Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89330213C>A | CA492080655 | POLG,POLGARF | c.723G>T (p.Pro241=) c.778G>T (p.Gly260Cys) c.324G>T (p.Pro108=) c.98G>T c.380G>T n.921G>T c.*106G>T (n.*106G>T) | |
15 | g.89330213C= | CA2194565504 | POLG,POLGARF | c.723G= (p.Pro241=) c.778G= (p.Gly260=) c.324G= (p.Pro108=) c.98G= c.380G= n.921G= c.*106G= (n.*106G=) | |
15 | g.89330213C>G | CA492080654 | POLG,POLGARF | c.723G>C (p.Pro241=) c.778G>C (p.Gly260Arg) c.324G>C (p.Pro108=) c.98G>C c.380G>C n.921G>C c.*106G>C (n.*106G>C) | |
15 | g.89330213C>T | CA16607075 | POLG,POLGARF | c.723G>A (p.Pro241=) c.778G>A (p.Gly260Ser) c.324G>A (p.Pro108=) c.98G>A c.380G>A n.921G>A c.*106G>A (n.*106G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.89330214G>A | CA393767074 | POLG,POLGARF | c.722C>T (p.Pro241Leu) c.777C>T (p.Ala259=) c.323C>T (p.Pro108Leu) c.97C>T c.379C>T n.920C>T c.*105C>T (n.*105C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89330214G>C | CA393767078 | POLG,POLGARF | c.722C>G (p.Pro241Arg) c.777C>G (p.Ala259=) c.323C>G (p.Pro108Arg) c.97C>G c.379C>G n.920C>G c.*105C>G (n.*105C>G) | |
15 | g.89330214G= | CA2194565508 | POLG,POLGARF | c.722C= (p.Pro241=) c.777C= (p.Ala259=) c.323C= (p.Pro108=) c.97C= c.379C= n.920C= c.*105C= (n.*105C=) | |
15 | g.89330214G>T | CA393767076 | POLG,POLGARF | c.722C>A (p.Pro241Gln) c.777C>A (p.Ala259=) c.323C>A (p.Pro108Gln) c.97C>A c.379C>A n.920C>A c.*105C>A (n.*105C>A) | |
15 | g.89330215G>A | CA393767080 | POLG,POLGARF | c.721C>T (p.Pro241Ser) c.776C>T (p.Ala259Val) c.322C>T (p.Pro108Ser) c.96C>T c.378C>T n.919C>T c.*104C>T (n.*104C>T) | |
15 | g.89330215G>C | CA393767083 | POLG,POLGARF | c.721C>G (p.Pro241Ala) c.776C>G (p.Ala259Gly) c.322C>G (p.Pro108Ala) c.96C>G c.378C>G n.919C>G c.*104C>G (n.*104C>G) | |
15 | g.89330215G>T | CA393767082 | POLG,POLGARF | c.721C>A (p.Pro241Thr) c.776C>A (p.Ala259Asp) c.322C>A (p.Pro108Thr) c.96C>A c.378C>A n.919C>A c.*104C>A (n.*104C>A) | |
15 | g.89330216C>A | CA492080656 | POLG,POLGARF | c.720G>T (p.Ser240=) c.775G>T (p.Ala259Ser) c.321G>T (p.Ser107=) c.95G>T c.377G>T n.918G>T c.*103G>T (n.*103G>T) | |
15 | g.89330216C= | CA2194565517 | POLG,POLGARF | c.720G= (p.Ser240=) c.775G= (p.Ala259=) c.321G= (p.Ser107=) c.95G= c.377G= n.918G= c.*103G= (n.*103G=) | |
15 | g.89330216C>G | CA492080657 | POLG,POLGARF | c.720G>C (p.Ser240=) c.775G>C (p.Ala259Pro) c.321G>C (p.Ser107=) c.95G>C c.377G>C n.918G>C c.*103G>C (n.*103G>C) | dbSNP |
15 | g.89330216C>T | CA492080658 | POLG,POLGARF | c.720G>A (p.Ser240=) c.775G>A (p.Ala259Thr) c.321G>A (p.Ser107=) c.95G>A c.377G>A n.918G>A c.*103G>A (n.*103G>A) | ClinVar gnomAD v4 |
15 | g.89330217G>A | CA316808 | POLG,POLGARF | c.719C>T (p.Ser240Leu) c.774C>T (p.Val258=) c.320C>T (p.Ser107Leu) c.94C>T c.376C>T n.917C>T c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89330217G>C | CA7725054 | POLG,POLGARF | c.719C>G (p.Ser240Trp) c.774C>G (p.Val258=) c.320C>G (p.Ser107Trp) c.94C>G c.376C>G n.917C>G c.*102C>G (n.*102C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330217G= | CA2194565527 | POLG,POLGARF | c.719C= (p.Ser240=) c.774C= (p.Val258=) c.320C= (p.Ser107=) c.94C= c.376C= n.917C= c.*102C= (n.*102C=) | |
15 | g.89330217G>T | CA393767087 | POLG,POLGARF | c.719C>A (p.Ser240Ter) c.774C>A (p.Val258=) c.320C>A (p.Ser107Ter) c.94C>A c.376C>A n.917C>A c.*102C>A (n.*102C>A) | COSMIC |
15 | g.89330218A>C | CA393767091 | POLG,POLGARF | c.718T>G (p.Ser240Ala) c.773T>G (p.Val258Gly) c.319T>G (p.Ser107Ala) c.93T>G c.375T>G n.916T>G c.*101T>G (n.*101T>G) | |
15 | g.89330218A>G | CA393767093 | POLG,POLGARF | c.718T>C (p.Ser240Pro) c.773T>C (p.Val258Ala) c.319T>C (p.Ser107Pro) c.93T>C c.375T>C n.916T>C c.*101T>C (n.*101T>C) | ClinVar dbSNP |
15 | g.89330218A>T | CA393767094 | POLG,POLGARF | c.718T>A (p.Ser240Thr) c.773T>A (p.Val258Asp) c.319T>A (p.Ser107Thr) c.93T>A c.375T>A n.916T>A c.*101T>A (n.*101T>A) | |
15 | g.89330219C>A | CA492080659 | POLG,POLGARF | c.717G>T (p.Leu239=) c.772G>T (p.Val258Phe) c.318G>T (p.Leu106=) c.92G>T c.374G>T n.915G>T c.*100G>T (n.*100G>T) | |
15 | g.89330219C= | CA2194565543 | POLG,POLGARF | c.717G= (p.Leu239=) c.772G= (p.Val258=) c.318G= (p.Leu106=) c.92G= c.374G= n.915G= c.*100G= (n.*100G=) | |
15 | g.89330219C>G | CA492080660 | POLG,POLGARF | c.717G>C (p.Leu239=) c.772G>C (p.Val258Leu) c.318G>C (p.Leu106=) c.92G>C c.374G>C n.915G>C c.*100G>C (n.*100G>C) | |
15 | g.89330219C>T | CA492080661 | POLG,POLGARF | c.717G>A (p.Leu239=) c.772G>A (p.Val258Ile) c.318G>A (p.Leu106=) c.92G>A c.374G>A n.915G>A c.*100G>A (n.*100G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89330220A>C | CA393767097 | POLG,POLGARF | c.716T>G (p.Leu239Arg) c.771T>G (p.Ala257=) c.317T>G (p.Leu106Arg) c.91T>G c.373T>G n.914T>G c.*99T>G (n.*99T>G) | |
15 | g.89330220A>G | CA393767099 | POLG,POLGARF | c.716T>C (p.Leu239Pro) c.771T>C (p.Ala257=) c.317T>C (p.Leu106Pro) c.91T>C c.373T>C n.914T>C c.*99T>C (n.*99T>C) | |
15 | g.89330220A>T | CA393767100 | POLG,POLGARF | c.716T>A (p.Leu239Gln) c.771T>A (p.Ala257=) c.317T>A (p.Leu106Gln) c.91T>A c.373T>A n.914T>A c.*99T>A (n.*99T>A) | |
15 | g.89330221G>A | CA492080662 | POLG,POLGARF | c.715C>T (p.Leu239=) c.770C>T (p.Ala257Val) c.316C>T (p.Leu106=) c.90C>T c.372C>T n.913C>T c.*98C>T (n.*98C>T) | dbSNP |
15 | g.89330221G>C | CA7725055 | POLG,POLGARF | c.715C>G (p.Leu239Val) c.770C>G (p.Ala257Gly) c.316C>G (p.Leu106Val) c.90C>G c.372C>G n.913C>G c.*98C>G (n.*98C>G) | dbSNP ExAC gnomAD v2 |
15 | g.89330221G= | CA2194565550 | POLG,POLGARF | c.715C= (p.Leu239=) c.770C= (p.Ala257=) c.316C= (p.Leu106=) c.90C= c.372C= n.913C= c.*98C= (n.*98C=) | |
15 | g.89330221G>T | CA393767103 | POLG,POLGARF | c.715C>A (p.Leu239Met) c.770C>A (p.Ala257Asp) c.316C>A (p.Leu106Met) c.90C>A c.372C>A n.913C>A c.*98C>A (n.*98C>A) | gnomAD v4 |
15 | g.89330222C>A | CA393767105 | POLG,POLGARF | c.714G>T (p.Gln238His) c.769G>T (p.Ala257Ser) c.315G>T (p.Gln105His) c.89G>T c.371G>T n.912G>T c.*97G>T (n.*97G>T) | |
15 | g.89330222C>G | CA393767106 | POLG,POLGARF | c.714G>C (p.Gln238His) c.769G>C (p.Ala257Pro) c.315G>C (p.Gln105His) c.89G>C c.371G>C n.912G>C c.*97G>C (n.*97G>C) | |
15 | g.89330222C>T | CA492080663 | POLG,POLGARF | c.714G>A (p.Gln238=) c.769G>A (p.Ala257Thr) c.315G>A (p.Gln105=) c.89G>A c.371G>A n.912G>A c.*97G>A (n.*97G>A) | |
15 | g.89330223T>A | CA393767112 | POLG,POLGARF | c.713A>T (p.Gln238Leu) c.768A>T (p.Pro256=) c.314A>T (p.Gln105Leu) c.88A>T c.370A>T n.911A>T c.*96A>T (n.*96A>T) | |
15 | g.89330223T>C | CA7725056 | POLG,POLGARF | c.713A>G (p.Gln238Arg) c.768A>G (p.Pro256=) c.314A>G (p.Gln105Arg) c.88A>G c.370A>G n.911A>G c.*96A>G (n.*96A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89330223T>G | CA393767109 | POLG,POLGARF | c.713A>C (p.Gln238Pro) c.768A>C (p.Pro256=) c.314A>C (p.Gln105Pro) c.88A>C c.370A>C n.911A>C c.*96A>C (n.*96A>C) | |
15 | g.89330223T= | CA2194565561 | POLG,POLGARF | c.713A= (p.Gln238=) c.768A= (p.Pro256=) c.314A= (p.Gln105=) c.88A= c.370A= n.911A= c.*96A= (n.*96A=) | |
