UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81933183_81933204del | CA2640545525 | PYCR1 | c.*13_*34del (n.*13_*34del) c.867+106_867+127del (n.867+106_867+127del) c.*155_*176del (n.*155_*176del) c.677_698del (n.677_698del) | gnomAD v4 |
| 17 | g.81933187_81933200dup | CA2640545526 | PYCR1 | c.*20_*33dup (n.*20_*33dup) c.867+113_867+126dup (n.867+113_867+126dup) c.*162_*175dup (n.*162_*175dup) c.684_697dup (n.684_697dup) | gnomAD v4 |
| 17 | g.81933184G>A | CA628025187 | PYCR1 | c.*30C>T (n.*30C>T) c.867+123C>T (n.867+123C>T) c.*172C>T (n.*172C>T) c.694C>T (n.694C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933184G= | CA2278748857 | PYCR1 | c.*30C= (n.*30C=) c.867+123C= (n.867+123C=) c.*172C= (n.*172C=) c.694C= (n.694C=) | |
| 17 | g.81933184G>T | CA2640545530 | PYCR1 | c.*30C>A (n.*30C>A) c.867+123C>A (n.867+123C>A) c.*172C>A (n.*172C>A) c.694C>A (n.694C>A) | gnomAD v4 |
| 17 | g.81933185G>A | CA2640545531 | PYCR1 | c.*29C>T (n.*29C>T) c.867+122C>T (n.867+122C>T) c.*171C>T (n.*171C>T) c.693C>T (n.693C>T) | gnomAD v4 |
| 17 | g.81933186_81933202delinsTGGCAGGATGGTGGTCA | CA2278748858 | PYCR1 | c.*12_*28delinsTGACCACCATCCTGCCA (n.*12_*28delinsTGACCACCATCCTGCCA) c.867+105_867+121delinsTGACCACCATCCTGCCA (n.867+105_867+121delinsTGACCACCATCCTGCCA) c.*154_*170delinsTGACCACCATCCTGCCA (n.*154_*170delinsTGACCACCATCCTGCCA) c.676_692delinsTGACCACCATCCTGCCA (n.676_692delinsTGACCACCATCCTGCCA) | |
| 17 | g.81933187G>A | CA2640545532 | PYCR1 | c.*27C>T (n.*27C>T) c.867+120C>T (n.867+120C>T) c.*169C>T (n.*169C>T) c.691C>T (n.691C>T) | gnomAD v4 |
| 17 | g.81933194_81933209del | CA628025189 | PYCR1 | c.*12_*27del (n.*12_*27del) c.867+105_867+120del (n.867+105_867+120del) c.*154_*169del (n.*154_*169del) c.676_691del (n.676_691del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933188G>A | CA2576428582 | PYCR1 | c.*26C>T (n.*26C>T) c.867+119C>T (n.867+119C>T) c.*168C>T (n.*168C>T) c.690C>T (n.690C>T) | gnomAD v4 |
| 17 | g.81933191G>A | CA8845215 | PYCR1 | c.*23C>T (n.*23C>T) c.867+116C>T (n.867+116C>T) c.*165C>T (n.*165C>T) c.687C>T (n.687C>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.81933191G= | CA2278748859 | PYCR1 | c.*23C= (n.*23C=) c.867+116C= (n.867+116C=) c.*165C= (n.*165C=) c.687C= (n.687C=) | |
| 17 | g.81933192G>A | CA8845216 | PYCR1 | c.*22C>T (n.*22C>T) c.867+115C>T (n.867+115C>T) c.*164C>T (n.*164C>T) c.686C>T (n.686C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933192G= | CA2278748860 | PYCR1 | c.*22C= (n.*22C=) c.867+115C= (n.867+115C=) c.*164C= (n.*164C=) c.686C= (n.686C=) | |
| 17 | g.81933194T>C | CA2278748862 | PYCR1 | c.*20A>G (n.*20A>G) c.867+113A>G (n.867+113A>G) c.*162A>G (n.*162A>G) c.684A>G (n.684A>G) | dbSNP gnomAD v4 |
| 17 | g.81933194T= | CA2278748861 | PYCR1 | c.*20A= (n.*20A=) c.867+113A= (n.867+113A=) c.*162A= (n.*162A=) c.684A= (n.684A=) | |
| 17 | g.81933198_81933200del | CA2640545533 | PYCR1 | c.*18_*20del (n.*18_*20del) c.867+111_867+113del (n.867+111_867+113del) c.*160_*162del (n.*160_*162del) c.682_684del (n.682_684del) | gnomAD v4 |
| 17 | g.81933197T>G | CA2278748865 | PYCR1 | c.*17A>C (n.*17A>C) c.867+110A>C (n.867+110A>C) c.*159A>C (n.*159A>C) c.681A>C (n.681A>C) | dbSNP |
| 17 | g.81933197T= | CA2278748864 | PYCR1 | c.*17A= (n.*17A=) c.867+110A= (n.867+110A=) c.*159A= (n.*159A=) c.681A= (n.681A=) | |
| 17 | g.81933197_81933198delinsTG | CA2278748863 | PYCR1 | c.*16_*17delinsCA (n.*16_*17delinsCA) c.867+109_867+110delinsCA (n.867+109_867+110delinsCA) c.*158_*159delinsCA (n.*158_*159delinsCA) c.680_681delinsCA (n.680_681delinsCA) | |
| 17 | g.81933198G>A | CA775690042 | PYCR1 | c.*16C>T (n.*16C>T) c.867+109C>T (n.867+109C>T) c.*158C>T (n.*158C>T) c.680C>T (n.680C>T) | dbSNP |
| 17 | g.81933198G= | CA2278748866 | PYCR1 | c.*16C= (n.*16C=) c.867+109C= (n.867+109C=) c.*158C= (n.*158C=) c.680C= (n.680C=) | |
| 17 | g.81933199del | CA8845217 | PYCR1 | c.*16del (n.*16del) c.867+109del (n.867+109del) c.*158del (n.*158del) c.680del (n.680del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933201C>G | CA656896684 | PYCR1 | c.*13G>C (n.*13G>C) c.867+106G>C (n.867+106G>C) c.*155G>C (n.*155G>C) c.677G>C (n.677G>C) | COSMIC |
| 17 | g.81933201C>T | CA2640545534 | PYCR1 | c.*13G>A (n.*13G>A) c.867+106G>A (n.867+106G>A) c.*155G>A (n.*155G>A) c.677G>A (n.677G>A) | gnomAD v4 |
| 17 | g.81933202A= | CA2278748867 | PYCR1 | c.*12T= (n.*12T=) c.867+105T= (n.867+105T=) c.*154T= (n.*154T=) c.676T= (n.676T=) | |
| 17 | g.81933202A>G | CA8845218 | PYCR1 | c.*12T>C (n.*12T>C) c.867+105T>C (n.867+105T>C) c.*154T>C (n.*154T>C) c.676T>C (n.676T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933203G>A | CA628025191 | PYCR1 | c.*11C>T (n.*11C>T) c.867+104C>T (n.867+104C>T) c.*153C>T (n.*153C>T) c.675C>T (n.675C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933203G= | CA2278748868 | PYCR1 | c.*11C= (n.*11C=) c.867+104C= (n.867+104C=) c.*153C= (n.*153C=) c.675C= (n.675C=) | |
| 17 | g.81933204G>A | CA628025193 | PYCR1 | c.*10C>T (n.*10C>T) c.867+103C>T (n.867+103C>T) c.*152C>T (n.*152C>T) c.674C>T (n.674C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933204G= | CA2278748869 | PYCR1 | c.*10C= (n.*10C=) c.867+103C= (n.867+103C=) c.*152C= (n.*152C=) c.674C= (n.674C=) | |
| 17 | g.81933205_81933206insCGCACAAACGACCCCATTTGGTTTCGCCTGAAGAC | CA2810645852 | PYCR1 | c.*9_*10insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG (n.*9_*10insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG) c.867+102_867+103insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG (n.867+102_867+103insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG) c.*151_*152insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG (n.*151_*152insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG) c.673_674insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG (n.673_674insTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCGG) | |
| 17 | g.81933205_81933206insCGCACAAACGACCCCATTTGGTTTCGCCTGAAGACAGGAATTGGTCGAT | CA2810645854 | PYCR1 | c.*8_*9insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG (n.*8_*9insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG) c.867+101_867+102insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG (n.867+101_867+102insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG) c.*150_*151insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG (n.*150_*151insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG) c.672_673insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG (n.672_673insATCGACCAATTCCTGTCTTCAGGCGAAACCAAATGGGGTCGTTTGTGCG) | |
| 17 | g.81933208G>T | CA2640545538 | PYCR1 | c.*6C>A (n.*6C>A) c.867+99C>A (n.867+99C>A) c.*148C>A (n.*148C>A) c.670C>A (n.670C>A) | gnomAD v4 |
| 17 | g.81933210C= | CA2278748870 | PYCR1 | c.*4G= (n.*4G=) c.867+97G= (n.867+97G=) c.*146G= (n.*146G=) c.668G= (n.668G=) | |
