| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.168293194T>A | CA421716378 | TBX19 | c.519T>A (p.Arg173=) c.316T>A | dbSNP gnomAD v4 |
| 1 | g.168293194T>C | CA421716379 | TBX19 | c.519T>C (p.Arg173=) c.316T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293194T>G | CA1230520 | TBX19 | c.519T>G (p.Arg173=) c.316T>G | dbSNP ExAC |
| 1 | g.168293194T= | CA1205614145 | TBX19 | c.519T= (p.Arg173=) c.316T= | |
| 1 | g.168293195G>A | CA343106946 | TBX19 | c.520G>A (p.Val174Ile) c.317G>A | |
| 1 | g.168293195G>C | CA343106947 | TBX19 | c.520G>C (p.Val174Leu) c.317G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293195G= | CA1205614146 | TBX19 | c.520G= (p.Val174=) c.317G= | |
| 1 | g.168293195G>T | CA343106948 | TBX19 | c.520G>T (p.Val174Phe) c.317G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293196T>A | CA343106950 | TBX19 | c.521T>A (p.Val174Asp) c.318T>A | |
| 1 | g.168293196T>C | CA343106951 | TBX19 | c.521T>C (p.Val174Ala) c.318T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293196T>G | CA343106949 | TBX19 | c.521T>G (p.Val174Gly) c.318T>G | |
| 1 | g.168293196T= | CA1205614147 | TBX19 | c.521T= (p.Val174=) c.318T= | |
| 1 | g.168293197T>A | CA421716380 | TBX19 | c.522T>A (p.Val174=) c.319T>A | |
| 1 | g.168293197T>C | CA421716381 | TBX19 | c.522T>C (p.Val174=) c.319T>C | |
| 1 | g.168293197T>G | CA421716382 | TBX19 | c.522T>G (p.Val174=) c.319T>G | |
| 1 | g.168293198G>A | CA343106954 | TBX19 | c.523G>A (p.Gly175Arg) c.320G>A | |
| 1 | g.168293198G>C | CA343106952 | TBX19 | c.523G>C (p.Gly175Arg) c.320G>C | |
| 1 | g.168293198G>T | CA343106953 | TBX19 | c.523G>T (p.Gly175Ter) c.320G>T | |
| 1 | g.168293199G>A | CA343106955 | TBX19 | c.524G>A (p.Gly175Glu) c.321G>A | gnomAD v4 COSMIC |
| 1 | g.168293199G>C | CA343106956 | TBX19 | c.524G>C (p.Gly175Ala) c.321G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293199G= | CA1205614148 | TBX19 | c.524G= (p.Gly175=) c.321G= | |
| 1 | g.168293199G>T | CA343106957 | TBX19 | c.524G>T (p.Gly175Val) c.321G>T | ClinVar dbSNP |
| 1 | g.168293200A= | CA1148426359 | TBX19 | c.525A= (p.Gly175=) c.322A= | |
| 1 | g.168293200A>C | CA1230521 | TBX19 | c.525A>C (p.Gly175=) c.322A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293200A>G | CA421716383 | TBX19 | c.525A>G (p.Gly175=) c.322A>G | |
| 1 | g.168293200A>T | CA421716384 | TBX19 | c.525A>T (p.Gly175=) c.322A>T | |
| 1 | g.168293201_168293202insAACCCACCTTTCATCTAAAA | CA2746547400 | TBX19 | c.526_527insAACCCACCTTTCATCTAAAA (p.Ser176LysfsTer13) c.323_324insAACCCACCTTTCATCTAAAA | |
| 1 | g.168293201A>C | CA343106960 | TBX19 | c.526A>C (p.Ser176Arg) c.323A>C | |
| 1 | g.168293201A>G | CA343106958 | TBX19 | c.526A>G (p.Ser176Gly) c.323A>G | |
| 1 | g.168293201A>T | CA343106959 | TBX19 | c.526A>T (p.Ser176Cys) c.323A>T | |
| 1 | g.168293202G>A | CA343106961 | TBX19 | c.527G>A (p.Ser176Asn) c.324G>A | |
| 1 | g.168293202G>C | CA343106962 | TBX19 | c.527G>C (p.Ser176Thr) c.324G>C | |
| 1 | g.168293202G>T | CA343106963 | TBX19 | c.527G>T (p.Ser176Ile) c.324G>T | |
| 1 | g.168293203T>A | CA343106964 | TBX19 | c.528T>A (p.Ser176Arg) c.325T>A | |
| 1 | g.168293203T>C | CA421716385 | TBX19 | c.528T>C (p.Ser176=) c.325T>C | |
| 1 | g.168293203T>G | CA343106965 | TBX19 | c.528T>G (p.Ser176Arg) c.325T>G | |
| 1 | g.168293204G>A | CA343106967 | TBX19 | c.529G>A (p.Ala177Thr) c.326G>A | dbSNP gnomAD v4 |
| 1 | g.168293204G>C | CA343106966 | TBX19 | c.529G>C (p.Ala177Pro) c.326G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293204G= | CA1205614149 | TBX19 | c.529G= (p.Ala177=) c.326G= | |
| 1 | g.168293204G>T | CA1230522 | TBX19 | c.529G>T (p.Ala177Ser) c.326G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293205C>A | CA343106968 | TBX19 | c.530C>A (p.Ala177Asp) c.327C>A | |
| 1 | g.168293205C= | CA1205614150 | TBX19 | c.530C= (p.Ala177=) c.327C= | |
| 1 | g.168293205C>G | CA343106969 | TBX19 | c.530C>G (p.Ala177Gly) c.327C>G | dbSNP gnomAD v4 |
| 1 | g.168293205C>T | CA343106970 | TBX19 | c.530C>T (p.Ala177Val) c.327C>T | gnomAD v4 COSMIC |
| 1 | g.168293206C>A | CA421716388 | TBX19 | c.531C>A (p.Ala177=) c.328C>A | |
| 1 | g.168293206C>G | CA421716387 | TBX19 | c.531C>G (p.Ala177=) c.328C>G | |
| 1 | g.168293206C>T | CA421716386 | TBX19 | c.531C>T (p.Ala177=) c.328C>T | gnomAD v4 |
| 1 | g.168293207C>A | CA343106971 | TBX19 | c.532C>A (p.His178Asn) c.329C>A | |
| 1 | g.168293207C>G | CA343106972 | TBX19 | c.532C>G (p.His178Asp) c.329C>G | |
| 1 | g.168293207C>T | CA343106973 | TBX19 | c.532C>T (p.His178Tyr) c.329C>T | |
| 1 | g.168293208A>C | CA343106974 | TBX19 | c.533A>C (p.His178Pro) c.330A>C | |
| 1 | g.168293208A>G | CA343106975 | TBX19 | c.533A>G (p.His178Arg) c.330A>G | COSMIC |
| 1 | g.168293208A>T | CA343106976 | TBX19 | c.533A>T (p.His178Leu) c.330A>T | |
| 1 | g.168293209T>A | CA343106977 | TBX19 | c.534T>A (p.His178Gln) c.331T>A | |
| 1 | g.168293209T>C | CA421716389 | TBX19 | c.534T>C (p.His178=) c.331T>C | |
| 1 | g.168293209T>G | CA343106978 | TBX19 | c.534T>G (p.His178Gln) c.331T>G | |
| 1 | g.168293210C>A | CA421716390 | TBX19 | c.535C>A (p.Arg179=) c.332C>A | |
| 1 | g.168293210C= | CA1143401981 | TBX19 | c.535C= (p.Arg179=) c.332C= | |
| 1 | g.168293210C>G | CA343106979 | TBX19 | c.535C>G (p.Arg179Gly) c.332C>G | |
| 1 | g.168293210C>T | CA1230523 | TBX19 | c.535C>T (p.Arg179Ter) c.332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293211G>A | CA1230524 | TBX19 | c.536G>A (p.Arg179Gln) c.333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293211G>C | CA343106981 | TBX19 | c.536G>C (p.Arg179Pro) c.333G>C | |
| 1 | g.168293211G= | CA1141713285 | TBX19 | c.536G= (p.Arg179=) c.333G= | |
| 1 | g.168293211G>T | CA343106980 | TBX19 | c.536G>T (p.Arg179Leu) c.333G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293212A>C | CA421716391 | TBX19 | c.537A>C (p.Arg179=) c.334A>C | |
| 1 | g.168293212A>G | CA421716393 | TBX19 | c.537A>G (p.Arg179=) c.334A>G | |
| 1 | g.168293212A>T | CA421716392 | TBX19 | c.537A>T (p.Arg179=) c.334A>T | |
| 1 | g.168293213A>C | CA343106982 | TBX19 | c.538A>C (p.Met180Leu) c.335A>C | |
| 1 | g.168293213A>G | CA343106983 | TBX19 | c.538A>G (p.Met180Val) c.335A>G | gnomAD v4 |
| 1 | g.168293213A>T | CA343106984 | TBX19 | c.538A>T (p.Met180Leu) c.335A>T | |
| 1 | g.168293214T>A | CA343106985 | TBX19 | c.539T>A (p.Met180Lys) c.336T>A | |
| 1 | g.168293214T>C | CA343106986 | TBX19 | c.539T>C (p.Met180Thr) c.336T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293214T>G | CA343106987 | TBX19 | c.539T>G (p.Met180Arg) c.336T>G | |
| 1 | g.168293214T= | CA1205614151 | TBX19 | c.539T= (p.Met180=) c.336T= | |
| 1 | g.168293215G>A | CA343106988 | TBX19 | c.540G>A (p.Met180Ile) c.337G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293215G>C | CA343106989 | TBX19 | c.540G>C (p.Met180Ile) c.337G>C | |
| 1 | g.168293215G= | CA1205614152 | TBX19 | c.540G= (p.Met180=) c.337G= | |
| 1 | g.168293215G>T | CA343106990 | TBX19 | c.540G>T (p.Met180Ile) c.337G>T | |
| 1 | g.168293216G>A | CA1230525 | TBX19 | c.541G>A (p.Val181Ile) c.338G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293216G>C | CA343106991 | TBX19 | c.541G>C (p.Val181Leu) c.338G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293216G= | CA1205614153 | TBX19 | c.541G= (p.Val181=) c.338G= | |
| 1 | g.168293216G>T | CA343106992 | TBX19 | c.541G>T (p.Val181Leu) c.338G>T | |
| 1 | g.168293217T>A | CA343106995 | TBX19 | c.542T>A (p.Val181Glu) c.339T>A | |
| 1 | g.168293217T>C | CA343106993 | TBX19 | c.542T>C (p.Val181Ala) c.339T>C | |
| 1 | g.168293217T>G | CA343106994 | TBX19 | c.542T>G (p.Val181Gly) c.339T>G | |
| 1 | g.168293218A>C | CA421716394 | TBX19 | c.543A>C (p.Val181=) c.340A>C | |
| 1 | g.168293218A>G | CA421716395 | TBX19 | c.543A>G (p.Val181=) c.340A>G | gnomAD v4 |
| 1 | g.168293218A>T | CA421716396 | TBX19 | c.543A>T (p.Val181=) c.340A>T | |
| 1 | g.168293219A>C | CA343106996 | TBX19 | c.544A>C (p.Thr182Pro) c.341A>C | |
| 1 | g.168293219A>G | CA343106997 | TBX19 | c.544A>G (p.Thr182Ala) c.341A>G | gnomAD v4 |
| 1 | g.168293219A>T | CA343106998 | TBX19 | c.544A>T (p.Thr182Ser) c.341A>T | |
| 1 | g.168293220C>A | CA343106999 | TBX19 | c.545C>A (p.Thr182Lys) c.342C>A | |
| 1 | g.168293220C>G | CA343107000 | TBX19 | c.545C>G (p.Thr182Arg) c.342C>G | |
| 1 | g.168293220C>T | CA343107001 | TBX19 | c.545C>T (p.Thr182Ile) c.342C>T | |
| 1 | g.168293221A>C | CA421716397 | TBX19 | c.546A>C (p.Thr182=) c.343A>C | COSMIC |
| 1 | g.168293221A>G | CA421716398 | TBX19 | c.546A>G (p.Thr182=) c.343A>G | gnomAD v4 |
| 1 | g.168293221A>T | CA421716399 | TBX19 | c.546A>T (p.Thr182=) c.343A>T | |
| 1 | g.168293222A= | CA1205614154 | TBX19 | c.547A= (p.Asn183=) c.344A= | |
| 1 | g.168293222A>C | CA343107002 | TBX19 | c.547A>C (p.Asn183His) c.344A>C | |
| 1 | g.168293222A>G | CA1230526 | TBX19 | c.547A>G (p.Asn183Asp) c.344A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293222A>T | CA343107003 | TBX19 | c.547A>T (p.Asn183Tyr) c.344A>T | |
| 1 | g.168293223A>C | CA343107004 | TBX19 | c.548A>C (p.Asn183Thr) c.345A>C | |
| 1 | g.168293223A>G | CA343107005 | TBX19 | c.548A>G (p.Asn183Ser) c.345A>G | |
| 1 | g.168293223A>T | CA343107006 | TBX19 | c.548A>T (p.Asn183Ile) c.345A>T | |
| 1 | g.168293224C>A | CA343107008 | TBX19 | c.549C>A (p.Asn183Lys) c.346C>A | |
| 1 | g.168293224C>G | CA343107007 | TBX19 | c.549C>G (p.Asn183Lys) c.346C>G | |
| 1 | g.168293224C>T | CA421716400 | TBX19 | c.549C>T (p.Asn183=) c.346C>T | |
| 1 | g.168293225T>A | CA343107009 | TBX19 | c.550T>A (p.Cys184Ser) c.347T>A | COSMIC |
| 1 | g.168293225T>C | CA343107011 | TBX19 | c.550T>C (p.Cys184Arg) c.347T>C | |
| 1 | g.168293225T>G | CA343107010 | TBX19 | c.550T>G (p.Cys184Gly) c.347T>G | |
| 1 | g.168293226G>A | CA343107012 | TBX19 | c.551G>A (p.Cys184Tyr) c.348G>A | |
| 1 | g.168293226G>C | CA343107013 | TBX19 | c.551G>C (p.Cys184Ser) c.348G>C | |
| 1 | g.168293226G>T | CA343107014 | TBX19 | c.551G>T (p.Cys184Phe) c.348G>T | |
| 1 | g.168293227C>A | CA343107015 | TBX19 | c.552C>A (p.Cys184Ter) c.349C>A | |
| 1 | g.168293227C= | CA1205614155 | TBX19 | c.552C= (p.Cys184=) c.349C= | |
| 1 | g.168293227C>G | CA343107016 | TBX19 | c.552C>G (p.Cys184Trp) c.349C>G | |
| 1 | g.168293227C>T | CA421716401 | TBX19 | c.552C>T (p.Cys184=) c.349C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293228T>A | CA343107017 | TBX19 | c.553T>A (p.Ser185Thr) c.350T>A | gnomAD v4 |
| 1 | g.168293228T>C | CA343107018 | TBX19 | c.553T>C (p.Ser185Pro) c.350T>C | |
| 1 | g.168293228T>G | CA343107019 | TBX19 | c.553T>G (p.Ser185Ala) c.350T>G | |
| 1 | g.168293229C>A | CA343107020 | TBX19 | c.554C>A (p.Ser185Tyr) c.351C>A | |
| 1 | g.168293229C>G | CA343107021 | TBX19 | c.554C>G (p.Ser185Cys) c.351C>G | |
| 1 | g.168293229C>T | CA343107022 | TBX19 | c.554C>T (p.Ser185Phe) c.351C>T | COSMIC |
| 1 | g.168293230C>A | CA421716402 | TBX19 | c.555C>A (p.Ser185=) c.352C>A | |
| 1 | g.168293230C= | CA1149043322 | TBX19 | c.555C= (p.Ser185=) c.352C= | |
| 1 | g.168293230C>G | CA1230527 | TBX19 | c.555C>G (p.Ser185=) c.352C>G | dbSNP ExAC |
| 1 | g.168293230C>T | CA421716403 | TBX19 | c.555C>T (p.Ser185=) c.352C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.168293231T>A | CA343107025 | TBX19 | c.556T>A (p.Phe186Ile) c.353T>A | |
| 1 | g.168293231T>C | CA343107023 | TBX19 | c.556T>C (p.Phe186Leu) c.353T>C | |
| 1 | g.168293231T>G | CA343107024 | TBX19 | c.556T>G (p.Phe186Val) c.353T>G | |
| 1 | g.168293232T>A | CA343107026 | TBX19 | c.557T>A (p.Phe186Tyr) c.354T>A | |
| 1 | g.168293232T>C | CA343107027 | TBX19 | c.557T>C (p.Phe186Ser) c.354T>C | |
| 1 | g.168293232T>G | CA343107028 | TBX19 | c.557T>G (p.Phe186Cys) c.354T>G | |
| 1 | g.168293233C>A | CA343107029 | TBX19 | c.558C>A (p.Phe186Leu) c.355C>A | |
| 1 | g.168293233C>G | CA343107030 | TBX19 | c.558C>G (p.Phe186Leu) c.355C>G | |
| 1 | g.168293233C>T | CA421716404 | TBX19 | c.558C>T (p.Phe186=) c.355C>T | |
| 1 | g.168293234C>A | CA343107031 | TBX19 | c.559C>A (p.Pro187Thr) c.356C>A | |
| 1 | g.168293234C>G | CA343107032 | TBX19 | c.559C>G (p.Pro187Ala) c.356C>G | |
| 1 | g.168293234C>T | CA343107033 | TBX19 | c.559C>T (p.Pro187Ser) c.356C>T | |
| 1 | g.168293235C>A | CA343107034 | TBX19 | c.560C>A (p.Pro187His) c.357C>A | |
| 1 | g.168293235C>G | CA343107035 | TBX19 | c.560C>G (p.Pro187Arg) c.357C>G | |
| 1 | g.168293235C>T | CA343107036 | TBX19 | c.560C>T (p.Pro187Leu) c.357C>T | |
| 1 | g.168293236T>A | CA421716405 | TBX19 | c.561T>A (p.Pro187=) c.358T>A | |
| 1 | g.168293236T>C | CA421716406 | TBX19 | c.561T>C (p.Pro187=) c.358T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293236T>G | CA421716407 | TBX19 | c.561T>G (p.Pro187=) c.358T>G | gnomAD v4 |
| 1 | g.168293236T= | CA1205614156 | TBX19 | c.561T= (p.Pro187=) c.358T= | |
| 1 | g.168293237G>A | CA343107038 | TBX19 | c.562G>A (p.Glu188Lys) c.359G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293237G>C | CA343107039 | TBX19 | c.562G>C (p.Glu188Gln) c.359G>C | |
| 1 | g.168293237G= | CA1205614157 | TBX19 | c.562G= (p.Glu188=) c.359G= | |
| 1 | g.168293237G>T | CA343107037 | TBX19 | c.562G>T (p.Glu188Ter) c.359G>T | gnomAD v4 |
| 1 | g.168293238A>C | CA343107040 | TBX19 | c.563A>C (p.Glu188Ala) c.360A>C | |
| 1 | g.168293238A>G | CA343107041 | TBX19 | c.563A>G (p.Glu188Gly) c.360A>G | |
| 1 | g.168293238A>T | CA343107042 | TBX19 | c.563A>T (p.Glu188Val) c.360A>T | |
| 1 | g.168293239A= | CA1205614158 | TBX19 | c.564A= (p.Glu188=) c.361A= | |
| 1 | g.168293239A>C | CA343107043 | TBX19 | c.564A>C (p.Glu188Asp) c.361A>C | |
| 1 | g.168293239A>G | CA421716408 | TBX19 | c.564A>G (p.Glu188=) c.361A>G | dbSNP gnomAD v2 |
| 1 | g.168293239A>T | CA343107044 | TBX19 | c.564A>T (p.Glu188Asp) c.361A>T | |
| 1 | g.168293240A>C | CA343107045 | TBX19 | c.565A>C (p.Thr189Pro) c.362A>C | |
| 1 | g.168293240A>G | CA343107046 | TBX19 | c.565A>G (p.Thr189Ala) c.362A>G | |
| 1 | g.168293240A>T | CA343107047 | TBX19 | c.565A>T (p.Thr189Ser) c.362A>T | |
| 1 | g.168293241C>A | CA343107048 | TBX19 | c.566C>A (p.Thr189Asn) c.363C>A | |
| 1 | g.168293241C>G | CA343107049 | TBX19 | c.566C>G (p.Thr189Ser) c.363C>G | |
| 1 | g.168293241C>T | CA343107050 | TBX19 | c.566C>T (p.Thr189Ile) c.363C>T | COSMIC |
| 1 | g.168293242C>A | CA421716409 | TBX19 | c.567C>A (p.Thr189=) c.364C>A | gnomAD v4 |
| 1 | g.168293242C>G | CA421716410 | TBX19 | c.567C>G (p.Thr189=) c.364C>G | ClinVar gnomAD v4 |
| 1 | g.168293242C>T | CA421716411 | TBX19 | c.567C>T (p.Thr189=) c.364C>T | COSMIC |
| 1 | g.168293243C>A | CA343107051 | TBX19 | c.568C>A (p.Gln190Lys) c.365C>A | |
| 1 | g.168293243C= | CA1205614159 | TBX19 | c.568C= (p.Gln190=) c.365C= | |
| 1 | g.168293243C>G | CA343107052 | TBX19 | c.568C>G (p.Gln190Glu) c.365C>G | |
| 1 | g.168293243C>T | CA343107053 | TBX19 | c.568C>T (p.Gln190Ter) c.365C>T | ClinVar dbSNP |
| 1 | g.168293244A>C | CA343107056 | TBX19 | c.569A>C (p.Gln190Pro) c.366A>C | |
| 1 | g.168293244A>G | CA343107055 | TBX19 | c.569A>G (p.Gln190Arg) c.366A>G | gnomAD v4 |
| 1 | g.168293244A>T | CA343107054 | TBX19 | c.569A>T (p.Gln190Leu) c.366A>T | |
| 1 | g.168293245G>A | CA421716412 | TBX19 | c.570G>A (p.Gln190=) c.367G>A | |
| 1 | g.168293245G>C | CA343107057 | TBX19 | c.570G>C (p.Gln190His) c.367G>C | |
| 1 | g.168293245G>T | CA343107058 | TBX19 | c.570G>T (p.Gln190His) c.367G>T | |
| 1 | g.168293246T>A | CA31493335 | TBX19 | c.571T>A (p.Phe191Ile) c.368T>A | dbSNP |
| 1 | g.168293246T>C | CA343107059 | TBX19 | c.571T>C (p.Phe191Leu) c.368T>C | COSMIC |
| 1 | g.168293246T>G | CA343107060 | TBX19 | c.571T>G (p.Phe191Val) c.368T>G | |
| 1 | g.168293246T= | CA1205614160 | TBX19 | c.571T= (p.Phe191=) c.368T= | |
| 1 | g.168293247T>A | CA343107061 | TBX19 | c.572T>A (p.Phe191Tyr) c.369T>A | |
| 1 | g.168293247T>C | CA343107062 | TBX19 | c.572T>C (p.Phe191Ser) c.369T>C | |
| 1 | g.168293247T>G | CA343107063 | TBX19 | c.572T>G (p.Phe191Cys) c.369T>G | |
| 1 | g.168293248C>A | CA343107064 | TBX19 | c.573C>A (p.Phe191Leu) c.370C>A | |
| 1 | g.168293248C>G | CA343107065 | TBX19 | c.573C>G (p.Phe191Leu) c.370C>G | |
| 1 | g.168293248C>T | CA421716413 | TBX19 | c.573C>T (p.Phe191=) c.370C>T | |
| 1 | g.168293248_168293251del | CA2586967684 | TBX19 | c.573_576del (p.Phe191LeufsTer3) c.370_373del | |
| 1 | g.168293249A= | CA1205614161 | TBX19 | c.574A= (p.Ile192=) c.371A= | |
| 1 | g.168293249A>C | CA343107066 | TBX19 | c.574A>C (p.Ile192Leu) c.371A>C | |
| 1 | g.168293249A>G | CA343107067 | TBX19 | c.574A>G (p.Ile192Val) c.371A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293249A>T | CA343107068 | TBX19 | c.574A>T (p.Ile192Leu) c.371A>T | |
| 1 | g.168293249_168293252del | CA2649007503 | TBX19 | c.574_577del (p.Ile192ProfsTer2) c.371_374del | gnomAD v4 |
| 1 | g.168293250T>A | CA343107071 | TBX19 | c.575T>A (p.Ile192Lys) c.372T>A | |
| 1 | g.168293250T>C | CA343107070 | TBX19 | c.575T>C (p.Ile192Thr) c.372T>C | |
| 1 | g.168293250T>G | CA343107069 | TBX19 | c.575T>G (p.Ile192Arg) c.372T>G | |
| 1 | g.168293251A>C | CA421716414 | TBX19 | c.576A>C (p.Ile192=) c.373A>C | |
| 1 | g.168293251A>G | CA343107072 | TBX19 | c.576A>G (p.Ile192Met) c.373A>G | |
| 1 | g.168293251A>T | CA421716415 | TBX19 | c.576A>T (p.Ile192=) c.373A>T | |
| 1 | g.168293252G>A | CA343107074 | TBX19 | c.577G>A (p.Ala193Thr) c.374G>A | gnomAD v4 |
| 1 | g.168293252G>C | CA343107073 | TBX19 | c.577G>C (p.Ala193Pro) c.374G>C | |
| 1 | g.168293252G>T | CA343107075 | TBX19 | c.577G>T (p.Ala193Ser) c.374G>T | |
| 1 | g.168293253C>A | CA343107076 | TBX19 | c.578C>A (p.Ala193Asp) c.375C>A | |
| 1 | g.168293253C>G | CA343107078 | TBX19 | c.578C>G (p.Ala193Gly) c.375C>G | |
| 1 | g.168293253C>T | CA343107077 | TBX19 | c.578C>T (p.Ala193Val) c.375C>T | gnomAD v4 |
| 1 | g.168293254C>A | CA421716417 | TBX19 | c.579C>A (p.Ala193=) c.376C>A | |
| 1 | g.168293254C= | CA1144153994 | TBX19 | c.579C= (p.Ala193=) c.376C= | |
| 1 | g.168293254C>G | CA421716416 | TBX19 | c.579C>G (p.Ala193=) c.376C>G | gnomAD v4 |
| 1 | g.168293254C>T | CA1230528 | TBX19 | c.579C>T (p.Ala193=) c.376C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293255G>A | CA1230529 | TBX19 | c.580G>A (p.Val194Met) c.377G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293255G>C | CA343107079 | TBX19 | c.580G>C (p.Val194Leu) c.377G>C | |
| 1 | g.168293255G= | CA1205614162 | TBX19 | c.580G= (p.Val194=) c.377G= | |
| 1 | g.168293255G>T | CA343107080 | TBX19 | c.580G>T (p.Val194Leu) c.377G>T | COSMIC |
| 1 | g.168293256T>A | CA343107081 | TBX19 | c.581T>A (p.Val194Glu) c.378T>A | |
| 1 | g.168293256T>C | CA343107082 | TBX19 | c.581T>C (p.Val194Ala) c.378T>C | |
| 1 | g.168293256T>G | CA343107083 | TBX19 | c.581T>G (p.Val194Gly) c.378T>G | |
| 1 | g.168293257G>A | CA421716418 | TBX19 | c.582G>A (p.Val194=) c.379G>A | dbSNP gnomAD v4 |
| 1 | g.168293257G>C | CA421716419 | TBX19 | c.582G>C (p.Val194=) c.379G>C | |
| 1 | g.168293257G= | CA1205614163 | TBX19 | c.582G= (p.Val194=) c.379G= | |
| 1 | g.168293257G>T | CA421716420 | TBX19 | c.582G>T (p.Val194=) c.379G>T | |
| 1 | g.168293258A>C | CA343107084 | TBX19 | c.583A>C (p.Thr195Pro) c.380A>C | |
| 1 | g.168293258A>G | CA343107085 | TBX19 | c.583A>G (p.Thr195Ala) c.380A>G | |
| 1 | g.168293258A>T | CA343107086 | TBX19 | c.583A>T (p.Thr195Ser) c.380A>T | |
| 1 | g.168293259C>A | CA343107089 | TBX19 | c.584C>A (p.Thr195Asn) c.381C>A | |
| 1 | g.168293259C>G | CA343107088 | TBX19 | c.584C>G (p.Thr195Ser) c.381C>G | |
| 1 | g.168293259C>T | CA343107087 | TBX19 | c.584C>T (p.Thr195Ile) c.381C>T | |
| 1 | g.168293260T>A | CA421716421 | TBX19 | c.585T>A (p.Thr195=) c.382T>A | |
| 1 | g.168293260T>C | CA421716422 | TBX19 | c.585T>C (p.Thr195=) c.382T>C | |
| 1 | g.168293260T>G | CA421716423 | TBX19 | c.585T>G (p.Thr195=) c.382T>G | gnomAD v4 |
| 1 | g.168293261G>A | CA343107090 | TBX19 | c.586G>A (p.Ala196Thr) c.383G>A | |
| 1 | g.168293261G>C | CA343107091 | TBX19 | c.586G>C (p.Ala196Pro) c.383G>C | gnomAD v4 |
| 1 | g.168293261G>T | CA343107092 | TBX19 | c.586G>T (p.Ala196Ser) c.383G>T | |
| 1 | g.168293262C>A | CA343107093 | TBX19 | c.587C>A (p.Ala196Asp) c.384C>A | |
| 1 | g.168293262C>G | CA343107094 | TBX19 | c.587C>G (p.Ala196Gly) c.384C>G | |
| 1 | g.168293262C>T | CA343107095 | TBX19 | c.587C>T (p.Ala196Val) c.384C>T | |
| 1 | g.168293263C>A | CA421716424 | TBX19 | c.588C>A (p.Ala196=) c.385C>A | |
| 1 | g.168293263C>G | CA421716425 | TBX19 | c.588C>G (p.Ala196=) c.385C>G | |
| 1 | g.168293263C>T | CA421716426 | TBX19 | c.588C>T (p.Ala196=) c.385C>T | |
| 1 | g.168293264T>A | CA343107096 | TBX19 | c.589T>A (p.Tyr197Asn) c.386T>A | |
| 1 | g.168293264T>C | CA343107097 | TBX19 | c.589T>C (p.Tyr197His) c.386T>C | |
| 1 | g.168293264T>G | CA343107098 | TBX19 | c.589T>G (p.Tyr197Asp) c.386T>G | |
| 1 | g.168293265A>C | CA343107099 | TBX19 | c.590A>C (p.Tyr197Ser) c.387A>C | |
| 1 | g.168293265A>G | CA343107100 | TBX19 | c.590A>G (p.Tyr197Cys) c.387A>G | |
| 1 | g.168293265A>T | CA343107101 | TBX19 | c.590A>T (p.Tyr197Phe) c.387A>T | |
| 1 | g.168293266T>A | CA343107103 | TBX19 | c.591T>A (p.Tyr197Ter) c.388T>A | |
| 1 | g.168293266T>C | CA421716427 | TBX19 | c.591T>C (p.Tyr197=) c.388T>C | |
| 1 | g.168293266T>G | CA343107102 | TBX19 | c.591T>G (p.Tyr197Ter) c.388T>G | |
| 1 | g.168293267C>A | CA343107104 | TBX19 | c.592C>A (p.Gln198Lys) c.389C>A | |
| 1 | g.168293267C>G | CA343107105 | TBX19 | c.592C>G (p.Gln198Glu) c.389C>G | |
| 1 | g.168293267C>T | CA343107106 | TBX19 | c.592C>T (p.Gln198Ter) c.389C>T | COSMIC |
| 1 | g.168293268A>C | CA343107107 | TBX19 | c.593A>C (p.Gln198Pro) c.390A>C | |
| 1 | g.168293268A>G | CA343107108 | TBX19 | c.593A>G (p.Gln198Arg) c.390A>G | |
| 1 | g.168293268A>T | CA343107109 | TBX19 | c.593A>T (p.Gln198Leu) c.390A>T | |
| 1 | g.168293269G>A | CA421716428 | TBX19 | c.594G>A (p.Gln198=) c.391G>A | |
| 1 | g.168293269G>C | CA343107111 | TBX19 | c.594G>C (p.Gln198His) c.391G>C | |
| 1 | g.168293269G>T | CA343107110 | TBX19 | c.594G>T (p.Gln198His) c.391G>T | |
| 1 | g.168293270A>C | CA343107112 | TBX19 | c.595A>C (p.Asn199His) c.392A>C | |
| 1 | g.168293270A>G | CA343107113 | TBX19 | c.595A>G (p.Asn199Asp) c.392A>G | |
| 1 | g.168293270A>T | CA343107114 | TBX19 | c.595A>T (p.Asn199Tyr) c.392A>T | |
| 1 | g.168293271A>C | CA343107115 | TBX19 | c.596A>C (p.Asn199Thr) c.393A>C | gnomAD v4 |
| 1 | g.168293271A>G | CA343107116 | TBX19 | c.596A>G (p.Asn199Ser) c.393A>G | |
| 1 | g.168293271A>T | CA343107117 | TBX19 | c.596A>T (p.Asn199Ile) c.393A>T | gnomAD v4 |
| 1 | g.168293272T>A | CA343107118 | TBX19 | c.597T>A (p.Asn199Lys) c.394T>A | |
| 1 | g.168293272T>C | CA1230530 | TBX19 | c.597T>C (p.Asn199=) c.394T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293272T>G | CA343107119 | TBX19 | c.597T>G (p.Asn199Lys) c.394T>G | |
| 1 | g.168293272T= | CA1141925793 | TBX19 | c.597T= (p.Asn199=) c.394T= | |
| 1 | g.168293272_168293275delinsTGAG | CA1205614164 | TBX19 | c.597_600delinsTGAG (p.Asn199=) c.394_397delinsTGAG | |
| 1 | g.168293273G>A | CA343107120 | TBX19 | c.598G>A (p.Glu200Lys) c.395G>A | |
| 1 | g.168293273G>C | CA343107121 | TBX19 | c.598G>C (p.Glu200Gln) c.395G>C | |
| 1 | g.168293273G>T | CA343107122 | TBX19 | c.598G>T (p.Glu200Ter) c.395G>T | |
| 1 | g.168293277_168293279del | CA527130756 | TBX19 | c.602_603+1del c.399_400+1del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293274A>C | CA343107123 | TBX19 | c.599A>C (p.Glu200Ala) c.396A>C | |
| 1 | g.168293274A>G | CA343107124 | TBX19 | c.599A>G (p.Glu200Gly) c.396A>G | |
| 1 | g.168293274A>T | CA343107125 | TBX19 | c.599A>T (p.Glu200Val) c.396A>T | gnomAD v4 |
| 1 | g.168293275G>A | CA421716429 | TBX19 | c.600G>A (p.Glu200=) c.397G>A | COSMIC |
| 1 | g.168293275G>C | CA343107126 | TBX19 | c.600G>C (p.Glu200Asp) c.397G>C | |
| 1 | g.168293275G>T | CA343107127 | TBX19 | c.600G>T (p.Glu200Asp) c.397G>T | |
| 1 | g.168293276G>A | CA343107128 | TBX19 | c.601G>A (p.Glu201Lys) c.398G>A | |
| 1 | g.168293276G>C | CA343107129 | TBX19 | c.601G>C (p.Glu201Gln) c.398G>C | |
| 1 | g.168293276G= | CA1205614165 | TBX19 | c.601G= (p.Glu201=) c.398G= | |
| 1 | g.168293276G>T | CA343107130 | TBX19 | c.601G>T (p.Glu201Ter) c.398G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293277A>C | CA343107132 | TBX19 | c.602A>C (p.Glu201Ala) c.399A>C | |
| 1 | g.168293277A>G | CA343107133 | TBX19 | c.602A>G (p.Glu201Gly) c.399A>G | gnomAD v3 gnomAD v4 |
| 1 | g.168293277A>T | CA343107131 | TBX19 | c.602A>T (p.Glu201Val) c.399A>T | gnomAD v4 |
| 1 | g.168293278G>A | CA421716430 | TBX19 | c.603G>A (p.Glu201=) c.400G>A | dbSNP |
| 1 | g.168293278G>C | CA343107134 | TBX19 | c.603G>C (p.Glu201Asp) c.400G>C | dbSNP |
| 1 | g.168293278G= | CA1205614166 | TBX19 | c.603G= (p.Glu201=) c.400G= | |
| 1 | g.168293278G>T | CA343107135 | TBX19 | c.603G>T (p.Glu201Asp) c.400G>T | |
| 1 | g.168293279G>A | CA343107136 | TBX19 | c.603+1G>A (n.603+1G>A) c.400+1G>A | |
| 1 | g.168293279G>C | CA343107137 | TBX19 | c.603+1G>C (n.603+1G>C) c.400+1G>C | |
| 1 | g.168293279G>T | CA343107138 | TBX19 | c.603+1G>T (n.603+1G>T) c.400+1G>T | |
| 1 | g.168293280T>A | CA343107139 | TBX19 | c.603+2T>A (n.603+2T>A) c.400+2T>A | |
| 1 | g.168293280T>C | CA343107140 | TBX19 | c.603+2T>C (n.603+2T>C) c.400+2T>C | |
| 1 | g.168293280T>G | CA343107141 | TBX19 | c.603+2T>G (n.603+2T>G) c.400+2T>G | |
| 1 | g.168293281A= | CA1205614168 | TBX19 | c.603+3A= (n.603+3A=) c.400+3A= | |
| 1 | g.168293281A>C | CA2649007505 | TBX19 | c.603+3A>C (n.603+3A>C) c.400+3A>C | gnomAD v4 |
| 1 | g.168293281A>G | CA1008886571 | TBX19 | c.603+3A>G (n.603+3A>G) c.400+3A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293281A>T | CA2649007506 | TBX19 | c.603+3A>T (n.603+3A>T) c.400+3A>T | gnomAD v4 |
| 1 | g.168293281_168293282del | CA2649007504 | TBX19 | c.603+3_603+4del (n.603+3_603+4del) c.400+3_400+4del | gnomAD v4 |
| 1 | g.168293281_168293283delinsAAG | CA1205614167 | TBX19 | c.603+3_603+5delinsAAG (n.603+3_603+5delinsAAG) c.400+3_400+5delinsAAG | |
| 1 | g.168293282A= | CA1205614170 | TBX19 | c.603+4A= (n.603+4A=) c.400+4A= | |
| 1 | g.168293282A>G | CA2649007507 | TBX19 | c.603+4A>G (n.603+4A>G) c.400+4A>G | gnomAD v4 |
| 1 | g.168293282A>T | CA2649007508 | TBX19 | c.603+4A>T (n.603+4A>T) c.400+4A>T | gnomAD v4 |
| 1 | g.168293282_168293285delinsAGAG | CA1148467082 | TBX19 | c.603+4_603+7delinsAGAG (n.603+4_603+7delinsAGAG) c.400+4_400+7delinsAGAG | |
| 1 | g.168293284_168293285dup | CA1230531 | TBX19 | c.603+6_603+7dup (n.603+6_603+7dup) c.400+6_400+7dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293284_168293285del | CA1205614171 | TBX19 | c.603+6_603+7del (n.603+6_603+7del) c.400+6_400+7del | dbSNP gnomAD v4 |
| 1 | g.168293282_168293290delinsAGAGTGTGT | CA1205614169 | TBX19 | c.603+4_603+12delinsAGAGTGTGT (n.603+4_603+12delinsAGAGTGTGT) c.400+4_400+12delinsAGAGTGTGT | |
| 1 | g.168293282_168293283insCAGTGT | CA2649007511 | TBX19 | c.603+4_603+5insCAGTGT (n.603+4_603+5insCAGTGT) c.400+4_400+5insCAGTGT | gnomAD v4 |
| 1 | g.168293283G>C | CA2574084060 | TBX19 | c.603+5G>C (n.603+5G>C) c.400+5G>C | |
| 1 | g.168293283_168293284insTG | CA890800434 | TBX19 | c.603+5_603+6insTG (n.603+5_603+6insTG) c.400+5_400+6insTG | dbSNP gnomAD v4 |
| 1 | g.168293283_168293284insTGTG | CA2649007512 | TBX19 | c.603+5_603+6insTGTG (n.603+5_603+6insTGTG) c.400+5_400+6insTGTG | gnomAD v4 |
| 1 | g.168293283_168293284insTGTGTG | CA2574084062 | TBX19 | c.603+5_603+6insTGTGTG (n.603+5_603+6insTGTGTG) c.400+5_400+6insTGTGTG | |
| 1 | g.168293283_168293284delinsGA | CA1205614173 | TBX19 | c.603+5_603+6delinsGA (n.603+5_603+6delinsGA) c.400+5_400+6delinsGA | |
| 1 | g.168293284_168293287dup | CA2649007510 | TBX19 | c.603+6_603+9dup (n.603+6_603+9dup) c.400+6_400+9dup | gnomAD v4 |
| 1 | g.168293284_168293287del | CA2574084061 | TBX19 | c.603+6_603+9del (n.603+6_603+9del) c.400+6_400+9del | gnomAD v4 |
| 1 | g.168293284_168293289del | CA2649007509 | TBX19 | c.603+6_603+11del (n.603+6_603+11del) c.400+6_400+11del | gnomAD v4 |
| 1 | g.168293284_168293291dup | CA1230532 | TBX19 | c.603+6_603+13dup (n.603+6_603+13dup) c.400+6_400+13dup | dbSNP ExAC |
| 1 | g.168293284_168293291del | CA1205614172 | TBX19 | c.603+6_603+13del (n.603+6_603+13del) c.400+6_400+13del | dbSNP |
| 1 | g.168293284_168293293del | CA1008886579 | TBX19 | c.603+6_603+15del (n.603+6_603+15del) c.400+6_400+15del | gnomAD v3 gnomAD v4 |
| 1 | g.168293284A= | CA1205614174 | TBX19 | c.603+6A= (n.603+6A=) c.400+6A= | |
| 1 | g.168293284A>T | CA890800435 | TBX19 | c.603+6A>T (n.603+6A>T) c.400+6A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293284delinsGTGTTTGT | CA1139656410 | TBX19 | c.603+6delinsGTGTTTGT (n.603+6delinsGTGTTTGT) c.400+6delinsGTGTTTGT | ClinVar dbSNP |
| 1 | g.168293284_168293286delinsAGT | CA2497029055 | TBX19 | c.603+6_603+8delinsAGT (n.603+6_603+8delinsAGT) c.400+6_400+8delinsAGT | |
