Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7584102T>A | CA448716445 | DSP | c.5511T>A (p.Ile1837=) c.6840T>A (p.Ile2280=) c.5043T>A (p.Ile1681=) | |
6 | g.7584102T>C | CA448716446 | DSP | c.5511T>C (p.Ile1837=) c.6840T>C (p.Ile2280=) c.5043T>C (p.Ile1681=) | gnomAD v4 |
6 | g.7584102T>G | CA362691678 | DSP | c.5511T>G (p.Ile1837Met) c.6840T>G (p.Ile2280Met) c.5043T>G (p.Ile1681Met) | gnomAD v4 |
6 | g.7584103G>A | CA362691679 | DSP | c.5512G>A (p.Gly1838Ser) c.6841G>A (p.Gly2281Ser) c.5044G>A (p.Gly1682Ser) | |
6 | g.7584103G>C | CA362691680 | DSP | c.5512G>C (p.Gly1838Arg) c.6841G>C (p.Gly2281Arg) c.5044G>C (p.Gly1682Arg) | |
6 | g.7584103G>T | CA362691681 | DSP | c.5512G>T (p.Gly1838Cys) c.6841G>T (p.Gly2281Cys) c.5044G>T (p.Gly1682Cys) | |
6 | g.7584104G>A | CA362691682 | DSP | c.5513G>A (p.Gly1838Asp) c.6842G>A (p.Gly2281Asp) c.5045G>A (p.Gly1682Asp) | |
6 | g.7584104G>C | CA362691683 | DSP | c.5513G>C (p.Gly1838Ala) c.6842G>C (p.Gly2281Ala) c.5045G>C (p.Gly1682Ala) | |
6 | g.7584104G>T | CA362691684 | DSP | c.5513G>T (p.Gly1838Val) c.6842G>T (p.Gly2281Val) c.5045G>T (p.Gly1682Val) | gnomAD v4 |
6 | g.7584105C>A | CA448716455 | DSP | c.5514C>A (p.Gly1838=) c.6843C>A (p.Gly2281=) c.5046C>A (p.Gly1682=) | |
6 | g.7584105C= | CA1608610099 | DSP | c.5514C= (p.Gly1838=) c.6843C= (p.Gly2281=) c.5046C= (p.Gly1682=) | |
6 | g.7584105C>G | CA448716456 | DSP | c.5514C>G (p.Gly1838=) c.6843C>G (p.Gly2281=) c.5046C>G (p.Gly1682=) | |
6 | g.7584105C>T | CA448716458 | DSP | c.5514C>T (p.Gly1838=) c.6843C>T (p.Gly2281=) c.5046C>T (p.Gly1682=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584106T>A | CA362691685 | DSP | c.5515T>A (p.Leu1839Ile) c.6844T>A (p.Leu2282Ile) c.5047T>A (p.Leu1683Ile) | |
6 | g.7584106T>C | CA448716459 | DSP | c.5515T>C (p.Leu1839=) c.6844T>C (p.Leu2282=) c.5047T>C (p.Leu1683=) | |
6 | g.7584106T>G | CA362691686 | DSP | c.5515T>G (p.Leu1839Val) c.6844T>G (p.Leu2282Val) c.5047T>G (p.Leu1683Val) | COSMIC |
6 | g.7584107T>A | CA362691689 | DSP | c.5516T>A (p.Leu1839Ter) c.6845T>A (p.Leu2282Ter) c.5048T>A (p.Leu1683Ter) | |
6 | g.7584107T>C | CA362691688 | DSP | c.5516T>C (p.Leu1839Ser) c.6845T>C (p.Leu2282Ser) c.5048T>C (p.Leu1683Ser) | |
6 | g.7584107T>G | CA362691687 | DSP | c.5516T>G (p.Leu1839Ter) c.6845T>G (p.Leu2282Ter) c.5048T>G (p.Leu1683Ter) | |
6 | g.7584108A>C | CA362691690 | DSP | c.5517A>C (p.Leu1839Phe) c.6846A>C (p.Leu2282Phe) c.5049A>C (p.Leu1683Phe) | |
6 | g.7584108A>G | CA448716466 | DSP | c.5517A>G (p.Leu1839=) c.6846A>G (p.Leu2282=) c.5049A>G (p.Leu1683=) | |
6 | g.7584108A>T | CA362691691 | DSP | c.5517A>T (p.Leu1839Phe) c.6846A>T (p.Leu2282Phe) c.5049A>T (p.Leu1683Phe) | |
6 | g.7584109G>A | CA362691692 | DSP | c.5518G>A (p.Val1840Ile) c.6847G>A (p.Val2283Ile) c.5050G>A (p.Val1684Ile) | |
6 | g.7584109G>C | CA362691693 | DSP | c.5518G>C (p.Val1840Leu) c.6847G>C (p.Val2283Leu) c.5050G>C (p.Val1684Leu) | dbSNP |
6 | g.7584109G= | CA1608610101 | DSP | c.5518G= (p.Val1840=) c.6847G= (p.Val2283=) c.5050G= (p.Val1684=) | |
6 | g.7584109G>T | CA362691694 | DSP | c.5518G>T (p.Val1840Phe) c.6847G>T (p.Val2283Phe) c.5050G>T (p.Val1684Phe) | |
6 | g.7584110T>A | CA362691695 | DSP | c.5519T>A (p.Val1840Asp) c.6848T>A (p.Val2283Asp) c.5051T>A (p.Val1684Asp) | |
6 | g.7584110T>C | CA362691696 | DSP | c.5519T>C (p.Val1840Ala) c.6848T>C (p.Val2283Ala) c.5051T>C (p.Val1684Ala) | |
6 | g.7584110T>G | CA362691697 | DSP | c.5519T>G (p.Val1840Gly) c.6848T>G (p.Val2283Gly) c.5051T>G (p.Val1684Gly) | |
6 | g.7584111C>A | CA448716468 | DSP | c.5520C>A (p.Val1840=) c.6849C>A (p.Val2283=) c.5052C>A (p.Val1684=) | |
6 | g.7584111C>G | CA448716469 | DSP | c.5520C>G (p.Val1840=) c.6849C>G (p.Val2283=) c.5052C>G (p.Val1684=) | ClinVar dbSNP gnomAD v4 |
6 | g.7584111C>T | CA448716470 | DSP | c.5520C>T (p.Val1840=) c.6849C>T (p.Val2283=) c.5052C>T (p.Val1684=) | |
6 | g.7584111_7584112delinsTT | CA645552060 | DSP | c.5520_5521delinsTT (p.Val1841Ter) c.6849_6850delinsTT (p.Val2284Ter) c.5052_5053delinsTT (p.Val1685Ter) | COSMIC |
6 | g.7584112C>A | CA448716473 | DSP | c.5521C>A (p.Arg1841=) c.6850C>A (p.Arg2284=) c.5053C>A (p.Arg1685=) | |
6 | g.7584112C= | CA1608610108 | DSP | c.5521C= (p.Arg1841=) c.6850C= (p.Arg2284=) c.5053C= (p.Arg1685=) | |
6 | g.7584112C>G | CA362691698 | DSP | c.5521C>G (p.Arg1841Gly) c.6850C>G (p.Arg2284Gly) c.5053C>G (p.Arg1685Gly) | |
6 | g.7584112C>T | CA007041 | DSP | c.5521C>T (p.Arg1841Ter) c.6850C>T (p.Arg2284Ter) c.5053C>T (p.Arg1685Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.7584113G>A | CA362691699 | DSP | c.5522G>A (p.Arg1841Gln) c.6851G>A (p.Arg2284Gln) c.5054G>A (p.Arg1685Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7584113G>C | CA362691700 | DSP | c.5522G>C (p.Arg1841Pro) c.6851G>C (p.Arg2284Pro) c.5054G>C (p.Arg1685Pro) | |
6 | g.7584113G= | CA1608610117 | DSP | c.5522G= (p.Arg1841=) c.6851G= (p.Arg2284=) c.5054G= (p.Arg1685=) | |
6 | g.7584113G>T | CA362691701 | DSP | c.5522G>T (p.Arg1841Leu) c.6851G>T (p.Arg2284Leu) c.5054G>T (p.Arg1685Leu) | |
6 | g.7584114A= | CA1608610126 | DSP | c.5523A= (p.Arg1841=) c.6852A= (p.Arg2284=) c.5055A= (p.Arg1685=) | |
6 | g.7584114A>C | CA448716480 | DSP | c.5523A>C (p.Arg1841=) c.6852A>C (p.Arg2284=) c.5055A>C (p.Arg1685=) | |
6 | g.7584114A>G | CA048482 | DSP | c.5523A>G (p.Arg1841=) c.6852A>G (p.Arg2284=) c.5055A>G (p.Arg1685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584114A>T | CA448716482 | DSP | c.5523A>T (p.Arg1841=) c.6852A>T (p.Arg2284=) c.5055A>T (p.Arg1685=) | ClinVar dbSNP |
6 | g.7584115C>A | CA007050 | DSP | c.5524C>A (p.Pro1842Thr) c.6853C>A (p.Pro2285Thr) c.5056C>A (p.Pro1686Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |