Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339455T>A | CA483438577 | BRCA2 | c.5100T>A (p.Gly1700=) c.4731T>A (p.Gly1577=) n.5100T>A | ClinVar dbSNP |
13 | g.32339455T>C | CA247509001 | BRCA2 | c.5100T>C (p.Gly1700=) c.4731T>C (p.Gly1577=) n.5100T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339455T>G | CA483438578 | BRCA2 | c.5100T>G (p.Gly1700=) c.4731T>G (p.Gly1577=) n.5100T>G | gnomAD v4 |
13 | g.32339455T= | CA2082818853 | BRCA2 | c.5100T= (p.Gly1700=) c.4731T= (p.Gly1577=) n.5100T= | |
13 | g.32339455dup | CA919242691 | BRCA2 | c.5100dup (p.Gln1701SerfsTer17) c.4731dup (p.Gln1578SerfsTer17) n.5100dup | dbSNP |
13 | g.32339456C>A | CA387784121 | BRCA2 | c.5101C>A (p.Gln1701Lys) c.4732C>A (p.Gln1578Lys) n.5101C>A | dbSNP gnomAD v4 |
13 | g.32339456C= | CA2082818859 | BRCA2 | c.5101C= (p.Gln1701=) c.4732C= (p.Gln1578=) n.5101C= | |
13 | g.32339456C>G | CA387784122 | BRCA2 | c.5101C>G (p.Gln1701Glu) c.4732C>G (p.Gln1578Glu) n.5101C>G | dbSNP |
13 | g.32339456C>T | CA021256 | BRCA2 | c.5101C>T (p.Gln1701Ter) c.4732C>T (p.Gln1578Ter) n.5101C>T | ClinVar dbSNP |
13 | g.32339458_32339461del | CA2580087326 | BRCA2 | c.5103_5106del (p.Pro1702LysfsTer3) c.4734_4737del (p.Pro1579LysfsTer3) n.5103_5106del | ClinVar |
13 | g.32339457A= | CA2082818873 | BRCA2 | c.5102A= (p.Gln1701=) c.4733A= (p.Gln1578=) n.5102A= | |
13 | g.32339457A>C | CA6940846 | BRCA2 | c.5102A>C (p.Gln1701Pro) c.4733A>C (p.Gln1578Pro) n.5102A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339457A>G | CA387784123 | BRCA2 | c.5102A>G (p.Gln1701Arg) c.4733A>G (p.Gln1578Arg) n.5102A>G | dbSNP gnomAD v4 |
13 | g.32339457A>T | CA387784124 | BRCA2 | c.5102A>T (p.Gln1701Leu) c.4733A>T (p.Gln1578Leu) n.5102A>T | dbSNP |
13 | g.32339458A= | CA2082818887 | BRCA2 | c.5103A= (p.Gln1701=) c.4734A= (p.Gln1578=) n.5103A= | |
13 | g.32339458A>C | CA10583111 | BRCA2 | c.5103A>C (p.Gln1701His) c.4734A>C (p.Gln1578His) n.5103A>C | ClinVar dbSNP |
13 | g.32339458A>G | CA483438579 | BRCA2 | c.5103A>G (p.Gln1701=) c.4734A>G (p.Gln1578=) n.5103A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339458A>T | CA387784125 | BRCA2 | c.5103A>T (p.Gln1701His) c.4734A>T (p.Gln1578His) n.5103A>T | ClinVar dbSNP |
13 | g.32339459C>A | CA387784126 | BRCA2 | c.5104C>A (p.Pro1702Thr) c.4735C>A (p.Pro1579Thr) n.5104C>A | dbSNP |
13 | g.32339459C= | CA2082818910 | BRCA2 | c.5104C= (p.Pro1702=) c.4735C= (p.Pro1579=) n.5104C= | |
13 | g.32339459C>G | CA387784127 | BRCA2 | c.5104C>G (p.Pro1702Ala) c.4735C>G (p.Pro1579Ala) n.5104C>G | dbSNP |
13 | g.32339459C>T | CA021263 | BRCA2 | c.5104C>T (p.Pro1702Ser) c.4735C>T (p.Pro1579Ser) n.5104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339459_32339460del | CA1139770808 | BRCA2 | c.5104_5105del (p.Pro1702ArgfsTer15) c.4735_4736del (p.Pro1579ArgfsTer15) n.5104_5105del | |
13 | g.32339460C>A | CA387784128 | BRCA2 | c.5105C>A (p.Pro1702Gln) c.4736C>A (p.Pro1579Gln) n.5105C>A | dbSNP |
13 | g.32339460C= | CA2082818923 | BRCA2 | c.5105C= (p.Pro1702=) c.4736C= (p.Pro1579=) n.5105C= | |
13 | g.32339460C>G | CA387784129 | BRCA2 | c.5105C>G (p.Pro1702Arg) c.4736C>G (p.Pro1579Arg) n.5105C>G | dbSNP |
13 | g.32339460C>T | CA387784130 | BRCA2 | c.5105C>T (p.Pro1702Leu) c.4736C>T (p.Pro1579Leu) n.5105C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32339460_32339464delinsCAGAA | CA2082818919 | BRCA2 | c.5105_5109delinsCAGAA (p.Pro1702=) c.4736_4740delinsCAGAA (p.Pro1579=) n.5105_5109delinsCAGAA | |
13 | g.32339461A= | CA2082818942 | BRCA2 | c.5106A= (p.Pro1702=) c.4737A= (p.Pro1579=) n.5106A= | |
13 | g.32339461A>C | CA483438580 | BRCA2 | c.5106A>C (p.Pro1702=) c.4737A>C (p.Pro1579=) n.5106A>C | |
13 | g.32339461A>G | CA6940847 | BRCA2 | c.5106A>G (p.Pro1702=) c.4737A>G (p.Pro1579=) n.5106A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339461A>T | CA483438581 | BRCA2 | c.5106A>T (p.Pro1702=) c.4737A>T (p.Pro1579=) n.5106A>T | |
13 | g.32339465_32339468del | CA10584448 | BRCA2 | c.5110_5113del (p.Arg1704Ter) c.4741_4744del (p.Arg1581Ter) n.5110_5113del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339462G>A | CA387784131 | BRCA2 | c.5107G>A (p.Glu1703Lys) c.4738G>A (p.Glu1580Lys) n.5107G>A | dbSNP |
13 | g.32339462G>C | CA021267 | BRCA2 | c.5107G>C (p.Glu1703Gln) c.4738G>C (p.Glu1580Gln) n.5107G>C | ClinVar dbSNP |
13 | g.32339462G= | CA2082818963 | BRCA2 | c.5107G= (p.Glu1703=) c.4738G= (p.Glu1580=) n.5107G= | |
13 | g.32339462G>T | CA021274 | BRCA2 | c.5107G>T (p.Glu1703Ter) c.4738G>T (p.Glu1580Ter) n.5107G>T | ClinVar dbSNP |
13 | g.32339462_32339463delinsGA | CA2082818959 | BRCA2 | c.5107_5108delinsGA (p.Glu1703=) c.4738_4739delinsGA (p.Glu1580=) n.5107_5108delinsGA | |
13 | g.32339463A= | CA2082818975 | BRCA2 | c.5108A= (p.Glu1703=) c.4739A= (p.Glu1580=) n.5108A= | |
13 | g.32339463A>C | CA6940848 | BRCA2 | c.5108A>C (p.Glu1703Ala) c.4739A>C (p.Glu1580Ala) n.5108A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339463A>G | CA387784133 | BRCA2 | c.5108A>G (p.Glu1703Gly) c.4739A>G (p.Glu1580Gly) n.5108A>G | ClinVar dbSNP |
13 | g.32339463A>T | CA387784132 | BRCA2 | c.5108A>T (p.Glu1703Val) c.4739A>T (p.Glu1580Val) n.5108A>T | ClinVar dbSNP |
13 | g.32339465del | CA10589285 | BRCA2 | c.5110del (p.Arg1704GlufsTer2) c.4741del (p.Arg1581GlufsTer2) n.5110del | ClinVar dbSNP |
13 | g.32339464A>C | CA387784135 | BRCA2 | c.5109A>C (p.Glu1703Asp) c.4740A>C (p.Glu1580Asp) n.5109A>C | |
13 | g.32339464A>G | CA483438582 | BRCA2 | c.5109A>G (p.Glu1703=) c.4740A>G (p.Glu1580=) n.5109A>G | dbSNP |
13 | g.32339464A>T | CA387784134 | BRCA2 | c.5109A>T (p.Glu1703Asp) c.4740A>T (p.Glu1580Asp) n.5109A>T | dbSNP |
13 | g.32339465A= | CA2082818991 | BRCA2 | c.5110A= (p.Arg1704=) c.4741A= (p.Arg1581=) n.5110A= | |
13 | g.32339465A>C | CA483438583 | BRCA2 | c.5110A>C (p.Arg1704=) c.4741A>C (p.Arg1581=) n.5110A>C | |
13 | g.32339465A>G | CA387784136 | BRCA2 | c.5110A>G (p.Arg1704Gly) c.4741A>G (p.Arg1581Gly) n.5110A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339465A>T | CA16619718 | BRCA2 | c.5110A>T (p.Arg1704Ter) c.4741A>T (p.Arg1581Ter) n.5110A>T | ClinVar dbSNP |