Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.120788815del | CA2695208541 | TSPAN12 | c.695del (p.Val232GlyfsTer7) c.674del (n.674del) c.620del (p.Val207GlyfsTer7) | |
7 | g.120788815A= | CA1738876495 | TSPAN12 | c.695T= (p.Val232=) c.674T= (n.674T=) c.620T= (p.Val207=) | |
7 | g.120788815A>C | CA369133780 | TSPAN12 | c.695T>G (p.Val232Gly) c.674T>G (n.674T>G) c.620T>G (p.Val207Gly) | |
7 | g.120788815A>G | CA4453820 | TSPAN12 | c.695T>C (p.Val232Ala) c.674T>C (n.674T>C) c.620T>C (p.Val207Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788815A>T | CA369133781 | TSPAN12 | c.695T>A (p.Val232Glu) c.674T>A (n.674T>A) c.620T>A (p.Val207Glu) | |
7 | g.120788816C>A | CA369133782 | TSPAN12 | c.694G>T (p.Val232Leu) c.673G>T (n.673G>T) c.619G>T (p.Val207Leu) | gnomAD v4 |
7 | g.120788816C= | CA1738876501 | TSPAN12 | c.694G= (p.Val232=) c.673G= (n.673G=) c.619G= (p.Val207=) | |
7 | g.120788816C>G | CA369133784 | TSPAN12 | c.694G>C (p.Val232Leu) c.673G>C (n.673G>C) c.619G>C (p.Val207Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788816C>T | CA369133783 | TSPAN12 | c.694G>A (p.Val232Met) c.673G>A (n.673G>A) c.619G>A (p.Val207Met) | |
7 | g.120788817C>A | CA457393717 | TSPAN12 | c.693G>T (p.Gly231=) c.672G>T (n.672G>T) c.618G>T (p.Gly206=) | |
7 | g.120788817C= | CA1738876503 | TSPAN12 | c.693G= (p.Gly231=) c.672G= (n.672G=) c.618G= (p.Gly206=) | |
7 | g.120788817C>G | CA457393718 | TSPAN12 | c.693G>C (p.Gly231=) c.672G>C (n.672G>C) c.618G>C (p.Gly206=) | dbSNP |
7 | g.120788817C>T | CA457393719 | TSPAN12 | c.693G>A (p.Gly231=) c.672G>A (n.672G>A) c.618G>A (p.Gly206=) | gnomAD v4 |
7 | g.120788818C>A | CA369133785 | TSPAN12 | c.692G>T (p.Gly231Val) c.671G>T (n.671G>T) c.617G>T (p.Gly206Val) | COSMIC |
7 | g.120788818C>G | CA369133786 | TSPAN12 | c.692G>C (p.Gly231Ala) c.671G>C (n.671G>C) c.617G>C (p.Gly206Ala) | |
7 | g.120788818C>T | CA369133787 | TSPAN12 | c.692G>A (p.Gly231Glu) c.671G>A (n.671G>A) c.617G>A (p.Gly206Glu) | |
7 | g.120788819C>A | CA369133788 | TSPAN12 | c.691G>T (p.Gly231Trp) c.670G>T (n.670G>T) c.616G>T (p.Gly206Trp) | dbSNP |
7 | g.120788819C= | CA1738876508 | TSPAN12 | c.691G= (p.Gly231=) c.670G= (n.670G=) c.616G= (p.Gly206=) | |
7 | g.120788819C>G | CA369133789 | TSPAN12 | c.691G>C (p.Gly231Arg) c.670G>C (n.670G>C) c.616G>C (p.Gly206Arg) | |
7 | g.120788819C>T | CA369133790 | TSPAN12 | c.691G>A (p.Gly231Arg) c.670G>A (n.670G>A) c.616G>A (p.Gly206Arg) | |
7 | g.120788820A= | CA1738876515 | TSPAN12 | c.690T= (p.Ile230=) c.669T= (n.669T=) c.615T= (p.Ile205=) | |
7 | g.120788820A>C | CA369133791 | TSPAN12 | c.690T>G (p.Ile230Met) c.669T>G (n.669T>G) c.615T>G (p.Ile205Met) | |
7 | g.120788820A>G | CA4453821 | TSPAN12 | c.690T>C (p.Ile230=) c.669T>C (n.669T>C) c.615T>C (p.Ile205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788820A>T | CA457393720 | TSPAN12 | c.690T>A (p.Ile230=) c.669T>A (n.669T>A) c.615T>A (p.Ile205=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788821A= | CA1738876523 | TSPAN12 | c.689T= (p.Ile230=) c.668T= (n.668T=) c.614T= (p.Ile205=) | |
