Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.24122801_24122804del | CA2664767974 | THRB | c.*83_*86del (n.*83_*86del) c.*2098_*2101del (n.*2098_*2101del) | gnomAD v4 |
3 | g.24122803_24122817del | CA2664767975 | THRB | c.*72_*86del (n.*72_*86del) c.*2087_*2101del (n.*2087_*2101del) | gnomAD v4 |
3 | g.24122801_24122805delinsGAAAC | CA1351822075 | THRB | c.*79_*83delinsGTTTC (n.*79_*83delinsGTTTC) c.*2094_*2098delinsGTTTC (n.*2094_*2098delinsGTTTC) | |
3 | g.24122809_24122812del | CA542154324 | THRB | c.*79_*82del (n.*79_*82del) c.*2094_*2097del (n.*2094_*2097del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122803A>G | CA2755546924 | THRB | c.*81T>C (n.*81T>C) c.*2096T>C (n.*2096T>C) | |
3 | g.24122804_24122805insTAAAGGAA | CA2755546923 | THRB | c.*81_*82insCCTTTATT (n.*81_*82insCCTTTATT) c.*2096_*2097insCCTTTATT (n.*2096_*2097insCCTTTATT) | |
3 | g.24122804A>T | CA2839029621 | THRB | c.*80T>A (n.*80T>A) c.*2095T>A (n.*2095T>A) | |
3 | g.24122805C>A | CA1351822078 | THRB | c.*79G>T (n.*79G>T) c.*2094G>T (n.*2094G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.24122805C= | CA1351822077 | THRB | c.*79G= (n.*79G=) c.*2094G= (n.*2094G=) | |
3 | g.24122806A>C | CA2664767977 | THRB | c.*78T>G (n.*78T>G) c.*2093T>G (n.*2093T>G) | gnomAD v4 |
3 | g.24122806A>G | CA2664767978 | THRB | c.*78T>C (n.*78T>C) c.*2093T>C (n.*2093T>C) | dbSNP gnomAD v4 |
3 | g.24122808del | CA2755546925 | THRB | c.*78del (n.*78del) c.*2093del (n.*2093del) | |
3 | g.24122807A>C | CA2511895262 | THRB | c.*77T>G (n.*77T>G) c.*2092T>G (n.*2092T>G) | gnomAD v4 |
3 | g.24122807A>G | CA2664767979 | THRB | c.*77T>C (n.*77T>C) c.*2092T>C (n.*2092T>C) | gnomAD v4 |
3 | g.24122808A>G | CA2577530517 | THRB | c.*76T>C (n.*76T>C) c.*2091T>C (n.*2091T>C) | dbSNP gnomAD v4 |
3 | g.24122809C>A | CA2594112654 | THRB | c.*75G>T (n.*75G>T) c.*2090G>T (n.*2090G>T) | gnomAD v3 gnomAD v4 |
3 | g.24122815del | CA2664767980 | THRB | c.*74del (n.*74del) c.*2089del (n.*2089del) | gnomAD v4 |
3 | g.24122812_24122815del | CA2664767981 | THRB | c.*71_*74del (n.*71_*74del) c.*2086_*2089del (n.*2086_*2089del) | gnomAD v4 |
3 | g.24122814_24122817del | CA2664767982 | THRB | c.*68_*71del (n.*68_*71del) c.*2083_*2086del (n.*2083_*2086del) | gnomAD v4 |
3 | g.24122814A>G | CA2664767983 | THRB | c.*70T>C (n.*70T>C) c.*2085T>C (n.*2085T>C) | gnomAD v4 |
3 | g.24122819C>A | CA2839378498 | THRB | c.*65G>T (n.*65G>T) c.*2080G>T (n.*2080G>T) | |
3 | g.24122821A>G | CA2755546926 | THRB | c.*63T>C (n.*63T>C) c.*2078T>C (n.*2078T>C) | |
3 | g.24122823G>A | CA2538490230 | THRB | c.*61C>T (n.*61C>T) c.*2076C>T (n.*2076C>T) | gnomAD v4 |
3 | g.24122823G>C | CA2664767984 | THRB | c.*61C>G (n.*61C>G) c.*2076C>G (n.*2076C>G) | gnomAD v4 |
3 | g.24122823G>T | CA2664767985 | THRB | c.*61C>A (n.*61C>A) c.*2076C>A (n.*2076C>A) | gnomAD v4 |
