Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.81934924A>C | CA401538076 | PYCR1 | c.540+2T>G (n.540+2T>G) c.621+2T>G (n.621+2T>G) c.357+2T>G (n.357+2T>G) c.450+2T>G (n.450+2T>G) c.501+2T>G (n.501+2T>G) | |
17 | g.81934924A>G | CA401538079 | PYCR1 | c.540+2T>C (n.540+2T>C) c.621+2T>C (n.621+2T>C) c.357+2T>C (n.357+2T>C) c.450+2T>C (n.450+2T>C) c.501+2T>C (n.501+2T>C) | |
17 | g.81934924A>T | CA401538081 | PYCR1 | c.540+2T>A (n.540+2T>A) c.621+2T>A (n.621+2T>A) c.357+2T>A (n.357+2T>A) c.450+2T>A (n.450+2T>A) c.501+2T>A (n.501+2T>A) | |
17 | g.81934924dup | CA628024657 | PYCR1 | c.540+2dup (n.540+2dup) c.621+2dup (n.621+2dup) c.357+2dup (n.357+2dup) c.450+2dup (n.450+2dup) c.501+2dup (n.501+2dup) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934925C>A | CA401538084 | PYCR1 | c.540+1G>T (n.540+1G>T) c.621+1G>T (n.621+1G>T) c.357+1G>T (n.357+1G>T) c.450+1G>T (n.450+1G>T) c.501+1G>T (n.501+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.81934925C= | CA2278749765 | PYCR1 | c.540+1G= (n.540+1G=) c.621+1G= (n.621+1G=) c.357+1G= (n.357+1G=) c.450+1G= (n.450+1G=) c.501+1G= (n.501+1G=) | |
17 | g.81934925C>G | CA401538086 | PYCR1 | c.540+1G>C (n.540+1G>C) c.621+1G>C (n.621+1G>C) c.357+1G>C (n.357+1G>C) c.450+1G>C (n.450+1G>C) c.501+1G>C (n.501+1G>C) | dbSNP gnomAD v4 |
17 | g.81934925C>T | CA501020 | PYCR1 | c.540+1G>A (n.540+1G>A) c.621+1G>A (n.621+1G>A) c.357+1G>A (n.357+1G>A) c.450+1G>A (n.450+1G>A) c.501+1G>A (n.501+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934926G>A | CA8845414 | PYCR1 | c.540C>T (p.Tyr180=) c.621C>T (p.Tyr207=) c.357C>T (p.Tyr119=) c.450C>T (p.Tyr150=) c.501C>T (p.Tyr167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934926G>C | CA401538090 | PYCR1 | c.540C>G (p.Tyr180Ter) c.621C>G (p.Tyr207Ter) c.357C>G (p.Tyr119Ter) c.450C>G (p.Tyr150Ter) c.501C>G (p.Tyr167Ter) | |
17 | g.81934926G= | CA2278749766 | PYCR1 | c.540C= (p.Tyr180=) c.621C= (p.Tyr207=) c.357C= (p.Tyr119=) c.450C= (p.Tyr150=) c.501C= (p.Tyr167=) | |
17 | g.81934926G>T | CA401538092 | PYCR1 | c.540C>A (p.Tyr180Ter) c.621C>A (p.Tyr207Ter) c.357C>A (p.Tyr119Ter) c.450C>A (p.Tyr150Ter) c.501C>A (p.Tyr167Ter) | gnomAD v4 |
17 | g.81934927T>A | CA401538094 | PYCR1 | c.539A>T (p.Tyr180Phe) c.620A>T (p.Tyr207Phe) c.356A>T (p.Tyr119Phe) c.449A>T (p.Tyr150Phe) c.500A>T (p.Tyr167Phe) | |
17 | g.81934927T>C | CA401538096 | PYCR1 | c.539A>G (p.Tyr180Cys) c.620A>G (p.Tyr207Cys) c.356A>G (p.Tyr119Cys) c.449A>G (p.Tyr150Cys) c.500A>G (p.Tyr167Cys) | |
17 | g.81934927T>G | CA401538098 | PYCR1 | c.539A>C (p.Tyr180Ser) c.620A>C (p.Tyr207Ser) c.356A>C (p.Tyr119Ser) c.449A>C (p.Tyr150Ser) c.500A>C (p.Tyr167Ser) | |
17 | g.81934928A= | CA2278749767 | PYCR1 | c.538T= (p.Tyr180=) c.619T= (p.Tyr207=) c.355T= (p.Tyr119=) c.448T= (p.Tyr150=) c.499T= (p.Tyr167=) | |
17 | g.81934928A>C | CA401538104 | PYCR1 | c.538T>G (p.Tyr180Asp) c.619T>G (p.Tyr207Asp) c.355T>G (p.Tyr119Asp) c.448T>G (p.Tyr150Asp) c.499T>G (p.Tyr167Asp) | |
17 | g.81934928A>G | CA401538100 | PYCR1 | c.538T>C (p.Tyr180His) c.619T>C (p.Tyr207His) c.355T>C (p.Tyr119His) c.448T>C (p.Tyr150His) c.499T>C (p.Tyr167His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934928A>T | CA401538103 | PYCR1 | c.538T>A (p.Tyr180Asn) c.619T>A (p.Tyr207Asn) c.355T>A (p.Tyr119Asn) c.448T>A (p.Tyr150Asn) c.499T>A (p.Tyr167Asn) | |
17 | g.81934929G>A | CA8845415 | PYCR1 | c.537C>T (p.Ala179=) c.618C>T (p.Ala206=) c.354C>T (p.Ala118=) c.447C>T (p.Ala149=) c.498C>T (p.Ala166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934929G>C | CA502426320 | PYCR1 | c.537C>G (p.Ala179=) c.618C>G (p.Ala206=) c.354C>G (p.Ala118=) c.447C>G (p.Ala149=) c.498C>G (p.Ala166=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934929G= | CA2278749768 | PYCR1 | c.537C= (p.Ala179=) c.618C= (p.Ala206=) c.354C= (p.Ala118=) c.447C= (p.Ala149=) c.498C= (p.Ala166=) | |
17 | g.81934929G>T | CA502426321 | PYCR1 | c.537C>A (p.Ala179=) c.618C>A (p.Ala206=) c.354C>A (p.Ala118=) c.447C>A (p.Ala149=) c.498C>A (p.Ala166=) | gnomAD v4 |
17 | g.81934930G>A | CA401538107 | PYCR1 | c.536C>T (p.Ala179Val) c.617C>T (p.Ala206Val) c.353C>T (p.Ala118Val) c.446C>T (p.Ala149Val) c.497C>T (p.Ala166Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934930G>C | CA401538108 | PYCR1 | c.536C>G (p.Ala179Gly) c.617C>G (p.Ala206Gly) c.353C>G (p.Ala118Gly) c.446C>G (p.Ala149Gly) c.497C>G (p.Ala166Gly) | |
17 | g.81934930G= | CA2278749769 | PYCR1 | c.536C= (p.Ala179=) c.617C= (p.Ala206=) c.353C= (p.Ala118=) c.446C= (p.Ala149=) c.497C= (p.Ala166=) | |
17 | g.81934930G>T | CA401538111 | PYCR1 | c.536C>A (p.Ala179Asp) c.617C>A (p.Ala206Asp) c.353C>A (p.Ala118Asp) c.446C>A (p.Ala149Asp) c.497C>A (p.Ala166Asp) | |
17 | g.81934931C>A | CA401538113 | PYCR1 | c.535G>T (p.Ala179Ser) c.616G>T (p.Ala206Ser) c.352G>T (p.Ala118Ser) c.445G>T (p.Ala149Ser) c.496G>T (p.Ala166Ser) | |
17 | g.81934931C= | CA2278749770 | PYCR1 | c.535G= (p.Ala179=) c.616G= (p.Ala206=) c.352G= (p.Ala118=) c.445G= (p.Ala149=) c.496G= (p.Ala166=) | |
17 | g.81934931C>G | CA401538115 | PYCR1 | c.535G>C (p.Ala179Pro) c.616G>C (p.Ala206Pro) c.352G>C (p.Ala118Pro) c.445G>C (p.Ala149Pro) c.496G>C (p.Ala166Pro) | |
17 | g.81934931C>T | CA8845416 | PYCR1 | c.535G>A (p.Ala179Thr) c.616G>A (p.Ala206Thr) c.352G>A (p.Ala118Thr) c.445G>A (p.Ala149Thr) c.496G>A (p.Ala166Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934932G>A | CA8845417 | PYCR1 | c.534C>T (p.Pro178=) c.615C>T (p.Pro205=) c.351C>T (p.Pro117=) c.444C>T (p.Pro148=) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934932G>C | CA502426322 | PYCR1 | c.534C>G (p.Pro178=) c.615C>G (p.Pro205=) c.351C>G (p.Pro117=) c.444C>G (p.Pro148=) c.495C>G (p.Pro165=) | |
17 | g.81934932G= | CA2278749771 | PYCR1 | c.534C= (p.Pro178=) c.615C= (p.Pro205=) c.351C= (p.Pro117=) c.444C= (p.Pro148=) c.495C= (p.Pro165=) | |
17 | g.81934932G>T | CA502426323 | PYCR1 | c.534C>A (p.Pro178=) c.615C>A (p.Pro205=) c.351C>A (p.Pro117=) c.444C>A (p.Pro148=) c.495C>A (p.Pro165=) | gnomAD v4 |
17 | g.81934935del | CA2576428653 | PYCR1 | c.534del (p.Ala179ProfsTer15) c.615del (p.Ala206ProfsTer15) c.534del (p.Ala179ProfsTer?) c.351del (p.Ala118ProfsTer15) c.444del (p.Ala149ProfsTer15) c.495del (p.Ala166ProfsTer?) | |
17 | g.81934933G>A | CA401538120 | PYCR1 | c.533C>T (p.Pro178Leu) c.614C>T (p.Pro205Leu) c.350C>T (p.Pro117Leu) c.443C>T (p.Pro148Leu) c.494C>T (p.Pro165Leu) | |
17 | g.81934933G>C | CA401538122 | PYCR1 | c.533C>G (p.Pro178Arg) c.614C>G (p.Pro205Arg) c.350C>G (p.Pro117Arg) c.443C>G (p.Pro148Arg) c.494C>G (p.Pro165Arg) | |
17 | g.81934933G>T | CA401538124 | PYCR1 | c.533C>A (p.Pro178His) c.614C>A (p.Pro205His) c.350C>A (p.Pro117His) c.443C>A (p.Pro148His) c.494C>A (p.Pro165His) | |
17 | g.81934934G>A | CA401538130 | PYCR1 | c.532C>T (p.Pro178Ser) c.613C>T (p.Pro205Ser) c.349C>T (p.Pro117Ser) c.442C>T (p.Pro148Ser) c.493C>T (p.Pro165Ser) | |
17 | g.81934934G>C | CA401538128 | PYCR1 | c.532C>G (p.Pro178Ala) c.613C>G (p.Pro205Ala) c.349C>G (p.Pro117Ala) c.442C>G (p.Pro148Ala) c.493C>G (p.Pro165Ala) | |
17 | g.81934934G>T | CA401538126 | PYCR1 | c.532C>A (p.Pro178Thr) c.613C>A (p.Pro205Thr) c.349C>A (p.Pro117Thr) c.442C>A (p.Pro148Thr) c.493C>A (p.Pro165Thr) | |
17 | g.81934935G>A | CA8845418 | PYCR1 | c.531C>T (p.Gly177=) c.612C>T (p.Gly204=) c.348C>T (p.Gly116=) c.441C>T (p.Gly147=) c.492C>T (p.Gly164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934935G>C | CA502426327 | PYCR1 | c.531C>G (p.Gly177=) c.612C>G (p.Gly204=) c.348C>G (p.Gly116=) c.441C>G (p.Gly147=) c.492C>G (p.Gly164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934935G= | CA2278749772 | PYCR1 | c.531C= (p.Gly177=) c.612C= (p.Gly204=) c.348C= (p.Gly116=) c.441C= (p.Gly147=) c.492C= (p.Gly164=) | |
17 | g.81934935G>T | CA502426328 | PYCR1 | c.531C>A (p.Gly177=) c.612C>A (p.Gly204=) c.348C>A (p.Gly116=) c.441C>A (p.Gly147=) c.492C>A (p.Gly164=) | |
17 | g.81934936C>A | CA401538137 | PYCR1 | c.530G>T (p.Gly177Val) c.611G>T (p.Gly204Val) c.347G>T (p.Gly116Val) c.440G>T (p.Gly147Val) c.491G>T (p.Gly164Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.81934936C= | CA2278749773 | PYCR1 | c.530G= (p.Gly177=) c.611G= (p.Gly204=) c.347G= (p.Gly116=) c.440G= (p.Gly147=) c.491G= (p.Gly164=) | |
17 | g.81934936C>G | CA401538135 | PYCR1 | c.530G>C (p.Gly177Ala) c.611G>C (p.Gly204Ala) c.347G>C (p.Gly116Ala) c.440G>C (p.Gly147Ala) c.491G>C (p.Gly164Ala) | |
17 | g.81934936C>T | CA401538138 | PYCR1 | c.530G>A (p.Gly177Asp) c.611G>A (p.Gly204Asp) c.347G>A (p.Gly116Asp) c.440G>A (p.Gly147Asp) c.491G>A (p.Gly164Asp) | gnomAD v4 |
17 | g.81934937C>A | CA401538140 | PYCR1 | c.529G>T (p.Gly177Cys) c.610G>T (p.Gly204Cys) c.346G>T (p.Gly116Cys) c.439G>T (p.Gly147Cys) c.490G>T (p.Gly164Cys) | |
17 | g.81934937C= | CA2278749774 | PYCR1 | c.529G= (p.Gly177=) c.610G= (p.Gly204=) c.346G= (p.Gly116=) c.439G= (p.Gly147=) c.490G= (p.Gly164=) | |
17 | g.81934937C>G | CA401538143 | PYCR1 | c.529G>C (p.Gly177Arg) c.610G>C (p.Gly204Arg) c.346G>C (p.Gly116Arg) c.439G>C (p.Gly147Arg) c.490G>C (p.Gly164Arg) | |
17 | g.81934937C>T | CA8845419 | PYCR1 | c.529G>A (p.Gly177Ser) c.610G>A (p.Gly204Ser) c.346G>A (p.Gly116Ser) c.439G>A (p.Gly147Ser) c.490G>A (p.Gly164Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934938G>A | CA8845420 | PYCR1 | c.528C>T (p.Ser176=) c.609C>T (p.Ser203=) c.345C>T (p.Ser115=) c.438C>T (p.Ser146=) c.489C>T (p.Ser163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934938G>C | CA401538146 | PYCR1 | c.528C>G (p.Ser176Arg) c.609C>G (p.Ser203Arg) c.345C>G (p.Ser115Arg) c.438C>G (p.Ser146Arg) c.489C>G (p.Ser163Arg) | gnomAD v4 |
17 | g.81934938G= | CA2278749775 | PYCR1 | c.528C= (p.Ser176=) c.609C= (p.Ser203=) c.345C= (p.Ser115=) c.438C= (p.Ser146=) c.489C= (p.Ser163=) | |
17 | g.81934938G>T | CA401538148 | PYCR1 | c.528C>A (p.Ser176Arg) c.609C>A (p.Ser203Arg) c.345C>A (p.Ser115Arg) c.438C>A (p.Ser146Arg) c.489C>A (p.Ser163Arg) | |
17 | g.81934939C>A | CA401538153 | PYCR1 | c.527G>T (p.Ser176Ile) c.608G>T (p.Ser203Ile) c.344G>T (p.Ser115Ile) c.437G>T (p.Ser146Ile) c.488G>T (p.Ser163Ile) | |
17 | g.81934939C= | CA2278749776 | PYCR1 | c.527G= (p.Ser176=) c.608G= (p.Ser203=) c.344G= (p.Ser115=) c.437G= (p.Ser146=) c.488G= (p.Ser163=) | |
17 | g.81934939C>G | CA401538151 | PYCR1 | c.527G>C (p.Ser176Thr) c.608G>C (p.Ser203Thr) c.344G>C (p.Ser115Thr) c.437G>C (p.Ser146Thr) c.488G>C (p.Ser163Thr) | |
17 | g.81934939C>T | CA8845421 | PYCR1 | c.527G>A (p.Ser176Asn) c.608G>A (p.Ser203Asn) c.344G>A (p.Ser115Asn) c.437G>A (p.Ser146Asn) c.488G>A (p.Ser163Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934940T>A | CA401538155 | PYCR1 | c.526A>T (p.Ser176Cys) c.607A>T (p.Ser203Cys) c.343A>T (p.Ser115Cys) c.436A>T (p.Ser146Cys) c.487A>T (p.Ser163Cys) | |
17 | g.81934940T>C | CA401538157 | PYCR1 | c.526A>G (p.Ser176Gly) c.607A>G (p.Ser203Gly) c.343A>G (p.Ser115Gly) c.436A>G (p.Ser146Gly) c.487A>G (p.Ser163Gly) | |
17 | g.81934940T>G | CA401538158 | PYCR1 | c.526A>C (p.Ser176Arg) c.607A>C (p.Ser203Arg) c.343A>C (p.Ser115Arg) c.436A>C (p.Ser146Arg) c.487A>C (p.Ser163Arg) | |
17 | g.81934941G>A | CA502426357 | PYCR1 | c.525C>T (p.Gly175=) c.606C>T (p.Gly202=) c.342C>T (p.Gly114=) c.435C>T (p.Gly145=) c.486C>T (p.Gly162=) | |
17 | g.81934941G>C | CA502426353 | PYCR1 | c.525C>G (p.Gly175=) c.606C>G (p.Gly202=) c.342C>G (p.Gly114=) c.435C>G (p.Gly145=) c.486C>G (p.Gly162=) | dbSNP |
17 | g.81934941G= | CA2278749777 | PYCR1 | c.525C= (p.Gly175=) c.606C= (p.Gly202=) c.342C= (p.Gly114=) c.435C= (p.Gly145=) c.486C= (p.Gly162=) | |
17 | g.81934941G>T | CA502426354 | PYCR1 | c.525C>A (p.Gly175=) c.606C>A (p.Gly202=) c.342C>A (p.Gly114=) c.435C>A (p.Gly145=) c.486C>A (p.Gly162=) | |
17 | g.81934942C>A | CA401538160 | PYCR1 | c.524G>T (p.Gly175Val) c.605G>T (p.Gly202Val) c.341G>T (p.Gly114Val) c.434G>T (p.Gly145Val) c.485G>T (p.Gly162Val) | |
17 | g.81934942C>G | CA401538161 | PYCR1 | c.524G>C (p.Gly175Ala) c.605G>C (p.Gly202Ala) c.341G>C (p.Gly114Ala) c.434G>C (p.Gly145Ala) c.485G>C (p.Gly162Ala) | |
17 | g.81934942C>T | CA401538163 | PYCR1 | c.524G>A (p.Gly175Asp) c.605G>A (p.Gly202Asp) c.341G>A (p.Gly114Asp) c.434G>A (p.Gly145Asp) c.485G>A (p.Gly162Asp) | gnomAD v4 |
17 | g.81934943C>A | CA401538165 | PYCR1 | c.523G>T (p.Gly175Cys) c.604G>T (p.Gly202Cys) c.340G>T (p.Gly114Cys) c.433G>T (p.Gly145Cys) c.484G>T (p.Gly162Cys) | |
17 | g.81934943C= | CA2278749778 | PYCR1 | c.523G= (p.Gly175=) c.604G= (p.Gly202=) c.340G= (p.Gly114=) c.433G= (p.Gly145=) c.484G= (p.Gly162=) | |
17 | g.81934943C>G | CA401538170 | PYCR1 | c.523G>C (p.Gly175Arg) c.604G>C (p.Gly202Arg) c.340G>C (p.Gly114Arg) c.433G>C (p.Gly145Arg) c.484G>C (p.Gly162Arg) | |
17 | g.81934943C>T | CA8845422 | PYCR1 | c.523G>A (p.Gly175Ser) c.604G>A (p.Gly202Ser) c.340G>A (p.Gly114Ser) c.433G>A (p.Gly145Ser) c.484G>A (p.Gly162Ser) | dbSNP ExAC gnomAD v4 |
17 | g.81934944A>C | CA401538171 | PYCR1 | c.522T>G (p.Ser174Arg) c.603T>G (p.Ser201Arg) c.339T>G (p.Ser113Arg) c.432T>G (p.Ser144Arg) c.483T>G (p.Ser161Arg) | gnomAD v4 |
17 | g.81934944A>G | CA502426360 | PYCR1 | c.522T>C (p.Ser174=) c.603T>C (p.Ser201=) c.339T>C (p.Ser113=) c.432T>C (p.Ser144=) c.483T>C (p.Ser161=) | |
17 | g.81934944A>T | CA401538174 | PYCR1 | c.522T>A (p.Ser174Arg) c.603T>A (p.Ser201Arg) c.339T>A (p.Ser113Arg) c.432T>A (p.Ser144Arg) c.483T>A (p.Ser161Arg) | |
17 | g.81934945C>A | CA401538175 | PYCR1 | c.521G>T (p.Ser174Ile) c.602G>T (p.Ser201Ile) c.338G>T (p.Ser113Ile) c.431G>T (p.Ser144Ile) c.482G>T (p.Ser161Ile) | |
17 | g.81934945C= | CA2278749779 | PYCR1 | c.521G= (p.Ser174=) c.602G= (p.Ser201=) c.338G= (p.Ser113=) c.431G= (p.Ser144=) c.482G= (p.Ser161=) | |
17 | g.81934945C>G | CA401538176 | PYCR1 | c.521G>C (p.Ser174Thr) c.602G>C (p.Ser201Thr) c.338G>C (p.Ser113Thr) c.431G>C (p.Ser144Thr) c.482G>C (p.Ser161Thr) | |
17 | g.81934945C>T | CA401538177 | PYCR1 | c.521G>A (p.Ser174Asn) c.602G>A (p.Ser201Asn) c.338G>A (p.Ser113Asn) c.431G>A (p.Ser144Asn) c.482G>A (p.Ser161Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934946T>A | CA401538178 | PYCR1 | c.520A>T (p.Ser174Cys) c.601A>T (p.Ser201Cys) c.337A>T (p.Ser113Cys) c.430A>T (p.Ser144Cys) c.481A>T (p.Ser161Cys) | |
17 | g.81934946T>C | CA401538180 | PYCR1 | c.520A>G (p.Ser174Gly) c.601A>G (p.Ser201Gly) c.337A>G (p.Ser113Gly) c.430A>G (p.Ser144Gly) c.481A>G (p.Ser161Gly) | |
17 | g.81934946T>G | CA401538182 | PYCR1 | c.520A>C (p.Ser174Arg) c.601A>C (p.Ser201Arg) c.337A>C (p.Ser113Arg) c.430A>C (p.Ser144Arg) c.481A>C (p.Ser161Arg) | |
17 | g.81934947G>A | CA8845423 | PYCR1 | c.519C>T (p.Leu173=) c.600C>T (p.Leu200=) c.336C>T (p.Leu112=) c.429C>T (p.Leu143=) c.480C>T (p.Leu160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934947G>C | CA502426363 | PYCR1 | c.519C>G (p.Leu173=) c.600C>G (p.Leu200=) c.336C>G (p.Leu112=) c.429C>G (p.Leu143=) c.480C>G (p.Leu160=) | |
17 | g.81934947G= | CA2278749780 | PYCR1 | c.519C= (p.Leu173=) c.600C= (p.Leu200=) c.336C= (p.Leu112=) c.429C= (p.Leu143=) c.480C= (p.Leu160=) | |
