Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89333273T>A | CA393771367 | POLG,POLGARF | c.482A>T (p.Gln161Leu) c.537A>T (p.Pro179=) c.83A>T (p.Gln28Leu) c.139A>T n.680A>T | |
15 | g.89333273T>C | CA393771372 | POLG,POLGARF | c.482A>G (p.Gln161Arg) c.537A>G (p.Pro179=) c.83A>G (p.Gln28Arg) c.139A>G n.680A>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333273T>G | CA393771368 | POLG,POLGARF | c.482A>C (p.Gln161Pro) c.537A>C (p.Pro179=) c.83A>C (p.Gln28Pro) c.139A>C n.680A>C | |
15 | g.89333274G>A | CA393771375 | POLG,POLGARF | c.481C>T (p.Gln161Ter) c.536C>T (p.Pro179Leu) c.82C>T (p.Gln28Ter) c.138C>T n.679C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333274G>C | CA393771377 | POLG,POLGARF | c.481C>G (p.Gln161Glu) c.536C>G (p.Pro179Arg) c.82C>G (p.Gln28Glu) c.138C>G n.679C>G | |
15 | g.89333274G= | CA2194571989 | POLG,POLGARF | c.481C= (p.Gln161=) c.536C= (p.Pro179=) c.82C= (p.Gln28=) c.138C= n.679C= | |
15 | g.89333274G>T | CA393771379 | POLG,POLGARF | c.481C>A (p.Gln161Lys) c.536C>A (p.Pro179Gln) c.82C>A (p.Gln28Lys) c.138C>A n.679C>A | |
15 | g.89333275G>A | CA492289934 | POLG,POLGARF | c.480C>T (p.Ala160=) c.535C>T (p.Pro179Ser) c.81C>T (p.Ala27=) c.137C>T n.678C>T | dbSNP |
15 | g.89333275G>C | CA492289935 | POLG,POLGARF | c.480C>G (p.Ala160=) c.535C>G (p.Pro179Ala) c.81C>G (p.Ala27=) c.137C>G n.678C>G | |
15 | g.89333275G= | CA2194572000 | POLG,POLGARF | c.480C= (p.Ala160=) c.535C= (p.Pro179=) c.81C= (p.Ala27=) c.137C= n.678C= | |
15 | g.89333275G>T | CA492289936 | POLG,POLGARF | c.480C>A (p.Ala160=) c.535C>A (p.Pro179Thr) c.81C>A (p.Ala27=) c.137C>A n.678C>A | gnomAD v4 |
15 | g.89333276G>A | CA393771382 | POLG,POLGARF | c.479C>T (p.Ala160Val) c.534C>T (p.Gly178=) c.80C>T (p.Ala27Val) c.136C>T n.677C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333276G>C | CA393771386 | POLG,POLGARF | c.479C>G (p.Ala160Gly) c.534C>G (p.Gly178=) c.80C>G (p.Ala27Gly) c.136C>G n.677C>G | |
15 | g.89333276G= | CA2194572009 | POLG,POLGARF | c.479C= (p.Ala160=) c.534C= (p.Gly178=) c.80C= (p.Ala27=) c.136C= n.677C= | |
15 | g.89333276G>T | CA393771388 | POLG,POLGARF | c.479C>A (p.Ala160Asp) c.534C>A (p.Gly178=) c.80C>A (p.Ala27Asp) c.136C>A n.677C>A | gnomAD v4 |
15 | g.89333277C>A | CA393771391 | POLG,POLGARF | c.478G>T (p.Ala160Ser) c.533G>T (p.Gly178Val) c.79G>T (p.Ala27Ser) c.135G>T n.676G>T | gnomAD v4 |