3 | g.24122824C>A | CA2839029624 | THRB | c.*60G>T (n.*60G>T) c.*2075G>T (n.*2075G>T) | |
3 | g.24122827T>C | CA2664767986 | THRB | c.*57A>G (n.*57A>G) c.*2072A>G (n.*2072A>G) | gnomAD v4 |
3 | g.24122828G>A | CA2664767987 | THRB | c.*56C>T (n.*56C>T) c.*2071C>T (n.*2071C>T) | gnomAD v4 |
3 | g.24122828G>T | CA2577530518 | THRB | c.*56C>A (n.*56C>A) c.*2071C>A (n.*2071C>A) | |
3 | g.24122831A= | CA1351822079 | THRB | c.*53T= (n.*53T=) c.*2068T= (n.*2068T=) | |
3 | g.24122831A>G | CA1351822080 | THRB | c.*53T>C (n.*53T>C) c.*2068T>C (n.*2068T>C) | dbSNP |
3 | g.24122833G>A | CA2664767988 | THRB | c.*51C>T (n.*51C>T) c.*2066C>T (n.*2066C>T) | gnomAD v4 |
3 | g.24122833_24122834delinsGA | CA1351822081 | THRB | c.*50_*51delinsTC (n.*50_*51delinsTC) c.*2065_*2066delinsTC (n.*2065_*2066delinsTC) | |
3 | g.24122836del | CA1351822082 | THRB | c.*50del (n.*50del) c.*2065del (n.*2065del) | dbSNP gnomAD v4 |
3 | g.24122836A>G | CA2577530519 | THRB | c.*48T>C (n.*48T>C) c.*2063T>C (n.*2063T>C) | |
3 | g.24122838G>A | CA1351822084 | THRB | c.*46C>T (n.*46C>T) c.*2061C>T (n.*2061C>T) | dbSNP gnomAD v4 |
3 | g.24122838G= | CA1351822083 | THRB | c.*46C= (n.*46C=) c.*2061C= (n.*2061C=) | |
3 | g.24122839A= | CA1351822085 | THRB | c.*45T= (n.*45T=) c.*2060T= (n.*2060T=) | |
3 | g.24122839A>T | CA542154325 | THRB | c.*45T>A (n.*45T>A) c.*2060T>A (n.*2060T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.24122840C= | CA1351822086 | THRB | c.*44G= (n.*44G=) c.*2059G= (n.*2059G=) | |
3 | g.24122840C>T | CA71604791 | THRB | c.*44G>A (n.*44G>A) c.*2059G>A (n.*2059G>A) | dbSNP gnomAD v4 |
3 | g.24122841A>C | CA2702467799 | THRB | c.*43T>G (n.*43T>G) c.*2058T>G (n.*2058T>G) | dbSNP |
3 | g.24122841A>G | CA2577530520 | THRB | c.*43T>C (n.*43T>C) c.*2058T>C (n.*2058T>C) | |
3 | g.24122842C>A | CA2664767989 | THRB | c.*42G>T (n.*42G>T) c.*2057G>T (n.*2057G>T) | gnomAD v4 |
3 | g.24122842C= | CA1351822087 | THRB | c.*42G= (n.*42G=) c.*2057G= (n.*2057G=) | |
3 | g.24122842C>G | CA2755546927 | THRB | c.*42G>C (n.*42G>C) c.*2057G>C (n.*2057G>C) | |
3 | g.24122842C>T | CA2287071 | THRB | c.*42G>A (n.*42G>A) c.*2057G>A (n.*2057G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122843C>A | CA2664767990 | THRB | c.*41G>T (n.*41G>T) c.*2056G>T (n.*2056G>T) | gnomAD v4 |
3 | g.24122843C>T | CA2755546928 | THRB | c.*41G>A (n.*41G>A) c.*2056G>A (n.*2056G>A) | |
3 | g.24122844C>A | CA2664767991 | THRB | c.*40G>T (n.*40G>T) c.*2055G>T (n.*2055G>T) | gnomAD v4 |
3 | g.24122844C>T | CA2664767992 | THRB | c.*40G>A (n.*40G>A) c.*2055G>A (n.*2055G>A) | gnomAD v4 |
3 | g.24122845A>G | CA2504930130 | THRB | c.*39T>C (n.*39T>C) c.*2054T>C (n.*2054T>C) | |
3 | g.24122847T>C | CA2287072 | THRB | c.*37A>G (n.*37A>G) c.*2052A>G (n.*2052A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.24122847T= | CA1351822088 | THRB | c.*37A= (n.*37A=) c.*2052A= (n.*2052A=) | |
