Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.168293295del | CA2746547402 | TBX19 | c.603+17del (n.603+17del) c.400+17del | |
1 | g.168293295G= | CA1205614193 | TBX19 | c.603+17G= (n.603+17G=) c.400+17G= | |
1 | g.168293295G>T | CA1230554 | TBX19 | c.603+17G>T (n.603+17G>T) c.400+17G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.168293296T>A | CA527130765 | TBX19 | c.603+18T>A (n.603+18T>A) c.400+18T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293296T>C | CA2649007525 | TBX19 | c.603+18T>C (n.603+18T>C) c.400+18T>C | gnomAD v4 |
1 | g.168293296T>G | CA2649007526 | TBX19 | c.603+18T>G (n.603+18T>G) c.400+18T>G | gnomAD v4 |
1 | g.168293296T= | CA1205614194 | TBX19 | c.603+18T= (n.603+18T=) c.400+18T= | |
1 | g.168293306_168293307insTTGTGTGTGTGT | CA2649007524 | TBX19 | c.603+28_603+29insTTGTGTGTGTGT (n.603+28_603+29insTTGTGTGTGTGT) c.400+28_400+29insTTGTGTGTGTGT | gnomAD v4 |
1 | g.168293297G>A | CA2649007527 | TBX19 | c.603+19G>A (n.603+19G>A) c.400+19G>A | gnomAD v4 |
1 | g.168293297G= | CA1205614196 | TBX19 | c.603+19G= (n.603+19G=) c.400+19G= | |
1 | g.168293297G>T | CA31493532 | TBX19 | c.603+19G>T (n.603+19G>T) c.400+19G>T | ClinVar dbSNP gnomAD v4 |
1 | g.168293297_168293298insAG | CA1205614195 | TBX19 | c.603+19_603+20insAG (n.603+19_603+20insAG) c.400+19_400+20insAG | dbSNP |
1 | g.168293298T>A | CA2649007529 | TBX19 | c.603+20T>A (n.603+20T>A) c.400+20T>A | gnomAD v4 |
1 | g.168293298T>C | CA2649007530 | TBX19 | c.603+20T>C (n.603+20T>C) c.400+20T>C | gnomAD v4 |
1 | g.168293298_168293299insAT | CA527130766 | TBX19 | c.603+20_603+21insAT (n.603+20_603+21insAT) c.400+20_400+21insAT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293298_168293299insTT | CA2649007528 | TBX19 | c.603+20_603+21insTT (n.603+20_603+21insTT) c.400+20_400+21insTT | gnomAD v4 |
1 | g.168293300_168293301insATGT | CA1205614197 | TBX19 | c.603+22_603+23insATGT (n.603+22_603+23insATGT) c.400+22_400+23insATGT | dbSNP |
1 | g.168293300_168293301insTTGT | CA890800673 | TBX19 | c.603+22_603+23insTTGT (n.603+22_603+23insTTGT) c.400+22_400+23insTTGT | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293299G>A | CA1205614199 | TBX19 | c.603+21G>A (n.603+21G>A) c.400+21G>A | dbSNP gnomAD v4 |
1 | g.168293299G= | CA1205614198 | TBX19 | c.603+21G= (n.603+21G=) c.400+21G= | |
1 | g.168293299G>T | CA890800676 | TBX19 | c.603+21G>T (n.603+21G>T) c.400+21G>T | dbSNP |
1 | g.168293304_168293305insTTGTGT | CA527130767 | TBX19 | c.603+26_603+27insTTGTGT (n.603+26_603+27insTTGTGT) c.400+26_400+27insTTGTGT | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293301G>A | CA2649007531 | TBX19 | c.603+23G>A (n.603+23G>A) c.400+23G>A | gnomAD v4 |
1 | g.168293301G= | CA1205614200 | TBX19 | c.603+23G= (n.603+23G=) c.400+23G= | |
1 | g.168293301G>T | CA31493533 | TBX19 | c.603+23G>T (n.603+23G>T) c.400+23G>T | dbSNP gnomAD v4 |
1 | g.168293302T>C | CA2649007532 | TBX19 | c.603+24T>C (n.603+24T>C) c.400+24T>C | gnomAD v4 |
1 | g.168293303del | CA2649007533 | TBX19 | c.603+25del (n.603+25del) c.400+25del | gnomAD v4 |
1 | g.168293303G>A | CA2649007534 | TBX19 | c.603+25G>A (n.603+25G>A) c.400+25G>A | gnomAD v4 |
1 | g.168293303G= | CA1205614201 | TBX19 | c.603+25G= (n.603+25G=) c.400+25G= | |
1 | g.168293303G>T | CA1230555 | TBX19 | c.603+25G>T (n.603+25G>T) c.400+25G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293303_168293304insAG | CA2649007535 | TBX19 | c.603+25_603+26insAG (n.603+25_603+26insAG) c.400+25_400+26insAG | gnomAD v4 |
1 | g.168293306_168293307insATGT | CA2649007536 | TBX19 | c.603+28_603+29insATGT (n.603+28_603+29insATGT) c.400+28_400+29insATGT | gnomAD v4 |
1 | g.168293305del | CA2649007537 | TBX19 | c.603+27del (n.603+27del) c.400+27del | gnomAD v4 |
1 | g.168293305G>A | CA2649007538 | TBX19 | c.603+27G>A (n.603+27G>A) c.400+27G>A | gnomAD v4 |
1 | g.168293305G= | CA1205614202 | TBX19 | c.603+27G= (n.603+27G=) c.400+27G= | |
1 | g.168293305G>T | CA31493535 | TBX19 | c.603+27G>T (n.603+27G>T) c.400+27G>T | dbSNP gnomAD v4 |
1 | g.168293308_168293309insTTGT | CA1008886745 | TBX19 | c.603+30_603+31insTTGT (n.603+30_603+31insTTGT) c.400+30_400+31insTTGT | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293310_168293311insTTGTGT | CA1230556 | TBX19 | c.603+32_603+33insTTGTGT (n.603+32_603+33insTTGTGT) c.400+32_400+33insTTGTGT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293307del | CA2649007541 | TBX19 | c.603+29del (n.603+29del) c.400+29del | gnomAD v4 |
1 | g.168293307G>A | CA2649007540 | TBX19 | c.603+29G>A (n.603+29G>A) c.400+29G>A | gnomAD v4 |
1 | g.168293307G= | CA1205614203 | TBX19 | c.603+29G= (n.603+29G=) c.400+29G= | |
1 | g.168293307G>T | CA1205614204 | TBX19 | c.603+29G>T (n.603+29G>T) c.400+29G>T | dbSNP gnomAD v4 |
1 | g.168293307_168293308insCG | CA2649007539 | TBX19 | c.603+29_603+30insCG (n.603+29_603+30insCG) c.400+29_400+30insCG | gnomAD v4 |
1 | g.168293310_168293311insTTGT | CA2649007542 | TBX19 | c.603+32_603+33insTTGT (n.603+32_603+33insTTGT) c.400+32_400+33insTTGT | gnomAD v4 |
1 | g.168293309del | CA2649007543 | TBX19 | c.603+31del (n.603+31del) c.400+31del | gnomAD v4 |
1 | g.168293309G>A | CA2649007544 | TBX19 | c.603+31G>A (n.603+31G>A) c.400+31G>A | gnomAD v4 |
1 | g.168293309G= | CA1205614205 | TBX19 | c.603+31G= (n.603+31G=) c.400+31G= | |
1 | g.168293309G>T | CA527130768 | TBX19 | c.603+31G>T (n.603+31G>T) c.400+31G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293309_168293310insAG | CA2574084067 | TBX19 | c.603+31_603+32insAG (n.603+31_603+32insAG) c.400+31_400+32insAG | gnomAD v4 |
1 | g.168293310T>C | CA527130769 | TBX19 | c.603+32T>C (n.603+32T>C) c.400+32T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293310T= | CA1205614206 | TBX19 | c.603+32T= (n.603+32T=) c.400+32T= | |
1 | g.168293311G>A | CA2649007545 | TBX19 | c.603+33G>A (n.603+33G>A) c.400+33G>A | gnomAD v4 |
1 | g.168293312T>A | CA2649007546 | TBX19 | c.603+34T>A (n.603+34T>A) c.400+34T>A | gnomAD v4 |
1 | g.168293312T>C | CA1230557 | TBX19 | c.603+34T>C (n.603+34T>C) c.400+34T>C | dbSNP ExAC gnomAD v4 |
1 | g.168293312T= | CA1205614207 | TBX19 | c.603+34T= (n.603+34T=) c.400+34T= | |
1 | g.168293313G= | CA1205614208 | TBX19 | c.603+35G= (n.603+35G=) c.400+35G= | |
1 | g.168293313G>T | CA527130771 | TBX19 | c.603+35G>T (n.603+35G>T) c.400+35G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293313_168293314insCG | CA527130770 | TBX19 | c.603+35_603+36insCG (n.603+35_603+36insCG) c.400+35_400+36insCG | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293314T>A | CA2649007547 | TBX19 | c.603+36T>A (n.603+36T>A) c.400+36T>A | gnomAD v4 |
1 | g.168293314T>C | CA1230558 | TBX19 | c.603+36T>C (n.603+36T>C) c.400+36T>C | dbSNP ExAC |
1 | g.168293314T= | CA1205614209 | TBX19 | c.603+36T= (n.603+36T=) c.400+36T= | |
1 | g.168293316_168293317insCTGT | CA527130772 | TBX19 | c.603+38_603+39insCTGT (n.603+38_603+39insCTGT) c.400+38_400+39insCTGT | gnomAD v2 gnomAD v4 |
1 | g.168293315G>A | CA2649007548 | TBX19 | c.603+37G>A (n.603+37G>A) c.400+37G>A | gnomAD v4 |
1 | g.168293316T>A | CA2649007549 | TBX19 | c.603+38T>A (n.603+38T>A) c.400+38T>A | gnomAD v4 |
1 | g.168293317G>A | CA2649007550 | TBX19 | c.603+39G>A (n.603+39G>A) c.400+39G>A | gnomAD v4 |
1 | g.168293317_168293318delinsGT | CA1205614210 | TBX19 | c.603+39_603+40delinsGT (n.603+39_603+40delinsGT) c.400+39_400+40delinsGT | |
1 | g.168293318del | CA890800703 | TBX19 | c.603+40del (n.603+40del) c.400+40del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293318T>C | CA1205614212 | TBX19 | c.603+40T>C (n.603+40T>C) c.400+40T>C | dbSNP |
1 | g.168293318T= | CA1205614211 | TBX19 | c.603+40T= (n.603+40T=) c.400+40T= | |
1 | g.168293319G>A | CA1230559 | TBX19 | c.603+41G>A (n.603+41G>A) c.400+41G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.168293319G= | CA1205614213 | TBX19 | c.603+41G= (n.603+41G=) c.400+41G= | |
1 | g.168293320T>A | CA527130773 | TBX19 | c.603+42T>A (n.603+42T>A) c.400+42T>A | dbSNP gnomAD v2 |
1 | g.168293320T>G | CA2649007551 | TBX19 | c.603+42T>G (n.603+42T>G) c.400+42T>G | gnomAD v4 |
1 | g.168293320T= | CA1205614214 | TBX19 | c.603+42T= (n.603+42T=) c.400+42T= | |
1 | g.168293320_168293321insAT | CA527130774 | TBX19 | c.603+42_603+43insAT (n.603+42_603+43insAT) c.400+42_400+43insAT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293322_168293323insTTGT | CA2605560455 | TBX19 | c.603+44_603+45insTTGT (n.603+44_603+45insTTGT) c.400+44_400+45insTTGT | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293321del | CA2649007552 | TBX19 | c.603+43del (n.603+43del) c.400+43del | gnomAD v4 |
1 | g.168293321G>A | CA2574084068 | TBX19 | c.603+43G>A (n.603+43G>A) c.400+43G>A | gnomAD v4 |
1 | g.168293321G>C | CA527130775 | TBX19 | c.603+43G>C (n.603+43G>C) c.400+43G>C | gnomAD v2 |
1 | g.168293321G= | CA1205614215 | TBX19 | c.603+43G= (n.603+43G=) c.400+43G= | |
1 | g.168293321G>T | CA1230561 | TBX19 | c.603+43G>T (n.603+43G>T) c.400+43G>T | dbSNP ExAC |
1 | g.168293321_168293322insGG | CA1230560 | TBX19 | c.603+43_603+44insGG (n.603+43_603+44insGG) c.400+43_400+44insGG | dbSNP ExAC |
1 | g.168293321_168293323dup | CA2649007554 | TBX19 | c.603+43_603+45dup (n.603+43_603+45dup) c.400+43_400+45dup | gnomAD v4 |
1 | g.168293321_168293325dup | CA2649007553 | TBX19 | c.603+43_603+47dup (n.603+43_603+47dup) c.400+43_400+47dup | gnomAD v4 |
1 | g.168293326_168293327insTTGTGT | CA2574084069 | TBX19 | c.603+48_603+49insTTGTGT (n.603+48_603+49insTTGTGT) c.400+48_400+49insTTGTGT | |
1 | g.168293325_168293332del | CA527130776 | TBX19 | c.603+47_603+54del (n.603+47_603+54del) c.400+47_400+54del | gnomAD v2 gnomAD v4 |
1 | g.168293323G>A | CA2574084070 | TBX19 | c.603+45G>A (n.603+45G>A) c.400+45G>A | |
1 | g.168293323_168293325del | CA2649007555 | TBX19 | c.603+45_603+47del (n.603+45_603+47del) c.400+45_400+47del | gnomAD v4 |
1 | g.168293324T>C | CA2649007558 | TBX19 | c.603+46T>C (n.603+46T>C) c.400+46T>C | gnomAD v4 |
1 | g.168293324T= | CA1205614216 | TBX19 | c.603+46T= (n.603+46T=) c.400+46T= | |
1 | g.168293324_168293325insTT | CA2649007556 | TBX19 | c.603+46_603+47insTT (n.603+46_603+47insTT) c.400+46_400+47insTT | gnomAD v4 |
1 | g.168293324_168293325insAACT | CA2746547403 | TBX19 | c.603+46_603+47insAACT (n.603+46_603+47insAACT) c.400+46_400+47insAACT | |
1 | g.168293327_168293332del | CA2649007557 | TBX19 | c.603+49_603+54del (n.603+49_603+54del) c.400+49_400+54del | gnomAD v4 |
1 | g.168293325G>A | CA2574084071 | TBX19 | c.603+47G>A (n.603+47G>A) c.400+47G>A | gnomAD v4 |
1 | g.168293325G= | CA1205614217 | TBX19 | c.603+47G= (n.603+47G=) c.400+47G= | |
1 | g.168293325G>T | CA1230564 | TBX19 | c.603+47G>T (n.603+47G>T) c.400+47G>T | dbSNP ExAC gnomAD v4 |
1 | g.168293325_168293326insCG | CA1230562 | TBX19 | c.603+47_603+48insCG (n.603+47_603+48insCG) c.400+47_400+48insCG | dbSNP ExAC |
1 | g.168293325_168293327delinsGTA | CA1205614218 | TBX19 | c.603+47_603+49delinsGTA (n.603+47_603+49delinsGTA) c.400+47_400+49delinsGTA | |
1 | g.168293325_168293329delinsGTAAC | CA1205614219 | TBX19 | c.603+47_603+51delinsGTAAC (n.603+47_603+51delinsGTAAC) c.400+47_400+51delinsGTAAC | |
1 | g.168293326T>G | CA1230566 | TBX19 | c.603+48T>G (n.603+48T>G) c.400+48T>G | dbSNP ExAC gnomAD v4 |
1 | g.168293326T= | CA1205614220 | TBX19 | c.603+48T= (n.603+48T=) c.400+48T= | |
1 | g.168293326_168293327insTT | CA1205614222 | TBX19 | c.603+48_603+49insTT (n.603+48_603+49insTT) c.400+48_400+49insTT | dbSNP gnomAD v4 |
1 | g.168293326_168293327del | CA1230563 | TBX19 | c.603+48_603+49del (n.603+48_603+49del) c.400+48_400+49del | dbSNP ExAC |
1 | g.168293326_168293328delinsTAA | CA1205614221 | TBX19 | c.603+48_603+50delinsTAA (n.603+48_603+50delinsTAA) c.400+48_400+50delinsTAA | |
1 | g.168293327_168293330del | CA527130777 | TBX19 | c.603+49_603+52del (n.603+49_603+52del) c.400+49_400+52del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293326_168293327insG | CA2649007560 | TBX19 | c.603+48_603+49insG (n.603+48_603+49insG) c.400+48_400+49insG | gnomAD v4 |
1 | g.168293326_168293327insTA | CA31493607 | TBX19 | c.603+48_603+49insTA (n.603+48_603+49insTA) c.400+48_400+49insTA | |
1 | g.168293326_168293327insGTG | CA1008886754 | TBX19 | c.603+48_603+49insGTG (n.603+48_603+49insGTG) c.400+48_400+49insGTG | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293326_168293327insGTGTG | CA1008886756 | TBX19 | c.603+48_603+49insGTGTG (n.603+48_603+49insGTGTG) c.400+48_400+49insGTGTG | gnomAD v3 gnomAD v4 |
1 | g.168293326_168293327insGTGTGACTCA | CA2649007561 | TBX19 | c.603+48_603+49insGTGTGACTCA (n.603+48_603+49insGTGTGACTCA) c.400+48_400+49insGTGTGACTCA | gnomAD v4 |
1 | g.168293327A= | CA1205614223 | TBX19 | c.603+49A= (n.603+49A=) c.400+49A= | |
1 | g.168293327A>C | CA1008886763 | TBX19 | c.603+49A>C (n.603+49A>C) c.400+49A>C | gnomAD v3 gnomAD v4 |
1 | g.168293327A>G | CA1230567 | TBX19 | c.603+49A>G (n.603+49A>G) c.400+49A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.168293327_168293328del | CA1230565 | TBX19 | c.603+49_603+50del (n.603+49_603+50del) c.400+49_400+50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293327_168293328dup | CA2649007559 | TBX19 | c.603+49_603+50dup (n.603+49_603+50dup) c.400+49_400+50dup | gnomAD v4 |
1 | g.168293327_168293329del | CA1008886761 | TBX19 | c.603+49_603+51del (n.603+49_603+51del) c.400+49_400+51del | gnomAD v3 gnomAD v4 |
1 | g.168293328A= | CA1205614224 | TBX19 | c.603+50A= (n.603+50A=) c.400+50A= | |
1 | g.168293328A>C | CA31493613 | TBX19 | c.603+50A>C (n.603+50A>C) c.400+50A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293328A>T | CA1230568 | TBX19 | c.603+50A>T (n.603+50A>T) c.400+50A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293328_168293332delinsACTGT | CA1205614225 | TBX19 | c.603+50_603+54delinsACTGT (n.603+50_603+54delinsACTGT) c.400+50_400+54delinsACTGT | |
