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 |
|---|---|---|---|---|---|
| 14 | g.50914665G>A | CA706615274 | PYGL | c.1518+36C>T (n.1518+36C>T) c.1416+36C>T (n.1416+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914665G= | CA2136418851 | PYGL | c.1518+36C= (n.1518+36C=) c.1416+36C= (n.1416+36C=) | |
| 14 | g.50914665G>T | CA2624831156 | PYGL | c.1518+36C>A (n.1518+36C>A) c.1416+36C>A (n.1416+36C>A) | gnomAD v4 |
| 14 | g.50914666T>G | CA2624831158 | PYGL | c.1518+35A>C (n.1518+35A>C) c.1416+35A>C (n.1416+35A>C) | gnomAD v4 |
| 14 | g.50914667C>T | CA2624831159 | PYGL | c.1518+34G>A (n.1518+34G>A) c.1416+34G>A (n.1416+34G>A) | gnomAD v4 |
| 14 | g.50914669G>T | CA2575525144 | PYGL | c.1518+32C>A (n.1518+32C>A) c.1416+32C>A (n.1416+32C>A) | |
| 14 | g.50914670G>A | CA2624831160 | PYGL | c.1518+31C>T (n.1518+31C>T) c.1416+31C>T (n.1416+31C>T) | gnomAD v4 |
| 14 | g.50914670G>T | CA2624831161 | PYGL | c.1518+31C>A (n.1518+31C>A) c.1416+31C>A (n.1416+31C>A) | gnomAD v4 |
| 14 | g.50914671C>A | CA963068020 | PYGL | c.1518+30G>T (n.1518+30G>T) c.1416+30G>T (n.1416+30G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914671C= | CA2136418852 | PYGL | c.1518+30G= (n.1518+30G=) c.1416+30G= (n.1416+30G=) | |
| 14 | g.50914671C>G | CA2575525146 | PYGL | c.1518+30G>C (n.1518+30G>C) c.1416+30G>C (n.1416+30G>C) | |
| 14 | g.50914671C>T | CA2575525147 | PYGL | c.1518+30G>A (n.1518+30G>A) c.1416+30G>A (n.1416+30G>A) | gnomAD v4 |
| 14 | g.50914672C= | CA2136418853 | PYGL | c.1518+29G= (n.1518+29G=) c.1416+29G= (n.1416+29G=) | |
| 14 | g.50914672C>G | CA7183450 | PYGL | c.1518+29G>C (n.1518+29G>C) c.1416+29G>C (n.1416+29G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.50914672C>T | CA2575525149 | PYGL | c.1518+29G>A (n.1518+29G>A) c.1416+29G>A (n.1416+29G>A) | |
| 14 | g.50914673T>C | CA2624831163 | PYGL | c.1518+28A>G (n.1518+28A>G) c.1416+28A>G (n.1416+28A>G) | gnomAD v4 |
| 14 | g.50914674C>T | CA2624831165 | PYGL | c.1518+27G>A (n.1518+27G>A) c.1416+27G>A (n.1416+27G>A) | gnomAD v4 |
| 14 | g.50914675C= | CA2136418854 | PYGL | c.1518+26G= (n.1518+26G=) c.1416+26G= (n.1416+26G=) | |
| 14 | g.50914675C>G | CA2136418855 | PYGL | c.1518+26G>C (n.1518+26G>C) c.1416+26G>C (n.1416+26G>C) | dbSNP |
| 14 | g.50914675C>T | CA613882072 | PYGL | c.1518+26G>A (n.1518+26G>A) c.1416+26G>A (n.1416+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914676T>G | CA2136418857 | PYGL | c.1518+25A>C (n.1518+25A>C) c.1416+25A>C (n.1416+25A>C) | dbSNP |
| 14 | g.50914676T= | CA2136418856 | PYGL | c.1518+25A= (n.1518+25A=) c.1416+25A= (n.1416+25A=) | |
| 14 | g.50914679C>T | CA2624831169 | PYGL | c.1518+22G>A (n.1518+22G>A) c.1416+22G>A (n.1416+22G>A) | gnomAD v4 |
| 14 | g.50914680C>G | CA2624831171 | PYGL | c.1518+21G>C (n.1518+21G>C) c.1416+21G>C (n.1416+21G>C) | gnomAD v4 |
| 14 | g.50914680C>T | CA2575525150 | PYGL | c.1518+21G>A (n.1518+21G>A) c.1416+21G>A (n.1416+21G>A) | gnomAD v4 |
| 14 | g.50914682C= | CA2136418858 | PYGL | c.1518+19G= (n.1518+19G=) c.1416+19G= (n.1416+19G=) | |
| 14 | g.50914682C>T | CA2136418859 | PYGL | c.1518+19G>A (n.1518+19G>A) c.1416+19G>A (n.1416+19G>A) | dbSNP gnomAD v4 |
| 14 | g.50914683T>C | CA2624831175 | PYGL | c.1518+18A>G (n.1518+18A>G) c.1416+18A>G (n.1416+18A>G) | gnomAD v4 |
| 14 | g.50914684C= | CA2136418860 | PYGL | c.1518+17G= (n.1518+17G=) c.1416+17G= (n.1416+17G=) | |
| 14 | g.50914684C>G | CA2801554010 | PYGL | c.1518+17G>C (n.1518+17G>C) c.1416+17G>C (n.1416+17G>C) | |
| 14 | g.50914684C>T | CA260826143 | PYGL | c.1518+17G>A (n.1518+17G>A) c.1416+17G>A (n.1416+17G>A) | dbSNP gnomAD v4 |
| 14 | g.50914686G>T | CA2624831176 | PYGL | c.1518+15C>A (n.1518+15C>A) c.1416+15C>A (n.1416+15C>A) | gnomAD v4 |
| 14 | g.50914687C>T | CA2624831177 | PYGL | c.1518+14G>A (n.1518+14G>A) c.1416+14G>A (n.1416+14G>A) | gnomAD v4 |
| 14 | g.50914688A= | CA2136418861 | PYGL | c.1518+13T= (n.1518+13T=) c.1416+13T= (n.1416+13T=) | |
| 14 | g.50914688A>C | CA963068021 | PYGL | c.1518+13T>G (n.1518+13T>G) c.1416+13T>G (n.1416+13T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914689C= | CA2136418862 | PYGL | c.1518+12G= (n.1518+12G=) c.1416+12G= (n.1416+12G=) | |
| 14 | g.50914689C>T | CA7183451 | PYGL | c.1518+12G>A (n.1518+12G>A) c.1416+12G>A (n.1416+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914690T>C | CA2136418865 | PYGL | c.1518+11A>G (n.1518+11A>G) c.1416+11A>G (n.1416+11A>G) | dbSNP |
| 14 | g.50914690T>G | CA2136418864 | PYGL | c.1518+11A>C (n.1518+11A>C) c.1416+11A>C (n.1416+11A>C) | dbSNP gnomAD v4 |
| 14 | g.50914690T= | CA2136418863 | PYGL | c.1518+11A= (n.1518+11A=) c.1416+11A= (n.1416+11A=) | |
| 14 | g.50914694C= | CA2136418866 | PYGL | c.1518+7G= (n.1518+7G=) c.1416+7G= (n.1416+7G=) | |
| 14 | g.50914694C>T | CA260826154 | PYGL | c.1518+7G>A (n.1518+7G>A) c.1416+7G>A (n.1416+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914695A= | CA2136418867 | PYGL | c.1518+6T= (n.1518+6T=) c.1416+6T= (n.1416+6T=) | |
| 14 | g.50914695A>G | CA260826157 | PYGL | c.1518+6T>C (n.1518+6T>C) c.1416+6T>C (n.1416+6T>C) | dbSNP gnomAD v4 |
| 14 | g.50914696G>A | CA2624831181 | PYGL | c.1518+5C>T (n.1518+5C>T) c.1416+5C>T (n.1416+5C>T) | gnomAD v4 |
| 14 | g.50914697T>G | CA2624831183 | PYGL | c.1518+4A>C (n.1518+4A>C) c.1416+4A>C (n.1416+4A>C) | gnomAD v4 |
| 14 | g.50914699A= | CA2136418868 | PYGL | c.1518+2T= (n.1518+2T=) c.1416+2T= (n.1416+2T=) | |
| 14 | g.50914699A>C | CA389686962 | PYGL | c.1518+2T>G (n.1518+2T>G) c.1416+2T>G (n.1416+2T>G) | |
| 14 | g.50914699A>G | CA389686963 | PYGL | c.1518+2T>C (n.1518+2T>C) c.1416+2T>C (n.1416+2T>C) | |
| 14 | g.50914699A>T | CA389686964 | PYGL | c.1518+2T>A (n.1518+2T>A) c.1416+2T>A (n.1416+2T>A) | dbSNP |
| 14 | g.50914700C>A | CA7183452 | PYGL | c.1518+1G>T (n.1518+1G>T) c.1416+1G>T (n.1416+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914700C= | CA2136418869 | PYGL | c.1518+1G= (n.1518+1G=) c.1416+1G= (n.1416+1G=) | |
| 14 | g.50914700C>G | CA389686965 | PYGL | c.1518+1G>C (n.1518+1G>C) c.1416+1G>C (n.1416+1G>C) | |
| 14 | g.50914700C>T | CA389686966 | PYGL | c.1518+1G>A (n.1518+1G>A) c.1416+1G>A (n.1416+1G>A) | gnomAD v4 |
| 14 | g.50914701del | CA2573053915 | PYGL | c.1518+1del c.1416+1del | ClinVar dbSNP gnomAD v4 |
| 14 | g.50914701C>A | CA389686967 | PYGL | c.1518G>T (p.Glu506Asp) c.1416G>T (p.Glu472Asp) | |
| 14 | g.50914701C= | CA2136418870 | PYGL | c.1518G= (p.Glu506=) c.1416G= (p.Glu472=) | |
| 14 | g.50914701C>G | CA389686968 | PYGL | c.1518G>C (p.Glu506Asp) c.1416G>C (p.Glu472Asp) | |
| 14 | g.50914701C>T | CA7183453 | PYGL | c.1518G>A (p.Glu506=) c.1416G>A (p.Glu472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914702T>A | CA389686969 | PYGL | c.1517A>T (p.Glu506Val) c.1415A>T (p.Glu472Val) | |
| 14 | g.50914702T>C | CA389686970 | PYGL | c.1517A>G (p.Glu506Gly) c.1415A>G (p.Glu472Gly) | |
| 14 | g.50914702T>G | CA389686971 | PYGL | c.1517A>C (p.Glu506Ala) c.1415A>C (p.Glu472Ala) | |
| 14 | g.50914703C>A | CA389686972 | PYGL | c.1516G>T (p.Glu506Ter) c.1414G>T (p.Glu472Ter) | |
| 14 | g.50914703C>G | CA389686974 | PYGL | c.1516G>C (p.Glu506Gln) c.1414G>C (p.Glu472Gln) | |
| 14 | g.50914703C>T | CA389686973 | PYGL | c.1516G>A (p.Glu506Lys) c.1414G>A (p.Glu472Lys) | |
| 14 | g.50914704T>A | CA486381852 | PYGL | c.1515A>T (p.Ala505=) c.1413A>T (p.Ala471=) | |
| 14 | g.50914704T>C | CA486381853 | PYGL | c.1515A>G (p.Ala505=) c.1413A>G (p.Ala471=) | gnomAD v4 |
| 14 | g.50914704T>G | CA486381854 | PYGL | c.1515A>C (p.Ala505=) c.1413A>C (p.Ala471=) | |
| 14 | g.50914705G>A | CA7183454 | PYGL | c.1514C>T (p.Ala505Val) c.1412C>T (p.Ala471Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914705G>C | CA389686977 | PYGL | c.1514C>G (p.Ala505Gly) c.1412C>G (p.Ala471Gly) | |
| 14 | g.50914705G= | CA2136418871 | PYGL | c.1514C= (p.Ala505=) c.1412C= (p.Ala471=) | |
| 14 | g.50914705G>T | CA389686975 | PYGL | c.1514C>A (p.Ala505Glu) c.1412C>A (p.Ala471Glu) | |
| 14 | g.50914706C>A | CA389686978 | PYGL | c.1513G>T (p.Ala505Ser) c.1411G>T (p.Ala471Ser) | |
| 14 | g.50914706C>G | CA389686979 | PYGL | c.1513G>C (p.Ala505Pro) c.1411G>C (p.Ala471Pro) | |
| 14 | g.50914706C>T | CA389686980 | PYGL | c.1513G>A (p.Ala505Thr) c.1411G>A (p.Ala471Thr) | |
| 14 | g.50914707T>A | CA486381858 | PYGL | c.1512A>T (p.Ile504=) c.1410A>T (p.Ile470=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914707T>C | CA389686981 | PYGL | c.1512A>G (p.Ile504Met) c.1410A>G (p.Ile470Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914707T>G | CA486381859 | PYGL | c.1512A>C (p.Ile504=) c.1410A>C (p.Ile470=) | |
| 14 | g.50914707T= | CA2136418872 | PYGL | c.1512A= (p.Ile504=) c.1410A= (p.Ile470=) | |
| 14 | g.50914708A>C | CA389686982 | PYGL | c.1511T>G (p.Ile504Arg) c.1409T>G (p.Ile470Arg) | |
| 14 | g.50914708A>G | CA389686983 | PYGL | c.1511T>C (p.Ile504Thr) c.1409T>C (p.Ile470Thr) | gnomAD v4 |
| 14 | g.50914708A>T | CA389686984 | PYGL | c.1511T>A (p.Ile504Lys) c.1409T>A (p.Ile470Lys) | |
| 14 | g.50914709T>A | CA389686985 | PYGL | c.1510A>T (p.Ile504Leu) c.1408A>T (p.Ile470Leu) | |
| 14 | g.50914709T>C | CA389686986 | PYGL | c.1510A>G (p.Ile504Val) c.1408A>G (p.Ile470Val) | COSMIC |
| 14 | g.50914709T>G | CA389686987 | PYGL | c.1510A>C (p.Ile504Leu) c.1408A>C (p.Ile470Leu) | |
| 14 | g.50914710G>A | CA486381861 | PYGL | c.1509C>T (p.Leu503=) c.1407C>T (p.Leu469=) | |
| 14 | g.50914710G>C | CA486381862 | PYGL | c.1509C>G (p.Leu503=) c.1407C>G (p.Leu469=) | |
| 14 | g.50914710G>T | CA486381863 | PYGL | c.1509C>A (p.Leu503=) c.1407C>A (p.Leu469=) | |
| 14 | g.50914711A>C | CA389686990 | PYGL | c.1508T>G (p.Leu503Arg) c.1406T>G (p.Leu469Arg) | |
| 14 | g.50914711A>G | CA389686989 | PYGL | c.1508T>C (p.Leu503Pro) c.1406T>C (p.Leu469Pro) | |
| 14 | g.50914711A>T | CA389686988 | PYGL | c.1508T>A (p.Leu503His) c.1406T>A (p.Leu469His) | |
| 14 | g.50914712G>A | CA389686991 | PYGL | c.1507C>T (p.Leu503Phe) c.1405C>T (p.Leu469Phe) | |
| 14 | g.50914712G>C | CA389686992 | PYGL | c.1507C>G (p.Leu503Val) c.1405C>G (p.Leu469Val) | gnomAD v4 |
| 14 | g.50914712G>T | CA389686993 | PYGL | c.1507C>A (p.Leu503Ile) c.1405C>A (p.Leu469Ile) | COSMIC |
| 14 | g.50914713C>A | CA389686994 | PYGL | c.1506G>T (p.Glu502Asp) c.1404G>T (p.Glu468Asp) | |
| 14 | g.50914713C>G | CA389686995 | PYGL | c.1506G>C (p.Glu502Asp) c.1404G>C (p.Glu468Asp) | |
| 14 | g.50914713C>T | CA486381865 | PYGL | c.1506G>A (p.Glu502=) c.1404G>A (p.Glu468=) | |
| 14 | g.50914714T>A | CA389686996 | PYGL | c.1505A>T (p.Glu502Val) c.1403A>T (p.Glu468Val) | |
| 14 | g.50914714T>C | CA389686997 | PYGL | c.1505A>G (p.Glu502Gly) c.1403A>G (p.Glu468Gly) | |
| 14 | g.50914714T>G | CA389686998 | PYGL | c.1505A>C (p.Glu502Ala) c.1403A>C (p.Glu468Ala) | |
| 14 | g.50914715C>A | CA389686999 | PYGL | c.1504G>T (p.Glu502Ter) c.1402G>T (p.Glu468Ter) | |
| 14 | g.50914715C>G | CA389687000 | PYGL | c.1504G>C (p.Glu502Gln) c.1402G>C (p.Glu468Gln) | |
| 14 | g.50914715C>T | CA389687001 | PYGL | c.1504G>A (p.Glu502Lys) c.1402G>A (p.Glu468Lys) | |
| 14 | g.50914718_50914726del | CA2624831204 | PYGL | c.1496_1504del (p.Gly499_Ala501del) c.1394_1402del (p.Gly465_Ala467del) | gnomAD v4 |
| 14 | g.50914716T>A | CA486381868 | PYGL | c.1503A>T (p.Ala501=) c.1401A>T (p.Ala467=) | |
| 14 | g.50914716T>C | CA486381869 | PYGL | c.1503A>G (p.Ala501=) c.1401A>G (p.Ala467=) | |
| 14 | g.50914716T>G | CA486381870 | PYGL | c.1503A>C (p.Ala501=) c.1401A>C (p.Ala467=) | |
| 14 | g.50914717G>A | CA389687003 | PYGL | c.1502C>T (p.Ala501Val) c.1400C>T (p.Ala467Val) | |
| 14 | g.50914717G>C | CA389687004 | PYGL | c.1502C>G (p.Ala501Gly) c.1400C>G (p.Ala467Gly) | |
| 14 | g.50914717G>T | CA389687002 | PYGL | c.1502C>A (p.Ala501Glu) c.1400C>A (p.Ala467Glu) | |
| 14 | g.50914718C>A | CA389687005 | PYGL | c.1501G>T (p.Ala501Ser) c.1399G>T (p.Ala467Ser) | |
| 14 | g.50914718C>G | CA389687006 | PYGL | c.1501G>C (p.Ala501Pro) c.1399G>C (p.Ala467Pro) | |
| 14 | g.50914718C>T | CA389687007 | PYGL | c.1501G>A (p.Ala501Thr) c.1399G>A (p.Ala467Thr) | |
| 14 | g.50914719A>C | CA486381873 | PYGL | c.1500T>G (p.Leu500=) c.1398T>G (p.Leu466=) | |
| 14 | g.50914719A>G | CA486381874 | PYGL | c.1500T>C (p.Leu500=) c.1398T>C (p.Leu466=) | |
| 14 | g.50914719A>T | CA486381875 | PYGL | c.1500T>A (p.Leu500=) c.1398T>A (p.Leu466=) | |
| 14 | g.50914720A>C | CA389687008 | PYGL | c.1499T>G (p.Leu500Arg) c.1397T>G (p.Leu466Arg) | |
| 14 | g.50914720A>G | CA389687009 | PYGL | c.1499T>C (p.Leu500Pro) c.1397T>C (p.Leu466Pro) | |
| 14 | g.50914720A>T | CA389687010 | PYGL | c.1499T>A (p.Leu500His) c.1397T>A (p.Leu466His) | |
| 14 | g.50914721G>A | CA389687011 | PYGL | c.1498C>T (p.Leu500Phe) c.1396C>T (p.Leu466Phe) | gnomAD v4 |
| 14 | g.50914721G>C | CA389687012 | PYGL | c.1498C>G (p.Leu500Val) c.1396C>G (p.Leu466Val) | |
| 14 | g.50914721G>T | CA389687013 | PYGL | c.1498C>A (p.Leu500Ile) c.1396C>A (p.Leu466Ile) | |
| 14 | g.50914722T>A | CA486381879 | PYGL | c.1497A>T (p.Gly499=) c.1395A>T (p.Gly465=) | |
| 14 | g.50914722T>C | CA486381878 | PYGL | c.1497A>G (p.Gly499=) c.1395A>G (p.Gly465=) | |
| 14 | g.50914722T>G | CA486381877 | PYGL | c.1497A>C (p.Gly499=) c.1395A>C (p.Gly465=) | |
| 14 | g.50914723C>A | CA389687015 | PYGL | c.1496G>T (p.Gly499Val) c.1394G>T (p.Gly465Val) | |
| 14 | g.50914723C= | CA2136418873 | PYGL | c.1496G= (p.Gly499=) c.1394G= (p.Gly465=) | |
| 14 | g.50914723C>G | CA260826165 | PYGL | c.1496G>C (p.Gly499Ala) c.1394G>C (p.Gly465Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50914723C>T | CA389687017 | PYGL | c.1496G>A (p.Gly499Glu) c.1394G>A (p.Gly465Glu) | dbSNP |
| 14 | g.50914724C>A | CA389687020 | PYGL | c.1495G>T (p.Gly499Ter) c.1393G>T (p.Gly465Ter) | |
| 14 | g.50914724C>G | CA389687021 | PYGL | c.1495G>C (p.Gly499Arg) c.1393G>C (p.Gly465Arg) | |
| 14 | g.50914724C>T | CA389687019 | PYGL | c.1495G>A (p.Gly499Arg) c.1393G>A (p.Gly465Arg) | |
| 14 | g.50914725T>A | CA486381883 | PYGL | c.1494A>T (p.Pro498=) c.1392A>T (p.Pro464=) | |
| 14 | g.50914725T>C | CA486381882 | PYGL | c.1494A>G (p.Pro498=) c.1392A>G (p.Pro464=) | |
| 14 | g.50914725T>G | CA486381881 | PYGL | c.1494A>C (p.Pro498=) c.1392A>C (p.Pro464=) | |
| 14 | g.50914726G>A | CA389687023 | PYGL | c.1493C>T (p.Pro498Leu) c.1391C>T (p.Pro464Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50914726G>C | CA389687025 | PYGL | c.1493C>G (p.Pro498Arg) c.1391C>G (p.Pro464Arg) | |
| 14 | g.50914726G= | CA2136418874 | PYGL | c.1493C= (p.Pro498=) c.1391C= (p.Pro464=) | |
| 14 | g.50914726G>T | CA389687026 | PYGL | c.1493C>A (p.Pro498Gln) c.1391C>A (p.Pro464Gln) | |
| 14 | g.50914727G>A | CA389687028 | PYGL | c.1492C>T (p.Pro498Ser) c.1390C>T (p.Pro464Ser) | gnomAD v4 |
| 14 | g.50914727G>C | CA389687030 | PYGL | c.1492C>G (p.Pro498Ala) c.1390C>G (p.Pro464Ala) | |
| 14 | g.50914727G>T | CA389687032 | PYGL | c.1492C>A (p.Pro498Thr) c.1390C>A (p.Pro464Thr) | |
| 14 | g.50914728G>A | CA486381885 | PYGL | c.1491C>T (p.Asn497=) c.1389C>T (p.Asn463=) | |
| 14 | g.50914728G>C | CA389687033 | PYGL | c.1491C>G (p.Asn497Lys) c.1389C>G (p.Asn463Lys) | |
| 14 | g.50914728G>T | CA389687034 | PYGL | c.1491C>A (p.Asn497Lys) c.1389C>A (p.Asn463Lys) | |
| 14 | g.50914729T>A | CA389687035 | PYGL | c.1490A>T (p.Asn497Ile) c.1388A>T (p.Asn463Ile) | |
| 14 | g.50914729T>C | CA389687037 | PYGL | c.1490A>G (p.Asn497Ser) c.1388A>G (p.Asn463Ser) | |
| 14 | g.50914729T>G | CA389687039 | PYGL | c.1490A>C (p.Asn497Thr) c.1388A>C (p.Asn463Thr) | |
| 14 | g.50914730T>A | CA389687041 | PYGL | c.1489A>T (p.Asn497Tyr) c.1387A>T (p.Asn463Tyr) | |
| 14 | g.50914730T>C | CA389687042 | PYGL | c.1489A>G (p.Asn497Asp) c.1387A>G (p.Asn463Asp) | |
| 14 | g.50914730T>G | CA389687044 | PYGL | c.1489A>C (p.Asn497His) c.1387A>C (p.Asn463His) | |
| 14 | g.50914731G>A | CA486381888 | PYGL | c.1488C>T (p.Cys496=) c.1386C>T (p.Cys462=) | gnomAD v4 |
| 14 | g.50914731G>C | CA389687046 | PYGL | c.1488C>G (p.Cys496Trp) c.1386C>G (p.Cys462Trp) | |
| 14 | g.50914731G>T | CA389687048 | PYGL | c.1488C>A (p.Cys496Ter) c.1386C>A (p.Cys462Ter) | gnomAD v4 |
| 14 | g.50914732C>A | CA389687050 | PYGL | c.1487G>T (p.Cys496Phe) c.1385G>T (p.Cys462Phe) | |
| 14 | g.50914732C>G | CA389687053 | PYGL | c.1487G>C (p.Cys496Ser) c.1385G>C (p.Cys462Ser) | |
| 14 | g.50914732C>T | CA389687052 | PYGL | c.1487G>A (p.Cys496Tyr) c.1385G>A (p.Cys462Tyr) | gnomAD v4 |
| 14 | g.50914733A>C | CA389687054 | PYGL | c.1486T>G (p.Cys496Gly) c.1384T>G (p.Cys462Gly) | |
| 14 | g.50914733A>G | CA389687056 | PYGL | c.1486T>C (p.Cys496Arg) c.1384T>C (p.Cys462Arg) | |
| 14 | g.50914733A>T | CA389687058 | PYGL | c.1486T>A (p.Cys496Ser) c.1384T>A (p.Cys462Ser) | |
| 14 | g.50914734G>A | CA486381892 | PYGL | c.1485C>T (p.Leu495=) c.1383C>T (p.Leu461=) | gnomAD v4 |
| 14 | g.50914734G>C | CA486381893 | PYGL | c.1485C>G (p.Leu495=) c.1383C>G (p.Leu461=) | |
| 14 | g.50914734G>T | CA486381894 | PYGL | c.1485C>A (p.Leu495=) c.1383C>A (p.Leu461=) | |
| 14 | g.50914735A>C | CA389687060 | PYGL | c.1484T>G (p.Leu495Arg) c.1382T>G (p.Leu461Arg) | |
| 14 | g.50914735A>G | CA389687062 | PYGL | c.1484T>C (p.Leu495Pro) c.1382T>C (p.Leu461Pro) | |
| 14 | g.50914735A>T | CA389687063 | PYGL | c.1484T>A (p.Leu495His) c.1382T>A (p.Leu461His) | |
| 14 | g.50914736G>A | CA7183455 | PYGL | c.1483C>T (p.Leu495Phe) c.1381C>T (p.Leu461Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50914736G>C | CA389687065 | PYGL | c.1483C>G (p.Leu495Val) c.1381C>G (p.Leu461Val) | gnomAD v4 |
| 14 | g.50914736G= | CA2136418875 | PYGL | c.1483C= (p.Leu495=) c.1381C= (p.Leu461=) | |
| 14 | g.50914736G>T | CA389687067 | PYGL | c.1483C>A (p.Leu495Ile) c.1381C>A (p.Leu461Ile) | |
| 14 | g.50914737T>A | CA486381896 | PYGL | c.1482A>T (p.Leu494=) c.1380A>T (p.Leu460=) | |
| 14 | g.50914737T>C | CA486381897 | PYGL | c.1482A>G (p.Leu494=) c.1380A>G (p.Leu460=) | |
| 14 | g.50914737T>G | CA486381898 | PYGL | c.1482A>C (p.Leu494=) c.1380A>C (p.Leu460=) | |
| 14 | g.50914738A>C | CA389687069 | PYGL | c.1481T>G (p.Leu494Arg) c.1379T>G (p.Leu460Arg) | |
| 14 | g.50914738A>G | CA389687071 | PYGL | c.1481T>C (p.Leu494Pro) c.1379T>C (p.Leu460Pro) | |
| 14 | g.50914738A>T | CA389687073 | PYGL | c.1481T>A (p.Leu494Gln) c.1379T>A (p.Leu460Gln) | |
| 14 | g.50914739G>A | CA486381899 | PYGL | c.1480C>T (p.Leu494=) c.1378C>T (p.Leu460=) | |
| 14 | g.50914739G>C | CA389687074 | PYGL | c.1480C>G (p.Leu494Val) c.1378C>G (p.Leu460Val) | |
| 14 | g.50914739G>T | CA389687075 | PYGL | c.1480C>A (p.Leu494Ile) c.1378C>A (p.Leu460Ile) | |
| 14 | g.50914740G>A | CA486381903 | PYGL | c.1479C>T (p.Leu493=) c.1377C>T (p.Leu459=) | |
| 14 | g.50914740G>C | CA486381904 | PYGL | c.1479C>G (p.Leu493=) c.1377C>G (p.Leu459=) | dbSNP |
| 14 | g.50914740G= | CA2136418876 | PYGL | c.1479C= (p.Leu493=) c.1377C= (p.Leu459=) | |
| 14 | g.50914740G>T | CA486381905 | PYGL | c.1479C>A (p.Leu493=) c.1377C>A (p.Leu459=) | |
| 14 | g.50914741A>C | CA389687081 | PYGL | c.1478T>G (p.Leu493Arg) c.1376T>G (p.Leu459Arg) | |
| 14 | g.50914741A>G | CA389687077 | PYGL | c.1478T>C (p.Leu493Pro) c.1376T>C (p.Leu459Pro) | |
| 14 | g.50914741A>T | CA389687079 | PYGL | c.1478T>A (p.Leu493His) c.1376T>A (p.Leu459His) | |
| 14 | g.50914742G>A | CA389687083 | PYGL | c.1477C>T (p.Leu493Phe) c.1375C>T (p.Leu459Phe) | |
| 14 | g.50914742G>C | CA389687085 | PYGL | c.1477C>G (p.Leu493Val) c.1375C>G (p.Leu459Val) | |
| 14 | g.50914742G>T | CA389687086 | PYGL | c.1477C>A (p.Leu493Ile) c.1375C>A (p.Leu459Ile) | |
| 14 | g.50914743C>A | CA389687088 | PYGL | c.1476G>T (p.Trp492Cys) c.1374G>T (p.Trp458Cys) | gnomAD v4 |
| 14 | g.50914743C>G | CA389687090 | PYGL | c.1476G>C (p.Trp492Cys) c.1374G>C (p.Trp458Cys) | |
| 14 | g.50914743C>T | CA501099 | PYGL | c.1476G>A (p.Trp492Ter) c.1374G>A (p.Trp458Ter) | COSMIC |
| 14 | g.50914744C>A | CA389687092 | PYGL | c.1475G>T (p.Trp492Leu) c.1373G>T (p.Trp458Leu) | |
| 14 | g.50914744C= | CA2136418877 | PYGL | c.1475G= (p.Trp492=) c.1373G= (p.Trp458=) | |
| 14 | g.50914744C>G | CA389687093 | PYGL | c.1475G>C (p.Trp492Ser) c.1373G>C (p.Trp458Ser) | |
| 14 | g.50914744C>T | CA260826175 | PYGL | c.1475G>A (p.Trp492Ter) c.1373G>A (p.Trp458Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914745A>C | CA389687099 | PYGL | c.1474T>G (p.Trp492Gly) c.1372T>G (p.Trp458Gly) | |
| 14 | g.50914745A>G | CA389687100 | PYGL | c.1474T>C (p.Trp492Arg) c.1372T>C (p.Trp458Arg) | |
| 14 | g.50914745A>T | CA389687101 | PYGL | c.1474T>A (p.Trp492Arg) c.1372T>A (p.Trp458Arg) | |
| 14 | g.50914746G>A | CA486381907 | PYGL | c.1473C>T (p.Arg491=) c.1371C>T (p.Arg457=) | gnomAD v4 |
| 14 | g.50914746G>C | CA486381909 | PYGL | c.1473C>G (p.Arg491=) c.1371C>G (p.Arg457=) | |
| 14 | g.50914746G>T | CA486381911 | PYGL | c.1473C>A (p.Arg491=) c.1371C>A (p.Arg457=) | |
| 14 | g.50914747C>A | CA389687103 | PYGL | c.1472G>T (p.Arg491Leu) c.1370G>T (p.Arg457Leu) | |
| 14 | g.50914747C= | CA2136418878 | PYGL | c.1472G= (p.Arg491=) c.1370G= (p.Arg457=) | |
| 14 | g.50914747C>G | CA389687104 | PYGL | c.1472G>C (p.Arg491Pro) c.1370G>C (p.Arg457Pro) | |
| 14 | g.50914747C>T | CA7183456 | PYGL | c.1472G>A (p.Arg491His) c.1370G>A (p.Arg457His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914748G>A | CA341908 | PYGL | c.1471C>T (p.Arg491Cys) c.1369C>T (p.Arg457Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914748G>C | CA389687106 | PYGL | c.1471C>G (p.Arg491Gly) c.1369C>G (p.Arg457Gly) | |
| 14 | g.50914748G= | CA2136418879 | PYGL | c.1471C= (p.Arg491=) c.1369C= (p.Arg457=) | |
| 14 | g.50914748G>T | CA389687108 | PYGL | c.1471C>A (p.Arg491Ser) c.1369C>A (p.Arg457Ser) | |
| 14 | g.50914749C>A | CA389687109 | PYGL | c.1470G>T (p.Arg490Ser) c.1368G>T (p.Arg456Ser) | |
| 14 | g.50914749C>G | CA389687110 | PYGL | c.1470G>C (p.Arg490Ser) c.1368G>C (p.Arg456Ser) | |
| 14 | g.50914749C>T | CA486381913 | PYGL | c.1470G>A (p.Arg490=) c.1368G>A (p.Arg456=) | gnomAD v4 |
| 14 | g.50914750C>A | CA389687111 | PYGL | c.1469G>T (p.Arg490Met) c.1367G>T (p.Arg456Met) | |
| 14 | g.50914750C>G | CA389687112 | PYGL | c.1469G>C (p.Arg490Thr) c.1367G>C (p.Arg456Thr) | |
| 14 | g.50914750C>T | CA389687114 | PYGL | c.1469G>A (p.Arg490Lys) c.1367G>A (p.Arg456Lys) | |
| 14 | g.50914751T>A | CA389687115 | PYGL | c.1468A>T (p.Arg490Trp) c.1366A>T (p.Arg456Trp) | |
| 14 | g.50914751T>C | CA389687117 | PYGL | c.1468A>G (p.Arg490Gly) c.1366A>G (p.Arg456Gly) | |
| 14 | g.50914751T>G | CA486381914 | PYGL | c.1468A>C (p.Arg490=) c.1366A>C (p.Arg456=) | |
| 14 | g.50914752T>A | CA486381916 | PYGL | c.1467A>T (p.Pro489=) c.1365A>T (p.Pro455=) | |
| 14 | g.50914752T>C | CA486381917 | PYGL | c.1467A>G (p.Pro489=) c.1365A>G (p.Pro455=) | |
| 14 | g.50914752T>G | CA486381918 | PYGL | c.1467A>C (p.Pro489=) c.1365A>C (p.Pro455=) | |
| 14 | g.50914753G>A | CA389687119 | PYGL | c.1466C>T (p.Pro489Leu) c.1364C>T (p.Pro455Leu) | |
| 14 | g.50914753G>C | CA389687121 | PYGL | c.1466C>G (p.Pro489Arg) c.1364C>G (p.Pro455Arg) | |
| 14 | g.50914753G>T | CA389687122 | PYGL | c.1466C>A (p.Pro489Gln) c.1364C>A (p.Pro455Gln) | gnomAD v4 |
| 14 | g.50914754G>A | CA389687124 | PYGL | c.1465C>T (p.Pro489Ser) c.1363C>T (p.Pro455Ser) | dbSNP gnomAD v4 |
| 14 | g.50914754G>C | CA389687127 | PYGL | c.1465C>G (p.Pro489Ala) c.1363C>G (p.Pro455Ala) | |
| 14 | g.50914754G= | CA2136418880 | PYGL | c.1465C= (p.Pro489=) c.1363C= (p.Pro455=) | |
| 14 | g.50914754G>T | CA389687125 | PYGL | c.1465C>A (p.Pro489Thr) c.1363C>A (p.Pro455Thr) | |
| 14 | g.50914755A>C | CA486381920 | PYGL | c.1464T>G (p.Thr488=) c.1362T>G (p.Thr454=) | |
| 14 | g.50914755A>G | CA486381923 | PYGL | c.1464T>C (p.Thr488=) c.1362T>C (p.Thr454=) | gnomAD v4 |
| 14 | g.50914755A>T | CA486381921 | PYGL | c.1464T>A (p.Thr488=) c.1362T>A (p.Thr454=) | |
| 14 | g.50914756G>A | CA389687129 | PYGL | c.1463C>T (p.Thr488Ile) c.1361C>T (p.Thr454Ile) | gnomAD v4 |
| 14 | g.50914756G>C | CA260826186 | PYGL | c.1463C>G (p.Thr488Ser) c.1361C>G (p.Thr454Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914756G= | CA2136418881 | PYGL | c.1463C= (p.Thr488=) c.1361C= (p.Thr454=) | |
| 14 | g.50914756G>T | CA389687131 | PYGL | c.1463C>A (p.Thr488Asn) c.1361C>A (p.Thr454Asn) | |
| 14 | g.50914757T>A | CA389687133 | PYGL | c.1462A>T (p.Thr488Ser) c.1360A>T (p.Thr454Ser) | gnomAD v4 |
| 14 | g.50914757T>C | CA389687135 | PYGL | c.1462A>G (p.Thr488Ala) c.1360A>G (p.Thr454Ala) | |
| 14 | g.50914757T>G | CA389687136 | PYGL | c.1462A>C (p.Thr488Pro) c.1360A>C (p.Thr454Pro) | |
| 14 | g.50914758G>A | CA486381924 | PYGL | c.1461C>T (p.Ile487=) c.1359C>T (p.Ile453=) | gnomAD v4 |
| 14 | g.50914758G>C | CA389687137 | PYGL | c.1461C>G (p.Ile487Met) c.1359C>G (p.Ile453Met) | |
| 14 | g.50914758G>T | CA486381927 | PYGL | c.1461C>A (p.Ile487=) c.1359C>A (p.Ile453=) | |
| 14 | g.50914759A>C | CA389687139 | PYGL | c.1460T>G (p.Ile487Ser) c.1358T>G (p.Ile453Ser) | |
| 14 | g.50914759A>G | CA389687141 | PYGL | c.1460T>C (p.Ile487Thr) c.1358T>C (p.Ile453Thr) | |
| 14 | g.50914759A>T | CA389687142 | PYGL | c.1460T>A (p.Ile487Asn) c.1358T>A (p.Ile453Asn) | |
| 14 | g.50914760T>A | CA389687147 | PYGL | c.1459A>T (p.Ile487Phe) c.1357A>T (p.Ile453Phe) | dbSNP gnomAD v4 |
| 14 | g.50914760T>C | CA389687146 | PYGL | c.1459A>G (p.Ile487Val) c.1357A>G (p.Ile453Val) | |
| 14 | g.50914760T>G | CA389687144 | PYGL | c.1459A>C (p.Ile487Leu) c.1357A>C (p.Ile453Leu) | |
| 14 | g.50914760T= | CA2136418882 | PYGL | c.1459A= (p.Ile487=) c.1357A= (p.Ile453=) | |
| 14 | g.50914761C>A | CA7183457 | PYGL | c.1458G>T (p.Gly486=) c.1356G>T (p.Gly452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914761C= | CA2136418883 | PYGL | c.1458G= (p.Gly486=) c.1356G= (p.Gly452=) | |
| 14 | g.50914761C>G | CA486381930 | PYGL | c.1458G>C (p.Gly486=) c.1356G>C (p.Gly452=) | |
| 14 | g.50914761C>T | CA486381929 | PYGL | c.1458G>A (p.Gly486=) c.1356G>A (p.Gly452=) | dbSNP |
| 14 | g.50914762C>A | CA389687152 | PYGL | c.1457G>T (p.Gly486Val) c.1355G>T (p.Gly452Val) | |
| 14 | g.50914762C>G | CA389687148 | PYGL | c.1457G>C (p.Gly486Ala) c.1355G>C (p.Gly452Ala) | |
| 14 | g.50914762C>T | CA389687150 | PYGL | c.1457G>A (p.Gly486Glu) c.1355G>A (p.Gly452Glu) | |
| 14 | g.50914763C>A | CA389687153 | PYGL | c.1456G>T (p.Gly486Trp) c.1354G>T (p.Gly452Trp) | |
| 14 | g.50914763C>G | CA389687154 | PYGL | c.1456G>C (p.Gly486Arg) c.1354G>C (p.Gly452Arg) | |
| 14 | g.50914763C>T | CA389687156 | PYGL | c.1456G>A (p.Gly486Arg) c.1354G>A (p.Gly452Arg) | |
| 14 | g.50914764A>C | CA389687157 | PYGL | c.1455T>G (p.Asn485Lys) c.1353T>G (p.Asn451Lys) | |
| 14 | g.50914764A>G | CA486381934 | PYGL | c.1455T>C (p.Asn485=) c.1353T>C (p.Asn451=) | |
| 14 | g.50914764A>T | CA389687158 | PYGL | c.1455T>A (p.Asn485Lys) c.1353T>A (p.Asn451Lys) | |
| 14 | g.50914765T>A | CA389687160 | PYGL | c.1454A>T (p.Asn485Ile) c.1352A>T (p.Asn451Ile) | |
| 14 | g.50914765T>C | CA7183458 | PYGL | c.1454A>G (p.Asn485Ser) c.1352A>G (p.Asn451Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50914765T>G | CA389687162 | PYGL | c.1454A>C (p.Asn485Thr) c.1352A>C (p.Asn451Thr) | |
| 14 | g.50914765T= | CA2136418884 | PYGL | c.1454A= (p.Asn485=) c.1352A= (p.Asn451=) |