Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477874G>A | CA6798691 | PTPN11 | c.951G>A (p.Lys317=) c.837G>A (p.Lys279=) c.948G>A (p.Lys316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477874G>C | CA386791071 | PTPN11 | c.951G>C (p.Lys317Asn) c.837G>C (p.Lys279Asn) c.948G>C (p.Lys316Asn) | |
12 | g.112477874G= | CA2063775941 | PTPN11 | c.951G= (p.Lys317=) c.837G= (p.Lys279=) c.948G= (p.Lys316=) | |
12 | g.112477874G>T | CA386791073 | PTPN11 | c.951G>T (p.Lys317Asn) c.837G>T (p.Lys279Asn) c.948G>T (p.Lys316Asn) | |
12 | g.112477875T>A | CA386791077 | PTPN11 | c.952T>A (p.Cys318Ser) c.838T>A (p.Cys280Ser) c.949T>A (p.Cys317Ser) | |
12 | g.112477875T>C | CA386791084 | PTPN11 | c.952T>C (p.Cys318Arg) c.838T>C (p.Cys280Arg) c.949T>C (p.Cys317Arg) | |
12 | g.112477875T>G | CA386791087 | PTPN11 | c.952T>G (p.Cys318Gly) c.838T>G (p.Cys280Gly) c.949T>G (p.Cys317Gly) | |
12 | g.112477876G>A | CA6798692 | PTPN11 | c.953G>A (p.Cys318Tyr) c.839G>A (p.Cys280Tyr) c.950G>A (p.Cys317Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477876G>C | CA386791092 | PTPN11 | c.953G>C (p.Cys318Ser) c.839G>C (p.Cys280Ser) c.950G>C (p.Cys317Ser) | dbSNP |
12 | g.112477876G= | CA2063775942 | PTPN11 | c.953G= (p.Cys318=) c.839G= (p.Cys280=) c.950G= (p.Cys317=) | |
12 | g.112477876G>T | CA386791093 | PTPN11 | c.953G>T (p.Cys318Phe) c.839G>T (p.Cys280Phe) c.950G>T (p.Cys317Phe) | |
12 | g.112477877C>A | CA386791095 | PTPN11 | c.954C>A (p.Cys318Ter) c.840C>A (p.Cys280Ter) c.951C>A (p.Cys317Ter) | |
12 | g.112477877C>G | CA386791097 | PTPN11 | c.954C>G (p.Cys318Trp) c.840C>G (p.Cys280Trp) c.951C>G (p.Cys317Trp) | |
12 | g.112477877C>T | CA481887808 | PTPN11 | c.954C>T (p.Cys318=) c.840C>T (p.Cys280=) c.951C>T (p.Cys317=) | dbSNP gnomAD v4 |
12 | g.112477878A= | CA2063775943 | PTPN11 | c.955A= (p.Asn319=) c.841A= (p.Asn281=) c.952A= (p.Asn318=) | |
12 | g.112477878A>C | CA386791099 | PTPN11 | c.955A>C (p.Asn319His) c.841A>C (p.Asn281His) c.952A>C (p.Asn318His) | |
12 | g.112477878A>G | CA386791102 | PTPN11 | c.955A>G (p.Asn319Asp) c.841A>G (p.Asn281Asp) c.952A>G (p.Asn318Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.112477878A>T | CA386791104 | PTPN11 | c.955A>T (p.Asn319Tyr) c.841A>T (p.Asn281Tyr) c.952A>T (p.Asn318Tyr) | dbSNP |
12 | g.112477879A= | CA2063775944 | PTPN11 | c.956A= (p.Asn319=) c.842A= (p.Asn281=) c.953A= (p.Asn318=) | |
12 | g.112477879A>C | CA386791108 | PTPN11 | c.956A>C (p.Asn319Thr) c.842A>C (p.Asn281Thr) c.953A>C (p.Asn318Thr) | |
12 | g.112477879A>G | CA386791109 | PTPN11 | c.956A>G (p.Asn319Ser) c.842A>G (p.Asn281Ser) c.953A>G (p.Asn318Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477879A>T | CA386791107 | PTPN11 | c.956A>T (p.Asn319Ile) c.842A>T (p.Asn281Ile) c.953A>T (p.Asn318Ile) | |
12 | g.112477880C>A | CA386791110 | PTPN11 | c.957C>A (p.Asn319Lys) c.843C>A (p.Asn281Lys) c.954C>A (p.Asn318Lys) | |
12 | g.112477880C= | CA2063775945 | PTPN11 | c.957C= (p.Asn319=) c.843C= (p.Asn281=) c.954C= (p.Asn318=) | |
12 | g.112477880C>G | CA386791112 | PTPN11 | c.957C>G (p.Asn319Lys) c.843C>G (p.Asn281Lys) c.954C>G (p.Asn318Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477880C>T | CA6798693 | PTPN11 | c.957C>T (p.Asn319=) c.843C>T (p.Asn281=) c.954C>T (p.Asn318=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.112477881A>C | CA386791118 | PTPN11 | c.958A>C (p.Asn320His) c.844A>C (p.Asn282His) c.955A>C (p.Asn319His) | |
12 | g.112477881A>G | CA386791119 | PTPN11 | c.958A>G (p.Asn320Asp) c.844A>G (p.Asn282Asp) c.955A>G (p.Asn319Asp) | gnomAD v4 |
12 | g.112477881A>T | CA386791122 | PTPN11 | c.958A>T (p.Asn320Tyr) c.844A>T (p.Asn282Tyr) c.955A>T (p.Asn319Tyr) | gnomAD v4 |
12 | g.112477882A= | CA2063775946 | PTPN11 | c.959A= (p.Asn320=) c.845A= (p.Asn282=) c.956A= (p.Asn319=) | |
12 | g.112477882A>C | CA386791132 | PTPN11 | c.959A>C (p.Asn320Thr) c.845A>C (p.Asn282Thr) c.956A>C (p.Asn319Thr) | |
12 | g.112477882A>G | CA386791125 | PTPN11 | c.959A>G (p.Asn320Ser) c.845A>G (p.Asn282Ser) c.956A>G (p.Asn319Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477882A>T | CA386791129 | PTPN11 | c.959A>T (p.Asn320Ile) c.845A>T (p.Asn282Ile) c.956A>T (p.Asn319Ile) | |
12 | g.112477883T>A | CA386791134 | PTPN11 | c.960T>A (p.Asn320Lys) c.846T>A (p.Asn282Lys) c.957T>A (p.Asn319Lys) | |
12 | g.112477883T>C | CA481887821 | PTPN11 | c.960T>C (p.Asn320=) c.846T>C (p.Asn282=) c.957T>C (p.Asn319=) | |
12 | g.112477883T>G | CA386791136 | PTPN11 | c.960T>G (p.Asn320Lys) c.846T>G (p.Asn282Lys) c.957T>G (p.Asn319Lys) | |
12 | g.112477884T>A | CA386791139 | PTPN11 | c.961T>A (p.Ser321Thr) c.847T>A (p.Ser283Thr) c.958T>A (p.Ser320Thr) | dbSNP |
12 | g.112477884T>C | CA386791144 | PTPN11 | c.961T>C (p.Ser321Pro) c.847T>C (p.Ser283Pro) c.958T>C (p.Ser320Pro) | |
12 | g.112477884T>G | CA386791146 | PTPN11 | c.961T>G (p.Ser321Ala) c.847T>G (p.Ser283Ala) c.958T>G (p.Ser320Ala) | gnomAD v4 |
12 | g.112477885C>A | CA386791147 | PTPN11 | c.962C>A (p.Ser321Ter) c.848C>A (p.Ser283Ter) c.959C>A (p.Ser320Ter) | |
12 | g.112477885C>G | CA386791152 | PTPN11 | c.962C>G (p.Ser321Ter) c.848C>G (p.Ser283Ter) c.959C>G (p.Ser320Ter) | |
12 | g.112477885C>T | CA386791149 | PTPN11 | c.962C>T (p.Ser321Leu) c.848C>T (p.Ser283Leu) c.959C>T (p.Ser320Leu) | |
12 | g.112477886A>C | CA481887826 | PTPN11 | c.963A>C (p.Ser321=) c.849A>C (p.Ser283=) c.960A>C (p.Ser320=) | |
12 | g.112477886A>G | CA481887829 | PTPN11 | c.963A>G (p.Ser321=) c.849A>G (p.Ser283=) c.960A>G (p.Ser320=) | |
12 | g.112477886A>T | CA481887827 | PTPN11 | c.963A>T (p.Ser321=) c.849A>T (p.Ser283=) c.960A>T (p.Ser320=) | |
12 | g.112477887A>C | CA386791156 | PTPN11 | c.964A>C (p.Lys322Gln) c.850A>C (p.Lys284Gln) c.961A>C (p.Lys321Gln) | |
12 | g.112477887A>G | CA386791157 | PTPN11 | c.964A>G (p.Lys322Glu) c.850A>G (p.Lys284Glu) c.961A>G (p.Lys321Glu) | |
12 | g.112477887A>T | CA386791160 | PTPN11 | c.964A>T (p.Lys322Ter) c.850A>T (p.Lys284Ter) c.961A>T (p.Lys321Ter) | |
12 | g.112477888A>C | CA386791163 | PTPN11 | c.965A>C (p.Lys322Thr) c.851A>C (p.Lys284Thr) c.962A>C (p.Lys321Thr) | |
12 | g.112477888A>G | CA386791166 | PTPN11 | c.965A>G (p.Lys322Arg) c.851A>G (p.Lys284Arg) c.962A>G (p.Lys321Arg) | ClinVar |