Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339200_32339201del | CA020899 | BRCA2 | c.4845_4846del (p.Leu1616LysfsTer2) c.4476_4477del (p.Leu1493LysfsTer2) n.4845_4846del | ClinVar dbSNP |
13 | g.32339200C>A | CA483438403 | BRCA2 | c.4845C>A (p.Leu1615=) c.4476C>A (p.Leu1492=) n.4845C>A | dbSNP |
13 | g.32339200C= | CA2082816338 | BRCA2 | c.4845C= (p.Leu1615=) c.4476C= (p.Leu1492=) n.4845C= | |
13 | g.32339200C>G | CA483438404 | BRCA2 | c.4845C>G (p.Leu1615=) c.4476C>G (p.Leu1492=) n.4845C>G | ClinVar dbSNP |
13 | g.32339200C>T | CA10579636 | BRCA2 | c.4845C>T (p.Leu1615=) c.4476C>T (p.Leu1492=) n.4845C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339201T>A | CA387783370 | BRCA2 | c.4846T>A (p.Leu1616Ile) c.4477T>A (p.Leu1493Ile) n.4846T>A | dbSNP |
13 | g.32339201T>C | CA483438405 | BRCA2 | c.4846T>C (p.Leu1616=) c.4477T>C (p.Leu1493=) n.4846T>C | dbSNP |
13 | g.32339201T>G | CA387783371 | BRCA2 | c.4846T>G (p.Leu1616Val) c.4477T>G (p.Leu1493Val) n.4846T>G | dbSNP |
13 | g.32339201_32339205delinsTTAAG | CA2082816342 | BRCA2 | c.4846_4850delinsTTAAG (p.Leu1616=) c.4477_4481delinsTTAAG (p.Leu1493=) n.4846_4850delinsTTAAG | |
13 | g.32339202T>A | CA387783372 | BRCA2 | c.4847T>A (p.Leu1616Ter) c.4478T>A (p.Leu1493Ter) n.4847T>A | dbSNP |
13 | g.32339202T>C | CA387783374 | BRCA2 | c.4847T>C (p.Leu1616Ser) c.4478T>C (p.Leu1493Ser) n.4847T>C | ClinVar dbSNP |
13 | g.32339202T>G | CA020903 | BRCA2 | c.4847T>G (p.Leu1616Ter) c.4478T>G (p.Leu1493Ter) n.4847T>G | ClinVar dbSNP |
13 | g.32339202T= | CA2082816350 | BRCA2 | c.4847T= (p.Leu1616=) c.4478T= (p.Leu1493=) n.4847T= | |
13 | g.32339202_32339204delinsTAA | CA2082816349 | BRCA2 | c.4847_4849delinsTAA (p.Leu1616=) c.4478_4480delinsTAA (p.Leu1493=) n.4847_4849delinsTAA | |
13 | g.32339203_32339206del | CA645372964 | BRCA2 | c.4848_4851del (p.Ser1617IlefsTer18) c.4479_4482del (p.Ser1494IlefsTer18) n.4848_4851del | ClinVar dbSNP |
13 | g.32339203A= | CA2082816360 | BRCA2 | c.4848A= (p.Leu1616=) c.4479A= (p.Leu1493=) n.4848A= | |
13 | g.32339203A>C | CA247508534 | BRCA2 | c.4848A>C (p.Leu1616Phe) c.4479A>C (p.Leu1493Phe) n.4848A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339203A>G | CA10579637 | BRCA2 | c.4848A>G (p.Leu1616=) c.4479A>G (p.Leu1493=) n.4848A>G | ClinVar dbSNP |
13 | g.32339203A>T | CA387783378 | BRCA2 | c.4848A>T (p.Leu1616Phe) c.4479A>T (p.Leu1493Phe) n.4848A>T | dbSNP |
13 | g.32339203_32339204del | CA020906 | BRCA2 | c.4848_4849del (p.Ser1617Ter) c.4479_4480del (p.Ser1494Ter) n.4848_4849del | ClinVar dbSNP |
13 | g.32339204A= | CA2082816367 | BRCA2 | c.4849A= (p.Ser1617=) c.4480A= (p.Ser1494=) n.4849A= | |
13 | g.32339204A>C | CA020909 | BRCA2 | c.4849A>C (p.Ser1617Arg) c.4480A>C (p.Ser1494Arg) n.4849A>C | ClinVar dbSNP |
13 | g.32339204A>G | CA387783381 | BRCA2 | c.4849A>G (p.Ser1617Gly) c.4480A>G (p.Ser1494Gly) n.4849A>G | ClinVar dbSNP |
13 | g.32339204A>T | CA387783382 | BRCA2 | c.4849A>T (p.Ser1617Cys) c.4480A>T (p.Ser1494Cys) n.4849A>T | dbSNP |
