UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 1 | g.235766119A>G | CA423775952 | LYST | c.756T>C (p.Val252=) c.*1505T>C (n.*1505T>C) c.586T>C c.513T>C (p.Val171=) c.6081T>C (p.Val2027=) n.6512+120T>C c.5943T>C (p.Val1981=) c.3744T>C (p.Val1248=) c.5990T>C (p.Phe1997Ser) c.5852T>C (p.Phe1951Ser) n.6263T>C n.6172T>C | |
| 1 | g.235766119A>T | CA423775953 | LYST | c.756T>A (p.Val252=) c.*1505T>A (n.*1505T>A) c.586T>A c.513T>A (p.Val171=) c.6081T>A (p.Val2027=) n.6512+120T>A c.5943T>A (p.Val1981=) c.3744T>A (p.Val1248=) c.5990T>A (p.Phe1997Tyr) c.5852T>A (p.Phe1951Tyr) n.6263T>A n.6172T>A | |
| 1 | g.235766120A>C | CA344947004 | LYST | c.755T>G (p.Val252Gly) c.*1504T>G (n.*1504T>G) c.585T>G c.512T>G (p.Val171Gly) c.6080T>G (p.Val2027Gly) n.6512+119T>G c.5942T>G (p.Val1981Gly) c.3743T>G (p.Val1248Gly) c.5989T>G (p.Phe1997Val) c.5851T>G (p.Phe1951Val) n.6262T>G n.6171T>G | |
| 1 | g.235766120A>G | CA344947006 | LYST | c.755T>C (p.Val252Ala) c.*1504T>C (n.*1504T>C) c.585T>C c.512T>C (p.Val171Ala) c.6080T>C (p.Val2027Ala) n.6512+119T>C c.5942T>C (p.Val1981Ala) c.3743T>C (p.Val1248Ala) c.5989T>C (p.Phe1997Leu) c.5851T>C (p.Phe1951Leu) n.6262T>C n.6171T>C | |
| 1 | g.235766120A>T | CA344947007 | LYST | c.755T>A (p.Val252Asp) c.*1504T>A (n.*1504T>A) c.585T>A c.512T>A (p.Val171Asp) c.6080T>A (p.Val2027Asp) n.6512+119T>A c.5942T>A (p.Val1981Asp) c.3743T>A (p.Val1248Asp) c.5989T>A (p.Phe1997Ile) c.5851T>A (p.Phe1951Ile) n.6262T>A n.6171T>A | |
| 1 | g.235766121C>A | CA344947011 | LYST | c.754G>T (p.Val252Phe) c.*1503G>T (n.*1503G>T) c.584G>T c.511G>T (p.Val171Phe) c.6079G>T (p.Val2027Phe) n.6512+118G>T c.5941G>T (p.Val1981Phe) c.3742G>T (p.Val1248Phe) c.5988G>T (p.Thr1996=) c.5850G>T (p.Thr1950=) n.6261G>T n.6170G>T | |
| 1 | g.235766121C= | CA1143988894 | LYST | c.754G= (p.Val252=) c.*1503G= (n.*1503G=) c.584G= c.511G= (p.Val171=) c.6079G= (p.Val2027=) n.6512+118G= c.5941G= (p.Val1981=) c.3742G= (p.Val1248=) c.5988G= (p.Thr1996=) c.5850G= (p.Thr1950=) n.6261G= n.6170G= | |
| 1 | g.235766121C>G | CA1466465 | LYST | c.754G>C (p.Val252Leu) c.*1503G>C (n.*1503G>C) c.584G>C c.511G>C (p.Val171Leu) c.6079G>C (p.Val2027Leu) n.6512+118G>C c.5941G>C (p.Val1981Leu) c.3742G>C (p.Val1248Leu) c.5988G>C (p.Thr1996=) c.5850G>C (p.Thr1950=) n.6261G>C n.6170G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766121C>T | CA1466466 | LYST | c.754G>A (p.Val252Ile) c.*1503G>A (n.*1503G>A) c.584G>A c.511G>A (p.Val171Ile) c.6079G>A (p.Val2027Ile) n.6512+118G>A c.5941G>A (p.Val1981Ile) c.3742G>A (p.Val1248Ile) c.5988G>A (p.Thr1996=) c.5850G>A (p.Thr1950=) n.6261G>A n.6170G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766122G>A | CA1466467 | LYST | c.753C>T (p.Tyr251=) c.*1502C>T (n.*1502C>T) c.583C>T c.510C>T (p.Tyr170=) c.6078C>T (p.Tyr2026=) n.6512+117C>T c.5940C>T (p.Tyr1980=) c.3741C>T (p.Tyr1247=) c.5987C>T (p.Thr1996Met) c.5849C>T (p.Thr1950Met) n.6260C>T n.6169C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235766122G>C | CA39619459 | LYST | c.753C>G (p.Tyr251Ter) c.*1502C>G (n.*1502C>G) c.583C>G c.510C>G (p.Tyr170Ter) c.6078C>G (p.Tyr2026Ter) n.6512+117C>G c.5940C>G (p.Tyr1980Ter) c.3741C>G (p.Tyr1247Ter) c.5987C>G (p.Thr1996Arg) c.5849C>G (p.Thr1950Arg) n.6260C>G n.6169C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766122G= | CA1141188157 | LYST | c.753C= (p.Tyr251=) c.*1502C= (n.*1502C=) c.583C= c.510C= (p.Tyr170=) c.6078C= (p.Tyr2026=) n.6512+117C= c.5940C= (p.Tyr1980=) c.3741C= (p.Tyr1247=) c.5987C= (p.Thr1996=) c.5849C= (p.Thr1950=) n.6260C= n.6169C= | |
| 1 | g.235766122G>T | CA344865 | LYST | c.753C>A (p.Tyr251Ter) c.*1502C>A (n.*1502C>A) c.583C>A c.510C>A (p.Tyr170Ter) c.6078C>A (p.Tyr2026Ter) n.6512+117C>A c.5940C>A (p.Tyr1980Ter) c.3741C>A (p.Tyr1247Ter) c.5987C>A (p.Thr1996Lys) c.5849C>A (p.Thr1950Lys) n.6260C>A n.6169C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235766123T>A | CA344947019 | LYST | c.752A>T (p.Tyr251Phe) c.*1501A>T (n.*1501A>T) c.582A>T c.509A>T (p.Tyr170Phe) c.6077A>T (p.Tyr2026Phe) n.6512+116A>T c.5939A>T (p.Tyr1980Phe) c.3740A>T (p.Tyr1247Phe) c.5986A>T (p.Thr1996Ser) c.5848A>T (p.Thr1950Ser) n.6259A>T n.6168A>T | |
| 1 | g.235766123T>C | CA344947017 | LYST | c.752A>G (p.Tyr251Cys) c.*1501A>G (n.*1501A>G) c.582A>G c.509A>G (p.Tyr170Cys) c.6077A>G (p.Tyr2026Cys) n.6512+116A>G c.5939A>G (p.Tyr1980Cys) c.3740A>G (p.Tyr1247Cys) c.5986A>G (p.Thr1996Ala) c.5848A>G (p.Thr1950Ala) n.6259A>G n.6168A>G | |
| 1 | g.235766123T>G | CA344947015 | LYST | c.752A>C (p.Tyr251Ser) c.*1501A>C (n.*1501A>C) c.582A>C c.509A>C (p.Tyr170Ser) c.6077A>C (p.Tyr2026Ser) n.6512+116A>C c.5939A>C (p.Tyr1980Ser) c.3740A>C (p.Tyr1247Ser) c.5986A>C (p.Thr1996Pro) c.5848A>C (p.Thr1950Pro) n.6259A>C n.6168A>C | |
| 1 | g.235766123dup | CA1466468 | LYST | c.752dup (p.Tyr251Ter) c.*1501dup (n.*1501dup) c.582dup c.509dup (p.Tyr170Ter) c.6077dup (p.Tyr2026Ter) n.6512+116dup c.5939dup (p.Tyr1980Ter) c.3740dup (p.Tyr1247Ter) c.5986dup (p.Thr1996AsnfsTer?) c.5848dup (p.Thr1950AsnfsTer?) n.6259dup n.6168dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235766124A>C | CA344947023 | LYST | c.751T>G (p.Tyr251Asp) c.*1500T>G (n.*1500T>G) c.581T>G c.508T>G (p.Tyr170Asp) c.6076T>G (p.Tyr2026Asp) n.6512+115T>G c.5938T>G (p.Tyr1980Asp) c.3739T>G (p.Tyr1247Asp) c.5985T>G (p.Leu1995=) c.5847T>G (p.Leu1949=) n.6258T>G n.6167T>G | |
| 1 | g.235766124A>G | CA344947028 | LYST | c.751T>C (p.Tyr251His) c.*1500T>C (n.*1500T>C) c.581T>C c.508T>C (p.Tyr170His) c.6076T>C (p.Tyr2026His) n.6512+115T>C c.5938T>C (p.Tyr1980His) c.3739T>C (p.Tyr1247His) c.5985T>C (p.Leu1995=) c.5847T>C (p.Leu1949=) n.6258T>C n.6167T>C | |
| 1 | g.235766124A>T | CA344947031 | LYST | c.751T>A (p.Tyr251Asn) c.*1500T>A (n.*1500T>A) c.581T>A c.508T>A (p.Tyr170Asn) c.6076T>A (p.Tyr2026Asn) n.6512+115T>A c.5938T>A (p.Tyr1980Asn) c.3739T>A (p.Tyr1247Asn) c.5985T>A (p.Leu1995=) c.5847T>A (p.Leu1949=) n.6258T>A n.6167T>A | |
| 1 | g.235766125A>C | CA423775954 | LYST | c.750T>G (p.Thr250=) c.*1499T>G (n.*1499T>G) c.580T>G c.507T>G (p.Thr169=) c.6075T>G (p.Thr2025=) n.6512+114T>G c.5937T>G (p.Thr1979=) c.3738T>G (p.Thr1246=) c.5984T>G (p.Leu1995Arg) c.5846T>G (p.Leu1949Arg) n.6257T>G n.6166T>G |