3 | g.24122848A= | CA1351822089 | THRB | c.*36T= (n.*36T=) c.*2051T= (n.*2051T=) | |
3 | g.24122848A>G | CA71604807 | THRB | c.*36T>C (n.*36T>C) c.*2051T>C (n.*2051T>C) | dbSNP |
3 | g.24122849G>A | CA2664767993 | THRB | c.*35C>T (n.*35C>T) c.*2050C>T (n.*2050C>T) | gnomAD v4 |
3 | g.24122849G>C | CA542154326 | THRB | c.*35C>G (n.*35C>G) c.*2050C>G (n.*2050C>G) | dbSNP gnomAD v2 |
3 | g.24122849G= | CA1351822090 | THRB | c.*35C= (n.*35C=) c.*2050C= (n.*2050C=) | |
3 | g.24122851G>A | CA542154327 | THRB | c.*33C>T (n.*33C>T) c.*2048C>T (n.*2048C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.24122851G>C | CA905454960 | THRB | c.*33C>G (n.*33C>G) c.*2048C>G (n.*2048C>G) | dbSNP |
3 | g.24122851G= | CA1351822091 | THRB | c.*33C= (n.*33C=) c.*2048C= (n.*2048C=) | |
3 | g.24122852C>T | CA2664767994 | THRB | c.*32G>A (n.*32G>A) c.*2047G>A (n.*2047G>A) | gnomAD v4 |
3 | g.24122853T>C | CA2664767995 | THRB | c.*31A>G (n.*31A>G) c.*2046A>G (n.*2046A>G) | gnomAD v4 |
3 | g.24122854G= | CA1351822092 | THRB | c.*30C= (n.*30C=) c.*2045C= (n.*2045C=) | |
3 | g.24122854G>T | CA905454961 | THRB | c.*30C>A (n.*30C>A) c.*2045C>A (n.*2045C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.24122855T>A | CA2755546929 | THRB | c.*29A>T (n.*29A>T) c.*2044A>T (n.*2044A>T) | |
3 | g.24122855T>C | CA542154328 | THRB | c.*29A>G (n.*29A>G) c.*2044A>G (n.*2044A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.24122855T= | CA1351822093 | THRB | c.*29A= (n.*29A=) c.*2044A= (n.*2044A=) | |
3 | g.24122856A>T | CA2755546930 | THRB | c.*28T>A (n.*28T>A) c.*2043T>A (n.*2043T>A) | |
3 | g.24122858G>A | CA2577530521 | THRB | c.*26C>T (n.*26C>T) c.*2041C>T (n.*2041C>T) | |
3 | g.24122860_24122863dup | CA2664767996 | THRB | c.*22_*25dup (n.*22_*25dup) c.*2037_*2040dup (n.*2037_*2040dup) | gnomAD v4 |
3 | g.24122860A= | CA1351822094 | THRB | c.*24T= (n.*24T=) c.*2039T= (n.*2039T=) | |
3 | g.24122860A>T | CA71604822 | THRB | c.*24T>A (n.*24T>A) c.*2039T>A (n.*2039T>A) | dbSNP gnomAD v4 |
3 | g.24122862T>C | CA542154329 | THRB | c.*22A>G (n.*22A>G) c.*2037A>G (n.*2037A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.24122862T>G | CA2287073 | THRB | c.*22A>C (n.*22A>C) c.*2037A>C (n.*2037A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.24122862T= | CA1351822095 | THRB | c.*22A= (n.*22A=) c.*2037A= (n.*2037A=) | |
3 | g.24122863A= | CA1351822096 | THRB | c.*21T= (n.*21T=) c.*2036T= (n.*2036T=) | |
3 | g.24122863A>G | CA542154330 | THRB | c.*21T>C (n.*21T>C) c.*2036T>C (n.*2036T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122863A>T | CA2664767997 | THRB | c.*21T>A (n.*21T>A) c.*2036T>A (n.*2036T>A) | gnomAD v4 |