15 | g.89330224G>A | CA393767114 | POLG,POLGARF | c.712C>T (p.Gln238Ter) c.767C>T (p.Pro256Leu) c.313C>T (p.Gln105Ter) c.87C>T c.369C>T n.910C>T c.*95C>T (n.*95C>T) | dbSNP gnomAD v2 |
15 | g.89330224G>C | CA393767116 | POLG,POLGARF | c.712C>G (p.Gln238Glu) c.767C>G (p.Pro256Arg) c.313C>G (p.Gln105Glu) c.87C>G c.369C>G n.910C>G c.*95C>G (n.*95C>G) | |
15 | g.89330224G= | CA2194565575 | POLG,POLGARF | c.712C= (p.Gln238=) c.767C= (p.Pro256=) c.313C= (p.Gln105=) c.87C= c.369C= n.910C= c.*95C= (n.*95C=) | |
15 | g.89330224G>T | CA393767118 | POLG,POLGARF | c.712C>A (p.Gln238Lys) c.767C>A (p.Pro256Gln) c.313C>A (p.Gln105Lys) c.87C>A c.369C>A n.910C>A c.*95C>A (n.*95C>A) | |
15 | g.89330225G>A | CA492080664 | POLG,POLGARF | c.711C>T (p.Ser237=) c.766C>T (p.Pro256Ser) c.312C>T (p.Ser104=) c.86C>T c.368C>T n.909C>T c.*94C>T (n.*94C>T) | |
15 | g.89330225G>C | CA274560287 | POLG,POLGARF | c.711C>G (p.Ser237Arg) c.766C>G (p.Pro256Ala) c.312C>G (p.Ser104Arg) c.86C>G c.368C>G n.909C>G c.*94C>G (n.*94C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330225G= | CA2194565580 | POLG,POLGARF | c.711C= (p.Ser237=) c.766C= (p.Pro256=) c.312C= (p.Ser104=) c.86C= c.368C= n.909C= c.*94C= (n.*94C=) | |
15 | g.89330225G>T | CA393767121 | POLG,POLGARF | c.711C>A (p.Ser237Arg) c.766C>A (p.Pro256Thr) c.312C>A (p.Ser104Arg) c.86C>A c.368C>A n.909C>A c.*94C>A (n.*94C>A) | dbSNP gnomAD v4 |
15 | g.89330226C>A | CA393767124 | POLG,POLGARF | c.710G>T (p.Ser237Ile) c.765G>T (p.Gln255His) c.311G>T (p.Ser104Ile) c.85G>T c.367G>T n.908G>T c.*93G>T (n.*93G>T) | dbSNP gnomAD v4 |
15 | g.89330226C= | CA2194565591 | POLG,POLGARF | c.710G= (p.Ser237=) c.765G= (p.Gln255=) c.311G= (p.Ser104=) c.85G= c.367G= n.908G= c.*93G= (n.*93G=) | |
15 | g.89330226C>G | CA393767125 | POLG,POLGARF | c.710G>C (p.Ser237Thr) c.765G>C (p.Gln255His) c.311G>C (p.Ser104Thr) c.85G>C c.367G>C n.908G>C c.*93G>C (n.*93G>C) | COSMIC |
15 | g.89330226C>T | CA393767127 | POLG,POLGARF | c.710G>A (p.Ser237Asn) c.765G>A (p.Gln255=) c.311G>A (p.Ser104Asn) c.85G>A c.367G>A n.908G>A c.*93G>A (n.*93G>A) | dbSNP gnomAD v4 |
15 | g.89330227T>A | CA393767129 | POLG,POLGARF | c.709A>T (p.Ser237Cys) c.764A>T (p.Gln255Leu) c.310A>T (p.Ser104Cys) c.84A>T c.366A>T n.907A>T c.*92A>T (n.*92A>T) | |
15 | g.89330227T>C | CA393767131 | POLG,POLGARF | c.709A>G (p.Ser237Gly) c.764A>G (p.Gln255Arg) c.310A>G (p.Ser104Gly) c.84A>G c.366A>G n.907A>G c.*92A>G (n.*92A>G) | |
15 | g.89330227T>G | CA393767133 | POLG,POLGARF | c.709A>C (p.Ser237Arg) c.764A>C (p.Gln255Pro) c.310A>C (p.Ser104Arg) c.84A>C c.366A>C n.907A>C c.*92A>C (n.*92A>C) | |
15 | g.89330228G>A | CA492080667 | POLG,POLGARF | c.708C>T (p.Thr236=) c.763C>T (p.Gln255Ter) c.309C>T (p.Thr103=) c.83C>T c.365C>T n.906C>T c.*91C>T (n.*91C>T) | |
15 | g.89330228G>C | CA492080666 | POLG,POLGARF | c.708C>G (p.Thr236=) c.763C>G (p.Gln255Glu) c.309C>G (p.Thr103=) c.83C>G c.365C>G n.906C>G c.*91C>G (n.*91C>G) | |
15 | g.89330228G>T | CA492080665 | POLG,POLGARF | c.708C>A (p.Thr236=) c.763C>A (p.Gln255Lys) c.309C>A (p.Thr103=) c.83C>A c.365C>A n.906C>A c.*91C>A (n.*91C>A) | |
15 | g.89330229G>A | CA393767139 | POLG,POLGARF | c.707C>T (p.Thr236Ile) c.762C>T (p.Asp254=) c.308C>T (p.Thr103Ile) c.82C>T c.364C>T n.905C>T c.*90C>T (n.*90C>T) | gnomAD v4 |
15 | g.89330229G>C | CA393767137 | POLG,POLGARF | c.707C>G (p.Thr236Ser) c.762C>G (p.Asp254Glu) c.308C>G (p.Thr103Ser) c.82C>G c.364C>G n.905C>G c.*90C>G (n.*90C>G) | |
15 | g.89330229G>T | CA393767135 | POLG,POLGARF | c.707C>A (p.Thr236Asn) c.762C>A (p.Asp254Glu) c.308C>A (p.Thr103Asn) c.82C>A c.364C>A n.905C>A c.*90C>A (n.*90C>A) | |
15 | g.89330230T>A | CA393767140 | POLG,POLGARF | c.706A>T (p.Thr236Ser) c.761A>T (p.Asp254Val) c.307A>T (p.Thr103Ser) c.81A>T c.363A>T n.904A>T c.*89A>T (n.*89A>T) | |
15 | g.89330230T>C | CA393767142 | POLG,POLGARF | c.706A>G (p.Thr236Ala) c.761A>G (p.Asp254Gly) c.307A>G (p.Thr103Ala) c.81A>G c.363A>G n.904A>G c.*89A>G (n.*89A>G) | dbSNP |
15 | g.89330230T>G | CA393767144 | POLG,POLGARF | c.706A>C (p.Thr236Pro) c.761A>C (p.Asp254Ala) c.307A>C (p.Thr103Pro) c.81A>C c.363A>C n.904A>C c.*89A>C (n.*89A>C) | |
15 | g.89330230T= | CA2194565596 | POLG,POLGARF | c.706A= (p.Thr236=) c.761A= (p.Asp254=) c.307A= (p.Thr103=) c.81A= c.363A= n.904A= c.*89A= (n.*89A=) | |
15 | g.89330231C>A | CA393767146 | POLG,POLGARF | c.705G>T (p.Trp235Cys) c.760G>T (p.Asp254Tyr) c.306G>T (p.Trp102Cys) c.80G>T c.362G>T n.903G>T c.*88G>T (n.*88G>T) | |
15 | g.89330231C= | CA2194565606 | POLG,POLGARF | c.705G= (p.Trp235=) c.760G= (p.Asp254=) c.306G= (p.Trp102=) c.80G= c.362G= n.903G= c.*88G= (n.*88G=) | |
15 | g.89330231C>G | CA393767148 | POLG,POLGARF | c.705G>C (p.Trp235Cys) c.760G>C (p.Asp254His) c.306G>C (p.Trp102Cys) c.80G>C c.362G>C n.903G>C c.*88G>C (n.*88G>C) | |
15 | g.89330231C>T | CA10602297 | POLG,POLGARF | c.705G>A (p.Trp235Ter) c.760G>A (p.Asp254Asn) c.306G>A (p.Trp102Ter) c.80G>A c.362G>A n.903G>A c.*88G>A (n.*88G>A) | ClinVar dbSNP gnomAD v4 |
15 | g.89330232C>A | CA393767150 | POLG,POLGARF | c.704G>T (p.Trp235Leu) c.759G>T (p.Leu253Phe) c.305G>T (p.Trp102Leu) c.79G>T c.361G>T n.902G>T c.*87G>T (n.*87G>T) | |
15 | g.89330232C>G | CA393767152 | POLG,POLGARF | c.704G>C (p.Trp235Ser) c.759G>C (p.Leu253Phe) c.305G>C (p.Trp102Ser) c.79G>C c.361G>C n.902G>C c.*87G>C (n.*87G>C) | |
15 | g.89330232C>T | CA393767153 | POLG,POLGARF | c.704G>A (p.Trp235Ter) c.759G>A (p.Leu253=) c.305G>A (p.Trp102Ter) c.79G>A c.361G>A n.902G>A c.*87G>A (n.*87G>A) | |
15 | g.89330233A>C | CA393767155 | POLG,POLGARF | c.703T>G (p.Trp235Gly) c.758T>G (p.Leu253Trp) c.304T>G (p.Trp102Gly) c.78T>G c.360T>G n.901T>G c.*86T>G (n.*86T>G) | |
15 | g.89330233A>G | CA393767157 | POLG,POLGARF | c.703T>C (p.Trp235Arg) c.758T>C (p.Leu253Ser) c.304T>C (p.Trp102Arg) c.78T>C c.360T>C n.901T>C c.*86T>C (n.*86T>C) | COSMIC |
15 | g.89330233A>T | CA393767158 | POLG,POLGARF | c.703T>A (p.Trp235Arg) c.758T>A (p.Leu253Ter) c.304T>A (p.Trp102Arg) c.78T>A c.360T>A n.901T>A c.*86T>A (n.*86T>A) | |
15 | g.89330234A>C | CA492080668 | POLG,POLGARF | c.702T>G (p.Ser234=) c.757T>G (p.Leu253Val) c.303T>G (p.Ser101=) c.77T>G c.359T>G n.900T>G c.*85T>G (n.*85T>G) | |
15 | g.89330234A>G | CA492080669 | POLG,POLGARF | c.702T>C (p.Ser234=) c.757T>C (p.Leu253=) c.303T>C (p.Ser101=) c.77T>C c.359T>C n.900T>C c.*85T>C (n.*85T>C) | ClinVar dbSNP |
15 | g.89330234A>T | CA492080670 | POLG,POLGARF | c.702T>A (p.Ser234=) c.757T>A (p.Leu253Met) c.303T>A (p.Ser101=) c.77T>A c.359T>A n.900T>A c.*85T>A (n.*85T>A) | |
15 | g.89330235G>A | CA393767164 | POLG,POLGARF | c.701C>T (p.Ser234Phe) c.756C>T (p.Leu252=) c.302C>T (p.Ser101Phe) c.76C>T c.358C>T n.899C>T c.*84C>T (n.*84C>T) | |
15 | g.89330235G>C | CA393767160 | POLG,POLGARF | c.701C>G (p.Ser234Cys) c.756C>G (p.Leu252=) c.302C>G (p.Ser101Cys) c.76C>G c.358C>G n.899C>G c.*84C>G (n.*84C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330235G= | CA2194565614 | POLG,POLGARF | c.701C= (p.Ser234=) c.756C= (p.Leu252=) c.302C= (p.Ser101=) c.76C= c.358C= n.899C= c.*84C= (n.*84C=) | |
15 | g.89330235G>T | CA393767162 | POLG,POLGARF | c.701C>A (p.Ser234Tyr) c.756C>A (p.Leu252=) c.302C>A (p.Ser101Tyr) c.76C>A c.358C>A n.899C>A c.*84C>A (n.*84C>A) | |
15 | g.89330236A>C | CA393767166 | POLG,POLGARF | c.700T>G (p.Ser234Ala) c.755T>G (p.Leu252Arg) c.301T>G (p.Ser101Ala) c.75T>G c.357T>G n.898T>G c.*83T>G (n.*83T>G) | |
15 | g.89330236A>G | CA393767175 | POLG,POLGARF | c.700T>C (p.Ser234Pro) c.755T>C (p.Leu252Pro) c.301T>C (p.Ser101Pro) c.75T>C c.357T>C n.898T>C c.*83T>C (n.*83T>C) | |
15 | g.89330236A>T | CA393767177 | POLG,POLGARF | c.700T>A (p.Ser234Thr) c.755T>A (p.Leu252His) c.301T>A (p.Ser101Thr) c.75T>A c.357T>A n.898T>A c.*83T>A (n.*83T>A) | |
15 | g.89330237G>A | CA492080671 | POLG,POLGARF | c.699C>T (p.Tyr233=) c.754C>T (p.Leu252Phe) c.300C>T (p.Tyr100=) c.74C>T c.356C>T n.897C>T c.*82C>T (n.*82C>T) | |
15 | g.89330237G>C | CA393767180 | POLG,POLGARF | c.699C>G (p.Tyr233Ter) c.754C>G (p.Leu252Val) c.300C>G (p.Tyr100Ter) c.74C>G c.356C>G n.897C>G c.*82C>G (n.*82C>G) | |
15 | g.89330237G= | CA2194565629 | POLG,POLGARF | c.699C= (p.Tyr233=) c.754C= (p.Leu252=) c.300C= (p.Tyr100=) c.74C= c.356C= n.897C= c.*82C= (n.*82C=) | |
15 | g.89330237G>T | CA393767181 | POLG,POLGARF | c.699C>A (p.Tyr233Ter) c.754C>A (p.Leu252Ile) c.300C>A (p.Tyr100Ter) c.74C>A c.356C>A n.897C>A c.*82C>A (n.*82C>A) | |
15 | g.89330238T>A | CA393767184 | POLG,POLGARF | c.698A>T (p.Tyr233Phe) c.753A>T (p.Leu251Phe) c.299A>T (p.Tyr100Phe) c.73A>T c.355A>T n.896A>T c.*81A>T (n.*81A>T) | |
15 | g.89330238T>C | CA393767186 | POLG,POLGARF | c.698A>G (p.Tyr233Cys) c.753A>G (p.Leu251=) c.299A>G (p.Tyr100Cys) c.73A>G c.355A>G n.896A>G c.*81A>G (n.*81A>G) | |
15 | g.89330238T>G | CA393767187 | POLG,POLGARF | c.698A>C (p.Tyr233Ser) c.753A>C (p.Leu251Phe) c.299A>C (p.Tyr100Ser) c.73A>C c.355A>C n.896A>C c.*81A>C (n.*81A>C) | |
15 | g.89330238dup | CA10602295 | POLG,POLGARF | c.698dup (p.Tyr233Ter) c.753dup (p.Leu252ThrfsTer?) c.299dup (p.Tyr100Ter) c.73dup c.355dup n.896dup c.*81dup (n.*81dup) | ClinVar dbSNP |
15 | g.89330239A>C | CA393767190 | POLG,POLGARF | c.697T>G (p.Tyr233Asp) c.752T>G (p.Leu251Ter) c.298T>G (p.Tyr100Asp) c.72T>G c.354T>G n.895T>G c.*80T>G (n.*80T>G) | |
15 | g.89330239A>G | CA393767191 | POLG,POLGARF | c.697T>C (p.Tyr233His) c.752T>C (p.Leu251Ser) c.298T>C (p.Tyr100His) c.72T>C c.354T>C n.895T>C c.*80T>C (n.*80T>C) | |
15 | g.89330239A>T | CA393767192 | POLG,POLGARF | c.697T>A (p.Tyr233Asn) c.752T>A (p.Leu251Ter) c.298T>A (p.Tyr100Asn) c.72T>A c.354T>A n.895T>A c.*80T>A (n.*80T>A) | |
15 | g.89330240A= | CA2194565634 | POLG,POLGARF | c.696T= (p.Arg232=) c.751T= (p.Leu251=) c.297T= (p.Arg99=) c.71T= c.353T= n.894T= c.*79T= (n.*79T=) | |
15 | g.89330240A>C | CA492080672 | POLG,POLGARF | c.696T>G (p.Arg232=) c.751T>G (p.Leu251Val) c.297T>G (p.Arg99=) c.71T>G c.353T>G n.894T>G c.*79T>G (n.*79T>G) | dbSNP |
15 | g.89330240A>G | CA492080674 | POLG,POLGARF | c.696T>C (p.Arg232=) c.751T>C (p.Leu251=) c.297T>C (p.Arg99=) c.71T>C c.353T>C n.894T>C c.*79T>C (n.*79T>C) | |
15 | g.89330240A>T | CA492080673 | POLG,POLGARF | c.696T>A (p.Arg232=) c.751T>A (p.Leu251Ile) c.297T>A (p.Arg99=) c.71T>A c.353T>A n.894T>A c.*79T>A (n.*79T>A) | |
15 | g.89330241C>A | CA393767195 | POLG,POLGARF | c.695G>T (p.Arg232Leu) c.750G>T (p.Ala250=) c.296G>T (p.Arg99Leu) c.70G>T c.352G>T n.893G>T c.*78G>T (n.*78G>T) | COSMIC |
15 | g.89330241C= | CA2194565642 | POLG,POLGARF | c.695G= (p.Arg232=) c.750G= (p.Ala250=) c.296G= (p.Arg99=) c.70G= c.352G= n.893G= c.*78G= (n.*78G=) | |
15 | g.89330241C>G | CA393767197 | POLG,POLGARF | c.695G>C (p.Arg232Pro) c.750G>C (p.Ala250=) c.296G>C (p.Arg99Pro) c.70G>C c.352G>C n.893G>C c.*78G>C (n.*78G>C) | ClinVar dbSNP |
15 | g.89330241C>T | CA341891 | POLG,POLGARF | c.695G>A (p.Arg232His) c.750G>A (p.Ala250=) c.296G>A (p.Arg99His) c.70G>A c.352G>A n.893G>A c.*78G>A (n.*78G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330242G>A | CA16607918 | POLG,POLGARF | c.694C>T (p.Arg232Cys) c.749C>T (p.Ala250Val) c.295C>T (p.Arg99Cys) c.69C>T c.351C>T n.892C>T c.*77C>T (n.*77C>T) | ClinVar dbSNP |
15 | g.89330242G>C | CA393767199 | POLG,POLGARF | c.694C>G (p.Arg232Gly) c.749C>G (p.Ala250Gly) c.295C>G (p.Arg99Gly) c.69C>G c.351C>G n.892C>G c.*77C>G (n.*77C>G) | COSMIC |
15 | g.89330242G= | CA2194565651 | POLG,POLGARF | c.694C= (p.Arg232=) c.749C= (p.Ala250=) c.295C= (p.Arg99=) c.69C= c.351C= n.892C= c.*77C= (n.*77C=) | |
15 | g.89330242G>T | CA7725057 | POLG,POLGARF | c.694C>A (p.Arg232Ser) c.749C>A (p.Ala250Glu) c.295C>A (p.Arg99Ser) c.69C>A c.351C>A n.892C>A c.*77C>A (n.*77C>A) | dbSNP ExAC gnomAD v2 |
15 | g.89330243C>A | CA393767203 | POLG,POLGARF | c.693G>T (p.Glu231Asp) c.748G>T (p.Ala250Ser) c.294G>T (p.Glu98Asp) c.68G>T c.350G>T n.891G>T c.*76G>T (n.*76G>T) | |
15 | g.89330243C>G | CA393767204 | POLG,POLGARF | c.693G>C (p.Glu231Asp) c.748G>C (p.Ala250Pro) c.294G>C (p.Glu98Asp) c.68G>C c.350G>C n.891G>C c.*76G>C (n.*76G>C) | |
15 | g.89330243C>T | CA492080675 | POLG,POLGARF | c.693G>A (p.Glu231=) c.748G>A (p.Ala250Thr) c.294G>A (p.Glu98=) c.68G>A c.350G>A n.891G>A c.*76G>A (n.*76G>A) | |
15 | g.89330244T>A | CA393767206 | POLG,POLGARF | c.692A>T (p.Glu231Val) c.747A>T (p.Arg249Ser) c.293A>T (p.Glu98Val) c.67A>T c.349A>T n.890A>T c.*75A>T (n.*75A>T) | |
15 | g.89330244T>C | CA7725058 | POLG,POLGARF | c.692A>G (p.Glu231Gly) c.747A>G (p.Arg249=) c.293A>G (p.Glu98Gly) c.67A>G c.349A>G n.890A>G c.*75A>G (n.*75A>G) | dbSNP ExAC |
15 | g.89330244T>G | CA393767210 | POLG,POLGARF | c.692A>C (p.Glu231Ala) c.747A>C (p.Arg249Ser) c.293A>C (p.Glu98Ala) c.67A>C c.349A>C n.890A>C c.*75A>C (n.*75A>C) | |
15 | g.89330244T= | CA2194565691 | POLG,POLGARF | c.692A= (p.Glu231=) c.747A= (p.Arg249=) c.293A= (p.Glu98=) c.67A= c.349A= n.890A= c.*75A= (n.*75A=) | |
15 | g.89330245C>A | CA393767211 | POLG,POLGARF | c.691G>T (p.Glu231Ter) c.746G>T (p.Arg249Ile) c.292G>T (p.Glu98Ter) c.66G>T c.348G>T n.889G>T c.*74G>T (n.*74G>T) | gnomAD v4 |
15 | g.89330245C>G | CA393767212 | POLG,POLGARF | c.691G>C (p.Glu231Gln) c.746G>C (p.Arg249Thr) c.292G>C (p.Glu98Gln) c.66G>C c.348G>C n.889G>C c.*74G>C (n.*74G>C) | |
15 | g.89330245C>T | CA393767215 | POLG,POLGARF | c.691G>A (p.Glu231Lys) c.746G>A (p.Arg249Lys) c.292G>A (p.Glu98Lys) c.66G>A c.348G>A n.889G>A c.*74G>A (n.*74G>A) | ClinVar |
15 | g.89330246T>A | CA393767217 | POLG,POLGARF | c.690A>T (p.Glu230Asp) c.745A>T (p.Arg249Ter) c.291A>T (p.Glu97Asp) c.65A>T c.347A>T n.888A>T c.*73A>T (n.*73A>T) | |
15 | g.89330246T>C | CA492080676 | POLG,POLGARF | c.690A>G (p.Glu230=) c.745A>G (p.Arg249Gly) c.291A>G (p.Glu97=) c.65A>G c.347A>G n.888A>G c.*73A>G (n.*73A>G) | |
15 | g.89330246T>G | CA393767218 | POLG,POLGARF | c.690A>C (p.Glu230Asp) c.745A>C (p.Arg249=) c.291A>C (p.Glu97Asp) c.65A>C c.347A>C n.888A>C c.*73A>C (n.*73A>C) | |
15 | g.89330247del | CA2731472726 | POLG,POLGARF | c.690del (p.Glu231SerfsTer?) c.745del (p.Arg249GlufsTer?) c.291del (p.Glu98SerfsTer?) c.65del c.347del n.888del c.*73del (n.*73del) | dbSNP |
15 | g.89330247T>A | CA393767223 | POLG,POLGARF | c.689A>T (p.Glu230Val) c.744A>T (p.Gly248=) c.290A>T (p.Glu97Val) c.64A>T c.346A>T n.887A>T c.*72A>T (n.*72A>T) | |
15 | g.89330247T>C | CA7725059 | POLG,POLGARF | c.689A>G (p.Glu230Gly) c.744A>G (p.Gly248=) c.290A>G (p.Glu97Gly) c.64A>G c.346A>G n.887A>G c.*72A>G (n.*72A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330247T>G | CA393767221 | POLG,POLGARF | c.689A>C (p.Glu230Ala) c.744A>C (p.Gly248=) c.290A>C (p.Glu97Ala) c.64A>C c.346A>C n.887A>C c.*72A>C (n.*72A>C) | |
15 | g.89330247T= | CA2194565700 | POLG,POLGARF | c.689A= (p.Glu230=) c.744A= (p.Gly248=) c.290A= (p.Glu97=) c.64A= c.346A= n.887A= c.*72A= (n.*72A=) | |
15 | g.89330248C>A | CA393767226 | POLG,POLGARF | c.688G>T (p.Glu230Ter) c.743G>T (p.Gly248Val) c.289G>T (p.Glu97Ter) c.63G>T c.345G>T n.886G>T c.*71G>T (n.*71G>T) | |
15 | g.89330248C>G | CA393767228 | POLG,POLGARF | c.688G>C (p.Glu230Gln) c.743G>C (p.Gly248Ala) c.289G>C (p.Glu97Gln) c.63G>C c.345G>C n.886G>C c.*71G>C (n.*71G>C) | |
15 | g.89330248C>T | CA393767230 | POLG,POLGARF | c.688G>A (p.Glu230Lys) c.743G>A (p.Gly248Glu) c.289G>A (p.Glu97Lys) c.63G>A c.345G>A n.886G>A c.*71G>A (n.*71G>A) | |
15 | g.89330249C>A | CA492080677 | POLG,POLGARF | c.687G>T (p.Val229=) c.742G>T (p.Gly248Ter) c.288G>T (p.Val96=) c.62G>T c.344G>T n.885G>T c.*70G>T (n.*70G>T) | |
15 | g.89330249C= | CA2194565709 | POLG,POLGARF | c.687G= (p.Val229=) c.742G= (p.Gly248=) c.288G= (p.Val96=) c.62G= c.344G= n.885G= c.*70G= (n.*70G=) | |
15 | g.89330249C>G | CA492080678 | POLG,POLGARF | c.687G>C (p.Val229=) c.742G>C (p.Gly248Arg) c.288G>C (p.Val96=) c.62G>C c.344G>C n.885G>C c.*70G>C (n.*70G>C) | |
15 | g.89330249C>T | CA7725060 | POLG,POLGARF | c.687G>A (p.Val229=) c.742G>A (p.Gly248Arg) c.288G>A (p.Val96=) c.62G>A c.344G>A n.885G>A c.*70G>A (n.*70G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330250A= | CA2194565717 | POLG,POLGARF | c.686T= (p.Val229=) c.741T= (p.Gly247=) c.287T= (p.Val96=) c.61T= c.343T= n.884T= c.*69T= (n.*69T=) | |
15 | g.89330250A>C | CA7725061 | POLG,POLGARF | c.686T>G (p.Val229Gly) c.741T>G (p.Gly247=) c.287T>G (p.Val96Gly) c.61T>G c.343T>G n.884T>G c.*69T>G (n.*69T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330250A>G | CA393767232 | POLG,POLGARF | c.686T>C (p.Val229Ala) c.741T>C (p.Gly247=) c.287T>C (p.Val96Ala) c.61T>C c.343T>C n.884T>C c.*69T>C (n.*69T>C) | gnomAD v4 |
15 | g.89330250A>T | CA393767233 | POLG,POLGARF | c.686T>A (p.Val229Glu) c.741T>A (p.Gly247=) c.287T>A (p.Val96Glu) c.61T>A c.343T>A n.884T>A c.*69T>A (n.*69T>A) | |
15 | g.89330251C>A | CA393767234 | POLG,POLGARF | c.685G>T (p.Val229Leu) c.740G>T (p.Gly247Val) c.286G>T (p.Val96Leu) c.60G>T c.342G>T n.883G>T c.*68G>T (n.*68G>T) | |
15 | g.89330251C>G | CA393767236 | POLG,POLGARF | c.685G>C (p.Val229Leu) c.740G>C (p.Gly247Ala) c.286G>C (p.Val96Leu) c.60G>C c.342G>C n.883G>C c.*68G>C (n.*68G>C) | |
15 | g.89330251C>T | CA393767238 | POLG,POLGARF | c.685G>A (p.Val229Met) c.740G>A (p.Gly247Asp) c.286G>A (p.Val96Met) c.60G>A c.342G>A n.883G>A c.*68G>A (n.*68G>A) | gnomAD v4 |
15 | g.89330252C>A | CA492080680 | POLG,POLGARF | c.684G>T (p.Leu228=) c.739G>T (p.Gly247Cys) c.285G>T (p.Leu95=) c.59G>T c.341G>T n.882G>T c.*67G>T (n.*67G>T) | gnomAD v4 |
15 | g.89330252C>G | CA492080681 | POLG,POLGARF | c.684G>C (p.Leu228=) c.739G>C (p.Gly247Arg) c.285G>C (p.Leu95=) c.59G>C c.341G>C n.882G>C c.*67G>C (n.*67G>C) | |
15 | g.89330252C>T | CA492080682 | POLG,POLGARF | c.684G>A (p.Leu228=) c.739G>A (p.Gly247Ser) c.285G>A (p.Leu95=) c.59G>A c.341G>A n.882G>A c.*67G>A (n.*67G>A) | ClinVar dbSNP |
15 | g.89330253A>C | CA393767240 | POLG,POLGARF | c.683T>G (p.Leu228Arg) c.738T>G (p.Ala246=) c.284T>G (p.Leu95Arg) c.58T>G c.340T>G n.881T>G c.*66T>G (n.*66T>G) | |
15 | g.89330253A>G | CA393767242 | POLG,POLGARF | c.683T>C (p.Leu228Pro) c.738T>C (p.Ala246=) c.284T>C (p.Leu95Pro) c.58T>C c.340T>C n.881T>C c.*66T>C (n.*66T>C) | |
15 | g.89330253A>T | CA393767244 | POLG,POLGARF | c.683T>A (p.Leu228Gln) c.738T>A (p.Ala246=) c.284T>A (p.Leu95Gln) c.58T>A c.340T>A n.881T>A c.*66T>A (n.*66T>A) | |
15 | g.89330254G>A | CA492080683 | POLG,POLGARF | c.682C>T (p.Leu228=) c.737C>T (p.Ala246Val) c.283C>T (p.Leu95=) c.57C>T c.339C>T n.880C>T c.*65C>T (n.*65C>T) | |
15 | g.89330254G>C | CA393767250 | POLG,POLGARF | c.682C>G (p.Leu228Val) c.737C>G (p.Ala246Gly) c.283C>G (p.Leu95Val) c.57C>G c.339C>G n.880C>G c.*65C>G (n.*65C>G) | |
15 | g.89330254G>T | CA393767249 | POLG,POLGARF | c.682C>A (p.Leu228Met) c.737C>A (p.Ala246Asp) c.283C>A (p.Leu95Met) c.57C>A c.339C>A n.880C>A c.*65C>A (n.*65C>A) | |
15 | g.89330255C>A | CA492080684 | POLG,POLGARF | c.681G>T (p.Arg227=) c.736G>T (p.Ala246Ser) c.282G>T (p.Arg94=) c.56G>T c.338G>T n.879G>T c.*64G>T (n.*64G>T) | COSMIC |
15 | g.89330255C>G | CA492080685 | POLG,POLGARF | c.681G>C (p.Arg227=) c.736G>C (p.Ala246Pro) c.282G>C (p.Arg94=) c.56G>C c.338G>C n.879G>C c.*64G>C (n.*64G>C) | |
15 | g.89330255C>T | CA492080686 | POLG,POLGARF | c.681G>A (p.Arg227=) c.736G>A (p.Ala246Thr) c.282G>A (p.Arg94=) c.56G>A c.338G>A n.879G>A c.*64G>A (n.*64G>A) | gnomAD v4 |
15 | g.89330256C>A | CA393767252 | POLG,POLGARF | c.680G>T (p.Arg227Leu) c.735G>T (p.Ala245=) c.281G>T (p.Arg94Leu) c.55G>T c.337G>T n.878G>T c.*63G>T (n.*63G>T) | |
15 | g.89330256C= | CA2194565722 | POLG,POLGARF | c.680G= (p.Arg227=) c.735G= (p.Ala245=) c.281G= (p.Arg94=) c.55G= c.337G= n.878G= c.*63G= (n.*63G=) | |
15 | g.89330256C>G | CA393767254 | POLG,POLGARF | c.680G>C (p.Arg227Pro) c.735G>C (p.Ala245=) c.281G>C (p.Arg94Pro) c.55G>C c.337G>C n.878G>C c.*63G>C (n.*63G>C) | COSMIC |
15 | g.89330256C>T | CA393767255 | POLG,POLGARF | c.680G>A (p.Arg227Gln) c.735G>A (p.Ala245=) c.281G>A (p.Arg94Gln) c.55G>A c.337G>A n.878G>A c.*63G>A (n.*63G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330257G>A | CA123154 | POLG,POLGARF | c.679C>T (p.Arg227Trp) c.734C>T (p.Ala245Val) c.280C>T (p.Arg94Trp) c.54C>T c.336C>T n.877C>T c.*62C>T (n.*62C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330257G>C | CA393767259 | POLG,POLGARF | c.679C>G (p.Arg227Gly) c.734C>G (p.Ala245Gly) c.280C>G (p.Arg94Gly) c.54C>G c.336C>G n.877C>G c.*62C>G (n.*62C>G) | |
15 | g.89330257G= | CA2194565727 | POLG,POLGARF | c.679C= (p.Arg227=) c.734C= (p.Ala245=) c.280C= (p.Arg94=) c.54C= c.336C= n.877C= c.*62C= (n.*62C=) | |
15 | g.89330257G>T | CA492080687 | POLG,POLGARF | c.679C>A (p.Arg227=) c.734C>A (p.Ala245Glu) c.280C>A (p.Arg94=) c.54C>A c.336C>A n.877C>A c.*62C>A (n.*62C>A) | gnomAD v4 |
15 | g.89330258C>A | CA393767261 | POLG,POLGARF | c.678G>T (p.Gln226His) c.733G>T (p.Ala245Ser) c.279G>T (p.Gln93His) c.53G>T c.335G>T n.876G>T c.*61G>T (n.*61G>T) | |
15 | g.89330258C= | CA2194565733 | POLG,POLGARF | c.678G= (p.Gln226=) c.733G= (p.Ala245=) c.279G= (p.Gln93=) c.53G= c.335G= n.876G= c.*61G= (n.*61G=) | |
15 | g.89330258C>G | CA316806 | POLG,POLGARF | c.678G>C (p.Gln226His) c.733G>C (p.Ala245Pro) c.279G>C (p.Gln93His) c.53G>C c.335G>C n.876G>C c.*61G>C (n.*61G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330258C>T | CA492080688 | POLG,POLGARF | c.678G>A (p.Gln226=) c.733G>A (p.Ala245Thr) c.279G>A (p.Gln93=) c.53G>A c.335G>A n.876G>A c.*61G>A (n.*61G>A) | |
15 | g.89330259T>A | CA393767266 | POLG,POLGARF | c.677A>T (p.Gln226Leu) c.732A>T (p.Pro244=) c.278A>T (p.Gln93Leu) c.52A>T c.334A>T n.875A>T c.*60A>T (n.*60A>T) | |
15 | g.89330259T>C | CA393767262 | POLG,POLGARF | c.677A>G (p.Gln226Arg) c.732A>G (p.Pro244=) c.278A>G (p.Gln93Arg) c.52A>G c.334A>G n.875A>G c.*60A>G (n.*60A>G) | |
15 | g.89330259T>G | CA393767264 | POLG,POLGARF | c.677A>C (p.Gln226Pro) c.732A>C (p.Pro244=) c.278A>C (p.Gln93Pro) c.52A>C c.334A>C n.875A>C c.*60A>C (n.*60A>C) | |
15 | g.89330260G>A | CA393767268 | POLG,POLGARF | c.676C>T (p.Gln226Ter) c.731C>T (p.Pro244Leu) c.277C>T (p.Gln93Ter) c.51C>T c.333C>T n.874C>T c.*59C>T (n.*59C>T) | |
15 | g.89330260G>C | CA393767273 | POLG,POLGARF | c.676C>G (p.Gln226Glu) c.731C>G (p.Pro244Arg) c.277C>G (p.Gln93Glu) c.51C>G c.333C>G n.874C>G c.*59C>G (n.*59C>G) | |
15 | g.89330260G>T | CA393767274 | POLG,POLGARF | c.676C>A (p.Gln226Lys) c.731C>A (p.Pro244Gln) c.277C>A (p.Gln93Lys) c.51C>A c.333C>A n.874C>A c.*59C>A (n.*59C>A) | |
15 | g.89330261G>A | CA492080689 | POLG,POLGARF | c.675C>T (p.Ser225=) c.730C>T (p.Pro244Ser) c.276C>T (p.Ser92=) c.50C>T c.332C>T n.873C>T c.*58C>T (n.*58C>T) | |
15 | g.89330261G>C | CA393767276 | POLG,POLGARF | c.675C>G (p.Ser225Arg) c.730C>G (p.Pro244Ala) c.276C>G (p.Ser92Arg) c.50C>G c.332C>G n.873C>G c.*58C>G (n.*58C>G) | |
15 | g.89330261G>T | CA393767278 | POLG,POLGARF | c.675C>A (p.Ser225Arg) c.730C>A (p.Pro244Thr) c.276C>A (p.Ser92Arg) c.50C>A c.332C>A n.873C>A c.*58C>A (n.*58C>A) | gnomAD v4 |
15 | g.89330262C>A | CA393767283 | POLG,POLGARF | c.674G>T (p.Ser225Ile) c.729G>T (p.Gln243His) c.275G>T (p.Ser92Ile) c.50-1G>T c.331G>T n.872G>T c.*57G>T (n.*57G>T) | |
15 | g.89330262C>G | CA393767287 | POLG,POLGARF | c.674G>C (p.Ser225Thr) c.729G>C (p.Gln243His) c.275G>C (p.Ser92Thr) c.50-1G>C c.331G>C n.872G>C c.*57G>C (n.*57G>C) | gnomAD v4 |
15 | g.89330262C>T | CA393767285 | POLG,POLGARF | c.674G>A (p.Ser225Asn) c.729G>A (p.Gln243=) c.275G>A (p.Ser92Asn) c.50-1G>A c.331G>A n.872G>A c.*57G>A (n.*57G>A) | gnomAD v4 |
15 | g.89330263T>A | CA393767289 | POLG,POLGARF | c.673A>T (p.Ser225Cys) c.728A>T (p.Gln243Leu) c.274A>T (p.Ser92Cys) c.50-2A>T c.330A>T n.871A>T c.*56A>T (n.*56A>T) | |
15 | g.89330263T>C | CA393767291 | POLG,POLGARF | c.673A>G (p.Ser225Gly) c.728A>G (p.Gln243Arg) c.274A>G (p.Ser92Gly) c.50-2A>G c.330A>G n.871A>G c.*56A>G (n.*56A>G) | ClinVar |
15 | g.89330263T>G | CA393767295 | POLG,POLGARF | c.673A>C (p.Ser225Arg) c.728A>C (p.Gln243Pro) c.274A>C (p.Ser92Arg) c.50-2A>C c.330A>C n.871A>C c.*56A>C (n.*56A>C) | |
15 | g.89330264G>A | CA492080690 | POLG,POLGARF | c.672C>T (p.Cys224=) c.727C>T (p.Gln243Ter) c.273C>T (p.Cys91=) c.50-3C>T c.329C>T n.870C>T c.*55C>T (n.*55C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330264G>C | CA393767301 | POLG,POLGARF | c.672C>G (p.Cys224Trp) c.727C>G (p.Gln243Glu) c.273C>G (p.Cys91Trp) c.50-3C>G c.329C>G n.870C>G c.*55C>G (n.*55C>G) | gnomAD v4 |
15 | g.89330264G= | CA2194565738 | POLG,POLGARF | c.672C= (p.Cys224=) c.727C= (p.Gln243=) c.273C= (p.Cys91=) c.50-3C= c.329C= n.870C= c.*55C= (n.*55C=) | |
15 | g.89330264G>T | CA393767303 | POLG,POLGARF | c.672C>A (p.Cys224Ter) c.727C>A (p.Gln243Lys) c.273C>A (p.Cys91Ter) c.50-3C>A c.329C>A n.870C>A c.*55C>A (n.*55C>A) | gnomAD v4 |
15 | g.89330265C>A | CA393767308 | POLG,POLGARF | c.671G>T (p.Cys224Phe) c.726G>T (p.Val242=) c.272G>T (p.Cys91Phe) c.50-4G>T c.328G>T n.869G>T c.*54G>T (n.*54G>T) | |
15 | g.89330265C>G | CA393767311 | POLG,POLGARF | c.671G>C (p.Cys224Ser) c.726G>C (p.Val242=) c.272G>C (p.Cys91Ser) c.50-4G>C c.328G>C n.869G>C c.*54G>C (n.*54G>C) | |
15 | g.89330265C>T | CA393767314 | POLG,POLGARF | c.671G>A (p.Cys224Tyr) c.726G>A (p.Val242=) c.272G>A (p.Cys91Tyr) c.50-4G>A c.328G>A n.869G>A c.*54G>A (n.*54G>A) | |
15 | g.89330266A= | CA2194565744 | POLG,POLGARF | c.670T= (p.Cys224=) c.725T= (p.Val242=) c.271T= (p.Cys91=) c.50-5T= c.327T= n.868T= c.*53T= (n.*53T=) | |
15 | g.89330266A>C | CA393767318 | POLG,POLGARF | c.670T>G (p.Cys224Gly) c.725T>G (p.Val242Gly) c.271T>G (p.Cys91Gly) c.50-5T>G c.327T>G n.868T>G c.*53T>G (n.*53T>G) | dbSNP |
15 | g.89330266A>G | CA393767321 | POLG,POLGARF | c.670T>C (p.Cys224Arg) c.725T>C (p.Val242Ala) c.271T>C (p.Cys91Arg) c.50-5T>C c.327T>C n.868T>C c.*53T>C (n.*53T>C) | |
15 | g.89330266A>T | CA393767323 | POLG,POLGARF | c.670T>A (p.Cys224Ser) c.725T>A (p.Val242Glu) c.271T>A (p.Cys91Ser) c.50-5T>A c.327T>A n.868T>A c.*53T>A (n.*53T>A) | |
15 | g.89330267C>A | CA393767332 | POLG,POLGARF | c.669G>T (p.Trp223Cys) c.724G>T (p.Val242Leu) c.270G>T (p.Trp90Cys) c.50-6G>T c.326G>T n.867G>T c.*52G>T (n.*52G>T) | |
15 | g.89330267C>G | CA393767331 | POLG,POLGARF | c.669G>C (p.Trp223Cys) c.724G>C (p.Val242Leu) c.270G>C (p.Trp90Cys) c.50-6G>C c.326G>C n.867G>C c.*52G>C (n.*52G>C) | |
15 | g.89330267C>T | CA393767329 | POLG,POLGARF | c.669G>A (p.Trp223Ter) c.724G>A (p.Val242Met) c.270G>A (p.Trp90Ter) c.50-6G>A c.326G>A n.867G>A c.*52G>A (n.*52G>A) | gnomAD v4 |
15 | g.89330268C>A | CA393767342 | POLG,POLGARF | c.668G>T (p.Trp223Leu) c.723G>T (p.Leu241=) c.269G>T (p.Trp90Leu) c.50-7G>T c.325G>T n.866G>T c.*51G>T (n.*51G>T) | |
15 | g.89330268C>G | CA393767347 | POLG,POLGARF | c.668G>C (p.Trp223Ser) c.723G>C (p.Leu241=) c.269G>C (p.Trp90Ser) c.50-7G>C c.325G>C n.866G>C c.*51G>C (n.*51G>C) | |
15 | g.89330268C>T | CA393767344 | POLG,POLGARF | c.668G>A (p.Trp223Ter) c.723G>A (p.Leu241=) c.269G>A (p.Trp90Ter) c.50-7G>A c.325G>A n.866G>A c.*51G>A (n.*51G>A) | |
15 | g.89330269A= | CA2194565747 | POLG,POLGARF | c.667T= (p.Trp223=) c.722T= (p.Leu241=) c.268T= (p.Trp90=) c.50-8T= c.324T= n.865T= c.*50T= (n.*50T=) | |
15 | g.89330269A>C | CA393767350 | POLG,POLGARF | c.667T>G (p.Trp223Gly) c.722T>G (p.Leu241Arg) c.268T>G (p.Trp90Gly) c.50-8T>G c.324T>G n.865T>G c.*50T>G (n.*50T>G) | dbSNP |
15 | g.89330269A>G | CA393767354 | POLG,POLGARF | c.667T>C (p.Trp223Arg) c.722T>C (p.Leu241Pro) c.268T>C (p.Trp90Arg) c.50-8T>C c.324T>C n.865T>C c.*50T>C (n.*50T>C) | |
15 | g.89330269A>T | CA393767352 | POLG,POLGARF | c.667T>A (p.Trp223Arg) c.722T>A (p.Leu241Gln) c.268T>A (p.Trp90Arg) c.50-8T>A c.324T>A n.865T>A c.*50T>A (n.*50T>A) | |
15 | g.89330270G>A | CA492080691 | POLG,POLGARF | c.666C>T (p.Ser222=) c.721C>T (p.Leu241=) c.267C>T (p.Ser89=) c.50-9C>T c.323C>T n.864C>T c.*49C>T (n.*49C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330270G>C | CA492080693 | POLG,POLGARF | c.666C>G (p.Ser222=) c.721C>G (p.Leu241Val) c.267C>G (p.Ser89=) c.50-9C>G c.323C>G n.864C>G c.*49C>G (n.*49C>G) | |
15 | g.89330270G= | CA2194565754 | POLG,POLGARF | c.666C= (p.Ser222=) c.721C= (p.Leu241=) c.267C= (p.Ser89=) c.50-9C= c.323C= n.864C= c.*49C= (n.*49C=) | |
15 | g.89330270G>T | CA492080692 | POLG,POLGARF | c.666C>A (p.Ser222=) c.721C>A (p.Leu241Met) c.267C>A (p.Ser89=) c.50-9C>A c.323C>A n.864C>A c.*49C>A (n.*49C>A) | |
15 | g.89330271G>A | CA393767358 | POLG,POLGARF | c.665C>T (p.Ser222Phe) c.720C>T (p.Phe240=) c.266C>T (p.Ser89Phe) c.50-10C>T c.322C>T n.863C>T c.*48C>T (n.*48C>T) | dbSNP |
