Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | ClinVar |
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=) | |
17 | g.80104652A>T | CA502177043 | GAA | c.66A>T (p.Ala22=) | gnomAD v4 |
17 | g.80104653A= | CA2277810568 | GAA | c.67A= (p.Thr23=) | |
17 | g.80104653A>C | CA401360126 | GAA | c.67A>C (p.Thr23Pro) | gnomAD v4 |
17 | g.80104653A>G | CA8814777 | GAA | c.67A>G (p.Thr23Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104653A>T | CA401360129 | GAA | c.67A>T (p.Thr23Ser) | |
17 | g.80104654C>A | CA401360132 | GAA | c.68C>A (p.Thr23Asn) | |
17 | g.80104654C= | CA2277810569 | GAA | c.68C= (p.Thr23=) | |
17 | g.80104654C>G | CA401360136 | GAA | c.68C>G (p.Thr23Ser) | |
17 | g.80104654C>T | CA401360134 | GAA | c.68C>T (p.Thr23Ile) | ClinVar dbSNP |
17 | g.80104655C>A | CA8814778 | GAA | c.69C>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104655C= | CA2277810570 | GAA | c.69C= (p.Thr23=) | |
17 | g.80104655C>G | CA502177050 | GAA | c.69C>G (p.Thr23=) | gnomAD v4 |
17 | g.80104655C>T | CA8814779 | GAA | c.69C>T (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>A | CA8814780 | GAA | c.70G>A (p.Ala24Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>C | CA401360144 | GAA | c.70G>C (p.Ala24Pro) | |
17 | g.80104656G= | CA2277810571 | GAA | c.70G= (p.Ala24=) | |
17 | g.80104656G>T | CA401360146 | GAA | c.70G>T (p.Ala24Ser) | |
17 | g.80104657C>A | CA401360149 | GAA | c.71C>A (p.Ala24Asp) | |
17 | g.80104657C= | CA2277810572 | GAA | c.71C= (p.Ala24=) | |
17 | g.80104657C>G | CA401360152 | GAA | c.71C>G (p.Ala24Gly) | |
17 | g.80104657C>T | CA294886529 | GAA | c.71C>T (p.Ala24Val) | dbSNP |
17 | g.80104658T>A | CA502177056 | GAA | c.72T>A (p.Ala24=) |