15 | g.89333277C>G | CA393771392 | POLG,POLGARF | c.478G>C (p.Ala160Pro) c.533G>C (p.Gly178Ala) c.79G>C (p.Ala27Pro) c.135G>C n.676G>C | |
15 | g.89333277C>T | CA393771395 | POLG,POLGARF | c.478G>A (p.Ala160Thr) c.533G>A (p.Gly178Asp) c.79G>A (p.Ala27Thr) c.135G>A n.676G>A | gnomAD v4 |
15 | g.89333278C>A | CA393771397 | POLG,POLGARF | c.477G>T (p.Gln159His) c.532G>T (p.Gly178Cys) c.78G>T (p.Gln26His) c.134G>T n.675G>T | dbSNP |
15 | g.89333278C= | CA2194572026 | POLG,POLGARF | c.477G= (p.Gln159=) c.532G= (p.Gly178=) c.78G= (p.Gln26=) c.134G= n.675G= | |
15 | g.89333278C>G | CA393771400 | POLG,POLGARF | c.477G>C (p.Gln159His) c.532G>C (p.Gly178Arg) c.78G>C (p.Gln26His) c.134G>C n.675G>C | dbSNP |
15 | g.89333278C>T | CA492289940 | POLG,POLGARF | c.477G>A (p.Gln159=) c.532G>A (p.Gly178Ser) c.78G>A (p.Gln26=) c.134G>A n.675G>A | gnomAD v4 |
15 | g.89333279T>A | CA393771411 | POLG,POLGARF | c.476A>T (p.Gln159Leu) c.531A>T (p.Ala177=) c.77A>T (p.Gln26Leu) c.133A>T n.674A>T | |
15 | g.89333279T>C | CA393771408 | POLG,POLGARF | c.476A>G (p.Gln159Arg) c.531A>G (p.Ala177=) c.77A>G (p.Gln26Arg) c.133A>G n.674A>G | gnomAD v4 |
15 | g.89333279T>G | CA393771404 | POLG,POLGARF | c.476A>C (p.Gln159Pro) c.531A>C (p.Ala177=) c.77A>C (p.Gln26Pro) c.133A>C n.674A>C | |
15 | g.89333280G>A | CA393771414 | POLG,POLGARF | c.475C>T (p.Gln159Ter) c.530C>T (p.Ala177Val) c.76C>T (p.Gln26Ter) c.132C>T n.673C>T | gnomAD v4 |
15 | g.89333280G>C | CA393771419 | POLG,POLGARF | c.475C>G (p.Gln159Glu) c.530C>G (p.Ala177Gly) c.76C>G (p.Gln26Glu) c.132C>G n.673C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333280G= | CA2194572034 | POLG,POLGARF | c.475C= (p.Gln159=) c.530C= (p.Ala177=) c.76C= (p.Gln26=) c.132C= n.673C= | |
15 | g.89333280G>T | CA393771417 | POLG,POLGARF | c.475C>A (p.Gln159Lys) c.530C>A (p.Ala177Glu) c.76C>A (p.Gln26Lys) c.132C>A n.673C>A | gnomAD v4 |
15 | g.89333281C>A | CA393771423 | POLG,POLGARF | c.474G>T (p.Leu158Phe) c.529G>T (p.Ala177Ser) c.75G>T (p.Leu25Phe) c.131G>T n.672G>T | gnomAD v4 |
15 | g.89333281C>G | CA393771426 | POLG,POLGARF | c.474G>C (p.Leu158Phe) c.529G>C (p.Ala177Pro) c.75G>C (p.Leu25Phe) c.131G>C n.672G>C | |
15 | g.89333281C>T | CA492289944 | POLG,POLGARF | c.474G>A (p.Leu158=) c.529G>A (p.Ala177Thr) c.75G>A (p.Leu25=) c.131G>A n.672G>A | gnomAD v4 |
15 | g.89333282A>C | CA393771434 | POLG,POLGARF | c.473T>G (p.Leu158Trp) c.528T>G (p.Val176=) c.74T>G (p.Leu25Trp) c.130T>G n.671T>G | |