15 | g.89330271G>C | CA393767359 | POLG,POLGARF | c.665C>G (p.Ser222Cys) c.720C>G (p.Phe240Leu) c.266C>G (p.Ser89Cys) c.50-10C>G c.322C>G n.863C>G c.*48C>G (n.*48C>G) | |
15 | g.89330271G= | CA2194565784 | POLG,POLGARF | c.665C= (p.Ser222=) c.720C= (p.Phe240=) c.266C= (p.Ser89=) c.50-10C= c.322C= n.863C= c.*48C= (n.*48C=) | |
15 | g.89330271G>T | CA393767363 | POLG,POLGARF | c.665C>A (p.Ser222Tyr) c.720C>A (p.Phe240Leu) c.266C>A (p.Ser89Tyr) c.50-10C>A c.322C>A n.863C>A c.*48C>A (n.*48C>A) | |
15 | g.89330272A>C | CA393767365 | POLG,POLGARF | c.664T>G (p.Ser222Ala) c.719T>G (p.Phe240Cys) c.265T>G (p.Ser89Ala) c.50-11T>G c.321T>G n.862T>G c.*47T>G (n.*47T>G) | |
15 | g.89330272A>G | CA393767368 | POLG,POLGARF | c.664T>C (p.Ser222Pro) c.719T>C (p.Phe240Ser) c.265T>C (p.Ser89Pro) c.50-11T>C c.321T>C n.862T>C c.*47T>C (n.*47T>C) | |
15 | g.89330272A>T | CA393767370 | POLG,POLGARF | c.664T>A (p.Ser222Thr) c.719T>A (p.Phe240Tyr) c.265T>A (p.Ser89Thr) c.50-11T>A c.321T>A n.862T>A c.*47T>A (n.*47T>A) | |
15 | g.89330273A= | CA2194565790 | POLG,POLGARF | c.663T= (p.Tyr221=) c.718T= (p.Phe240=) c.264T= (p.Tyr88=) c.50-12T= c.320T= n.861T= c.*46T= (n.*46T=) | |
15 | g.89330273A>C | CA393767373 | POLG,POLGARF | c.663T>G (p.Tyr221Ter) c.718T>G (p.Phe240Val) c.264T>G (p.Tyr88Ter) c.50-12T>G c.320T>G n.861T>G c.*46T>G (n.*46T>G) | |
15 | g.89330273A>G | CA492080694 | POLG,POLGARF | c.663T>C (p.Tyr221=) c.718T>C (p.Phe240Leu) c.264T>C (p.Tyr88=) c.50-12T>C c.320T>C n.861T>C c.*46T>C (n.*46T>C) | ClinVar dbSNP gnomAD v4 |
15 | g.89330273A>T | CA393767376 | POLG,POLGARF | c.663T>A (p.Tyr221Ter) c.718T>A (p.Phe240Ile) c.264T>A (p.Tyr88Ter) c.50-12T>A c.320T>A n.861T>A c.*46T>A (n.*46T>A) | |
15 | g.89330274T>A | CA393767378 | POLG,POLGARF | c.662A>T (p.Tyr221Phe) c.717A>T (p.Val239=) c.263A>T (p.Tyr88Phe) c.50-13A>T c.319A>T n.860A>T c.*45A>T (n.*45A>T) | |
15 | g.89330274T>C | CA393767380 | POLG,POLGARF | c.662A>G (p.Tyr221Cys) c.717A>G (p.Val239=) c.263A>G (p.Tyr88Cys) c.50-13A>G c.319A>G n.860A>G c.*45A>G (n.*45A>G) | |
15 | g.89330274T>G | CA393767382 | POLG,POLGARF | c.662A>C (p.Tyr221Ser) c.717A>C (p.Val239=) c.263A>C (p.Tyr88Ser) c.50-13A>C c.319A>C n.860A>C c.*45A>C (n.*45A>C) | |
15 | g.89330275A= | CA2194565792 | POLG,POLGARF | c.661T= (p.Tyr221=) c.716T= (p.Val239=) c.262T= (p.Tyr88=) c.50-14T= c.318T= n.859T= c.*44T= (n.*44T=) | |
15 | g.89330275A>C | CA393767390 | POLG,POLGARF | c.661T>G (p.Tyr221Asp) c.716T>G (p.Val239Gly) c.262T>G (p.Tyr88Asp) c.50-14T>G c.318T>G n.859T>G c.*44T>G (n.*44T>G) | dbSNP |
15 | g.89330275A>G | CA393767384 | POLG,POLGARF | c.661T>C (p.Tyr221His) c.716T>C (p.Val239Ala) c.262T>C (p.Tyr88His) c.50-14T>C c.318T>C n.859T>C c.*44T>C (n.*44T>C) | |
15 | g.89330275A>T | CA393767388 | POLG,POLGARF | c.661T>A (p.Tyr221Asn) c.716T>A (p.Val239Glu) c.262T>A (p.Tyr88Asn) c.50-14T>A c.318T>A n.859T>A c.*44T>A (n.*44T>A) | |
15 | g.89330276C>A | CA393767393 | POLG,POLGARF | c.660G>T (p.Trp220Cys) c.715G>T (p.Val239Leu) c.261G>T (p.Trp87Cys) c.50-15G>T c.317G>T n.858G>T c.*43G>T (n.*43G>T) | |
15 | g.89330276C= | CA2194565799 | POLG,POLGARF | c.660G= (p.Trp220=) c.715G= (p.Val239=) c.261G= (p.Trp87=) c.50-15G= c.317G= n.858G= c.*43G= (n.*43G=) | |
15 | g.89330276C>G | CA393767395 | POLG,POLGARF | c.660G>C (p.Trp220Cys) c.715G>C (p.Val239Leu) c.261G>C (p.Trp87Cys) c.50-15G>C c.317G>C n.858G>C c.*43G>C (n.*43G>C) | |
15 | g.89330276C>T | CA393767397 | POLG,POLGARF | c.660G>A (p.Trp220Ter) c.715G>A (p.Val239Ile) c.261G>A (p.Trp87Ter) c.50-15G>A c.317G>A n.858G>A c.*43G>A (n.*43G>A) | ClinVar dbSNP |
15 | g.89330277C>A | CA393767400 | POLG,POLGARF | c.660-1G>T (n.660-1G>T) c.715-1G>T (n.715-1G>T) c.261-1G>T (n.261-1G>T) c.50-16G>T c.317-1G>T n.858-1G>T c.*43-1G>T (n.*43-1G>T) | |
15 | g.89330277C>G | CA393767403 | POLG,POLGARF | c.660-1G>C (n.660-1G>C) c.715-1G>C (n.715-1G>C) c.261-1G>C (n.261-1G>C) c.50-16G>C c.317-1G>C n.858-1G>C c.*43-1G>C (n.*43-1G>C) | |
15 | g.89330277C>T | CA393767405 | POLG,POLGARF | c.660-1G>A (n.660-1G>A) c.715-1G>A (n.715-1G>A) c.261-1G>A (n.261-1G>A) c.50-16G>A c.317-1G>A n.858-1G>A c.*43-1G>A (n.*43-1G>A) | |
15 | g.89330278T>A | CA393767408 | POLG,POLGARF | c.660-2A>T (n.660-2A>T) c.715-2A>T (n.715-2A>T) c.261-2A>T (n.261-2A>T) c.50-17A>T c.317-2A>T n.858-2A>T c.*43-2A>T (n.*43-2A>T) | |
15 | g.89330278T>C | CA393767410 | POLG,POLGARF | c.660-2A>G (n.660-2A>G) c.715-2A>G (n.715-2A>G) c.261-2A>G (n.261-2A>G) c.50-17A>G c.317-2A>G n.858-2A>G c.*43-2A>G (n.*43-2A>G) | ClinVar dbSNP |
15 | g.89330278T>G | CA393767414 | POLG,POLGARF | c.660-2A>C (n.660-2A>C) c.715-2A>C (n.715-2A>C) c.261-2A>C (n.261-2A>C) c.50-17A>C c.317-2A>C n.858-2A>C c.*43-2A>C (n.*43-2A>C) | |
15 | g.89330281G>C | CA2575828957 | POLG,POLGARF | c.660-5C>G (n.660-5C>G) c.715-5C>G (n.715-5C>G) c.261-5C>G (n.261-5C>G) c.50-20C>G c.317-5C>G n.858-5C>G c.*43-5C>G (n.*43-5C>G) | gnomAD v4 |
15 | g.89330281G>T | CA2630256525 | POLG,POLGARF | c.660-5C>A (n.660-5C>A) c.715-5C>A (n.715-5C>A) c.261-5C>A (n.261-5C>A) c.50-20C>A c.317-5C>A n.858-5C>A c.*43-5C>A (n.*43-5C>A) | gnomAD v4 |
15 | g.89330283G>A | CA7725062 | POLG,POLGARF | c.660-7C>T (n.660-7C>T) c.715-7C>T (n.715-7C>T) c.261-7C>T (n.261-7C>T) c.50-22C>T c.317-7C>T n.858-7C>T c.*43-7C>T (n.*43-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330283G= | CA2194565807 | POLG,POLGARF | c.660-7C= (n.660-7C=) c.715-7C= (n.715-7C=) c.261-7C= (n.261-7C=) c.50-22C= c.317-7C= n.858-7C= c.*43-7C= (n.*43-7C=) | |
15 | g.89330283G>T | CA2630256526 | POLG,POLGARF | c.660-7C>A (n.660-7C>A) c.715-7C>A (n.715-7C>A) c.261-7C>A (n.261-7C>A) c.50-22C>A c.317-7C>A n.858-7C>A c.*43-7C>A (n.*43-7C>A) | gnomAD v4 |
15 | g.89330284A>T | CA2540007881 | POLG,POLGARF | c.660-8T>A (n.660-8T>A) c.715-8T>A (n.715-8T>A) c.261-8T>A (n.261-8T>A) c.50-23T>A c.317-8T>A n.858-8T>A c.*43-8T>A (n.*43-8T>A) | |
15 | g.89330285G>A | CA7725063 | POLG,POLGARF | c.660-9C>T (n.660-9C>T) c.715-9C>T (n.715-9C>T) c.261-9C>T (n.261-9C>T) c.50-24C>T c.317-9C>T n.858-9C>T c.*43-9C>T (n.*43-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330285G= | CA2194565813 | POLG,POLGARF | c.660-9C= (n.660-9C=) c.715-9C= (n.715-9C=) c.261-9C= (n.261-9C=) c.50-24C= c.317-9C= n.858-9C= c.*43-9C= (n.*43-9C=) | |
15 | g.89330285G>T | CA2630256528 | POLG,POLGARF | c.660-9C>A (n.660-9C>A) c.715-9C>A (n.715-9C>A) c.261-9C>A (n.261-9C>A) c.50-24C>A c.317-9C>A n.858-9C>A c.*43-9C>A (n.*43-9C>A) | gnomAD v4 |
15 | g.89330286G>A | CA619857694 | POLG,POLGARF | c.660-10C>T (n.660-10C>T) c.715-10C>T (n.715-10C>T) c.261-10C>T (n.261-10C>T) c.50-25C>T c.317-10C>T n.858-10C>T c.*43-10C>T (n.*43-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330286G= | CA2194565818 | POLG,POLGARF | c.660-10C= (n.660-10C=) c.715-10C= (n.715-10C=) c.261-10C= (n.261-10C=) c.50-25C= c.317-10C= n.858-10C= c.*43-10C= (n.*43-10C=) | |
15 | g.89330286_89330287insGCTCATGGTGTCCAGGAAACGCATGCGGGAACCC | CA7725064 | POLG,POLGARF | c.660-11_660-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC (n.660-11_660-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC) c.715-11_715-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC (n.715-11_715-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC) c.261-11_261-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC (n.261-11_261-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC) c.50-26_50-25insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC c.317-11_317-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC n.858-11_858-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC c.*43-11_*43-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC (n.*43-11_*43-10insGGGTTCCCGCATGCGTTTCCTGGACACCATGAGC) | dbSNP ExAC |
15 | g.89330287T>A | CA2630256529 | POLG,POLGARF | c.660-11A>T (n.660-11A>T) c.715-11A>T (n.715-11A>T) c.261-11A>T (n.261-11A>T) c.50-26A>T c.317-11A>T n.858-11A>T c.*43-11A>T (n.*43-11A>T) | gnomAD v4 |
15 | g.89330287T>C | CA292860 | POLG,POLGARF | c.660-11A>G (n.660-11A>G) c.715-11A>G (n.715-11A>G) c.261-11A>G (n.261-11A>G) c.50-26A>G c.317-11A>G n.858-11A>G c.*43-11A>G (n.*43-11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330287T>G | CA619857695 | POLG,POLGARF | c.660-11A>C (n.660-11A>C) c.715-11A>C (n.715-11A>C) c.261-11A>C (n.261-11A>C) c.50-26A>C c.317-11A>C n.858-11A>C c.*43-11A>C (n.*43-11A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330287T= | CA2194565824 | POLG,POLGARF | c.660-11A= (n.660-11A=) c.715-11A= (n.715-11A=) c.261-11A= (n.261-11A=) c.50-26A= c.317-11A= n.858-11A= c.*43-11A= (n.*43-11A=) | |
15 | g.89330288G>C | CA2630256531 | POLG,POLGARF | c.660-12C>G (n.660-12C>G) c.715-12C>G (n.715-12C>G) c.261-12C>G (n.261-12C>G) c.50-27C>G c.317-12C>G n.858-12C>G c.*43-12C>G (n.*43-12C>G) | ClinVar gnomAD v4 |
15 | g.89330288G>T | CA2630256532 | POLG,POLGARF | c.660-12C>A (n.660-12C>A) c.715-12C>A (n.715-12C>A) c.261-12C>A (n.261-12C>A) c.50-27C>A c.317-12C>A n.858-12C>A c.*43-12C>A (n.*43-12C>A) | gnomAD v4 |
15 | g.89330291_89330292del | CA2630256530 | POLG,POLGARF | c.660-13_660-12del (n.660-13_660-12del) c.715-13_715-12del (n.715-13_715-12del) c.261-13_261-12del (n.261-13_261-12del) c.50-28_50-27del c.317-13_317-12del n.858-13_858-12del c.*43-13_*43-12del (n.*43-13_*43-12del) | gnomAD v4 |
15 | g.89330290G>A | CA2529132019 | POLG,POLGARF | c.660-14C>T (n.660-14C>T) c.715-14C>T (n.715-14C>T) c.261-14C>T (n.261-14C>T) c.50-29C>T c.317-14C>T n.858-14C>T c.*43-14C>T (n.*43-14C>T) | |
15 | g.89330292G>A | CA274560400 | POLG,POLGARF | c.660-16C>T (n.660-16C>T) c.715-16C>T (n.715-16C>T) c.261-16C>T (n.261-16C>T) c.50-31C>T c.317-16C>T n.858-16C>T c.*43-16C>T (n.*43-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330292G= | CA2194565829 | POLG,POLGARF | c.660-16C= (n.660-16C=) c.715-16C= (n.715-16C=) c.261-16C= (n.261-16C=) c.50-31C= c.317-16C= n.858-16C= c.*43-16C= (n.*43-16C=) | |
15 | g.89330292G>T | CA2630256533 | POLG,POLGARF | c.660-16C>A (n.660-16C>A) c.715-16C>A (n.715-16C>A) c.261-16C>A (n.261-16C>A) c.50-31C>A c.317-16C>A n.858-16C>A c.*43-16C>A (n.*43-16C>A) | gnomAD v4 |
15 | g.89330293G>A | CA2630256534 | POLG,POLGARF | c.660-17C>T (n.660-17C>T) c.715-17C>T (n.715-17C>T) c.261-17C>T (n.261-17C>T) c.50-32C>T c.317-17C>T n.858-17C>T c.*43-17C>T (n.*43-17C>T) | gnomAD v4 |
15 | g.89330293G= | CA2194565836 | POLG,POLGARF | c.660-17C= (n.660-17C=) c.715-17C= (n.715-17C=) c.261-17C= (n.261-17C=) c.50-32C= c.317-17C= n.858-17C= c.*43-17C= (n.*43-17C=) | |
15 | g.89330293G>T | CA619857696 | POLG,POLGARF | c.660-17C>A (n.660-17C>A) c.715-17C>A (n.715-17C>A) c.261-17C>A (n.261-17C>A) c.50-32C>A c.317-17C>A n.858-17C>A c.*43-17C>A (n.*43-17C>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330294C= | CA2194565845 | POLG,POLGARF | c.660-18G= (n.660-18G=) c.715-18G= (n.715-18G=) c.261-18G= (n.261-18G=) c.50-33G= c.317-18G= n.858-18G= c.*43-18G= (n.*43-18G=) | |
15 | g.89330294C>G | CA2630256535 | POLG,POLGARF | c.660-18G>C (n.660-18G>C) c.715-18G>C (n.715-18G>C) c.261-18G>C (n.261-18G>C) c.50-33G>C c.317-18G>C n.858-18G>C c.*43-18G>C (n.*43-18G>C) | gnomAD v4 |
15 | g.89330294C>T | CA619857697 | POLG,POLGARF | c.660-18G>A (n.660-18G>A) c.715-18G>A (n.715-18G>A) c.261-18G>A (n.261-18G>A) c.50-33G>A c.317-18G>A n.858-18G>A c.*43-18G>A (n.*43-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330296G>A | CA619857698 | POLG,POLGARF | c.660-20C>T (n.660-20C>T) c.715-20C>T (n.715-20C>T) c.261-20C>T (n.261-20C>T) c.50-35C>T c.317-20C>T n.858-20C>T c.*43-20C>T (n.*43-20C>T) | dbSNP gnomAD v2 |
15 | g.89330296G= | CA2194565848 | POLG,POLGARF | c.660-20C= (n.660-20C=) c.715-20C= (n.715-20C=) c.261-20C= (n.261-20C=) c.50-35C= c.317-20C= n.858-20C= c.*43-20C= (n.*43-20C=) | |
15 | g.89330296G>T | CA2630256536 | POLG,POLGARF | c.660-20C>A (n.660-20C>A) c.715-20C>A (n.715-20C>A) c.261-20C>A (n.261-20C>A) c.50-35C>A c.317-20C>A n.858-20C>A c.*43-20C>A (n.*43-20C>A) | gnomAD v4 |
15 | g.89330297G>A | CA274560402 | POLG,POLGARF | c.660-21C>T (n.660-21C>T) c.715-21C>T (n.715-21C>T) c.261-21C>T (n.261-21C>T) c.50-36C>T c.317-21C>T n.858-21C>T c.*43-21C>T (n.*43-21C>T) | dbSNP gnomAD v4 |
15 | g.89330297G= | CA2194565852 | POLG,POLGARF | c.660-21C= (n.660-21C=) c.715-21C= (n.715-21C=) c.261-21C= (n.261-21C=) c.50-36C= c.317-21C= n.858-21C= c.*43-21C= (n.*43-21C=) | |
15 | g.89330297G>T | CA2630256537 | POLG,POLGARF | c.660-21C>A (n.660-21C>A) c.715-21C>A (n.715-21C>A) c.261-21C>A (n.261-21C>A) c.50-36C>A c.317-21C>A n.858-21C>A c.*43-21C>A (n.*43-21C>A) | gnomAD v4 |
15 | g.89330298C>A | CA7725065 | POLG,POLGARF | c.660-22G>T (n.660-22G>T) c.715-22G>T (n.715-22G>T) c.261-22G>T (n.261-22G>T) c.50-37G>T c.317-22G>T n.858-22G>T c.*43-22G>T (n.*43-22G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330298C= | CA2194565858 | POLG,POLGARF | c.660-22G= (n.660-22G=) c.715-22G= (n.715-22G=) c.261-22G= (n.261-22G=) c.50-37G= c.317-22G= n.858-22G= c.*43-22G= (n.*43-22G=) | |
15 | g.89330298C>G | CA2194565863 | POLG,POLGARF | c.660-22G>C (n.660-22G>C) c.715-22G>C (n.715-22G>C) c.261-22G>C (n.261-22G>C) c.50-37G>C c.317-22G>C n.858-22G>C c.*43-22G>C (n.*43-22G>C) | dbSNP gnomAD v4 |
15 | g.89330298C>T | CA2575828958 | POLG,POLGARF | c.660-22G>A (n.660-22G>A) c.715-22G>A (n.715-22G>A) c.261-22G>A (n.261-22G>A) c.50-37G>A c.317-22G>A n.858-22G>A c.*43-22G>A (n.*43-22G>A) | gnomAD v4 |
15 | g.89330298dup | CA2630256538 | POLG,POLGARF | c.660-22dup (n.660-22dup) c.715-22dup (n.715-22dup) c.261-22dup (n.261-22dup) c.50-37dup c.317-22dup n.858-22dup c.*43-22dup (n.*43-22dup) | gnomAD v4 |
15 | g.89330299A>T | CA2630256539 | POLG,POLGARF | c.660-23T>A (n.660-23T>A) c.715-23T>A (n.715-23T>A) c.261-23T>A (n.261-23T>A) c.50-38T>A c.317-23T>A n.858-23T>A c.*43-23T>A (n.*43-23T>A) | gnomAD v4 |
15 | g.89330300G>A | CA2630256540 | POLG,POLGARF | c.660-24C>T (n.660-24C>T) c.715-24C>T (n.715-24C>T) c.261-24C>T (n.261-24C>T) c.50-39C>T c.317-24C>T n.858-24C>T c.*43-24C>T (n.*43-24C>T) | gnomAD v4 |
15 | g.89330300G>T | CA2630256541 | POLG,POLGARF | c.660-24C>A (n.660-24C>A) c.715-24C>A (n.715-24C>A) c.261-24C>A (n.261-24C>A) c.50-39C>A c.317-24C>A n.858-24C>A c.*43-24C>A (n.*43-24C>A) | gnomAD v4 |
