| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235766104C>A | CA1466462 | LYST | c.771G>T (p.Thr257=) c.*1520G>T (n.*1520G>T) c.601G>T c.528G>T (p.Thr176=) c.6096G>T (p.Thr2032=) n.6512+135G>T c.5958G>T (p.Thr1986=) c.3759G>T (p.Thr1253=) c.6005G>T (p.Arg2002Leu) c.5867G>T (p.Arg1956Leu) n.6278G>T n.6187G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766104C= | CA1144100531 | LYST | c.771G= (p.Thr257=) c.*1520G= (n.*1520G=) c.601G= c.528G= (p.Thr176=) c.6096G= (p.Thr2032=) n.6512+135G= c.5958G= (p.Thr1986=) c.3759G= (p.Thr1253=) c.6005G= (p.Arg2002=) c.5867G= (p.Arg1956=) n.6278G= n.6187G= | |
| 1 | g.235766104C>G | CA423775944 | LYST | c.771G>C (p.Thr257=) c.*1520G>C (n.*1520G>C) c.601G>C c.528G>C (p.Thr176=) c.6096G>C (p.Thr2032=) n.6512+135G>C c.5958G>C (p.Thr1986=) c.3759G>C (p.Thr1253=) c.6005G>C (p.Arg2002Pro) c.5867G>C (p.Arg1956Pro) n.6278G>C n.6187G>C | gnomAD v4 |
| 1 | g.235766104C>T | CA1466461 | LYST | c.771G>A (p.Thr257=) c.*1520G>A (n.*1520G>A) c.601G>A c.528G>A (p.Thr176=) c.6096G>A (p.Thr2032=) n.6512+135G>A c.5958G>A (p.Thr1986=) c.3759G>A (p.Thr1253=) c.6005G>A (p.Arg2002Gln) c.5867G>A (p.Arg1956Gln) n.6278G>A n.6187G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235766104_235766105del | CA2651136399 | LYST | c.770_771del (p.Thr257LysfsTer?) c.*1519_*1520del (n.*1519_*1520del) c.600_601del c.527_528del (p.Thr176LysfsTer?) c.6095_6096del (p.Thr2032LysfsTer?) n.6512+134_6512+135del c.5957_5958del (p.Thr1986LysfsTer?) c.3758_3759del (p.Thr1253LysfsTer?) c.6004_6005del (p.Arg2002AsnfsTer?) c.5866_5867del (p.Arg1956AsnfsTer?) n.6277_6278del n.6186_6187del | gnomAD v4 |
| 1 | g.235766105G>A | CA1466463 | LYST | c.770C>T (p.Thr257Met) c.*1519C>T (n.*1519C>T) c.600C>T c.527C>T (p.Thr176Met) c.6095C>T (p.Thr2032Met) n.6512+134C>T c.5957C>T (p.Thr1986Met) c.3758C>T (p.Thr1253Met) c.6004C>T (p.Arg2002Ter) c.5866C>T (p.Arg1956Ter) n.6277C>T n.6186C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766105G>C | CA344946897 | LYST | c.770C>G (p.Thr257Arg) c.*1519C>G (n.*1519C>G) c.600C>G c.527C>G (p.Thr176Arg) c.6095C>G (p.Thr2032Arg) n.6512+134C>G c.5957C>G (p.Thr1986Arg) c.3758C>G (p.Thr1253Arg) c.6004C>G (p.Arg2002Gly) c.5866C>G (p.Arg1956Gly) n.6277C>G n.6186C>G | |
| 1 | g.235766105G= | CA1143577103 | LYST | c.770C= (p.Thr257=) c.*1519C= (n.*1519C=) c.600C= c.527C= (p.Thr176=) c.6095C= (p.Thr2032=) n.6512+134C= c.5957C= (p.Thr1986=) c.3758C= (p.Thr1253=) c.6004C= (p.Arg2002=) c.5866C= (p.Arg1956=) n.6277C= n.6186C= | |
