| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235759271C>A | CA424025036 | LYST | c.1257G>T (p.Val419=) c.*2006G>T (n.*2006G>T) c.291G>T (p.Val97=) c.1014G>T (p.Val338=) c.6582G>T (p.Val2194=) n.6973G>T c.6444G>T (p.Val2148=) c.4245G>T (p.Val1415=) n.6764G>T | |
| 1 | g.235759271C>G | CA424025038 | LYST | c.1257G>C (p.Val419=) c.*2006G>C (n.*2006G>C) c.291G>C (p.Val97=) c.1014G>C (p.Val338=) c.6582G>C (p.Val2194=) n.6973G>C c.6444G>C (p.Val2148=) c.4245G>C (p.Val1415=) n.6764G>C | |
| 1 | g.235759271C>T | CA424025037 | LYST | c.1257G>A (p.Val419=) c.*2006G>A (n.*2006G>A) c.291G>A (p.Val97=) c.1014G>A (p.Val338=) c.6582G>A (p.Val2194=) n.6973G>A c.6444G>A (p.Val2148=) c.4245G>A (p.Val1415=) n.6764G>A | |
| 1 | g.235759272A>C | CA344940700 | LYST | c.1256T>G (p.Val419Gly) c.*2005T>G (n.*2005T>G) c.290T>G (p.Val97Gly) c.1013T>G (p.Val338Gly) c.6581T>G (p.Val2194Gly) n.6972T>G c.6443T>G (p.Val2148Gly) c.4244T>G (p.Val1415Gly) n.6763T>G | |
| 1 | g.235759272A>G | CA344940702 | LYST | c.1256T>C (p.Val419Ala) c.*2005T>C (n.*2005T>C) c.290T>C (p.Val97Ala) c.1013T>C (p.Val338Ala) c.6581T>C (p.Val2194Ala) n.6972T>C c.6443T>C (p.Val2148Ala) c.4244T>C (p.Val1415Ala) n.6763T>C | |
| 1 | g.235759272A>T | CA344940711 | LYST | c.1256T>A (p.Val419Glu) c.*2005T>A (n.*2005T>A) c.290T>A (p.Val97Glu) c.1013T>A (p.Val338Glu) c.6581T>A (p.Val2194Glu) n.6972T>A c.6443T>A (p.Val2148Glu) c.4244T>A (p.Val1415Glu) n.6763T>A | |
| 1 | g.235759273C>A | CA344940730 | LYST | c.1255G>T (p.Val419Leu) c.*2004G>T (n.*2004G>T) c.289G>T (p.Val97Leu) c.1012G>T (p.Val338Leu) c.6580G>T (p.Val2194Leu) n.6971G>T c.6442G>T (p.Val2148Leu) c.4243G>T (p.Val1415Leu) n.6762G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759273C= | CA2486632332 | LYST | c.1255G= (p.Val419=) c.*2004G= (n.*2004G=) c.289G= (p.Val97=) c.1012G= (p.Val338=) c.6580G= (p.Val2194=) n.6971G= c.6442G= (p.Val2148=) c.4243G= (p.Val1415=) n.6762G= | |
| 1 | g.235759273C>G | CA344940716 | LYST | c.1255G>C (p.Val419Leu) c.*2004G>C (n.*2004G>C) c.289G>C (p.Val97Leu) c.1012G>C (p.Val338Leu) c.6580G>C (p.Val2194Leu) n.6971G>C c.6442G>C (p.Val2148Leu) c.4243G>C (p.Val1415Leu) n.6762G>C | |
| 1 | g.235759273C>T | CA344940723 | LYST | c.1255G>A (p.Val419Met) c.*2004G>A (n.*2004G>A) c.289G>A (p.Val97Met) c.1012G>A (p.Val338Met) c.6580G>A (p.Val2194Met) n.6971G>A c.6442G>A (p.Val2148Met) c.4243G>A (p.Val1415Met) n.6762G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759274T>A | CA424025043 | LYST | c.1254A>T (p.Gly418=) c.*2003A>T (n.*2003A>T) c.288A>T (p.Gly96=) c.1011A>T (p.Gly337=) c.6579A>T (p.Gly2193=) n.6970A>T c.6441A>T (p.Gly2147=) c.4242A>T (p.Gly1414=) n.6761A>T | |
| 1 | g.235759274T>C | CA424025045 | LYST | c.1254A>G (p.Gly418=) c.*2003A>G (n.*2003A>G) c.288A>G (p.Gly96=) c.1011A>G (p.Gly337=) c.6579A>G (p.Gly2193=) n.6970A>G c.6441A>G (p.Gly2147=) c.4242A>G (p.Gly1414=) n.6761A>G | |
| 1 | g.235759274T>G | CA424025047 | LYST | c.1254A>C (p.Gly418=) c.*2003A>C (n.*2003A>C) c.288A>C (p.Gly96=) c.1011A>C (p.Gly337=) c.6579A>C (p.Gly2193=) n.6970A>C c.6441A>C (p.Gly2147=) c.4242A>C (p.Gly1414=) n.6761A>C | |
| 1 | g.235759275C>A | CA344940734 | LYST | c.1253G>T (p.Gly418Val) c.*2002G>T (n.*2002G>T) c.287G>T (p.Gly96Val) c.1010G>T (p.Gly337Val) c.6578G>T (p.Gly2193Val) n.6969G>T c.6440G>T (p.Gly2147Val) c.4241G>T (p.Gly1414Val) n.6760G>T | gnomAD v4 |
| 1 | g.235759275C= | CA2486632333 | LYST | c.1253G= (p.Gly418=) c.*2002G= (n.*2002G=) c.287G= (p.Gly96=) c.1010G= (p.Gly337=) c.6578G= (p.Gly2193=) n.6969G= c.6440G= (p.Gly2147=) c.4241G= (p.Gly1414=) n.6760G= | |
| 1 | g.235759275C>G | CA344940739 | LYST | c.1253G>C (p.Gly418Ala) c.*2002G>C (n.*2002G>C) c.287G>C (p.Gly96Ala) c.1010G>C (p.Gly337Ala) c.6578G>C (p.Gly2193Ala) n.6969G>C c.6440G>C (p.Gly2147Ala) c.4241G>C (p.Gly1414Ala) n.6760G>C | |
| 1 | g.235759275C>T | CA39616186 | LYST | c.1253G>A (p.Gly418Glu) c.*2002G>A (n.*2002G>A) c.287G>A (p.Gly96Glu) c.1010G>A (p.Gly337Glu) c.6578G>A (p.Gly2193Glu) n.6969G>A c.6440G>A (p.Gly2147Glu) c.4241G>A (p.Gly1414Glu) n.6760G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235759276C>A | CA344940743 | LYST | c.1252G>T (p.Gly418Ter) c.*2001G>T (n.*2001G>T) c.286G>T (p.Gly96Ter) c.1009G>T (p.Gly337Ter) c.6577G>T (p.Gly2193Ter) n.6968G>T c.6439G>T (p.Gly2147Ter) c.4240G>T (p.Gly1414Ter) n.6759G>T | |
| 1 | g.235759276C= | CA2486632334 | LYST | c.1252G= (p.Gly418=) c.*2001G= (n.*2001G=) c.286G= (p.Gly96=) c.1009G= (p.Gly337=) c.6577G= (p.Gly2193=) n.6968G= c.6439G= (p.Gly2147=) c.4240G= (p.Gly1414=) n.6759G= | |
| 1 | g.235759276C>G | CA344940744 | LYST | c.1252G>C (p.Gly418Arg) c.*2001G>C (n.*2001G>C) c.286G>C (p.Gly96Arg) c.1009G>C (p.Gly337Arg) c.6577G>C (p.Gly2193Arg) n.6968G>C c.6439G>C (p.Gly2147Arg) c.4240G>C (p.Gly1414Arg) n.6759G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759276C>T | CA344940748 | LYST | c.1252G>A (p.Gly418Arg) c.*2001G>A (n.*2001G>A) c.286G>A (p.Gly96Arg) c.1009G>A (p.Gly337Arg) c.6577G>A (p.Gly2193Arg) n.6968G>A c.6439G>A (p.Gly2147Arg) c.4240G>A (p.Gly1414Arg) n.6759G>A | |
| 1 | g.235759277C>A | CA344940751 | LYST | c.1251G>T (p.Lys417Asn) c.*2000G>T (n.*2000G>T) c.285G>T (p.Lys95Asn) c.1008G>T (p.Lys336Asn) c.6576G>T (p.Lys2192Asn) n.6967G>T c.6438G>T (p.Lys2146Asn) c.4239G>T (p.Lys1413Asn) n.6758G>T | |
| 1 | g.235759277C>G | CA344940753 | LYST | c.1251G>C (p.Lys417Asn) c.*2000G>C (n.*2000G>C) c.285G>C (p.Lys95Asn) c.1008G>C (p.Lys336Asn) c.6576G>C (p.Lys2192Asn) n.6967G>C c.6438G>C (p.Lys2146Asn) c.4239G>C (p.Lys1413Asn) n.6758G>C | |
| 1 | g.235759277C>T | CA424025074 | LYST | c.1251G>A (p.Lys417=) c.*2000G>A (n.*2000G>A) c.285G>A (p.Lys95=) c.1008G>A (p.Lys336=) c.6576G>A (p.Lys2192=) n.6967G>A c.6438G>A (p.Lys2146=) c.4239G>A (p.Lys1413=) n.6758G>A | |
| 1 | g.235759278T>A | CA344940755 | LYST | c.1250A>T (p.Lys417Met) c.*1999A>T (n.*1999A>T) c.284A>T (p.Lys95Met) c.1007A>T (p.Lys336Met) c.6575A>T (p.Lys2192Met) n.6966A>T c.6437A>T (p.Lys2146Met) c.4238A>T (p.Lys1413Met) n.6757A>T | |
| 1 | g.235759278T>C | CA344940757 | LYST | c.1250A>G (p.Lys417Arg) c.*1999A>G (n.*1999A>G) c.284A>G (p.Lys95Arg) c.1007A>G (p.Lys336Arg) c.6575A>G (p.Lys2192Arg) n.6966A>G c.6437A>G (p.Lys2146Arg) c.4238A>G (p.Lys1413Arg) n.6757A>G | |
| 1 | g.235759278T>G | CA344940759 | LYST | c.1250A>C (p.Lys417Thr) c.*1999A>C (n.*1999A>C) c.284A>C (p.Lys95Thr) c.1007A>C (p.Lys336Thr) c.6575A>C (p.Lys2192Thr) n.6966A>C c.6437A>C (p.Lys2146Thr) c.4238A>C (p.Lys1413Thr) n.6757A>C | |
| 1 | g.235759279T>A | CA344940767 | LYST | c.1249A>T (p.Lys417Ter) c.*1998A>T (n.*1998A>T) c.283A>T (p.Lys95Ter) c.1006A>T (p.Lys336Ter) c.6574A>T (p.Lys2192Ter) n.6965A>T c.6436A>T (p.Lys2146Ter) c.4237A>T (p.Lys1413Ter) n.6756A>T | |
| 1 | g.235759279T>C | CA1466348 | LYST | c.1249A>G (p.Lys417Glu) c.*1998A>G (n.*1998A>G) c.283A>G (p.Lys95Glu) c.1006A>G (p.Lys336Glu) c.6574A>G (p.Lys2192Glu) n.6965A>G c.6436A>G (p.Lys2146Glu) c.4237A>G (p.Lys1413Glu) n.6756A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759279T>G | CA344940763 | LYST | c.1249A>C (p.Lys417Gln) c.*1998A>C (n.*1998A>C) c.283A>C (p.Lys95Gln) c.1006A>C (p.Lys336Gln) c.6574A>C (p.Lys2192Gln) n.6965A>C c.6436A>C (p.Lys2146Gln) c.4237A>C (p.Lys1413Gln) n.6756A>C | |
| 1 | g.235759279T= | CA2486632335 | LYST | c.1249A= (p.Lys417=) c.*1998A= (n.*1998A=) c.283A= (p.Lys95=) c.1006A= (p.Lys336=) c.6574A= (p.Lys2192=) n.6965A= c.6436A= (p.Lys2146=) c.4237A= (p.Lys1413=) n.6756A= | |
| 1 | g.235759280T>A | CA424025084 | LYST | c.1248A>T (p.Pro416=) c.*1997A>T (n.*1997A>T) c.282A>T (p.Pro94=) c.1005A>T (p.Pro335=) c.6573A>T (p.Pro2191=) n.6964A>T c.6435A>T (p.Pro2145=) c.4236A>T (p.Pro1412=) n.6755A>T | |
| 1 | g.235759280T>C | CA424025086 | LYST | c.1248A>G (p.Pro416=) c.*1997A>G (n.*1997A>G) c.282A>G (p.Pro94=) c.1005A>G (p.Pro335=) c.6573A>G (p.Pro2191=) n.6964A>G c.6435A>G (p.Pro2145=) c.4236A>G (p.Pro1412=) n.6755A>G | dbSNP |
| 1 | g.235759280T>G | CA424025090 | LYST | c.1248A>C (p.Pro416=) c.*1997A>C (n.*1997A>C) c.282A>C (p.Pro94=) c.1005A>C (p.Pro335=) c.6573A>C (p.Pro2191=) n.6964A>C c.6435A>C (p.Pro2145=) c.4236A>C (p.Pro1412=) n.6755A>C | |
| 1 | g.235759280T= | CA2486632336 | LYST | c.1248A= (p.Pro416=) c.*1997A= (n.*1997A=) c.282A= (p.Pro94=) c.1005A= (p.Pro335=) c.6573A= (p.Pro2191=) n.6964A= c.6435A= (p.Pro2145=) c.4236A= (p.Pro1412=) n.6755A= | |
| 1 | g.235759281G>A | CA344940783 | LYST | c.1247C>T (p.Pro416Leu) c.*1996C>T (n.*1996C>T) c.281C>T (p.Pro94Leu) c.1004C>T (p.Pro335Leu) c.6572C>T (p.Pro2191Leu) n.6963C>T c.6434C>T (p.Pro2145Leu) c.4235C>T (p.Pro1412Leu) n.6754C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759281G>C | CA344940790 | LYST | c.1247C>G (p.Pro416Arg) c.*1996C>G (n.*1996C>G) c.281C>G (p.Pro94Arg) c.1004C>G (p.Pro335Arg) c.6572C>G (p.Pro2191Arg) n.6963C>G c.6434C>G (p.Pro2145Arg) c.4235C>G (p.Pro1412Arg) n.6754C>G | |
| 1 | g.235759281G= | CA2486632337 | LYST | c.1247C= (p.Pro416=) c.*1996C= (n.*1996C=) c.281C= (p.Pro94=) c.1004C= (p.Pro335=) c.6572C= (p.Pro2191=) n.6963C= c.6434C= (p.Pro2145=) c.4235C= (p.Pro1412=) n.6754C= | |
| 1 | g.235759281G>T | CA344940797 | LYST | c.1247C>A (p.Pro416Gln) c.*1996C>A (n.*1996C>A) c.281C>A (p.Pro94Gln) c.1004C>A (p.Pro335Gln) c.6572C>A (p.Pro2191Gln) n.6963C>A c.6434C>A (p.Pro2145Gln) c.4235C>A (p.Pro1412Gln) n.6754C>A | |
| 1 | g.235759282G>A | CA344940800 | LYST | c.1246C>T (p.Pro416Ser) c.*1995C>T (n.*1995C>T) c.280C>T (p.Pro94Ser) c.1003C>T (p.Pro335Ser) c.6571C>T (p.Pro2191Ser) n.6962C>T c.6433C>T (p.Pro2145Ser) c.4234C>T (p.Pro1412Ser) n.6753C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759282G>C | CA344940803 | LYST | c.1246C>G (p.Pro416Ala) c.*1995C>G (n.*1995C>G) c.280C>G (p.Pro94Ala) c.1003C>G (p.Pro335Ala) c.6571C>G (p.Pro2191Ala) n.6962C>G c.6433C>G (p.Pro2145Ala) c.4234C>G (p.Pro1412Ala) n.6753C>G | |
| 1 | g.235759282G= | CA2486632338 | LYST | c.1246C= (p.Pro416=) c.*1995C= (n.*1995C=) c.280C= (p.Pro94=) c.1003C= (p.Pro335=) c.6571C= (p.Pro2191=) n.6962C= c.6433C= (p.Pro2145=) c.4234C= (p.Pro1412=) n.6753C= | |
| 1 | g.235759282G>T | CA344940811 | LYST | c.1246C>A (p.Pro416Thr) c.*1995C>A (n.*1995C>A) c.280C>A (p.Pro94Thr) c.1003C>A (p.Pro335Thr) c.6571C>A (p.Pro2191Thr) n.6962C>A c.6433C>A (p.Pro2145Thr) c.4234C>A (p.Pro1412Thr) n.6753C>A | |
| 1 | g.235759283G>A | CA424025102 | LYST | c.1245C>T (p.Val415=) c.*1994C>T (n.*1994C>T) c.279C>T (p.Val93=) c.1002C>T (p.Val334=) c.6570C>T (p.Val2190=) n.6961C>T c.6432C>T (p.Val2144=) c.4233C>T (p.Val1411=) n.6752C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759283G>C | CA424025106 | LYST | c.1245C>G (p.Val415=) c.*1994C>G (n.*1994C>G) c.279C>G (p.Val93=) c.1002C>G (p.Val334=) c.6570C>G (p.Val2190=) n.6961C>G c.6432C>G (p.Val2144=) c.4233C>G (p.Val1411=) n.6752C>G | |