13 | g.32339205G>A | CA020915 | BRCA2 | c.4850G>A (p.Ser1617Asn) c.4481G>A (p.Ser1494Asn) n.4850G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339205G>C | CA387783384 | BRCA2 | c.4850G>C (p.Ser1617Thr) c.4481G>C (p.Ser1494Thr) n.4850G>C | |
13 | g.32339205G= | CA2082816377 | BRCA2 | c.4850G= (p.Ser1617=) c.4481G= (p.Ser1494=) n.4850G= | |
13 | g.32339205G>T | CA387783386 | BRCA2 | c.4850G>T (p.Ser1617Ile) c.4481G>T (p.Ser1494Ile) n.4850G>T | ClinVar dbSNP |
13 | g.32339206T>A | CA387783389 | BRCA2 | c.4851T>A (p.Ser1617Arg) c.4482T>A (p.Ser1494Arg) n.4851T>A | dbSNP |
13 | g.32339206T>C | CA483438410 | BRCA2 | c.4851T>C (p.Ser1617=) c.4482T>C (p.Ser1494=) n.4851T>C | |
13 | g.32339206T>G | CA387783388 | BRCA2 | c.4851T>G (p.Ser1617Arg) c.4482T>G (p.Ser1494Arg) n.4851T>G | |
13 | g.32339207G>A | CA387783390 | BRCA2 | c.4852G>A (p.Asp1618Asn) c.4483G>A (p.Asp1495Asn) n.4852G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339207G>C | CA387783393 | BRCA2 | c.4852G>C (p.Asp1618His) c.4483G>C (p.Asp1495His) n.4852G>C | dbSNP |
13 | g.32339207G= | CA2082816386 | BRCA2 | c.4852G= (p.Asp1618=) c.4483G= (p.Asp1495=) n.4852G= | |
13 | g.32339207G>T | CA387783392 | BRCA2 | c.4852G>T (p.Asp1618Tyr) c.4483G>T (p.Asp1495Tyr) n.4852G>T | dbSNP |
13 | g.32339207_32339208delinsGA | CA2082816385 | BRCA2 | c.4852_4853delinsGA (p.Asp1618=) c.4483_4484delinsGA (p.Asp1495=) n.4852_4853delinsGA | |
13 | g.32339208A= | CA2082816397 | BRCA2 | c.4853A= (p.Asp1618=) c.4484A= (p.Asp1495=) n.4853A= | |
13 | g.32339208A>C | CA387783395 | BRCA2 | c.4853A>C (p.Asp1618Ala) c.4484A>C (p.Asp1495Ala) n.4853A>C | |
13 | g.32339208A>G | CA387783397 | BRCA2 | c.4853A>G (p.Asp1618Gly) c.4484A>G (p.Asp1495Gly) n.4853A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339208A>T | CA387783398 | BRCA2 | c.4853A>T (p.Asp1618Val) c.4484A>T (p.Asp1495Val) n.4853A>T | dbSNP |
13 | g.32339208delinsGCTCT | CA10589275 | BRCA2 | c.4853delinsGCTCT (p.Asp1618GlyfsTer3) c.4484delinsGCTCT (p.Asp1495GlyfsTer3) n.4853delinsGCTCT | ClinVar dbSNP |
13 | g.32339209T>A | CA020918 | BRCA2 | c.4854T>A (p.Asp1618Glu) c.4485T>A (p.Asp1495Glu) n.4854T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339209T>C | CA483438414 | BRCA2 | c.4854T>C (p.Asp1618=) c.4485T>C (p.Asp1495=) n.4854T>C | |
13 | g.32339209T>G | CA387783401 | BRCA2 | c.4854T>G (p.Asp1618Glu) c.4485T>G (p.Asp1495Glu) n.4854T>G | |
13 | g.32339209T= | CA2082816404 | BRCA2 | c.4854T= (p.Asp1618=) c.4485T= (p.Asp1495=) n.4854T= | |
13 | g.32339210A>C | CA387783402 | BRCA2 | c.4855A>C (p.Asn1619His) c.4486A>C (p.Asn1496His) n.4855A>C | |
13 | g.32339210A>G | CA387783404 | BRCA2 | c.4855A>G (p.Asn1619Asp) c.4486A>G (p.Asn1496Asp) n.4855A>G | COSMIC COSMIC |
13 | g.32339210A>T | CA387783406 | BRCA2 | c.4855A>T (p.Asn1619Tyr) c.4486A>T (p.Asn1496Tyr) n.4855A>T | dbSNP |
13 | g.32339211del | CA2580087314 | BRCA2 | c.4856del (p.Asn1619IlefsTer17) c.4487del (p.Asn1496IlefsTer17) n.4856del | ClinVar |
13 | g.32339210_32339214delinsAATTT | CA2082816410 | BRCA2 | c.4855_4859delinsAATTT (p.Asn1619=) c.4486_4490delinsAATTT (p.Asn1496=) n.4855_4859delinsAATTT |