| 1 | g.235766105G>T | CA344946904 | LYST | c.770C>A (p.Thr257Lys) c.*1519C>A (n.*1519C>A) c.600C>A c.527C>A (p.Thr176Lys) c.6095C>A (p.Thr2032Lys) n.6512+134C>A c.5957C>A (p.Thr1986Lys) c.3758C>A (p.Thr1253Lys) c.6004C>A (p.Arg2002=) c.5866C>A (p.Arg1956=) n.6277C>A n.6186C>A | |
| 1 | g.235766106T>A | CA344946906 | LYST | c.769A>T (p.Thr257Ser) c.*1518A>T (n.*1518A>T) c.599A>T c.526A>T (p.Thr176Ser) c.6094A>T (p.Thr2032Ser) n.6512+133A>T c.5956A>T (p.Thr1986Ser) c.3757A>T (p.Thr1253Ser) c.6003A>T (p.Pro2001=) c.5865A>T (p.Pro1955=) n.6276A>T n.6185A>T | |
| 1 | g.235766106T>C | CA344946908 | LYST | c.769A>G (p.Thr257Ala) c.*1518A>G (n.*1518A>G) c.599A>G c.526A>G (p.Thr176Ala) c.6094A>G (p.Thr2032Ala) n.6512+133A>G c.5956A>G (p.Thr1986Ala) c.3757A>G (p.Thr1253Ala) c.6003A>G (p.Pro2001=) c.5865A>G (p.Pro1955=) n.6276A>G n.6185A>G | gnomAD v4 |
| 1 | g.235766106T>G | CA344946911 | LYST | c.769A>C (p.Thr257Pro) c.*1518A>C (n.*1518A>C) c.599A>C c.526A>C (p.Thr176Pro) c.6094A>C (p.Thr2032Pro) n.6512+133A>C c.5956A>C (p.Thr1986Pro) c.3757A>C (p.Thr1253Pro) c.6003A>C (p.Pro2001=) c.5865A>C (p.Pro1955=) n.6276A>C n.6185A>C | |
| 1 | g.235766107G>A | CA423775945 | LYST | c.768C>T (p.Pro256=) c.*1517C>T (n.*1517C>T) c.598C>T c.525C>T (p.Pro175=) c.6093C>T (p.Pro2031=) n.6512+132C>T c.5955C>T (p.Pro1985=) c.3756C>T (p.Pro1252=) c.6002C>T (p.Pro2001Leu) c.5864C>T (p.Pro1955Leu) n.6275C>T n.6184C>T | |
| 1 | g.235766107G>C | CA423775946 | LYST | c.768C>G (p.Pro256=) c.*1517C>G (n.*1517C>G) c.598C>G c.525C>G (p.Pro175=) c.6093C>G (p.Pro2031=) n.6512+132C>G c.5955C>G (p.Pro1985=) c.3756C>G (p.Pro1252=) c.6002C>G (p.Pro2001Arg) c.5864C>G (p.Pro1955Arg) n.6275C>G n.6184C>G | |
| 1 | g.235766107G>T | CA423775947 | LYST | c.768C>A (p.Pro256=) c.*1517C>A (n.*1517C>A) c.598C>A c.525C>A (p.Pro175=) c.6093C>A (p.Pro2031=) n.6512+132C>A c.5955C>A (p.Pro1985=) c.3756C>A (p.Pro1252=) c.6002C>A (p.Pro2001Gln) c.5864C>A (p.Pro1955Gln) n.6275C>A n.6184C>A | gnomAD v4 |
| 1 | g.235766108G>A | CA344946919 | LYST | c.767C>T (p.Pro256Leu) c.*1516C>T (n.*1516C>T) c.597C>T c.524C>T (p.Pro175Leu) c.6092C>T (p.Pro2031Leu) n.6512+131C>T c.5954C>T (p.Pro1985Leu) c.3755C>T (p.Pro1252Leu) c.6001C>T (p.Pro2001Ser) c.5863C>T (p.Pro1955Ser) n.6274C>T n.6183C>T | |