| 1 | g.235759283G= | CA2486632339 | LYST | c.1245C= (p.Val415=) c.*1994C= (n.*1994C=) c.279C= (p.Val93=) c.1002C= (p.Val334=) c.6570C= (p.Val2190=) n.6961C= c.6432C= (p.Val2144=) c.4233C= (p.Val1411=) n.6752C= | |
| 1 | g.235759283G>T | CA424025104 | LYST | c.1245C>A (p.Val415=) c.*1994C>A (n.*1994C>A) c.279C>A (p.Val93=) c.1002C>A (p.Val334=) c.6570C>A (p.Val2190=) n.6961C>A c.6432C>A (p.Val2144=) c.4233C>A (p.Val1411=) n.6752C>A | |
| 1 | g.235759284A= | CA2486632340 | LYST | c.1244T= (p.Val415=) c.*1993T= (n.*1993T=) c.278T= (p.Val93=) c.1001T= (p.Val334=) c.6569T= (p.Val2190=) n.6960T= c.6431T= (p.Val2144=) c.4232T= (p.Val1411=) n.6751T= | |
| 1 | g.235759284A>C | CA344940849 | LYST | c.1244T>G (p.Val415Gly) c.*1993T>G (n.*1993T>G) c.278T>G (p.Val93Gly) c.1001T>G (p.Val334Gly) c.6569T>G (p.Val2190Gly) n.6960T>G c.6431T>G (p.Val2144Gly) c.4232T>G (p.Val1411Gly) n.6751T>G | ClinVar gnomAD v4 |
| 1 | g.235759284A>G | CA344940839 | LYST | c.1244T>C (p.Val415Ala) c.*1993T>C (n.*1993T>C) c.278T>C (p.Val93Ala) c.1001T>C (p.Val334Ala) c.6569T>C (p.Val2190Ala) n.6960T>C c.6431T>C (p.Val2144Ala) c.4232T>C (p.Val1411Ala) n.6751T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759284A>T | CA344940845 | LYST | c.1244T>A (p.Val415Asp) c.*1993T>A (n.*1993T>A) c.278T>A (p.Val93Asp) c.1001T>A (p.Val334Asp) c.6569T>A (p.Val2190Asp) n.6960T>A c.6431T>A (p.Val2144Asp) c.4232T>A (p.Val1411Asp) n.6751T>A | ClinVar |
| 1 | g.235759285C>A | CA344940857 | LYST | c.1243G>T (p.Val415Phe) c.*1992G>T (n.*1992G>T) c.277G>T (p.Val93Phe) c.1000G>T (p.Val334Phe) c.6568G>T (p.Val2190Phe) n.6959G>T c.6430G>T (p.Val2144Phe) c.4231G>T (p.Val1411Phe) n.6750G>T | |
| 1 | g.235759285C= | CA2486632341 | LYST | c.1243G= (p.Val415=) c.*1992G= (n.*1992G=) c.277G= (p.Val93=) c.1000G= (p.Val334=) c.6568G= (p.Val2190=) n.6959G= c.6430G= (p.Val2144=) c.4231G= (p.Val1411=) n.6750G= | |
| 1 | g.235759285C>G | CA344940863 | LYST | c.1243G>C (p.Val415Leu) c.*1992G>C (n.*1992G>C) c.277G>C (p.Val93Leu) c.1000G>C (p.Val334Leu) c.6568G>C (p.Val2190Leu) n.6959G>C c.6430G>C (p.Val2144Leu) c.4231G>C (p.Val1411Leu) n.6750G>C | |
| 1 | g.235759285C>T | CA344940870 | LYST | c.1243G>A (p.Val415Ile) c.*1992G>A (n.*1992G>A) c.277G>A (p.Val93Ile) c.1000G>A (p.Val334Ile) c.6568G>A (p.Val2190Ile) n.6959G>A c.6430G>A (p.Val2144Ile) c.4231G>A (p.Val1411Ile) n.6750G>A | dbSNP gnomAD v4 |
| 1 | g.235759286A>C | CA344940879 | LYST | c.1242T>G (p.Asp414Glu) c.*1991T>G (n.*1991T>G) c.276T>G (p.Asp92Glu) c.999T>G (p.Asp333Glu) c.6567T>G (p.Asp2189Glu) n.6958T>G c.6429T>G (p.Asp2143Glu) c.4230T>G (p.Asp1410Glu) n.6749T>G | ClinVar |
| 1 | g.235759286A>G | CA424025130 | LYST | c.1242T>C (p.Asp414=) c.*1991T>C (n.*1991T>C) c.276T>C (p.Asp92=) c.999T>C (p.Asp333=) c.6567T>C (p.Asp2189=) n.6958T>C c.6429T>C (p.Asp2143=) c.4230T>C (p.Asp1410=) n.6749T>C | |
| 1 | g.235759286A>T | CA344940881 | LYST | c.1242T>A (p.Asp414Glu) c.*1991T>A (n.*1991T>A) c.276T>A (p.Asp92Glu) c.999T>A (p.Asp333Glu) c.6567T>A (p.Asp2189Glu) n.6958T>A c.6429T>A (p.Asp2143Glu) c.4230T>A (p.Asp1410Glu) n.6749T>A | gnomAD v4 |
| 1 | g.235759287T>A | CA344940882 | LYST | c.1241A>T (p.Asp414Val) c.*1990A>T (n.*1990A>T) c.275A>T (p.Asp92Val) c.998A>T (p.Asp333Val) c.6566A>T (p.Asp2189Val) n.6957A>T c.6428A>T (p.Asp2143Val) c.4229A>T (p.Asp1410Val) n.6748A>T | |
| 1 | g.235759287T>C | CA344940887 | LYST | c.1241A>G (p.Asp414Gly) c.*1990A>G (n.*1990A>G) c.275A>G (p.Asp92Gly) c.998A>G (p.Asp333Gly) c.6566A>G (p.Asp2189Gly) n.6957A>G c.6428A>G (p.Asp2143Gly) c.4229A>G (p.Asp1410Gly) n.6748A>G | gnomAD v4 |
| 1 | g.235759287T>G | CA344940883 | LYST | c.1241A>C (p.Asp414Ala) c.*1990A>C (n.*1990A>C) c.275A>C (p.Asp92Ala) c.998A>C (p.Asp333Ala) c.6566A>C (p.Asp2189Ala) n.6957A>C c.6428A>C (p.Asp2143Ala) c.4229A>C (p.Asp1410Ala) n.6748A>C | |
| 1 | g.235759288C>A | CA344940901 | LYST | c.1240G>T (p.Asp414Tyr) c.*1989G>T (n.*1989G>T) c.274G>T (p.Asp92Tyr) c.997G>T (p.Asp333Tyr) c.6565G>T (p.Asp2189Tyr) n.6956G>T c.6427G>T (p.Asp2143Tyr) c.4228G>T (p.Asp1410Tyr) n.6747G>T | |
| 1 | g.235759288C= | CA2486632342 | LYST | c.1240G= (p.Asp414=) c.*1989G= (n.*1989G=) c.274G= (p.Asp92=) c.997G= (p.Asp333=) c.6565G= (p.Asp2189=) n.6956G= c.6427G= (p.Asp2143=) c.4228G= (p.Asp1410=) n.6747G= | |
| 1 | g.235759288C>G | CA344940905 | LYST | c.1240G>C (p.Asp414His) c.*1989G>C (n.*1989G>C) c.274G>C (p.Asp92His) c.997G>C (p.Asp333His) c.6565G>C (p.Asp2189His) n.6956G>C c.6427G>C (p.Asp2143His) c.4228G>C (p.Asp1410His) n.6747G>C | |
| 1 | g.235759288C>T | CA344940907 | LYST | c.1240G>A (p.Asp414Asn) c.*1989G>A (n.*1989G>A) c.274G>A (p.Asp92Asn) c.997G>A (p.Asp333Asn) c.6565G>A (p.Asp2189Asn) n.6956G>A c.6427G>A (p.Asp2143Asn) c.4228G>A (p.Asp1410Asn) n.6747G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759289A>C | CA344940908 | LYST | c.1239T>G (p.Ser413Arg) c.*1988T>G (n.*1988T>G) c.273T>G (p.Ser91Arg) c.996T>G (p.Ser332Arg) c.6564T>G (p.Ser2188Arg) n.6955T>G c.6426T>G (p.Ser2142Arg) c.4227T>G (p.Ser1409Arg) n.6746T>G | |
| 1 | g.235759289A>G | CA424025148 | LYST | c.1239T>C (p.Ser413=) c.*1988T>C (n.*1988T>C) c.273T>C (p.Ser91=) c.996T>C (p.Ser332=) c.6564T>C (p.Ser2188=) n.6955T>C c.6426T>C (p.Ser2142=) c.4227T>C (p.Ser1409=) n.6746T>C | |
| 1 | g.235759289A>T | CA344940909 | LYST | c.1239T>A (p.Ser413Arg) c.*1988T>A (n.*1988T>A) c.273T>A (p.Ser91Arg) c.996T>A (p.Ser332Arg) c.6564T>A (p.Ser2188Arg) n.6955T>A c.6426T>A (p.Ser2142Arg) c.4227T>A (p.Ser1409Arg) n.6746T>A | |
| 1 | g.235759290C>A | CA344940910 | LYST | c.1238G>T (p.Ser413Ile) c.*1987G>T (n.*1987G>T) c.272G>T (p.Ser91Ile) c.995G>T (p.Ser332Ile) c.6563G>T (p.Ser2188Ile) n.6954G>T c.6425G>T (p.Ser2142Ile) c.4226G>T (p.Ser1409Ile) n.6745G>T | |
| 1 | g.235759290C>G | CA344940911 | LYST | c.1238G>C (p.Ser413Thr) c.*1987G>C (n.*1987G>C) c.272G>C (p.Ser91Thr) c.995G>C (p.Ser332Thr) c.6563G>C (p.Ser2188Thr) n.6954G>C c.6425G>C (p.Ser2142Thr) c.4226G>C (p.Ser1409Thr) n.6745G>C | |
| 1 | g.235759290C>T | CA344940918 | LYST | c.1238G>A (p.Ser413Asn) c.*1987G>A (n.*1987G>A) c.272G>A (p.Ser91Asn) c.995G>A (p.Ser332Asn) c.6563G>A (p.Ser2188Asn) n.6954G>A c.6425G>A (p.Ser2142Asn) c.4226G>A (p.Ser1409Asn) n.6745G>A | |
| 1 | g.235759294_235759309del | CA2651136829 | LYST | c.1223_1238del (p.Ala408ValfsTer?) c.*1972_*1987del (n.*1972_*1987del) c.257_272del (p.Ala86ValfsTer?) c.980_995del (p.Ala327ValfsTer?) c.6548_6563del (p.Ala2183ValfsTer?) n.6939_6954del c.6410_6425del (p.Ala2137ValfsTer?) c.4211_4226del (p.Ala1404ValfsTer?) n.6730_6745del | gnomAD v4 |
| 1 | g.235759291T>A | CA344940925 | LYST | c.1237A>T (p.Ser413Cys) c.*1986A>T (n.*1986A>T) c.271A>T (p.Ser91Cys) c.994A>T (p.Ser332Cys) c.6562A>T (p.Ser2188Cys) n.6953A>T c.6424A>T (p.Ser2142Cys) c.4225A>T (p.Ser1409Cys) n.6744A>T | |
| 1 | g.235759291T>C | CA344940930 | LYST | c.1237A>G (p.Ser413Gly) c.*1986A>G (n.*1986A>G) c.271A>G (p.Ser91Gly) c.994A>G (p.Ser332Gly) c.6562A>G (p.Ser2188Gly) n.6953A>G c.6424A>G (p.Ser2142Gly) c.4225A>G (p.Ser1409Gly) n.6744A>G | ClinVar gnomAD v4 |
| 1 | g.235759291T>G | CA344940933 | LYST | c.1237A>C (p.Ser413Arg) c.*1986A>C (n.*1986A>C) c.271A>C (p.Ser91Arg) c.994A>C (p.Ser332Arg) c.6562A>C (p.Ser2188Arg) n.6953A>C c.6424A>C (p.Ser2142Arg) c.4225A>C (p.Ser1409Arg) n.6744A>C | |
| 1 | g.235759292G>A | CA424025159 | LYST | c.1236C>T (p.Val412=) c.*1985C>T (n.*1985C>T) c.270C>T (p.Val90=) c.993C>T (p.Val331=) c.6561C>T (p.Val2187=) n.6952C>T c.6423C>T (p.Val2141=) c.4224C>T (p.Val1408=) n.6743C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759292G>C | CA424025161 | LYST | c.1236C>G (p.Val412=) c.*1985C>G (n.*1985C>G) c.270C>G (p.Val90=) c.993C>G (p.Val331=) c.6561C>G (p.Val2187=) n.6952C>G c.6423C>G (p.Val2141=) c.4224C>G (p.Val1408=) n.6743C>G | |
| 1 | g.235759292G= | CA2486632343 | LYST | c.1236C= (p.Val412=) c.*1985C= (n.*1985C=) c.270C= (p.Val90=) c.993C= (p.Val331=) c.6561C= (p.Val2187=) n.6952C= c.6423C= (p.Val2141=) c.4224C= (p.Val1408=) n.6743C= | |
| 1 | g.235759292G>T | CA424025163 | LYST | c.1236C>A (p.Val412=) c.*1985C>A (n.*1985C>A) c.270C>A (p.Val90=) c.993C>A (p.Val331=) c.6561C>A (p.Val2187=) n.6952C>A c.6423C>A (p.Val2141=) c.4224C>A (p.Val1408=) n.6743C>A | |
| 1 | g.235759295_235759300del | CA923726343 | LYST | c.1231_1236del (p.Ser411_Val412del) c.*1980_*1985del (n.*1980_*1985del) c.265_270del (p.Ser89_Val90del) c.988_993del (p.Ser330_Val331del) c.6556_6561del (p.Ser2186_Val2187del) n.6947_6952del c.6418_6423del (p.Ser2140_Val2141del) c.4219_4224del (p.Ser1407_Val1408del) n.6738_6743del | |
| 1 | g.235759293A>C | CA344940949 | LYST | c.1235T>G (p.Val412Gly) c.*1984T>G (n.*1984T>G) c.269T>G (p.Val90Gly) c.992T>G (p.Val331Gly) c.6560T>G (p.Val2187Gly) n.6951T>G c.6422T>G (p.Val2141Gly) c.4223T>G (p.Val1408Gly) n.6742T>G | |
| 1 | g.235759293A>G | CA344940944 | LYST | c.1235T>C (p.Val412Ala) c.*1984T>C (n.*1984T>C) c.269T>C (p.Val90Ala) c.992T>C (p.Val331Ala) c.6560T>C (p.Val2187Ala) n.6951T>C c.6422T>C (p.Val2141Ala) c.4223T>C (p.Val1408Ala) n.6742T>C | |
| 1 | g.235759293A>T | CA344940941 | LYST | c.1235T>A (p.Val412Asp) c.*1984T>A (n.*1984T>A) c.269T>A (p.Val90Asp) c.992T>A (p.Val331Asp) c.6560T>A (p.Val2187Asp) n.6951T>A c.6422T>A (p.Val2141Asp) c.4223T>A (p.Val1408Asp) n.6742T>A | |
| 1 | g.235759294C>A | CA344940952 | LYST | c.1234G>T (p.Val412Phe) c.*1983G>T (n.*1983G>T) c.268G>T (p.Val90Phe) c.991G>T (p.Val331Phe) c.6559G>T (p.Val2187Phe) n.6950G>T c.6421G>T (p.Val2141Phe) c.4222G>T (p.Val1408Phe) n.6741G>T | COSMIC |
| 1 | g.235759294C= | CA1143716044 | LYST | c.1234G= (p.Val412=) c.*1983G= (n.*1983G=) c.268G= (p.Val90=) c.991G= (p.Val331=) c.6559G= (p.Val2187=) n.6950G= c.6421G= (p.Val2141=) c.4222G= (p.Val1408=) n.6741G= | |
| 1 | g.235759294C>G | CA344940953 | LYST | c.1234G>C (p.Val412Leu) c.*1983G>C (n.*1983G>C) c.268G>C (p.Val90Leu) c.991G>C (p.Val331Leu) c.6559G>C (p.Val2187Leu) n.6950G>C c.6421G>C (p.Val2141Leu) c.4222G>C (p.Val1408Leu) n.6741G>C | |
| 1 | g.235759294C>T | CA1466349 | LYST | c.1234G>A (p.Val412Ile) c.*1983G>A (n.*1983G>A) c.268G>A (p.Val90Ile) c.991G>A (p.Val331Ile) c.6559G>A (p.Val2187Ile) n.6950G>A c.6421G>A (p.Val2141Ile) c.4222G>A (p.Val1408Ile) n.6741G>A | dbSNP ExAC gnomAD v2 |
| 1 | g.235759295A>C | CA424025176 | LYST | c.1233T>G (p.Ser411=) c.*1982T>G (n.*1982T>G) c.267T>G (p.Ser89=) c.990T>G (p.Ser330=) c.6558T>G (p.Ser2186=) n.6949T>G c.6420T>G (p.Ser2140=) c.4221T>G (p.Ser1407=) n.6740T>G | gnomAD v4 |
