val753GlyfsTer30) c.2065_2066insGCCACAAGCT (p.Val689GlyfsTer30) | ClinVar |
| 1 | g.209623606C>A | CA344588396 | LAMB3 | c.2257G>T (p.Val753Leu) c.2065G>T (p.Val689Leu) | |
| 1 | g.209623606C>G | CA344588395 | LAMB3 | c.2257G>C (p.Val753Leu) c.2065G>C (p.Val689Leu) | |
| 1 | g.209623606C>T | CA344588394 | LAMB3 | c.2257G>A (p.Val753Met) c.2065G>A (p.Val689Met) | gnomAD v4 |
| 1 | g.209623607_209623608insCAACCCCC | CA1375313 | LAMB3 | c.2257_2258insGGGTTGGG (p.Val753GlyfsTer21) c.2065_2066insGGGTTGGG (p.Val689GlyfsTer21) | dbSNP ExAC |
| 1 | g.209623607C>A | CA423142160 | LAMB3 | c.2256G>T (p.Leu752=) c.2064G>T (p.Leu688=) | ClinVar gnomAD v4 |
| 1 | g.209623607C= | CA1142420056 | LAMB3 | c.2256G= (p.Leu752=) c.2064G= (p.Leu688=) | |
| 1 | g.209623607C>G | CA36752625 | LAMB3 | c.2256G>C (p.Leu752=) c.2064G>C (p.Leu688=) | dbSNP |
| 1 | g.209623607C>T | CA1375314 | LAMB3 | c.2256G>A (p.Leu752=) c.2064G>A (p.Leu688=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623608A= | CA2484298306 | LAMB3 | c.2255T= (p.Leu752=) c.2063T= (p.Leu688=) | |
| 1 | g.209623608A>C | CA344588397 | LAMB3 | c.2255T>G (p.Leu752Arg) c.2063T>G (p.Leu688Arg) | |
| 1 | g.209623608A>G | CA344588398 | LAMB3 | c.2255T>C (p.Leu752Pro) c.2063T>C (p.Leu688Pro) | |
| 1 | g.209623608A>T | CA344588399 | LAMB3 | c.2255T>A (p.Leu752Gln) c.2063T>A (p.Leu688Gln) | gnomAD v4 |
| 1 | g.209623609G>A | CA423142162 | LAMB3 | c.2254C>T (p.Leu752=) c.2062C>T (p.Leu688=) | |
| 1 | g.209623609G>C | CA344588400 | LAMB3 | c.2254C>G (p.Leu752Val) c.2062C>G (p.Leu688Val) | |
| 1 | g.209623609G>T | CA344588401 | LAMB3 | c.2254C>A (p.Leu752Met) c.2062C>A (p.Leu688Met) | |
| 1 | g.209623617_209623624dup | CA529000122 | LAMB3 | c.2247_2254dup (p.Leu752GlnfsTer22) c.2055_2062dup (p.Leu688GlnfsTer22) | dbSNP gnomAD v2 |
| 1 | g.209623610C>A | CA344588402 | LAMB3 | c.2253G>T (p.Arg751Ser) c.2061G>T (p.Arg687Ser) | dbSNP |
| 1 | g.209623610C= | CA2484298307 | LAMB3 | c.2253G= (p.Arg751=) c.2061G= (p.Arg687=) | |
| 1 | g.209623610C>G | CA1375315 | LAMB3 | c.2253G>C (p.Arg751Ser) c.2061G>C (p.Arg687Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.209623610C>T | CA423142173 | LAMB3 | c.2253G>A (p.Arg751=) c.2061G>A (p.Arg687=) | |
| 1 | g.209623611C>A | CA344588403 | LAMB3 | c.2252G>T (p.Arg751Met) c.2060G>T (p.Arg687Met) | |
| 1 | g.209623611C>G | CA344588404 | LAMB3 | c.2252G>C (p.Arg751Thr) c.2060G>C (p.Arg687Thr) | |
| 1 | g.209623611C>T | CA344588405 | LAMB3 | c.2252G>A (p.Arg751Lys) c.2060G>A (p.Arg687Lys) | |
| 1 | g.209623612T>A | CA344588406 | LAMB3 | c.2251A>T (p.Arg751Trp) c.2059A>T (p.Arg687Trp) | |
| 1 | g.209623612T>C | CA344588407 | LAMB3 | c.2251A>G (p.Arg751Gly) c.2059A>G (p.Arg687Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623612T>G | CA423142175 | LAMB3 | c.2251A>C (p.Arg751=) c.2059A>C (p.Arg687=) | |
| 1 | g.209623612T= | CA2484298308 | LAMB3 | c.2251A= (p.Arg751=) c.2059A= (p.Arg687=) | |
| 1 | g.209623613C>A | CA344588408 | LAMB3 | c.2250G>T (p.Glu750Asp) c.2058G>T (p.Glu686Asp) | |
| 1 | g.209623613C= | CA1142403410 | LAMB3 | c.2250G= (p.Glu750=) c.2058G= (p.Glu686=) | |
| 1 | g.209623613C>G | CA344588409 | LAMB3 | c.2250G>C (p.Glu750Asp) c.2058G>C (p.Glu686Asp) | |
| 1 | g.209623613C>T | CA1375316 | LAMB3 | c.2250G>A (p.Glu750=) c.2058G>A (p.Glu686=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623614T>A | CA344588410 | LAMB3 | c.2249A>T (p.Glu750Val) c.2057A>T (p.Glu686Val) | |
| 1 | g.209623614T>C | CA344588411 | LAMB3 | c.2249A>G (p.Glu750Gly) c.2057A>G (p.Glu686Gly) | |
| 1 | g.209623614T>G | CA344588412 | LAMB3 | c.2249A>C (p.Glu750Ala) c.2057A>C (p.Glu686Ala) | |
| 1 | g.209623615C>A | CA344588413 | LAMB3 | c.2248G>T (p.Glu750Ter) c.2056G>T (p.Glu686Ter) | |
| 1 | g.209623615C= | CA2484298309 | LAMB3 | c.2248G= (p.Glu750=) c.2056G= (p.Glu686=) | |
| 1 | g.209623615C>G | CA344588414 | LAMB3 | c.2248G>C (p.Glu750Gln) c.2056G>C (p.Glu686Gln) | |
| 1 | g.209623615C>T | CA344588415 | LAMB3 | c.2248G>A (p.Glu750Lys) c.2056G>A (p.Glu686Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623616T>A | CA423142186 | LAMB3 | c.2247A>T (p.Ala749=) c.2055A>T (p.Ala685=) | |
| 1 | g.209623616T>C | CA423142189 | LAMB3 | c.2247A>G (p.Ala749=) c.2055A>G (p.Ala685=) | |
| 1 | g.209623616T>G | CA423142190 | LAMB3 | c.2247A>C (p.Ala749=) c.2055A>C (p.Ala685=) | |
| 1 | g.209623617G>A | CA344588416 | LAMB3 | c.2246C>T (p.Ala749Val) c.2054C>T (p.Ala685Val) | |
| 1 | g.209623617G>C | CA344588417 | LAMB3 | c.2246C>G (p.Ala749Gly) c.2054C>G (p.Ala685Gly) | |
| 1 | g.209623617G>T | CA344588418 | LAMB3 | c.2246C>A (p.Ala749Glu) c.2054C>A (p.Ala685Glu) | |
| 1 | g.209623618C>A | CA344588419 | LAMB3 | c.2245G>T (p.Ala749Ser) c.2053G>T (p.Ala685Ser) | |
| 1 | g.209623618C>G | CA344588421 | LAMB3 | c.2245G>C (p.Ala749Pro) c.2053G>C (p.Ala685Pro) | |
| 1 | g.209623618C>T | CA344588420 | LAMB3 | c.2245G>A (p.Ala749Thr) c.2053G>A (p.Ala685Thr) | |
| 1 | g.209623619C>A | CA344588422 | LAMB3 | c.2244G>T (p.Glu748Asp) c.2052G>T (p.Glu684Asp) | |
| 1 | g.209623619C= | CA2484298310 | LAMB3 | c.2244G= (p.Glu748=) c.2052G= (p.Glu684=) | |
| 1 | g.209623619C>G | CA344588423 | LAMB3 | c.2244G>C (p.Glu748Asp) c.2052G>C (p.Glu684Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623619C>T | CA1375317 | LAMB3 | c.2244G>A (p.Glu748=) c.2052G>A (p.Glu684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623620T>A | CA344588424 | LAMB3 | c.2243A>T (p.Glu748Val) c.2051A>T (p.Glu684Val) | |
| 1 | g.209623620T>C | CA344588425 | LAMB3 | c.2243A>G (p.Glu748Gly) c.2051A>G (p.Glu684Gly) | |
| 1 | g.209623620T>G | CA344588426 | LAMB3 | c.2243A>C (p.Glu748Ala) c.2051A>C (p.Glu684Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623620T= | CA2484298311 | LAMB3 | c.2243A= (p.Glu748=) c.2051A= (p.Glu684=) | |
| 1 | g.209623621C>A | CA344588427 | LAMB3 | c.2242G>T (p.Glu748Ter) c.2050G>T (p.Glu684Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623621C= | CA1143643205 | LAMB3 | c.2242G= (p.Glu748=) c.2050G= (p.Glu684=) | |
| 1 | g.209623621C>G | CA344588428 | LAMB3 | c.2242G>C (p.Glu748Gln) c.2050G>C (p.Glu684Gln) | |
| 1 | g.209623621C>T | CA36752634 | LAMB3 | c.2242G>A (p.Glu748Lys) c.2050G>A (p.Glu684Lys) | dbSNP COSMIC |
| 1 | g.209623622T>A | CA344588429 | LAMB3 | c.2241A>T (p.Arg747Ser) c.2049A>T (p.Arg683Ser) | |
| 1 | g.209623622T>C | CA423142218 | LAMB3 | c.2241A>G (p.Arg747=) c.2049A>G (p.Arg683=) | dbSNP gnomAD v2 |
| 1 | g.209623622T>G | CA1375318 | LAMB3 | c.2241A>C (p.Arg747Ser) c.2049A>C (p.Arg683Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623622T= | CA1143372805 | LAMB3 | c.2241A= (p.Arg747=) c.2049A= (p.Arg683=) | |
| 1 | g.209623623C>A | CA344588432 | LAMB3 | c.2240G>T (p.Arg747Ile) c.2048G>T (p.Arg683Ile) | |
| 1 | g.209623623C= | CA2484298312 | LAMB3 | c.2240G= (p.Arg747=) c.2048G= (p.Arg683=) | |
| 1 | g.209623623C>G | CA344588431 | LAMB3 | c.2240G>C (p.Arg747Thr) c.2048G>C (p.Arg683Thr) | |
| 1 | g.209623623C>T | CA344588430 | LAMB3 | c.2240G>A (p.Arg747Lys) c.2048G>A (p.Arg683Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623624T>A | CA344588433 | LAMB3 | c.2239A>T (p.Arg747Ter) c.2047A>T (p.Arg683Ter) | |
| 1 | g.209623624T>C | CA344588434 | LAMB3 | c.2239A>G (p.Arg747Gly) c.2047A>G (p.Arg683Gly) | |
| 1 | g.209623624T>G | CA423142230 | LAMB3 | c.2239A>C (p.Arg747=) c.2047A>C (p.Arg683=) | |
| 1 | g.209623625C>A | CA423142232 | LAMB3 | c.2238G>T (p.Arg746=) c.2046G>T (p.Arg682=) | |
| 1 | g.209623625C>G | CA423142233 | LAMB3 | c.2238G>C (p.Arg746=) c.2046G>C (p.Arg682=) | ClinVar dbSNP |
| 1 | g.209623625C>T | CA423142235 | LAMB3 | c.2238G>A (p.Arg746=) c.2046G>A (p.Arg682=) | |
| 1 | g.209623626C>A | CA344588435 | LAMB3 | c.2237G>T (p.Arg746Leu) c.2045G>T (p.Arg682Leu) | |
| 1 | g.209623626C= | CA1143910767 | LAMB3 | c.2237G= (p.Arg746=) c.2045G= (p.Arg682=) | |
| 1 | g.209623626C>G | CA344588436 | LAMB3 | c.2237G>C (p.Arg746Pro) c.2045G>C (p.Arg682Pro) | |
| 1 | g.209623626C>T | CA1375319 | LAMB3 | c.2237G>A (p.Arg746Gln) c.2045G>A (p.Arg682Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623627G>A | CA1375320 | LAMB3 | c.2236C>T (p.Arg746Trp) c.2044C>T (p.Arg682Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623627G>C | CA344588437 | LAMB3 | c.2236C>G (p.Arg746Gly) c.2044C>G (p.Arg682Gly) | gnomAD v4 |
| 1 | g.209623627G= | CA2484298313 | LAMB3 | c.2236C= (p.Arg746=) c.2044C= (p.Arg682=) | |
| 1 | g.209623627G>T | CA423142238 | LAMB3 | c.2236C>A (p.Arg746=) c.2044C>A (p.Arg682=) | |
| 1 | g.209623628G>A | CA423142240 | LAMB3 | c.2235C>T (p.Ser745=) c.2043C>T (p.Ser681=) | dbSNP |
| 1 | g.209623628G>C | CA344588438 | LAMB3 | c.2235C>G (p.Ser745Arg) c.2043C>G (p.Ser681Arg) | |
| 1 | g.209623628G= | CA2484298314 | LAMB3 | c.2235C= (p.Ser745=) c.2043C= (p.Ser681=) | |
| 1 | g.209623628G>T | CA344588439 | LAMB3 | c.2235C>A (p.Ser745Arg) c.2043C>A (p.Ser681Arg) | |
| 1 | g.209623629C>A | CA344588440 | LAMB3 | c.2234G>T (p.Ser745Ile) c.2042G>T (p.Ser681Ile) | |
| 1 | g.209623629C>G | CA344588441 | LAMB3 | c.2234G>C (p.Ser745Thr) c.2042G>C (p.Ser681Thr) | |
| 1 | g.209623629C>T | CA344588442 | LAMB3 | c.2234G>A (p.Ser745Asn) c.2042G>A (p.Ser681Asn) | |
| 1 | g.209623630T>A | CA344588445 | LAMB3 | c.2233A>T (p.Ser745Cys) c.2041A>T (p.Ser681Cys) | gnomAD v4 COSMIC |
| 1 | g.209623630T>C | CA344588444 | LAMB3 | c.2233A>G (p.Ser745Gly) c.2041A>G (p.Ser681Gly) | |
| 1 | g.209623630T>G | CA344588443 | LAMB3 | c.2233A>C (p.Ser745Arg) c.2041A>C (p.Ser681Arg) | |
| 1 | g.209623631G>A | CA423142244 | LAMB3 | c.2232C>T (p.Asp744=) c.2040C>T (p.Asp680=) | |
| 1 | g.209623631G>C | CA344588447 | LAMB3 | c.2232C>G (p.Asp744Glu) c.2040C>G (p.Asp680Glu) | |
| 1 | g.209623631G>T | CA344588446 | LAMB3 | c.2232C>A (p.Asp744Glu) c.2040C>A (p.Asp680Glu) | |
| 1 | g.209623632T>A | CA344588450 | LAMB3 | c.2231A>T (p.Asp744Val) c.2039A>T (p.Asp680Val) | |
| 1 | g.209623632T>C | CA344588448 | LAMB3 | c.2231A>G (p.Asp744Gly) c.2039A>G (p.Asp680Gly) | |
| 1 | g.209623632T>G | CA344588449 | LAMB3 | c.2231A>C (p.Asp744Ala) c.2039A>C (p.Asp680Ala) | |
| 1 | g.209623633C>A | CA344588451 | LAMB3 | c.2230G>T (p.Asp744Tyr) c.2038G>T (p.Asp680Tyr) | |
| 1 | g.209623633C>G | CA344588452 | LAMB3 | c.2230G>C (p.Asp744His) c.2038G>C (p.Asp680His) | |
| 1 | g.209623633C>T | CA344588453 | LAMB3 | c.2230G>A (p.Asp744Asn) c.2038G>A (p.Asp680Asn) | |
| 1 | g.209623634C>A | CA344588454 | LAMB3 | c.2229G>T (p.Arg743Ser) c.2037G>T (p.Arg679Ser) | |
| 1 | g.209623634C= | CA2484298315 | LAMB3 | c.2229G= (p.Arg743=) c.2037G= (p.Arg679=) | |
| 1 | g.209623634C>G | CA344588455 | LAMB3 | c.2229G>C (p.Arg743Ser) c.2037G>C (p.Arg679Ser) | |
| 1 | g.209623634C>T | CA423142257 | LAMB3 | c.2229G>A (p.Arg743=) c.2037G>A (p.Arg679=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623635C>A | CA344588456 | LAMB3 | c.2228G>T (p.Arg743Met) c.2036G>T (p.Arg679Met) | |
| 1 | g.209623635C= | CA2484298316 | LAMB3 | c.2228G= (p.Arg743=) c.2036G= (p.Arg679=) | |
| 1 | g.209623635C>G | CA344588457 | LAMB3 | c.2228G>C (p.Arg743Thr) c.2036G>C (p.Arg679Thr) | |
| 1 | g.209623635C>T | CA344588458 | LAMB3 | c.2228G>A (p.Arg743Lys) c.2036G>A (p.Arg679Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623636T>A | CA344588459 | LAMB3 | c.2227A>T (p.Arg743Trp) c.2035A>T (p.Arg679Trp) | |
| 1 | g.209623636T>C | CA344588460 | LAMB3 | c.2227A>G (p.Arg743Gly) c.2035A>G (p.Arg679Gly) | gnomAD v4 |
| 1 | g.209623636T>G | CA423142263 | LAMB3 | c.2227A>C (p.Arg743=) c.2035A>C (p.Arg679=) | gnomAD v4 |
| 1 | g.209623637G>A | CA423142264 | LAMB3 | c.2226C>T (p.Leu742=) c.2034C>T (p.Leu678=) | COSMIC |
| 1 | g.209623637G>C | CA423142266 | LAMB3 | c.2226C>G (p.Leu742=) c.2034C>G (p.Leu678=) | |
| 1 | g.209623637G>T | CA423142270 | LAMB3 | c.2226C>A (p.Leu742=) c.2034C>A (p.Leu678=) | |
| 1 | g.209623638A>C | CA344588463 | LAMB3 | c.2225T>G (p.Leu742Arg) c.2033T>G (p.Leu678Arg) | |
| 1 | g.209623638A>G | CA344588461 | LAMB3 | c.2225T>C (p.Leu742Pro) c.2033T>C (p.Leu678Pro) | |
| 1 | g.209623638A>T | CA344588462 | LAMB3 | c.2225T>A (p.Leu742His) c.2033T>A (p.Leu678His) | |
| 1 | g.209623639G>A | CA344588464 | LAMB3 | c.2224C>T (p.Leu742Phe) c.2032C>T (p.Leu678Phe) | gnomAD v4 |
| 1 | g.209623639G>C | CA344588465 | LAMB3 | c.2224C>G (p.Leu742Val) c.2032C>G (p.Leu678Val) | |
| 1 | g.209623639G>T | CA344588466 | LAMB3 | c.2224C>A (p.Leu742Ile) c.2032C>A (p.Leu678Ile) | |
| 1 | g.209623640C>A | CA344588467 | LAMB3 | c.2223G>T (p.Gln741His) c.2031G>T (p.Gln677His) | gnomAD v4 |
| 1 | g.209623640C>G | CA344588468 | LAMB3 | c.2223G>C (p.Gln741His) c.2031G>C (p.Gln677His) | gnomAD v4 |
| 1 | g.209623640C>T | CA423142281 | LAMB3 | c.2223G>A (p.Gln741=) c.2031G>A (p.Gln677=) | COSMIC |
| 1 | g.209623641T>A | CA344588469 | LAMB3 | c.2222A>T (p.Gln741Leu) c.2030A>T (p.Gln677Leu) | gnomAD v4 |
| 1 | g.209623641T>C | CA344588470 | LAMB3 | c.2222A>G (p.Gln741Arg) c.2030A>G (p.Gln677Arg) | gnomAD v4 |
