Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151181424_151181434del | CA2685657246 | ASB10 | c.613_623del (p.Ala205TrpfsTer?) c.568_578del (p.Ala190TrpfsTer?) c.748_758del (p.Ala250TrpfsTer?) | gnomAD v4 |
7 | g.151181424C>A | CA370034653 | ASB10 | c.619G>T (p.Val207Leu) c.574G>T (p.Val192Leu) c.754G>T (p.Val252Leu) | |
7 | g.151181424C= | CA1752540193 | ASB10 | c.619G= (p.Val207=) c.574G= (p.Val192=) c.754G= (p.Val252=) | |
7 | g.151181424C>G | CA143899 | ASB10 | c.619G>C (p.Val207Leu) c.574G>C (p.Val192Leu) c.754G>C (p.Val252Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151181424C>T | CA370034655 | ASB10 | c.619G>A (p.Val207Met) c.574G>A (p.Val192Met) c.754G>A (p.Val252Met) | |
7 | g.151181425T>A | CA370034657 | ASB10 | c.618A>T (p.Arg206Ser) c.573A>T (p.Arg191Ser) c.753A>T (p.Arg251Ser) | |
7 | g.151181425T>C | CA4573813 | ASB10 | c.618A>G (p.Arg206=) c.573A>G (p.Arg191=) c.753A>G (p.Arg251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151181425T>G | CA370034659 | ASB10 | c.618A>C (p.Arg206Ser) c.573A>C (p.Arg191Ser) c.753A>C (p.Arg251Ser) | |
7 | g.151181425T= | CA1752540199 | ASB10 | c.618A= (p.Arg206=) c.573A= (p.Arg191=) c.753A= (p.Arg251=) | |
7 | g.151181426C>A | CA370034661 | ASB10 | c.617G>T (p.Arg206Ile) c.572G>T (p.Arg191Ile) c.752G>T (p.Arg251Ile) | |
7 | g.151181426C= | CA1752540203 | ASB10 | c.617G= (p.Arg206=) c.572G= (p.Arg191=) c.752G= (p.Arg251=) | |
7 | g.151181426C>G | CA370034662 | ASB10 | c.617G>C (p.Arg206Thr) c.572G>C (p.Arg191Thr) c.752G>C (p.Arg251Thr) | gnomAD v4 |
7 | g.151181426C>T | CA4573814 | ASB10 | c.617G>A (p.Arg206Lys) c.572G>A (p.Arg191Lys) c.752G>A (p.Arg251Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151181427T>A | CA370034664 | ASB10 | c.616A>T (p.Arg206Ter) c.571A>T (p.Arg191Ter) c.751A>T (p.Arg251Ter) | |
7 | g.151181427T>C | CA370034666 | ASB10 | c.616A>G (p.Arg206Gly) c.571A>G (p.Arg191Gly) c.751A>G (p.Arg251Gly) | dbSNP |
7 | g.151181427T>G | CA458881274 | ASB10 | c.616A>C (p.Arg206=) c.571A>C (p.Arg191=) c.751A>C (p.Arg251=) | |
7 | g.151181427T= | CA1752540208 | ASB10 | c.616A= (p.Arg206=) c.571A= (p.Arg191=) c.751A= (p.Arg251=) | |
7 | g.151181427_151181428delinsTC | CA1752540206 | ASB10 | c.615_616delinsGA (p.Ala205=) c.570_571delinsGA (p.Ala190=) c.750_751delinsGA (p.Ala250=) | |
7 | g.151181428del | CA579077205 | ASB10 | c.615del (p.Arg206GlufsTer?) c.570del (p.Arg191GlufsTer?) c.750del (p.Arg251GlufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151181428C>A | CA458881275 | ASB10 | c.615G>T (p.Ala205=) c.570G>T (p.Ala190=) c.750G>T (p.Ala250=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151181428C= | CA1752540212 | ASB10 | c.615G= (p.Ala205=) c.570G= (p.Ala190=) c.750G= (p.Ala250=) | |
7 | g.151181428C>G | CA458881277 | ASB10 | c.615G>C (p.Ala205=) c.570G>C (p.Ala190=) c.750G>C (p.Ala250=) | |
7 | g.151181428C>T | CA4573815 | ASB10 | c.615G>A (p.Ala205=) c.570G>A (p.Ala190=) c.750G>A (p.Ala250=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
7 | g.151181429del | CA2579066536 | ASB10 | c.614del (p.Ala205GlyfsTer?) c.569del (p.Ala190GlyfsTer?) c.749del (p.Ala250GlyfsTer?) | |
7 | g.151181429G>A | CA4573816 | ASB10 | c.614C>T (p.Ala205Val) c.569C>T (p.Ala190Val) c.749C>T (p.Ala250Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151181429G>C | CA370034669 | ASB10 | c.614C>G (p.Ala205Gly) c.569C>G (p.Ala190Gly) c.749C>G (p.Ala250Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151181429G= | CA1752540216 | ASB10 | c.614C= (p.Ala205=) c.569C= (p.Ala190=) c.749C= (p.Ala250=) | |
7 | g.151181429G>T | CA4573817 | ASB10 | c.614C>A (p.Ala205Glu) c.569C>A (p.Ala190Glu) c.749C>A (p.Ala250Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151181430C>A | CA370034671 | ASB10 | c.613G>T (p.Ala205Ser) c.568G>T (p.Ala190Ser) c.748G>T (p.Ala250Ser) | gnomAD v4 |
7 | g.151181430C>G | CA370034673 | ASB10 | c.613G>C (p.Ala205Pro) c.568G>C (p.Ala190Pro) c.748G>C (p.Ala250Pro) | |
7 | g.151181430C>T | CA370034674 | ASB10 | c.613G>A (p.Ala205Thr) c.568G>A (p.Ala190Thr) c.748G>A (p.Ala250Thr) | |
7 | g.151181431del | CA2685657247 | ASB10 | c.612del (p.Ala205ArgfsTer?) c.567del (p.Ala190ArgfsTer?) c.747del (p.Ala250ArgfsTer?) | gnomAD v4 |
7 | g.151181431T>A | CA458881281 | ASB10 | c.612A>T (p.Gly204=) c.567A>T (p.Gly189=) c.747A>T (p.Gly249=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151181431T>C | CA458881282 | ASB10 | c.612A>G (p.Gly204=) c.567A>G (p.Gly189=) c.747A>G (p.Gly249=) | dbSNP |
7 | g.151181431T>G | CA458881284 | ASB10 | c.612A>C (p.Gly204=) c.567A>C (p.Gly189=) c.747A>C (p.Gly249=) | |
7 | g.151181431T= | CA1752540225 | ASB10 | c.612A= (p.Gly204=) c.567A= (p.Gly189=) c.747A= (p.Gly249=) | |
7 | g.151181432C>A | CA370034676 | ASB10 | c.611G>T (p.Gly204Val) c.566G>T (p.Gly189Val) c.746G>T (p.Gly249Val) | |
7 | g.151181432C>G | CA370034678 | ASB10 | c.611G>C (p.Gly204Ala) c.566G>C (p.Gly189Ala) c.746G>C (p.Gly249Ala) | |
7 | g.151181432C>T | CA370034679 | ASB10 | c.611G>A (p.Gly204Glu) c.566G>A (p.Gly189Glu) c.746G>A (p.Gly249Glu) | gnomAD v4 |
7 | g.151181434_151181438del | CA2685657248 | ASB10 | c.607_611del (p.Phe203SerfsTer?) c.562_566del (p.Phe188SerfsTer?) c.742_746del (p.Phe248SerfsTer?) | gnomAD v4 |
7 | g.151181433C>A | CA370034681 | ASB10 | c.610G>T (p.Gly204Ter) c.565G>T (p.Gly189Ter) c.745G>T (p.Gly249Ter) | |
7 | g.151181433C= | CA1752540230 | ASB10 | c.610G= (p.Gly204=) c.565G= (p.Gly189=) c.745G= (p.Gly249=) | |
7 | g.151181433C>G | CA370034682 | ASB10 | c.610G>C (p.Gly204Arg) c.565G>C (p.Gly189Arg) c.745G>C (p.Gly249Arg) | |
7 | g.151181433C>T | CA370034684 | ASB10 | c.610G>A (p.Gly204Arg) c.565G>A (p.Gly189Arg) c.745G>A (p.Gly249Arg) | dbSNP |
7 | g.151181434A>C | CA370034686 | ASB10 | c.609T>G (p.Phe203Leu) c.564T>G (p.Phe188Leu) c.744T>G (p.Phe248Leu) | |
7 | g.151181434A>G | CA458881290 | ASB10 | c.609T>C (p.Phe203=) c.564T>C (p.Phe188=) c.744T>C (p.Phe248=) | |
7 | g.151181434A>T | CA370034687 | ASB10 | c.609T>A (p.Phe203Leu) c.564T>A (p.Phe188Leu) c.744T>A (p.Phe248Leu) | |
7 | g.151181435A= | CA1752540233 | ASB10 | c.608T= (p.Phe203=) c.563T= (p.Phe188=) c.743T= (p.Phe248=) | |
7 | g.151181435A>C | CA4573818 | ASB10 | c.608T>G (p.Phe203Cys) c.563T>G (p.Phe188Cys) c.743T>G (p.Phe248Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151181435A>G | CA370034690 | ASB10 | c.608T>C (p.Phe203Ser) c.563T>C (p.Phe188Ser) c.743T>C (p.Phe248Ser) | gnomAD v4 |