Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | ClinVar |
17 | g.80104638_80104640del | CA2640274157 | GAA | c.52_54del (p.Leu18del) | gnomAD v4 |
17 | g.80104640C>A | CA502177006 | GAA | c.54C>A (p.Leu18=) | |
17 | g.80104640C= | CA2277810560 | GAA | c.54C= (p.Leu18=) | |
17 | g.80104640C>G | CA502177008 | GAA | c.54C>G (p.Leu18=) | ClinVar dbSNP gnomAD v4 |
17 | g.80104640C>T | CA10647040 | GAA | c.54C>T (p.Leu18=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104640_80104641del | CA913014071 | GAA | c.54_55del (p.Ser20LeufsTer14) | |
17 | g.80104640_80104641delinsCG | CA2277810561 | GAA | c.54_55delinsCG (p.Leu18=) | |
17 | g.80104641del | CA658824772 | GAA | c.55del (p.Val19CysfsTer24) | ClinVar dbSNP |
17 | g.80104641G>A | CA8814774 | GAA | c.55G>A (p.Val19Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104641G>C | CA401360073 | GAA | c.55G>C (p.Val19Leu) | |
17 | g.80104641G= | CA2277810562 | GAA | c.55G= (p.Val19=) | |
17 | g.80104641G>T | CA401360075 | GAA | c.55G>T (p.Val19Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104642T>A | CA401360077 | GAA | c.56T>A (p.Val19Glu) | |
17 | g.80104642T>C | CA401360079 | GAA | c.56T>C (p.Val19Ala) | gnomAD v4 |
17 | g.80104642T>G | CA401360081 | GAA | c.56T>G (p.Val19Gly) | |
17 | g.80104643G>A | CA502177014 | GAA | c.57G>A (p.Val19=) | |
17 | g.80104643G>C | CA502177016 | GAA | c.57G>C (p.Val19=) | |
17 | g.80104643G>T | CA502177020 | GAA | c.57G>T (p.Val19=) | |
17 | g.80104644T>A | CA401360089 | GAA | c.58T>A (p.Ser20Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104644T>C | CA401360084 | GAA | c.58T>C (p.Ser20Pro) | |
17 | g.80104644T>G | CA401360086 | GAA | c.58T>G (p.Ser20Ala) | |
17 | g.80104644T= | CA2277810563 | GAA | c.58T= (p.Ser20=) | |
17 | g.80104645C>A | CA401360091 | GAA | c.59C>A (p.Ser20Tyr) | |
17 | g.80104645C= | CA2277810564 | GAA | c.59C= (p.Ser20=) | |
17 | g.80104645C>G | CA16607527 | GAA | c.59C>G (p.Ser20Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.80104645C>T | CA8814775 | GAA | c.59C>T (p.Ser20Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104646C>A | CA502177027 | GAA | c.60C>A (p.Ser20=) | |
17 | g.80104646C= | CA2277810565 | GAA | c.60C= (p.Ser20=) | |
17 | g.80104646C>G | CA502177028 | GAA | c.60C>G (p.Ser20=) | dbSNP gnomAD v4 |
17 | g.80104646C>T | CA502177029 | GAA | c.60C>T (p.Ser20=) | |
17 | g.80104647T>A | CA401360095 | GAA | c.61T>A (p.Leu21Met) | |
17 | g.80104647T>C | CA502177030 | GAA | c.61T>C (p.Leu21=) | |
17 | g.80104647T>G | CA401360097 | GAA | c.61T>G (p.Leu21Val) | |
17 | g.80104648T>A | CA401360100 | GAA | c.62T>A (p.Leu21Ter) | |
17 | g.80104648T>C | CA401360104 | GAA | c.62T>C (p.Leu21Ser) | |
17 | g.80104648T>G | CA401360102 | GAA | c.62T>G (p.Leu21Trp) | |
17 | g.80104649G>A | CA502177034 | GAA | c.63G>A (p.Leu21=) | |
17 | g.80104649G>C | CA401360106 | GAA | c.63G>C (p.Leu21Phe) | |
17 | g.80104649G>T | CA401360108 | GAA | c.63G>T (p.Leu21Phe) | gnomAD v4 |
17 | g.80104650G>A | CA401360111 | GAA | c.64G>A (p.Ala22Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104650G>C | CA401360113 | GAA | c.64G>C (p.Ala22Pro) | |
17 | g.80104650G= | CA2277810566 | GAA | c.64G= (p.Ala22=) | |
17 | g.80104650G>T | CA401360116 | GAA | c.64G>T (p.Ala22Ser) | |
17 | g.80104651C>A | CA401360119 | GAA | c.65C>A (p.Ala22Glu) | gnomAD v4 |
17 | g.80104651C= | CA2277810567 | GAA | c.65C= (p.Ala22=) | |
17 | g.80104651C>G | CA401360121 | GAA | c.65C>G (p.Ala22Gly) | |
17 | g.80104651C>T | CA8814776 | GAA | c.65C>T (p.Ala22Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104652A>C | CA502177040 | GAA | c.66A>C (p.Ala22=) | gnomAD v4 |
17 | g.80104652A>G | CA502177041 | GAA | c.66A>G (p.Ala22=) |