| 1 | g.235766108G>C | CA344946914 | LYST | c.767C>G (p.Pro256Arg) c.*1516C>G (n.*1516C>G) c.597C>G c.524C>G (p.Pro175Arg) c.6092C>G (p.Pro2031Arg) n.6512+131C>G c.5954C>G (p.Pro1985Arg) c.3755C>G (p.Pro1252Arg) c.6001C>G (p.Pro2001Ala) c.5863C>G (p.Pro1955Ala) n.6274C>G n.6183C>G | |
| 1 | g.235766108G>T | CA344946915 | LYST | c.767C>A (p.Pro256His) c.*1516C>A (n.*1516C>A) c.597C>A c.524C>A (p.Pro175His) c.6092C>A (p.Pro2031His) n.6512+131C>A c.5954C>A (p.Pro1985His) c.3755C>A (p.Pro1252His) c.6001C>A (p.Pro2001Thr) c.5863C>A (p.Pro1955Thr) n.6274C>A n.6183C>A | |
| 1 | g.235766109G>A | CA344946922 | LYST | c.766C>T (p.Pro256Ser) c.*1515C>T (n.*1515C>T) c.596C>T c.523C>T (p.Pro175Ser) c.6091C>T (p.Pro2031Ser) n.6512+130C>T c.5953C>T (p.Pro1985Ser) c.3754C>T (p.Pro1252Ser) c.6000C>T (p.Ile2000=) c.5862C>T (p.Ile1954=) n.6273C>T n.6182C>T | COSMIC |
| 1 | g.235766109G>C | CA344946931 | LYST | c.766C>G (p.Pro256Ala) c.*1515C>G (n.*1515C>G) c.596C>G c.523C>G (p.Pro175Ala) c.6091C>G (p.Pro2031Ala) n.6512+130C>G c.5953C>G (p.Pro1985Ala) c.3754C>G (p.Pro1252Ala) c.6000C>G (p.Ile2000Met) c.5862C>G (p.Ile1954Met) n.6273C>G n.6182C>G | |
| 1 | g.235766109G>T | CA344946932 | LYST | c.766C>A (p.Pro256Thr) c.*1515C>A (n.*1515C>A) c.596C>A c.523C>A (p.Pro175Thr) c.6091C>A (p.Pro2031Thr) n.6512+130C>A c.5953C>A (p.Pro1985Thr) c.3754C>A (p.Pro1252Thr) c.6000C>A (p.Ile2000=) c.5862C>A (p.Ile1954=) n.6273C>A n.6182C>A | |
| 1 | g.235766110A>C | CA344946934 | LYST | c.765T>G (p.Asn255Lys) c.*1514T>G (n.*1514T>G) c.595T>G c.522T>G (p.Asn174Lys) c.6090T>G (p.Asn2030Lys) n.6512+129T>G c.5952T>G (p.Asn1984Lys) c.3753T>G (p.Asn1251Lys) c.5999T>G (p.Ile2000Ser) c.5861T>G (p.Ile1954Ser) n.6272T>G n.6181T>G | |
| 1 | g.235766110A>G | CA423775948 | LYST | c.765T>C (p.Asn255=) c.*1514T>C (n.*1514T>C) c.595T>C c.522T>C (p.Asn174=) c.6090T>C (p.Asn2030=) n.6512+129T>C c.5952T>C (p.Asn1984=) c.3753T>C (p.Asn1251=) c.5999T>C (p.Ile2000Thr) c.5861T>C (p.Ile1954Thr) n.6272T>C n.6181T>C | |
| 1 | g.235766110A>T | CA344946935 | LYST | c.765T>A (p.Asn255Lys) c.*1514T>A (n.*1514T>A) c.595T>A c.522T>A (p.Asn174Lys) c.6090T>A (p.Asn2030Lys) n.6512+129T>A c.5952T>A (p.Asn1984Lys) c.3753T>A (p.Asn1251Lys) c.5999T>A (p.Ile2000Asn) c.5861T>A (p.Ile1954Asn) n.6272T>A n.6181T>A | |
| 1 | g.235766111T>A | CA344946936 | LYST | c.764A>T (p.Asn255Ile) c.*1513A>T (n.*1513A>T) c.594A>T c.521A>T (p.Asn174Ile) c.6089A>T (p.Asn2030Ile) n.6512+128A>T c.5951A>T (p.Asn1984Ile) c.3752A>T (p.Asn1251Ile) c.5998A>T (p.Ile2000Phe) c.5860A>T (p.Ile1954Phe) n.6271A>T n.6180A>T | |
| 1 | g.235766111T>C | CA1466464 | LYST | c.764A>G (p.Asn255Ser) c.*1513A>G (n.*1513A>G) c.594A>G c.521A>G (p.Asn174Ser) c.6089A>G (p.Asn2030Ser) n.6512+128A>G c.5951A>G (p.Asn1984Ser) c.3752A>G (p.Asn1251Ser) c.5998A>G (p.Ile2000Val) c.5860A>G (p.Ile1954Val) n.6271A>G n.6180A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235766111T>G | CA344946937 | LYST | c.764A>C (p.Asn255Thr) c.*1513A>C (n.*1513A>C) c.594A>C c.521A>C (p.Asn174Thr) c.6089A>C (p.Asn2030Thr) n.6512+128A>C c.5951A>C (p.Asn1984Thr) c.3752A>C (p.Asn1251Thr) c.5998A>C (p.Ile2000Leu) c.5860A>C (p.Ile1954Leu) n.6271A>C n.6180A>C | |
| 1 | g.235766111T= | CA1143532463 | LYST | c.764A= (p.Asn255=) c.*1513A= (n.*1513A=) c.594A= c.521A= (p.Asn174=) c.6089A= (p.Asn2030=) n.6512+128A= c.5951A= (p.Asn1984=) c.3752A= (p.Asn1251=) c.5998A= (p.Ile2000=) c.5860A= (p.Ile1954=) n.6271A= n.6180A= | |
| 1 | g.235766112T>A | CA344946940 | LYST | c.763A>T (p.Asn255Tyr) c.*1512A>T (n.*1512A>T) c.593A>T c.520A>T (p.Asn174Tyr) c.6088A>T (p.Asn2030Tyr) n.6512+127A>T c.5950A>T (p.Asn1984Tyr) c.3751A>T (p.Asn1251Tyr) c.5997A>T (p.Thr1999=) c.5859A>T (p.Thr1953=) n.6270A>T n.6179A>T | gnomAD v4 |
| 1 | g.235766112T>C | CA344946941 | LYST | c.763A>G (p.Asn255Asp) c.*1512A>G (n.*1512A>G) c.593A>G c.520A>G (p.Asn174Asp) c.6088A>G (p.Asn2030Asp) n.6512+127A>G c.5950A>G (p.Asn1984Asp) c.3751A>G (p.Asn1251Asp) c.5997A>G (p.Thr1999=) c.5859A>G (p.Thr1953=) n.6270A>G n.6179A>G | |
| 1 | g.235766112T>G | CA344946949 | LYST | c.763A>C (p.Asn255His) c.*1512A>C (n.*1512A>C) c.593A>C c.520A>C (p.Asn174His) c.6088A>C (p.Asn2030His) n.6512+127A>C c.5950A>C (p.Asn1984His) c.3751A>C (p.Asn1251His) c.5997A>C (p.Thr1999=) c.5859A>C (p.Thr1953=) n.6270A>C n.6179A>C | |
| 1 | g.235766113G>A | CA423775949 | LYST | c.762C>T (p.His254=) c.*1511C>T (n.*1511C>T) c.592C>T c.519C>T (p.His173=) c.6087C>T (p.His2029=) n.6512+126C>T c.5949C>T (p.His1983=) c.3750C>T (p.His1250=) c.5996C>T (p.Thr1999Ile) c.5858C>T (p.Thr1953Ile) n.6269C>T n.6178C>T | ClinVar |
| 1 | g.235766113G>C | CA344946952 | LYST | c.762C>G (p.His254Gln) c.*1511C>G (n.*1511C>G) c.592C>G c.519C>G (p.His173Gln) c.6087C>G (p.His2029Gln) n.6512+126C>G c.5949C>G (p.His1983Gln) c.3750C>G (p.His1250Gln) c.5996C>G (p.Thr1999Arg) c.5858C>G (p.Thr1953Arg) n.6269C>G n.6178C>G | |
| 1 | g.235766113G>T | CA344946955 | LYST | c.762C>A (p.His254Gln) c.*1511C>A (n.*1511C>A) c.592C>A c.519C>A (p.His173Gln) c.6087C>A (p.His2029Gln) n.6512+126C>A c.5949C>A (p.His1983Gln) c.3750C>A (p.His1250Gln) c.5996C>A (p.Thr1999Lys) c.5858C>A (p.Thr1953Lys) n.6269C>A n.6178C>A | |
| 1 | g.235766114T>A | CA344946958 | LYST | c.761A>T (p.His254Leu) c.*1510A>T (n.*1510A>T) c.591A>T c.518A>T (p.His173Leu) c.6086A>T (p.His2029Leu) n.6512+125A>T c.5948A>T (p.His1983Leu) c.3749A>T (p.His1250Leu) c.5995A>T (p.Thr1999Ser) c.5857A>T (p.Thr1953Ser) n.6268A>T n.6177A>T | gnomAD v4 |
| 1 | g.235766114T>C | CA344946961 | LYST | c.761A>G (p.His254Arg) c.*1510A>G (n.*1510A>G) c.591A>G c.518A>G (p.His173Arg) c.6086A>G (p.His2029Arg) n.6512+125A>G c.5948A>G (p.His1983Arg) c.3749A>G (p.His1250Arg) c.5995A>G (p.Thr1999Ala) c.5857A>G (p.Thr1953Ala) n.6268A>G n.6177A>G | |
| 1 | g.235766114T>G | CA344946964 | LYST | c.761A>C (p.His254Pro) c.*1510A>C (n.*1510A>C) c.591A>C c.518A>C (p.His173Pro) c.6086A>C (p.His2029Pro) n.6512+125A>C c.5948A>C (p.His1983Pro) c.3749A>C (p.His1250Pro) c.5995A>C (p.Thr1999Pro) c.5857A>C (p.Thr1953Pro) n.6268A>C n.6177A>C | |
| 1 | g.235766115G>A | CA344946967 | LYST | c.760C>T (p.His254Tyr) c.*1509C>T (n.*1509C>T) c.590C>T c.517C>T (p.His173Tyr) c.6085C>T (p.His2029Tyr) n.6512+124C>T c.5947C>T (p.His1983Tyr) c.3748C>T (p.His1250Tyr) c.5994C>T (p.Val1998=) c.5856C>T (p.Val1952=) n.6267C>T n.6176C>T | |
| 1 | g.235766115G>C | CA344946970 | LYST | c.760C>G (p.His254Asp) c.*1509C>G (n.*1509C>G) c.590C>G c.517C>G (p.His173Asp) c.6085C>G (p.His2029Asp) n.6512+124C>G c.5947C>G (p.His1983Asp) c.3748C>G (p.His1250Asp) c.5994C>G (p.Val1998=) c.5856C>G (p.Val1952=) n.6267C>G n.6176C>G | gnomAD v4 |
| 1 | g.235766115G>T | CA344946973 | LYST | c.760C>A (p.His254Asn) c.*1509C>A (n.*1509C>A) c.590C>A c.517C>A (p.His173Asn) c.6085C>A (p.His2029Asn) n.6512+124C>A c.5947C>A (p.His1983Asn) c.3748C>A (p.His1250Asn) c.5994C>A (p.Val1998=) c.5856C>A (p.Val1952=) n.6267C>A n.6176C>A | |
| 1 | g.235766116A>C | CA344946980 | LYST | c.759T>G (p.Cys253Trp) c.*1508T>G (n.*1508T>G) c.589T>G c.516T>G (p.Cys172Trp) c.6084T>G (p.Cys2028Trp) n.6512+123T>G c.5946T>G (p.Cys1982Trp) c.3747T>G (p.Cys1249Trp) c.5993T>G (p.Val1998Gly) c.5855T>G (p.Val1952Gly) n.6266T>G n.6175T>G | |