3 | g.24122864T>C | CA542154331 | THRB | c.*20A>G (n.*20A>G) c.*2035A>G (n.*2035A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.24122864T= | CA1351822097 | THRB | c.*20A= (n.*20A=) c.*2035A= (n.*2035A=) | |
3 | g.24122864_24122865insTTGGGAGGGAAAAGG | CA2510097211 | THRB | c.*19_*20insCCTTTTCCCTCCCAA (n.*19_*20insCCTTTTCCCTCCCAA) c.*2034_*2035insCCTTTTCCCTCCCAA (n.*2034_*2035insCCTTTTCCCTCCCAA) | |
3 | g.24122865G>A | CA2755546931 | THRB | c.*19C>T (n.*19C>T) c.*2034C>T (n.*2034C>T) | |
3 | g.24122867G= | CA1351822098 | THRB | c.*17C= (n.*17C=) c.*2032C= (n.*2032C=) | |
3 | g.24122867G>T | CA2287074 | THRB | c.*17C>A (n.*17C>A) c.*2032C>A (n.*2032C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122868A>C | CA2755546932 | THRB | c.*16T>G (n.*16T>G) c.*2031T>G (n.*2031T>G) | |
3 | g.24122870T>G | CA71604835 | THRB | c.*14A>C (n.*14A>C) c.*2029A>C (n.*2029A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.24122870T= | CA1351822099 | THRB | c.*14A= (n.*14A=) c.*2029A= (n.*2029A=) | |
3 | g.24122871G>A | CA2664767998 | THRB | c.*13C>T (n.*13C>T) c.*2028C>T (n.*2028C>T) | gnomAD v4 |
3 | g.24122873A>G | CA2577530522 | THRB | c.*11T>C (n.*11T>C) c.*2026T>C (n.*2026T>C) | gnomAD v4 |
3 | g.24122875C>T | CA2586965644 | THRB | c.*9G>A (n.*9G>A) c.*2024G>A (n.*2024G>A) | |
3 | g.24122876del | CA2755546933 | THRB | c.*9del (n.*9del) c.*2024del (n.*2024del) | |
3 | g.24122876C= | CA1351822100 | THRB | c.*8G= (n.*8G=) c.*2023G= (n.*2023G=) | |
3 | g.24122881_24122884del | CA2664767999 | THRB | c.*5_*8del (n.*5_*8del) c.*2020_*2023del (n.*2020_*2023del) | gnomAD v4 |
3 | g.24122877_24122879dup | CA1045973678 | THRB | c.*5_*7dup (n.*5_*7dup) c.*2020_*2022dup (n.*2020_*2022dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.24122880C= | CA1351822102 | THRB | c.*4G= (n.*4G=) c.*2019G= (n.*2019G=) | |
3 | g.24122880C>T | CA2287075 | THRB | c.*4G>A (n.*4G>A) c.*2019G>A (n.*2019G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122881A>G | CA2664768000 | THRB | c.*3T>C (n.*3T>C) c.*2018T>C (n.*2018T>C) | gnomAD v4 |
3 | g.24122882G>A | CA2287076 | THRB | c.*2C>T (n.*2C>T) c.*2017C>T (n.*2017C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122882G>C | CA1351822105 | THRB | c.*2C>G (n.*2C>G) c.*2017C>G (n.*2017C>G) | dbSNP |
3 | g.24122882G= | CA1351822104 | THRB | c.*2C= (n.*2C=) c.*2017C= (n.*2017C=) | |
3 | g.24122884C>A | CA351886431 | THRB | c.1386G>T (p.Ter462Tyr) c.*2015G>T (n.*2015G>T) c.1431G>T (p.Ter477Tyr) c.1293G>T (p.Ter431Tyr) c.1215G>T (p.Ter405Tyr) | |
3 | g.24122884C= | CA1351822106 | THRB | c.1386G= (p.Ter462=) c.*2015G= (n.*2015G=) c.1431G= (p.Ter477=) c.1293G= (p.Ter431=) c.1215G= (p.Ter405=) | |
3 | g.24122884C>G | CA351886432 | THRB | c.1386G>C (p.Ter462Tyr) c.*2015G>C (n.*2015G>C) c.1431G>C (p.Ter477Tyr) c.1293G>C (p.Ter431Tyr) c.1215G>C (p.Ter405Tyr) | dbSNP |