| 1 | g.209623641T>G | CA344588471 | LAMB3 | c.2222A>C (p.Gln741Pro) c.2030A>C (p.Gln677Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623641T= | CA2484298317 | LAMB3 | c.2222A= (p.Gln741=) c.2030A= (p.Gln677=) | |
| 1 | g.209623642G>A | CA344588472 | LAMB3 | c.2221C>T (p.Gln741Ter) c.2029C>T (p.Gln677Ter) | |
| 1 | g.209623642G>C | CA344588473 | LAMB3 | c.2221C>G (p.Gln741Glu) c.2029C>G (p.Gln677Glu) | |
| 1 | g.209623642G>T | CA344588474 | LAMB3 | c.2221C>A (p.Gln741Lys) c.2029C>A (p.Gln677Lys) | |
| 1 | g.209623643G>A | CA1375321 | LAMB3 | c.2220C>T (p.Asp740=) c.2028C>T (p.Asp676=) | dbSNP ExAC gnomAD v2 |
| 1 | g.209623643G>C | CA344588476 | LAMB3 | c.2220C>G (p.Asp740Glu) c.2028C>G (p.Asp676Glu) | |
| 1 | g.209623643G= | CA2484298318 | LAMB3 | c.2220C= (p.Asp740=) c.2028C= (p.Asp676=) | |
| 1 | g.209623643G>T | CA344588475 | LAMB3 | c.2220C>A (p.Asp740Glu) c.2028C>A (p.Asp676Glu) | |
| 1 | g.209623644T>A | CA344588477 | LAMB3 | c.2219A>T (p.Asp740Val) c.2027A>T (p.Asp676Val) | |
| 1 | g.209623644T>C | CA344588478 | LAMB3 | c.2219A>G (p.Asp740Gly) c.2027A>G (p.Asp676Gly) | |
| 1 | g.209623644T>G | CA344588479 | LAMB3 | c.2219A>C (p.Asp740Ala) c.2027A>C (p.Asp676Ala) | |
| 1 | g.209623645C>A | CA1375323 | LAMB3 | c.2218G>T (p.Asp740Tyr) c.2026G>T (p.Asp676Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623645C= | CA2484298319 | LAMB3 | c.2218G= (p.Asp740=) c.2026G= (p.Asp676=) | |
| 1 | g.209623645C>G | CA1375322 | LAMB3 | c.2218G>C (p.Asp740His) c.2026G>C (p.Asp676His) | dbSNP ExAC gnomAD v4 |
| 1 | g.209623645C>T | CA344588480 | LAMB3 | c.2218G>A (p.Asp740Asn) c.2026G>A (p.Asp676Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623646C>A | CA344588481 | LAMB3 | c.2217G>T (p.Leu739Phe) c.2025G>T (p.Leu675Phe) | |
| 1 | g.209623646C>G | CA344588482 | LAMB3 | c.2217G>C (p.Leu739Phe) c.2025G>C (p.Leu675Phe) | |
| 1 | g.209623646C>T | CA423142312 | LAMB3 | c.2217G>A (p.Leu739=) c.2025G>A (p.Leu675=) | gnomAD v4 |
| 1 | g.209623647A>C | CA344588483 | LAMB3 | c.2216T>G (p.Leu739Trp) c.2024T>G (p.Leu675Trp) | |
| 1 | g.209623647A>G | CA344588484 | LAMB3 | c.2216T>C (p.Leu739Ser) c.2024T>C (p.Leu675Ser) | |
| 1 | g.209623647A>T | CA344588485 | LAMB3 | c.2216T>A (p.Leu739Ter) c.2024T>A (p.Leu675Ter) | |
| 1 | g.209623648A>C | CA344588486 | LAMB3 | c.2215T>G (p.Leu739Val) c.2023T>G (p.Leu675Val) | |
| 1 | g.209623648A>G | CA423142319 | LAMB3 | c.2215T>C (p.Leu739=) c.2023T>C (p.Leu675=) | |
| 1 | g.209623648A>T | CA344588487 | LAMB3 | c.2215T>A (p.Leu739Met) c.2023T>A (p.Leu675Met) | |
| 1 | g.209623649A>C | CA423142320 | LAMB3 | c.2214T>G (p.Leu738=) c.2022T>G (p.Leu674=) | |
| 1 | g.209623649A>G | CA423142322 | LAMB3 | c.2214T>C (p.Leu738=) c.2022T>C (p.Leu674=) | |
| 1 | g.209623649A>T | CA423142325 | LAMB3 | c.2214T>A (p.Leu738=) c.2022T>A (p.Leu674=) | |
| 1 | g.209623650A>C | CA344588490 | LAMB3 | c.2213T>G (p.Leu738Arg) c.2021T>G (p.Leu674Arg) | |
| 1 | g.209623650A>G | CA344588489 | LAMB3 | c.2213T>C (p.Leu738Pro) c.2021T>C (p.Leu674Pro) | |
| 1 | g.209623650A>T | CA344588488 | LAMB3 | c.2213T>A (p.Leu738His) c.2021T>A (p.Leu674His) | |
| 1 | g.209623651G>A | CA344588491 | LAMB3 | c.2212C>T (p.Leu738Phe) c.2020C>T (p.Leu674Phe) | gnomAD v4 |
| 1 | g.209623651G>C | CA344588492 | LAMB3 | c.2212C>G (p.Leu738Val) c.2020C>G (p.Leu674Val) | |
| 1 | g.209623651G= | CA1148426477 | LAMB3 | c.2212C= (p.Leu738=) c.2020C= (p.Leu674=) | |
| 1 | g.209623651G>T | CA36752664 | LAMB3 | c.2212C>A (p.Leu738Ile) c.2020C>A (p.Leu674Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623652G>A | CA423142334 | LAMB3 | c.2211C>T (p.Arg737=) c.2019C>T (p.Arg673=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623652G>C | CA423142335 | LAMB3 | c.2211C>G (p.Arg737=) c.2019C>G (p.Arg673=) | |
| 1 | g.209623652G>T | CA423142336 | LAMB3 | c.2211C>A (p.Arg737=) c.2019C>A (p.Arg673=) | |
| 1 | g.209623653C>A | CA344588493 | LAMB3 | c.2210G>T (p.Arg737Leu) c.2018G>T (p.Arg673Leu) | |
| 1 | g.209623653C= | CA2484298320 | LAMB3 | c.2210G= (p.Arg737=) c.2018G= (p.Arg673=) | |
| 1 | g.209623653C>G | CA344588494 | LAMB3 | c.2210G>C (p.Arg737Pro) c.2018G>C (p.Arg673Pro) | |