| 1 | g.235759295A>G | CA424025178 | LYST | c.1233T>C (p.Ser411=) c.*1982T>C (n.*1982T>C) c.267T>C (p.Ser89=) c.990T>C (p.Ser330=) c.6558T>C (p.Ser2186=) n.6949T>C c.6420T>C (p.Ser2140=) c.4221T>C (p.Ser1407=) n.6740T>C | |
| 1 | g.235759295A>T | CA424025179 | LYST | c.1233T>A (p.Ser411=) c.*1982T>A (n.*1982T>A) c.267T>A (p.Ser89=) c.990T>A (p.Ser330=) c.6558T>A (p.Ser2186=) n.6949T>A c.6420T>A (p.Ser2140=) c.4221T>A (p.Ser1407=) n.6740T>A | gnomAD v4 |
| 1 | g.235759296G>A | CA344940957 | LYST | c.1232C>T (p.Ser411Phe) c.*1981C>T (n.*1981C>T) c.266C>T (p.Ser89Phe) c.989C>T (p.Ser330Phe) c.6557C>T (p.Ser2186Phe) n.6948C>T c.6419C>T (p.Ser2140Phe) c.4220C>T (p.Ser1407Phe) n.6739C>T | gnomAD v4 |
| 1 | g.235759296G>C | CA344940962 | LYST | c.1232C>G (p.Ser411Cys) c.*1981C>G (n.*1981C>G) c.266C>G (p.Ser89Cys) c.989C>G (p.Ser330Cys) c.6557C>G (p.Ser2186Cys) n.6948C>G c.6419C>G (p.Ser2140Cys) c.4220C>G (p.Ser1407Cys) n.6739C>G | |
| 1 | g.235759296G>T | CA344940970 | LYST | c.1232C>A (p.Ser411Tyr) c.*1981C>A (n.*1981C>A) c.266C>A (p.Ser89Tyr) c.989C>A (p.Ser330Tyr) c.6557C>A (p.Ser2186Tyr) n.6948C>A c.6419C>A (p.Ser2140Tyr) c.4220C>A (p.Ser1407Tyr) n.6739C>A | |
| 1 | g.235759297A= | CA1143915031 | LYST | c.1231T= (p.Ser411=) c.*1980T= (n.*1980T=) c.265T= (p.Ser89=) c.988T= (p.Ser330=) c.6556T= (p.Ser2186=) n.6947T= c.6418T= (p.Ser2140=) c.4219T= (p.Ser1407=) n.6738T= | |
| 1 | g.235759297A>C | CA344940980 | LYST | c.1231T>G (p.Ser411Ala) c.*1980T>G (n.*1980T>G) c.265T>G (p.Ser89Ala) c.988T>G (p.Ser330Ala) c.6556T>G (p.Ser2186Ala) n.6947T>G c.6418T>G (p.Ser2140Ala) c.4219T>G (p.Ser1407Ala) n.6738T>G | |
| 1 | g.235759297A>G | CA1466350 | LYST | c.1231T>C (p.Ser411Pro) c.*1980T>C (n.*1980T>C) c.265T>C (p.Ser89Pro) c.988T>C (p.Ser330Pro) c.6556T>C (p.Ser2186Pro) n.6947T>C c.6418T>C (p.Ser2140Pro) c.4219T>C (p.Ser1407Pro) n.6738T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759297A>T | CA344940975 | LYST | c.1231T>A (p.Ser411Thr) c.*1980T>A (n.*1980T>A) c.265T>A (p.Ser89Thr) c.988T>A (p.Ser330Thr) c.6556T>A (p.Ser2186Thr) n.6947T>A c.6418T>A (p.Ser2140Thr) c.4219T>A (p.Ser1407Thr) n.6738T>A | |
| 1 | g.235759298G>A | CA424025192 | LYST | c.1230C>T (p.Val410=) c.*1979C>T (n.*1979C>T) c.264C>T (p.Val88=) c.987C>T (p.Val329=) c.6555C>T (p.Val2185=) n.6946C>T c.6417C>T (p.Val2139=) c.4218C>T (p.Val1406=) n.6737C>T | |
| 1 | g.235759298G>C | CA424025187 | LYST | c.1230C>G (p.Val410=) c.*1979C>G (n.*1979C>G) c.264C>G (p.Val88=) c.987C>G (p.Val329=) c.6555C>G (p.Val2185=) n.6946C>G c.6417C>G (p.Val2139=) c.4218C>G (p.Val1406=) n.6737C>G | |
| 1 | g.235759298G>T | CA424025190 | LYST | c.1230C>A (p.Val410=) c.*1979C>A (n.*1979C>A) c.264C>A (p.Val88=) c.987C>A (p.Val329=) c.6555C>A (p.Val2185=) n.6946C>A c.6417C>A (p.Val2139=) c.4218C>A (p.Val1406=) n.6737C>A | |
| 1 | g.235759299A>C | CA344940986 | LYST | c.1229T>G (p.Val410Gly) c.*1978T>G (n.*1978T>G) c.263T>G (p.Val88Gly) c.986T>G (p.Val329Gly) c.6554T>G (p.Val2185Gly) n.6945T>G c.6416T>G (p.Val2139Gly) c.4217T>G (p.Val1406Gly) n.6736T>G | |
| 1 | g.235759299A>G | CA344940991 | LYST | c.1229T>C (p.Val410Ala) c.*1978T>C (n.*1978T>C) c.263T>C (p.Val88Ala) c.986T>C (p.Val329Ala) c.6554T>C (p.Val2185Ala) n.6945T>C c.6416T>C (p.Val2139Ala) c.4217T>C (p.Val1406Ala) n.6736T>C | |
| 1 | g.235759299A>T | CA344940997 | LYST | c.1229T>A (p.Val410Asp) c.*1978T>A (n.*1978T>A) c.263T>A (p.Val88Asp) c.986T>A (p.Val329Asp) c.6554T>A (p.Val2185Asp) n.6945T>A c.6416T>A (p.Val2139Asp) c.4217T>A (p.Val1406Asp) n.6736T>A | |
| 1 | g.235759300C>A | CA344941000 | LYST | c.1228G>T (p.Val410Phe) c.*1977G>T (n.*1977G>T) c.262G>T (p.Val88Phe) c.985G>T (p.Val329Phe) c.6553G>T (p.Val2185Phe) n.6944G>T c.6415G>T (p.Val2139Phe) c.4216G>T (p.Val1406Phe) n.6735G>T | |
| 1 | g.235759300C>G | CA344941009 | LYST | c.1228G>C (p.Val410Leu) c.*1977G>C (n.*1977G>C) c.262G>C (p.Val88Leu) c.985G>C (p.Val329Leu) c.6553G>C (p.Val2185Leu) n.6944G>C c.6415G>C (p.Val2139Leu) c.4216G>C (p.Val1406Leu) n.6735G>C | |
| 1 | g.235759300C>T | CA344941011 | LYST | c.1228G>A (p.Val410Ile) c.*1977G>A (n.*1977G>A) c.262G>A (p.Val88Ile) c.985G>A (p.Val329Ile) c.6553G>A (p.Val2185Ile) n.6944G>A c.6415G>A (p.Val2139Ile) c.4216G>A (p.Val1406Ile) n.6735G>A | |
| 1 | g.235759301C>A | CA344941018 | LYST | c.1227G>T (p.Gln409His) c.*1976G>T (n.*1976G>T) c.261G>T (p.Gln87His) c.984G>T (p.Gln328His) c.6552G>T (p.Gln2184His) n.6943G>T c.6414G>T (p.Gln2138His) c.4215G>T (p.Gln1405His) n.6734G>T | gnomAD v3 gnomAD v4 |
| 1 | g.235759301C= | CA2486632344 | LYST | c.1227G= (p.Gln409=) c.*1976G= (n.*1976G=) c.261G= (p.Gln87=) c.984G= (p.Gln328=) c.6552G= (p.Gln2184=) n.6943G= c.6414G= (p.Gln2138=) c.4215G= (p.Gln1405=) n.6734G= | |
| 1 | g.235759301C>G | CA344941031 | LYST | c.1227G>C (p.Gln409His) c.*1976G>C (n.*1976G>C) c.261G>C (p.Gln87His) c.984G>C (p.Gln328His) c.6552G>C (p.Gln2184His) n.6943G>C c.6414G>C (p.Gln2138His) c.4215G>C (p.Gln1405His) n.6734G>C | |
| 1 | g.235759301C>T | CA1466351 | LYST | c.1227G>A (p.Gln409=) c.*1976G>A (n.*1976G>A) c.261G>A (p.Gln87=) c.984G>A (p.Gln328=) c.6552G>A (p.Gln2184=) n.6943G>A c.6414G>A (p.Gln2138=) c.4215G>A (p.Gln1405=) n.6734G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759302T>A | CA344941033 | LYST | c.1226A>T (p.Gln409Leu) c.*1975A>T (n.*1975A>T) c.260A>T (p.Gln87Leu) c.983A>T (p.Gln328Leu) c.6551A>T (p.Gln2184Leu) n.6942A>T c.6413A>T (p.Gln2138Leu) c.4214A>T (p.Gln1405Leu) n.6733A>T | |
| 1 | g.235759302T>C | CA344941034 | LYST | c.1226A>G (p.Gln409Arg) c.*1975A>G (n.*1975A>G) c.260A>G (p.Gln87Arg) c.983A>G (p.Gln328Arg) c.6551A>G (p.Gln2184Arg) n.6942A>G c.6413A>G (p.Gln2138Arg) c.4214A>G (p.Gln1405Arg) n.6733A>G | ClinVar |
| 1 | g.235759302T>G | CA344941035 | LYST | c.1226A>C (p.Gln409Pro) c.*1975A>C (n.*1975A>C) c.260A>C (p.Gln87Pro) c.983A>C (p.Gln328Pro) c.6551A>C (p.Gln2184Pro) n.6942A>C c.6413A>C (p.Gln2138Pro) c.4214A>C (p.Gln1405Pro) n.6733A>C | |
| 1 | g.235759303G>A | CA344941036 | LYST | c.1225C>T (p.Gln409Ter) c.*1974C>T (n.*1974C>T) c.259C>T (p.Gln87Ter) c.982C>T (p.Gln328Ter) c.6550C>T (p.Gln2184Ter) n.6941C>T c.6412C>T (p.Gln2138Ter) c.4213C>T (p.Gln1405Ter) n.6732C>T | |
| 1 | g.235759303G>C | CA344941037 | LYST | c.1225C>G (p.Gln409Glu) c.*1974C>G (n.*1974C>G) c.259C>G (p.Gln87Glu) c.982C>G (p.Gln328Glu) c.6550C>G (p.Gln2184Glu) n.6941C>G c.6412C>G (p.Gln2138Glu) c.4213C>G (p.Gln1405Glu) n.6732C>G | |
| 1 | g.235759303G>T | CA344941038 | LYST | c.1225C>A (p.Gln409Lys) c.*1974C>A (n.*1974C>A) c.259C>A (p.Gln87Lys) c.982C>A (p.Gln328Lys) c.6550C>A (p.Gln2184Lys) n.6941C>A c.6412C>A (p.Gln2138Lys) c.4213C>A (p.Gln1405Lys) n.6732C>A | |
| 1 | g.235759304G>A | CA424025213 | LYST | c.1224C>T (p.Ala408=) c.*1973C>T (n.*1973C>T) c.258C>T (p.Ala86=) c.981C>T (p.Ala327=) c.6549C>T (p.Ala2183=) n.6940C>T c.6411C>T (p.Ala2137=) c.4212C>T (p.Ala1404=) n.6731C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759304G>C | CA424025215 | LYST | c.1224C>G (p.Ala408=) c.*1973C>G (n.*1973C>G) c.258C>G (p.Ala86=) c.981C>G (p.Ala327=) c.6549C>G (p.Ala2183=) n.6940C>G c.6411C>G (p.Ala2137=) c.4212C>G (p.Ala1404=) n.6731C>G | |
| 1 | g.235759304G= | CA2486632345 | LYST | c.1224C= (p.Ala408=) c.*1973C= (n.*1973C=) c.258C= (p.Ala86=) c.981C= (p.Ala327=) c.6549C= (p.Ala2183=) n.6940C= c.6411C= (p.Ala2137=) c.4212C= (p.Ala1404=) n.6731C= | |
| 1 | g.235759304G>T | CA424025217 | LYST | c.1224C>A (p.Ala408=) c.*1973C>A (n.*1973C>A) c.258C>A (p.Ala86=) c.981C>A (p.Ala327=) c.6549C>A (p.Ala2183=) n.6940C>A c.6411C>A (p.Ala2137=) c.4212C>A (p.Ala1404=) n.6731C>A | |
| 1 | g.235759305G>A | CA39616191 | LYST | c.1223C>T (p.Ala408Val) c.*1972C>T (n.*1972C>T) c.257C>T (p.Ala86Val) c.980C>T (p.Ala327Val) c.6548C>T (p.Ala2183Val) n.6939C>T c.6410C>T (p.Ala2137Val) c.4211C>T (p.Ala1404Val) n.6730C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759305G>C | CA344941039 | LYST | c.1223C>G (p.Ala408Gly) c.*1972C>G (n.*1972C>G) c.257C>G (p.Ala86Gly) c.980C>G (p.Ala327Gly) c.6548C>G (p.Ala2183Gly) n.6939C>G c.6410C>G (p.Ala2137Gly) c.4211C>G (p.Ala1404Gly) n.6730C>G | ClinVar |
| 1 | g.235759305G= | CA2486632346 | LYST | c.1223C= (p.Ala408=) c.*1972C= (n.*1972C=) c.257C= (p.Ala86=) c.980C= (p.Ala327=) c.6548C= (p.Ala2183=) n.6939C= c.6410C= (p.Ala2137=) c.4211C= (p.Ala1404=) n.6730C= | |
| 1 | g.235759305G>T | CA344941040 | LYST | c.1223C>A (p.Ala408Asp) c.*1972C>A (n.*1972C>A) c.257C>A (p.Ala86Asp) c.980C>A (p.Ala327Asp) c.6548C>A (p.Ala2183Asp) n.6939C>A c.6410C>A (p.Ala2137Asp) c.4211C>A (p.Ala1404Asp) n.6730C>A | |
| 1 | g.235759306C>A | CA344941045 | LYST | c.1222G>T (p.Ala408Ser) c.*1971G>T (n.*1971G>T) c.256G>T (p.Ala86Ser) c.979G>T (p.Ala327Ser) c.6547G>T (p.Ala2183Ser) n.6938G>T c.6409G>T (p.Ala2137Ser) c.4210G>T (p.Ala1404Ser) n.6729G>T | COSMIC |
| 1 | g.235759306C>G | CA344941048 | LYST | c.1222G>C (p.Ala408Pro) c.*1971G>C (n.*1971G>C) c.256G>C (p.Ala86Pro) c.979G>C (p.Ala327Pro) c.6547G>C (p.Ala2183Pro) n.6938G>C c.6409G>C (p.Ala2137Pro) c.4210G>C (p.Ala1404Pro) n.6729G>C | |
| 1 | g.235759306C>T | CA344941050 | LYST | c.1222G>A (p.Ala408Thr) c.*1971G>A (n.*1971G>A) c.256G>A (p.Ala86Thr) c.979G>A (p.Ala327Thr) c.6547G>A (p.Ala2183Thr) n.6938G>A c.6409G>A (p.Ala2137Thr) c.4210G>A (p.Ala1404Thr) n.6729G>A | |
| 1 | g.235759307T>A | CA424025233 | LYST | c.1221A>T (p.Ser407=) c.*1970A>T (n.*1970A>T) c.255A>T (p.Ser85=) c.978A>T (p.Ser326=) c.6546A>T (p.Ser2182=) n.6937A>T c.6408A>T (p.Ser2136=) c.4209A>T (p.Ser1403=) n.6728A>T | |
| 1 | g.235759307T>C | CA424025235 | LYST | c.1221A>G (p.Ser407=) c.*1970A>G (n.*1970A>G) c.255A>G (p.Ser85=) c.978A>G (p.Ser326=) c.6546A>G (p.Ser2182=) n.6937A>G c.6408A>G (p.Ser2136=) c.4209A>G (p.Ser1403=) n.6728A>G | dbSNP |
| 1 | g.235759307T>G | CA424025237 | LYST | c.1221A>C (p.Ser407=) c.*1970A>C (n.*1970A>C) c.255A>C (p.Ser85=) c.978A>C (p.Ser326=) c.6546A>C (p.Ser2182=) n.6937A>C c.6408A>C (p.Ser2136=) c.4209A>C (p.Ser1403=) n.6728A>C | |
| 1 | g.235759307T= | CA2486632347 | LYST | c.1221A= (p.Ser407=) c.*1970A= (n.*1970A=) c.255A= (p.Ser85=) c.978A= (p.Ser326=) c.6546A= (p.Ser2182=) n.6937A= c.6408A= (p.Ser2136=) c.4209A= (p.Ser1403=) n.6728A= | |
| 1 | g.235759308G>A | CA344941052 | LYST | c.1220C>T (p.Ser407Leu) c.*1969C>T (n.*1969C>T) c.254C>T (p.Ser85Leu) c.977C>T (p.Ser326Leu) c.6545C>T (p.Ser2182Leu) n.6936C>T c.6407C>T (p.Ser2136Leu) c.4208C>T (p.Ser1403Leu) n.6727C>T | ClinVar gnomAD v4 |
| 1 | g.235759308G>C | CA344941055 | LYST | c.1220C>G (p.Ser407Ter) c.*1969C>G (n.*1969C>G) c.254C>G (p.Ser85Ter) c.977C>G (p.Ser326Ter) c.6545C>G (p.Ser2182Ter) n.6936C>G c.6407C>G (p.Ser2136Ter) c.4208C>G (p.Ser1403Ter) n.6727C>G | |
| 1 | g.235759308G>T | CA344941054 | LYST | c.1220C>A (p.Ser407Ter) c.*1969C>A (n.*1969C>A) c.254C>A (p.Ser85Ter) c.977C>A (p.Ser326Ter) c.6545C>A (p.Ser2182Ter) n.6936C>A c.6407C>A (p.Ser2136Ter) c.4208C>A (p.Ser1403Ter) n.6727C>A | |
| 1 | g.235759309A>C | CA344941058 | LYST | c.1219T>G (p.Ser407Ala) c.*1968T>G (n.*1968T>G) c.253T>G (p.Ser85Ala) c.976T>G (p.Ser326Ala) c.6544T>G (p.Ser2182Ala) n.6935T>G c.6406T>G (p.Ser2136Ala) c.4207T>G (p.Ser1403Ala) n.6726T>G | |
| 1 | g.235759309A>G | CA344941061 | LYST | c.1219T>C (p.Ser407Pro) c.*1968T>C (n.*1968T>C) c.253T>C (p.Ser85Pro) c.976T>C (p.Ser326Pro) c.6544T>C (p.Ser2182Pro) n.6935T>C c.6406T>C (p.Ser2136Pro) c.4207T>C (p.Ser1403Pro) n.6726T>C | |
| 1 | g.235759309A>T | CA344941076 | LYST | c.1219T>A (p.Ser407Thr) c.*1968T>A (n.*1968T>A) c.253T>A (p.Ser85Thr) c.976T>A (p.Ser326Thr) c.6544T>A (p.Ser2182Thr) n.6935T>A c.6406T>A (p.Ser2136Thr) c.4207T>A (p.Ser1403Thr) n.6726T>A | |
| 1 | g.235759310G>A | CA424025247 | LYST | c.1218C>T (p.Leu406=) c.*1967C>T (n.*1967C>T) c.252C>T (p.Leu84=) c.975C>T (p.Leu325=) c.6543C>T (p.Leu2181=) n.6934C>T c.6405C>T (p.Leu2135=) c.4206C>T (p.Leu1402=) n.6725C>T | |
| 1 | g.235759310G>C | CA424025249 | LYST | c.1218C>G (p.Leu406=) c.*1967C>G (n.*1967C>G) c.252C>G (p.Leu84=) c.975C>G (p.Leu325=) c.6543C>G (p.Leu2181=) n.6934C>G c.6405C>G (p.Leu2135=) c.4206C>G (p.Leu1402=) n.6725C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759310G= | CA2486632348 | LYST | c.1218C= (p.Leu406=) c.*1967C= (n.*1967C=) c.252C= (p.Leu84=) c.975C= (p.Leu325=) c.6543C= (p.Leu2181=) n.6934C= c.6405C= (p.Leu2135=) c.4206C= (p.Leu1402=) n.6725C= | |
| 1 | g.235759310G>T | CA424025252 | LYST | c.1218C>A (p.Leu406=) c.*1967C>A (n.*1967C>A) c.252C>A (p.Leu84=) c.975C>A (p.Leu325=) c.6543C>A (p.Leu2181=) n.6934C>A c.6405C>A (p.Leu2135=) c.4206C>A (p.Leu1402=) n.6725C>A | |
| 1 | g.235759311A>C | CA344941079 | LYST | c.1217T>G (p.Leu406Arg) c.*1966T>G (n.*1966T>G) c.251T>G (p.Leu84Arg) c.974T>G (p.Leu325Arg) c.6542T>G (p.Leu2181Arg) n.6933T>G c.6404T>G (p.Leu2135Arg) c.4205T>G (p.Leu1402Arg) n.6724T>G | |
| 1 | g.235759311A>G | CA344941084 | LYST | c.1217T>C (p.Leu406Pro) c.*1966T>C (n.*1966T>C) c.251T>C (p.Leu84Pro) c.974T>C (p.Leu325Pro) c.6542T>C (p.Leu2181Pro) n.6933T>C c.6404T>C (p.Leu2135Pro) c.4205T>C (p.Leu1402Pro) n.6724T>C | |
| 1 | g.235759311A>T | CA344941085 | LYST | c.1217T>A (p.Leu406His) c.*1966T>A (n.*1966T>A) c.251T>A (p.Leu84His) c.974T>A (p.Leu325His) c.6542T>A (p.Leu2181His) n.6933T>A c.6404T>A (p.Leu2135His) c.4205T>A (p.Leu1402His) n.6724T>A | |
| 1 | g.235759312G>A | CA344941086 | LYST | c.1216C>T (p.Leu406Phe) c.*1965C>T (n.*1965C>T) c.250C>T (p.Leu84Phe) c.973C>T (p.Leu325Phe) c.6541C>T (p.Leu2181Phe) n.6932C>T c.6403C>T (p.Leu2135Phe) c.4204C>T (p.Leu1402Phe) n.6723C>T | |
| 1 | g.235759312G>C | CA344941087 | LYST | c.1216C>G (p.Leu406Val) c.*1965C>G (n.*1965C>G) c.250C>G (p.Leu84Val) c.973C>G (p.Leu325Val) c.6541C>G (p.Leu2181Val) n.6932C>G c.6403C>G (p.Leu2135Val) c.4204C>G (p.Leu1402Val) n.6723C>G | |
| 1 | g.235759312G>T | CA344941088 | LYST | c.1216C>A (p.Leu406Ile) c.*1965C>A (n.*1965C>A) c.250C>A (p.Leu84Ile) c.973C>A (p.Leu325Ile) c.6541C>A (p.Leu2181Ile) n.6932C>A c.6403C>A (p.Leu2135Ile) c.4204C>A (p.Leu1402Ile) n.6723C>A | |
| 1 | g.235759313G>A | CA424025266 | LYST | c.1215C>T (p.Val405=) c.*1964C>T (n.*1964C>T) c.249C>T (p.Val83=) c.972C>T (p.Val324=) c.6540C>T (p.Val2180=) n.6931C>T c.6402C>T (p.Val2134=) c.4203C>T (p.Val1401=) n.6722C>T | |
| 1 | g.235759313G>C | CA424025268 | LYST | c.1215C>G (p.Val405=) c.*1964C>G (n.*1964C>G) c.249C>G (p.Val83=) c.972C>G (p.Val324=) c.6540C>G (p.Val2180=) n.6931C>G c.6402C>G (p.Val2134=) c.4203C>G (p.Val1401=) n.6722C>G | |
| 1 | g.235759313G>T | CA424025270 | LYST | c.1215C>A (p.Val405=) c.*1964C>A (n.*1964C>A) c.249C>A (p.Val83=) c.972C>A (p.Val324=) c.6540C>A (p.Val2180=) n.6931C>A c.6402C>A (p.Val2134=) c.4203C>A (p.Val1401=) n.6722C>A | |
| 1 | g.235759314A>C | CA344941090 | LYST | c.1214T>G (p.Val405Gly) c.*1963T>G (n.*1963T>G) c.248T>G (p.Val83Gly) c.971T>G (p.Val324Gly) c.6539T>G (p.Val2180Gly) n.6930T>G c.6401T>G (p.Val2134Gly) c.4202T>G (p.Val1401Gly) n.6721T>G | |
| 1 | g.235759314A>G | CA344941091 | LYST | c.1214T>C (p.Val405Ala) c.*1963T>C (n.*1963T>C) c.248T>C (p.Val83Ala) c.971T>C (p.Val324Ala) c.6539T>C (p.Val2180Ala) n.6930T>C c.6401T>C (p.Val2134Ala) c.4202T>C (p.Val1401Ala) n.6721T>C | |
| 1 | g.235759314A>T | CA344941093 | LYST | c.1214T>A (p.Val405Asp) c.*1963T>A (n.*1963T>A) c.248T>A (p.Val83Asp) c.971T>A (p.Val324Asp) c.6539T>A (p.Val2180Asp) n.6930T>A c.6401T>A (p.Val2134Asp) c.4202T>A (p.Val1401Asp) n.6721T>A | |
| 1 | g.235759315del | CA2651136842 | LYST | c.1213del (p.Val405SerfsTer?) c.*1962del (n.*1962del) c.247del (p.Val83SerfsTer?) c.970del (p.Val324SerfsTer?) c.6538del (p.Val2180SerfsTer?) n.6929del c.6400del (p.Val2134SerfsTer?) c.4201del (p.Val1401SerfsTer?) n.6720del | gnomAD v4 |
| 1 | g.235759315C>A | CA344941122 | LYST | c.1213G>T (p.Val405Phe) c.*1962G>T (n.*1962G>T) c.247G>T (p.Val83Phe) c.970G>T (p.Val324Phe) c.6538G>T (p.Val2180Phe) n.6929G>T c.6400G>T (p.Val2134Phe) c.4201G>T (p.Val1401Phe) n.6720G>T | |
| 1 | g.235759315C>G | CA344941097 | LYST | c.1213G>C (p.Val405Leu) c.*1962G>C (n.*1962G>C) c.247G>C (p.Val83Leu) c.970G>C (p.Val324Leu) c.6538G>C (p.Val2180Leu) n.6929G>C c.6400G>C (p.Val2134Leu) c.4201G>C (p.Val1401Leu) n.6720G>C | |
| 1 | g.235759315C>T | CA344941107 | LYST | c.1213G>A (p.Val405Ile) c.*1962G>A (n.*1962G>A) c.247G>A (p.Val83Ile) c.970G>A (p.Val324Ile) c.6538G>A (p.Val2180Ile) n.6929G>A c.6400G>A (p.Val2134Ile) c.4201G>A (p.Val1401Ile) n.6720G>A | |
| 1 | g.235759316A>C | CA424025280 | LYST | c.1212T>G (p.Ala404=) c.*1961T>G (n.*1961T>G) c.246T>G (p.Ala82=) c.969T>G (p.Ala323=) c.6537T>G (p.Ala2179=) n.6928T>G c.6399T>G (p.Ala2133=) c.4200T>G (p.Ala1400=) n.6719T>G | |
| 1 | g.235759316A>G | CA424025281 | LYST | c.1212T>C (p.Ala404=) c.*1961T>C (n.*1961T>C) c.246T>C (p.Ala82=) c.969T>C (p.Ala323=) c.6537T>C (p.Ala2179=) n.6928T>C c.6399T>C (p.Ala2133=) c.4200T>C (p.Ala1400=) n.6719T>C | |
| 1 | g.235759316A>T | CA424025282 | LYST | c.1212T>A (p.Ala404=) c.*1961T>A (n.*1961T>A) c.246T>A (p.Ala82=) c.969T>A (p.Ala323=) c.6537T>A (p.Ala2179=) n.6928T>A c.6399T>A (p.Ala2133=) c.4200T>A (p.Ala1400=) n.6719T>A | |
| 1 | g.235759317G>A | CA344941123 | LYST | c.1211C>T (p.Ala404Val) c.*1960C>T (n.*1960C>T) c.245C>T (p.Ala82Val) c.968C>T (p.Ala323Val) c.6536C>T (p.Ala2179Val) n.6927C>T c.6398C>T (p.Ala2133Val) c.4199C>T (p.Ala1400Val) n.6718C>T | |
| 1 | g.235759317G>C | CA344941124 | LYST | c.1211C>G (p.Ala404Gly) c.*1960C>G (n.*1960C>G) c.245C>G (p.Ala82Gly) c.968C>G (p.Ala323Gly) c.6536C>G (p.Ala2179Gly) n.6927C>G c.6398C>G (p.Ala2133Gly) c.4199C>G (p.Ala1400Gly) n.6718C>G | |
| 1 | g.235759317G>T | CA344941125 | LYST | c.1211C>A (p.Ala404Asp) c.*1960C>A (n.*1960C>A) c.245C>A (p.Ala82Asp) c.968C>A (p.Ala323Asp) c.6536C>A (p.Ala2179Asp) n.6927C>A c.6398C>A (p.Ala2133Asp) c.4199C>A (p.Ala1400Asp) n.6718C>A | |
| 1 | g.235759318C>A | CA344941126 | LYST | c.1210G>T (p.Ala404Ser) c.*1959G>T (n.*1959G>T) c.244G>T (p.Ala82Ser) c.967G>T (p.Ala323Ser) c.6535G>T (p.Ala2179Ser) n.6926G>T c.6397G>T (p.Ala2133Ser) c.4198G>T (p.Ala1400Ser) n.6717G>T | COSMIC |
| 1 | g.235759318C>G | CA344941131 | LYST | c.1210G>C (p.Ala404Pro) c.*1959G>C (n.*1959G>C) c.244G>C (p.Ala82Pro) c.967G>C (p.Ala323Pro) c.6535G>C (p.Ala2179Pro) n.6926G>C c.6397G>C (p.Ala2133Pro) c.4198G>C (p.Ala1400Pro) n.6717G>C | |
| 1 | g.235759318C>T | CA344941134 | LYST | c.1210G>A (p.Ala404Thr) c.*1959G>A (n.*1959G>A) c.244G>A (p.Ala82Thr) c.967G>A (p.Ala323Thr) c.6535G>A (p.Ala2179Thr) n.6926G>A c.6397G>A (p.Ala2133Thr) c.4198G>A (p.Ala1400Thr) n.6717G>A | |
| 1 | g.235759319T>A | CA344941135 | LYST | c.1209A>T (p.Glu403Asp) c.*1958A>T (n.*1958A>T) c.243A>T (p.Glu81Asp) c.966A>T (p.Glu322Asp) c.6534A>T (p.Glu2178Asp) n.6925A>T c.6396A>T (p.Glu2132Asp) c.4197A>T (p.Glu1399Asp) n.6716A>T | |
| 1 | g.235759319T>C | CA424025291 | LYST | c.1209A>G (p.Glu403=) c.*1958A>G (n.*1958A>G) c.243A>G (p.Glu81=) c.966A>G (p.Glu322=) c.6534A>G (p.Glu2178=) n.6925A>G c.6396A>G (p.Glu2132=) c.4197A>G (p.Glu1399=) n.6716A>G | |
| 1 | g.235759319T>G | CA344941143 | LYST | c.1209A>C (p.Glu403Asp) c.*1958A>C (n.*1958A>C) c.243A>C (p.Glu81Asp) c.966A>C (p.Glu322Asp) c.6534A>C (p.Glu2178Asp) n.6925A>C c.6396A>C (p.Glu2132Asp) c.4197A>C (p.Glu1399Asp) n.6716A>C | |
| 1 | g.235759320T>A | CA344941146 | LYST | c.1208A>T (p.Glu403Val) c.*1957A>T (n.*1957A>T) c.242A>T (p.Glu81Val) c.965A>T (p.Glu322Val) c.6533A>T (p.Glu2178Val) n.6924A>T c.6395A>T (p.Glu2132Val) c.4196A>T (p.Glu1399Val) n.6715A>T | |
| 1 | g.235759320T>C | CA344941147 | LYST | c.1208A>G (p.Glu403Gly) c.*1957A>G (n.*1957A>G) c.242A>G (p.Glu81Gly) c.965A>G (p.Glu322Gly) c.6533A>G (p.Glu2178Gly) n.6924A>G c.6395A>G (p.Glu2132Gly) c.4196A>G (p.Glu1399Gly) n.6715A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759320T>G | CA344941148 | LYST | c.1208A>C (p.Glu403Ala) c.*1957A>C (n.*1957A>C) c.242A>C (p.Glu81Ala) c.965A>C (p.Glu322Ala) c.6533A>C (p.Glu2178Ala) n.6924A>C c.6395A>C (p.Glu2132Ala) c.4196A>C (p.Glu1399Ala) n.6715A>C | |
| 1 | g.235759320T= | CA2486632349 | LYST | c.1208A= (p.Glu403=) c.*1957A= (n.*1957A=) c.242A= (p.Glu81=) c.965A= (p.Glu322=) c.6533A= (p.Glu2178=) n.6924A= c.6395A= (p.Glu2132=) c.4196A= (p.Glu1399=) n.6715A= | |
| 1 | g.235759321C>A | CA344941154 | LYST | c.1207G>T (p.Glu403Ter) c.*1956G>T (n.*1956G>T) c.241G>T (p.Glu81Ter) c.964G>T (p.Glu322Ter) c.6532G>T (p.Glu2178Ter) n.6923G>T c.6394G>T (p.Glu2132Ter) c.4195G>T (p.Glu1399Ter) n.6714G>T | |
| 1 | g.235759321C>G | CA344941153 | LYST | c.1207G>C (p.Glu403Gln) c.*1956G>C (n.*1956G>C) c.241G>C (p.Glu81Gln) c.964G>C (p.Glu322Gln) c.6532G>C (p.Glu2178Gln) n.6923G>C c.6394G>C (p.Glu2132Gln) c.4195G>C (p.Glu1399Gln) n.6714G>C | gnomAD v4 |
| 1 | g.235759321C>T | CA344941152 | LYST | c.1207G>A (p.Glu403Lys) c.*1956G>A (n.*1956G>A) c.241G>A (p.Glu81Lys) c.964G>A (p.Glu322Lys) c.6532G>A (p.Glu2178Lys) n.6923G>A c.6394G>A (p.Glu2132Lys) c.4195G>A (p.Glu1399Lys) n.6714G>A | |
| 1 | g.235759322C>A | CA344941156 | LYST | c.1206G>T (p.Met402Ile) c.*1955G>T (n.*1955G>T) c.240G>T (p.Met80Ile) c.963G>T (p.Met321Ile) c.6531G>T (p.Met2177Ile) n.6922G>T c.6393G>T (p.Met2131Ile) c.4194G>T (p.Met1398Ile) n.6713G>T | dbSNP gnomAD v4 |
| 1 | g.235759322C= | CA2486632350 | LYST | c.1206G= (p.Met402=) c.*1955G= (n.*1955G=) c.240G= (p.Met80=) c.963G= (p.Met321=) c.6531G= (p.Met2177=) n.6922G= c.6393G= (p.Met2131=) c.4194G= (p.Met1398=) n.6713G= | |
| 1 | g.235759322C>G | CA344941165 | LYST | c.1206G>C (p.Met402Ile) c.*1955G>C (n.*1955G>C) c.240G>C (p.Met80Ile) c.963G>C (p.Met321Ile) c.6531G>C (p.Met2177Ile) n.6922G>C c.6393G>C (p.Met2131Ile) c.4194G>C (p.Met1398Ile) n.6713G>C | |
| 1 | g.235759322C>T | CA344941159 | LYST | c.1206G>A (p.Met402Ile) c.*1955G>A (n.*1955G>A) c.240G>A (p.Met80Ile) c.963G>A (p.Met321Ile) c.6531G>A (p.Met2177Ile) n.6922G>A c.6393G>A (p.Met2131Ile) c.4194G>A (p.Met1398Ile) n.6713G>A | |
| 1 | g.235759323A>C | CA344941170 | LYST | c.1205T>G (p.Met402Arg) c.*1954T>G (n.*1954T>G) c.239T>G (p.Met80Arg) c.962T>G (p.Met321Arg) c.6530T>G (p.Met2177Arg) n.6921T>G c.6392T>G (p.Met2131Arg) c.4193T>G (p.Met1398Arg) n.6712T>G | |
| 1 | g.235759323A>G | CA344941177 | LYST | c.1205T>C (p.Met402Thr) c.*1954T>C (n.*1954T>C) c.239T>C (p.Met80Thr) c.962T>C (p.Met321Thr) c.6530T>C (p.Met2177Thr) n.6921T>C c.6392T>C (p.Met2131Thr) c.4193T>C (p.Met1398Thr) n.6712T>C | |
| 1 | g.235759323A>T | CA344941182 | LYST | c.1205T>A (p.Met402Lys) c.*1954T>A (n.*1954T>A) c.239T>A (p.Met80Lys) c.962T>A (p.Met321Lys) c.6530T>A (p.Met2177Lys) n.6921T>A c.6392T>A (p.Met2131Lys) c.4193T>A (p.Met1398Lys) n.6712T>A | |
| 1 | g.235759324T>A | CA344941184 | LYST | c.1204A>T (p.Met402Leu) c.*1953A>T (n.*1953A>T) c.238A>T (p.Met80Leu) c.961A>T (p.Met321Leu) c.6529A>T (p.Met2177Leu) n.6920A>T c.6391A>T (p.Met2131Leu) c.4192A>T (p.Met1398Leu) n.6711A>T | |
| 1 | g.235759324T>C | CA1466352 | LYST | c.1204A>G (p.Met402Val) c.*1953A>G (n.*1953A>G) c.238A>G (p.Met80Val) c.961A>G (p.Met321Val) c.6529A>G (p.Met2177Val) n.6920A>G c.6391A>G (p.Met2131Val) c.4192A>G (p.Met1398Val) n.6711A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759324T>G | CA344941199 | LYST | c.1204A>C (p.Met402Leu) c.*1953A>C (n.*1953A>C) c.238A>C (p.Met80Leu) c.961A>C (p.Met321Leu) c.6529A>C (p.Met2177Leu) n.6920A>C c.6391A>C (p.Met2131Leu) c.4192A>C (p.Met1398Leu) n.6711A>C | |
| 1 | g.235759324T= | CA1148401496 | LYST | c.1204A= (p.Met402=) c.*1953A= (n.*1953A=) c.238A= (p.Met80=) c.961A= (p.Met321=) c.6529A= (p.Met2177=) n.6920A= c.6391A= (p.Met2131=) c.4192A= (p.Met1398=) n.6711A= | |
| 1 | g.235759325T>A | CA344941204 | LYST | c.1203A>T (p.Glu401Asp) c.*1952A>T (n.*1952A>T) c.237A>T (p.Glu79Asp) c.960A>T (p.Glu320Asp) c.6528A>T (p.Glu2176Asp) n.6919A>T c.6390A>T (p.Glu2130Asp) c.4191A>T (p.Glu1397Asp) n.6710A>T | |
| 1 | g.235759325T>C | CA424025320 | LYST | c.1203A>G (p.Glu401=) c.*1952A>G (n.*1952A>G) c.237A>G (p.Glu79=) c.960A>G (p.Glu320=) c.6528A>G (p.Glu2176=) n.6919A>G c.6390A>G (p.Glu2130=) c.4191A>G (p.Glu1397=) n.6710A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759325T>G | CA344941206 | LYST | c.1203A>C (p.Glu401Asp) c.*1952A>C (n.*1952A>C) c.237A>C (p.Glu79Asp) c.960A>C (p.Glu320Asp) c.6528A>C (p.Glu2176Asp) n.6919A>C c.6390A>C (p.Glu2130Asp) c.4191A>C (p.Glu1397Asp) n.6710A>C | |
| 1 | g.235759325T= | CA2486632351 | LYST | c.1203A= (p.Glu401=) c.*1952A= (n.*1952A=) c.237A= (p.Glu79=) c.960A= (p.Glu320=) c.6528A= (p.Glu2176=) n.6919A= c.6390A= (p.Glu2130=) c.4191A= (p.Glu1397=) n.6710A= | |
| 1 | g.235759326T>A | CA344941215 | LYST | c.1202A>T (p.Glu401Val) c.*1951A>T (n.*1951A>T) c.236A>T (p.Glu79Val) c.959A>T (p.Glu320Val) c.6527A>T (p.Glu2176Val) n.6918A>T c.6389A>T (p.Glu2130Val) c.4190A>T (p.Glu1397Val) n.6709A>T | |
| 1 | g.235759326T>C | CA344941217 | LYST | c.1202A>G (p.Glu401Gly) c.*1951A>G (n.*1951A>G) c.236A>G (p.Glu79Gly) c.959A>G (p.Glu320Gly) c.6527A>G (p.Glu2176Gly) n.6918A>G c.6389A>G (p.Glu2130Gly) c.4190A>G (p.Glu1397Gly) n.6709A>G | |
| 1 | g.235759326T>G | CA344941220 | LYST | c.1202A>C (p.Glu401Ala) c.*1951A>C (n.*1951A>C) c.236A>C (p.Glu79Ala) c.959A>C (p.Glu320Ala) c.6527A>C (p.Glu2176Ala) n.6918A>C c.6389A>C (p.Glu2130Ala) c.4190A>C (p.Glu1397Ala) n.6709A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759326T= | CA2486632352 | LYST | c.1202A= (p.Glu401=) c.*1951A= (n.*1951A=) c.236A= (p.Glu79=) c.959A= (p.Glu320=) c.6527A= (p.Glu2176=) n.6918A= c.6389A= (p.Glu2130=) c.4190A= (p.Glu1397=) n.6709A= | |
| 1 | g.235759327C>A | CA344941226 | LYST | c.1201G>T (p.Glu401Ter) c.*1950G>T (n.*1950G>T) c.235G>T (p.Glu79Ter) c.958G>T (p.Glu320Ter) c.6526G>T (p.Glu2176Ter) n.6917G>T c.6388G>T (p.Glu2130Ter) c.4189G>T (p.Glu1397Ter) n.6708G>T | |
| 1 | g.235759327C= | CA2486632353 | LYST | c.1201G= (p.Glu401=) c.*1950G= (n.*1950G=) c.235G= (p.Glu79=) c.958G= (p.Glu320=) c.6526G= (p.Glu2176=) n.6917G= c.6388G= (p.Glu2130=) c.4189G= (p.Glu1397=) n.6708G= | |
| 1 | g.235759327C>G | CA344941235 | LYST | c.1201G>C (p.Glu401Gln) c.*1950G>C (n.*1950G>C) c.235G>C (p.Glu79Gln) c.958G>C (p.Glu320Gln) c.6526G>C (p.Glu2176Gln) n.6917G>C c.6388G>C (p.Glu2130Gln) c.4189G>C (p.Glu1397Gln) n.6708G>C | dbSNP |
| 1 | g.235759327C>T | CA344941237 | LYST | c.1201G>A (p.Glu401Lys) c.*1950G>A (n.*1950G>A) c.235G>A (p.Glu79Lys) c.958G>A (p.Glu320Lys) c.6526G>A (p.Glu2176Lys) n.6917G>A c.6388G>A (p.Glu2130Lys) c.4189G>A (p.Glu1397Lys) n.6708G>A | |
| 1 | g.235759328A>C | CA344941240 | LYST | c.1200T>G (p.Cys400Trp) c.*1949T>G (n.*1949T>G) c.234T>G (p.Cys78Trp) c.957T>G (p.Cys319Trp) c.6525T>G (p.Cys2175Trp) n.6916T>G c.6387T>G (p.Cys2129Trp) c.4188T>G (p.Cys1396Trp) n.6707T>G | |
| 1 | g.235759328A>G | CA424025333 | LYST | c.1200T>C (p.Cys400=) c.*1949T>C (n.*1949T>C) c.234T>C (p.Cys78=) c.957T>C (p.Cys319=) c.6525T>C (p.Cys2175=) n.6916T>C c.6387T>C (p.Cys2129=) c.4188T>C (p.Cys1396=) n.6707T>C | |
| 1 | g.235759328A>T | CA344941239 | LYST | c.1200T>A (p.Cys400Ter) c.*1949T>A (n.*1949T>A) c.234T>A (p.Cys78Ter) c.957T>A (p.Cys319Ter) c.6525T>A (p.Cys2175Ter) n.6916T>A c.6387T>A (p.Cys2129Ter) c.4188T>A (p.Cys1396Ter) n.6707T>A | |
| 1 | g.235759331_235759334del | CA2574160637 | LYST | c.1197_1200del (p.Cys400LysfsTer?) c.*1946_*1949del (n.*1946_*1949del) c.231_234del (p.Cys78LysfsTer?) c.954_957del (p.Cys319LysfsTer?) c.6522_6525del (p.Cys2175LysfsTer?) n.6913_6916del c.6384_6387del (p.Cys2129LysfsTer?) c.4185_4188del (p.Cys1396LysfsTer?) n.6704_6707del | |
| 1 | g.235759329C>A | CA1466353 | LYST | c.1199G>T (p.Cys400Phe) c.*1948G>T (n.*1948G>T) c.233G>T (p.Cys78Phe) c.956G>T (p.Cys319Phe) c.6524G>T (p.Cys2175Phe) n.6915G>T c.6386G>T (p.Cys2129Phe) c.4187G>T (p.Cys1396Phe) n.6706G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759329C= | CA2486632354 | LYST | c.1199G= (p.Cys400=) c.*1948G= (n.*1948G=) c.233G= (p.Cys78=) c.956G= (p.Cys319=) c.6524G= (p.Cys2175=) n.6915G= c.6386G= (p.Cys2129=) c.4187G= (p.Cys1396=) n.6706G= | |
| 1 | g.235759329C>G | CA344941245 | LYST | c.1199G>C (p.Cys400Ser) c.*1948G>C (n.*1948G>C) c.233G>C (p.Cys78Ser) c.956G>C (p.Cys319Ser) c.6524G>C (p.Cys2175Ser) n.6915G>C c.6386G>C (p.Cys2129Ser) c.4187G>C (p.Cys1396Ser) n.6706G>C | |
| 1 | g.235759329C>T | CA344941249 | LYST | c.1199G>A (p.Cys400Tyr) c.*1948G>A (n.*1948G>A) c.233G>A (p.Cys78Tyr) c.956G>A (p.Cys319Tyr) c.6524G>A (p.Cys2175Tyr) n.6915G>A c.6386G>A (p.Cys2129Tyr) c.4187G>A (p.Cys1396Tyr) n.6706G>A | |
| 1 | g.235759330A>C | CA344941257 | LYST | c.1198T>G (p.Cys400Gly) c.*1947T>G (n.*1947T>G) c.232T>G (p.Cys78Gly) c.955T>G (p.Cys319Gly) c.6523T>G (p.Cys2175Gly) n.6914T>G c.6385T>G (p.Cys2129Gly) c.4186T>G (p.Cys1396Gly) n.6705T>G | |
| 1 | g.235759330A>G | CA344941262 | LYST | c.1198T>C (p.Cys400Arg) c.*1947T>C (n.*1947T>C) c.232T>C (p.Cys78Arg) c.955T>C (p.Cys319Arg) c.6523T>C (p.Cys2175Arg) n.6914T>C c.6385T>C (p.Cys2129Arg) c.4186T>C (p.Cys1396Arg) n.6705T>C | gnomAD v4 |
| 1 | g.235759330A>T | CA344941263 | LYST | c.1198T>A (p.Cys400Ser) c.*1947T>A (n.*1947T>A) c.232T>A (p.Cys78Ser) c.955T>A (p.Cys319Ser) c.6523T>A (p.Cys2175Ser) n.6914T>A c.6385T>A (p.Cys2129Ser) c.4186T>A (p.Cys1396Ser) n.6705T>A | |
| 1 | g.235759331A>C | CA424025345 | LYST | c.1197T>G (p.Val399=) c.*1946T>G (n.*1946T>G) c.231T>G (p.Val77=) c.954T>G (p.Val318=) c.6522T>G (p.Val2174=) n.6913T>G c.6384T>G (p.Val2128=) c.4185T>G (p.Val1395=) n.6704T>G | gnomAD v4 |
| 1 | g.235759331A>G | CA424025347 | LYST | c.1197T>C (p.Val399=) c.*1946T>C (n.*1946T>C) c.231T>C (p.Val77=) c.954T>C (p.Val318=) c.6522T>C (p.Val2174=) n.6913T>C c.6384T>C (p.Val2128=) c.4185T>C (p.Val1395=) n.6704T>C | ClinVar gnomAD v4 |
| 1 | g.235759331A>T | CA424025346 | LYST | c.1197T>A (p.Val399=) c.*1946T>A (n.*1946T>A) c.231T>A (p.Val77=) c.954T>A (p.Val318=) c.6522T>A (p.Val2174=) n.6913T>A c.6384T>A (p.Val2128=) c.4185T>A (p.Val1395=) n.6704T>A | |
| 1 | g.235759332A>C | CA344941265 | LYST | c.1196T>G (p.Val399Gly) c.*1945T>G (n.*1945T>G) c.230T>G (p.Val77Gly) c.953T>G (p.Val318Gly) c.6521T>G (p.Val2174Gly) n.6912T>G c.6383T>G (p.Val2128Gly) c.4184T>G (p.Val1395Gly) n.6703T>G | |
| 1 | g.235759332A>G | CA344941278 | LYST | c.1196T>C (p.Val399Ala) c.*1945T>C (n.*1945T>C) c.230T>C (p.Val77Ala) c.953T>C (p.Val318Ala) c.6521T>C (p.Val2174Ala) n.6912T>C c.6383T>C (p.Val2128Ala) c.4184T>C (p.Val1395Ala) n.6703T>C | |
| 1 | g.235759332A>T | CA344941280 | LYST | c.1196T>A (p.Val399Asp) c.*1945T>A (n.*1945T>A) c.230T>A (p.Val77Asp) c.953T>A (p.Val318Asp) c.6521T>A (p.Val2174Asp) n.6912T>A c.6383T>A (p.Val2128Asp) c.4184T>A (p.Val1395Asp) n.6703T>A | |
| 1 | g.235759333_235759334del | CA2651136870 | LYST | c.1195_1196del (p.Val399LeufsTer2) c.*1944_*1945del (n.*1944_*1945del) c.229_230del (p.Val77LeufsTer2) c.952_953del (p.Val318LeufsTer2) c.6520_6521del (p.Val2174LeufsTer2) n.6911_6912del c.6382_6383del (p.Val2128LeufsTer2) c.4183_4184del (p.Val1395LeufsTer2) n.6702_6703del | gnomAD v4 |
| 1 | g.235759333C>A | CA1466354 | LYST | c.1195G>T (p.Val399Phe) c.*1944G>T (n.*1944G>T) c.229G>T (p.Val77Phe) c.952G>T (p.Val318Phe) c.6520G>T (p.Val2174Phe) n.6911G>T c.6382G>T (p.Val2128Phe) c.4183G>T (p.Val1395Phe) n.6702G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759333C= | CA2486632355 | LYST | c.1195G= (p.Val399=) c.*1944G= (n.*1944G=) c.229G= (p.Val77=) c.952G= (p.Val318=) c.6520G= (p.Val2174=) n.6911G= c.6382G= (p.Val2128=) c.4183G= (p.Val1395=) n.6702G= | |
| 1 | g.235759333C>G | CA344941290 | LYST | c.1195G>C (p.Val399Leu) c.*1944G>C (n.*1944G>C) c.229G>C (p.Val77Leu) c.952G>C (p.Val318Leu) c.6520G>C (p.Val2174Leu) n.6911G>C c.6382G>C (p.Val2128Leu) c.4183G>C (p.Val1395Leu) n.6702G>C | |
| 1 | g.235759333C>T | CA344941292 | LYST | c.1195G>A (p.Val399Ile) c.*1944G>A (n.*1944G>A) c.229G>A (p.Val77Ile) c.952G>A (p.Val318Ile) c.6520G>A (p.Val2174Ile) n.6911G>A c.6382G>A (p.Val2128Ile) c.4183G>A (p.Val1395Ile) n.6702G>A | |
| 1 | g.235759334A= | CA1143446703 | LYST | c.1194T= (p.Thr398=) c.*1943T= (n.*1943T=) c.228T= (p.Thr76=) c.951T= (p.Thr317=) c.6519T= (p.Thr2173=) n.6910T= c.6381T= (p.Thr2127=) c.4182T= (p.Thr1394=) n.6701T= | |
| 1 | g.235759334A>C | CA424025352 | LYST | c.1194T>G (p.Thr398=) c.*1943T>G (n.*1943T>G) c.228T>G (p.Thr76=) c.951T>G (p.Thr317=) c.6519T>G (p.Thr2173=) n.6910T>G c.6381T>G (p.Thr2127=) c.4182T>G (p.Thr1394=) n.6701T>G | ClinVar gnomAD v4 |
| 1 | g.235759334A>G | CA1466355 | LYST | c.1194T>C (p.Thr398=) c.*1943T>C (n.*1943T>C) c.228T>C (p.Thr76=) c.951T>C (p.Thr317=) c.6519T>C (p.Thr2173=) n.6910T>C c.6381T>C (p.Thr2127=) c.4182T>C (p.Thr1394=) n.6701T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759334A>T | CA424025355 | LYST | c.1194T>A (p.Thr398=) c.*1943T>A (n.*1943T>A) c.228T>A (p.Thr76=) c.951T>A (p.Thr317=) c.6519T>A (p.Thr2173=) n.6910T>A c.6381T>A (p.Thr2127=) c.4182T>A (p.Thr1394=) n.6701T>A | gnomAD v4 |
| 1 | g.235759335G>A | CA344941301 | LYST | c.1193C>T (p.Thr398Ile) c.*1942C>T (n.*1942C>T) c.227C>T (p.Thr76Ile) c.950C>T (p.Thr317Ile) c.6518C>T (p.Thr2173Ile) n.6909C>T c.6380C>T (p.Thr2127Ile) c.4181C>T (p.Thr1394Ile) n.6700C>T | |
| 1 | g.235759335G>C | CA1466356 | LYST | c.1193C>G (p.Thr398Ser) c.*1942C>G (n.*1942C>G) c.227C>G (p.Thr76Ser) c.950C>G (p.Thr317Ser) c.6518C>G (p.Thr2173Ser) n.6909C>G c.6380C>G (p.Thr2127Ser) c.4181C>G (p.Thr1394Ser) n.6700C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759335G= | CA2486632356 | LYST | c.1193C= (p.Thr398=) c.*1942C= (n.*1942C=) c.227C= (p.Thr76=) c.950C= (p.Thr317=) c.6518C= (p.Thr2173=) n.6909C= c.6380C= (p.Thr2127=) c.4181C= (p.Thr1394=) n.6700C= | |
| 1 | g.235759335G>T | CA344941295 | LYST | c.1193C>A (p.Thr398Asn) c.*1942C>A (n.*1942C>A) c.227C>A (p.Thr76Asn) c.950C>A (p.Thr317Asn) c.6518C>A (p.Thr2173Asn) n.6909C>A c.6380C>A (p.Thr2127Asn) c.4181C>A (p.Thr1394Asn) n.6700C>A | |
| 1 | g.235759336T>A | CA344941308 | LYST | c.1192A>T (p.Thr398Ser) c.*1941A>T (n.*1941A>T) c.226A>T (p.Thr76Ser) c.949A>T (p.Thr317Ser) c.6517A>T (p.Thr2173Ser) n.6908A>T c.6379A>T (p.Thr2127Ser) c.4180A>T (p.Thr1394Ser) n.6699A>T | |
| 1 | g.235759336T>C | CA344941310 | LYST | c.1192A>G (p.Thr398Ala) c.*1941A>G (n.*1941A>G) c.226A>G (p.Thr76Ala) c.949A>G (p.Thr317Ala) c.6517A>G (p.Thr2173Ala) n.6908A>G c.6379A>G (p.Thr2127Ala) c.4180A>G (p.Thr1394Ala) n.6699A>G | gnomAD v4 |
| 1 | g.235759336T>G | CA344941314 | LYST | c.1192A>C (p.Thr398Pro) c.*1941A>C (n.*1941A>C) c.226A>C (p.Thr76Pro) c.949A>C (p.Thr317Pro) c.6517A>C (p.Thr2173Pro) n.6908A>C c.6379A>C (p.Thr2127Pro) c.4180A>C (p.Thr1394Pro) n.6699A>C | |
| 1 | g.235759337T>A | CA344941319 | LYST | c.1191A>T (p.Lys397Asn) c.*1940A>T (n.*1940A>T) c.225A>T (p.Lys75Asn) c.948A>T (p.Lys316Asn) c.6516A>T (p.Lys2172Asn) n.6907A>T c.6378A>T (p.Lys2126Asn) c.4179A>T (p.Lys1393Asn) n.6698A>T | |
| 1 | g.235759337T>C | CA424025368 | LYST | c.1191A>G (p.Lys397=) c.*1940A>G (n.*1940A>G) c.225A>G (p.Lys75=) c.948A>G (p.Lys316=) c.6516A>G (p.Lys2172=) n.6907A>G c.6378A>G (p.Lys2126=) c.4179A>G (p.Lys1393=) n.6698A>G | |
| 1 | g.235759337T>G | CA344941323 | LYST | c.1191A>C (p.Lys397Asn) c.*1940A>C (n.*1940A>C) c.225A>C (p.Lys75Asn) c.948A>C (p.Lys316Asn) c.6516A>C (p.Lys2172Asn) n.6907A>C c.6378A>C (p.Lys2126Asn) c.4179A>C (p.Lys1393Asn) n.6698A>C | |
| 1 | g.235759338T>A | CA344941341 | LYST | c.1190A>T (p.Lys397Ile) c.*1939A>T (n.*1939A>T) c.224A>T (p.Lys75Ile) c.947A>T (p.Lys316Ile) c.6515A>T (p.Lys2172Ile) n.6906A>T c.6377A>T (p.Lys2126Ile) c.4178A>T (p.Lys1393Ile) n.6697A>T | |
| 1 | g.235759338T>C | CA344941336 | LYST | c.1190A>G (p.Lys397Arg) c.*1939A>G (n.*1939A>G) c.224A>G (p.Lys75Arg) c.947A>G (p.Lys316Arg) c.6515A>G (p.Lys2172Arg) n.6906A>G c.6377A>G (p.Lys2126Arg) c.4178A>G (p.Lys1393Arg) n.6697A>G | |
| 1 | g.235759338T>G | CA39616196 | LYST | c.1190A>C (p.Lys397Thr) c.*1939A>C (n.*1939A>C) c.224A>C (p.Lys75Thr) c.947A>C (p.Lys316Thr) c.6515A>C (p.Lys2172Thr) n.6906A>C c.6377A>C (p.Lys2126Thr) c.4178A>C (p.Lys1393Thr) n.6697A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759338T= | CA2486632357 | LYST | c.1190A= (p.Lys397=) c.*1939A= (n.*1939A=) c.224A= (p.Lys75=) c.947A= (p.Lys316=) c.6515A= (p.Lys2172=) n.6906A= c.6377A= (p.Lys2126=) c.4178A= (p.Lys1393=) n.6697A= | |
| 1 | g.235759339T>A | CA344941345 | LYST | c.1189A>T (p.Lys397Ter) c.*1938A>T (n.*1938A>T) c.223A>T (p.Lys75Ter) c.946A>T (p.Lys316Ter) c.6514A>T (p.Lys2172Ter) n.6905A>T c.6376A>T (p.Lys2126Ter) c.4177A>T (p.Lys1393Ter) n.6696A>T | |
| 1 | g.235759339T>C | CA344941348 | LYST | c.1189A>G (p.Lys397Glu) c.*1938A>G (n.*1938A>G) c.223A>G (p.Lys75Glu) c.946A>G (p.Lys316Glu) c.6514A>G (p.Lys2172Glu) n.6905A>G c.6376A>G (p.Lys2126Glu) c.4177A>G (p.Lys1393Glu) n.6696A>G | |
| 1 | g.235759339T>G | CA344941350 | LYST | c.1189A>C (p.Lys397Gln) c.*1938A>C (n.*1938A>C) c.223A>C (p.Lys75Gln) c.946A>C (p.Lys316Gln) c.6514A>C (p.Lys2172Gln) n.6905A>C c.6376A>C (p.Lys2126Gln) c.4177A>C (p.Lys1393Gln) n.6696A>C | |
| 1 | g.235759340T>A | CA424025381 | LYST | c.1188A>T (p.Ala396=) c.*1937A>T (n.*1937A>T) c.222A>T (p.Ala74=) c.945A>T (p.Ala315=) c.6513A>T (p.Ala2171=) n.6904A>T c.6375A>T (p.Ala2125=) c.4176A>T (p.Ala1392=) n.6695A>T | gnomAD v4 |
| 1 | g.235759340T>C | CA424025377 | LYST | c.1188A>G (p.Ala396=) c.*1937A>G (n.*1937A>G) c.222A>G (p.Ala74=) c.945A>G (p.Ala315=) c.6513A>G (p.Ala2171=) n.6904A>G c.6375A>G (p.Ala2125=) c.4176A>G (p.Ala1392=) n.6695A>G | dbSNP |
| 1 | g.235759340T>G | CA424025378 | LYST | c.1188A>C (p.Ala396=) c.*1937A>C (n.*1937A>C) c.222A>C (p.Ala74=) c.945A>C (p.Ala315=) c.6513A>C (p.Ala2171=) n.6904A>C c.6375A>C (p.Ala2125=) c.4176A>C (p.Ala1392=) n.6695A>C | |
| 1 | g.235759340T= | CA2486632358 | LYST | c.1188A= (p.Ala396=) c.*1937A= (n.*1937A=) c.222A= (p.Ala74=) c.945A= (p.Ala315=) c.6513A= (p.Ala2171=) n.6904A= c.6375A= (p.Ala2125=) c.4176A= (p.Ala1392=) n.6695A= | |
| 1 | g.235759341G>A | CA344941351 | LYST | c.1187C>T (p.Ala396Val) c.*1936C>T (n.*1936C>T) c.221C>T (p.Ala74Val) c.944C>T (p.Ala315Val) c.6512C>T (p.Ala2171Val) n.6903C>T c.6374C>T (p.Ala2125Val) c.4175C>T (p.Ala1392Val) n.6694C>T | |
| 1 | g.235759341G>C | CA344941353 | LYST | c.1187C>G (p.Ala396Gly) c.*1936C>G (n.*1936C>G) c.221C>G (p.Ala74Gly) c.944C>G (p.Ala315Gly) c.6512C>G (p.Ala2171Gly) n.6903C>G c.6374C>G (p.Ala2125Gly) c.4175C>G (p.Ala1392Gly) n.6694C>G | |
| 1 | g.235759341G= | CA2486632359 | LYST | c.1187C= (p.Ala396=) c.*1936C= (n.*1936C=) c.221C= (p.Ala74=) c.944C= (p.Ala315=) c.6512C= (p.Ala2171=) n.6903C= c.6374C= (p.Ala2125=) c.4175C= (p.Ala1392=) n.6694C= | |
| 1 | g.235759341G>T | CA344941361 | LYST | c.1187C>A (p.Ala396Glu) c.*1936C>A (n.*1936C>A) c.221C>A (p.Ala74Glu) c.944C>A (p.Ala315Glu) c.6512C>A (p.Ala2171Glu) n.6903C>A c.6374C>A (p.Ala2125Glu) c.4175C>A (p.Ala1392Glu) n.6694C>A | |
| 1 | g.235759342C>A | CA344941364 | LYST | c.1186G>T (p.Ala396Ser) c.*1935G>T (n.*1935G>T) c.220G>T (p.Ala74Ser) c.943G>T (p.Ala315Ser) c.6511G>T (p.Ala2171Ser) n.6902G>T c.6373G>T (p.Ala2125Ser) c.4174G>T (p.Ala1392Ser) n.6693G>T | dbSNP gnomAD v4 |
| 1 | g.235759342C= | CA2486632361 | LYST | c.1186G= (p.Ala396=) c.*1935G= (n.*1935G=) c.220G= (p.Ala74=) c.943G= (p.Ala315=) c.6511G= (p.Ala2171=) n.6902G= c.6373G= (p.Ala2125=) c.4174G= (p.Ala1392=) n.6693G= | |
| 1 | g.235759342C>G | CA344941368 | LYST | c.1186G>C (p.Ala396Pro) c.*1935G>C (n.*1935G>C) c.220G>C (p.Ala74Pro) c.943G>C (p.Ala315Pro) c.6511G>C (p.Ala2171Pro) n.6902G>C c.6373G>C (p.Ala2125Pro) c.4174G>C (p.Ala1392Pro) n.6693G>C | |
| 1 | g.235759342C>T | CA344941367 | LYST | c.1186G>A (p.Ala396Thr) c.*1935G>A (n.*1935G>A) c.220G>A (p.Ala74Thr) c.943G>A (p.Ala315Thr) c.6511G>A (p.Ala2171Thr) n.6902G>A c.6373G>A (p.Ala2125Thr) c.4174G>A (p.Ala1392Thr) n.6693G>A | |
| 1 | g.235759344_235759349dup | CA2486632360 | LYST | c.1181_1186dup (p.Ser395_Ala396insGluSer) c.*1930_*1935dup (n.*1930_*1935dup) c.215_220dup (p.Ser73_Ala74insGluSer) c.938_943dup (p.Ser314_Ala315insGluSer) c.6506_6511dup (p.Ser2170_Ala2171insGluSer) n.6897_6902dup c.6368_6373dup (p.Ser2124_Ala2125insGluSer) c.4169_4174dup (p.Ser1391_Ala1392insGluSer) n.6688_6693dup | dbSNP |
| 1 | g.235759343A>C | CA424025393 | LYST | c.1185T>G (p.Ser395=) c.*1934T>G (n.*1934T>G) c.219T>G (p.Ser73=) c.942T>G (p.Ser314=) c.6510T>G (p.Ser2170=) n.6901T>G c.6372T>G (p.Ser2124=) c.4173T>G (p.Ser1391=) n.6692T>G | |
| 1 | g.235759343A>G | CA424025395 | LYST | c.1185T>C (p.Ser395=) c.*1934T>C (n.*1934T>C) c.219T>C (p.Ser73=) c.942T>C (p.Ser314=) c.6510T>C (p.Ser2170=) n.6901T>C c.6372T>C (p.Ser2124=) c.4173T>C (p.Ser1391=) n.6692T>C | |
| 1 | g.235759343A>T | CA424025397 | LYST | c.1185T>A (p.Ser395=) c.*1934T>A (n.*1934T>A) c.219T>A (p.Ser73=) c.942T>A (p.Ser314=) c.6510T>A (p.Ser2170=) n.6901T>A c.6372T>A (p.Ser2124=) c.4173T>A (p.Ser1391=) n.6692T>A | |
| 1 | g.235759344G>A | CA344941371 | LYST | c.1184C>T (p.Ser395Phe) c.*1933C>T (n.*1933C>T) c.218C>T (p.Ser73Phe) c.941C>T (p.Ser314Phe) c.6509C>T (p.Ser2170Phe) n.6900C>T c.6371C>T (p.Ser2124Phe) c.4172C>T (p.Ser1391Phe) n.6691C>T | |
| 1 | g.235759344G>C | CA344941372 | LYST | c.1184C>G (p.Ser395Cys) c.*1933C>G (n.*1933C>G) c.218C>G (p.Ser73Cys) c.941C>G (p.Ser314Cys) c.6509C>G (p.Ser2170Cys) n.6900C>G c.6371C>G (p.Ser2124Cys) c.4172C>G (p.Ser1391Cys) n.6691C>G | |
| 1 | g.235759344G>T | CA344941375 | LYST | c.1184C>A (p.Ser395Tyr) c.*1933C>A (n.*1933C>A) c.218C>A (p.Ser73Tyr) c.941C>A (p.Ser314Tyr) c.6509C>A (p.Ser2170Tyr) n.6900C>A c.6371C>A (p.Ser2124Tyr) c.4172C>A (p.Ser1391Tyr) n.6691C>A | |
| 1 | g.235759345A= | CA2486632362 | LYST | c.1183T= (p.Ser395=) c.*1932T= (n.*1932T=) c.217T= (p.Ser73=) c.940T= (p.Ser314=) c.6508T= (p.Ser2170=) n.6899T= c.6370T= (p.Ser2124=) c.4171T= (p.Ser1391=) n.6690T= | |
| 1 | g.235759345A>C | CA344941378 | LYST | c.1183T>G (p.Ser395Ala) c.*1932T>G (n.*1932T>G) c.217T>G (p.Ser73Ala) c.940T>G (p.Ser314Ala) c.6508T>G (p.Ser2170Ala) n.6899T>G c.6370T>G (p.Ser2124Ala) c.4171T>G (p.Ser1391Ala) n.6690T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759345A>G | CA344941399 | LYST | c.1183T>C (p.Ser395Pro) c.*1932T>C (n.*1932T>C) c.217T>C (p.Ser73Pro) c.940T>C (p.Ser314Pro) c.6508T>C (p.Ser2170Pro) n.6899T>C c.6370T>C (p.Ser2124Pro) c.4171T>C (p.Ser1391Pro) n.6690T>C | |
| 1 | g.235759345A>T | CA344941402 | LYST | c.1183T>A (p.Ser395Thr) c.*1932T>A (n.*1932T>A) c.217T>A (p.Ser73Thr) c.940T>A (p.Ser314Thr) c.6508T>A (p.Ser2170Thr) n.6899T>A c.6370T>A (p.Ser2124Thr) c.4171T>A (p.Ser1391Thr) n.6690T>A | |
| 1 | g.235759346C>A | CA344941403 | LYST | c.1182G>T (p.Glu394Asp) c.*1931G>T (n.*1931G>T) c.216G>T (p.Glu72Asp) c.939G>T (p.Glu313Asp) c.6507G>T (p.Glu2169Asp) n.6898G>T c.6369G>T (p.Glu2123Asp) c.4170G>T (p.Glu1390Asp) n.6689G>T | |
| 1 | g.235759346C>G | CA344941404 | LYST | c.1182G>C (p.Glu394Asp) c.*1931G>C (n.*1931G>C) c.216G>C (p.Glu72Asp) c.939G>C (p.Glu313Asp) c.6507G>C (p.Glu2169Asp) n.6898G>C c.6369G>C (p.Glu2123Asp) c.4170G>C (p.Glu1390Asp) n.6689G>C | |
| 1 | g.235759346C>T | CA424025412 | LYST | c.1182G>A (p.Glu394=) c.*1931G>A (n.*1931G>A) c.216G>A (p.Glu72=) c.939G>A (p.Glu313=) c.6507G>A (p.Glu2169=) n.6898G>A c.6369G>A (p.Glu2123=) c.4170G>A (p.Glu1390=) n.6689G>A | |
| 1 | g.235759347T>A | CA344941405 | LYST | c.1181A>T (p.Glu394Val) c.*1930A>T (n.*1930A>T) c.215A>T (p.Glu72Val) c.938A>T (p.Glu313Val) c.6506A>T (p.Glu2169Val) n.6897A>T c.6368A>T (p.Glu2123Val) c.4169A>T (p.Glu1390Val) n.6688A>T | |
| 1 | g.235759347T>C | CA344941406 | LYST | c.1181A>G (p.Glu394Gly) c.*1930A>G (n.*1930A>G) c.215A>G (p.Glu72Gly) c.938A>G (p.Glu313Gly) c.6506A>G (p.Glu2169Gly) n.6897A>G c.6368A>G (p.Glu2123Gly) c.4169A>G (p.Glu1390Gly) n.6688A>G | |
| 1 | g.235759347T>G | CA344941407 | LYST | c.1181A>C (p.Glu394Ala) c.*1930A>C (n.*1930A>C) c.215A>C (p.Glu72Ala) c.938A>C (p.Glu313Ala) c.6506A>C (p.Glu2169Ala) n.6897A>C c.6368A>C (p.Glu2123Ala) c.4169A>C (p.Glu1390Ala) n.6688A>C | |
| 1 | g.235759348C>A | CA344941408 | LYST | c.1180G>T (p.Glu394Ter) c.*1929G>T (n.*1929G>T) c.214G>T (p.Glu72Ter) c.937G>T (p.Glu313Ter) c.6505G>T (p.Glu2169Ter) n.6896G>T c.6367G>T (p.Glu2123Ter) c.4168G>T (p.Glu1390Ter) n.6687G>T | |
| 1 | g.235759348C= | CA2486632363 | LYST | c.1180G= (p.Glu394=) c.*1929G= (n.*1929G=) c.214G= (p.Glu72=) c.937G= (p.Glu313=) c.6505G= (p.Glu2169=) n.6896G= c.6367G= (p.Glu2123=) c.4168G= (p.Glu1390=) n.6687G= | |
| 1 | g.235759348C>G | CA344941415 | LYST | c.1180G>C (p.Glu394Gln) c.*1929G>C (n.*1929G>C) c.214G>C (p.Glu72Gln) c.937G>C (p.Glu313Gln) c.6505G>C (p.Glu2169Gln) n.6896G>C c.6367G>C (p.Glu2123Gln) c.4168G>C (p.Glu1390Gln) n.6687G>C | |
| 1 | g.235759348C>T | CA344941409 | LYST | c.1180G>A (p.Glu394Lys) c.*1929G>A (n.*1929G>A) c.214G>A (p.Glu72Lys) c.937G>A (p.Glu313Lys) c.6505G>A (p.Glu2169Lys) n.6896G>A c.6367G>A (p.Glu2123Lys) c.4168G>A (p.Glu1390Lys) n.6687G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.235759349A>C | CA344941433 | LYST | c.1179T>G (p.Cys393Trp) c.*1928T>G (n.*1928T>G) c.213T>G (p.Cys71Trp) c.936T>G (p.Cys312Trp) c.6504T>G (p.Cys2168Trp) n.6895T>G c.6366T>G (p.Cys2122Trp) c.4167T>G (p.Cys1389Trp) n.6686T>G | |
| 1 | g.235759349A>G | CA424025427 | LYST | c.1179T>C (p.Cys393=) c.*1928T>C (n.*1928T>C) c.213T>C (p.Cys71=) c.936T>C (p.Cys312=) c.6504T>C (p.Cys2168=) n.6895T>C c.6366T>C (p.Cys2122=) c.4167T>C (p.Cys1389=) n.6686T>C | |
| 1 | g.235759349A>T | CA344941437 | LYST | c.1179T>A (p.Cys393Ter) c.*1928T>A (n.*1928T>A) c.213T>A (p.Cys71Ter) c.936T>A (p.Cys312Ter) c.6504T>A (p.Cys2168Ter) n.6895T>A c.6366T>A (p.Cys2122Ter) c.4167T>A (p.Cys1389Ter) n.6686T>A | |
| 1 | g.235759350C>A | CA344941438 | LYST | c.1178G>T (p.Cys393Phe) c.*1927G>T (n.*1927G>T) c.212G>T (p.Cys71Phe) c.935G>T (p.Cys312Phe) c.6503G>T (p.Cys2168Phe) n.6894G>T c.6365G>T (p.Cys2122Phe) c.4166G>T (p.Cys1389Phe) n.6685G>T | |
| 1 | g.235759350C= | CA2486632364 | LYST | c.1178G= (p.Cys393=) c.*1927G= (n.*1927G=) c.212G= (p.Cys71=) c.935G= (p.Cys312=) c.6503G= (p.Cys2168=) n.6894G= c.6365G= (p.Cys2122=) c.4166G= (p.Cys1389=) n.6685G= | |
| 1 | g.235759350C>G | CA344941439 | LYST | c.1178G>C (p.Cys393Ser) c.*1927G>C (n.*1927G>C) c.212G>C (p.Cys71Ser) c.935G>C (p.Cys312Ser) c.6503G>C (p.Cys2168Ser) n.6894G>C c.6365G>C (p.Cys2122Ser) c.4166G>C (p.Cys1389Ser) n.6685G>C | dbSNP |
| 1 | g.235759350C>T | CA344941440 | LYST | c.1178G>A (p.Cys393Tyr) c.*1927G>A (n.*1927G>A) c.212G>A (p.Cys71Tyr) c.935G>A (p.Cys312Tyr) c.6503G>A (p.Cys2168Tyr) n.6894G>A c.6365G>A (p.Cys2122Tyr) c.4166G>A (p.Cys1389Tyr) n.6685G>A | |
| 1 | g.235759351A>C | CA344941442 | LYST | c.1177T>G (p.Cys393Gly) c.*1926T>G (n.*1926T>G) c.211T>G (p.Cys71Gly) c.934T>G (p.Cys312Gly) c.6502T>G (p.Cys2168Gly) n.6893T>G c.6364T>G (p.Cys2122Gly) c.4165T>G (p.Cys1389Gly) n.6684T>G | |
| 1 | g.235759351A>G | CA344941444 | LYST | c.1177T>C (p.Cys393Arg) c.*1926T>C (n.*1926T>C) c.211T>C (p.Cys71Arg) c.934T>C (p.Cys312Arg) c.6502T>C (p.Cys2168Arg) n.6893T>C c.6364T>C (p.Cys2122Arg) c.4165T>C (p.Cys1389Arg) n.6684T>C | |
| 1 | g.235759351A>T | CA344941446 | LYST | c.1177T>A (p.Cys393Ser) c.*1926T>A (n.*1926T>A) c.211T>A (p.Cys71Ser) c.934T>A (p.Cys312Ser) c.6502T>A (p.Cys2168Ser) n.6893T>A c.6364T>A (p.Cys2122Ser) c.4165T>A (p.Cys1389Ser) n.6684T>A | |
| 1 | g.235759352G>A | CA424025444 | LYST | c.1176C>T (p.Ser392=) c.*1925C>T (n.*1925C>T) c.210C>T (p.Ser70=) c.933C>T (p.Ser311=) c.6501C>T (p.Ser2167=) n.6892C>T c.6363C>T (p.Ser2121=) c.4164C>T (p.Ser1388=) n.6683C>T | |
| 1 | g.235759352G>C | CA1466357 | LYST | c.1176C>G (p.Ser392Arg) c.*1925C>G (n.*1925C>G) c.210C>G (p.Ser70Arg) c.933C>G (p.Ser311Arg) c.6501C>G (p.Ser2167Arg) n.6892C>G c.6363C>G (p.Ser2121Arg) c.4164C>G (p.Ser1388Arg) n.6683C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759352G= | CA2486632365 | LYST | c.1176C= (p.Ser392=) c.*1925C= (n.*1925C=) c.210C= (p.Ser70=) c.933C= (p.Ser311=) c.6501C= (p.Ser2167=) n.6892C= c.6363C= (p.Ser2121=) c.4164C= (p.Ser1388=) n.6683C= | |
| 1 | g.235759352G>T | CA344941452 | LYST | c.1176C>A (p.Ser392Arg) c.*1925C>A (n.*1925C>A) c.210C>A (p.Ser70Arg) c.933C>A (p.Ser311Arg) c.6501C>A (p.Ser2167Arg) n.6892C>A c.6363C>A (p.Ser2121Arg) c.4164C>A (p.Ser1388Arg) n.6683C>A | |
| 1 | g.235759353C>A | CA344941455 | LYST | c.1175G>T (p.Ser392Ile) c.*1924G>T (n.*1924G>T) c.209G>T (p.Ser70Ile) c.932G>T (p.Ser311Ile) c.6500G>T (p.Ser2167Ile) n.6891G>T c.6362G>T (p.Ser2121Ile) c.4163G>T (p.Ser1388Ile) n.6682G>T | |
| 1 | g.235759353C>G | CA344941457 | LYST | c.1175G>C (p.Ser392Thr) c.*1924G>C (n.*1924G>C) c.209G>C (p.Ser70Thr) c.932G>C (p.Ser311Thr) c.6500G>C (p.Ser2167Thr) n.6891G>C c.6362G>C (p.Ser2121Thr) c.4163G>C (p.Ser1388Thr) n.6682G>C | |
| 1 | g.235759353C>T | CA344941458 | LYST | c.1175G>A (p.Ser392Asn) c.*1924G>A (n.*1924G>A) c.209G>A (p.Ser70Asn) c.932G>A (p.Ser311Asn) c.6500G>A (p.Ser2167Asn) n.6891G>A c.6362G>A (p.Ser2121Asn) c.4163G>A (p.Ser1388Asn) n.6682G>A | |
| 1 | g.235759354T>A | CA344941467 | LYST | c.1174A>T (p.Ser392Cys) c.*1923A>T (n.*1923A>T) c.208A>T (p.Ser70Cys) c.931A>T (p.Ser311Cys) c.6499A>T (p.Ser2167Cys) n.6890A>T c.6361A>T (p.Ser2121Cys) c.4162A>T (p.Ser1388Cys) n.6681A>T | |
| 1 | g.235759354T>C | CA344941459 | LYST | c.1174A>G (p.Ser392Gly) c.*1923A>G (n.*1923A>G) c.208A>G (p.Ser70Gly) c.931A>G (p.Ser311Gly) c.6499A>G (p.Ser2167Gly) n.6890A>G c.6361A>G (p.Ser2121Gly) c.4162A>G (p.Ser1388Gly) n.6681A>G | |
| 1 | g.235759354T>G | CA344941460 | LYST | c.1174A>C (p.Ser392Arg) c.*1923A>C (n.*1923A>C) c.208A>C (p.Ser70Arg) c.931A>C (p.Ser311Arg) c.6499A>C (p.Ser2167Arg) n.6890A>C c.6361A>C (p.Ser2121Arg) c.4162A>C (p.Ser1388Arg) n.6681A>C | |
| 1 | g.235759355A>C | CA344941469 | LYST | c.1173T>G (p.Ser391Arg) c.*1922T>G (n.*1922T>G) c.207T>G (p.Ser69Arg) c.930T>G (p.Ser310Arg) c.6498T>G (p.Ser2166Arg) n.6889T>G c.6360T>G (p.Ser2120Arg) c.4161T>G (p.Ser1387Arg) n.6680T>G | |
| 1 | g.235759355A>G | CA424025459 | LYST | c.1173T>C (p.Ser391=) c.*1922T>C (n.*1922T>C) c.207T>C (p.Ser69=) c.930T>C (p.Ser310=) c.6498T>C (p.Ser2166=) n.6889T>C c.6360T>C (p.Ser2120=) c.4161T>C (p.Ser1387=) n.6680T>C | ClinVar |
| 1 | g.235759355A>T | CA344941472 | LYST | c.1173T>A (p.Ser391Arg) c.*1922T>A (n.*1922T>A) c.207T>A (p.Ser69Arg) c.930T>A (p.Ser310Arg) c.6498T>A (p.Ser2166Arg) n.6889T>A c.6360T>A (p.Ser2120Arg) c.4161T>A (p.Ser1387Arg) n.6680T>A | |
| 1 | g.235759356C>A | CA344941474 | LYST | c.1172G>T (p.Ser391Ile) c.*1921G>T (n.*1921G>T) c.206G>T (p.Ser69Ile) c.929G>T (p.Ser310Ile) c.6497G>T (p.Ser2166Ile) n.6888G>T c.6359G>T (p.Ser2120Ile) c.4160G>T (p.Ser1387Ile) n.6679G>T | |
| 1 | g.235759356C= | CA2486632366 | LYST | c.1172G= (p.Ser391=) c.*1921G= (n.*1921G=) c.206G= (p.Ser69=) c.929G= (p.Ser310=) c.6497G= (p.Ser2166=) n.6888G= c.6359G= (p.Ser2120=) c.4160G= (p.Ser1387=) n.6679G= | |
| 1 | g.235759356C>G | CA1466358 | LYST | c.1172G>C (p.Ser391Thr) c.*1921G>C (n.*1921G>C) c.206G>C (p.Ser69Thr) c.929G>C (p.Ser310Thr) c.6497G>C (p.Ser2166Thr) n.6888G>C c.6359G>C (p.Ser2120Thr) c.4160G>C (p.Ser1387Thr) n.6679G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759356C>T | CA344941485 | LYST | c.1172G>A (p.Ser391Asn) c.*1921G>A (n.*1921G>A) c.206G>A (p.Ser69Asn) c.929G>A (p.Ser310Asn) c.6497G>A (p.Ser2166Asn) n.6888G>A c.6359G>A (p.Ser2120Asn) c.4160G>A (p.Ser1387Asn) n.6679G>A | |
| 1 | g.235759357T>A | CA344941490 | LYST | c.1171A>T (p.Ser391Cys) c.*1920A>T (n.*1920A>T) c.205A>T (p.Ser69Cys) c.928A>T (p.Ser310Cys) c.6496A>T (p.Ser2166Cys) n.6887A>T c.6358A>T (p.Ser2120Cys) c.4159A>T (p.Ser1387Cys) n.6678A>T | |
| 1 | g.235759357T>C | CA1466359 | LYST | c.1171A>G (p.Ser391Gly) c.*1920A>G (n.*1920A>G) c.205A>G (p.Ser69Gly) c.928A>G (p.Ser310Gly) c.6496A>G (p.Ser2166Gly) n.6887A>G c.6358A>G (p.Ser2120Gly) c.4159A>G (p.Ser1387Gly) n.6678A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759357T>G | CA1466360 | LYST | c.1171A>C (p.Ser391Arg) c.*1920A>C (n.*1920A>C) c.205A>C (p.Ser69Arg) c.928A>C (p.Ser310Arg) c.6496A>C (p.Ser2166Arg) n.6887A>C c.6358A>C (p.Ser2120Arg) c.4159A>C (p.Ser1387Arg) n.6678A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759357T= | CA2486632367 | LYST | c.1171A= (p.Ser391=) c.*1920A= (n.*1920A=) c.205A= (p.Ser69=) c.928A= (p.Ser310=) c.6496A= (p.Ser2166=) n.6887A= c.6358A= (p.Ser2120=) c.4159A= (p.Ser1387=) n.6678A= | |
| 1 | g.235759358G>A | CA424025473 | LYST | c.1170C>T (p.Ile390=) c.*1919C>T (n.*1919C>T) c.204C>T (p.Ile68=) c.927C>T (p.Ile309=) c.6495C>T (p.Ile2165=) n.6886C>T c.6357C>T (p.Ile2119=) c.4158C>T (p.Ile1386=) n.6677C>T | |
| 1 | g.235759358G>C | CA344941497 | LYST | c.1170C>G (p.Ile390Met) c.*1919C>G (n.*1919C>G) c.204C>G (p.Ile68Met) c.927C>G (p.Ile309Met) c.6495C>G (p.Ile2165Met) n.6886C>G c.6357C>G (p.Ile2119Met) c.4158C>G (p.Ile1386Met) n.6677C>G | |
| 1 | g.235759358G>T | CA424025476 | LYST | c.1170C>A (p.Ile390=) c.*1919C>A (n.*1919C>A) c.204C>A (p.Ile68=) c.927C>A (p.Ile309=) c.6495C>A (p.Ile2165=) n.6886C>A c.6357C>A (p.Ile2119=) c.4158C>A (p.Ile1386=) n.6677C>A | |
| 1 | g.235759359A>C | CA344941498 | LYST | c.1169T>G (p.Ile390Ser) c.*1918T>G (n.*1918T>G) c.203T>G (p.Ile68Ser) c.926T>G (p.Ile309Ser) c.6494T>G (p.Ile2165Ser) n.6885T>G c.6356T>G (p.Ile2119Ser) c.4157T>G (p.Ile1386Ser) n.6676T>G | |
| 1 | g.235759359A>G | CA344941499 | LYST | c.1169T>C (p.Ile390Thr) c.*1918T>C (n.*1918T>C) c.203T>C (p.Ile68Thr) c.926T>C (p.Ile309Thr) c.6494T>C (p.Ile2165Thr) n.6885T>C c.6356T>C (p.Ile2119Thr) c.4157T>C (p.Ile1386Thr) n.6676T>C | ClinVar |
| 1 | g.235759359A>T | CA344941502 | LYST | c.1169T>A (p.Ile390Asn) c.*1918T>A (n.*1918T>A) c.203T>A (p.Ile68Asn) c.926T>A (p.Ile309Asn) c.6494T>A (p.Ile2165Asn) n.6885T>A c.6356T>A (p.Ile2119Asn) c.4157T>A (p.Ile1386Asn) n.6676T>A | |
| 1 | g.235759360T>A | CA344941504 | LYST | c.1168A>T (p.Ile390Phe) c.*1917A>T (n.*1917A>T) c.202A>T (p.Ile68Phe) c.925A>T (p.Ile309Phe) c.6493A>T (p.Ile2165Phe) n.6884A>T c.6355A>T (p.Ile2119Phe) c.4156A>T (p.Ile1386Phe) n.6675A>T | |
| 1 | g.235759360T>C | CA1466361 | LYST | c.1168A>G (p.Ile390Val) c.*1917A>G (n.*1917A>G) c.202A>G (p.Ile68Val) c.925A>G (p.Ile309Val) c.6493A>G (p.Ile2165Val) n.6884A>G c.6355A>G (p.Ile2119Val) c.4156A>G (p.Ile1386Val) n.6675A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759360T>G | CA344941509 | LYST | c.1168A>C (p.Ile390Leu) c.*1917A>C (n.*1917A>C) c.202A>C (p.Ile68Leu) c.925A>C (p.Ile309Leu) c.6493A>C (p.Ile2165Leu) n.6884A>C c.6355A>C (p.Ile2119Leu) c.4156A>C (p.Ile1386Leu) n.6675A>C | |
| 1 | g.235759360T= | CA2486632368 | LYST | c.1168A= (p.Ile390=) c.*1917A= (n.*1917A=) c.202A= (p.Ile68=) c.925A= (p.Ile309=) c.6493A= (p.Ile2165=) n.6884A= c.6355A= (p.Ile2119=) c.4156A= (p.Ile1386=) n.6675A= | |
| 1 | g.235759361G>A | CA424026092 | LYST | c.1167C>T (p.Phe389=) c.*1916C>T (n.*1916C>T) c.201C>T (p.Phe67=) c.924C>T (p.Phe308=) c.6492C>T (p.Phe2164=) n.6883C>T c.6354C>T (p.Phe2118=) c.4155C>T (p.Phe1385=) n.6674C>T | |
| 1 | g.235759361G>C | CA344941522 | LYST | c.1167C>G (p.Phe389Leu) c.*1916C>G (n.*1916C>G) c.201C>G (p.Phe67Leu) c.924C>G (p.Phe308Leu) c.6492C>G (p.Phe2164Leu) n.6883C>G c.6354C>G (p.Phe2118Leu) c.4155C>G (p.Phe1385Leu) n.6674C>G | |
| 1 | g.235759361G>T | CA344941524 | LYST | c.1167C>A (p.Phe389Leu) c.*1916C>A (n.*1916C>A) c.201C>A (p.Phe67Leu) c.924C>A (p.Phe308Leu) c.6492C>A (p.Phe2164Leu) n.6883C>A c.6354C>A (p.Phe2118Leu) c.4155C>A (p.Phe1385Leu) n.6674C>A | |
| 1 | g.235759362_235759367dup | CA2651136913 | LYST | c.1162_1167dup (p.Phe389_Ile390insAlaPhe) c.*1911_*1916dup (n.*1911_*1916dup) c.196_201dup (p.Phe67_Ile68insAlaPhe) c.919_924dup (p.Phe308_Ile309insAlaPhe) c.6487_6492dup (p.Phe2164_Ile2165insAlaPhe) n.6878_6883dup c.6349_6354dup (p.Phe2118_Ile2119insAlaPhe) c.4150_4155dup (p.Phe1385_Ile1386insAlaPhe) n.6669_6674dup | gnomAD v4 |
| 1 | g.235759362A= | CA2486632369 | LYST | c.1166T= (p.Phe389=) c.*1915T= (n.*1915T=) c.200T= (p.Phe67=) c.923T= (p.Phe308=) c.6491T= (p.Phe2164=) n.6882T= c.6353T= (p.Phe2118=) c.4154T= (p.Phe1385=) n.6673T= | |
| 1 | g.235759362A>C | CA344941526 | LYST | c.1166T>G (p.Phe389Cys) c.*1915T>G (n.*1915T>G) c.200T>G (p.Phe67Cys) c.923T>G (p.Phe308Cys) c.6491T>G (p.Phe2164Cys) n.6882T>G c.6353T>G (p.Phe2118Cys) c.4154T>G (p.Phe1385Cys) n.6673T>G | |
| 1 | g.235759362A>G | CA344941539 | LYST | c.1166T>C (p.Phe389Ser) c.*1915T>C (n.*1915T>C) c.200T>C (p.Phe67Ser) c.923T>C (p.Phe308Ser) c.6491T>C (p.Phe2164Ser) n.6882T>C c.6353T>C (p.Phe2118Ser) c.4154T>C (p.Phe1385Ser) n.6673T>C | |
| 1 | g.235759362A>T | CA344941541 | LYST | c.1166T>A (p.Phe389Tyr) c.*1915T>A (n.*1915T>A) c.200T>A (p.Phe67Tyr) c.923T>A (p.Phe308Tyr) c.6491T>A (p.Phe2164Tyr) n.6882T>A c.6353T>A (p.Phe2118Tyr) c.4154T>A (p.Phe1385Tyr) n.6673T>A | dbSNP |
| 1 | g.235759363A>C | CA344941544 | LYST | c.1165T>G (p.Phe389Val) c.*1914T>G (n.*1914T>G) c.199T>G (p.Phe67Val) c.922T>G (p.Phe308Val) c.6490T>G (p.Phe2164Val) n.6881T>G c.6352T>G (p.Phe2118Val) c.4153T>G (p.Phe1385Val) n.6672T>G | |
| 1 | g.235759363A>G | CA344941551 | LYST | c.1165T>C (p.Phe389Leu) c.*1914T>C (n.*1914T>C) c.199T>C (p.Phe67Leu) c.922T>C (p.Phe308Leu) c.6490T>C (p.Phe2164Leu) n.6881T>C c.6352T>C (p.Phe2118Leu) c.4153T>C (p.Phe1385Leu) n.6672T>C | |
| 1 | g.235759363A>T | CA344941553 | LYST | c.1165T>A (p.Phe389Ile) c.*1914T>A (n.*1914T>A) c.199T>A (p.Phe67Ile) c.922T>A (p.Phe308Ile) c.6490T>A (p.Phe2164Ile) n.6881T>A c.6352T>A (p.Phe2118Ile) c.4153T>A (p.Phe1385Ile) n.6672T>A | |
| 1 | g.235759364T>A | CA424026105 | LYST | c.1164A>T (p.Ala388=) c.*1913A>T (n.*1913A>T) c.198A>T (p.Ala66=) c.921A>T (p.Ala307=) c.6489A>T (p.Ala2163=) n.6880A>T c.6351A>T (p.Ala2117=) c.4152A>T (p.Ala1384=) n.6671A>T | |
| 1 | g.235759364T>C | CA1466362 | LYST | c.1164A>G (p.Ala388=) c.*1913A>G (n.*1913A>G) c.198A>G (p.Ala66=) c.921A>G (p.Ala307=) c.6489A>G (p.Ala2163=) n.6880A>G c.6351A>G (p.Ala2117=) c.4152A>G (p.Ala1384=) n.6671A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235759364T>G | CA424026108 | LYST | c.1164A>C (p.Ala388=) c.*1913A>C (n.*1913A>C) c.198A>C (p.Ala66=) c.921A>C (p.Ala307=) c.6489A>C (p.Ala2163=) n.6880A>C c.6351A>C (p.Ala2117=) c.4152A>C (p.Ala1384=) n.6671A>C | |
| 1 | g.235759364T= | CA1142374346 | LYST | c.1164A= (p.Ala388=) c.*1913A= (n.*1913A=) c.198A= (p.Ala66=) c.921A= (p.Ala307=) c.6489A= (p.Ala2163=) n.6880A= c.6351A= (p.Ala2117=) c.4152A= (p.Ala1384=) n.6671A= | |
| 1 | g.235759365G>A | CA344941555 | LYST | c.1163C>T (p.Ala388Val) c.*1912C>T (n.*1912C>T) c.197C>T (p.Ala66Val) c.920C>T (p.Ala307Val) c.6488C>T (p.Ala2163Val) n.6879C>T c.6350C>T (p.Ala2117Val) c.4151C>T (p.Ala1384Val) n.6670C>T | |
| 1 | g.235759365G>C | CA344941556 | LYST | c.1163C>G (p.Ala388Gly) c.*1912C>G (n.*1912C>G) c.197C>G (p.Ala66Gly) c.920C>G (p.Ala307Gly) c.6488C>G (p.Ala2163Gly) n.6879C>G c.6350C>G (p.Ala2117Gly) c.4151C>G (p.Ala1384Gly) n.6670C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235759365G= | CA2486632370 | LYST | c.1163C= (p.Ala388=) c.*1912C= (n.*1912C=) c.197C= (p.Ala66=) c.920C= (p.Ala307=) c.6488C= (p.Ala2163=) n.6879C= c.6350C= (p.Ala2117=) c.4151C= (p.Ala1384=) n.6670C= | |
| 1 | g.235759365G>T | CA344941557 | LYST | c.1163C>A (p.Ala388Glu) c.*1912C>A (n.*1912C>A) c.197C>A (p.Ala66Glu) c.920C>A (p.Ala307Glu) c.6488C>A (p.Ala2163Glu) n.6879C>A c.6350C>A (p.Ala2117Glu) c.4151C>A (p.Ala1384Glu) n.6670C>A | |
| 1 | g.235759366C>A | CA344941571 | LYST | c.1162G>T (p.Ala388Ser) c.*1911G>T (n.*1911G>T) c.196G>T (p.Ala66Ser) c.919G>T (p.Ala307Ser) c.6487G>T (p.Ala2163Ser) n.6878G>T c.6349G>T (p.Ala2117Ser) c.4150G>T (p.Ala1384Ser) n.6669G>T | gnomAD v4 |
| 1 | g.235759366C= | CA1143488284 | LYST | c.1162G= (p.Ala388=) c.*1911G= (n.*1911G=) c.196G= (p.Ala66=) c.919G= (p.Ala307=) c.6487G= (p.Ala2163=) n.6878G= c.6349G= (p.Ala2117=) c.4150G= (p.Ala1384=) n.6669G= | |
| 1 | g.235759366C>G | CA344941560 | LYST | c.1162G>C (p.Ala388Pro) c.*1911G>C (n.*1911G>C) c.196G>C (p.Ala66Pro) c.919G>C (p.Ala307Pro) c.6487G>C (p.Ala2163Pro) n.6878G>C c.6349G>C (p.Ala2117Pro) c.4150G>C (p.Ala1384Pro) n.6669G>C | |
| 1 | g.235759366C>T | CA1466363 | LYST | c.1162G>A (p.Ala388Thr) c.*1911G>A (n.*1911G>A) c.196G>A (p.Ala66Thr) c.919G>A (p.Ala307Thr) c.6487G>A (p.Ala2163Thr) n.6878G>A c.6349G>A (p.Ala2117Thr) c.4150G>A (p.Ala1384Thr) n.6669G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235759367G>A | CA1466364 | LYST | c.1161C>T (p.Asp387=) c.*1910C>T (n.*1910C>T) c.195C>T (p.Asp65=) c.918C>T (p.Asp306=) c.6486C>T (p.Asp2162=) n.6877C>T c.6348C>T (p.Asp2116=) c.4149C>T (p.Asp1383=) n.6668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759367G>C | CA344941580 | LYST | c.1161C>G (p.Asp387Glu) c.*1910C>G (n.*1910C>G) c.195C>G (p.Asp65Glu) c.918C>G (p.Asp306Glu) c.6486C>G (p.Asp2162Glu) n.6877C>G c.6348C>G (p.Asp2116Glu) c.4149C>G (p.Asp1383Glu) n.6668C>G | |
| 1 | g.235759367G= | CA1143415521 | LYST | c.1161C= (p.Asp387=) c.*1910C= (n.*1910C=) c.195C= (p.Asp65=) c.918C= (p.Asp306=) c.6486C= (p.Asp2162=) n.6877C= c.6348C= (p.Asp2116=) c.4149C= (p.Asp1383=) n.6668C= | |
| 1 | g.235759367G>T | CA344941583 | LYST | c.1161C>A (p.Asp387Glu) c.*1910C>A (n.*1910C>A) c.195C>A (p.Asp65Glu) c.918C>A (p.Asp306Glu) c.6486C>A (p.Asp2162Glu) n.6877C>A c.6348C>A (p.Asp2116Glu) c.4149C>A (p.Asp1383Glu) n.6668C>A | |
| 1 | g.235759368T>A | CA344941586 | LYST | c.1160A>T (p.Asp387Val) c.*1909A>T (n.*1909A>T) c.194A>T (p.Asp65Val) c.917A>T (p.Asp306Val) c.6485A>T (p.Asp2162Val) n.6876A>T c.6347A>T (p.Asp2116Val) c.4148A>T (p.Asp1383Val) n.6667A>T | |
| 1 | g.235759368T>C | CA344941587 | LYST | c.1160A>G (p.Asp387Gly) c.*1909A>G (n.*1909A>G) c.194A>G (p.Asp65Gly) c.917A>G (p.Asp306Gly) c.6485A>G (p.Asp2162Gly) n.6876A>G c.6347A>G (p.Asp2116Gly) c.4148A>G (p.Asp1383Gly) n.6667A>G | |
| 1 | g.235759368T>G | CA344941589 | LYST | c.1160A>C (p.Asp387Ala) c.*1909A>C (n.*1909A>C) c.194A>C (p.Asp65Ala) c.917A>C (p.Asp306Ala) c.6485A>C (p.Asp2162Ala) n.6876A>C c.6347A>C (p.Asp2116Ala) c.4148A>C (p.Asp1383Ala) n.6667A>C | |
| 1 | g.235759369C>A | CA344941592 | LYST | c.1159G>T (p.Asp387Tyr) c.*1908G>T (n.*1908G>T) c.193G>T (p.Asp65Tyr) c.916G>T (p.Asp306Tyr) c.6484G>T (p.Asp2162Tyr) n.6875G>T c.6346G>T (p.Asp2116Tyr) c.4147G>T (p.Asp1383Tyr) n.6666G>T | |
| 1 | g.235759369C>G | CA344941595 | LYST | c.1159G>C (p.Asp387His) c.*1908G>C (n.*1908G>C) c.193G>C (p.Asp65His) c.916G>C (p.Asp306His) c.6484G>C (p.Asp2162His) n.6875G>C c.6346G>C (p.Asp2116His) c.4147G>C (p.Asp1383His) n.6666G>C | |
| 1 | g.235759369C>T | CA344941599 | LYST | c.1159G>A (p.Asp387Asn) c.*1908G>A (n.*1908G>A) c.193G>A (p.Asp65Asn) c.916G>A (p.Asp306Asn) c.6484G>A (p.Asp2162Asn) n.6875G>A c.6346G>A (p.Asp2116Asn) c.4147G>A (p.Asp1383Asn) n.6666G>A | gnomAD v4 |
| 1 | g.235759370C>A | CA344941601 | LYST | c.1158G>T (p.Glu386Asp) c.*1907G>T (n.*1907G>T) c.192G>T (p.Glu64Asp) c.915G>T (p.Glu305Asp) c.6483G>T (p.Glu2161Asp) n.6874G>T c.6345G>T (p.Glu2115Asp) c.4146G>T (p.Glu1382Asp) n.6665G>T | |
| 1 | g.235759370C>G | CA344941604 | LYST | c.1158G>C (p.Glu386Asp) c.*1907G>C (n.*1907G>C) c.192G>C (p.Glu64Asp) c.915G>C (p.Glu305Asp) c.6483G>C (p.Glu2161Asp) n.6874G>C c.6345G>C (p.Glu2115Asp) c.4146G>C (p.Glu1382Asp) n.6665G>C | |
| 1 | g.235759370C>T | CA424026141 | LYST | c.1158G>A (p.Glu386=) c.*1907G>A (n.*1907G>A) c.192G>A (p.Glu64=) c.915G>A (p.Glu305=) c.6483G>A (p.Glu2161=) n.6874G>A c.6345G>A (p.Glu2115=) c.4146G>A (p.Glu1382=) n.6665G>A | gnomAD v4 |
| 1 | g.235759371T>A | CA344941608 | LYST | c.1157A>T (p.Glu386Val) c.*1906A>T (n.*1906A>T) c.191A>T (p.Glu64Val) c.914A>T (p.Glu305Val) c.6482A>T (p.Glu2161Val) n.6873A>T c.6344A>T (p.Glu2115Val) c.4145A>T (p.Glu1382Val) n.6664A>T | gnomAD v4 |
| 1 | g.235759371T>C | CA344941612 | LYST | c.1157A>G (p.Glu386Gly) c.*1906A>G (n.*1906A>G) c.191A>G (p.Glu64Gly) c.914A>G (p.Glu305Gly) c.6482A>G (p.Glu2161Gly) n.6873A>G c.6344A>G (p.Glu2115Gly) c.4145A>G (p.Glu1382Gly) n.6664A>G | |
| 1 | g.235759371T>G | CA1466365 | LYST | c.1157A>C (p.Glu386Ala) c.*1906A>C (n.*1906A>C) c.191A>C (p.Glu64Ala) c.914A>C (p.Glu305Ala) c.6482A>C (p.Glu2161Ala) n.6873A>C c.6344A>C (p.Glu2115Ala) c.4145A>C (p.Glu1382Ala) n.6664A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235759371T= | CA1142198759 | LYST | c.1157A= (p.Glu386=) c.*1906A= (n.*1906A=) c.191A= (p.Glu64=) c.914A= (p.Glu305=) c.6482A= (p.Glu2161=) n.6873A= c.6344A= (p.Glu2115=) c.4145A= (p.Glu1382=) n.6664A= |