Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.13492789A= | CA1953324725 | PTH | c.67T= (p.Ser23=) c.163T= (p.Ser55=) | |
11 | g.13492789A>C | CA379724927 | PTH | c.67T>G (p.Ser23Ala) c.163T>G (p.Ser55Ala) | |
11 | g.13492789A>G | CA123437 | PTH | c.67T>C (p.Ser23Pro) c.163T>C (p.Ser55Pro) | ClinVar dbSNP |
11 | g.13492789A>T | CA379724928 | PTH | c.67T>A (p.Ser23Thr) c.163T>A (p.Ser55Thr) | |
11 | g.13492789_13492793delinsATTTT | CA1953324721 | PTH | c.63_67delinsAAAAT (p.Thr21=) c.159_163delinsAAAAT (p.Thr53=) | |
11 | g.13492789_13492798delinsATTTTGTAAG | CA1953324722 | PTH | c.58_67delinsCTTACAAAAT (p.Leu20=) c.154_163delinsCTTACAAAAT (p.Leu52=) | |
11 | g.13492790T>A | CA379724929 | PTH | c.66A>T (p.Lys22Asn) c.162A>T (p.Lys54Asn) | |
11 | g.13492790T>C | CA473263416 | PTH | c.66A>G (p.Lys22=) c.162A>G (p.Lys54=) | |
11 | g.13492790T>G | CA379724930 | PTH | c.66A>C (p.Lys22Asn) c.162A>C (p.Lys54Asn) | |
11 | g.13492790_13492793del | CA597903305 | PTH | c.63_66del (p.Lys22ArgfsTer11) c.159_162del (p.Lys54ArgfsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.13492790_13492798del | CA673824348 | PTH | c.58_66del (p.Leu20_Lys22del) c.154_162del (p.Leu52_Lys54del) | dbSNP |
11 | g.13492791T>A | CA379724931 | PTH | c.65A>T (p.Lys22Ile) c.161A>T (p.Lys54Ile) | |
11 | g.13492791T>C | CA379724932 | PTH | c.65A>G (p.Lys22Arg) c.161A>G (p.Lys54Arg) | |
11 | g.13492791T>G | CA379724933 | PTH | c.65A>C (p.Lys22Thr) c.161A>C (p.Lys54Thr) | COSMIC |
11 | g.13492792T>A | CA379724936 | PTH | c.64A>T (p.Lys22Ter) c.160A>T (p.Lys54Ter) | |
11 | g.13492792T>C | CA379724935 | PTH | c.64A>G (p.Lys22Glu) c.160A>G (p.Lys54Glu) | |
11 | g.13492792T>G | CA379724934 | PTH | c.64A>C (p.Lys22Gln) c.160A>C (p.Lys54Gln) | dbSNP |
11 | g.13492792T= | CA1953324739 | PTH | c.64A= (p.Lys22=) c.160A= (p.Lys54=) | |
11 | g.13492793T>A | CA473263419 | PTH | c.63A>T (p.Thr21=) c.159A>T (p.Thr53=) | |
11 | g.13492793T>C | CA473263418 | PTH | c.63A>G (p.Thr21=) c.159A>G (p.Thr53=) | |
11 | g.13492793T>G | CA473263417 | PTH | c.63A>C (p.Thr21=) c.159A>C (p.Thr53=) | |
11 | g.13492794G>A | CA379724937 | PTH | c.62C>T (p.Thr21Ile) c.158C>T (p.Thr53Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.13492794G>C | CA379724938 | PTH | c.62C>G (p.Thr21Arg) c.158C>G (p.Thr53Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.13492794G= | CA1953324746 | PTH | c.62C= (p.Thr21=) c.158C= (p.Thr53=) | |
11 | g.13492794G>T | CA379724939 | PTH | c.62C>A (p.Thr21Lys) c.158C>A (p.Thr53Lys) | |