| 1 | g.209623653C>T | CA1375324 | LAMB3 | c.2210G>A (p.Arg737His) c.2018G>A (p.Arg673His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623654G>A | CA1375326 | LAMB3 | c.2209C>T (p.Arg737Cys) c.2017C>T (p.Arg673Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623654G>C | CA344588495 | LAMB3 | c.2209C>G (p.Arg737Gly) c.2017C>G (p.Arg673Gly) | |
| 1 | g.209623654G= | CA2484298321 | LAMB3 | c.2209C= (p.Arg737=) c.2017C= (p.Arg673=) | |
| 1 | g.209623654G>T | CA1375325 | LAMB3 | c.2209C>A (p.Arg737Ser) c.2017C>A (p.Arg673Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623655C>A | CA423142352 | LAMB3 | c.2208G>T (p.Ser736=) c.2016G>T (p.Ser672=) | |
| 1 | g.209623655C= | CA2484298322 | LAMB3 | c.2208G= (p.Ser736=) c.2016G= (p.Ser672=) | |
| 1 | g.209623655C>G | CA423142354 | LAMB3 | c.2208G>C (p.Ser736=) c.2016G>C (p.Ser672=) | |
| 1 | g.209623655C>T | CA1375327 | LAMB3 | c.2208G>A (p.Ser736=) c.2016G>A (p.Ser672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209623656G>A | CA1375328 | LAMB3 | c.2207C>T (p.Ser736Leu) c.2015C>T (p.Ser672Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623656G>C | CA344588496 | LAMB3 | c.2207C>G (p.Ser736Trp) c.2015C>G (p.Ser672Trp) | |
| 1 | g.209623656G= | CA2484298323 | LAMB3 | c.2207C= (p.Ser736=) c.2015C= (p.Ser672=) | |
| 1 | g.209623656G>T | CA344588497 | LAMB3 | c.2207C>A (p.Ser736Ter) c.2015C>A (p.Ser672Ter) | |
| 1 | g.209623657A>C | CA344588499 | LAMB3 | c.2206T>G (p.Ser736Ala) c.2014T>G (p.Ser672Ala) | |
| 1 | g.209623657A>G | CA344588500 | LAMB3 | c.2206T>C (p.Ser736Pro) c.2014T>C (p.Ser672Pro) | |
| 1 | g.209623657A>T | CA344588498 | LAMB3 | c.2206T>A (p.Ser736Thr) c.2014T>A (p.Ser672Thr) | |
| 1 | g.209623658G>A | CA1375329 | LAMB3 | c.2205C>T (p.Ser735=) c.2013C>T (p.Ser671=) | ClinVar dbSNP ExAC |
| 1 | g.209623658G>C | CA344588502 | LAMB3 | c.2205C>G (p.Ser735Arg) c.2013C>G (p.Ser671Arg) | |
| 1 | g.209623658G= | CA1148239941 | LAMB3 | c.2205C= (p.Ser735=) c.2013C= (p.Ser671=) | |
| 1 | g.209623658G>T | CA344588501 | LAMB3 | c.2205C>A (p.Ser735Arg) c.2013C>A (p.Ser671Arg) | |
| 1 | g.209623659C>A | CA344588503 | LAMB3 | c.2204G>T (p.Ser735Ile) c.2012G>T (p.Ser671Ile) | |
| 1 | g.209623659C>G | CA344588505 | LAMB3 | c.2204G>C (p.Ser735Thr) c.2012G>C (p.Ser671Thr) | |
| 1 | g.209623659C>T | CA344588504 | LAMB3 | c.2204G>A (p.Ser735Asn) c.2012G>A (p.Ser671Asn) | gnomAD v4 COSMIC |
| 1 | g.209623660T>A | CA344588506 | LAMB3 | c.2203A>T (p.Ser735Cys) c.2011A>T (p.Ser671Cys) | |
| 1 | g.209623660T>C | CA344588507 | LAMB3 | c.2203A>G (p.Ser735Gly) c.2011A>G (p.Ser671Gly) | |
| 1 | g.209623660T>G | CA344588508 | LAMB3 | c.2203A>C (p.Ser735Arg) c.2011A>C (p.Ser671Arg) | |
| 1 | g.209623661G>A | CA1375330 | LAMB3 | c.2202C>T (p.Asp734=) c.2010C>T (p.Asp670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623661G>C | CA344588509 | LAMB3 | c.2202C>G (p.Asp734Glu) c.2010C>G (p.Asp670Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623661G= | CA1141760884 | LAMB3 | c.2202C= (p.Asp734=) c.2010C= (p.Asp670=) | |
| 1 | g.209623661G>T | CA344588510 | LAMB3 | c.2202C>A (p.Asp734Glu) c.2010C>A (p.Asp670Glu) | |
| 1 | g.209623662T>A | CA344588511 | LAMB3 | c.2201A>T (p.Asp734Val) c.2009A>T (p.Asp670Val) | gnomAD v4 |
| 1 | g.209623662T>C | CA344588512 | LAMB3 | c.2201A>G (p.Asp734Gly) c.2009A>G (p.Asp670Gly) | dbSNP |
| 1 | g.209623662T>G | CA344588513 | LAMB3 | c.2201A>C (p.Asp734Ala) c.2009A>C (p.Asp670Ala) | |
| 1 | g.209623662T= | CA2484298324 | LAMB3 | c.2201A= (p.Asp734=) c.2009A= (p.Asp670=) | |
| 1 | g.209623663C>A | CA344588514 | LAMB3 | c.2200G>T (p.Asp734Tyr) c.2008G>T (p.Asp670Tyr) | |
| 1 | g.209623663C= | CA1144103643 | LAMB3 | c.2200G= (p.Asp734=) c.2008G= (p.Asp670=) | |
| 1 | g.209623663C>G | CA344588515 | LAMB3 | c.2200G>C (p.Asp734His) c.2008G>C (p.Asp670His) | |
| 1 | g.209623663C>T | CA1375331 | LAMB3 | c.2200G>A (p.Asp734Asn) c.2008G>A (p.Asp670Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623664G>A | CA1375332 | LAMB3 | c.2199C>T (p.Ser733=) c.2007C>T (p.Ser669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623664G>C | CA423142379 | LAMB3 | c.2199C>G (p.Ser733=) c.2007C>G (p.Ser669=) | |
| 1 | g.209623664G= | CA1149039466 | LAMB3 | c.2199C= (p.Ser733=) c.2007C= (p.Ser669=) | |
| 1 | g.209623664G>T | CA423142381 | LAMB3 | c.2199C>A (p.Ser733=) c.2007C>A (p.Ser669=) | |
| 1 | g.209623665G>A | CA1375333 | LAMB3 | c.2198C>T (p.Ser733Phe) c.2006C>T (p.Ser669Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623665G>C | CA344588516 | LAMB3 | c.2198C>G (p.Ser733Cys) c.2006C>G (p.Ser669Cys) | dbSNP gnomAD v4 |
| 1 | g.209623665G= | CA2484298325 | LAMB3 | c.2198C= (p.Ser733=) c.2006C= (p.Ser669=) | |
| 1 | g.209623665G>T | CA344588517 | LAMB3 | c.2198C>A (p.Ser733Tyr) c.2006C>A (p.Ser669Tyr) | |
| 1 | g.209623666A= | CA1145769360 | LAMB3 | c.2197T= (p.Ser733=) c.2005T= (p.Ser669=) | |
| 1 | g.209623666A>C | CA344588518 | LAMB3 | c.2197T>G (p.Ser733Ala) c.2005T>G (p.Ser669Ala) | |
| 1 | g.209623666A>G | CA1375334 | LAMB3 | c.2197T>C (p.Ser733Pro) c.2005T>C (p.Ser669Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623666A>T | CA344588519 | LAMB3 | c.2197T>A (p.Ser733Thr) c.2005T>A (p.Ser669Thr) | |
| 1 | g.209623667G>A | CA423142390 | LAMB3 | c.2196C>T (p.Val732=) c.2004C>T (p.Val668=) | |
| 1 | g.209623667G>C | CA423142392 | LAMB3 | c.2196C>G (p.Val732=) c.2004C>G (p.Val668=) | ClinVar dbSNP |
| 1 | g.209623667G= | CA2484298326 | LAMB3 | c.2196C= (p.Val732=) c.2004C= (p.Val668=) | |
| 1 | g.209623667G>T | CA423142393 | LAMB3 | c.2196C>A (p.Val732=) c.2004C>A (p.Val668=) | |
| 1 | g.209623668A= | CA2484298327 | LAMB3 | c.2195T= (p.Val732=) c.2003T= (p.Val668=) | |
| 1 | g.209623668A>C | CA344588520 | LAMB3 | c.2195T>G (p.Val732Gly) c.2003T>G (p.Val668Gly) | |
| 1 | g.209623668A>G | CA344588521 | LAMB3 | c.2195T>C (p.Val732Ala) c.2003T>C (p.Val668Ala) | |
| 1 | g.209623668A>T | CA1375335 | LAMB3 | c.2195T>A (p.Val732Asp) c.2003T>A (p.Val668Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.209623669C>A | CA344588522 | LAMB3 | c.2194G>T (p.Val732Phe) c.2002G>T (p.Val668Phe) | |
| 1 | g.209623669C= | CA1143809261 | LAMB3 | c.2194G= (p.Val732=) c.2002G= (p.Val668=) | |
| 1 | g.209623669C>G | CA1375336 | LAMB3 | c.2194G>C (p.Val732Leu) c.2002G>C (p.Val668Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623669C>T | CA344588523 | LAMB3 | c.2194G>A (p.Val732Ile) c.2002G>A (p.Val668Ile) | |
| 1 | g.209623670C>A | CA344588525 | LAMB3 | c.2193G>T (p.Gln731His) c.2001G>T (p.Gln667His) | |
| 1 | g.209623670C>G | CA344588524 | LAMB3 | c.2193G>C (p.Gln731His) c.2001G>C (p.Gln667His) | |
| 1 | g.209623670C>T | CA423142407 | LAMB3 | c.2193G>A (p.Gln731=) c.2001G>A (p.Gln667=) | |
| 1 | g.209623671T>A | CA344588526 | LAMB3 | c.2192A>T (p.Gln731Leu) c.2000A>T (p.Gln667Leu) | |
| 1 | g.209623671T>C | CA344588527 | LAMB3 | c.2192A>G (p.Gln731Arg) c.2000A>G (p.Gln667Arg) | |
| 1 | g.209623671T>G | CA344588528 | LAMB3 | c.2192A>C (p.Gln731Pro) c.2000A>C (p.Gln667Pro) | |
| 1 | g.209623672G>A | CA344588529 | LAMB3 | c.2191C>T (p.Gln731Ter) c.1999C>T (p.Gln667Ter) | dbSNP |
| 1 | g.209623672G>C | CA344588530 | LAMB3 | c.2191C>G (p.Gln731Glu) c.1999C>G (p.Gln667Glu) | |
| 1 | g.209623672G= | CA2484298328 | LAMB3 | c.2191C= (p.Gln731=) c.1999C= (p.Gln667=) | |
| 1 | g.209623672G>T | CA344588531 | LAMB3 | c.2191C>A (p.Gln731Lys) c.1999C>A (p.Gln667Lys) | |
| 1 | g.209623673C>A | CA344588533 | LAMB3 | c.2190G>T (p.Gln730His) c.1998G>T (p.Gln666His) | gnomAD v4 |
| 1 | g.209623673C>G | CA344588532 | LAMB3 | c.2190G>C (p.Gln730His) c.1998G>C (p.Gln666His) | |
| 1 | g.209623673C>T | CA423142415 | LAMB3 | c.2190G>A (p.Gln730=) c.1998G>A (p.Gln666=) | |
| 1 | g.209623674T>A | CA344588534 | LAMB3 | c.2189A>T (p.Gln730Leu) c.1997A>T (p.Gln666Leu) | dbSNP gnomAD v4 |
| 1 | g.209623674T>C | CA344588535 | LAMB3 | c.2189A>G (p.Gln730Arg) c.1997A>G (p.Gln666Arg) | |
| 1 | g.209623674T>G | CA344588536 | LAMB3 | c.2189A>C (p.Gln730Pro) c.1997A>C (p.Gln666Pro) | |
| 1 | g.209623674T= | CA2484298329 | LAMB3 | c.2189A= (p.Gln730=) c.1997A= (p.Gln666=) | |
| 1 | g.209623675G>A | CA344588537 | LAMB3 | c.2188C>T (p.Gln730Ter) c.1996C>T (p.Gln666Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623675G>C | CA344588538 | LAMB3 | c.2188C>G (p.Gln730Glu) c.1996C>G (p.Gln666Glu) | |
| 1 | g.209623675G= | CA2484298330 | LAMB3 | c.2188C= (p.Gln730=) c.1996C= (p.Gln666=) | |
| 1 | g.209623675G>T | CA344588539 | LAMB3 | c.2188C>A (p.Gln730Lys) c.1996C>A (p.Gln666Lys) | |
| 1 | g.209623676A= | CA2484298331 | LAMB3 | c.2187T= (p.Ala729=) c.1995T= (p.Ala665=) | |
| 1 | g.209623676A>C | CA423142431 | LAMB3 | c.2187T>G (p.Ala729=) c.1995T>G (p.Ala665=) | |