15 | g.89333282A>G | CA393771439 | POLG,POLGARF | c.473T>C (p.Leu158Ser) c.528T>C (p.Val176=) c.74T>C (p.Leu25Ser) c.130T>C n.671T>C | |
15 | g.89333282A>T | CA393771436 | POLG,POLGARF | c.473T>A (p.Leu158Ter) c.528T>A (p.Val176=) c.74T>A (p.Leu25Ter) c.130T>A n.671T>A | |
15 | g.89333283A= | CA2194572038 | POLG,POLGARF | c.472T= (p.Leu158=) c.527T= (p.Val176=) c.73T= (p.Leu25=) c.129T= n.670T= | |
15 | g.89333283A>C | CA393771442 | POLG,POLGARF | c.472T>G (p.Leu158Val) c.527T>G (p.Val176Gly) c.73T>G (p.Leu25Val) c.129T>G n.670T>G | gnomAD v4 |
15 | g.89333283A>G | CA492289945 | POLG,POLGARF | c.472T>C (p.Leu158=) c.527T>C (p.Val176Ala) c.73T>C (p.Leu25=) c.129T>C n.670T>C | ClinVar dbSNP |
15 | g.89333283A>T | CA393771444 | POLG,POLGARF | c.472T>A (p.Leu158Met) c.527T>A (p.Val176Asp) c.73T>A (p.Leu25Met) c.129T>A n.670T>A | |
15 | g.89333284C>A | CA7725109 | POLG,POLGARF | c.471G>T (p.Leu157=) c.526G>T (p.Val176Phe) c.72G>T (p.Leu24=) c.128G>T n.669G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333284C= | CA2194572051 | POLG,POLGARF | c.471G= (p.Leu157=) c.526G= (p.Val176=) c.72G= (p.Leu24=) c.128G= n.669G= | |
15 | g.89333284C>G | CA492289946 | POLG,POLGARF | c.471G>C (p.Leu157=) c.526G>C (p.Val176Leu) c.72G>C (p.Leu24=) c.128G>C n.669G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333284C>T | CA492289947 | POLG,POLGARF | c.471G>A (p.Leu157=) c.526G>A (p.Val176Ile) c.72G>A (p.Leu24=) c.128G>A n.669G>A | gnomAD v4 |
15 | g.89333285A= | CA2194572057 | POLG,POLGARF | c.470T= (p.Leu157=) c.525T= (p.Ala175=) c.71T= (p.Leu24=) c.127T= n.668T= | |
15 | g.89333285A>C | CA393771448 | POLG,POLGARF | c.470T>G (p.Leu157Arg) c.525T>G (p.Ala175=) c.71T>G (p.Leu24Arg) c.127T>G n.668T>G | |
15 | g.89333285A>G | CA10602290 | POLG,POLGARF | c.470T>C (p.Leu157Pro) c.525T>C (p.Ala175=) c.71T>C (p.Leu24Pro) c.127T>C n.668T>C | ClinVar dbSNP |
15 | g.89333285A>T | CA393771459 | POLG,POLGARF | c.470T>A (p.Leu157Gln) c.525T>A (p.Ala175=) c.71T>A (p.Leu24Gln) c.127T>A n.668T>A | |
15 | g.89333286G>A | CA492289951 | POLG,POLGARF | c.469C>T (p.Leu157=) c.524C>T (p.Ala175Val) c.70C>T (p.Leu24=) c.126C>T n.667C>T | gnomAD v4 |
15 | g.89333286G>C | CA393771462 | POLG,POLGARF | c.469C>G (p.Leu157Val) c.524C>G (p.Ala175Gly) c.70C>G (p.Leu24Val) c.126C>G n.667C>G | |
15 | g.89333286G>T | CA393771465 | POLG,POLGARF | c.469C>A (p.Leu157Met) c.524C>A (p.Ala175Asp) c.70C>A (p.Leu24Met) c.126C>A n.667C>A | gnomAD v4 |