7 | g.120788821A>C | CA369133792 | TSPAN12 | c.689T>G (p.Ile230Ser) c.668T>G (n.668T>G) c.614T>G (p.Ile205Ser) | |
7 | g.120788821A>G | CA4453822 | TSPAN12 | c.689T>C (p.Ile230Thr) c.668T>C (n.668T>C) c.614T>C (p.Ile205Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788821A>T | CA369133793 | TSPAN12 | c.689T>A (p.Ile230Asn) c.668T>A (n.668T>A) c.614T>A (p.Ile205Asn) | |
7 | g.120788822T>A | CA369133795 | TSPAN12 | c.688A>T (p.Ile230Phe) c.667A>T (n.667A>T) c.613A>T (p.Ile205Phe) | |
7 | g.120788822T>C | CA165834847 | TSPAN12 | c.688A>G (p.Ile230Val) c.667A>G (n.667A>G) c.613A>G (p.Ile205Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788822T>G | CA369133794 | TSPAN12 | c.688A>C (p.Ile230Leu) c.667A>C (n.667A>C) c.613A>C (p.Ile205Leu) | ClinVar dbSNP |
7 | g.120788822T= | CA1738876528 | TSPAN12 | c.688A= (p.Ile230=) c.667A= (n.667A=) c.613A= (p.Ile205=) | |
7 | g.120788823G>A | CA457393721 | TSPAN12 | c.687C>T (p.Ser229=) c.666C>T (n.666C>T) c.612C>T (p.Ser204=) | dbSNP |
7 | g.120788823G>C | CA457393722 | TSPAN12 | c.687C>G (p.Ser229=) c.666C>G (n.666C>G) c.612C>G (p.Ser204=) | |
7 | g.120788823G= | CA1738876532 | TSPAN12 | c.687C= (p.Ser229=) c.666C= (n.666C=) c.612C= (p.Ser204=) | |
7 | g.120788823G>T | CA457393723 | TSPAN12 | c.687C>A (p.Ser229=) c.666C>A (n.666C>A) c.612C>A (p.Ser204=) | |
7 | g.120788824G>A | CA369133796 | TSPAN12 | c.686C>T (p.Ser229Phe) c.665C>T (n.665C>T) c.611C>T (p.Ser204Phe) | COSMIC |
7 | g.120788824G>C | CA369133797 | TSPAN12 | c.686C>G (p.Ser229Cys) c.665C>G (n.665C>G) c.611C>G (p.Ser204Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788824G= | CA1738876535 | TSPAN12 | c.686C= (p.Ser229=) c.665C= (n.665C=) c.611C= (p.Ser204=) | |
7 | g.120788824G>T | CA369133798 | TSPAN12 | c.686C>A (p.Ser229Tyr) c.665C>A (n.665C>A) c.611C>A (p.Ser204Tyr) | |
7 | g.120788825A>C | CA369133799 | TSPAN12 | c.685T>G (p.Ser229Ala) c.664T>G (n.664T>G) c.610T>G (p.Ser204Ala) | |
7 | g.120788825A>G | CA369133800 | TSPAN12 | c.685T>C (p.Ser229Pro) c.664T>C (n.664T>C) c.610T>C (p.Ser204Pro) | |
7 | g.120788825A>T | CA369133801 | TSPAN12 | c.685T>A (p.Ser229Thr) c.664T>A (n.664T>A) c.610T>A (p.Ser204Thr) | |
7 | g.120788826G>A | CA457393724 | TSPAN12 | c.684C>T (p.Ile228=) c.663C>T (n.663C>T) c.609C>T (p.Ile203=) | |
7 | g.120788826G>C | CA369133802 | TSPAN12 | c.684C>G (p.Ile228Met) c.663C>G (n.663C>G) c.609C>G (p.Ile203Met) | |
7 | g.120788826G>T | CA457393725 | TSPAN12 | c.684C>A (p.Ile228=) c.663C>A (n.663C>A) c.609C>A (p.Ile203=) | |
7 | g.120788827A>C | CA369133803 | TSPAN12 | c.683T>G (p.Ile228Ser) c.662T>G (n.662T>G) c.608T>G (p.Ile203Ser) | |
7 | g.120788827A>G | CA369133804 | TSPAN12 | c.683T>C (p.Ile228Thr) c.662T>C (n.662T>C) c.608T>C (p.Ile203Thr) | |
7 | g.120788827A>T | CA369133805 | TSPAN12 | c.683T>A (p.Ile228Asn) c.662T>A (n.662T>A) c.608T>A (p.Ile203Asn) | |
7 | g.120788828T>A | CA369133806 | TSPAN12 | c.682A>T (p.Ile228Phe) c.661A>T (n.661A>T) c.607A>T (p.Ile203Phe) |