| 1 | g.209623676A>G | CA423142432 | LAMB3 | c.2187T>C (p.Ala729=) c.1995T>C (p.Ala665=) | ClinVar dbSNP |
| 1 | g.209623676A>T | CA423142430 | LAMB3 | c.2187T>A (p.Ala729=) c.1995T>A (p.Ala665=) | |
| 1 | g.209623677G>A | CA344588540 | LAMB3 | c.2186C>T (p.Ala729Val) c.1994C>T (p.Ala665Val) | gnomAD v4 |
| 1 | g.209623677G>C | CA344588542 | LAMB3 | c.2186C>G (p.Ala729Gly) c.1994C>G (p.Ala665Gly) | |
| 1 | g.209623677G>T | CA344588541 | LAMB3 | c.2186C>A (p.Ala729Asp) c.1994C>A (p.Ala665Asp) | |
| 1 | g.209623678C>A | CA344588543 | LAMB3 | c.2185G>T (p.Ala729Ser) c.1993G>T (p.Ala665Ser) | gnomAD v4 |
| 1 | g.209623678C= | CA2484298332 | LAMB3 | c.2185G= (p.Ala729=) c.1993G= (p.Ala665=) | |
| 1 | g.209623678C>G | CA344588544 | LAMB3 | c.2185G>C (p.Ala729Pro) c.1993G>C (p.Ala665Pro) | |
| 1 | g.209623678C>T | CA344588545 | LAMB3 | c.2185G>A (p.Ala729Thr) c.1993G>A (p.Ala665Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623679A= | CA2484298333 | LAMB3 | c.2184T= (p.Ala728=) c.1992T= (p.Ala664=) | |
| 1 | g.209623679A>C | CA423142448 | LAMB3 | c.2184T>G (p.Ala728=) c.1992T>G (p.Ala664=) | |
| 1 | g.209623679A>G | CA423142445 | LAMB3 | c.2184T>C (p.Ala728=) c.1992T>C (p.Ala664=) | dbSNP |
| 1 | g.209623679A>T | CA423142441 | LAMB3 | c.2184T>A (p.Ala728=) c.1992T>A (p.Ala664=) | gnomAD v4 |
| 1 | g.209623680G>A | CA344588546 | LAMB3 | c.2183C>T (p.Ala728Val) c.1991C>T (p.Ala664Val) | |
| 1 | g.209623680G>C | CA344588547 | LAMB3 | c.2183C>G (p.Ala728Gly) c.1991C>G (p.Ala664Gly) | |
| 1 | g.209623680G>T | CA344588548 | LAMB3 | c.2183C>A (p.Ala728Asp) c.1991C>A (p.Ala664Asp) | gnomAD v4 |
| 1 | g.209623680_209623681del | CA913072628 | LAMB3 | c.2182_2183del (p.Ala728CysfsTer?) c.1990_1991del (p.Ala664CysfsTer?) | |
| 1 | g.209623680_209623681delinsGC | CA2484298334 | LAMB3 | c.2182_2183delinsGC (p.Ala728=) c.1990_1991delinsGC (p.Ala664=) | |
| 1 | g.209623681C>A | CA344588549 | LAMB3 | c.2182G>T (p.Ala728Ser) c.1990G>T (p.Ala664Ser) | |
| 1 | g.209623681C>G | CA344588550 | LAMB3 | c.2182G>C (p.Ala728Pro) c.1990G>C (p.Ala664Pro) | gnomAD v4 |
| 1 | g.209623681C>T | CA344588551 | LAMB3 | c.2182G>A (p.Ala728Thr) c.1990G>A (p.Ala664Thr) | |
| 1 | g.209623682del | CA658822563 | LAMB3 | c.2182del (p.Ala728LeufsTer?) c.1990del (p.Ala664LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623682C>A | CA344588552 | LAMB3 | c.2181G>T (p.Gln727His) c.1989G>T (p.Gln663His) | |
| 1 | g.209623682C>G | CA344588553 | LAMB3 | c.2181G>C (p.Gln727His) c.1989G>C (p.Gln663His) | gnomAD v4 |
| 1 | g.209623682C>T | CA423142455 | LAMB3 | c.2181G>A (p.Gln727=) c.1989G>A (p.Gln663=) | |
| 1 | g.209623683T>A | CA344588556 | LAMB3 | c.2180A>T (p.Gln727Leu) c.1988A>T (p.Gln663Leu) | |
| 1 | g.209623683T>C | CA344588555 | LAMB3 | c.2180A>G (p.Gln727Arg) c.1988A>G (p.Gln663Arg) | gnomAD v4 |
| 1 | g.209623683T>G | CA344588554 | LAMB3 | c.2180A>C (p.Gln727Pro) c.1988A>C (p.Gln663Pro) | |
| 1 | g.209623684G>A | CA344588559 | LAMB3 | c.2179C>T (p.Gln727Ter) c.1987C>T (p.Gln663Ter) | |
| 1 | g.209623684G>C | CA344588557 | LAMB3 | c.2179C>G (p.Gln727Glu) c.1987C>G (p.Gln663Glu) | |
| 1 | g.209623684G>T | CA344588558 | LAMB3 | c.2179C>A (p.Gln727Lys) c.1987C>A (p.Gln663Lys) | |
| 1 | g.209623685G>A | CA423142463 | LAMB3 | c.2178C>T (p.Ala726=) c.1986C>T (p.Ala662=) | |
| 1 | g.209623685G>C | CA423142464 | LAMB3 | c.2178C>G (p.Ala726=) c.1986C>G (p.Ala662=) | |
| 1 | g.209623685G>T | CA423142465 | LAMB3 | c.2178C>A (p.Ala726=) c.1986C>A (p.Ala662=) | |
| 1 | g.209623686G>A | CA344588560 | LAMB3 | c.2177C>T (p.Ala726Val) c.1985C>T (p.Ala662Val) | |
| 1 | g.209623686G>C | CA344588561 | LAMB3 | c.2177C>G (p.Ala726Gly) c.1985C>G (p.Ala662Gly) | |
| 1 | g.209623686G>T | CA344588562 | LAMB3 | c.2177C>A (p.Ala726Asp) c.1985C>A (p.Ala662Asp) | |
| 1 | g.209623687C>A | CA1375337 | LAMB3 | c.2176G>T (p.Ala726Ser) c.1984G>T (p.Ala662Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623687C= | CA1144001819 | LAMB3 | c.2176G= (p.Ala726=) c.1984G= (p.Ala662=) | |
| 1 | g.209623687C>G | CA344588563 | LAMB3 | c.2176G>C (p.Ala726Pro) c.1984G>C (p.Ala662Pro) | |
| 1 | g.209623687C>T | CA344588564 | LAMB3 | c.2176G>A (p.Ala726Thr) c.1984G>A (p.Ala662Thr) | |
| 1 | g.209623688T>A | CA423142468 | LAMB3 | c.2175A>T (p.Ser725=) c.1983A>T (p.Ser661=) | |