| 17 | g.81933210C>T | CA8845219 | PYCR1 | c.*4G>A (n.*4G>A) c.867+97G>A (n.867+97G>A) c.*146G>A (n.*146G>A) c.668G>A (n.668G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933211G>A | CA8845221 | PYCR1 | c.*3C>T (n.*3C>T) c.867+96C>T (n.867+96C>T) c.*145C>T (n.*145C>T) c.667C>T (n.667C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933211G= | CA2278748871 | PYCR1 | c.*3C= (n.*3C=) c.867+96C= (n.867+96C=) c.*145C= (n.*145C=) c.667C= (n.667C=) | |
| 17 | g.81933211G>T | CA8845220 | PYCR1 | c.*3C>A (n.*3C>A) c.867+96C>A (n.867+96C>A) c.*145C>A (n.*145C>A) c.667C>A (n.667C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933211dup | CA2640545539 | PYCR1 | c.*3dup (n.*3dup) c.867+96dup (n.867+96dup) c.*145dup (n.*145dup) c.667dup (n.667dup) | gnomAD v4 |
| 17 | g.81933212T>C | CA8845222 | PYCR1 | c.*2A>G (n.*2A>G) c.867+95A>G (n.867+95A>G) c.*144A>G (n.*144A>G) c.666A>G (n.666A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933212T= | CA2278748872 | PYCR1 | c.*2A= (n.*2A=) c.867+95A= (n.867+95A=) c.*144A= (n.*144A=) c.666A= (n.666A=) | |
| 17 | g.81933213G>A | CA8845223 | PYCR1 | c.*1C>T (n.*1C>T) c.867+94C>T (n.867+94C>T) c.*143C>T (n.*143C>T) c.665C>T (n.665C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933213G= | CA2278748873 | PYCR1 | c.*1C= (n.*1C=) c.867+94C= (n.867+94C=) c.*143C= (n.*143C=) c.665C= (n.665C=) | |
| 17 | g.81933213G>T | CA2576428583 | PYCR1 | c.*1C>A (n.*1C>A) c.867+94C>A (n.867+94C>A) c.*143C>A (n.*143C>A) c.665C>A (n.665C>A) | |
| 17 | g.81933214T>A | CA401536320 | PYCR1 | c.960A>T (p.Ter320Cys) c.867+93A>T (n.867+93A>T) c.1041A>T (p.Ter347Cys) c.867A>T (p.Ter289Cys) c.*142A>T (n.*142A>T) c.664A>T (n.664A>T) | |
| 17 | g.81933214T>C | CA401536322 | PYCR1 | c.960A>G (p.Ter320Trp) c.867+93A>G (n.867+93A>G) c.1041A>G (p.Ter347Trp) c.867A>G (p.Ter289Trp) c.*142A>G (n.*142A>G) c.664A>G (n.664A>G) | |
| 17 | g.81933214T>G | CA401536318 | PYCR1 | c.960A>C (p.Ter320Cys) c.867+93A>C (n.867+93A>C) c.1041A>C (p.Ter347Cys) c.867A>C (p.Ter289Cys) c.*142A>C (n.*142A>C) c.664A>C (n.664A>C) | |
| 17 | g.81933215C>A | CA295134346 | PYCR1 | c.959G>T (p.Ter320Leu) c.867+92G>T (n.867+92G>T) c.1040G>T (p.Ter347Leu) c.866G>T (p.Ter289Leu) c.*141G>T (n.*141G>T) c.663G>T (n.663G>T) | dbSNP |
| 17 | g.81933215C= | CA2278748874 | PYCR1 | c.959G= (p.Ter320=) c.867+92G= (n.867+92G=) c.1040G= (p.Ter347=) c.866G= (p.Ter289=) c.*141G= (n.*141G=) c.663G= (n.663G=) | |
| 17 | g.81933215C>G | CA401536324 | PYCR1 | c.959G>C (p.Ter320Ser) c.867+92G>C (n.867+92G>C) c.1040G>C (p.Ter347Ser) c.866G>C (p.Ter289Ser) c.*141G>C (n.*141G>C) c.663G>C (n.663G>C) | COSMIC |
| 17 | g.81933215C>T | CA502333755 | PYCR1 | c.959G>A (p.Ter320=) c.867+92G>A (n.867+92G>A) c.1040G>A (p.Ter347=) c.866G>A (p.Ter289=) c.*141G>A (n.*141G>A) c.663G>A (n.663G>A) | dbSNP gnomAD v4 |
| 17 | g.81933216A>C | CA401536325 | PYCR1 | c.958T>G (p.Ter320Gly) c.867+91T>G (n.867+91T>G) c.1039T>G (p.Ter347Gly) c.865T>G (p.Ter289Gly) c.*140T>G (n.*140T>G) c.662T>G (n.662T>G) | |
| 17 | g.81933216A>G | CA401536327 | PYCR1 | c.958T>C (p.Ter320Arg) c.867+91T>C (n.867+91T>C) c.1039T>C (p.Ter347Arg) c.865T>C (p.Ter289Arg) c.*140T>C (n.*140T>C) c.662T>C (n.662T>C) | |
| 17 | g.81933216A>T | CA401536328 | PYCR1 | c.958T>A (p.Ter320Arg) c.867+91T>A (n.867+91T>A) c.1039T>A (p.Ter347Arg) c.865T>A (p.Ter289Arg) c.*140T>A (n.*140T>A) c.662T>A (n.662T>A) | |
| 17 | g.81933217A>C | CA401536330 | PYCR1 | c.957T>G (p.Asp319Glu) c.867+90T>G (n.867+90T>G) c.1038T>G (p.Asp346Glu) c.864T>G (p.Asp288Glu) c.*139T>G (n.*139T>G) c.661T>G (n.661T>G) | |
| 17 | g.81933217A>G | CA502333773 | PYCR1 | c.957T>C (p.Asp319=) c.867+90T>C (n.867+90T>C) c.1038T>C (p.Asp346=) c.864T>C (p.Asp288=) c.*139T>C (n.*139T>C) c.661T>C (n.661T>C) | |
| 17 | g.81933217A>T | CA401536332 | PYCR1 | c.957T>A (p.Asp319Glu) c.867+90T>A (n.867+90T>A) c.1038T>A (p.Asp346Glu) c.864T>A (p.Asp288Glu) c.*139T>A (n.*139T>A) c.661T>A (n.661T>A) | |
| 17 | g.81933218T>A | CA401536333 | PYCR1 | c.956A>T (p.Asp319Val) c.867+89A>T (n.867+89A>T) c.1037A>T (p.Asp346Val) c.863A>T (p.Asp288Val) c.*138A>T (n.*138A>T) c.660A>T (n.660A>T) | |
| 17 | g.81933218T>C | CA401536335 | PYCR1 | c.956A>G (p.Asp319Gly) c.867+89A>G (n.867+89A>G) c.1037A>G (p.Asp346Gly) c.863A>G (p.Asp288Gly) c.*138A>G (n.*138A>G) c.660A>G (n.660A>G) | |
| 17 | g.81933218T>G | CA401536336 | PYCR1 | c.956A>C (p.Asp319Ala) c.867+89A>C (n.867+89A>C) c.1037A>C (p.Asp346Ala) c.863A>C (p.Asp288Ala) c.*138A>C (n.*138A>C) c.660A>C (n.660A>C) | |
| 17 | g.81933219C>A | CA401536338 | PYCR1 | c.955G>T (p.Asp319Tyr) c.867+88G>T (n.867+88G>T) c.1036G>T (p.Asp346Tyr) c.862G>T (p.Asp288Tyr) c.*137G>T (n.*137G>T) c.659G>T (n.659G>T) | |
| 17 | g.81933219C>G | CA401536339 | PYCR1 | c.955G>C (p.Asp319His) c.867+88G>C (n.867+88G>C) c.1036G>C (p.Asp346His) c.862G>C (p.Asp288His) c.*137G>C (n.*137G>C) c.659G>C (n.659G>C) | gnomAD v4 |
| 17 | g.81933219C>T | CA401536340 | PYCR1 | c.955G>A (p.Asp319Asn) c.867+88G>A (n.867+88G>A) c.1036G>A (p.Asp346Asn) c.862G>A (p.Asp288Asn) c.*137G>A (n.*137G>A) c.659G>A (n.659G>A) | |
| 17 | g.81933220C>A | CA401536343 | PYCR1 | c.954G>T (p.Lys318Asn) c.867+87G>T (n.867+87G>T) c.1035G>T (p.Lys345Asn) c.861G>T (p.Lys287Asn) c.*136G>T (n.*136G>T) c.658G>T (n.658G>T) | |
| 17 | g.81933220C= | CA2278748875 | PYCR1 | c.954G= (p.Lys318=) c.867+87G= (n.867+87G=) c.1035G= (p.Lys345=) c.861G= (p.Lys287=) c.*136G= (n.*136G=) c.658G= (n.658G=) | |
| 17 | g.81933220C>G | CA401536341 | PYCR1 | c.954G>C (p.Lys318Asn) c.867+87G>C (n.867+87G>C) c.1035G>C (p.Lys345Asn) c.861G>C (p.Lys287Asn) c.*136G>C (n.*136G>C) c.658G>C (n.658G>C) | |
| 17 | g.81933220C>T | CA502333795 | PYCR1 | c.954G>A (p.Lys318=) c.867+87G>A (n.867+87G>A) c.1035G>A (p.Lys345=) c.861G>A (p.Lys287=) c.*136G>A (n.*136G>A) c.658G>A (n.658G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933221T>A | CA401536345 | PYCR1 | c.953A>T (p.Lys318Met) c.867+86A>T (n.867+86A>T) c.1034A>T (p.Lys345Met) c.860A>T (p.Lys287Met) c.*135A>T (n.*135A>T) c.657A>T (n.657A>T) | |
| 17 | g.81933221T>C | CA401536346 | PYCR1 | c.953A>G (p.Lys318Arg) c.867+86A>G (n.867+86A>G) c.1034A>G (p.Lys345Arg) c.860A>G (p.Lys287Arg) c.*135A>G (n.*135A>G) c.657A>G (n.657A>G) | |
| 17 | g.81933221T>G | CA401536347 | PYCR1 | c.953A>C (p.Lys318Thr) c.867+86A>C (n.867+86A>C) c.1034A>C (p.Lys345Thr) c.860A>C (p.Lys287Thr) c.*135A>C (n.*135A>C) c.657A>C (n.657A>C) | |
| 17 | g.81933222T>A | CA401536349 | PYCR1 | c.952A>T (p.Lys318Ter) c.867+85A>T (n.867+85A>T) c.1033A>T (p.Lys345Ter) c.859A>T (p.Lys287Ter) c.*134A>T (n.*134A>T) c.656A>T (n.656A>T) | |
| 17 | g.81933222T>C | CA401536351 | PYCR1 | c.952A>G (p.Lys318Glu) c.867+85A>G (n.867+85A>G) c.1033A>G (p.Lys345Glu) c.859A>G (p.Lys287Glu) c.*134A>G (n.*134A>G) c.656A>G (n.656A>G) | |
| 17 | g.81933222T>G | CA401536352 | PYCR1 | c.952A>C (p.Lys318Gln) c.867+85A>C (n.867+85A>C) c.1033A>C (p.Lys345Gln) c.859A>C (p.Lys287Gln) c.*134A>C (n.*134A>C) c.656A>C (n.656A>C) | |
| 17 | g.81933223G>A | CA502333815 | PYCR1 | c.951C>T (p.Gly317=) c.867+84C>T (n.867+84C>T) c.1032C>T (p.Gly344=) c.858C>T (p.Gly286=) c.*133C>T (n.*133C>T) c.655C>T (n.655C>T) | |
| 17 | g.81933223G>C | CA8845224 | PYCR1 | c.951C>G (p.Gly317=) c.867+84C>G (n.867+84C>G) c.1032C>G (p.Gly344=) c.858C>G (p.Gly286=) c.*133C>G (n.*133C>G) c.655C>G (n.655C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933223G= | CA2278748876 | PYCR1 | c.951C= (p.Gly317=) c.867+84C= (n.867+84C=) c.1032C= (p.Gly344=) c.858C= (p.Gly286=) c.*133C= (n.*133C=) c.655C= (n.655C=) | |
| 17 | g.81933223G>T | CA502333814 | PYCR1 | c.951C>A (p.Gly317=) c.867+84C>A (n.867+84C>A) c.1032C>A (p.Gly344=) c.858C>A (p.Gly286=) c.*133C>A (n.*133C>A) c.655C>A (n.655C>A) | |
| 17 | g.81933224C>A | CA401536354 | PYCR1 | c.950G>T (p.Gly317Val) c.867+83G>T (n.867+83G>T) c.1031G>T (p.Gly344Val) c.857G>T (p.Gly286Val) c.*132G>T (n.*132G>T) c.654G>T (n.654G>T) | |
| 17 | g.81933224C= | CA2278748877 | PYCR1 | c.950G= (p.Gly317=) c.867+83G= (n.867+83G=) c.1031G= (p.Gly344=) c.857G= (p.Gly286=) c.*132G= (n.*132G=) c.654G= (n.654G=) | |
| 17 | g.81933224C>G | CA401536357 | PYCR1 | c.950G>C (p.Gly317Ala) c.867+83G>C (n.867+83G>C) c.1031G>C (p.Gly344Ala) c.857G>C (p.Gly286Ala) c.*132G>C (n.*132G>C) c.654G>C (n.654G>C) | |
| 17 | g.81933224C>T | CA8845225 | PYCR1 | c.950G>A (p.Gly317Asp) c.867+83G>A (n.867+83G>A) c.1031G>A (p.Gly344Asp) c.857G>A (p.Gly286Asp) c.*132G>A (n.*132G>A) c.654G>A (n.654G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933225C>A | CA401536358 | PYCR1 | c.949G>T (p.Gly317Cys) c.867+82G>T (n.867+82G>T) c.1030G>T (p.Gly344Cys) c.856G>T (p.Gly286Cys) c.*131G>T (n.*131G>T) c.653G>T (n.653G>T) | |
| 17 | g.81933225C>G | CA401536360 | PYCR1 | c.949G>C (p.Gly317Arg) c.867+82G>C (n.867+82G>C) c.1030G>C (p.Gly344Arg) c.856G>C (p.Gly286Arg) c.*131G>C (n.*131G>C) c.653G>C (n.653G>C) | |
| 17 | g.81933225C>T | CA401536361 | PYCR1 | c.949G>A (p.Gly317Ser) c.867+82G>A (n.867+82G>A) c.1030G>A (p.Gly344Ser) c.856G>A (p.Gly286Ser) c.*131G>A (n.*131G>A) c.653G>A (n.653G>A) | ClinVar |
| 17 | g.81933226C>A | CA502333829 | PYCR1 | c.948G>T (p.Ala316=) c.867+81G>T (n.867+81G>T) c.1029G>T (p.Ala343=) c.855G>T (p.Ala285=) c.*130G>T (n.*130G>T) c.652G>T (n.652G>T) | |
| 17 | g.81933226C= | CA2278748878 | PYCR1 | c.948G= (p.Ala316=) c.867+81G= (n.867+81G=) c.1029G= (p.Ala343=) c.855G= (p.Ala285=) c.*130G= (n.*130G=) c.652G= (n.652G=) | |
| 17 | g.81933226C>G | CA502333832 | PYCR1 | c.948G>C (p.Ala316=) c.867+81G>C (n.867+81G>C) c.1029G>C (p.Ala343=) c.855G>C (p.Ala285=) c.*130G>C (n.*130G>C) c.652G>C (n.652G>C) | |
| 17 | g.81933226C>T | CA8845226 | PYCR1 | c.948G>A (p.Ala316=) c.867+81G>A (n.867+81G>A) c.1029G>A (p.Ala343=) c.855G>A (p.Ala285=) c.*130G>A (n.*130G>A) c.652G>A (n.652G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933227G>A | CA8845227 | PYCR1 | c.947C>T (p.Ala316Val) c.867+80C>T (n.867+80C>T) c.1028C>T (p.Ala343Val) c.854C>T (p.Ala285Val) c.*129C>T (n.*129C>T) c.651C>T (n.651C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933227G>C | CA401536365 | PYCR1 | c.947C>G (p.Ala316Gly) c.867+80C>G (n.867+80C>G) c.1028C>G (p.Ala343Gly) c.854C>G (p.Ala285Gly) c.*129C>G (n.*129C>G) c.651C>G (n.651C>G) | |
| 17 | g.81933227G= | CA2278748879 | PYCR1 | c.947C= (p.Ala316=) c.867+80C= (n.867+80C=) c.1028C= (p.Ala343=) c.854C= (p.Ala285=) c.*129C= (n.*129C=) c.651C= (n.651C=) | |
| 17 | g.81933227G>T | CA401536364 | PYCR1 | c.947C>A (p.Ala316Glu) c.867+80C>A (n.867+80C>A) c.1028C>A (p.Ala343Glu) c.854C>A (p.Ala285Glu) c.*129C>A (n.*129C>A) c.651C>A (n.651C>A) | |
| 17 | g.81933228C>A | CA401536367 | PYCR1 | c.946G>T (p.Ala316Ser) c.867+79G>T (n.867+79G>T) c.1027G>T (p.Ala343Ser) c.853G>T (p.Ala285Ser) c.*128G>T (n.*128G>T) c.650G>T (n.650G>T) | gnomAD v4 |
| 17 | g.81933228C= | CA2278748880 | PYCR1 | c.946G= (p.Ala316=) c.867+79G= (n.867+79G=) c.1027G= (p.Ala343=) c.853G= (p.Ala285=) c.*128G= (n.*128G=) c.650G= (n.650G=) | |
| 17 | g.81933228C>G | CA401536368 | PYCR1 | c.946G>C (p.Ala316Pro) c.867+79G>C (n.867+79G>C) c.1027G>C (p.Ala343Pro) c.853G>C (p.Ala285Pro) c.*128G>C (n.*128G>C) c.650G>C (n.650G>C) | |
| 17 | g.81933228C>T | CA401536370 | PYCR1 | c.946G>A (p.Ala316Thr) c.867+79G>A (n.867+79G>A) c.1027G>A (p.Ala343Thr) c.853G>A (p.Ala285Thr) c.*128G>A (n.*128G>A) c.650G>A (n.650G>A) | dbSNP |
| 17 | g.81933229T>A | CA502333841 | PYCR1 | c.945A>T (p.Pro315=) c.867+78A>T (n.867+78A>T) c.1026A>T (p.Pro342=) c.852A>T (p.Pro284=) c.*127A>T (n.*127A>T) c.649A>T (n.649A>T) | |
| 17 | g.81933229T>C | CA502333840 | PYCR1 | c.945A>G (p.Pro315=) c.867+78A>G (n.867+78A>G) c.1026A>G (p.Pro342=) c.852A>G (p.Pro284=) c.*127A>G (n.*127A>G) c.649A>G (n.649A>G) | |
| 17 | g.81933229T>G | CA502333839 | PYCR1 | c.945A>C (p.Pro315=) c.867+78A>C (n.867+78A>C) c.1026A>C (p.Pro342=) c.852A>C (p.Pro284=) c.*127A>C (n.*127A>C) c.649A>C (n.649A>C) | |
| 17 | g.81933230G>A | CA401536371 | PYCR1 | c.944C>T (p.Pro315Leu) c.867+77C>T (n.867+77C>T) c.1025C>T (p.Pro342Leu) c.851C>T (p.Pro284Leu) c.*126C>T (n.*126C>T) c.648C>T (n.648C>T) | |
| 17 | g.81933230G>C | CA401536373 | PYCR1 | c.944C>G (p.Pro315Arg) c.867+77C>G (n.867+77C>G) c.1025C>G (p.Pro342Arg) c.851C>G (p.Pro284Arg) c.*126C>G (n.*126C>G) c.648C>G (n.648C>G) | |
| 17 | g.81933230G>T | CA401536374 | PYCR1 | c.944C>A (p.Pro315Gln) c.867+77C>A (n.867+77C>A) c.1025C>A (p.Pro342Gln) c.851C>A (p.Pro284Gln) c.*126C>A (n.*126C>A) c.648C>A (n.648C>A) | |
| 17 | g.81933233del | CA2576428584 | PYCR1 | c.944del (p.Pro315GlnfsTer?) c.867+77del (n.867+77del) c.1025del (p.Pro342GlnfsTer?) c.851del (p.Pro284GlnfsTer?) c.*126del (n.*126del) c.648del (n.648del) | gnomAD v4 |
| 17 | g.81933231G>A | CA401536380 | PYCR1 | c.943C>T (p.Pro315Ser) c.867+76C>T (n.867+76C>T) c.1024C>T (p.Pro342Ser) c.850C>T (p.Pro284Ser) c.*125C>T (n.*125C>T) c.647C>T (n.647C>T) | |
| 17 | g.81933231G>C | CA401536378 | PYCR1 | c.943C>G (p.Pro315Ala) c.867+76C>G (n.867+76C>G) c.1024C>G (p.Pro342Ala) c.850C>G (p.Pro284Ala) c.*125C>G (n.*125C>G) c.647C>G (n.647C>G) | |
| 17 | g.81933231G>T | CA401536376 | PYCR1 | c.943C>A (p.Pro315Thr) c.867+76C>A (n.867+76C>A) c.1024C>A (p.Pro342Thr) c.850C>A (p.Pro284Thr) c.*125C>A (n.*125C>A) c.647C>A (n.647C>A) | |
| 17 | g.81933232G>A | CA502333855 | PYCR1 | c.942C>T (p.Ala314=) c.867+75C>T (n.867+75C>T) c.1023C>T (p.Ala341=) c.849C>T (p.Ala283=) c.*124C>T (n.*124C>T) c.646C>T (n.646C>T) | COSMIC |
| 17 | g.81933232G>C | CA502333858 | PYCR1 | c.942C>G (p.Ala314=) c.867+75C>G (n.867+75C>G) c.1023C>G (p.Ala341=) c.849C>G (p.Ala283=) c.*124C>G (n.*124C>G) c.646C>G (n.646C>G) | |
| 17 | g.81933232G= | CA2278748881 | PYCR1 | c.942C= (p.Ala314=) c.867+75C= (n.867+75C=) c.1023C= (p.Ala341=) c.849C= (p.Ala283=) c.*124C= (n.*124C=) c.646C= (n.646C=) | |
| 17 | g.81933232G>T | CA502333859 | PYCR1 | c.942C>A (p.Ala314=) c.867+75C>A (n.867+75C>A) c.1023C>A (p.Ala341=) c.849C>A (p.Ala283=) c.*124C>A (n.*124C>A) c.646C>A (n.646C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933233G>A | CA401536381 | PYCR1 | c.941C>T (p.Ala314Val) c.867+74C>T (n.867+74C>T) c.1022C>T (p.Ala341Val) c.848C>T (p.Ala283Val) c.*123C>T (n.*123C>T) c.645C>T (n.645C>T) | |