15 | g.89330301G>A | CA2630256542 | POLG,POLGARF | c.660-25C>T (n.660-25C>T) c.715-25C>T (n.715-25C>T) c.261-25C>T (n.261-25C>T) c.50-40C>T c.317-25C>T n.858-25C>T c.*43-25C>T (n.*43-25C>T) | gnomAD v4 |
15 | g.89330301G>C | CA2630256543 | POLG,POLGARF | c.660-25C>G (n.660-25C>G) c.715-25C>G (n.715-25C>G) c.261-25C>G (n.261-25C>G) c.50-40C>G c.317-25C>G n.858-25C>G c.*43-25C>G (n.*43-25C>G) | gnomAD v4 |
15 | g.89330301G>T | CA2630256544 | POLG,POLGARF | c.660-25C>A (n.660-25C>A) c.715-25C>A (n.715-25C>A) c.261-25C>A (n.261-25C>A) c.50-40C>A c.317-25C>A n.858-25C>A c.*43-25C>A (n.*43-25C>A) | gnomAD v4 |
15 | g.89330302T>A | CA2630256545 | POLG,POLGARF | c.660-26A>T (n.660-26A>T) c.715-26A>T (n.715-26A>T) c.261-26A>T (n.261-26A>T) c.50-41A>T c.317-26A>T n.858-26A>T c.*43-26A>T (n.*43-26A>T) | gnomAD v4 |
15 | g.89330302T>G | CA2194565869 | POLG,POLGARF | c.660-26A>C (n.660-26A>C) c.715-26A>C (n.715-26A>C) c.261-26A>C (n.261-26A>C) c.50-41A>C c.317-26A>C n.858-26A>C c.*43-26A>C (n.*43-26A>C) | dbSNP |
15 | g.89330302T= | CA2194565868 | POLG,POLGARF | c.660-26A= (n.660-26A=) c.715-26A= (n.715-26A=) c.261-26A= (n.261-26A=) c.50-41A= c.317-26A= n.858-26A= c.*43-26A= (n.*43-26A=) | |
15 | g.89330302_89330303insAGA | CA2805168217 | POLG,POLGARF | c.660-27_660-26insTCT (n.660-27_660-26insTCT) c.715-27_715-26insTCT (n.715-27_715-26insTCT) c.261-27_261-26insTCT (n.261-27_261-26insTCT) c.50-42_50-41insTCT c.317-27_317-26insTCT n.858-27_858-26insTCT c.*43-27_*43-26insTCT (n.*43-27_*43-26insTCT) | |
15 | g.89330303T>C | CA2630256546 | POLG,POLGARF | c.660-27A>G (n.660-27A>G) c.715-27A>G (n.715-27A>G) c.261-27A>G (n.261-27A>G) c.50-42A>G c.317-27A>G n.858-27A>G c.*43-27A>G (n.*43-27A>G) | gnomAD v4 |
15 | g.89330304C>A | CA2630256547 | POLG,POLGARF | c.660-28G>T (n.660-28G>T) c.715-28G>T (n.715-28G>T) c.261-28G>T (n.261-28G>T) c.50-43G>T c.317-28G>T n.858-28G>T c.*43-28G>T (n.*43-28G>T) | gnomAD v4 |
15 | g.89330304C>T | CA2630256548 | POLG,POLGARF | c.660-28G>A (n.660-28G>A) c.715-28G>A (n.715-28G>A) c.261-28G>A (n.261-28G>A) c.50-43G>A c.317-28G>A n.858-28G>A c.*43-28G>A (n.*43-28G>A) | gnomAD v4 |
15 | g.89330305A= | CA2194565879 | POLG,POLGARF | c.660-29T= (n.660-29T=) c.715-29T= (n.715-29T=) c.261-29T= (n.261-29T=) c.50-44T= c.317-29T= n.858-29T= c.*43-29T= (n.*43-29T=) | |
15 | g.89330305A>C | CA7725067 | POLG,POLGARF | c.660-29T>G (n.660-29T>G) c.715-29T>G (n.715-29T>G) c.261-29T>G (n.261-29T>G) c.50-44T>G c.317-29T>G n.858-29T>G c.*43-29T>G (n.*43-29T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330305A>G | CA7725066 | POLG,POLGARF | c.660-29T>C (n.660-29T>C) c.715-29T>C (n.715-29T>C) c.261-29T>C (n.261-29T>C) c.50-44T>C c.317-29T>C n.858-29T>C c.*43-29T>C (n.*43-29T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89330306C= | CA2194565881 | POLG,POLGARF | c.660-30G= (n.660-30G=) c.715-30G= (n.715-30G=) c.261-30G= (n.261-30G=) c.50-45G= c.317-30G= n.858-30G= c.*43-30G= (n.*43-30G=) | |
15 | g.89330306C>T | CA619857699 | POLG,POLGARF | c.660-30G>A (n.660-30G>A) c.715-30G>A (n.715-30G>A) c.261-30G>A (n.261-30G>A) c.50-45G>A c.317-30G>A n.858-30G>A c.*43-30G>A (n.*43-30G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330307C>A | CA2630256549 | POLG,POLGARF | c.660-31G>T (n.660-31G>T) c.715-31G>T (n.715-31G>T) c.261-31G>T (n.261-31G>T) c.50-46G>T c.317-31G>T n.858-31G>T c.*43-31G>T (n.*43-31G>T) | gnomAD v4 |
15 | g.89330307C= | CA2194565883 | POLG,POLGARF | c.660-31G= (n.660-31G=) c.715-31G= (n.715-31G=) c.261-31G= (n.261-31G=) c.50-46G= c.317-31G= n.858-31G= c.*43-31G= (n.*43-31G=) | |
15 | g.89330307C>G | CA972592339 | POLG,POLGARF | c.660-31G>C (n.660-31G>C) c.715-31G>C (n.715-31G>C) c.261-31G>C (n.261-31G>C) c.50-46G>C c.317-31G>C n.858-31G>C c.*43-31G>C (n.*43-31G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89330308A= | CA2194565884 | POLG,POLGARF | c.660-32T= (n.660-32T=) c.715-32T= (n.715-32T=) c.261-32T= (n.261-32T=) c.50-47T= c.317-32T= n.858-32T= c.*43-32T= (n.*43-32T=) | |
15 | g.89330308A>C | CA2194565885 | POLG,POLGARF | c.660-32T>G (n.660-32T>G) c.715-32T>G (n.715-32T>G) c.261-32T>G (n.261-32T>G) c.50-47T>G c.317-32T>G n.858-32T>G c.*43-32T>G (n.*43-32T>G) | dbSNP |
15 | g.89330309T>C | CA2630256550 | POLG,POLGARF | c.660-33A>G (n.660-33A>G) c.715-33A>G (n.715-33A>G) c.261-33A>G (n.261-33A>G) c.50-48A>G c.317-33A>G n.858-33A>G c.*43-33A>G (n.*43-33A>G) | gnomAD v4 |
15 | g.89330309T>G | CA2194565888 | POLG,POLGARF | c.660-33A>C (n.660-33A>C) c.715-33A>C (n.715-33A>C) c.261-33A>C (n.261-33A>C) c.50-48A>C c.317-33A>C n.858-33A>C c.*43-33A>C (n.*43-33A>C) | dbSNP |
15 | g.89330309T= | CA2194565887 | POLG,POLGARF | c.660-33A= (n.660-33A=) c.715-33A= (n.715-33A=) c.261-33A= (n.261-33A=) c.50-48A= c.317-33A= n.858-33A= c.*43-33A= (n.*43-33A=) | |
15 | g.89330310G>T | CA2630256551 | POLG,POLGARF | c.660-34C>A (n.660-34C>A) c.715-34C>A (n.715-34C>A) c.261-34C>A (n.261-34C>A) c.50-49C>A c.317-34C>A n.858-34C>A c.*43-34C>A (n.*43-34C>A) | gnomAD v4 |
15 | g.89330310_89330311del | CA2805168218 | POLG,POLGARF | c.660-35_660-34del (n.660-35_660-34del) c.715-35_715-34del (n.715-35_715-34del) c.261-35_261-34del (n.261-35_261-34del) c.50-50_50-49del c.317-35_317-34del n.858-35_858-34del c.*43-35_*43-34del (n.*43-35_*43-34del) | |
15 | g.89330311_89330313del | CA2805168219 | POLG,POLGARF | c.660-36_660-34del (n.660-36_660-34del) c.715-36_715-34del (n.715-36_715-34del) c.261-36_261-34del (n.261-36_261-34del) c.50-51_50-49del c.317-36_317-34del n.858-36_858-34del c.*43-36_*43-34del (n.*43-36_*43-34del) | |
15 | g.89330311G>A | CA2575828959 | POLG,POLGARF | c.660-35C>T (n.660-35C>T) c.715-35C>T (n.715-35C>T) c.261-35C>T (n.261-35C>T) c.50-50C>T c.317-35C>T n.858-35C>T c.*43-35C>T (n.*43-35C>T) | |
15 | g.89330311G>C | CA7725068 | POLG,POLGARF | c.660-35C>G (n.660-35C>G) c.715-35C>G (n.715-35C>G) c.261-35C>G (n.261-35C>G) c.50-50C>G c.317-35C>G n.858-35C>G c.*43-35C>G (n.*43-35C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89330311G= | CA2194565897 | POLG,POLGARF | c.660-35C= (n.660-35C=) c.715-35C= (n.715-35C=) c.261-35C= (n.261-35C=) c.50-50C= c.317-35C= n.858-35C= c.*43-35C= (n.*43-35C=) | |
15 | g.89330311G>T | CA2630256552 | POLG,POLGARF | c.660-35C>A (n.660-35C>A) c.715-35C>A (n.715-35C>A) c.261-35C>A (n.261-35C>A) c.50-50C>A c.317-35C>A n.858-35C>A c.*43-35C>A (n.*43-35C>A) | gnomAD v4 |
15 | g.89330313G>A | CA619857700 | POLG,POLGARF | c.660-37C>T (n.660-37C>T) c.715-37C>T (n.715-37C>T) c.261-37C>T (n.261-37C>T) c.50-52C>T c.317-37C>T n.858-37C>T c.*43-37C>T (n.*43-37C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89330313G= | CA2194565900 | POLG,POLGARF | c.660-37C= (n.660-37C=) c.715-37C= (n.715-37C=) c.261-37C= (n.261-37C=) c.50-52C= c.317-37C= n.858-37C= c.*43-37C= (n.*43-37C=) | |
15 | g.89330313G>T | CA2575828960 | POLG,POLGARF | c.660-37C>A (n.660-37C>A) c.715-37C>A (n.715-37C>A) c.261-37C>A (n.261-37C>A) c.50-52C>A c.317-37C>A n.858-37C>A c.*43-37C>A (n.*43-37C>A) | gnomAD v4 |