| 1 | g.209623688T>C | CA423142470 | LAMB3 | c.2175A>G (p.Ser725=) c.1983A>G (p.Ser661=) | |
| 1 | g.209623688T>G | CA423142472 | LAMB3 | c.2175A>C (p.Ser725=) c.1983A>C (p.Ser661=) | |
| 1 | g.209623689G>A | CA344588565 | LAMB3 | c.2174C>T (p.Ser725Leu) c.1982C>T (p.Ser661Leu) | |
| 1 | g.209623689G>C | CA344588566 | LAMB3 | c.2174C>G (p.Ser725Ter) c.1982C>G (p.Ser661Ter) | |
| 1 | g.209623689G>T | CA344588567 | LAMB3 | c.2174C>A (p.Ser725Ter) c.1982C>A (p.Ser661Ter) | |
| 1 | g.209623690A= | CA2484298335 | LAMB3 | c.2173T= (p.Ser725=) c.1981T= (p.Ser661=) | |
| 1 | g.209623690A>C | CA344588568 | LAMB3 | c.2173T>G (p.Ser725Ala) c.1981T>G (p.Ser661Ala) | |
| 1 | g.209623690A>G | CA344588569 | LAMB3 | c.2173T>C (p.Ser725Pro) c.1981T>C (p.Ser661Pro) | dbSNP |
| 1 | g.209623690A>T | CA344588570 | LAMB3 | c.2173T>A (p.Ser725Thr) c.1981T>A (p.Ser661Thr) | |
| 1 | g.209623691C>A | CA344588572 | LAMB3 | c.2172G>T (p.Gln724His) c.1980G>T (p.Gln660His) | |
| 1 | g.209623691C>G | CA344588571 | LAMB3 | c.2172G>C (p.Gln724His) c.1980G>C (p.Gln660His) | |
| 1 | g.209623691C>T | CA423142476 | LAMB3 | c.2172G>A (p.Gln724=) c.1980G>A (p.Gln660=) | |
| 1 | g.209623692T>A | CA344588573 | LAMB3 | c.2171A>T (p.Gln724Leu) c.1979A>T (p.Gln660Leu) | |
| 1 | g.209623692T>C | CA36752712 | LAMB3 | c.2171A>G (p.Gln724Arg) c.1979A>G (p.Gln660Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623692T>G | CA344588574 | LAMB3 | c.2171A>C (p.Gln724Pro) c.1979A>C (p.Gln660Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623692T= | CA2484298336 | LAMB3 | c.2171A= (p.Gln724=) c.1979A= (p.Gln660=) | |
| 1 | g.209623693G>A | CA16040692 | LAMB3 | c.2170C>T (p.Gln724Ter) c.1978C>T (p.Gln660Ter) | ClinVar dbSNP |
| 1 | g.209623693G>C | CA344588575 | LAMB3 | c.2170C>G (p.Gln724Glu) c.1978C>G (p.Gln660Glu) | |
| 1 | g.209623693G= | CA2484298337 | LAMB3 | c.2170C= (p.Gln724=) c.1978C= (p.Gln660=) | |
| 1 | g.209623693G>T | CA344588576 | LAMB3 | c.2170C>A (p.Gln724Lys) c.1978C>A (p.Gln660Lys) | |
| 1 | g.209623694C>A | CA344588578 | LAMB3 | c.2169G>T (p.Glu723Asp) c.1977G>T (p.Glu659Asp) | gnomAD v4 |
| 1 | g.209623694C>G | CA344588577 | LAMB3 | c.2169G>C (p.Glu723Asp) c.1977G>C (p.Glu659Asp) | |
| 1 | g.209623694C>T | CA423142480 | LAMB3 | c.2169G>A (p.Glu723=) c.1977G>A (p.Glu659=) | |
| 1 | g.209623695del | CA2586964547 | LAMB3 | c.2168del (p.Glu723GlyfsTer?) c.1976del (p.Glu659GlyfsTer?) | |
| 1 | g.209623695T>A | CA344588579 | LAMB3 | c.2168A>T (p.Glu723Val) c.1976A>T (p.Glu659Val) | |
| 1 | g.209623695T>C | CA344588580 | LAMB3 | c.2168A>G (p.Glu723Gly) c.1976A>G (p.Glu659Gly) | |
| 1 | g.209623695T>G | CA344588581 | LAMB3 | c.2168A>C (p.Glu723Ala) c.1976A>C (p.Glu659Ala) | |
| 1 | g.209623696C>A | CA344588582 | LAMB3 | c.2167G>T (p.Glu723Ter) c.1975G>T (p.Glu659Ter) | |
| 1 | g.209623696C= | CA2484298338 | LAMB3 | c.2167G= (p.Glu723=) c.1975G= (p.Glu659=) | |
| 1 | g.209623696C>G | CA344588583 | LAMB3 | c.2167G>C (p.Glu723Gln) c.1975G>C (p.Glu659Gln) | |
| 1 | g.209623696C>T | CA36752718 | LAMB3 | c.2167G>A (p.Glu723Lys) c.1975G>A (p.Glu659Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623697G>A | CA1375338 | LAMB3 | c.2166C>T (p.Tyr722=) c.1974C>T (p.Tyr658=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623697G>C | CA1375339 | LAMB3 | c.2166C>G (p.Tyr722Ter) c.1974C>G (p.Tyr658Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623697G= | CA1146168471 | LAMB3 | c.2166C= (p.Tyr722=) c.1974C= (p.Tyr658=) | |
| 1 | g.209623697G>T | CA344588584 | LAMB3 | c.2166C>A (p.Tyr722Ter) c.1974C>A (p.Tyr658Ter) | ClinVar |
| 1 | g.209623698T>A | CA344588585 | LAMB3 | c.2165A>T (p.Tyr722Phe) c.1973A>T (p.Tyr658Phe) | |
| 1 | g.209623698T>C | CA344588586 | LAMB3 | c.2165A>G (p.Tyr722Cys) c.1973A>G (p.Tyr658Cys) | |
| 1 | g.209623698T>G | CA344588587 | LAMB3 | c.2165A>C (p.Tyr722Ser) c.1973A>C (p.Tyr658Ser) | |
| 1 | g.209623699A= | CA2484298339 | LAMB3 | c.2164T= (p.Tyr722=) c.1972T= (p.Tyr658=) | |
| 1 | g.209623699A>C | CA344588588 | LAMB3 | c.2164T>G (p.Tyr722Asp) c.1972T>G (p.Tyr658Asp) | |
| 1 | g.209623699A>G | CA344588589 | LAMB3 | c.2164T>C (p.Tyr722His) c.1972T>C (p.Tyr658His) | gnomAD v4 |
| 1 | g.209623699A>T | CA1375340 | LAMB3 | c.2164T>A (p.Tyr722Asn) c.1972T>A (p.Tyr658Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |