Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.2717846_2718030dup | CA658657856 | KCNV2 | c.107_291dup (p.Thr98ValfsTer64) n.608_792dup | ClinVar dbSNP |
9 | g.2717963_2717980del | CA2689257392 | KCNV2 | c.224_241del (p.Asp75_Glu80del) n.725_742del | gnomAD v4 |
9 | g.2717963_2717969del | CA2695210391 | KCNV2 | c.224_230del (p.Asp75GlyfsTer23) n.725_731del | |
9 | g.2717965C>A | CA372796057 | KCNV2 | c.226C>A (p.Gln76Lys) n.727C>A | |
9 | g.2717965C= | CA1828287927 | KCNV2 | c.226C= (p.Gln76=) n.727C= | |
9 | g.2717965C>G | CA372796054 | KCNV2 | c.226C>G (p.Gln76Glu) n.727C>G | |
9 | g.2717965C>T | CA130127 | KCNV2 | c.226C>T (p.Gln76Ter) n.727C>T | ClinVar dbSNP gnomAD v4 |
9 | g.2717966A= | CA1828287933 | KCNV2 | c.227A= (p.Gln76=) n.728A= | |
9 | g.2717966A>C | CA372796060 | KCNV2 | c.227A>C (p.Gln76Pro) n.728A>C | dbSNP |
9 | g.2717966A>G | CA372796062 | KCNV2 | c.227A>G (p.Gln76Arg) n.728A>G | |
9 | g.2717966A>T | CA372796064 | KCNV2 | c.227A>T (p.Gln76Leu) n.728A>T | |
9 | g.2717966_2717967insCC | CA2689257394 | KCNV2 | c.227_228insCC (p.Gln76HisfsTer25) n.728_729insCC | gnomAD v4 |
9 | g.2717967G>A | CA463853052 | KCNV2 | c.228G>A (p.Gln76=) n.729G>A | gnomAD v4 |
9 | g.2717967G>C | CA372796067 | KCNV2 | c.228G>C (p.Gln76His) n.729G>C | gnomAD v4 |
9 | g.2717967G= | CA1828287935 | KCNV2 | c.228G= (p.Gln76=) n.729G= | |
9 | g.2717967G>T | CA372796068 | KCNV2 | c.228G>T (p.Gln76His) n.729G>T | ClinVar dbSNP gnomAD v4 |
9 | g.2717972_2717975dup | CA2689257395 | KCNV2 | c.233_236dup (p.Glu80ArgfsTer?) n.734_737dup | gnomAD v4 |
9 | g.2717968C>A | CA372796070 | KCNV2 | c.229C>A (p.Gln77Lys) n.730C>A | |
9 | g.2717968C= | CA1828287938 | KCNV2 | c.229C= (p.Gln77=) n.730C= | |
9 | g.2717968C>G | CA372796074 | KCNV2 | c.229C>G (p.Gln77Glu) n.730C>G | gnomAD v4 |
9 | g.2717968C>T | CA372796072 | KCNV2 | c.229C>T (p.Gln77Ter) n.730C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.2717968_2717969insCT | CA2689257396 | KCNV2 | c.229_230insCT (p.Gln77ProfsTer24) n.730_731insCT | gnomAD v4 |
9 | g.2717969A= | CA1828287940 | KCNV2 | c.230A= (p.Gln77=) n.731A= | |
9 | g.2717969A>C | CA4965376 | KCNV2 | c.230A>C (p.Gln77Pro) n.731A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717969A>G | CA372796078 | KCNV2 | c.230A>G (p.Gln77Arg) n.731A>G | |
9 | g.2717969A>T | CA372796080 | KCNV2 | c.230A>T (p.Gln77Leu) n.731A>T | gnomAD v4 |
9 | g.2717970G>A | CA463853054 | KCNV2 | c.231G>A (p.Gln77=) n.732G>A | dbSNP gnomAD v4 |
9 | g.2717970G>C | CA372796082 | KCNV2 | c.231G>C (p.Gln77His) n.732G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.2717970G= | CA1828287943 | KCNV2 | c.231G= (p.Gln77=) n.732G= | |
9 | g.2717970G>T | CA372796084 | KCNV2 | c.231G>T (p.Gln77His) n.732G>T | |
9 | g.2717971G>A | CA372796087 | KCNV2 | c.232G>A (p.Ala78Thr) n.733G>A | gnomAD v4 |
9 | g.2717971G>C | CA372796091 | KCNV2 | c.232G>C (p.Ala78Pro) n.733G>C | |
9 | g.2717971G>T | CA372796093 | KCNV2 | c.232G>T (p.Ala78Ser) n.733G>T | |
9 | g.2717972C>A | CA4965377 | KCNV2 | c.233C>A (p.Ala78Glu) n.734C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.2717972C= | CA1828287944 | KCNV2 | c.233C= (p.Ala78=) n.734C= | |
9 | g.2717972C>G | CA372796096 | KCNV2 | c.233C>G (p.Ala78Gly) n.734C>G | |
9 | g.2717972C>T | CA372796098 | KCNV2 | c.233C>T (p.Ala78Val) n.734C>T | |
9 | g.2717973A>C | CA463853056 | KCNV2 | c.234A>C (p.Ala78=) n.735A>C | gnomAD v4 |
9 | g.2717973A>G | CA463853057 | KCNV2 | c.234A>G (p.Ala78=) n.735A>G | COSMIC |
9 | g.2717973A>T | CA463853055 | KCNV2 | c.234A>T (p.Ala78=) n.735A>T | gnomAD v4 |
9 | g.2717973_2717974delinsAG | CA1828287946 | KCNV2 | c.234_235delinsAG (p.Ala78=) n.735_736delinsAG | |
9 | g.2717974G>A | CA372796104 | KCNV2 | c.235G>A (p.Gly79Arg) n.736G>A | dbSNP |
9 | g.2717974G>C | CA372796102 | KCNV2 | c.235G>C (p.Gly79Arg) n.736G>C | dbSNP |
9 | g.2717974G= | CA1828287948 | KCNV2 | c.235G= (p.Gly79=) n.736G= | |
9 | g.2717974G>T | CA372796100 | KCNV2 | c.235G>T (p.Gly79Trp) n.736G>T | dbSNP |
9 | g.2717977del | CA1828287947 | KCNV2 | c.238del (p.Glu80ArgfsTer20) n.739del | dbSNP |
9 | g.2717974_2717975insAAGAGGACCAGCAGGCAT | CA1828287950 | KCNV2 | c.235_236insAAGAGGACCAGCAGGCAT (p.Gly79delinsGluGluAspGlnGlnAlaTrp) n.736_737insAAGAGGACCAGCAGGCAT | dbSNP gnomAD v4 |
9 | g.2717975G>A | CA187970768 | KCNV2 | c.236G>A (p.Gly79Glu) n.737G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.2717975G>C | CA187970749 | KCNV2 | c.236G>C (p.Gly79Ala) n.737G>C | dbSNP gnomAD v4 |
9 | g.2717975G= | CA1828287951 | KCNV2 | c.236G= (p.Gly79=) n.737G= |