| 1 | g.168293284_168293308delinsAGTGTGTGTGTGTGTGTGTGTGTGT | CA1205614175 | TBX19 | c.603+6_603+30delinsAGTGTGTGTGTGTGTGTGTGTGTGT (n.603+6_603+30delinsAGTGTGTGTGTGTGTGTGTGTGTGT) c.400+6_400+30delinsAGTGTGTGTGTGTGTGTGTGTGTGT | |
| 1 | g.168293284_168293285insAT | CA2574084064 | TBX19 | c.603+6_603+7insAT (n.603+6_603+7insAT) c.400+6_400+7insAT | |
| 1 | g.168293284_168293285insTT | CA2649007515 | TBX19 | c.603+6_603+7insTT (n.603+6_603+7insTT) c.400+6_400+7insTT | gnomAD v4 |
| 1 | g.168293284_168293285insCTGTGT | CA10608603 | TBX19 | c.603+6_603+7insCTGTGT (n.603+6_603+7insCTGTGT) c.400+6_400+7insCTGTGT | ClinVar dbSNP |
| 1 | g.168293285G>A | CA1230540 | TBX19 | c.603+7G>A (n.603+7G>A) c.400+7G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293285G= | CA1147099447 | TBX19 | c.603+7G= (n.603+7G=) c.400+7G= | |
| 1 | g.168293285G>T | CA2574084063 | TBX19 | c.603+7G>T (n.603+7G>T) c.400+7G>T | |
| 1 | g.168293285_168293286insGG | CA1008886654 | TBX19 | c.603+7_603+8insGG (n.603+7_603+8insGG) c.400+7_400+8insGG | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293285_168293286insAGTG | CA1205614176 | TBX19 | c.603+7_603+8insAGTG (n.603+7_603+8insAGTG) c.400+7_400+8insAGTG | dbSNP gnomAD v4 |
| 1 | g.168293285_168293286insAGTGTG | CA1008886645 | TBX19 | c.603+7_603+8insAGTGTG (n.603+7_603+8insAGTGTG) c.400+7_400+8insAGTGTG | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293285_168293286insCGTGTG | CA1008886648 | TBX19 | c.603+7_603+8insCGTGTG (n.603+7_603+8insCGTGTG) c.400+7_400+8insCGTGTG | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293285_168293288delinsGTGT | CA1148412760 | TBX19 | c.603+7_603+10delinsGTGT (n.603+7_603+10delinsGTGT) c.400+7_400+10delinsGTGT | |
| 1 | g.168293288_168293289insTTGTGT | CA1230538 | TBX19 | c.603+10_603+11insTTGTGT (n.603+10_603+11insTTGTGT) c.400+10_400+11insTTGTGT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGT | CA890800513 | TBX19 | c.603+10_603+11insTTGTGTGT (n.603+10_603+11insTTGTGTGT) c.400+10_400+11insTTGTGTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGT | CA890800519 | TBX19 | c.603+10_603+11insTTGTGTGTGT (n.603+10_603+11insTTGTGTGTGT) c.400+10_400+11insTTGTGTGTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGTGT | CA890800520 | TBX19 | c.603+10_603+11insTTGTGTGTGTGT (n.603+10_603+11insTTGTGTGTGTGT) c.400+10_400+11insTTGTGTGTGTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGTGTGT | CA1008886643 | TBX19 | c.603+10_603+11insTTGTGTGTGTGTGT (n.603+10_603+11insTTGTGTGTGTGTGT) c.400+10_400+11insTTGTGTGTGTGTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGTGTGTGT | CA890800537 | TBX19 | c.603+10_603+11insTTGTGTGTGTGTGTGT (n.603+10_603+11insTTGTGTGTGTGTGTGT) c.400+10_400+11insTTGTGTGTGTGTGTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGTGTGTGTGTGT | CA2649007513 | TBX19 | c.603+10_603+11insTTGTGTGTGTGTGTGTGTGT (n.603+10_603+11insTTGTGTGTGTGTGTGTGTGT) c.400+10_400+11insTTGTGTGTGTGTGTGTGTGT | gnomAD v4 |
| 1 | g.168293288_168293289insTTGTGTGTGTGTGTGTGTGTGT | CA2649007514 | TBX19 | c.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT (n.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT) c.400+10_400+11insTTGTGTGTGTGTGTGTGTGTGT | gnomAD v4 |
| 1 | g.168293285_168293326delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT | CA1140650685 | TBX19 | c.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT (n.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT) c.400+7_400+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT | |
| 1 | g.168293325_168293326dup | CA1230533 | TBX19 | c.603+47_603+48dup (n.603+47_603+48dup) c.400+47_400+48dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293323_168293326dup | CA1230534 | TBX19 | c.603+45_603+48dup (n.603+45_603+48dup) c.400+45_400+48dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293321_168293326dup | CA1230535 | TBX19 | c.603+43_603+48dup (n.603+43_603+48dup) c.400+43_400+48dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293319_168293326dup | CA10608661 | TBX19 | c.603+41_603+48dup (n.603+41_603+48dup) c.400+41_400+48dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293317_168293326dup | CA890800508 | TBX19 | c.603+39_603+48dup (n.603+39_603+48dup) c.400+39_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293315_168293326dup | CA890800512 | TBX19 | c.603+37_603+48dup (n.603+37_603+48dup) c.400+37_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293313_168293326dup | CA1008886674 | TBX19 | c.603+35_603+48dup (n.603+35_603+48dup) c.400+35_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293311_168293326dup | CA1008886668 | TBX19 | c.603+33_603+48dup (n.603+33_603+48dup) c.400+33_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293309_168293326dup | CA1008886673 | TBX19 | c.603+31_603+48dup (n.603+31_603+48dup) c.400+31_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293307_168293326dup | CA1008886665 | TBX19 | c.603+29_603+48dup (n.603+29_603+48dup) c.400+29_400+48dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293325_168293326del | CA1230536 | TBX19 | c.603+47_603+48del (n.603+47_603+48del) c.400+47_400+48del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293323_168293326del | CA1230537 | TBX19 | c.603+45_603+48del (n.603+45_603+48del) c.400+45_400+48del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293321_168293326del | CA10608662 | TBX19 | c.603+43_603+48del (n.603+43_603+48del) c.400+43_400+48del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293319_168293326del | CA890800553 | TBX19 | c.603+41_603+48del (n.603+41_603+48del) c.400+41_400+48del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293317_168293326del | CA890800555 | TBX19 | c.603+39_603+48del (n.603+39_603+48del) c.400+39_400+48del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293315_168293326del | CA890800558 | TBX19 | c.603+37_603+48del (n.603+37_603+48del) c.400+37_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293313_168293326del | CA890800567 | TBX19 | c.603+35_603+48del (n.603+35_603+48del) c.400+35_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293311_168293326del | CA1008886631 | TBX19 | c.603+33_603+48del (n.603+33_603+48del) c.400+33_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293309_168293326del | CA890800571 | TBX19 | c.603+31_603+48del (n.603+31_603+48del) c.400+31_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293307_168293326del | CA890800578 | TBX19 | c.603+29_603+48del (n.603+29_603+48del) c.400+29_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293305_168293326del | CA890800579 | TBX19 | c.603+27_603+48del (n.603+27_603+48del) c.400+27_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293303_168293326del | CA890800580 | TBX19 | c.603+25_603+48del (n.603+25_603+48del) c.400+25_400+48del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293301_168293326del | CA1008886626 | TBX19 | c.603+23_603+48del (n.603+23_603+48del) c.400+23_400+48del | gnomAD v3 gnomAD v4 |
| 1 | g.168293285_168293286insGT | CA31493445 | TBX19 | c.603+7_603+8insGT (n.603+7_603+8insGT) c.400+7_400+8insGT | |
| 1 | g.168293286T>A | CA527130757 | TBX19 | c.603+8T>A (n.603+8T>A) c.400+8T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293286T>C | CA2581723584 | TBX19 | c.603+8T>C (n.603+8T>C) c.400+8T>C | |
| 1 | g.168293286T>G | CA2535704638 | TBX19 | c.603+8T>G (n.603+8T>G) c.400+8T>G | |
| 1 | g.168293286T= | CA1140767003 | TBX19 | c.603+8T= (n.603+8T=) c.400+8T= | |
| 1 | g.168293286_168293287insTT | CA31493442 | TBX19 | c.603+8_603+9insTT (n.603+8_603+9insTT) c.400+8_400+9insTT | dbSNP |
| 1 | g.168293287_168293288insGTTG | CA2649007516 | TBX19 | c.603+9_603+10insGTTG (n.603+9_603+10insGTTG) c.400+9_400+10insGTTG | gnomAD v4 |
| 1 | g.168293286_168293288delinsTGT | CA1140801418 | TBX19 | c.603+8_603+10delinsTGT (n.603+8_603+10delinsTGT) c.400+8_400+10delinsTGT | |
| 1 | g.168293288_168293289insCTGT | CA1230541 | TBX19 | c.603+10_603+11insCTGT (n.603+10_603+11insCTGT) c.400+10_400+11insCTGT | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.168293288_168293289insTTGT | CA1230539 | TBX19 | c.603+10_603+11insTTGT (n.603+10_603+11insTTGT) c.400+10_400+11insTTGT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293288_168293289insTTGTGTTTGT | CA527130758 | TBX19 | c.603+10_603+11insTTGTGTTTGT (n.603+10_603+11insTTGTGTTTGT) c.400+10_400+11insTTGTGTTTGT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293287G>A | CA2649007517 | TBX19 | c.603+9G>A (n.603+9G>A) c.400+9G>A | gnomAD v4 |
| 1 | g.168293287G= | CA1205614177 | TBX19 | c.603+9G= (n.603+9G=) c.400+9G= | |
| 1 | g.168293287G>T | CA2574084065 | TBX19 | c.603+9G>T (n.603+9G>T) c.400+9G>T | |
| 1 | g.168293287_168293288insAG | CA527130759 | TBX19 | c.603+9_603+10insAG (n.603+9_603+10insAG) c.400+9_400+10insAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293287_168293288insGG | CA2746547401 | TBX19 | c.603+9_603+10insGG (n.603+9_603+10insGG) c.400+9_400+10insGG | |
| 1 | g.168293287_168293288insGTT | CA645520095 | TBX19 | c.603+9_603+10insGTT (n.603+9_603+10insGTT) c.400+9_400+10insGTT | COSMIC |
| 1 | g.168293288T>A | CA527130761 | TBX19 | c.603+10T>A (n.603+10T>A) c.400+10T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293288T= | CA1143946592 | TBX19 | c.603+10T= (n.603+10T=) c.400+10T= | |
| 1 | g.168293288_168293289insTT | CA1230542 | TBX19 | c.603+10_603+11insTT (n.603+10_603+11insTT) c.400+10_400+11insTT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293288_168293289insTTTT | CA916334012 | TBX19 | c.603+10_603+11insTTTT (n.603+10_603+11insTTTT) c.400+10_400+11insTTTT | dbSNP |
| 1 | g.168293288_168293289insTTGTGTGTTT | CA1230543 | TBX19 | c.603+10_603+11insTTGTGTGTTT (n.603+10_603+11insTTGTGTGTTT) c.400+10_400+11insTTGTGTGTTT | dbSNP ExAC |
| 1 | g.168293288_168293289delinsTG | CA1205614178 | TBX19 | c.603+10_603+11delinsTG (n.603+10_603+11delinsTG) c.400+10_400+11delinsTG | |
| 1 | g.168293290_168293291insTTGT | CA527130760 | TBX19 | c.603+12_603+13insTTGT (n.603+12_603+13insTTGT) c.400+12_400+13insTTGT | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293292_168293293insTTGTGT | CA2520469471 | TBX19 | c.603+14_603+15insTTGTGT (n.603+14_603+15insTTGTGT) c.400+14_400+15insTTGTGT | |
| 1 | g.168293288_168293295delinsTGTGTGTG | CA1205614179 | TBX19 | c.603+10_603+17delinsTGTGTGTG (n.603+10_603+17delinsTGTGTGTG) c.400+10_400+17delinsTGTGTGTG | |
| 1 | g.168293288_168293289insTTGG | CA31493486 | TBX19 | c.603+10_603+11insTTGG (n.603+10_603+11insTTGG) c.400+10_400+11insTTGG | dbSNP |
| 1 | g.168293289del | CA1230544 | TBX19 | c.603+11del (n.603+11del) c.400+11del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293289G>A | CA2581723585 | TBX19 | c.603+11G>A (n.603+11G>A) c.400+11G>A | gnomAD v4 |
| 1 | g.168293289G>C | CA2581723586 | TBX19 | c.603+11G>C (n.603+11G>C) c.400+11G>C | |
| 1 | g.168293289G= | CA1140358419 | TBX19 | c.603+11G= (n.603+11G=) c.400+11G= | |
| 1 | g.168293289G>T | CA1230545 | TBX19 | c.603+11G>T (n.603+11G>T) c.400+11G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293292insAGTG | CA2649007518 | TBX19 | c.603+13_603+14insAGTG (n.603+13_603+14insAGTG) c.400+13_400+14insAGTG | gnomAD v4 |
| 1 | g.168293289_168293295delinsT | CA31493488 | TBX19 | c.603+11_603+17delinsT (n.603+11_603+17delinsT) c.400+11_400+17delinsT | dbSNP |
| 1 | g.168293290T>A | CA2649007520 | TBX19 | c.603+12T>A (n.603+12T>A) c.400+12T>A | gnomAD v4 |