| 17 | g.81933233G>C | CA401536382 | PYCR1 | c.941C>G (p.Ala314Gly) c.867+74C>G (n.867+74C>G) c.1022C>G (p.Ala341Gly) c.848C>G (p.Ala283Gly) c.*123C>G (n.*123C>G) c.645C>G (n.645C>G) | |
| 17 | g.81933233G>T | CA401536384 | PYCR1 | c.941C>A (p.Ala314Asp) c.867+74C>A (n.867+74C>A) c.1022C>A (p.Ala341Asp) c.848C>A (p.Ala283Asp) c.*123C>A (n.*123C>A) c.645C>A (n.645C>A) | |
| 17 | g.81933234C>A | CA401536386 | PYCR1 | c.940G>T (p.Ala314Ser) c.867+73G>T (n.867+73G>T) c.1021G>T (p.Ala341Ser) c.847G>T (p.Ala283Ser) c.*122G>T (n.*122G>T) c.644G>T (n.644G>T) | |
| 17 | g.81933234C>G | CA401536388 | PYCR1 | c.940G>C (p.Ala314Pro) c.867+73G>C (n.867+73G>C) c.1021G>C (p.Ala341Pro) c.847G>C (p.Ala283Pro) c.*122G>C (n.*122G>C) c.644G>C (n.644G>C) | |
| 17 | g.81933234C>T | CA401536389 | PYCR1 | c.940G>A (p.Ala314Thr) c.867+73G>A (n.867+73G>A) c.1021G>A (p.Ala341Thr) c.847G>A (p.Ala283Thr) c.*122G>A (n.*122G>A) c.644G>A (n.644G>A) | |
| 17 | g.81933235C>A | CA502333869 | PYCR1 | c.939G>T (p.Leu313=) c.867+72G>T (n.867+72G>T) c.1020G>T (p.Leu340=) c.846G>T (p.Leu282=) c.*121G>T (n.*121G>T) c.643G>T (n.643G>T) | |
| 17 | g.81933235C>G | CA502333870 | PYCR1 | c.939G>C (p.Leu313=) c.867+72G>C (n.867+72G>C) c.1020G>C (p.Leu340=) c.846G>C (p.Leu282=) c.*121G>C (n.*121G>C) c.643G>C (n.643G>C) | |
| 17 | g.81933235C>T | CA502333871 | PYCR1 | c.939G>A (p.Leu313=) c.867+72G>A (n.867+72G>A) c.1020G>A (p.Leu340=) c.846G>A (p.Leu282=) c.*121G>A (n.*121G>A) c.643G>A (n.643G>A) | gnomAD v4 |
| 17 | g.81933236A>C | CA401536390 | PYCR1 | c.938T>G (p.Leu313Arg) c.867+71T>G (n.867+71T>G) c.1019T>G (p.Leu340Arg) c.845T>G (p.Leu282Arg) c.*120T>G (n.*120T>G) c.642T>G (n.642T>G) | |
| 17 | g.81933236A>G | CA401536394 | PYCR1 | c.938T>C (p.Leu313Pro) c.867+71T>C (n.867+71T>C) c.1019T>C (p.Leu340Pro) c.845T>C (p.Leu282Pro) c.*120T>C (n.*120T>C) c.642T>C (n.642T>C) | |
| 17 | g.81933236A>T | CA401536392 | PYCR1 | c.938T>A (p.Leu313Gln) c.867+71T>A (n.867+71T>A) c.1019T>A (p.Leu340Gln) c.845T>A (p.Leu282Gln) c.*120T>A (n.*120T>A) c.642T>A (n.642T>A) | |
| 17 | g.81933237G>A | CA502333874 | PYCR1 | c.937C>T (p.Leu313=) c.867+70C>T (n.867+70C>T) c.1018C>T (p.Leu340=) c.844C>T (p.Leu282=) c.*119C>T (n.*119C>T) c.641C>T (n.641C>T) | |
| 17 | g.81933237G>C | CA401536395 | PYCR1 | c.937C>G (p.Leu313Val) c.867+70C>G (n.867+70C>G) c.1018C>G (p.Leu340Val) c.844C>G (p.Leu282Val) c.*119C>G (n.*119C>G) c.641C>G (n.641C>G) | |
| 17 | g.81933237G>T | CA401536396 | PYCR1 | c.937C>A (p.Leu313Met) c.867+70C>A (n.867+70C>A) c.1018C>A (p.Leu340Met) c.844C>A (p.Leu282Met) c.*119C>A (n.*119C>A) c.641C>A (n.641C>A) | |
| 17 | g.81933238G>A | CA8845228 | PYCR1 | c.936C>T (p.Ser312=) c.867+69C>T (n.867+69C>T) c.1017C>T (p.Ser339=) c.843C>T (p.Ser281=) c.*118C>T (n.*118C>T) c.640C>T (n.640C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933238G>C | CA401536399 | PYCR1 | c.936C>G (p.Ser312Arg) c.867+69C>G (n.867+69C>G) c.1017C>G (p.Ser339Arg) c.843C>G (p.Ser281Arg) c.*118C>G (n.*118C>G) c.640C>G (n.640C>G) | |
| 17 | g.81933238G= | CA2278748882 | PYCR1 | c.936C= (p.Ser312=) c.867+69C= (n.867+69C=) c.1017C= (p.Ser339=) c.843C= (p.Ser281=) c.*118C= (n.*118C=) c.640C= (n.640C=) | |
| 17 | g.81933238G>T | CA401536400 | PYCR1 | c.936C>A (p.Ser312Arg) c.867+69C>A (n.867+69C>A) c.1017C>A (p.Ser339Arg) c.843C>A (p.Ser281Arg) c.*118C>A (n.*118C>A) c.640C>A (n.640C>A) | |
| 17 | g.81933239C>A | CA401536402 | PYCR1 | c.935G>T (p.Ser312Ile) c.867+68G>T (n.867+68G>T) c.1016G>T (p.Ser339Ile) c.842G>T (p.Ser281Ile) c.*117G>T (n.*117G>T) c.639G>T (n.639G>T) | |
| 17 | g.81933239C>G | CA401536403 | PYCR1 | c.935G>C (p.Ser312Thr) c.867+68G>C (n.867+68G>C) c.1016G>C (p.Ser339Thr) c.842G>C (p.Ser281Thr) c.*117G>C (n.*117G>C) c.639G>C (n.639G>C) | |
| 17 | g.81933239C>T | CA401536404 | PYCR1 | c.935G>A (p.Ser312Asn) c.867+68G>A (n.867+68G>A) c.1016G>A (p.Ser339Asn) c.842G>A (p.Ser281Asn) c.*117G>A (n.*117G>A) c.639G>A (n.639G>A) | gnomAD v4 |
| 17 | g.81933240T>A | CA401536407 | PYCR1 | c.934A>T (p.Ser312Cys) c.867+67A>T (n.867+67A>T) c.1015A>T (p.Ser339Cys) c.841A>T (p.Ser281Cys) c.*116A>T (n.*116A>T) c.638A>T (n.638A>T) | |
| 17 | g.81933240T>C | CA401536409 | PYCR1 | c.934A>G (p.Ser312Gly) c.867+67A>G (n.867+67A>G) c.1015A>G (p.Ser339Gly) c.841A>G (p.Ser281Gly) c.*116A>G (n.*116A>G) c.638A>G (n.638A>G) | |
| 17 | g.81933240T>G | CA401536410 | PYCR1 | c.934A>C (p.Ser312Arg) c.867+67A>C (n.867+67A>C) c.1015A>C (p.Ser339Arg) c.841A>C (p.Ser281Arg) c.*116A>C (n.*116A>C) c.638A>C (n.638A>C) | ClinVar gnomAD v4 |
| 17 | g.81933241G>A | CA502333892 | PYCR1 | c.933C>T (p.Arg311=) c.867+66C>T (n.867+66C>T) c.1014C>T (p.Arg338=) c.840C>T (p.Arg280=) c.*115C>T (n.*115C>T) c.637C>T (n.637C>T) | |
| 17 | g.81933241G>C | CA502333894 | PYCR1 | c.933C>G (p.Arg311=) c.867+66C>G (n.867+66C>G) c.1014C>G (p.Arg338=) c.840C>G (p.Arg280=) c.*115C>G (n.*115C>G) c.637C>G (n.637C>G) | |
| 17 | g.81933241G= | CA2278748883 | PYCR1 | c.933C= (p.Arg311=) c.867+66C= (n.867+66C=) c.1014C= (p.Arg338=) c.840C= (p.Arg280=) c.*115C= (n.*115C=) c.637C= (n.637C=) | |
| 17 | g.81933241G>T | CA502333896 | PYCR1 | c.933C>A (p.Arg311=) c.867+66C>A (n.867+66C>A) c.1014C>A (p.Arg338=) c.840C>A (p.Arg280=) c.*115C>A (n.*115C>A) c.637C>A (n.637C>A) | |
| 17 | g.81933242C>A | CA401536414 | PYCR1 | c.932G>T (p.Arg311Leu) c.867+65G>T (n.867+65G>T) c.1013G>T (p.Arg338Leu) c.839G>T (p.Arg280Leu) c.*114G>T (n.*114G>T) c.636G>T (n.636G>T) | |
| 17 | g.81933242C= | CA2278748884 | PYCR1 | c.932G= (p.Arg311=) c.867+65G= (n.867+65G=) c.1013G= (p.Arg338=) c.839G= (p.Arg280=) c.*114G= (n.*114G=) c.636G= (n.636G=) | |
| 17 | g.81933242C>G | CA401536411 | PYCR1 | c.932G>C (p.Arg311Pro) c.867+65G>C (n.867+65G>C) c.1013G>C (p.Arg338Pro) c.839G>C (p.Arg280Pro) c.*114G>C (n.*114G>C) c.636G>C (n.636G>C) | |
| 17 | g.81933242C>T | CA295134363 | PYCR1 | c.932G>A (p.Arg311His) c.867+65G>A (n.867+65G>A) c.1013G>A (p.Arg338His) c.839G>A (p.Arg280His) c.*114G>A (n.*114G>A) c.636G>A (n.636G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933242dup | CA8845229 | PYCR1 | c.932dup (p.Ser312GlnfsTer14) c.867+65dup (n.867+65dup) c.1013dup (p.Ser339GlnfsTer14) c.839dup (p.Ser281GlnfsTer14) c.*114dup (n.*114dup) c.636dup (n.636dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81933243G>A | CA8845231 | PYCR1 | c.931C>T (p.Arg311Cys) c.867+64C>T (n.867+64C>T) c.1012C>T (p.Arg338Cys) c.838C>T (p.Arg280Cys) c.*113C>T (n.*113C>T) c.635C>T (n.635C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933243G>C | CA401536416 | PYCR1 | c.931C>G (p.Arg311Gly) c.867+64C>G (n.867+64C>G) c.1012C>G (p.Arg338Gly) c.838C>G (p.Arg280Gly) c.*113C>G (n.*113C>G) c.635C>G (n.635C>G) | |
| 17 | g.81933243G= | CA2278748885 | PYCR1 | c.931C= (p.Arg311=) c.867+64C= (n.867+64C=) c.1012C= (p.Arg338=) c.838C= (p.Arg280=) c.*113C= (n.*113C=) c.635C= (n.635C=) | |
| 17 | g.81933243G>T | CA8845230 | PYCR1 | c.931C>A (p.Arg311Ser) c.867+64C>A (n.867+64C>A) c.1012C>A (p.Arg338Ser) c.838C>A (p.Arg280Ser) c.*113C>A (n.*113C>A) c.635C>A (n.635C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933244G>A | CA502333921 | PYCR1 | c.930C>T (p.Pro310=) c.867+63C>T (n.867+63C>T) c.1011C>T (p.Pro337=) c.837C>T (p.Pro279=) c.*112C>T (n.*112C>T) c.634C>T (n.634C>T) | |
| 17 | g.81933244G>C | CA502333917 | PYCR1 | c.930C>G (p.Pro310=) c.867+63C>G (n.867+63C>G) c.1011C>G (p.Pro337=) c.837C>G (p.Pro279=) c.*112C>G (n.*112C>G) c.634C>G (n.634C>G) | |
| 17 | g.81933244G>T | CA502333914 | PYCR1 | c.930C>A (p.Pro310=) c.867+63C>A (n.867+63C>A) c.1011C>A (p.Pro337=) c.837C>A (p.Pro279=) c.*112C>A (n.*112C>A) c.634C>A (n.634C>A) | |
| 17 | g.81933245G>A | CA401536418 | PYCR1 | c.929C>T (p.Pro310Leu) c.867+62C>T (n.867+62C>T) c.1010C>T (p.Pro337Leu) c.836C>T (p.Pro279Leu) c.*111C>T (n.*111C>T) c.633C>T (n.633C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933245G>C | CA401536420 | PYCR1 | c.929C>G (p.Pro310Arg) c.867+62C>G (n.867+62C>G) c.1010C>G (p.Pro337Arg) c.836C>G (p.Pro279Arg) c.*111C>G (n.*111C>G) c.633C>G (n.633C>G) | |
| 17 | g.81933245G= | CA2278748886 | PYCR1 | c.929C= (p.Pro310=) c.867+62C= (n.867+62C=) c.1010C= (p.Pro337=) c.836C= (p.Pro279=) c.*111C= (n.*111C=) c.633C= (n.633C=) | |
| 17 | g.81933245G>T | CA401536422 | PYCR1 | c.929C>A (p.Pro310His) c.867+62C>A (n.867+62C>A) c.1010C>A (p.Pro337His) c.836C>A (p.Pro279His) c.*111C>A (n.*111C>A) c.633C>A (n.633C>A) | |
| 17 | g.81933246G>A | CA401536423 | PYCR1 | c.928C>T (p.Pro310Ser) c.867+61C>T (n.867+61C>T) c.1009C>T (p.Pro337Ser) c.835C>T (p.Pro279Ser) c.*110C>T (n.*110C>T) c.632C>T (n.632C>T) | |
| 17 | g.81933246G>C | CA401536424 | PYCR1 | c.928C>G (p.Pro310Ala) c.867+61C>G (n.867+61C>G) c.1009C>G (p.Pro337Ala) c.835C>G (p.Pro279Ala) c.*110C>G (n.*110C>G) c.632C>G (n.632C>G) | |
| 17 | g.81933246G>T | CA401536426 | PYCR1 | c.928C>A (p.Pro310Thr) c.867+61C>A (n.867+61C>A) c.1009C>A (p.Pro337Thr) c.835C>A (p.Pro279Thr) c.*110C>A (n.*110C>A) c.632C>A (n.632C>A) | gnomAD v4 |
| 17 | g.81933247G>A | CA502333939 | PYCR1 | c.927C>T (p.Leu309=) c.867+60C>T (n.867+60C>T) c.1008C>T (p.Leu336=) c.834C>T (p.Leu278=) c.*109C>T (n.*109C>T) c.631C>T (n.631C>T) | dbSNP |
| 17 | g.81933247G>C | CA502333936 | PYCR1 | c.927C>G (p.Leu309=) c.867+60C>G (n.867+60C>G) c.1008C>G (p.Leu336=) c.834C>G (p.Leu278=) c.*109C>G (n.*109C>G) c.631C>G (n.631C>G) | |
| 17 | g.81933247G= | CA2278748887 | PYCR1 | c.927C= (p.Leu309=) c.867+60C= (n.867+60C=) c.1008C= (p.Leu336=) c.834C= (p.Leu278=) c.*109C= (n.*109C=) c.631C= (n.631C=) | |
| 17 | g.81933247G>T | CA502333934 | PYCR1 | c.927C>A (p.Leu309=) c.867+60C>A (n.867+60C>A) c.1008C>A (p.Leu336=) c.834C>A (p.Leu278=) c.*109C>A (n.*109C>A) c.631C>A (n.631C>A) | |
| 17 | g.81933248A>C | CA401536428 | PYCR1 | c.926T>G (p.Leu309Arg) c.867+59T>G (n.867+59T>G) c.1007T>G (p.Leu336Arg) c.833T>G (p.Leu278Arg) c.*108T>G (n.*108T>G) c.630T>G (n.630T>G) | |
| 17 | g.81933248A>G | CA401536429 | PYCR1 | c.926T>C (p.Leu309Pro) c.867+59T>C (n.867+59T>C) c.1007T>C (p.Leu336Pro) c.833T>C (p.Leu278Pro) c.*108T>C (n.*108T>C) c.630T>C (n.630T>C) | gnomAD v4 |
| 17 | g.81933248A>T | CA401536430 | PYCR1 | c.926T>A (p.Leu309His) c.867+59T>A (n.867+59T>A) c.1007T>A (p.Leu336His) c.833T>A (p.Leu278His) c.*108T>A (n.*108T>A) c.630T>A (n.630T>A) | |
| 17 | g.81933249G>A | CA401536436 | PYCR1 | c.925C>T (p.Leu309Phe) c.867+58C>T (n.867+58C>T) c.1006C>T (p.Leu336Phe) c.832C>T (p.Leu278Phe) c.*107C>T (n.*107C>T) c.629C>T (n.629C>T) | |
| 17 | g.81933249G>C | CA401536434 | PYCR1 | c.925C>G (p.Leu309Val) c.867+58C>G (n.867+58C>G) c.1006C>G (p.Leu336Val) c.832C>G (p.Leu278Val) c.*107C>G (n.*107C>G) c.629C>G (n.629C>G) | |
| 17 | g.81933249G>T | CA401536433 | PYCR1 | c.925C>A (p.Leu309Ile) c.867+58C>A (n.867+58C>A) c.1006C>A (p.Leu336Ile) c.832C>A (p.Leu278Ile) c.*107C>A (n.*107C>A) c.629C>A (n.629C>A) | gnomAD v4 |
| 17 | g.81933250_81933272del | CA2576428585 | PYCR1 | c.903_925del (p.Ser303ProfsTer15) c.867+36_867+58del (n.867+36_867+58del) c.984_1006del (p.Ser330ProfsTer15) c.810_832del (p.Ser272ProfsTer15) c.*85_*107del (n.*85_*107del) c.607_629del (n.607_629del) | |
| 17 | g.81933250C>A | CA502333955 | PYCR1 | c.924G>T (p.Leu308=) c.867+57G>T (n.867+57G>T) c.1005G>T (p.Leu335=) c.831G>T (p.Leu277=) c.*106G>T (n.*106G>T) c.628G>T (n.628G>T) | |
| 17 | g.81933250C= | CA2278748888 | PYCR1 | c.924G= (p.Leu308=) c.867+57G= (n.867+57G=) c.1005G= (p.Leu335=) c.831G= (p.Leu277=) c.*106G= (n.*106G=) c.628G= (n.628G=) | |
| 17 | g.81933250C>G | CA502333957 | PYCR1 | c.924G>C (p.Leu308=) c.867+57G>C (n.867+57G>C) c.1005G>C (p.Leu335=) c.831G>C (p.Leu277=) c.*106G>C (n.*106G>C) c.628G>C (n.628G>C) | |
| 17 | g.81933250C>T | CA502333956 | PYCR1 | c.924G>A (p.Leu308=) c.867+57G>A (n.867+57G>A) c.1005G>A (p.Leu335=) c.831G>A (p.Leu277=) c.*106G>A (n.*106G>A) c.628G>A (n.628G>A) | dbSNP |
| 17 | g.81933251A>C | CA401536437 | PYCR1 | c.923T>G (p.Leu308Arg) c.867+56T>G (n.867+56T>G) c.1004T>G (p.Leu335Arg) c.830T>G (p.Leu277Arg) c.*105T>G (n.*105T>G) c.627T>G (n.627T>G) | |
| 17 | g.81933251A>G | CA401536439 | PYCR1 | c.923T>C (p.Leu308Pro) c.867+56T>C (n.867+56T>C) c.1004T>C (p.Leu335Pro) c.830T>C (p.Leu277Pro) c.*105T>C (n.*105T>C) c.627T>C (n.627T>C) | |
| 17 | g.81933251A>T | CA401536441 | PYCR1 | c.923T>A (p.Leu308Gln) c.867+56T>A (n.867+56T>A) c.1004T>A (p.Leu335Gln) c.830T>A (p.Leu277Gln) c.*105T>A (n.*105T>A) c.627T>A (n.627T>A) | |
| 17 | g.81933252G>A | CA502333966 | PYCR1 | c.922C>T (p.Leu308=) c.867+55C>T (n.867+55C>T) c.1003C>T (p.Leu335=) c.829C>T (p.Leu277=) c.*104C>T (n.*104C>T) c.626C>T (n.626C>T) | dbSNP gnomAD v4 |
| 17 | g.81933252G>C | CA295134382 | PYCR1 | c.922C>G (p.Leu308Val) c.867+55C>G (n.867+55C>G) c.1003C>G (p.Leu335Val) c.829C>G (p.Leu277Val) c.*104C>G (n.*104C>G) c.626C>G (n.626C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933252G= | CA2278748889 | PYCR1 | c.922C= (p.Leu308=) c.867+55C= (n.867+55C=) c.1003C= (p.Leu335=) c.829C= (p.Leu277=) c.*104C= (n.*104C=) c.626C= (n.626C=) | |
| 17 | g.81933252G>T | CA401536443 | PYCR1 | c.922C>A (p.Leu308Met) c.867+55C>A (n.867+55C>A) c.1003C>A (p.Leu335Met) c.829C>A (p.Leu277Met) c.*104C>A (n.*104C>A) c.626C>A (n.626C>A) | |
| 17 | g.81933253C>A | CA401536444 | PYCR1 | c.921G>T (p.Lys307Asn) c.867+54G>T (n.867+54G>T) c.1002G>T (p.Lys334Asn) c.828G>T (p.Lys276Asn) c.*103G>T (n.*103G>T) c.625G>T (n.625G>T) | gnomAD v4 |
| 17 | g.81933253C>G | CA401536445 | PYCR1 | c.921G>C (p.Lys307Asn) c.867+54G>C (n.867+54G>C) c.1002G>C (p.Lys334Asn) c.828G>C (p.Lys276Asn) c.*103G>C (n.*103G>C) c.625G>C (n.625G>C) | |
| 17 | g.81933253C>T | CA502333967 | PYCR1 | c.921G>A (p.Lys307=) c.867+54G>A (n.867+54G>A) c.1002G>A (p.Lys334=) c.828G>A (p.Lys276=) c.*103G>A (n.*103G>A) c.625G>A (n.625G>A) | gnomAD v4 |
| 17 | g.81933254T>A | CA401536446 | PYCR1 | c.920A>T (p.Lys307Met) c.867+53A>T (n.867+53A>T) c.1001A>T (p.Lys334Met) c.827A>T (p.Lys276Met) c.*102A>T (n.*102A>T) c.624A>T (n.624A>T) | |