| 1 | g.235766116A>G | CA423775950 | LYST | c.759T>C (p.Cys253=) c.*1508T>C (n.*1508T>C) c.589T>C c.516T>C (p.Cys172=) c.6084T>C (p.Cys2028=) n.6512+123T>C c.5946T>C (p.Cys1982=) c.3747T>C (p.Cys1249=) c.5993T>C (p.Val1998Ala) c.5855T>C (p.Val1952Ala) n.6266T>C n.6175T>C | |
| 1 | g.235766116A>T | CA344946983 | LYST | c.759T>A (p.Cys253Ter) c.*1508T>A (n.*1508T>A) c.589T>A c.516T>A (p.Cys172Ter) c.6084T>A (p.Cys2028Ter) n.6512+123T>A c.5946T>A (p.Cys1982Ter) c.3747T>A (p.Cys1249Ter) c.5993T>A (p.Val1998Asp) c.5855T>A (p.Val1952Asp) n.6266T>A n.6175T>A | |
| 1 | g.235766117C>A | CA344946985 | LYST | c.758G>T (p.Cys253Phe) c.*1507G>T (n.*1507G>T) c.588G>T c.515G>T (p.Cys172Phe) c.6083G>T (p.Cys2028Phe) n.6512+122G>T c.5945G>T (p.Cys1982Phe) c.3746G>T (p.Cys1249Phe) c.5992G>T (p.Val1998Phe) c.5854G>T (p.Val1952Phe) n.6265G>T n.6174G>T | |
| 1 | g.235766117C>G | CA344946990 | LYST | c.758G>C (p.Cys253Ser) c.*1507G>C (n.*1507G>C) c.588G>C c.515G>C (p.Cys172Ser) c.6083G>C (p.Cys2028Ser) n.6512+122G>C c.5945G>C (p.Cys1982Ser) c.3746G>C (p.Cys1249Ser) c.5992G>C (p.Val1998Leu) c.5854G>C (p.Val1952Leu) n.6265G>C n.6174G>C | |
| 1 | g.235766117C>T | CA344946988 | LYST | c.758G>A (p.Cys253Tyr) c.*1507G>A (n.*1507G>A) c.588G>A c.515G>A (p.Cys172Tyr) c.6083G>A (p.Cys2028Tyr) n.6512+122G>A c.5945G>A (p.Cys1982Tyr) c.3746G>A (p.Cys1249Tyr) c.5992G>A (p.Val1998Ile) c.5854G>A (p.Val1952Ile) n.6265G>A n.6174G>A | |
| 1 | g.235766118A>C | CA344946992 | LYST | c.757T>G (p.Cys253Gly) c.*1506T>G (n.*1506T>G) c.587T>G c.514T>G (p.Cys172Gly) c.6082T>G (p.Cys2028Gly) n.6512+121T>G c.5944T>G (p.Cys1982Gly) c.3745T>G (p.Cys1249Gly) c.5991T>G (p.Phe1997Leu) c.5853T>G (p.Phe1951Leu) n.6264T>G n.6173T>G | |
| 1 | g.235766118A>G | CA344946998 | LYST | c.757T>C (p.Cys253Arg) c.*1506T>C (n.*1506T>C) c.587T>C c.514T>C (p.Cys172Arg) c.6082T>C (p.Cys2028Arg) n.6512+121T>C c.5944T>C (p.Cys1982Arg) c.3745T>C (p.Cys1249Arg) c.5991T>C (p.Phe1997=) c.5853T>C (p.Phe1951=) n.6264T>C n.6173T>C | |
| 1 | g.235766118A>T | CA344946996 | LYST | c.757T>A (p.Cys253Ser) c.*1506T>A (n.*1506T>A) c.587T>A c.514T>A (p.Cys172Ser) c.6082T>A (p.Cys2028Ser) n.6512+121T>A c.5944T>A (p.Cys1982Ser) c.3745T>A (p.Cys1249Ser) c.5991T>A (p.Phe1997Leu) c.5853T>A (p.Phe1951Leu) n.6264T>A n.6173T>A | |
| 1 | g.235766119A>C | CA423775951 | LYST | c.756T>G (p.Val252=) c.*1505T>G (n.*1505T>G) c.586T>G c.513T>G (p.Val171=) c.6081T>G (p.Val2027=) n.6512+120T>G c.5943T>G (p.Val1981=) c.3744T>G (p.Val1248=) c.5990T>G (p.Phe1997Cys) c.5852T>G (p.Phe1951Cys) n.6263T>G n.6172T>G |