1 | g.168293328_168293329insGTCT | CA2746547404 | TBX19 | c.603+50_603+51insGTCT (n.603+50_603+51insGTCT) c.400+50_400+51insGTCT | |
1 | g.168293328_168293329insGTGTGTGTGTGT | CA2605560456 | TBX19 | c.603+50_603+51insGTGTGTGTGTGT (n.603+50_603+51insGTGTGTGTGTGT) c.400+50_400+51insGTGTGTGTGTGT | gnomAD v3 gnomAD v4 |
1 | g.168293329C>A | CA2649007562 | TBX19 | c.603+51C>A (n.603+51C>A) c.400+51C>A | gnomAD v4 |
1 | g.168293329C= | CA1149058283 | TBX19 | c.603+51C= (n.603+51C=) c.400+51C= | |
1 | g.168293329C>G | CA1230569 | TBX19 | c.603+51C>G (n.603+51C>G) c.400+51C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293329C>T | CA2649007563 | TBX19 | c.603+51C>T (n.603+51C>T) c.400+51C>T | gnomAD v4 |
1 | g.168293330_168293333del | CA1008886766 | TBX19 | c.603+52_603+55del (n.603+52_603+55del) c.400+52_400+55del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.168293329_168293330insGTGTG | CA1008886772 | TBX19 | c.603+51_603+52insGTGTG (n.603+51_603+52insGTGTG) c.400+51_400+52insGTGTG | gnomAD v3 gnomAD v4 |
1 | g.168293330T>G | CA2535003296 | TBX19 | c.603+52T>G (n.603+52T>G) c.400+52T>G | gnomAD v4 |
1 | g.168293331_168293332del | CA2649007564 | TBX19 | c.603+53_603+54del (n.603+53_603+54del) c.400+53_400+54del | gnomAD v4 |
1 | g.168293331G>A | CA890800728 | TBX19 | c.603+53G>A (n.603+53G>A) c.400+53G>A | dbSNP gnomAD v4 |
1 | g.168293331G>C | CA2569155157 | TBX19 | c.603+53G>C (n.603+53G>C) c.400+53G>C | gnomAD v4 |
1 | g.168293331G= | CA1205614226 | TBX19 | c.603+53G= (n.603+53G=) c.400+53G= | |
1 | g.168293332T>A | CA2649007566 | TBX19 | c.603+54T>A (n.603+54T>A) c.400+54T>A | gnomAD v4 |
1 | g.168293332T>G | CA2649007567 | TBX19 | c.603+54T>G (n.603+54T>G) c.400+54T>G | gnomAD v4 |
1 | g.168293332_168293333insGTGGTGTGTGTCT | CA2649007565 | TBX19 | c.603+54_603+55insGTGGTGTGTGTCT (n.603+54_603+55insGTGGTGTGTGTCT) c.400+54_400+55insGTGGTGTGTGTCT | gnomAD v4 |
1 | g.168293332_168293333insAA | CA2649007568 | TBX19 | c.603+54_603+55insAA (n.603+54_603+55insAA) c.400+54_400+55insAA | gnomAD v4 |
1 | g.168293333C>A | CA2649007569 | TBX19 | c.603+55C>A (n.603+55C>A) c.400+55C>A | gnomAD v4 |
1 | g.168293334A= | CA1205614227 | TBX19 | c.603+56A= (n.603+56A=) c.400+56A= | |
1 | g.168293334A>C | CA2649007570 | TBX19 | c.603+56A>C (n.603+56A>C) c.400+56A>C | gnomAD v4 |
1 | g.168293334A>G | CA1008886776 | TBX19 | c.603+56A>G (n.603+56A>G) c.400+56A>G | dbSNP |
1 | g.168293334A>T | CA2649007571 | TBX19 | c.603+56A>T (n.603+56A>T) c.400+56A>T | gnomAD v4 |
1 | g.168293335C= | CA1205614228 | TBX19 | c.603+57C= (n.603+57C=) c.400+57C= | |
1 | g.168293335C>G | CA1205614229 | TBX19 | c.603+57C>G (n.603+57C>G) c.400+57C>G | dbSNP gnomAD v4 |
1 | g.168293335C>T | CA890800739 | TBX19 | c.603+57C>T (n.603+57C>T) c.400+57C>T | dbSNP gnomAD v3 gnomAD v4 |