11 | g.13492794_13492797delinsGTAA | CA1953324749 | PTH | c.59_62delinsTTAC (p.Leu20=) c.155_158delinsTTAC (p.Leu52=) | |
11 | g.13492795del | CA2612561065 | PTH | c.61del (p.Thr21GlnfsTer13) c.157del (p.Thr53GlnfsTer13) | gnomAD v4 |
11 | g.13492795T>A | CA379724940 | PTH | c.61A>T (p.Thr21Ser) c.157A>T (p.Thr53Ser) | |
11 | g.13492795T>C | CA379724941 | PTH | c.61A>G (p.Thr21Ala) c.157A>G (p.Thr53Ala) | |
11 | g.13492795T>G | CA379724942 | PTH | c.61A>C (p.Thr21Pro) c.157A>C (p.Thr53Pro) | |
11 | g.13492795_13492797del | CA597903306 | PTH | c.59_61del (p.Leu20_Thr21delinsPro) c.155_157del (p.Leu52_Thr53delinsPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.13492796A>C | CA473263421 | PTH | c.60T>G (p.Leu20=) c.156T>G (p.Leu52=) | |
11 | g.13492796A>G | CA473263422 | PTH | c.60T>C (p.Leu20=) c.156T>C (p.Leu52=) | |
11 | g.13492796A>T | CA473263423 | PTH | c.60T>A (p.Leu20=) c.156T>A (p.Leu52=) | |
11 | g.13492797A>C | CA379724943 | PTH | c.59T>G (p.Leu20Arg) c.155T>G (p.Leu52Arg) | |
11 | g.13492797A>G | CA379724945 | PTH | c.59T>C (p.Leu20Pro) c.155T>C (p.Leu52Pro) | dbSNP |
11 | g.13492797A>T | CA379724944 | PTH | c.59T>A (p.Leu20His) c.155T>A (p.Leu52His) | |
11 | g.13492798G>A | CA379724946 | PTH | c.58C>T (p.Leu20Phe) c.154C>T (p.Leu52Phe) | COSMIC |
11 | g.13492798G>C | CA379724947 | PTH | c.58C>G (p.Leu20Val) c.154C>G (p.Leu52Val) | |
11 | g.13492798G>T | CA379724948 | PTH | c.58C>A (p.Leu20Ile) c.154C>A (p.Leu52Ile) | |
11 | g.13492798_13492800delinsGAA | CA1953324756 | PTH | c.56_58delinsTTC (p.Phe19=) c.152_154delinsTTC (p.Phe51=) | |
11 | g.13492799A= | CA1953324759 | PTH | c.57T= (p.Phe19=) c.153T= (p.Phe51=) | |
11 | g.13492799A>C | CA379724949 | PTH | c.57T>G (p.Phe19Leu) c.153T>G (p.Phe51Leu) | |
11 | g.13492799A>G | CA217889745 | PTH | c.57T>C (p.Phe19=) c.153T>C (p.Phe51=) | dbSNP |
11 | g.13492799A>T | CA379724950 | PTH | c.57T>A (p.Phe19Leu) c.153T>A (p.Phe51Leu) | |
11 | g.13492801_13492802del | CA597903307 | PTH | c.56_57del (p.Phe19SerfsTer10) c.152_153del (p.Phe51SerfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.13492800A= | CA1953324765 | PTH | c.56T= (p.Phe19=) c.152T= (p.Phe51=) | |
11 | g.13492800A>C | CA379724951 | PTH | c.56T>G (p.Phe19Cys) c.152T>G (p.Phe51Cys) | |
11 | g.13492800A>G | CA217889750 | PTH | c.56T>C (p.Phe19Ser) c.152T>C (p.Phe51Ser) | dbSNP gnomAD v4 |
11 | g.13492800A>T | CA379724952 | PTH | c.56T>A (p.Phe19Tyr) c.152T>A (p.Phe51Tyr) |