3 | g.24122884C>T | CA432903829 | THRB | c.1386G>A (p.Ter462=) c.*2015G>A (n.*2015G>A) c.1431G>A (p.Ter477=) c.1293G>A (p.Ter431=) c.1215G>A (p.Ter405=) | |
3 | g.24122885T>A | CA351886435 | THRB | c.1385A>T (p.Ter462Leu) c.*2014A>T (n.*2014A>T) c.1430A>T (p.Ter477Leu) c.1292A>T (p.Ter431Leu) c.1214A>T (p.Ter405Leu) | |
3 | g.24122885T>C | CA351886434 | THRB | c.1385A>G (p.Ter462Trp) c.*2014A>G (n.*2014A>G) c.1430A>G (p.Ter477Trp) c.1292A>G (p.Ter431Trp) c.1214A>G (p.Ter405Trp) | |
3 | g.24122885T>G | CA351886433 | THRB | c.1385A>C (p.Ter462Ser) c.*2014A>C (n.*2014A>C) c.1430A>C (p.Ter477Ser) c.1292A>C (p.Ter431Ser) c.1214A>C (p.Ter405Ser) | |
3 | g.24122886A>C | CA351886436 | THRB | c.1384T>G (p.Ter462Glu) c.*2013T>G (n.*2013T>G) c.1429T>G (p.Ter477Glu) c.1291T>G (p.Ter431Glu) c.1213T>G (p.Ter405Glu) | |
3 | g.24122886A>G | CA351886437 | THRB | c.1384T>C (p.Ter462Gln) c.*2013T>C (n.*2013T>C) c.1429T>C (p.Ter477Gln) c.1291T>C (p.Ter431Gln) c.1213T>C (p.Ter405Gln) | |
3 | g.24122886A>T | CA351886438 | THRB | c.1384T>A (p.Ter462Lys) c.*2013T>A (n.*2013T>A) c.1429T>A (p.Ter477Lys) c.1291T>A (p.Ter431Lys) c.1213T>A (p.Ter405Lys) | |
3 | g.24122887A>C | CA351886439 | THRB | c.1383T>G (p.Asp461Glu) c.*2012T>G (n.*2012T>G) c.1428T>G (p.Asp476Glu) c.1290T>G (p.Asp430Glu) c.1212T>G (p.Asp404Glu) | |
3 | g.24122887A>G | CA432903848 | THRB | c.1383T>C (p.Asp461=) c.*2012T>C (n.*2012T>C) c.1428T>C (p.Asp476=) c.1290T>C (p.Asp430=) c.1212T>C (p.Asp404=) | |
3 | g.24122887A>T | CA351886440 | THRB | c.1383T>A (p.Asp461Glu) c.*2012T>A (n.*2012T>A) c.1428T>A (p.Asp476Glu) c.1290T>A (p.Asp430Glu) c.1212T>A (p.Asp404Glu) | |
3 | g.24122888T>A | CA351886441 | THRB | c.1382A>T (p.Asp461Val) c.*2011A>T (n.*2011A>T) c.1427A>T (p.Asp476Val) c.1289A>T (p.Asp430Val) c.1211A>T (p.Asp404Val) | |
3 | g.24122888T>C | CA351886442 | THRB | c.1382A>G (p.Asp461Gly) c.*2011A>G (n.*2011A>G) c.1427A>G (p.Asp476Gly) c.1289A>G (p.Asp430Gly) c.1211A>G (p.Asp404Gly) | |
3 | g.24122888T>G | CA351886443 | THRB | c.1382A>C (p.Asp461Ala) c.*2011A>C (n.*2011A>C) c.1427A>C (p.Asp476Ala) c.1289A>C (p.Asp430Ala) c.1211A>C (p.Asp404Ala) | |
3 | g.24122889C>A | CA351886444 | THRB | c.1381G>T (p.Asp461Tyr) c.*2010G>T (n.*2010G>T) c.1426G>T (p.Asp476Tyr) c.1288G>T (p.Asp430Tyr) c.1210G>T (p.Asp404Tyr) | |
3 | g.24122889C>G | CA351886445 | THRB | c.1381G>C (p.Asp461His) c.*2010G>C (n.*2010G>C) c.1426G>C (p.Asp476His) c.1288G>C (p.Asp430His) c.1210G>C (p.Asp404His) | |
3 | g.24122889C>T | CA351886446 | THRB | c.1381G>A (p.Asp461Asn) c.*2010G>A (n.*2010G>A) c.1426G>A (p.Asp476Asn) c.1288G>A (p.Asp430Asn) c.1210G>A (p.Asp404Asn) | |
3 | g.24122890C>A | CA351886447 | THRB | c.1380G>T (p.Glu460Asp) c.*2009G>T (n.*2009G>T) c.1425G>T (p.Glu475Asp) c.1287G>T (p.Glu429Asp) c.1209G>T (p.Glu403Asp) | |
3 | g.24122890C= | CA1351822107 | THRB | c.1380G= (p.Glu460=) c.*2009G= (n.*2009G=) c.1425G= (p.Glu475=) c.1287G= (p.Glu429=) c.1209G= (p.Glu403=) | |
3 | g.24122890C>G | CA351886448 | THRB | c.1380G>C (p.Glu460Asp) c.*2009G>C (n.*2009G>C) c.1425G>C (p.Glu475Asp) c.1287G>C (p.Glu429Asp) c.1209G>C (p.Glu403Asp) | |
3 | g.24122890C>T | CA432903871 | THRB | c.1380G>A (p.Glu460=) c.*2009G>A (n.*2009G>A) c.1425G>A (p.Glu475=) c.1287G>A (p.Glu429=) c.1209G>A (p.Glu403=) | dbSNP |
3 | g.24122891T>A | CA351886451 | THRB | c.1379A>T (p.Glu460Val) c.*2008A>T (n.*2008A>T) c.1424A>T (p.Glu475Val) c.1286A>T (p.Glu429Val) c.1208A>T (p.Glu403Val) | |
3 | g.24122891T>C | CA351886450 | THRB | c.1379A>G (p.Glu460Gly) c.*2008A>G (n.*2008A>G) c.1424A>G (p.Glu475Gly) c.1286A>G (p.Glu429Gly) c.1208A>G (p.Glu403Gly) | |
3 | g.24122891T>G | CA351886449 | THRB | c.1379A>C (p.Glu460Ala) c.*2008A>C (n.*2008A>C) c.1424A>C (p.Glu475Ala) c.1286A>C (p.Glu429Ala) c.1208A>C (p.Glu403Ala) | |
3 | g.24122892C>A | CA351886452 | THRB | c.1378G>T (p.Glu460Ter) c.*2007G>T (n.*2007G>T) c.1423G>T (p.Glu475Ter) c.1285G>T (p.Glu429Ter) c.1207G>T (p.Glu403Ter) | |
3 | g.24122892C= | CA1351822108 | THRB | c.1378G= (p.Glu460=) c.*2007G= (n.*2007G=) c.1423G= (p.Glu475=) c.1285G= (p.Glu429=) c.1207G= (p.Glu403=) | |
3 | g.24122892C>G | CA351886453 | THRB | c.1378G>C (p.Glu460Gln) c.*2007G>C (n.*2007G>C) c.1423G>C (p.Glu475Gln) c.1285G>C (p.Glu429Gln) c.1207G>C (p.Glu403Gln) | |
3 | g.24122892C>T | CA351886454 | THRB | c.1378G>A (p.Glu460Lys) c.*2007G>A (n.*2007G>A) c.1423G>A (p.Glu475Lys) c.1285G>A (p.Glu429Lys) c.1207G>A (p.Glu403Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.24122893G>A | CA432903888 | THRB | c.1377C>T (p.Phe459=) c.*2006C>T (n.*2006C>T) c.1422C>T (p.Phe474=) c.1284C>T (p.Phe428=) c.1206C>T (p.Phe402=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.24122893G>C | CA351886455 | THRB | c.1377C>G (p.Phe459Leu) c.*2006C>G (n.*2006C>G) c.1422C>G (p.Phe474Leu) c.1284C>G (p.Phe428Leu) c.1206C>G (p.Phe402Leu) | |
3 | g.24122893G= | CA1351822109 | THRB | c.1377C= (p.Phe459=) c.*2006C= (n.*2006C=) c.1422C= (p.Phe474=) c.1284C= (p.Phe428=) c.1206C= (p.Phe402=) | |
3 | g.24122893G>T | CA351886456 | THRB | c.1377C>A (p.Phe459Leu) c.*2006C>A (n.*2006C>A) c.1422C>A (p.Phe474Leu) c.1284C>A (p.Phe428Leu) c.1206C>A (p.Phe402Leu) | ClinVar dbSNP |
3 | g.24122894A= | CA1351822110 | THRB | c.1376T= (p.Phe459=) c.*2005T= (n.*2005T=) c.1421T= (p.Phe474=) c.1283T= (p.Phe428=) c.1205T= (p.Phe402=) | |
3 | g.24122894A>C | CA122499 | THRB | c.1376T>G (p.Phe459Cys) c.*2005T>G (n.*2005T>G) c.1421T>G (p.Phe474Cys) c.1283T>G (p.Phe428Cys) c.1205T>G (p.Phe402Cys) | ClinVar dbSNP |
3 | g.24122894A>G | CA351886457 | THRB | c.1376T>C (p.Phe459Ser) c.*2005T>C (n.*2005T>C) c.1421T>C (p.Phe474Ser) c.1283T>C (p.Phe428Ser) c.1205T>C (p.Phe402Ser) | |
3 | g.24122894A>T | CA351886458 | THRB | c.1376T>A (p.Phe459Tyr) c.*2005T>A (n.*2005T>A) c.1421T>A (p.Phe474Tyr) c.1283T>A (p.Phe428Tyr) c.1205T>A (p.Phe402Tyr) | |
3 | g.24122895A>C | CA351886459 | THRB | c.1375T>G (p.Phe459Val) c.*2004T>G (n.*2004T>G) c.1420T>G (p.Phe474Val) c.1282T>G (p.Phe428Val) c.1204T>G (p.Phe402Val) | |
3 | g.24122895A>G | CA351886460 | THRB | c.1375T>C (p.Phe459Leu) c.*2004T>C (n.*2004T>C) c.1420T>C (p.Phe474Leu) c.1282T>C (p.Phe428Leu) c.1204T>C (p.Phe402Leu) | |
3 | g.24122895A>T | CA351886461 | THRB | c.1375T>A (p.Phe459Ile) c.*2004T>A (n.*2004T>A) c.1420T>A (p.Phe474Ile) c.1282T>A (p.Phe428Ile) c.1204T>A (p.Phe402Ile) | |
3 | g.24122897_24122898dup | CA2577530523 | THRB | c.1374_1375dup (p.Phe459CysfsTer?) c.*2003_*2004dup (n.*2003_*2004dup) c.1419_1420dup (p.Phe474CysfsTer?) c.1281_1282dup (p.Phe428CysfsTer?) c.1203_1204dup (p.Phe402CysfsTer?) | |
3 | g.24122896C>A | CA432903917 | THRB | c.1374G>T (p.Val458=) c.*2003G>T (n.*2003G>T) c.1419G>T (p.Val473=) c.1281G>T (p.Val427=) c.1203G>T (p.Val401=) | |
3 | g.24122896C= | CA1351822111 | THRB | c.1374G= (p.Val458=) c.*2003G= (n.*2003G=) c.1419G= (p.Val473=) c.1281G= (p.Val427=) c.1203G= (p.Val401=) | |
3 | g.24122896C>G | CA432903922 | THRB | c.1374G>C (p.Val458=) c.*2003G>C (n.*2003G>C) c.1419G>C (p.Val473=) c.1281G>C (p.Val427=) c.1203G>C (p.Val401=) | |
3 | g.24122896C>T | CA2287077 | THRB | c.1374G>A (p.Val458=) c.*2003G>A (n.*2003G>A) c.1419G>A (p.Val473=) c.1281G>A (p.Val427=) c.1203G>A (p.Val401=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.24122897A= | CA1351822112 | THRB | c.1373T= (p.Val458=) c.*2002T= (n.*2002T=) c.1418T= (p.Val473=) c.1280T= (p.Val427=) c.1202T= (p.Val401=) | |
3 | g.24122897A>C | CA351886463 | THRB | c.1373T>G (p.Val458Gly) c.*2002T>G (n.*2002T>G) c.1418T>G (p.Val473Gly) c.1280T>G (p.Val427Gly) c.1202T>G (p.Val401Gly) | |
3 | g.24122897A>G | CA122505 | THRB | c.1373T>C (p.Val458Ala) c.*2002T>C (n.*2002T>C) c.1418T>C (p.Val473Ala) c.1280T>C (p.Val427Ala) c.1202T>C (p.Val401Ala) | ClinVar dbSNP |
3 | g.24122897A>T | CA351886462 | THRB | c.1373T>A (p.Val458Glu) c.*2002T>A (n.*2002T>A) c.1418T>A (p.Val473Glu) c.1280T>A (p.Val427Glu) c.1202T>A (p.Val401Glu) | |
3 | g.24122898C>A | CA351886464 | THRB | c.1372G>T (p.Val458Leu) c.*2001G>T (n.*2001G>T) c.1417G>T (p.Val473Leu) c.1279G>T (p.Val427Leu) c.1201G>T (p.Val401Leu) | |
3 | g.24122898C>G | CA351886465 | THRB | c.1372G>C (p.Val458Leu) c.*2001G>C (n.*2001G>C) c.1417G>C (p.Val473Leu) c.1279G>C (p.Val427Leu) c.1201G>C (p.Val401Leu) | |
3 | g.24122898C>T | CA351886466 | THRB | c.1372G>A (p.Val458Met) c.*2001G>A (n.*2001G>A) c.1417G>A (p.Val473Met) c.1279G>A (p.Val427Met) c.1201G>A (p.Val401Met) | |
3 | g.24122899T>A | CA351886467 | THRB | c.1371A>T (p.Glu457Asp) c.*2000A>T (n.*2000A>T) c.1416A>T (p.Glu472Asp) c.1278A>T (p.Glu426Asp) c.1200A>T (p.Glu400Asp) | |
3 | g.24122899T>C | CA432903948 | THRB | c.1371A>G (p.Glu457=) c.*2000A>G (n.*2000A>G) c.1416A>G (p.Glu472=) c.1278A>G (p.Glu426=) c.1200A>G (p.Glu400=) | gnomAD v4 |
3 | g.24122899T>G | CA351886468 | THRB | c.1371A>C (p.Glu457Asp) c.*2000A>C (n.*2000A>C) c.1416A>C (p.Glu472Asp) c.1278A>C (p.Glu426Asp) c.1200A>C (p.Glu400Asp) | ClinVar COSMIC |
3 | g.24122900T>A | CA351886469 | THRB | c.1370A>T (p.Glu457Val) c.*1999A>T (n.*1999A>T) c.1415A>T (p.Glu472Val) c.1277A>T (p.Glu426Val) c.1199A>T (p.Glu400Val) | |
3 | g.24122900T>C | CA351886470 | THRB | c.1370A>G (p.Glu457Gly) c.*1999A>G (n.*1999A>G) c.1415A>G (p.Glu472Gly) c.1277A>G (p.Glu426Gly) c.1199A>G (p.Glu400Gly) | |
3 | g.24122900T>G | CA351886471 | THRB | c.1370A>C (p.Glu457Ala) c.*1999A>C (n.*1999A>C) c.1415A>C (p.Glu472Ala) c.1277A>C (p.Glu426Ala) c.1199A>C (p.Glu400Ala) | |
3 | g.24122901C>A | CA351886472 | THRB | c.1369G>T (p.Glu457Ter) c.*1998G>T (n.*1998G>T) c.1414G>T (p.Glu472Ter) c.1276G>T (p.Glu426Ter) c.1198G>T (p.Glu400Ter) | |
3 | g.24122901C>G | CA351886473 | THRB | c.1369G>C (p.Glu457Gln) c.*1998G>C (n.*1998G>C) c.1414G>C (p.Glu472Gln) c.1276G>C (p.Glu426Gln) c.1198G>C (p.Glu400Gln) | |
3 | g.24122901C>T | CA351886474 | THRB | c.1369G>A (p.Glu457Lys) c.*1998G>A (n.*1998G>A) c.1414G>A (p.Glu472Lys) c.1276G>A (p.Glu426Lys) c.1198G>A (p.Glu400Lys) | |
3 | g.24122901_24122902insG | CA2586965650 | THRB | c.1368_1369insC (p.Glu457ArgfsTer8) c.*1997_*1998insC (n.*1997_*1998insC) c.1413_1414insC (p.Glu472ArgfsTer8) c.1275_1276insC (p.Glu426ArgfsTer8) c.1197_1198insC (p.Glu400ArgfsTer8) | |
3 | g.24122902C>A | CA351886475 | THRB | c.1368G>T (p.Leu456Phe) c.*1997G>T (n.*1997G>T) c.1413G>T (p.Leu471Phe) c.1275G>T (p.Leu425Phe) c.1197G>T (p.Leu399Phe) | |
3 | g.24122902C>G | CA351886476 | THRB | c.1368G>C (p.Leu456Phe) c.*1997G>C (n.*1997G>C) c.1413G>C (p.Leu471Phe) c.1275G>C (p.Leu425Phe) c.1197G>C (p.Leu399Phe) | |
3 | g.24122902C>T | CA432903972 | THRB | c.1368G>A (p.Leu456=) c.*1997G>A (n.*1997G>A) c.1413G>A (p.Leu471=) c.1275G>A (p.Leu425=) c.1197G>A (p.Leu399=) | gnomAD v4 |
3 | g.24122903A= | CA1351822115 | THRB | c.1367T= (p.Leu456=) c.*1996T= (n.*1996T=) c.1412T= (p.Leu471=) c.1274T= (p.Leu425=) c.1196T= (p.Leu399=) | |
3 | g.24122903A>C | CA351886478 | THRB | c.1367T>G (p.Leu456Trp) c.*1996T>G (n.*1996T>G) c.1412T>G (p.Leu471Trp) c.1274T>G (p.Leu425Trp) c.1196T>G (p.Leu399Trp) | |
3 | g.24122903A>G | CA351886479 | THRB | c.1367T>C (p.Leu456Ser) c.*1996T>C (n.*1996T>C) c.1412T>C (p.Leu471Ser) c.1274T>C (p.Leu425Ser) c.1196T>C (p.Leu399Ser) | ClinVar dbSNP COSMIC |
3 | g.24122903A>T | CA351886477 | THRB | c.1367T>A (p.Leu456Ter) c.*1996T>A (n.*1996T>A) c.1412T>A (p.Leu471Ter) c.1274T>A (p.Leu425Ter) c.1196T>A (p.Leu399Ter) |