17 | g.81934947G>T | CA502426364 | PYCR1 | c.519C>A (p.Leu173=) c.600C>A (p.Leu200=) c.336C>A (p.Leu112=) c.429C>A (p.Leu143=) c.480C>A (p.Leu160=) | |
17 | g.81934948_81934949insTGCCGGTAATATTGTGGA | CA2810645700 | PYCR1 | c.519_520insCACAATATTACCGGCATC (p.Leu173_Ser174insHisAsnIleThrGlyIle) c.600_601insCACAATATTACCGGCATC (p.Leu200_Ser201insHisAsnIleThrGlyIle) c.336_337insCACAATATTACCGGCATC (p.Leu112_Ser113insHisAsnIleThrGlyIle) c.429_430insCACAATATTACCGGCATC (p.Leu143_Ser144insHisAsnIleThrGlyIle) c.480_481insCACAATATTACCGGCATC (p.Leu160_Ser161insHisAsnIleThrGlyIle) | |
17 | g.81934948A>C | CA401538186 | PYCR1 | c.518T>G (p.Leu173Arg) c.599T>G (p.Leu200Arg) c.335T>G (p.Leu112Arg) c.428T>G (p.Leu143Arg) c.479T>G (p.Leu160Arg) | |
17 | g.81934948A>G | CA401538187 | PYCR1 | c.518T>C (p.Leu173Pro) c.599T>C (p.Leu200Pro) c.335T>C (p.Leu112Pro) c.428T>C (p.Leu143Pro) c.479T>C (p.Leu160Pro) | |
17 | g.81934948A>T | CA401538189 | PYCR1 | c.518T>A (p.Leu173His) c.599T>A (p.Leu200His) c.335T>A (p.Leu112His) c.428T>A (p.Leu143His) c.479T>A (p.Leu160His) | |
17 | g.81934948_81934949insT | CA2549230953 | PYCR1 | c.517_518insA (p.Leu173HisfsTer18) c.598_599insA (p.Leu200HisfsTer18) c.517_518insA (p.Leu173HisfsTer?) c.334_335insA (p.Leu112HisfsTer18) c.427_428insA (p.Leu143HisfsTer18) c.478_479insA (p.Leu160HisfsTer?) | |
17 | g.81934949G>A | CA401538196 | PYCR1 | c.517C>T (p.Leu173Phe) c.598C>T (p.Leu200Phe) c.334C>T (p.Leu112Phe) c.427C>T (p.Leu143Phe) c.478C>T (p.Leu160Phe) | gnomAD v4 |
17 | g.81934949G>C | CA401538192 | PYCR1 | c.517C>G (p.Leu173Val) c.598C>G (p.Leu200Val) c.334C>G (p.Leu112Val) c.427C>G (p.Leu143Val) c.478C>G (p.Leu160Val) | |
17 | g.81934949G= | CA2278749781 | PYCR1 | c.517C= (p.Leu173=) c.598C= (p.Leu200=) c.334C= (p.Leu112=) c.427C= (p.Leu143=) c.478C= (p.Leu160=) | |
17 | g.81934949G>T | CA401538195 | PYCR1 | c.517C>A (p.Leu173Ile) c.598C>A (p.Leu200Ile) c.334C>A (p.Leu112Ile) c.427C>A (p.Leu143Ile) c.478C>A (p.Leu160Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934949_81934980del | CA2739268504 | PYCR1 | c.486_517del (p.Glu163GlnfsTer17) c.567_598del (p.Glu190GlnfsTer17) c.486_517del (p.Glu163GlnfsTer?) c.303_334del (p.Glu102GlnfsTer17) c.396_427del (p.Glu133GlnfsTer17) c.447_478del (p.Glu150GlnfsTer?) | ClinVar |
17 | g.81934950C>A | CA502426369 | PYCR1 | c.516G>T (p.Gly172=) c.597G>T (p.Gly199=) c.333G>T (p.Gly111=) c.426G>T (p.Gly142=) c.477G>T (p.Gly159=) | |
17 | g.81934950C= | CA2278749782 | PYCR1 | c.516G= (p.Gly172=) c.597G= (p.Gly199=) c.333G= (p.Gly111=) c.426G= (p.Gly142=) c.477G= (p.Gly159=) | |
17 | g.81934950C>G | CA502426370 | PYCR1 | c.516G>C (p.Gly172=) c.597G>C (p.Gly199=) c.333G>C (p.Gly111=) c.426G>C (p.Gly142=) c.477G>C (p.Gly159=) | |
17 | g.81934950C>T | CA502426371 | PYCR1 | c.516G>A (p.Gly172=) c.597G>A (p.Gly199=) c.333G>A (p.Gly111=) c.426G>A (p.Gly142=) c.477G>A (p.Gly159=) | ClinVar dbSNP gnomAD v4 |
17 | g.81934951C>A | CA8845424 | PYCR1 | c.515G>T (p.Gly172Val) c.596G>T (p.Gly199Val) c.332G>T (p.Gly111Val) c.425G>T (p.Gly142Val) c.476G>T (p.Gly159Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934951C= | CA2278749783 | PYCR1 | c.515G= (p.Gly172=) c.596G= (p.Gly199=) c.332G= (p.Gly111=) c.425G= (p.Gly142=) c.476G= (p.Gly159=) | |
17 | g.81934951C>G | CA8845425 | PYCR1 | c.515G>C (p.Gly172Ala) c.596G>C (p.Gly199Ala) c.332G>C (p.Gly111Ala) c.425G>C (p.Gly142Ala) c.476G>C (p.Gly159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934951C>T | CA401538201 | PYCR1 | c.515G>A (p.Gly172Glu) c.596G>A (p.Gly199Glu) c.332G>A (p.Gly111Glu) c.425G>A (p.Gly142Glu) c.476G>A (p.Gly159Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934952C>A | CA401538204 | PYCR1 | c.514G>T (p.Gly172Trp) c.595G>T (p.Gly199Trp) c.331G>T (p.Gly111Trp) c.424G>T (p.Gly142Trp) c.475G>T (p.Gly159Trp) | |
17 | g.81934952C>G | CA401538206 | PYCR1 | c.514G>C (p.Gly172Arg) c.595G>C (p.Gly199Arg) c.331G>C (p.Gly111Arg) c.424G>C (p.Gly142Arg) c.475G>C (p.Gly159Arg) | |
17 | g.81934952C>T | CA401538208 | PYCR1 | c.514G>A (p.Gly172Arg) c.595G>A (p.Gly199Arg) c.331G>A (p.Gly111Arg) c.424G>A (p.Gly142Arg) c.475G>A (p.Gly159Arg) | |
17 | g.81934953C>A | CA502426373 | PYCR1 | c.513G>T (p.Thr171=) c.594G>T (p.Thr198=) c.330G>T (p.Thr110=) c.423G>T (p.Thr141=) c.474G>T (p.Thr158=) | |
17 | g.81934953C= | CA2278749784 | PYCR1 | c.513G= (p.Thr171=) c.594G= (p.Thr198=) c.330G= (p.Thr110=) c.423G= (p.Thr141=) c.474G= (p.Thr158=) | |
17 | g.81934953C>G | CA502426374 | PYCR1 | c.513G>C (p.Thr171=) c.594G>C (p.Thr198=) c.330G>C (p.Thr110=) c.423G>C (p.Thr141=) c.474G>C (p.Thr158=) | |
17 | g.81934953C>T | CA8845426 | PYCR1 | c.513G>A (p.Thr171=) c.594G>A (p.Thr198=) c.330G>A (p.Thr110=) c.423G>A (p.Thr141=) c.474G>A (p.Thr158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934954G>A | CA295137736 | PYCR1 | c.512C>T (p.Thr171Met) c.593C>T (p.Thr198Met) c.329C>T (p.Thr110Met) c.422C>T (p.Thr141Met) c.473C>T (p.Thr158Met) | dbSNP COSMIC COSMIC |
17 | g.81934954G>C | CA401538211 | PYCR1 | c.512C>G (p.Thr171Arg) c.593C>G (p.Thr198Arg) c.329C>G (p.Thr110Arg) c.422C>G (p.Thr141Arg) c.473C>G (p.Thr158Arg) | |
17 | g.81934954G= | CA2278749785 | PYCR1 | c.512C= (p.Thr171=) c.593C= (p.Thr198=) c.329C= (p.Thr110=) c.422C= (p.Thr141=) c.473C= (p.Thr158=) | |
17 | g.81934954G>T | CA401538214 | PYCR1 | c.512C>A (p.Thr171Lys) c.593C>A (p.Thr198Lys) c.329C>A (p.Thr110Lys) c.422C>A (p.Thr141Lys) c.473C>A (p.Thr158Lys) | |
17 | g.81934955T>A | CA401538216 | PYCR1 | c.511A>T (p.Thr171Ser) c.592A>T (p.Thr198Ser) c.328A>T (p.Thr110Ser) c.421A>T (p.Thr141Ser) c.472A>T (p.Thr158Ser) | |
17 | g.81934955T>C | CA401538218 | PYCR1 | c.511A>G (p.Thr171Ala) c.592A>G (p.Thr198Ala) c.328A>G (p.Thr110Ala) c.421A>G (p.Thr141Ala) c.472A>G (p.Thr158Ala) | |
17 | g.81934955T>G | CA401538220 | PYCR1 | c.511A>C (p.Thr171Pro) c.592A>C (p.Thr198Pro) c.328A>C (p.Thr110Pro) c.421A>C (p.Thr141Pro) c.472A>C (p.Thr158Pro) | |
17 | g.81934956G>A | CA502426375 | PYCR1 | c.510C>T (p.Val170=) c.591C>T (p.Val197=) c.327C>T (p.Val109=) c.420C>T (p.Val140=) c.471C>T (p.Val157=) | |
17 | g.81934956G>C | CA502426376 | PYCR1 | c.510C>G (p.Val170=) c.591C>G (p.Val197=) c.327C>G (p.Val109=) c.420C>G (p.Val140=) c.471C>G (p.Val157=) | |
17 | g.81934956G>T | CA502426377 | PYCR1 | c.510C>A (p.Val170=) c.591C>A (p.Val197=) c.327C>A (p.Val109=) c.420C>A (p.Val140=) c.471C>A (p.Val157=) | gnomAD v4 |
17 | g.81934957A>C | CA401538226 | PYCR1 | c.509T>G (p.Val170Gly) c.590T>G (p.Val197Gly) c.326T>G (p.Val109Gly) c.419T>G (p.Val140Gly) c.470T>G (p.Val157Gly) | |
17 | g.81934957A>G | CA401538223 | PYCR1 | c.509T>C (p.Val170Ala) c.590T>C (p.Val197Ala) c.326T>C (p.Val109Ala) c.419T>C (p.Val140Ala) c.470T>C (p.Val157Ala) | |
17 | g.81934957A>T | CA401538225 | PYCR1 | c.509T>A (p.Val170Asp) c.590T>A (p.Val197Asp) c.326T>A (p.Val109Asp) c.419T>A (p.Val140Asp) c.470T>A (p.Val157Asp) | |
17 | g.81934958C>A | CA401538229 | PYCR1 | c.508G>T (p.Val170Phe) c.589G>T (p.Val197Phe) c.325G>T (p.Val109Phe) c.418G>T (p.Val140Phe) c.469G>T (p.Val157Phe) | |
17 | g.81934958C= | CA2278749786 | PYCR1 | c.508G= (p.Val170=) c.589G= (p.Val197=) c.325G= (p.Val109=) c.418G= (p.Val140=) c.469G= (p.Val157=) | |
17 | g.81934958C>G | CA401538231 | PYCR1 | c.508G>C (p.Val170Leu) c.589G>C (p.Val197Leu) c.325G>C (p.Val109Leu) c.418G>C (p.Val140Leu) c.469G>C (p.Val157Leu) | gnomAD v4 |
17 | g.81934958C>T | CA8845427 | PYCR1 | c.508G>A (p.Val170Ile) c.589G>A (p.Val197Ile) c.325G>A (p.Val109Ile) c.418G>A (p.Val140Ile) c.469G>A (p.Val157Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934959G>A | CA8845428 | PYCR1 | c.507C>T (p.Ala169=) c.588C>T (p.Ala196=) c.324C>T (p.Ala108=) c.417C>T (p.Ala139=) c.468C>T (p.Ala156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934959G>C | CA502426379 | PYCR1 | c.507C>G (p.Ala169=) c.588C>G (p.Ala196=) c.324C>G (p.Ala108=) c.417C>G (p.Ala139=) c.468C>G (p.Ala156=) | |
17 | g.81934959G= | CA2278749787 | PYCR1 | c.507C= (p.Ala169=) c.588C= (p.Ala196=) c.324C= (p.Ala108=) c.417C= (p.Ala139=) c.468C= (p.Ala156=) | |
17 | g.81934959G>T | CA502426378 | PYCR1 | c.507C>A (p.Ala169=) c.588C>A (p.Ala196=) c.324C>A (p.Ala108=) c.417C>A (p.Ala139=) c.468C>A (p.Ala156=) | gnomAD v4 |
17 | g.81934960G>A | CA401538234 | PYCR1 | c.506C>T (p.Ala169Val) c.587C>T (p.Ala196Val) c.323C>T (p.Ala108Val) c.416C>T (p.Ala139Val) c.467C>T (p.Ala156Val) | gnomAD v4 COSMIC COSMIC |
17 | g.81934960G>C | CA401538236 | PYCR1 | c.506C>G (p.Ala169Gly) c.587C>G (p.Ala196Gly) c.323C>G (p.Ala108Gly) c.416C>G (p.Ala139Gly) c.467C>G (p.Ala156Gly) | |
17 | g.81934960G>T | CA401538237 | PYCR1 | c.506C>A (p.Ala169Asp) c.587C>A (p.Ala196Asp) c.323C>A (p.Ala108Asp) c.416C>A (p.Ala139Asp) c.467C>A (p.Ala156Asp) | gnomAD v4 |
17 | g.81934961C>A | CA401538239 | PYCR1 | c.505G>T (p.Ala169Ser) c.586G>T (p.Ala196Ser) c.322G>T (p.Ala108Ser) c.415G>T (p.Ala139Ser) c.466G>T (p.Ala156Ser) | |
17 | g.81934961C= | CA2278749788 | PYCR1 | c.505G= (p.Ala169=) c.586G= (p.Ala196=) c.322G= (p.Ala108=) c.415G= (p.Ala139=) c.466G= (p.Ala156=) | |
17 | g.81934961C>G | CA401538242 | PYCR1 | c.505G>C (p.Ala169Pro) c.586G>C (p.Ala196Pro) c.322G>C (p.Ala108Pro) c.415G>C (p.Ala139Pro) c.466G>C (p.Ala156Pro) | |
17 | g.81934961C>T | CA401538244 | PYCR1 | c.505G>A (p.Ala169Thr) c.586G>A (p.Ala196Thr) c.322G>A (p.Ala108Thr) c.415G>A (p.Ala139Thr) c.466G>A (p.Ala156Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934962A= | CA2278749789 | PYCR1 | c.504T= (p.Asp168=) c.585T= (p.Asp195=) c.321T= (p.Asp107=) c.414T= (p.Asp138=) c.465T= (p.Asp155=) | |
17 | g.81934962A>C | CA401538246 | PYCR1 | c.504T>G (p.Asp168Glu) c.585T>G (p.Asp195Glu) c.321T>G (p.Asp107Glu) c.414T>G (p.Asp138Glu) c.465T>G (p.Asp155Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934962A>G | CA502426380 | PYCR1 | c.504T>C (p.Asp168=) c.585T>C (p.Asp195=) c.321T>C (p.Asp107=) c.414T>C (p.Asp138=) c.465T>C (p.Asp155=) | gnomAD v4 |
17 | g.81934962A>T | CA401538247 | PYCR1 | c.504T>A (p.Asp168Glu) c.585T>A (p.Asp195Glu) c.321T>A (p.Asp107Glu) c.414T>A (p.Asp138Glu) c.465T>A (p.Asp155Glu) | |
17 | g.81934963T>A | CA401538249 | PYCR1 | c.503A>T (p.Asp168Val) c.584A>T (p.Asp195Val) c.320A>T (p.Asp107Val) c.413A>T (p.Asp138Val) c.464A>T (p.Asp155Val) | |
17 | g.81934963T>C | CA401538253 | PYCR1 | c.503A>G (p.Asp168Gly) c.584A>G (p.Asp195Gly) c.320A>G (p.Asp107Gly) c.413A>G (p.Asp138Gly) c.464A>G (p.Asp155Gly) | |
17 | g.81934963T>G | CA401538251 | PYCR1 | c.503A>C (p.Asp168Ala) c.584A>C (p.Asp195Ala) c.320A>C (p.Asp107Ala) c.413A>C (p.Asp138Ala) c.464A>C (p.Asp155Ala) | |
17 | g.81934964C>A | CA401538256 | PYCR1 | c.502G>T (p.Asp168Tyr) c.583G>T (p.Asp195Tyr) c.319G>T (p.Asp107Tyr) c.412G>T (p.Asp138Tyr) c.463G>T (p.Asp155Tyr) | |
17 | g.81934964C>G | CA401538260 | PYCR1 | c.502G>C (p.Asp168His) c.583G>C (p.Asp195His) c.319G>C (p.Asp107His) c.412G>C (p.Asp138His) c.463G>C (p.Asp155His) | |
17 | g.81934964C>T | CA401538257 | PYCR1 | c.502G>A (p.Asp168Asn) c.583G>A (p.Asp195Asn) c.319G>A (p.Asp107Asn) c.412G>A (p.Asp138Asn) c.463G>A (p.Asp155Asn) | |
17 | g.81934965A>C | CA401538261 | PYCR1 | c.501T>G (p.Ile167Met) c.582T>G (p.Ile194Met) c.318T>G (p.Ile106Met) c.411T>G (p.Ile137Met) c.462T>G (p.Ile154Met) | |
17 | g.81934965A>G | CA502426383 | PYCR1 | c.501T>C (p.Ile167=) c.582T>C (p.Ile194=) c.318T>C (p.Ile106=) c.411T>C (p.Ile137=) c.462T>C (p.Ile154=) | |
17 | g.81934965A>T | CA502426384 | PYCR1 | c.501T>A (p.Ile167=) c.582T>A (p.Ile194=) c.318T>A (p.Ile106=) c.411T>A (p.Ile137=) c.462T>A (p.Ile154=) | |
17 | g.81934966A= | CA2278749790 | PYCR1 | c.500T= (p.Ile167=) c.581T= (p.Ile194=) c.317T= (p.Ile106=) c.410T= (p.Ile137=) c.461T= (p.Ile154=) | |
17 | g.81934966A>C | CA401538264 | PYCR1 | c.500T>G (p.Ile167Ser) c.581T>G (p.Ile194Ser) c.317T>G (p.Ile106Ser) c.410T>G (p.Ile137Ser) c.461T>G (p.Ile154Ser) | |
17 | g.81934966A>G | CA8845429 | PYCR1 | c.500T>C (p.Ile167Thr) c.581T>C (p.Ile194Thr) c.317T>C (p.Ile106Thr) c.410T>C (p.Ile137Thr) c.461T>C (p.Ile154Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934966A>T | CA401538267 | PYCR1 | c.500T>A (p.Ile167Asn) c.581T>A (p.Ile194Asn) c.317T>A (p.Ile106Asn) c.410T>A (p.Ile137Asn) c.461T>A (p.Ile154Asn) | |
17 | g.81934967T>A | CA401538269 | PYCR1 | c.499A>T (p.Ile167Phe) c.580A>T (p.Ile194Phe) c.316A>T (p.Ile106Phe) c.409A>T (p.Ile137Phe) c.460A>T (p.Ile154Phe) | |
17 | g.81934967T>C | CA401538271 | PYCR1 | c.499A>G (p.Ile167Val) c.580A>G (p.Ile194Val) c.316A>G (p.Ile106Val) c.409A>G (p.Ile137Val) c.460A>G (p.Ile154Val) | |
17 | g.81934967T>G | CA401538272 | PYCR1 | c.499A>C (p.Ile167Leu) c.580A>C (p.Ile194Leu) c.316A>C (p.Ile106Leu) c.409A>C (p.Ile137Leu) c.460A>C (p.Ile154Leu) | |
17 | g.81934968C>A | CA502426386 | PYCR1 | c.498G>T (p.Leu166=) c.579G>T (p.Leu193=) c.315G>T (p.Leu105=) c.408G>T (p.Leu136=) c.459G>T (p.Leu153=) | |
17 | g.81934968C>G | CA502426387 | PYCR1 | c.498G>C (p.Leu166=) c.579G>C (p.Leu193=) c.315G>C (p.Leu105=) c.408G>C (p.Leu136=) c.459G>C (p.Leu153=) | |
17 | g.81934968C>T | CA502426388 | PYCR1 | c.498G>A (p.Leu166=) c.579G>A (p.Leu193=) c.315G>A (p.Leu105=) c.408G>A (p.Leu136=) c.459G>A (p.Leu153=) | COSMIC COSMIC |
17 | g.81934969A= | CA2278749791 | PYCR1 | c.497T= (p.Leu166=) c.578T= (p.Leu193=) c.314T= (p.Leu105=) c.407T= (p.Leu136=) c.458T= (p.Leu153=) | |
17 | g.81934969A>C | CA401538274 | PYCR1 | c.497T>G (p.Leu166Arg) c.578T>G (p.Leu193Arg) c.314T>G (p.Leu105Arg) c.407T>G (p.Leu136Arg) c.458T>G (p.Leu153Arg) | dbSNP gnomAD v4 |
17 | g.81934969A>G | CA401538276 | PYCR1 | c.497T>C (p.Leu166Pro) c.578T>C (p.Leu193Pro) c.314T>C (p.Leu105Pro) c.407T>C (p.Leu136Pro) c.458T>C (p.Leu153Pro) | |
17 | g.81934969A>T | CA401538279 | PYCR1 | c.497T>A (p.Leu166Gln) c.578T>A (p.Leu193Gln) c.314T>A (p.Leu105Gln) c.407T>A (p.Leu136Gln) c.458T>A (p.Leu153Gln) | |
17 | g.81934970G>A | CA502426389 | PYCR1 | c.496C>T (p.Leu166=) c.577C>T (p.Leu193=) c.313C>T (p.Leu105=) c.406C>T (p.Leu136=) c.457C>T (p.Leu153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.81934970G>C | CA8845430 | PYCR1 | c.496C>G (p.Leu166Val) c.577C>G (p.Leu193Val) c.313C>G (p.Leu105Val) c.406C>G (p.Leu136Val) c.457C>G (p.Leu153Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934970G= | CA2278749792 | PYCR1 | c.496C= (p.Leu166=) c.577C= (p.Leu193=) c.313C= (p.Leu105=) c.406C= (p.Leu136=) c.457C= (p.Leu153=) | |
17 | g.81934970G>T | CA401538287 | PYCR1 | c.496C>A (p.Leu166Met) c.577C>A (p.Leu193Met) c.313C>A (p.Leu105Met) c.406C>A (p.Leu136Met) c.457C>A (p.Leu153Met) | |
17 | g.81934971G>A | CA502426391 | PYCR1 | c.495C>T (p.Asp165=) c.576C>T (p.Asp192=) c.312C>T (p.Asp104=) c.405C>T (p.Asp135=) c.456C>T (p.Asp152=) | gnomAD v4 COSMIC COSMIC |
17 | g.81934971G>C | CA401538291 | PYCR1 | c.495C>G (p.Asp165Glu) c.576C>G (p.Asp192Glu) c.312C>G (p.Asp104Glu) c.405C>G (p.Asp135Glu) c.456C>G (p.Asp152Glu) | |
17 | g.81934971G= | CA2278749793 | PYCR1 | c.495C= (p.Asp165=) c.576C= (p.Asp192=) c.312C= (p.Asp104=) c.405C= (p.Asp135=) c.456C= (p.Asp152=) | |
17 | g.81934971G>T | CA8845431 | PYCR1 | c.495C>A (p.Asp165Glu) c.576C>A (p.Asp192Glu) c.312C>A (p.Asp104Glu) c.405C>A (p.Asp135Glu) c.456C>A (p.Asp152Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934972T>A | CA401538295 | PYCR1 | c.494A>T (p.Asp165Val) c.575A>T (p.Asp192Val) c.311A>T (p.Asp104Val) c.404A>T (p.Asp135Val) c.455A>T (p.Asp152Val) | COSMIC COSMIC |
17 | g.81934972T>C | CA401538296 | PYCR1 | c.494A>G (p.Asp165Gly) c.575A>G (p.Asp192Gly) c.311A>G (p.Asp104Gly) c.404A>G (p.Asp135Gly) c.455A>G (p.Asp152Gly) | |
17 | g.81934972T>G | CA401538298 | PYCR1 | c.494A>C (p.Asp165Ala) c.575A>C (p.Asp192Ala) c.311A>C (p.Asp104Ala) c.404A>C (p.Asp135Ala) c.455A>C (p.Asp152Ala) | |
17 | g.81934973C>A | CA401538301 | PYCR1 | c.493G>T (p.Asp165Tyr) c.574G>T (p.Asp192Tyr) c.310G>T (p.Asp104Tyr) c.403G>T (p.Asp135Tyr) c.454G>T (p.Asp152Tyr) | |
17 | g.81934973C>G | CA401538304 | PYCR1 | c.493G>C (p.Asp165His) c.574G>C (p.Asp192His) c.310G>C (p.Asp104His) c.403G>C (p.Asp135His) c.454G>C (p.Asp152His) | |
17 | g.81934973C>T | CA401538306 | PYCR1 | c.493G>A (p.Asp165Asn) c.574G>A (p.Asp192Asn) c.310G>A (p.Asp104Asn) c.403G>A (p.Asp135Asn) c.454G>A (p.Asp152Asn) | |
17 | g.81934974C>A | CA401538309 | PYCR1 | c.492G>T (p.Glu164Asp) c.573G>T (p.Glu191Asp) c.309G>T (p.Glu103Asp) c.402G>T (p.Glu134Asp) c.453G>T (p.Glu151Asp) | |
17 | g.81934974C= | CA2278749794 | PYCR1 | c.492G= (p.Glu164=) c.573G= (p.Glu191=) c.309G= (p.Glu103=) c.402G= (p.Glu134=) c.453G= (p.Glu151=) | |
17 | g.81934974C>G | CA295137744 | PYCR1 | c.492G>C (p.Glu164Asp) c.573G>C (p.Glu191Asp) c.309G>C (p.Glu103Asp) c.402G>C (p.Glu134Asp) c.453G>C (p.Glu151Asp) | dbSNP |
17 | g.81934974C>T | CA502426398 | PYCR1 | c.492G>A (p.Glu164=) c.573G>A (p.Glu191=) c.309G>A (p.Glu103=) c.402G>A (p.Glu134=) c.453G>A (p.Glu151=) | |
17 | g.81934975T>A | CA401538311 | PYCR1 | c.491A>T (p.Glu164Val) c.572A>T (p.Glu191Val) c.308A>T (p.Glu103Val) c.401A>T (p.Glu134Val) c.452A>T (p.Glu151Val) | |
17 | g.81934975T>C | CA401538313 | PYCR1 | c.491A>G (p.Glu164Gly) c.572A>G (p.Glu191Gly) c.308A>G (p.Glu103Gly) c.401A>G (p.Glu134Gly) c.452A>G (p.Glu151Gly) | |
17 | g.81934975T>G | CA401538314 | PYCR1 | c.491A>C (p.Glu164Ala) c.572A>C (p.Glu191Ala) c.308A>C (p.Glu103Ala) c.401A>C (p.Glu134Ala) c.452A>C (p.Glu151Ala) | |
17 | g.81934976C>A | CA401538318 | PYCR1 | c.490G>T (p.Glu164Ter) c.571G>T (p.Glu191Ter) c.307G>T (p.Glu103Ter) c.400G>T (p.Glu134Ter) c.451G>T (p.Glu151Ter) | |
17 | g.81934976C>G | CA401538316 | PYCR1 | c.490G>C (p.Glu164Gln) c.571G>C (p.Glu191Gln) c.307G>C (p.Glu103Gln) c.400G>C (p.Glu134Gln) c.451G>C (p.Glu151Gln) | |
17 | g.81934976C>T | CA401538315 | PYCR1 | c.490G>A (p.Glu164Lys) c.571G>A (p.Glu191Lys) c.307G>A (p.Glu103Lys) c.400G>A (p.Glu134Lys) c.451G>A (p.Glu151Lys) | |
17 | g.81934977T>A | CA401538320 | PYCR1 | c.489A>T (p.Glu163Asp) c.570A>T (p.Glu190Asp) c.306A>T (p.Glu102Asp) c.399A>T (p.Glu133Asp) c.450A>T (p.Glu150Asp) | |
17 | g.81934977T>C | CA502426401 | PYCR1 | c.489A>G (p.Glu163=) c.570A>G (p.Glu190=) c.306A>G (p.Glu102=) c.399A>G (p.Glu133=) c.450A>G (p.Glu150=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934977T>G | CA401538322 | PYCR1 | c.489A>C (p.Glu163Asp) c.570A>C (p.Glu190Asp) c.306A>C (p.Glu102Asp) c.399A>C (p.Glu133Asp) c.450A>C (p.Glu150Asp) | |
17 | g.81934977T= | CA2278749795 | PYCR1 | c.489A= (p.Glu163=) c.570A= (p.Glu190=) c.306A= (p.Glu102=) c.399A= (p.Glu133=) c.450A= (p.Glu150=) | |
17 | g.81934978T>A | CA401538323 | PYCR1 | c.488A>T (p.Glu163Val) c.569A>T (p.Glu190Val) c.305A>T (p.Glu102Val) c.398A>T (p.Glu133Val) c.449A>T (p.Glu150Val) | |
17 | g.81934978T>C | CA401538324 | PYCR1 | c.488A>G (p.Glu163Gly) c.569A>G (p.Glu190Gly) c.305A>G (p.Glu102Gly) c.398A>G (p.Glu133Gly) c.449A>G (p.Glu150Gly) | |
17 | g.81934978T>G | CA401538326 | PYCR1 | c.488A>C (p.Glu163Ala) c.569A>C (p.Glu190Ala) c.305A>C (p.Glu102Ala) c.398A>C (p.Glu133Ala) c.449A>C (p.Glu150Ala) | |
17 | g.81934979C>A | CA401538327 | PYCR1 | c.487G>T (p.Glu163Ter) c.568G>T (p.Glu190Ter) c.304G>T (p.Glu102Ter) c.397G>T (p.Glu133Ter) c.448G>T (p.Glu150Ter) | |
17 | g.81934979C>G | CA401538330 | PYCR1 | c.487G>C (p.Glu163Gln) c.568G>C (p.Glu190Gln) c.304G>C (p.Glu102Gln) c.397G>C (p.Glu133Gln) c.448G>C (p.Glu150Gln) | |
17 | g.81934979C>T | CA401538332 | PYCR1 | c.487G>A (p.Glu163Lys) c.568G>A (p.Glu190Lys) c.304G>A (p.Glu102Lys) c.397G>A (p.Glu133Lys) c.448G>A (p.Glu150Lys) | |
17 | g.81934980C>A | CA502426407 | PYCR1 | c.486G>T (p.Val162=) c.567G>T (p.Val189=) c.303G>T (p.Val101=) c.396G>T (p.Val132=) c.447G>T (p.Val149=) | |
17 | g.81934980C= | CA2278749796 | PYCR1 | c.486G= (p.Val162=) c.567G= (p.Val189=) c.303G= (p.Val101=) c.396G= (p.Val132=) c.447G= (p.Val149=) | |
17 | g.81934980C>G | CA502426406 | PYCR1 | c.486G>C (p.Val162=) c.567G>C (p.Val189=) c.303G>C (p.Val101=) c.396G>C (p.Val132=) c.447G>C (p.Val149=) | |
17 | g.81934980C>T | CA8845432 | PYCR1 | c.486G>A (p.Val162=) c.567G>A (p.Val189=) c.303G>A (p.Val101=) c.396G>A (p.Val132=) c.447G>A (p.Val149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934981A>C | CA401538337 | PYCR1 | c.485T>G (p.Val162Gly) c.566T>G (p.Val189Gly) c.302T>G (p.Val101Gly) c.395T>G (p.Val132Gly) c.446T>G (p.Val149Gly) | |
17 | g.81934981A>G | CA401538339 | PYCR1 | c.485T>C (p.Val162Ala) c.566T>C (p.Val189Ala) c.302T>C (p.Val101Ala) c.395T>C (p.Val132Ala) c.446T>C (p.Val149Ala) | |
17 | g.81934981A>T | CA401538340 | PYCR1 | c.485T>A (p.Val162Glu) c.566T>A (p.Val189Glu) c.302T>A (p.Val101Glu) c.395T>A (p.Val132Glu) c.446T>A (p.Val149Glu) | |
17 | g.81934982C>A | CA401538345 | PYCR1 | c.484G>T (p.Val162Leu) c.565G>T (p.Val189Leu) c.301G>T (p.Val101Leu) c.394G>T (p.Val132Leu) c.445G>T (p.Val149Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.81934982C= | CA2278749797 | PYCR1 | c.484G= (p.Val162=) c.565G= (p.Val189=) c.301G= (p.Val101=) c.394G= (p.Val132=) c.445G= (p.Val149=) | |
17 | g.81934982C>G | CA401538344 | PYCR1 | c.484G>C (p.Val162Leu) c.565G>C (p.Val189Leu) c.301G>C (p.Val101Leu) c.394G>C (p.Val132Leu) c.445G>C (p.Val149Leu) | |
17 | g.81934982C>T | CA295137745 | PYCR1 | c.484G>A (p.Val162Met) c.565G>A (p.Val189Met) c.301G>A (p.Val101Met) c.394G>A (p.Val132Met) c.445G>A (p.Val149Met) | dbSNP gnomAD v4 |
17 | g.81934983C>A | CA401538347 | PYCR1 | c.483G>T (p.Glu161Asp) c.564G>T (p.Glu188Asp) c.300G>T (p.Glu100Asp) c.393G>T (p.Glu131Asp) c.444G>T (p.Glu148Asp) | |
17 | g.81934983C= | CA2278749798 | PYCR1 | c.483G= (p.Glu161=) c.564G= (p.Glu188=) c.300G= (p.Glu100=) c.393G= (p.Glu131=) c.444G= (p.Glu148=) | |
17 | g.81934983C>G | CA8845433 | PYCR1 | c.483G>C (p.Glu161Asp) c.564G>C (p.Glu188Asp) c.300G>C (p.Glu100Asp) c.393G>C (p.Glu131Asp) c.444G>C (p.Glu148Asp) | dbSNP ExAC gnomAD v2 |
17 | g.81934983C>T | CA502426409 | PYCR1 | c.483G>A (p.Glu161=) c.564G>A (p.Glu188=) c.300G>A (p.Glu100=) c.393G>A (p.Glu131=) c.444G>A (p.Glu148=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934984T>A | CA401538352 | PYCR1 | c.482A>T (p.Glu161Val) c.563A>T (p.Glu188Val) c.299A>T (p.Glu100Val) c.392A>T (p.Glu131Val) c.443A>T (p.Glu148Val) | |
17 | g.81934984T>C | CA401538354 | PYCR1 | c.482A>G (p.Glu161Gly) c.563A>G (p.Glu188Gly) c.299A>G (p.Glu100Gly) c.392A>G (p.Glu131Gly) c.443A>G (p.Glu148Gly) | gnomAD v4 |
17 | g.81934984T>G | CA401538361 | PYCR1 | c.482A>C (p.Glu161Ala) c.563A>C (p.Glu188Ala) c.299A>C (p.Glu100Ala) c.392A>C (p.Glu131Ala) c.443A>C (p.Glu148Ala) | |
17 | g.81934985C>A | CA401538364 | PYCR1 | c.481G>T (p.Glu161Ter) c.562G>T (p.Glu188Ter) c.298G>T (p.Glu100Ter) c.391G>T (p.Glu131Ter) c.442G>T (p.Glu148Ter) | gnomAD v4 |
17 | g.81934985C>G | CA401538365 | PYCR1 | c.481G>C (p.Glu161Gln) c.562G>C (p.Glu188Gln) c.298G>C (p.Glu100Gln) c.391G>C (p.Glu131Gln) c.442G>C (p.Glu148Gln) | |
17 | g.81934985C>T | CA401538369 | PYCR1 | c.481G>A (p.Glu161Lys) c.562G>A (p.Glu188Lys) c.298G>A (p.Glu100Lys) c.391G>A (p.Glu131Lys) c.442G>A (p.Glu148Lys) | |
17 | g.81934986C>A | CA502426413 | PYCR1 | c.480G>T (p.Thr160=) c.561G>T (p.Thr187=) c.297G>T (p.Thr99=) c.390G>T (p.Thr130=) c.441G>T (p.Thr147=) | |
17 | g.81934986C= | CA2278749799 | PYCR1 | c.480G= (p.Thr160=) c.561G= (p.Thr187=) c.297G= (p.Thr99=) c.390G= (p.Thr130=) c.441G= (p.Thr147=) | |
17 | g.81934986C>G | CA502426414 | PYCR1 | c.480G>C (p.Thr160=) c.561G>C (p.Thr187=) c.297G>C (p.Thr99=) c.390G>C (p.Thr130=) c.441G>C (p.Thr147=) | ClinVar gnomAD v4 |
17 | g.81934986C>T | CA8845434 | PYCR1 | c.480G>A (p.Thr160=) c.561G>A (p.Thr187=) c.297G>A (p.Thr99=) c.390G>A (p.Thr130=) c.441G>A (p.Thr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934987G>A | CA8845435 | PYCR1 | c.479C>T (p.Thr160Met) c.560C>T (p.Thr187Met) c.296C>T (p.Thr99Met) c.389C>T (p.Thr130Met) c.440C>T (p.Thr147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81934987G>C | CA401538377 | PYCR1 | c.479C>G (p.Thr160Arg) c.560C>G (p.Thr187Arg) c.296C>G (p.Thr99Arg) c.389C>G (p.Thr130Arg) c.440C>G (p.Thr147Arg) | gnomAD v4 |
17 | g.81934987G= | CA2278749800 | PYCR1 | c.479C= (p.Thr160=) c.560C= (p.Thr187=) c.296C= (p.Thr99=) c.389C= (p.Thr130=) c.440C= (p.Thr147=) | |
17 | g.81934987G>T | CA401538381 | PYCR1 | c.479C>A (p.Thr160Lys) c.560C>A (p.Thr187Lys) c.296C>A (p.Thr99Lys) c.389C>A (p.Thr130Lys) c.440C>A (p.Thr147Lys) | gnomAD v4 |
17 | g.81934988T>A | CA401538391 | PYCR1 | c.478A>T (p.Thr160Ser) c.559A>T (p.Thr187Ser) c.295A>T (p.Thr99Ser) c.388A>T (p.Thr130Ser) c.439A>T (p.Thr147Ser) | |
17 | g.81934988T>C | CA8845436 | PYCR1 | c.478A>G (p.Thr160Ala) c.559A>G (p.Thr187Ala) c.295A>G (p.Thr99Ala) c.388A>G (p.Thr130Ala) c.439A>G (p.Thr147Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81934988T>G | CA401538386 | PYCR1 | c.478A>C (p.Thr160Pro) c.559A>C (p.Thr187Pro) c.295A>C (p.Thr99Pro) c.388A>C (p.Thr130Pro) c.439A>C (p.Thr147Pro) | |
17 | g.81934988T= | CA2278749801 | PYCR1 | c.478A= (p.Thr160=) c.559A= (p.Thr187=) c.295A= (p.Thr99=) c.388A= (p.Thr130=) c.439A= (p.Thr147=) | |
17 | g.81934989G>A | CA502426418 | PYCR1 | c.477C>T (p.Cys159=) c.558C>T (p.Cys186=) c.294C>T (p.Cys98=) c.387C>T (p.Cys129=) c.438C>T (p.Cys146=) | |
17 | g.81934989G>C | CA401538395 | PYCR1 | c.477C>G (p.Cys159Trp) c.558C>G (p.Cys186Trp) c.294C>G (p.Cys98Trp) c.387C>G (p.Cys129Trp) c.438C>G (p.Cys146Trp) | |
17 | g.81934989G= | CA2278749802 | PYCR1 | c.477C= (p.Cys159=) c.558C= (p.Cys186=) c.294C= (p.Cys98=) c.387C= (p.Cys129=) c.438C= (p.Cys146=) | |
17 | g.81934989G>T | CA401538397 | PYCR1 | c.477C>A (p.Cys159Ter) c.558C>A (p.Cys186Ter) c.294C>A (p.Cys98Ter) c.387C>A (p.Cys129Ter) c.438C>A (p.Cys146Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81934990C>A | CA401538409 | PYCR1 | c.476G>T (p.Cys159Phe) c.557G>T (p.Cys186Phe) c.293G>T (p.Cys98Phe) c.386G>T (p.Cys129Phe) c.437G>T (p.Cys146Phe) | |
17 | g.81934990C>G | CA401538411 | PYCR1 | c.476G>C (p.Cys159Ser) c.557G>C (p.Cys186Ser) c.293G>C (p.Cys98Ser) c.386G>C (p.Cys129Ser) c.437G>C (p.Cys146Ser) | |
17 | g.81934990C>T | CA401538417 | PYCR1 | c.476G>A (p.Cys159Tyr) c.557G>A (p.Cys186Tyr) c.293G>A (p.Cys98Tyr) c.386G>A (p.Cys129Tyr) c.437G>A (p.Cys146Tyr) | |
17 | g.81934991A>C | CA401538420 | PYCR1 | c.475T>G (p.Cys159Gly) c.556T>G (p.Cys186Gly) c.292T>G (p.Cys98Gly) c.385T>G (p.Cys129Gly) c.436T>G (p.Cys146Gly) | |
17 | g.81934991A>G | CA401538422 | PYCR1 | c.475T>C (p.Cys159Arg) c.556T>C (p.Cys186Arg) c.292T>C (p.Cys98Arg) c.385T>C (p.Cys129Arg) c.436T>C (p.Cys146Arg) | |
17 | g.81934991A>T | CA401538424 | PYCR1 | c.475T>A (p.Cys159Ser) c.556T>A (p.Cys186Ser) c.292T>A (p.Cys98Ser) c.385T>A (p.Cys129Ser) c.436T>A (p.Cys146Ser) | |
17 | g.81934992G>A | CA502426427 | PYCR1 | c.474C>T (p.Phe158=) c.555C>T (p.Phe185=) c.291C>T (p.Phe97=) c.384C>T (p.Phe128=) c.435C>T (p.Phe145=) | |
17 | g.81934992G>C | CA401538432 | PYCR1 | c.474C>G (p.Phe158Leu) c.555C>G (p.Phe185Leu) c.291C>G (p.Phe97Leu) c.384C>G (p.Phe128Leu) c.435C>G (p.Phe145Leu) | |
17 | g.81934992G>T | CA401538428 | PYCR1 | c.474C>A (p.Phe158Leu) c.555C>A (p.Phe185Leu) c.291C>A (p.Phe97Leu) c.384C>A (p.Phe128Leu) c.435C>A (p.Phe145Leu) | gnomAD v4 |
17 | g.81934993A>C | CA401538435 | PYCR1 | c.473T>G (p.Phe158Cys) c.554T>G (p.Phe185Cys) c.290T>G (p.Phe97Cys) c.383T>G (p.Phe128Cys) c.434T>G (p.Phe145Cys) | |
17 | g.81934993A>G | CA401538438 | PYCR1 | c.473T>C (p.Phe158Ser) c.554T>C (p.Phe185Ser) c.290T>C (p.Phe97Ser) c.383T>C (p.Phe128Ser) c.434T>C (p.Phe145Ser) | |
17 | g.81934993A>T | CA401538441 | PYCR1 | c.473T>A (p.Phe158Tyr) c.554T>A (p.Phe185Tyr) c.290T>A (p.Phe97Tyr) c.383T>A (p.Phe128Tyr) c.434T>A (p.Phe145Tyr) | |
17 | g.81934994A>C | CA401538445 | PYCR1 | c.472T>G (p.Phe158Val) c.553T>G (p.Phe185Val) c.289T>G (p.Phe97Val) c.382T>G (p.Phe128Val) c.433T>G (p.Phe145Val) | |
17 | g.81934994A>G | CA401538447 | PYCR1 | c.472T>C (p.Phe158Leu) c.553T>C (p.Phe185Leu) c.289T>C (p.Phe97Leu) c.382T>C (p.Phe128Leu) c.433T>C (p.Phe145Leu) | |
17 | g.81934994A>T | CA401538450 | PYCR1 | c.472T>A (p.Phe158Ile) c.553T>A (p.Phe185Ile) c.289T>A (p.Phe97Ile) c.382T>A (p.Phe128Ile) c.433T>A (p.Phe145Ile) | |
17 | g.81934995G>A | CA502426429 | PYCR1 | c.471C>T (p.Gly157=) c.552C>T (p.Gly184=) c.288C>T (p.Gly96=) c.381C>T (p.Gly127=) c.432C>T (p.Gly144=) | gnomAD v4 |
17 | g.81934995G>C | CA502426430 | PYCR1 | c.471C>G (p.Gly157=) c.552C>G (p.Gly184=) c.288C>G (p.Gly96=) c.381C>G (p.Gly127=) c.432C>G (p.Gly144=) | |
17 | g.81934995G>T | CA502426431 | PYCR1 | c.471C>A (p.Gly157=) c.552C>A (p.Gly184=) c.288C>A (p.Gly96=) c.381C>A (p.Gly127=) c.432C>A (p.Gly144=) | gnomAD v4 |
17 | g.81934996C>A | CA401538459 | PYCR1 | c.470G>T (p.Gly157Val) c.551G>T (p.Gly184Val) c.287G>T (p.Gly96Val) c.380G>T (p.Gly127Val) c.431G>T (p.Gly144Val) | gnomAD v4 |
17 | g.81934996C>G | CA401538451 | PYCR1 | c.470G>C (p.Gly157Ala) c.551G>C (p.Gly184Ala) c.287G>C (p.Gly96Ala) c.380G>C (p.Gly127Ala) c.431G>C (p.Gly144Ala) | |
17 | g.81934996C>T | CA401538455 | PYCR1 | c.470G>A (p.Gly157Asp) c.551G>A (p.Gly184Asp) c.287G>A (p.Gly96Asp) c.380G>A (p.Gly127Asp) c.431G>A (p.Gly144Asp) | |
17 | g.81934997C>A | CA401538462 | PYCR1 | c.469G>T (p.Gly157Cys) c.550G>T (p.Gly184Cys) c.286G>T (p.Gly96Cys) c.379G>T (p.Gly127Cys) c.430G>T (p.Gly144Cys) | |
17 | g.81934997C>G | CA401538463 | PYCR1 | c.469G>C (p.Gly157Arg) c.550G>C (p.Gly184Arg) c.286G>C (p.Gly96Arg) c.379G>C (p.Gly127Arg) c.430G>C (p.Gly144Arg) | |
17 | g.81934997C>T | CA401538465 | PYCR1 | c.469G>A (p.Gly157Ser) c.550G>A (p.Gly184Ser) c.286G>A (p.Gly96Ser) c.379G>A (p.Gly127Ser) c.430G>A (p.Gly144Ser) | |
17 | g.81934998C>A | CA502426436 | PYCR1 | c.468G>T (p.Val156=) c.549G>T (p.Val183=) c.285G>T (p.Val95=) c.378G>T (p.Val126=) c.429G>T (p.Val143=) | gnomAD v4 |
17 | g.81934998C>G | CA502426437 | PYCR1 | c.468G>C (p.Val156=) c.549G>C (p.Val183=) c.285G>C (p.Val95=) c.378G>C (p.Val126=) c.429G>C (p.Val143=) | |
17 | g.81934998C>T | CA502426439 | PYCR1 | c.468G>A (p.Val156=) c.549G>A (p.Val183=) c.285G>A (p.Val95=) c.378G>A (p.Val126=) c.429G>A (p.Val143=) | gnomAD v4 |
17 | g.81934999A= | CA2278749803 | PYCR1 | c.467T= (p.Val156=) c.548T= (p.Val183=) c.284T= (p.Val95=) c.377T= (p.Val126=) c.428T= (p.Val143=) | |
17 | g.81934999A>C | CA401538471 | PYCR1 | c.467T>G (p.Val156Gly) c.548T>G (p.Val183Gly) c.284T>G (p.Val95Gly) c.377T>G (p.Val126Gly) c.428T>G (p.Val143Gly) | |
17 | g.81934999A>G | CA401538473 | PYCR1 | c.467T>C (p.Val156Ala) c.548T>C (p.Val183Ala) c.284T>C (p.Val95Ala) c.377T>C (p.Val126Ala) c.428T>C (p.Val143Ala) | dbSNP |
17 | g.81934999A>T | CA401538475 | PYCR1 | c.467T>A (p.Val156Glu) c.548T>A (p.Val183Glu) c.284T>A (p.Val95Glu) c.377T>A (p.Val126Glu) c.428T>A (p.Val143Glu) | |
17 | g.81935000C>A | CA401538480 | PYCR1 | c.466G>T (p.Val156Leu) c.547G>T (p.Val183Leu) c.283G>T (p.Val95Leu) c.376G>T (p.Val126Leu) c.427G>T (p.Val143Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.81935000C= | CA2278749804 | PYCR1 | c.466G= (p.Val156=) c.547G= (p.Val183=) c.283G= (p.Val95=) c.376G= (p.Val126=) c.427G= (p.Val143=) | |
17 | g.81935000C>G | CA401538483 | PYCR1 | c.466G>C (p.Val156Leu) c.547G>C (p.Val183Leu) c.283G>C (p.Val95Leu) c.376G>C (p.Val126Leu) c.427G>C (p.Val143Leu) | |
17 | g.81935000C>T | CA8845437 | PYCR1 | c.466G>A (p.Val156Met) c.547G>A (p.Val183Met) c.283G>A (p.Val95Met) c.376G>A (p.Val126Met) c.427G>A (p.Val143Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935000_81935014del | CA2576428654 | PYCR1 | c.452_466del (p.Gln151_Val156delinsLeu) c.533_547del (p.Gln178_Val183delinsLeu) c.269_283del (p.Gln90_Val95delinsLeu) c.362_376del (p.Gln121_Val126delinsLeu) c.413_427del (p.Gln138_Val143delinsLeu) | |
17 | g.81935001G>A | CA8845438 | PYCR1 | c.465C>T (p.Ser155=) c.546C>T (p.Ser182=) c.282C>T (p.Ser94=) c.375C>T (p.Ser125=) c.426C>T (p.Ser142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935001G>C | CA8845439 | PYCR1 | c.465C>G (p.Ser155Arg) c.546C>G (p.Ser182Arg) c.282C>G (p.Ser94Arg) c.375C>G (p.Ser125Arg) c.426C>G (p.Ser142Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935001G= | CA2278749805 | PYCR1 | c.465C= (p.Ser155=) c.546C= (p.Ser182=) c.282C= (p.Ser94=) c.375C= (p.Ser125=) c.426C= (p.Ser142=) | |
17 | g.81935001G>T | CA401538490 | PYCR1 | c.465C>A (p.Ser155Arg) c.546C>A (p.Ser182Arg) c.282C>A (p.Ser94Arg) c.375C>A (p.Ser125Arg) c.426C>A (p.Ser142Arg) | gnomAD v4 |
17 | g.81935002C>A | CA401538492 | PYCR1 | c.464G>T (p.Ser155Ile) c.545G>T (p.Ser182Ile) c.281G>T (p.Ser94Ile) c.374G>T (p.Ser125Ile) c.425G>T (p.Ser142Ile) | |
17 | g.81935002C>G | CA401538497 | PYCR1 | c.464G>C (p.Ser155Thr) c.545G>C (p.Ser182Thr) c.281G>C (p.Ser94Thr) c.374G>C (p.Ser125Thr) c.425G>C (p.Ser142Thr) | |
17 | g.81935002C>T | CA401538495 | PYCR1 | c.464G>A (p.Ser155Asn) c.545G>A (p.Ser182Asn) c.281G>A (p.Ser94Asn) c.374G>A (p.Ser125Asn) c.425G>A (p.Ser142Asn) | |
17 | g.81935003T>A | CA401538502 | PYCR1 | c.463A>T (p.Ser155Cys) c.544A>T (p.Ser182Cys) c.280A>T (p.Ser94Cys) c.373A>T (p.Ser125Cys) c.424A>T (p.Ser142Cys) | |
17 | g.81935003T>C | CA401538504 | PYCR1 | c.463A>G (p.Ser155Gly) c.544A>G (p.Ser182Gly) c.280A>G (p.Ser94Gly) c.373A>G (p.Ser125Gly) c.424A>G (p.Ser142Gly) | |
17 | g.81935003T>G | CA401538507 | PYCR1 | c.463A>C (p.Ser155Arg) c.544A>C (p.Ser182Arg) c.280A>C (p.Ser94Arg) c.373A>C (p.Ser125Arg) c.424A>C (p.Ser142Arg) | |
17 | g.81935004G>A | CA502426445 | PYCR1 | c.462C>T (p.Ser154=) c.543C>T (p.Ser181=) c.279C>T (p.Ser93=) c.372C>T (p.Ser124=) c.423C>T (p.Ser141=) | dbSNP gnomAD v4 |
17 | g.81935004G>C | CA401538510 | PYCR1 | c.462C>G (p.Ser154Arg) c.543C>G (p.Ser181Arg) c.279C>G (p.Ser93Arg) c.372C>G (p.Ser124Arg) c.423C>G (p.Ser141Arg) | |
17 | g.81935004G= | CA2278749806 | PYCR1 | c.462C= (p.Ser154=) c.543C= (p.Ser181=) c.279C= (p.Ser93=) c.372C= (p.Ser124=) c.423C= (p.Ser141=) | |
17 | g.81935004G>T | CA401538514 | PYCR1 | c.462C>A (p.Ser154Arg) c.543C>A (p.Ser181Arg) c.279C>A (p.Ser93Arg) c.372C>A (p.Ser124Arg) c.423C>A (p.Ser141Arg) | |
17 | g.81935005C>A | CA401538518 | PYCR1 | c.461G>T (p.Ser154Ile) c.542G>T (p.Ser181Ile) c.278G>T (p.Ser93Ile) c.371G>T (p.Ser124Ile) c.422G>T (p.Ser141Ile) | |
17 | g.81935005C>G | CA401538520 | PYCR1 | c.461G>C (p.Ser154Thr) c.542G>C (p.Ser181Thr) c.278G>C (p.Ser93Thr) c.371G>C (p.Ser124Thr) c.422G>C (p.Ser141Thr) | |
17 | g.81935005C>T | CA401538523 | PYCR1 | c.461G>A (p.Ser154Asn) c.542G>A (p.Ser181Asn) c.278G>A (p.Ser93Asn) c.371G>A (p.Ser124Asn) c.422G>A (p.Ser141Asn) | |
17 | g.81935006T>A | CA401538529 | PYCR1 | c.460A>T (p.Ser154Cys) c.541A>T (p.Ser181Cys) c.277A>T (p.Ser93Cys) c.370A>T (p.Ser124Cys) c.421A>T (p.Ser141Cys) | |
17 | g.81935006T>C | CA401538530 | PYCR1 | c.460A>G (p.Ser154Gly) c.541A>G (p.Ser181Gly) c.277A>G (p.Ser93Gly) c.370A>G (p.Ser124Gly) c.421A>G (p.Ser141Gly) | |
17 | g.81935006T>G | CA401538533 | PYCR1 | c.460A>C (p.Ser154Arg) c.541A>C (p.Ser181Arg) c.277A>C (p.Ser93Arg) c.370A>C (p.Ser124Arg) c.421A>C (p.Ser141Arg) | |
17 | g.81935007C>A | CA502426453 | PYCR1 | c.459G>T (p.Leu153=) c.540G>T (p.Leu180=) c.276G>T (p.Leu92=) c.369G>T (p.Leu123=) c.420G>T (p.Leu140=) | |
17 | g.81935007C>G | CA502426454 | PYCR1 | c.459G>C (p.Leu153=) c.540G>C (p.Leu180=) c.276G>C (p.Leu92=) c.369G>C (p.Leu123=) c.420G>C (p.Leu140=) | |
17 | g.81935007C>T | CA502426456 | PYCR1 | c.459G>A (p.Leu153=) c.540G>A (p.Leu180=) c.276G>A (p.Leu92=) c.369G>A (p.Leu123=) c.420G>A (p.Leu140=) | |
17 | g.81935008A= | CA2278749807 | PYCR1 | c.458T= (p.Leu153=) c.539T= (p.Leu180=) c.275T= (p.Leu92=) c.368T= (p.Leu123=) c.419T= (p.Leu140=) | |
17 | g.81935008A>C | CA295137762 | PYCR1 | c.458T>G (p.Leu153Arg) c.539T>G (p.Leu180Arg) c.275T>G (p.Leu92Arg) c.368T>G (p.Leu123Arg) c.419T>G (p.Leu140Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.81935008A>G | CA401538541 | PYCR1 | c.458T>C (p.Leu153Pro) c.539T>C (p.Leu180Pro) c.275T>C (p.Leu92Pro) c.368T>C (p.Leu123Pro) c.419T>C (p.Leu140Pro) | gnomAD v4 |
17 | g.81935008A>T | CA401538539 | PYCR1 | c.458T>A (p.Leu153Gln) c.539T>A (p.Leu180Gln) c.275T>A (p.Leu92Gln) c.368T>A (p.Leu123Gln) c.419T>A (p.Leu140Gln) | |
17 | g.81935009G>A | CA502426459 | PYCR1 | c.457C>T (p.Leu153=) c.538C>T (p.Leu180=) c.274C>T (p.Leu92=) c.367C>T (p.Leu123=) c.418C>T (p.Leu140=) | |
17 | g.81935009G>C | CA401538546 | PYCR1 | c.457C>G (p.Leu153Val) c.538C>G (p.Leu180Val) c.274C>G (p.Leu92Val) c.367C>G (p.Leu123Val) c.418C>G (p.Leu140Val) | |
17 | g.81935009G>T | CA401538547 | PYCR1 | c.457C>A (p.Leu153Met) c.538C>A (p.Leu180Met) c.274C>A (p.Leu92Met) c.367C>A (p.Leu123Met) c.418C>A (p.Leu140Met) | gnomAD v4 |
17 | g.81935010C>A | CA502426463 | PYCR1 | c.456G>T (p.Leu152=) c.537G>T (p.Leu179=) c.273G>T (p.Leu91=) c.366G>T (p.Leu122=) c.417G>T (p.Leu139=) | gnomAD v4 |
17 | g.81935010C>G | CA502426464 | PYCR1 | c.456G>C (p.Leu152=) c.537G>C (p.Leu179=) c.273G>C (p.Leu91=) c.366G>C (p.Leu122=) c.417G>C (p.Leu139=) | |
17 | g.81935010C>T | CA502426465 | PYCR1 | c.456G>A (p.Leu152=) c.537G>A (p.Leu179=) c.273G>A (p.Leu91=) c.366G>A (p.Leu122=) c.417G>A (p.Leu139=) | gnomAD v4 |
17 | g.81935011A= | CA2278749808 | PYCR1 | c.455T= (p.Leu152=) c.536T= (p.Leu179=) c.272T= (p.Leu91=) c.365T= (p.Leu122=) c.416T= (p.Leu139=) | |
17 | g.81935011A>C | CA401538550 | PYCR1 | c.455T>G (p.Leu152Arg) c.536T>G (p.Leu179Arg) c.272T>G (p.Leu91Arg) c.365T>G (p.Leu122Arg) c.416T>G (p.Leu139Arg) | |
17 | g.81935011A>G | CA8845440 | PYCR1 | c.455T>C (p.Leu152Pro) c.536T>C (p.Leu179Pro) c.272T>C (p.Leu91Pro) c.365T>C (p.Leu122Pro) c.416T>C (p.Leu139Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.81935011A>T | CA401538555 | PYCR1 | c.455T>A (p.Leu152Gln) c.536T>A (p.Leu179Gln) c.272T>A (p.Leu91Gln) c.365T>A (p.Leu122Gln) c.416T>A (p.Leu139Gln) | |
17 | g.81935012G>A | CA502426467 | PYCR1 | c.454C>T (p.Leu152=) c.535C>T (p.Leu179=) c.271C>T (p.Leu91=) c.364C>T (p.Leu122=) c.415C>T (p.Leu139=) | |
17 | g.81935012G>C | CA401538559 | PYCR1 | c.454C>G (p.Leu152Val) c.535C>G (p.Leu179Val) c.271C>G (p.Leu91Val) c.364C>G (p.Leu122Val) c.415C>G (p.Leu139Val) | |
17 | g.81935012G>T | CA401538562 | PYCR1 | c.454C>A (p.Leu152Met) c.535C>A (p.Leu179Met) c.271C>A (p.Leu91Met) c.364C>A (p.Leu122Met) c.415C>A (p.Leu139Met) | |
17 | g.81935013C>A | CA401538564 | PYCR1 | c.453G>T (p.Gln151His) c.534G>T (p.Gln178His) c.270G>T (p.Gln90His) c.363G>T (p.Gln121His) c.414G>T (p.Gln138His) | gnomAD v4 |
17 | g.81935013C>G | CA401538568 | PYCR1 | c.453G>C (p.Gln151His) c.534G>C (p.Gln178His) c.270G>C (p.Gln90His) c.363G>C (p.Gln121His) c.414G>C (p.Gln138His) | gnomAD v4 |
17 | g.81935013C>T | CA502426471 | PYCR1 | c.453G>A (p.Gln151=) c.534G>A (p.Gln178=) c.270G>A (p.Gln90=) c.363G>A (p.Gln121=) c.414G>A (p.Gln138=) | |
17 | g.81935014T>A | CA401538569 | PYCR1 | c.452A>T (p.Gln151Leu) c.533A>T (p.Gln178Leu) c.269A>T (p.Gln90Leu) c.362A>T (p.Gln121Leu) c.413A>T (p.Gln138Leu) | |
17 | g.81935014T>C | CA401538572 | PYCR1 | c.452A>G (p.Gln151Arg) c.533A>G (p.Gln178Arg) c.269A>G (p.Gln90Arg) c.362A>G (p.Gln121Arg) c.413A>G (p.Gln138Arg) | |
17 | g.81935014T>G | CA401538576 | PYCR1 | c.452A>C (p.Gln151Pro) c.533A>C (p.Gln178Pro) c.269A>C (p.Gln90Pro) c.362A>C (p.Gln121Pro) c.413A>C (p.Gln138Pro) | |
17 | g.81935015G>A | CA401538580 | PYCR1 | c.451C>T (p.Gln151Ter) c.532C>T (p.Gln178Ter) c.268C>T (p.Gln90Ter) c.361C>T (p.Gln121Ter) c.412C>T (p.Gln138Ter) | gnomAD v4 |
17 | g.81935015G>C | CA401538582 | PYCR1 | c.451C>G (p.Gln151Glu) c.532C>G (p.Gln178Glu) c.268C>G (p.Gln90Glu) c.361C>G (p.Gln121Glu) c.412C>G (p.Gln138Glu) | |
17 | g.81935015G>T | CA401538578 | PYCR1 | c.451C>A (p.Gln151Lys) c.532C>A (p.Gln178Lys) c.268C>A (p.Gln90Lys) c.361C>A (p.Gln121Lys) c.412C>A (p.Gln138Lys) | gnomAD v4 |
17 | g.81935016C>A | CA401538587 | PYCR1 | c.450G>T (p.Glu150Asp) c.531G>T (p.Glu177Asp) c.267G>T (p.Glu89Asp) c.360G>T (p.Glu120Asp) c.411G>T (p.Glu137Asp) | |
17 | g.81935016C= | CA2278749809 | PYCR1 | c.450G= (p.Glu150=) c.531G= (p.Glu177=) c.267G= (p.Glu89=) c.360G= (p.Glu120=) c.411G= (p.Glu137=) | |
17 | g.81935016C>G | CA401538584 | PYCR1 | c.450G>C (p.Glu150Asp) c.531G>C (p.Glu177Asp) c.267G>C (p.Glu89Asp) c.360G>C (p.Glu120Asp) c.411G>C (p.Glu137Asp) | |
17 | g.81935016C>T | CA502426473 | PYCR1 | c.450G>A (p.Glu150=) c.531G>A (p.Glu177=) c.267G>A (p.Glu89=) c.360G>A (p.Glu120=) c.411G>A (p.Glu137=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.81935017T>A | CA401538590 | PYCR1 | c.449A>T (p.Glu150Val) c.530A>T (p.Glu177Val) c.266A>T (p.Glu89Val) c.359A>T (p.Glu120Val) c.410A>T (p.Glu137Val) | |
17 | g.81935017T>C | CA401538592 | PYCR1 | c.449A>G (p.Glu150Gly) c.530A>G (p.Glu177Gly) c.266A>G (p.Glu89Gly) c.359A>G (p.Glu120Gly) c.410A>G (p.Glu137Gly) | |
17 | g.81935017T>G | CA401538596 | PYCR1 | c.449A>C (p.Glu150Ala) c.530A>C (p.Glu177Ala) c.266A>C (p.Glu89Ala) c.359A>C (p.Glu120Ala) c.410A>C (p.Glu137Ala) | |
17 | g.81935018C>A | CA401538603 | PYCR1 | c.448G>T (p.Glu150Ter) c.529G>T (p.Glu177Ter) c.265G>T (p.Glu89Ter) c.358G>T (p.Glu120Ter) c.409G>T (p.Glu137Ter) | |
17 | g.81935018C>G | CA401538605 | PYCR1 | c.448G>C (p.Glu150Gln) c.529G>C (p.Glu177Gln) c.265G>C (p.Glu89Gln) c.358G>C (p.Glu120Gln) c.409G>C (p.Glu137Gln) | |
17 | g.81935018C>T | CA401538608 | PYCR1 | c.448G>A (p.Glu150Lys) c.529G>A (p.Glu177Lys) c.265G>A (p.Glu89Lys) c.358G>A (p.Glu120Lys) c.409G>A (p.Glu137Lys) | |
17 | g.81935019C>A | CA401538611 | PYCR1 | c.447G>T (p.Met149Ile) c.528G>T (p.Met176Ile) c.264G>T (p.Met88Ile) c.357G>T (p.Met119Ile) c.408G>T (p.Met136Ile) | |
17 | g.81935019C>G | CA401538612 | PYCR1 | c.447G>C (p.Met149Ile) c.528G>C (p.Met176Ile) c.264G>C (p.Met88Ile) c.357G>C (p.Met119Ile) c.408G>C (p.Met136Ile) | |
17 | g.81935019C>T | CA401538613 | PYCR1 | c.447G>A (p.Met149Ile) c.528G>A (p.Met176Ile) c.264G>A (p.Met88Ile) c.357G>A (p.Met119Ile) c.408G>A (p.Met136Ile) | gnomAD v4 |
17 | g.81935020A= | CA2278749810 | PYCR1 | c.446T= (p.Met149=) c.527T= (p.Met176=) c.263T= (p.Met88=) c.356T= (p.Met119=) c.407T= (p.Met136=) | |
17 | g.81935020A>C | CA401538614 | PYCR1 | c.446T>G (p.Met149Arg) c.527T>G (p.Met176Arg) c.263T>G (p.Met88Arg) c.356T>G (p.Met119Arg) c.407T>G (p.Met136Arg) | |
17 | g.81935020A>G | CA401538615 | PYCR1 | c.446T>C (p.Met149Thr) c.527T>C (p.Met176Thr) c.263T>C (p.Met88Thr) c.356T>C (p.Met119Thr) c.407T>C (p.Met136Thr) | dbSNP gnomAD v4 |
17 | g.81935020A>T | CA401538616 | PYCR1 | c.446T>A (p.Met149Lys) c.527T>A (p.Met176Lys) c.263T>A (p.Met88Lys) c.356T>A (p.Met119Lys) c.407T>A (p.Met136Lys) | |
17 | g.81935021T>A | CA401538621 | PYCR1 | c.445A>T (p.Met149Leu) c.526A>T (p.Met176Leu) c.262A>T (p.Met88Leu) c.355A>T (p.Met119Leu) c.406A>T (p.Met136Leu) | |
17 | g.81935021T>C | CA401538619 | PYCR1 | c.445A>G (p.Met149Val) c.526A>G (p.Met176Val) c.262A>G (p.Met88Val) c.355A>G (p.Met119Val) c.406A>G (p.Met136Val) | dbSNP gnomAD v4 |
17 | g.81935021T>G | CA401538620 | PYCR1 | c.445A>C (p.Met149Leu) c.526A>C (p.Met176Leu) c.262A>C (p.Met88Leu) c.355A>C (p.Met119Leu) c.406A>C (p.Met136Leu) | |
17 | g.81935021T= | CA2278749811 | PYCR1 | c.445A= (p.Met149=) c.526A= (p.Met176=) c.262A= (p.Met88=) c.355A= (p.Met119=) c.406A= (p.Met136=) | |
17 | g.81935022G>A | CA502426482 | PYCR1 | c.444C>T (p.Leu148=) c.525C>T (p.Leu175=) c.261C>T (p.Leu87=) c.354C>T (p.Leu118=) c.405C>T (p.Leu135=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.81935022G>C | CA502426483 | PYCR1 | c.444C>G (p.Leu148=) c.525C>G (p.Leu175=) c.261C>G (p.Leu87=) c.354C>G (p.Leu118=) c.405C>G (p.Leu135=) | |
17 | g.81935022G= | CA2278749812 | PYCR1 | c.444C= (p.Leu148=) c.525C= (p.Leu175=) c.261C= (p.Leu87=) c.354C= (p.Leu118=) c.405C= (p.Leu135=) | |
17 | g.81935022G>T | CA502426484 | PYCR1 | c.444C>A (p.Leu148=) c.525C>A (p.Leu175=) c.261C>A (p.Leu87=) c.354C>A (p.Leu118=) c.405C>A (p.Leu135=) | gnomAD v4 |
17 | g.81935023A= | CA2278749813 | PYCR1 | c.443T= (p.Leu148=) c.524T= (p.Leu175=) c.260T= (p.Leu87=) c.353T= (p.Leu118=) c.404T= (p.Leu135=) | |
17 | g.81935023A>C | CA401538623 | PYCR1 | c.443T>G (p.Leu148Arg) c.524T>G (p.Leu175Arg) c.260T>G (p.Leu87Arg) c.353T>G (p.Leu118Arg) c.404T>G (p.Leu135Arg) | gnomAD v4 |
17 | g.81935023A>G | CA401538626 | PYCR1 | c.443T>C (p.Leu148Pro) c.524T>C (p.Leu175Pro) c.260T>C (p.Leu87Pro) c.353T>C (p.Leu118Pro) c.404T>C (p.Leu135Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.81935023A>T | CA401538629 | PYCR1 | c.443T>A (p.Leu148His) c.524T>A (p.Leu175His) c.260T>A (p.Leu87His) c.353T>A (p.Leu118His) c.404T>A (p.Leu135His) | |
17 | g.81935024G>A | CA8845441 | PYCR1 | c.442C>T (p.Leu148Phe) c.523C>T (p.Leu175Phe) c.259C>T (p.Leu87Phe) c.352C>T (p.Leu118Phe) c.403C>T (p.Leu135Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.81935024G>C | CA401538640 | PYCR1 | c.442C>G (p.Leu148Val) c.523C>G (p.Leu175Val) c.259C>G (p.Leu87Val) c.352C>G (p.Leu118Val) c.403C>G (p.Leu135Val) | |
17 | g.81935024G= | CA2278749814 | PYCR1 | c.442C= (p.Leu148=) c.523C= (p.Leu175=) c.259C= (p.Leu87=) c.352C= (p.Leu118=) c.403C= (p.Leu135=) | |
17 | g.81935024G>T | CA401538641 | PYCR1 | c.442C>A (p.Leu148Ile) c.523C>A (p.Leu175Ile) c.259C>A (p.Leu87Ile) c.352C>A (p.Leu118Ile) c.403C>A (p.Leu135Ile) | gnomAD v4 |