| 1 | g.168293290T>C | CA1008886705 | TBX19 | c.603+12T>C (n.603+12T>C) c.400+12T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293290T= | CA1205614182 | TBX19 | c.603+12T= (n.603+12T=) c.400+12T= | |
| 1 | g.168293290_168293291insAT | CA2649007519 | TBX19 | c.603+12_603+13insAT (n.603+12_603+13insAT) c.400+12_400+13insAT | gnomAD v4 |
| 1 | g.168293290_168293291insTT | CA1230546 | TBX19 | c.603+12_603+13insTT (n.603+12_603+13insTT) c.400+12_400+13insTT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293290_168293291delinsTG | CA1205614186 | TBX19 | c.603+12_603+13delinsTG (n.603+12_603+13delinsTG) c.400+12_400+13delinsTG | |
| 1 | g.168293292_168293293insTTGT | CA890800600 | TBX19 | c.603+14_603+15insTTGT (n.603+14_603+15insTTGT) c.400+14_400+15insTTGT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293290_168293293delinsTGTG | CA1205614189 | TBX19 | c.603+12_603+15delinsTGTG (n.603+12_603+15delinsTGTG) c.400+12_400+15delinsTGTG | |
| 1 | g.168293294_168293295insTTGTGT | CA2574084066 | TBX19 | c.603+16_603+17insTTGTGT (n.603+16_603+17insTTGTGT) c.400+16_400+17insTTGTGT | gnomAD v4 |
| 1 | g.168293290_168293295delinsTGTGTG | CA1205614187 | TBX19 | c.603+12_603+17delinsTGTGTG (n.603+12_603+17delinsTGTGTG) c.400+12_400+17delinsTGTGTG | |
| 1 | g.168293290_168293297delinsTGTGTGTG | CA1205614185 | TBX19 | c.603+12_603+19delinsTGTGTGTG (n.603+12_603+19delinsTGTGTGTG) c.400+12_400+19delinsTGTGTGTG | |
| 1 | g.168293290_168293299delinsTGTGTGTGTG | CA1205614188 | TBX19 | c.603+12_603+21delinsTGTGTGTGTG (n.603+12_603+21delinsTGTGTGTGTG) c.400+12_400+21delinsTGTGTGTGTG | |
| 1 | g.168293290_168293301delinsTGTGTGTGTGTG | CA1205614183 | TBX19 | c.603+12_603+23delinsTGTGTGTGTGTG (n.603+12_603+23delinsTGTGTGTGTGTG) c.400+12_400+23delinsTGTGTGTGTGTG | |
| 1 | g.168293290_168293305delinsTGTGTGTGTGTGTGTG | CA1205614181 | TBX19 | c.603+12_603+27delinsTGTGTGTGTGTGTGTG (n.603+12_603+27delinsTGTGTGTGTGTGTGTG) c.400+12_400+27delinsTGTGTGTGTGTGTGTG | |
| 1 | g.168293290_168293307delinsTGTGTGTGTGTGTGTGTG | CA1205614180 | TBX19 | c.603+12_603+29delinsTGTGTGTGTGTGTGTGTG (n.603+12_603+29delinsTGTGTGTGTGTGTGTGTG) c.400+12_400+29delinsTGTGTGTGTGTGTGTGTG | |
| 1 | g.168293290_168293309delinsTGTGTGTGTGTGTGTGTGTG | CA1205614184 | TBX19 | c.603+12_603+31delinsTGTGTGTGTGTGTGTGTGTG (n.603+12_603+31delinsTGTGTGTGTGTGTGTGTGTG) c.400+12_400+31delinsTGTGTGTGTGTGTGTGTGTG | |
| 1 | g.168293291del | CA1230549 | TBX19 | c.603+13del (n.603+13del) c.400+13del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291G= | CA1205614190 | TBX19 | c.603+13G= (n.603+13G=) c.400+13G= | |
| 1 | g.168293291G>T | CA1230553 | TBX19 | c.603+13G>T (n.603+13G>T) c.400+13G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293291_168293292insAG | CA527130762 | TBX19 | c.603+13_603+14insAG (n.603+13_603+14insAG) c.400+13_400+14insAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293293del | CA1230550 | TBX19 | c.603+13_603+15del (n.603+13_603+15del) c.400+13_400+15del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293293_168293294insGGTG | CA31493506 | TBX19 | c.603+15_603+16insGGTG (n.603+15_603+16insGGTG) c.400+15_400+16insGGTG | dbSNP |
| 1 | g.168293291_168293295del | CA1230548 | TBX19 | c.603+13_603+17del (n.603+13_603+17del) c.400+13_400+17del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293297del | CA1230547 | TBX19 | c.603+13_603+19del (n.603+13_603+19del) c.400+13_400+19del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293299del | CA1230551 | TBX19 | c.603+13_603+21del (n.603+13_603+21del) c.400+13_400+21del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293301del | CA1230552 | TBX19 | c.603+13_603+23del (n.603+13_603+23del) c.400+13_400+23del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293303del | CA1008886734 | TBX19 | c.603+13_603+25del (n.603+13_603+25del) c.400+13_400+25del | gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293305del | CA1008886731 | TBX19 | c.603+13_603+27del (n.603+13_603+27del) c.400+13_400+27del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293307del | CA1008886728 | TBX19 | c.603+13_603+29del (n.603+13_603+29del) c.400+13_400+29del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293309del | CA1008886723 | TBX19 | c.603+13_603+31del (n.603+13_603+31del) c.400+13_400+31del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293291_168293313del | CA2531561360 | TBX19 | c.603+13_603+35del (n.603+13_603+35del) c.400+13_400+35del | |
| 1 | g.168293292T>A | CA527130764 | TBX19 | c.603+14T>A (n.603+14T>A) c.400+14T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293292T= | CA1205614191 | TBX19 | c.603+14T= (n.603+14T=) c.400+14T= | |
| 1 | g.168293292_168293293insTT | CA890800617 | TBX19 | c.603+14_603+15insTT (n.603+14_603+15insTT) c.400+14_400+15insTT | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293294_168293295insTTGT | CA527130763 | TBX19 | c.603+16_603+17insTTGT (n.603+16_603+17insTTGT) c.400+16_400+17insTTGT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293293del | CA2649007521 | TBX19 | c.603+15del (n.603+15del) c.400+15del | gnomAD v4 |
| 1 | g.168293293G>A | CA2740195853 | TBX19 | c.603+15G>A (n.603+15G>A) c.400+15G>A | |
| 1 | g.168293293G= | CA1205614192 | TBX19 | c.603+15G= (n.603+15G=) c.400+15G= | |
| 1 | g.168293293G>T | CA10608217 | TBX19 | c.603+15G>T (n.603+15G>T) c.400+15G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293293_168293294insCG | CA2740195852 | TBX19 | c.603+15_603+16insCG (n.603+15_603+16insCG) c.400+15_400+16insCG | |
| 1 | g.168293294T>A | CA2649007523 | TBX19 | c.603+16T>A (n.603+16T>A) c.400+16T>A | gnomAD v4 |
| 1 | g.168293294T>G | CA2740195854 | TBX19 | c.603+16T>G (n.603+16T>G) c.400+16T>G | |
| 1 | g.168293294_168293295insTT | CA2649007522 | TBX19 | c.603+16_603+17insTT (n.603+16_603+17insTT) c.400+16_400+17insTT | gnomAD v4 |