| 17 | g.81933254T>C | CA401536447 | PYCR1 | c.920A>G (p.Lys307Arg) c.867+53A>G (n.867+53A>G) c.1001A>G (p.Lys334Arg) c.827A>G (p.Lys276Arg) c.*102A>G (n.*102A>G) c.624A>G (n.624A>G) | |
| 17 | g.81933254T>G | CA401536449 | PYCR1 | c.920A>C (p.Lys307Thr) c.867+53A>C (n.867+53A>C) c.1001A>C (p.Lys334Thr) c.827A>C (p.Lys276Thr) c.*102A>C (n.*102A>C) c.624A>C (n.624A>C) | |
| 17 | g.81933255T>A | CA401536450 | PYCR1 | c.919A>T (p.Lys307Ter) c.867+52A>T (n.867+52A>T) c.1000A>T (p.Lys334Ter) c.826A>T (p.Lys276Ter) c.*101A>T (n.*101A>T) c.623A>T (n.623A>T) | |
| 17 | g.81933255T>C | CA401536452 | PYCR1 | c.919A>G (p.Lys307Glu) c.867+52A>G (n.867+52A>G) c.1000A>G (p.Lys334Glu) c.826A>G (p.Lys276Glu) c.*101A>G (n.*101A>G) c.623A>G (n.623A>G) | |
| 17 | g.81933255T>G | CA401536453 | PYCR1 | c.919A>C (p.Lys307Gln) c.867+52A>C (n.867+52A>C) c.1000A>C (p.Lys334Gln) c.826A>C (p.Lys276Gln) c.*101A>C (n.*101A>C) c.623A>C (n.623A>C) | |
| 17 | g.81933256G>A | CA502333974 | PYCR1 | c.918C>T (p.Thr306=) c.867+51C>T (n.867+51C>T) c.999C>T (p.Thr333=) c.825C>T (p.Thr275=) c.*100C>T (n.*100C>T) c.622C>T (n.622C>T) | |
| 17 | g.81933256G>C | CA502333976 | PYCR1 | c.918C>G (p.Thr306=) c.867+51C>G (n.867+51C>G) c.999C>G (p.Thr333=) c.825C>G (p.Thr275=) c.*100C>G (n.*100C>G) c.622C>G (n.622C>G) | |
| 17 | g.81933256G>T | CA502333978 | PYCR1 | c.918C>A (p.Thr306=) c.867+51C>A (n.867+51C>A) c.999C>A (p.Thr333=) c.825C>A (p.Thr275=) c.*100C>A (n.*100C>A) c.622C>A (n.622C>A) | |
| 17 | g.81933257G>A | CA401536456 | PYCR1 | c.917C>T (p.Thr306Ile) c.867+50C>T (n.867+50C>T) c.998C>T (p.Thr333Ile) c.824C>T (p.Thr275Ile) c.*99C>T (n.*99C>T) c.621C>T (n.621C>T) | dbSNP |
| 17 | g.81933257G>C | CA401536458 | PYCR1 | c.917C>G (p.Thr306Ser) c.867+50C>G (n.867+50C>G) c.998C>G (p.Thr333Ser) c.824C>G (p.Thr275Ser) c.*99C>G (n.*99C>G) c.621C>G (n.621C>G) | gnomAD v4 |
| 17 | g.81933257G= | CA2278748890 | PYCR1 | c.917C= (p.Thr306=) c.867+50C= (n.867+50C=) c.998C= (p.Thr333=) c.824C= (p.Thr275=) c.*99C= (n.*99C=) c.621C= (n.621C=) | |
| 17 | g.81933257G>T | CA401536455 | PYCR1 | c.917C>A (p.Thr306Asn) c.867+50C>A (n.867+50C>A) c.998C>A (p.Thr333Asn) c.824C>A (p.Thr275Asn) c.*99C>A (n.*99C>A) c.621C>A (n.621C>A) | |
| 17 | g.81933258T>A | CA295134384 | PYCR1 | c.916A>T (p.Thr306Ser) c.867+49A>T (n.867+49A>T) c.997A>T (p.Thr333Ser) c.823A>T (p.Thr275Ser) c.*98A>T (n.*98A>T) c.620A>T (n.620A>T) | dbSNP gnomAD v4 |
| 17 | g.81933258T>C | CA401536461 | PYCR1 | c.916A>G (p.Thr306Ala) c.867+49A>G (n.867+49A>G) c.997A>G (p.Thr333Ala) c.823A>G (p.Thr275Ala) c.*98A>G (n.*98A>G) c.620A>G (n.620A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81933258T>G | CA401536460 | PYCR1 | c.916A>C (p.Thr306Pro) c.867+49A>C (n.867+49A>C) c.997A>C (p.Thr333Pro) c.823A>C (p.Thr275Pro) c.*98A>C (n.*98A>C) c.620A>C (n.620A>C) | |
| 17 | g.81933258T= | CA2278748891 | PYCR1 | c.916A= (p.Thr306=) c.867+49A= (n.867+49A=) c.997A= (p.Thr333=) c.823A= (p.Thr275=) c.*98A= (n.*98A=) c.620A= (n.620A=) | |
| 17 | g.81933259G>A | CA502333986 | PYCR1 | c.915C>T (p.His305=) c.867+48C>T (n.867+48C>T) c.996C>T (p.His332=) c.822C>T (p.His274=) c.*97C>T (n.*97C>T) c.619C>T (n.619C>T) | |
| 17 | g.81933259G>C | CA401536463 | PYCR1 | c.915C>G (p.His305Gln) c.867+48C>G (n.867+48C>G) c.996C>G (p.His332Gln) c.822C>G (p.His274Gln) c.*97C>G (n.*97C>G) c.619C>G (n.619C>G) | |
| 17 | g.81933259G>T | CA401536465 | PYCR1 | c.915C>A (p.His305Gln) c.867+48C>A (n.867+48C>A) c.996C>A (p.His332Gln) c.822C>A (p.His274Gln) c.*97C>A (n.*97C>A) c.619C>A (n.619C>A) | |
| 17 | g.81933260T>A | CA401536466 | PYCR1 | c.914A>T (p.His305Leu) c.867+47A>T (n.867+47A>T) c.995A>T (p.His332Leu) c.821A>T (p.His274Leu) c.*96A>T (n.*96A>T) c.618A>T (n.618A>T) | |
| 17 | g.81933260T>C | CA401536467 | PYCR1 | c.914A>G (p.His305Arg) c.867+47A>G (n.867+47A>G) c.995A>G (p.His332Arg) c.821A>G (p.His274Arg) c.*96A>G (n.*96A>G) c.618A>G (n.618A>G) | |
| 17 | g.81933260T>G | CA401536468 | PYCR1 | c.914A>C (p.His305Pro) c.867+47A>C (n.867+47A>C) c.995A>C (p.His332Pro) c.821A>C (p.His274Pro) c.*96A>C (n.*96A>C) c.618A>C (n.618A>C) | |
| 17 | g.81933261G>A | CA8845232 | PYCR1 | c.913C>T (p.His305Tyr) c.867+46C>T (n.867+46C>T) c.994C>T (p.His332Tyr) c.820C>T (p.His274Tyr) c.*95C>T (n.*95C>T) c.617C>T (n.617C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933261G>C | CA401536470 | PYCR1 | c.913C>G (p.His305Asp) c.867+46C>G (n.867+46C>G) c.994C>G (p.His332Asp) c.820C>G (p.His274Asp) c.*95C>G (n.*95C>G) c.617C>G (n.617C>G) | |
| 17 | g.81933261G= | CA2278748892 | PYCR1 | c.913C= (p.His305=) c.867+46C= (n.867+46C=) c.994C= (p.His332=) c.820C= (p.His274=) c.*95C= (n.*95C=) c.617C= (n.617C=) | |
| 17 | g.81933261G>T | CA401536472 | PYCR1 | c.913C>A (p.His305Asn) c.867+46C>A (n.867+46C>A) c.994C>A (p.His332Asn) c.820C>A (p.His274Asn) c.*95C>A (n.*95C>A) c.617C>A (n.617C>A) | |
| 17 | g.81933262G>A | CA502333999 | PYCR1 | c.912C>T (p.Gly304=) c.867+45C>T (n.867+45C>T) c.993C>T (p.Gly331=) c.819C>T (p.Gly273=) c.*94C>T (n.*94C>T) c.616C>T (n.616C>T) | gnomAD v4 |
| 17 | g.81933262G>C | CA502334001 | PYCR1 | c.912C>G (p.Gly304=) c.867+45C>G (n.867+45C>G) c.993C>G (p.Gly331=) c.819C>G (p.Gly273=) c.*94C>G (n.*94C>G) c.616C>G (n.616C>G) | |
| 17 | g.81933262G= | CA2278748893 | PYCR1 | c.912C= (p.Gly304=) c.867+45C= (n.867+45C=) c.993C= (p.Gly331=) c.819C= (p.Gly273=) c.*94C= (n.*94C=) c.616C= (n.616C=) | |
| 17 | g.81933262G>T | CA502334003 | PYCR1 | c.912C>A (p.Gly304=) c.867+45C>A (n.867+45C>A) c.993C>A (p.Gly331=) c.819C>A (p.Gly273=) c.*94C>A (n.*94C>A) c.616C>A (n.616C>A) | dbSNP |
| 17 | g.81933263C>A | CA8845233 | PYCR1 | c.911G>T (p.Gly304Val) c.867+44G>T (n.867+44G>T) c.992G>T (p.Gly331Val) c.818G>T (p.Gly273Val) c.*93G>T (n.*93G>T) c.615G>T (n.615G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933263C= | CA2278748894 | PYCR1 | c.911G= (p.Gly304=) c.867+44G= (n.867+44G=) c.992G= (p.Gly331=) c.818G= (p.Gly273=) c.*93G= (n.*93G=) c.615G= (n.615G=) | |
| 17 | g.81933263C>G | CA401536474 | PYCR1 | c.911G>C (p.Gly304Ala) c.867+44G>C (n.867+44G>C) c.992G>C (p.Gly331Ala) c.818G>C (p.Gly273Ala) c.*93G>C (n.*93G>C) c.615G>C (n.615G>C) | |
| 17 | g.81933263C>T | CA401536475 | PYCR1 | c.911G>A (p.Gly304Asp) c.867+44G>A (n.867+44G>A) c.992G>A (p.Gly331Asp) c.818G>A (p.Gly273Asp) c.*93G>A (n.*93G>A) c.615G>A (n.615G>A) | dbSNP |
| 17 | g.81933264C>A | CA401536480 | PYCR1 | c.910G>T (p.Gly304Cys) c.867+43G>T (n.867+43G>T) c.991G>T (p.Gly331Cys) c.817G>T (p.Gly273Cys) c.*92G>T (n.*92G>T) c.614G>T (n.614G>T) | |
| 17 | g.81933264C>G | CA401536479 | PYCR1 | c.910G>C (p.Gly304Arg) c.867+43G>C (n.867+43G>C) c.991G>C (p.Gly331Arg) c.817G>C (p.Gly273Arg) c.*92G>C (n.*92G>C) c.614G>C (n.614G>C) | |
| 17 | g.81933264C>T | CA401536477 | PYCR1 | c.910G>A (p.Gly304Ser) c.867+43G>A (n.867+43G>A) c.991G>A (p.Gly331Ser) c.817G>A (p.Gly273Ser) c.*92G>A (n.*92G>A) c.614G>A (n.614G>A) | |
| 17 | g.81933265A= | CA2278748895 | PYCR1 | c.909T= (p.Ser303=) c.867+42T= (n.867+42T=) c.990T= (p.Ser330=) c.816T= (p.Ser272=) c.*91T= (n.*91T=) c.613T= (n.613T=) | |
| 17 | g.81933265A>C | CA502334020 | PYCR1 | c.909T>G (p.Ser303=) c.867+42T>G (n.867+42T>G) c.990T>G (p.Ser330=) c.816T>G (p.Ser272=) c.*91T>G (n.*91T>G) c.613T>G (n.613T>G) | |
| 17 | g.81933265A>G | CA502334018 | PYCR1 | c.909T>C (p.Ser303=) c.867+42T>C (n.867+42T>C) c.990T>C (p.Ser330=) c.816T>C (p.Ser272=) c.*91T>C (n.*91T>C) c.613T>C (n.613T>C) | dbSNP |
| 17 | g.81933265A>T | CA502334016 | PYCR1 | c.909T>A (p.Ser303=) c.867+42T>A (n.867+42T>A) c.990T>A (p.Ser330=) c.816T>A (p.Ser272=) c.*91T>A (n.*91T>A) c.613T>A (n.613T>A) | |
| 17 | g.81933266G>A | CA401536481 | PYCR1 | c.908C>T (p.Ser303Phe) c.867+41C>T (n.867+41C>T) c.989C>T (p.Ser330Phe) c.815C>T (p.Ser272Phe) c.*90C>T (n.*90C>T) c.612C>T (n.612C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933266G>C | CA401536482 | PYCR1 | c.908C>G (p.Ser303Cys) c.867+41C>G (n.867+41C>G) c.989C>G (p.Ser330Cys) c.815C>G (p.Ser272Cys) c.*90C>G (n.*90C>G) c.612C>G (n.612C>G) | gnomAD v4 |
| 17 | g.81933266G= | CA2278748896 | PYCR1 | c.908C= (p.Ser303=) c.867+41C= (n.867+41C=) c.989C= (p.Ser330=) c.815C= (p.Ser272=) c.*90C= (n.*90C=) c.612C= (n.612C=) | |
| 17 | g.81933266G>T | CA401536483 | PYCR1 | c.908C>A (p.Ser303Tyr) c.867+41C>A (n.867+41C>A) c.989C>A (p.Ser330Tyr) c.815C>A (p.Ser272Tyr) c.*90C>A (n.*90C>A) c.612C>A (n.612C>A) | |
| 17 | g.81933267A>C | CA401536484 | PYCR1 | c.907T>G (p.Ser303Ala) c.867+40T>G (n.867+40T>G) c.988T>G (p.Ser330Ala) c.814T>G (p.Ser272Ala) c.*89T>G (n.*89T>G) c.611T>G (n.611T>G) | |
| 17 | g.81933267A>G | CA401536485 | PYCR1 | c.907T>C (p.Ser303Pro) c.867+40T>C (n.867+40T>C) c.988T>C (p.Ser330Pro) c.814T>C (p.Ser272Pro) c.*89T>C (n.*89T>C) c.611T>C (n.611T>C) | |
| 17 | g.81933267A>T | CA401536487 | PYCR1 | c.907T>A (p.Ser303Thr) c.867+40T>A (n.867+40T>A) c.988T>A (p.Ser330Thr) c.814T>A (p.Ser272Thr) c.*89T>A (n.*89T>A) c.611T>A (n.611T>A) | |
| 17 | g.81933268A>C | CA502334037 | PYCR1 | c.906T>G (p.Pro302=) c.867+39T>G (n.867+39T>G) c.987T>G (p.Pro329=) c.813T>G (p.Pro271=) c.*88T>G (n.*88T>G) c.610T>G (n.610T>G) | |
| 17 | g.81933268A>G | CA502334039 | PYCR1 | c.906T>C (p.Pro302=) c.867+39T>C (n.867+39T>C) c.987T>C (p.Pro329=) c.813T>C (p.Pro271=) c.*88T>C (n.*88T>C) c.610T>C (n.610T>C) | |
| 17 | g.81933268A>T | CA502334042 | PYCR1 | c.906T>A (p.Pro302=) c.867+39T>A (n.867+39T>A) c.987T>A (p.Pro329=) c.813T>A (p.Pro271=) c.*88T>A (n.*88T>A) c.610T>A (n.610T>A) | |
| 17 | g.81933269G>A | CA401536488 | PYCR1 | c.905C>T (p.Pro302Leu) c.867+38C>T (n.867+38C>T) c.986C>T (p.Pro329Leu) c.812C>T (p.Pro271Leu) c.*87C>T (n.*87C>T) c.609C>T (n.609C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81933269G>C | CA401536490 | PYCR1 | c.905C>G (p.Pro302Arg) c.867+38C>G (n.867+38C>G) c.986C>G (p.Pro329Arg) c.812C>G (p.Pro271Arg) c.*87C>G (n.*87C>G) c.609C>G (n.609C>G) | |
| 17 | g.81933269G= | CA2278748897 | PYCR1 | c.905C= (p.Pro302=) c.867+38C= (n.867+38C=) c.986C= (p.Pro329=) c.812C= (p.Pro271=) c.*87C= (n.*87C=) c.609C= (n.609C=) | |
| 17 | g.81933269G>T | CA401536491 | PYCR1 | c.905C>A (p.Pro302His) c.867+38C>A (n.867+38C>A) c.986C>A (p.Pro329His) c.812C>A (p.Pro271His) c.*87C>A (n.*87C>A) c.609C>A (n.609C>A) | |
| 17 | g.81933270G>A | CA295134389 | PYCR1 | c.904C>T (p.Pro302Ser) c.867+37C>T (n.867+37C>T) c.985C>T (p.Pro329Ser) c.811C>T (p.Pro271Ser) c.*86C>T (n.*86C>T) c.608C>T (n.608C>T) | dbSNP |
| 17 | g.81933270G>C | CA401536493 | PYCR1 | c.904C>G (p.Pro302Ala) c.867+37C>G (n.867+37C>G) c.985C>G (p.Pro329Ala) c.811C>G (p.Pro271Ala) c.*86C>G (n.*86C>G) c.608C>G (n.608C>G) | |
| 17 | g.81933270G= | CA2278748898 | PYCR1 | c.904C= (p.Pro302=) c.867+37C= (n.867+37C=) c.985C= (p.Pro329=) c.811C= (p.Pro271=) c.*86C= (n.*86C=) c.608C= (n.608C=) | |
| 17 | g.81933270G>T | CA401536495 | PYCR1 | c.904C>A (p.Pro302Thr) c.867+37C>A (n.867+37C>A) c.985C>A (p.Pro329Thr) c.811C>A (p.Pro271Thr) c.*86C>A (n.*86C>A) c.608C>A (n.608C>A) | |
| 17 | g.81933271T>A | CA502334061 | PYCR1 | c.903A>T (p.Ser301=) c.867+36A>T (n.867+36A>T) c.984A>T (p.Ser328=) c.810A>T (p.Ser270=) c.*85A>T (n.*85A>T) c.607A>T (n.607A>T) | dbSNP |
| 17 | g.81933271T>C | CA8845234 | PYCR1 | c.903A>G (p.Ser301=) c.867+36A>G (n.867+36A>G) c.984A>G (p.Ser328=) c.810A>G (p.Ser270=) c.*85A>G (n.*85A>G) c.607A>G (n.607A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933271T>G | CA502334059 | PYCR1 | c.903A>C (p.Ser301=) c.867+36A>C (n.867+36A>C) c.984A>C (p.Ser328=) c.810A>C (p.Ser270=) c.*85A>C (n.*85A>C) c.607A>C (n.607A>C) | |
| 17 | g.81933271T= | CA2278748899 | PYCR1 | c.903A= (p.Ser301=) c.867+36A= (n.867+36A=) c.984A= (p.Ser328=) c.810A= (p.Ser270=) c.*85A= (n.*85A=) c.607A= (n.607A=) | |
| 17 | g.81933271_81933272delinsCA | CA2573154996 | PYCR1 | c.902_903delinsTG (p.Ser301Leu) c.867+35_867+36delinsTG (n.867+35_867+36delinsTG) c.983_984delinsTG (p.Ser328Leu) c.809_810delinsTG (p.Ser270Leu) c.*84_*85delinsTG (n.*84_*85delinsTG) c.606_607delinsTG (n.606_607delinsTG) | ClinVar |
| 17 | g.81933272G>A | CA8845235 | PYCR1 | c.902C>T (p.Ser301Leu) c.867+35C>T (n.867+35C>T) c.983C>T (p.Ser328Leu) c.809C>T (p.Ser270Leu) c.*84C>T (n.*84C>T) c.606C>T (n.606C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933272G>C | CA401536497 | PYCR1 | c.902C>G (p.Ser301Ter) c.867+35C>G (n.867+35C>G) c.983C>G (p.Ser328Ter) c.809C>G (p.Ser270Ter) c.*84C>G (n.*84C>G) c.606C>G (n.606C>G) c.809C>G (p.Ser270Trp) c.902C>G (p.Ser301Trp) c.983C>G (p.Ser328Trp) | |
| 17 | g.81933272G= | CA2278748900 | PYCR1 | c.902C= (p.Ser301=) c.867+35C= (n.867+35C=) c.983C= (p.Ser328=) c.809C= (p.Ser270=) c.*84C= (n.*84C=) c.606C= (n.606C=) | |
| 17 | g.81933272G>T | CA401536498 | PYCR1 | c.902C>A (p.Ser301Ter) c.867+35C>A (n.867+35C>A) c.983C>A (p.Ser328Ter) c.809C>A (p.Ser270Ter) c.*84C>A (n.*84C>A) c.606C>A (n.606C>A) | gnomAD v4 |
| 17 | g.81933272_81933273insCG | CA2640545569 | PYCR1 | c.902_903insGC (p.Pro302HisfsTer?) c.867+35_867+36insGC (n.867+35_867+36insGC) c.983_984insGC (p.Pro329HisfsTer?) c.809_810insGC (p.Pro271HisfsTer?) c.*84_*85insGC (n.*84_*85insGC) c.606_607insGC (n.606_607insGC) c.809_810insGC (p.Pro271ArgfsTer?) c.902_903insGC (p.Pro302ArgfsTer?) c.983_984insGC (p.Pro329ArgfsTer?) | gnomAD v4 |
| 17 | g.81933273A>C | CA401536501 | PYCR1 | c.901T>G (p.Ser301Ala) c.867+34T>G (n.867+34T>G) c.982T>G (p.Ser328Ala) c.808T>G (p.Ser270Ala) c.*83T>G (n.*83T>G) c.605T>G (n.605T>G) | |
| 17 | g.81933273A>G | CA401536503 | PYCR1 | c.901T>C (p.Ser301Pro) c.867+34T>C (n.867+34T>C) c.982T>C (p.Ser328Pro) c.808T>C (p.Ser270Pro) c.*83T>C (n.*83T>C) c.605T>C (n.605T>C) | gnomAD v4 |
| 17 | g.81933273A>T | CA401536504 | PYCR1 | c.901T>A (p.Ser301Thr) c.867+34T>A (n.867+34T>A) c.982T>A (p.Ser328Thr) c.808T>A (p.Ser270Thr) c.*83T>A (n.*83T>A) c.605T>A (n.605T>A) | |
| 17 | g.81933274C>A | CA502334071 | PYCR1 | c.900G>T (p.Leu300=) c.867+33G>T (n.867+33G>T) c.981G>T (p.Leu327=) c.807G>T (p.Leu269=) c.*82G>T (n.*82G>T) c.604G>T (n.604G>T) | dbSNP gnomAD v2 |
| 17 | g.81933274C= | CA2278748901 | PYCR1 | c.900G= (p.Leu300=) c.867+33G= (n.867+33G=) c.981G= (p.Leu327=) c.807G= (p.Leu269=) c.*82G= (n.*82G=) c.604G= (n.604G=) | |
| 17 | g.81933274C>G | CA502334073 | PYCR1 | c.900G>C (p.Leu300=) c.867+33G>C (n.867+33G>C) c.981G>C (p.Leu327=) c.807G>C (p.Leu269=) c.*82G>C (n.*82G>C) c.604G>C (n.604G>C) | |
| 17 | g.81933274C>T | CA8845236 | PYCR1 | c.900G>A (p.Leu300=) c.867+33G>A (n.867+33G>A) c.981G>A (p.Leu327=) c.807G>A (p.Leu269=) c.*82G>A (n.*82G>A) c.604G>A (n.604G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933275A= | CA2278748902 | PYCR1 | c.899T= (p.Leu300=) c.867+32T= (n.867+32T=) c.980T= (p.Leu327=) c.806T= (p.Leu269=) c.*81T= (n.*81T=) c.603T= (n.603T=) | |
| 17 | g.81933275A>C | CA401536508 | PYCR1 | c.899T>G (p.Leu300Arg) c.867+32T>G (n.867+32T>G) c.980T>G (p.Leu327Arg) c.806T>G (p.Leu269Arg) c.*81T>G (n.*81T>G) c.603T>G (n.603T>G) | |
| 17 | g.81933275A>G | CA8845237 | PYCR1 | c.899T>C (p.Leu300Pro) c.867+32T>C (n.867+32T>C) c.980T>C (p.Leu327Pro) c.806T>C (p.Leu269Pro) c.*81T>C (n.*81T>C) c.603T>C (n.603T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933275A>T | CA401536507 | PYCR1 | c.899T>A (p.Leu300Gln) c.867+32T>A (n.867+32T>A) c.980T>A (p.Leu327Gln) c.806T>A (p.Leu269Gln) c.*81T>A (n.*81T>A) c.603T>A (n.603T>A) | |
| 17 | g.81933276G>A | CA502334085 | PYCR1 | c.898C>T (p.Leu300=) c.867+31C>T (n.867+31C>T) c.979C>T (p.Leu327=) c.805C>T (p.Leu269=) c.*80C>T (n.*80C>T) c.602C>T (n.602C>T) | |
| 17 | g.81933276G>C | CA401536510 | PYCR1 | c.898C>G (p.Leu300Val) c.867+31C>G (n.867+31C>G) c.979C>G (p.Leu327Val) c.805C>G (p.Leu269Val) c.*80C>G (n.*80C>G) c.602C>G (n.602C>G) | |
| 17 | g.81933276G>T | CA401536512 | PYCR1 | c.898C>A (p.Leu300Met) c.867+31C>A (n.867+31C>A) c.979C>A (p.Leu327Met) c.805C>A (p.Leu269Met) c.*80C>A (n.*80C>A) c.602C>A (n.602C>A) | |
| 17 | g.81933277A>C | CA502334090 | PYCR1 | c.897T>G (p.Ala299=) c.867+30T>G (n.867+30T>G) c.978T>G (p.Ala326=) c.804T>G (p.Ala268=) c.*79T>G (n.*79T>G) c.601T>G (n.601T>G) | |
| 17 | g.81933277A>G | CA502334088 | PYCR1 | c.897T>C (p.Ala299=) c.867+30T>C (n.867+30T>C) c.978T>C (p.Ala326=) c.804T>C (p.Ala268=) c.*79T>C (n.*79T>C) c.601T>C (n.601T>C) | |
| 17 | g.81933277A>T | CA502334089 | PYCR1 | c.897T>A (p.Ala299=) c.867+30T>A (n.867+30T>A) c.978T>A (p.Ala326=) c.804T>A (p.Ala268=) c.*79T>A (n.*79T>A) c.601T>A (n.601T>A) | gnomAD v4 |
| 17 | g.81933278G>A | CA401536513 | PYCR1 | c.896C>T (p.Ala299Val) c.867+29C>T (n.867+29C>T) c.977C>T (p.Ala326Val) c.803C>T (p.Ala268Val) c.*78C>T (n.*78C>T) c.600C>T (n.600C>T) | dbSNP |
| 17 | g.81933278G>C | CA401536514 | PYCR1 | c.896C>G (p.Ala299Gly) c.867+29C>G (n.867+29C>G) c.977C>G (p.Ala326Gly) c.803C>G (p.Ala268Gly) c.*78C>G (n.*78C>G) c.600C>G (n.600C>G) | |
| 17 | g.81933278G= | CA2278748903 | PYCR1 | c.896C= (p.Ala299=) c.867+29C= (n.867+29C=) c.977C= (p.Ala326=) c.803C= (p.Ala268=) c.*78C= (n.*78C=) c.600C= (n.600C=) | |
| 17 | g.81933278G>T | CA401536516 | PYCR1 | c.896C>A (p.Ala299Asp) c.867+29C>A (n.867+29C>A) c.977C>A (p.Ala326Asp) c.803C>A (p.Ala268Asp) c.*78C>A (n.*78C>A) c.600C>A (n.600C>A) | |
| 17 | g.81933279C>A | CA401536518 | PYCR1 | c.895G>T (p.Ala299Ser) c.867+28G>T (n.867+28G>T) c.976G>T (p.Ala326Ser) c.802G>T (p.Ala268Ser) c.*77G>T (n.*77G>T) c.599G>T (n.599G>T) | |
| 17 | g.81933279C= | CA2278748904 | PYCR1 | c.895G= (p.Ala299=) c.867+28G= (n.867+28G=) c.976G= (p.Ala326=) c.802G= (p.Ala268=) c.*77G= (n.*77G=) c.599G= (n.599G=) | |
| 17 | g.81933279C>G | CA401536520 | PYCR1 | c.895G>C (p.Ala299Pro) c.867+28G>C (n.867+28G>C) c.976G>C (p.Ala326Pro) c.802G>C (p.Ala268Pro) c.*77G>C (n.*77G>C) c.599G>C (n.599G>C) | gnomAD v4 |
| 17 | g.81933279C>T | CA8845238 | PYCR1 | c.895G>A (p.Ala299Thr) c.867+28G>A (n.867+28G>A) c.976G>A (p.Ala326Thr) c.802G>A (p.Ala268Thr) c.*77G>A (n.*77G>A) c.599G>A (n.599G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933280G>A | CA8845239 | PYCR1 | c.894C>T (p.Thr298=) c.867+27C>T (n.867+27C>T) c.975C>T (p.Thr325=) c.801C>T (p.Thr267=) c.*76C>T (n.*76C>T) c.598C>T (n.598C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933280G>C | CA502334106 | PYCR1 | c.894C>G (p.Thr298=) c.867+27C>G (n.867+27C>G) c.975C>G (p.Thr325=) c.801C>G (p.Thr267=) c.*76C>G (n.*76C>G) c.598C>G (n.598C>G) | |
| 17 | g.81933280G= | CA2278748905 | PYCR1 | c.894C= (p.Thr298=) c.867+27C= (n.867+27C=) c.975C= (p.Thr325=) c.801C= (p.Thr267=) c.*76C= (n.*76C=) c.598C= (n.598C=) | |
| 17 | g.81933280G>T | CA502334108 | PYCR1 | c.894C>A (p.Thr298=) c.867+27C>A (n.867+27C>A) c.975C>A (p.Thr325=) c.801C>A (p.Thr267=) c.*76C>A (n.*76C>A) c.598C>A (n.598C>A) | |
| 17 | g.81933280_81933282del | CA2526980166 | PYCR1 | c.892_894del (p.Thr298del) c.867+25_867+27del (n.867+25_867+27del) c.973_975del (p.Thr325del) c.799_801del (p.Thr267del) c.*74_*76del (n.*74_*76del) c.596_598del (n.596_598del) | |
| 17 | g.81933281G>A | CA401536521 | PYCR1 | c.893C>T (p.Thr298Ile) c.867+26C>T (n.867+26C>T) c.974C>T (p.Thr325Ile) c.800C>T (p.Thr267Ile) c.*75C>T (n.*75C>T) c.597C>T (n.597C>T) | |
| 17 | g.81933281G>C | CA401536522 | PYCR1 | c.893C>G (p.Thr298Ser) c.867+26C>G (n.867+26C>G) c.974C>G (p.Thr325Ser) c.800C>G (p.Thr267Ser) c.*75C>G (n.*75C>G) c.597C>G (n.597C>G) | gnomAD v4 |
| 17 | g.81933281G>T | CA401536524 | PYCR1 | c.893C>A (p.Thr298Asn) c.867+26C>A (n.867+26C>A) c.974C>A (p.Thr325Asn) c.800C>A (p.Thr267Asn) c.*75C>A (n.*75C>A) c.597C>A (n.597C>A) | |
| 17 | g.81933282T>A | CA8845240 | PYCR1 | c.892A>T (p.Thr298Ser) c.867+25A>T (n.867+25A>T) c.973A>T (p.Thr325Ser) c.799A>T (p.Thr267Ser) c.*74A>T (n.*74A>T) c.596A>T (n.596A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.81933282T>C | CA401536526 | PYCR1 | c.892A>G (p.Thr298Ala) c.867+25A>G (n.867+25A>G) c.973A>G (p.Thr325Ala) c.799A>G (p.Thr267Ala) c.*74A>G (n.*74A>G) c.596A>G (n.596A>G) | |
| 17 | g.81933282T>G | CA401536527 | PYCR1 | c.892A>C (p.Thr298Pro) c.867+25A>C (n.867+25A>C) c.973A>C (p.Thr325Pro) c.799A>C (p.Thr267Pro) c.*74A>C (n.*74A>C) c.596A>C (n.596A>C) | |
| 17 | g.81933282T= | CA2278748906 | PYCR1 | c.892A= (p.Thr298=) c.867+25A= (n.867+25A=) c.973A= (p.Thr325=) c.799A= (p.Thr267=) c.*74A= (n.*74A=) c.596A= (n.596A=) | |
| 17 | g.81933283C>A | CA502334117 | PYCR1 | c.891G>T (p.Gly297=) c.867+24G>T (n.867+24G>T) c.972G>T (p.Gly324=) c.798G>T (p.Gly266=) c.*73G>T (n.*73G>T) c.595G>T (n.595G>T) | |
| 17 | g.81933283C= | CA2278748907 | PYCR1 | c.891G= (p.Gly297=) c.867+24G= (n.867+24G=) c.972G= (p.Gly324=) c.798G= (p.Gly266=) c.*73G= (n.*73G=) c.595G= (n.595G=) | |
| 17 | g.81933283C>G | CA502334120 | PYCR1 | c.891G>C (p.Gly297=) c.867+24G>C (n.867+24G>C) c.972G>C (p.Gly324=) c.798G>C (p.Gly266=) c.*73G>C (n.*73G>C) c.595G>C (n.595G>C) | |
| 17 | g.81933283C>T | CA502334123 | PYCR1 | c.891G>A (p.Gly297=) c.867+24G>A (n.867+24G>A) c.972G>A (p.Gly324=) c.798G>A (p.Gly266=) c.*73G>A (n.*73G>A) c.595G>A (n.595G>A) | dbSNP |