Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49130727A= | CA1363342654 | LAMB2 | c.1036+13T= (n.1036+13T=) | |
3 | g.49130727A>C | CA2756174316 | LAMB2 | c.1036+13T>G (n.1036+13T>G) | |
3 | g.49130727A>G | CA543048888 | LAMB2 | c.1036+13T>C (n.1036+13T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130728G= | CA1363342655 | LAMB2 | c.1036+12C= (n.1036+12C=) | |
3 | g.49130728G>T | CA543048889 | LAMB2 | c.1036+12C>A (n.1036+12C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130729A= | CA1363342656 | LAMB2 | c.1036+11T= (n.1036+11T=) | |
3 | g.49130729A>G | CA2394719 | LAMB2 | c.1036+11T>C (n.1036+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49130731C= | CA1363342657 | LAMB2 | c.1036+9G= (n.1036+9G=) | |
3 | g.49130731C>G | CA2394720 | LAMB2 | c.1036+9G>C (n.1036+9G>C) | dbSNP ExAC gnomAD v2 |
3 | g.49130738_49130741del | CA2586972430 | LAMB2 | c.1036+6_1036+9del | |
3 | g.49130735C>A | CA2394721 | LAMB2 | c.1036+5G>T (n.1036+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49130735C= | CA1363342658 | LAMB2 | c.1036+5G= (n.1036+5G=) | |
3 | g.49130737C>A | CA2665699155 | LAMB2 | c.1036+3G>T (n.1036+3G>T) | gnomAD v4 |
3 | g.49130737C>G | CA2665699156 | LAMB2 | c.1036+3G>C (n.1036+3G>C) | gnomAD v4 |
3 | g.49130737C>T | CA2665699157 | LAMB2 | c.1036+3G>A (n.1036+3G>A) | gnomAD v4 |
3 | g.49130738A>C | CA352744341 | LAMB2 | c.1036+2T>G (n.1036+2T>G) | |
3 | g.49130738A>G | CA352744345 | LAMB2 | c.1036+2T>C (n.1036+2T>C) | gnomAD v4 |
3 | g.49130738A>T | CA352744348 | LAMB2 | c.1036+2T>A (n.1036+2T>A) | |
3 | g.49130739C>A | CA352744351 | LAMB2 | c.1036+1G>T (n.1036+1G>T) | |
3 | g.49130739C>G | CA352744353 | LAMB2 | c.1036+1G>C (n.1036+1G>C) | |
3 | g.49130739C>T | CA352744355 | LAMB2 | c.1036+1G>A (n.1036+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49130740T>A | CA352744357 | LAMB2 | c.1036A>T (p.Lys346Ter) | |
3 | g.49130740T>C | CA352744363 | LAMB2 | c.1036A>G (p.Lys346Glu) | |
3 | g.49130740T>G | CA352744360 | LAMB2 | c.1036A>C (p.Lys346Gln) | |
3 | g.49130740_49130741delinsTC | CA1363342659 | LAMB2 | c.1035_1036delinsGA (p.Arg345=) | |
3 | g.49130741C>A | CA352744380 | LAMB2 | c.1035G>T (p.Arg345Ser) | |
3 | g.49130741C>G | CA352744383 | LAMB2 | c.1035G>C (p.Arg345Ser) | gnomAD v4 |
3 | g.49130741C>T | CA433636212 | LAMB2 | c.1035G>A (p.Arg345=) | dbSNP gnomAD v4 |
3 | g.49130742del | CA74487868 | LAMB2 | c.1035del (p.Lys346SerfsTer24) | dbSNP |
3 | g.49130742C>A | CA352744385 | LAMB2 | c.1034G>T (p.Arg345Met) | |
3 | g.49130742C>G | CA352744386 | LAMB2 | c.1034G>C (p.Arg345Thr) | |
3 | g.49130742C>T | CA352744389 | LAMB2 | c.1034G>A (p.Arg345Lys) | |
3 | g.49130743T>A | CA352744392 | LAMB2 | c.1033A>T (p.Arg345Trp) | |
3 | g.49130743T>C | CA352744396 | LAMB2 | c.1033A>G (p.Arg345Gly) | |
3 | g.49130743T>G | CA433636213 | LAMB2 | c.1033A>C (p.Arg345=) | |
3 | g.49130744A>C | CA352744414 | LAMB2 | c.1032T>G (p.Cys344Trp) | |
3 | g.49130744A>G | CA433636214 | LAMB2 | c.1032T>C (p.Cys344=) | ClinVar |
3 | g.49130744A>T | CA352744418 | LAMB2 | c.1032T>A (p.Cys344Ter) | |
3 | g.49130745C>A | CA352744425 | LAMB2 | c.1031G>T (p.Cys344Phe) | |
3 | g.49130745C>G | CA352744429 | LAMB2 | c.1031G>C (p.Cys344Ser) | |
3 | g.49130745C>T | CA352744422 | LAMB2 | c.1031G>A (p.Cys344Tyr) | gnomAD v4 |
3 | g.49130746A>C | CA352744438 | LAMB2 | c.1030T>G (p.Cys344Gly) | |
3 | g.49130746A>G | CA352744432 | LAMB2 | c.1030T>C (p.Cys344Arg) | |
3 | g.49130746A>T | CA352744435 | LAMB2 | c.1030T>A (p.Cys344Ser) | |
3 | g.49130747G>A | CA74487897 | LAMB2 | c.1029C>T (p.Ala343=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49130747G>C | CA433636215 | LAMB2 | c.1029C>G (p.Ala343=) | gnomAD v4 |
3 | g.49130747G= | CA1363342660 | LAMB2 | c.1029C= (p.Ala343=) | |
3 | g.49130747G>T | CA433636216 | LAMB2 | c.1029C>A (p.Ala343=) | |
3 | g.49130748G>A | CA2394722 | LAMB2 | c.1028C>T (p.Ala343Val) | dbSNP ExAC |
3 | g.49130748G>C | CA352744458 | LAMB2 | c.1028C>G (p.Ala343Gly) | gnomAD v4 |