Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105757T>A | CA401362061 | GAA | c.555T>A (p.Asp185Glu) | |
17 | g.80105757T>C | CA502177460 | GAA | c.555T>C (p.Asp185=) | |
17 | g.80105757T>G | CA401362062 | GAA | c.555T>G (p.Asp185Glu) | |
17 | g.80105758C>A | CA401362066 | GAA | c.556C>A (p.Pro186Thr) | |
17 | g.80105758C>G | CA401362069 | GAA | c.556C>G (p.Pro186Ala) | |
17 | g.80105758C>T | CA401362065 | GAA | c.556C>T (p.Pro186Ser) | ClinVar |
17 | g.80105759C>A | CA401362072 | GAA | c.557C>A (p.Pro186Gln) | ClinVar |
17 | g.80105759C>G | CA401362071 | GAA | c.557C>G (p.Pro186Arg) | |
17 | g.80105759C>T | CA401362074 | GAA | c.557C>T (p.Pro186Leu) | gnomAD v4 |
17 | g.80105760A= | CA2277811220 | GAA | c.558A= (p.Pro186=) | |
17 | g.80105760A>C | CA502177465 | GAA | c.558A>C (p.Pro186=) | |
17 | g.80105760A>G | CA502177468 | GAA | c.558A>G (p.Pro186=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105760A>T | CA502177466 | GAA | c.558A>T (p.Pro186=) | |
17 | g.80105761G>A | CA401362076 | GAA | c.559G>A (p.Ala187Thr) | |
17 | g.80105761G>C | CA401362078 | GAA | c.559G>C (p.Ala187Pro) | |
17 | g.80105761G>T | CA401362080 | GAA | c.559G>T (p.Ala187Ser) | gnomAD v4 COSMIC |
17 | g.80105762C>A | CA401362082 | GAA | c.560C>A (p.Ala187Asp) | |
17 | g.80105762C= | CA2277811221 | GAA | c.560C= (p.Ala187=) | |
17 | g.80105762C>G | CA8814928 | GAA | c.560C>G (p.Ala187Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105762C>T | CA401362084 | GAA | c.560C>T (p.Ala187Val) | |
17 | g.80105763T>A | CA502177472 | GAA | c.561T>A (p.Ala187=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105763T>C | CA502177474 | GAA | c.561T>C (p.Ala187=) | |
17 | g.80105763T>G | CA502177476 | GAA | c.561T>G (p.Ala187=) | |
17 | g.80105763T= | CA2277811222 | GAA | c.561T= (p.Ala187=) | |
17 | g.80105764A= | CA2277811223 | GAA | c.562A= (p.Asn188=) | |
17 | g.80105764A>C | CA401362086 | GAA | c.562A>C (p.Asn188His) | |
17 | g.80105764A>G | CA294888081 | GAA | c.562A>G (p.Asn188Asp) | dbSNP gnomAD v4 |
17 | g.80105764A>T | CA401362088 | GAA | c.562A>T (p.Asn188Tyr) | |
17 | g.80105765A>C | CA401362090 | GAA | c.563A>C (p.Asn188Thr) | |
17 | g.80105765A>G | CA401362092 | GAA | c.563A>G (p.Asn188Ser) | COSMIC |
17 | g.80105765A>T | CA401362094 | GAA | c.563A>T (p.Asn188Ile) | |
17 | g.80105766C>A | CA401362095 | GAA | c.564C>A (p.Asn188Lys) | |
17 | g.80105766C= | CA2277811224 | GAA | c.564C= (p.Asn188=) | |
17 | g.80105766C>G | CA401362097 | GAA | c.564C>G (p.Asn188Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105766C>T | CA502177484 | GAA | c.564C>T (p.Asn188=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105767A>C | CA502177485 | GAA | c.565A>C (p.Arg189=) | |
17 | g.80105767A>G | CA401362099 | GAA | c.565A>G (p.Arg189Gly) | |
17 | g.80105767A>T | CA401362100 | GAA | c.565A>T (p.Arg189Trp) | |
17 | g.80105768G>A | CA401362102 | GAA | c.566G>A (p.Arg189Lys) | ClinVar dbSNP |
17 | g.80105768G>C | CA401362104 | GAA | c.566G>C (p.Arg189Thr) | |
17 | g.80105768G= | CA2277811225 | GAA | c.566G= (p.Arg189=) | |
17 | g.80105768G>T | CA401362106 | GAA | c.566G>T (p.Arg189Met) | gnomAD v4 |
17 | g.80105769G>A | CA502177491 | GAA | c.567G>A (p.Arg189=) | ClinVar gnomAD v4 |
17 | g.80105769G>C | CA401362108 | GAA | c.567G>C (p.Arg189Ser) | |
17 | g.80105769G>T | CA401362111 | GAA | c.567G>T (p.Arg189Ser) | gnomAD v4 |
17 | g.80105770C>A | CA401362112 | GAA | c.568C>A (p.Arg190Ser) | |
17 | g.80105770C= | CA2277811226 | GAA | c.568C= (p.Arg190=) | |
17 | g.80105770C>G | CA401362114 | GAA | c.568C>G (p.Arg190Gly) | |
17 | g.80105770C>T | CA8814929 | GAA | c.568C>T (p.Arg190Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |