Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.107245589C>A | CA365323108 | PDSS2 | c.661G>T (p.Asp221Tyr) c.526G>T (p.Asp176Tyr) c.253G>T (p.Asp85Tyr) | |
6 | g.107245589C= | CA1653773760 | PDSS2 | c.661G= (p.Asp221=) c.526G= (p.Asp176=) c.253G= (p.Asp85=) | |
6 | g.107245589C>G | CA365323109 | PDSS2 | c.661G>C (p.Asp221His) c.526G>C (p.Asp176His) c.253G>C (p.Asp85His) | |
6 | g.107245589C>T | CA3946055 | PDSS2 | c.661G>A (p.Asp221Asn) c.526G>A (p.Asp176Asn) c.253G>A (p.Asp85Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245590C>A | CA365323110 | PDSS2 | c.660G>T (p.Met220Ile) c.525G>T (p.Met175Ile) c.252G>T (p.Met84Ile) | |
6 | g.107245590C>G | CA365323112 | PDSS2 | c.660G>C (p.Met220Ile) c.525G>C (p.Met175Ile) c.252G>C (p.Met84Ile) | |
6 | g.107245590C>T | CA365323111 | PDSS2 | c.660G>A (p.Met220Ile) c.525G>A (p.Met175Ile) c.252G>A (p.Met84Ile) | gnomAD v4 |
6 | g.107245591A= | CA1653773762 | PDSS2 | c.659T= (p.Met220=) c.524T= (p.Met175=) c.251T= (p.Met84=) | |
6 | g.107245591A>C | CA365323113 | PDSS2 | c.659T>G (p.Met220Arg) c.524T>G (p.Met175Arg) c.251T>G (p.Met84Arg) | |
6 | g.107245591A>G | CA365323114 | PDSS2 | c.659T>C (p.Met220Thr) c.524T>C (p.Met175Thr) c.251T>C (p.Met84Thr) | dbSNP gnomAD v4 |
6 | g.107245591A>T | CA365323115 | PDSS2 | c.659T>A (p.Met220Lys) c.524T>A (p.Met175Lys) c.251T>A (p.Met84Lys) | gnomAD v4 |
6 | g.107245592T>A | CA365323116 | PDSS2 | c.658A>T (p.Met220Leu) c.523A>T (p.Met175Leu) c.250A>T (p.Met84Leu) | |
6 | g.107245592T>C | CA365323117 | PDSS2 | c.658A>G (p.Met220Val) c.523A>G (p.Met175Val) c.250A>G (p.Met84Val) | |
6 | g.107245592T>G | CA365323118 | PDSS2 | c.658A>C (p.Met220Leu) c.523A>C (p.Met175Leu) c.250A>C (p.Met84Leu) | |
6 | g.107245593A>C | CA451564312 | PDSS2 | c.657T>G (p.Leu219=) c.522T>G (p.Leu174=) c.249T>G (p.Leu83=) | |
6 | g.107245593A>G | CA451564315 | PDSS2 | c.657T>C (p.Leu219=) c.522T>C (p.Leu174=) c.249T>C (p.Leu83=) | gnomAD v4 |
6 | g.107245593A>T | CA451564317 | PDSS2 | c.657T>A (p.Leu219=) c.522T>A (p.Leu174=) c.249T>A (p.Leu83=) | |
6 | g.107245594A>C | CA365323119 | PDSS2 | c.656T>G (p.Leu219Arg) c.521T>G (p.Leu174Arg) c.248T>G (p.Leu83Arg) | |
6 | g.107245594A>G | CA365323120 | PDSS2 | c.656T>C (p.Leu219Pro) c.521T>C (p.Leu174Pro) c.248T>C (p.Leu83Pro) | gnomAD v4 |
6 | g.107245594A>T | CA365323121 | PDSS2 | c.656T>A (p.Leu219His) c.521T>A (p.Leu174His) c.248T>A (p.Leu83His) | |
6 | g.107245595G>A | CA365323122 | PDSS2 | c.655C>T (p.Leu219Phe) c.520C>T (p.Leu174Phe) c.247C>T (p.Leu83Phe) | gnomAD v4 |
6 | g.107245595G>C | CA365323123 | PDSS2 | c.655C>G (p.Leu219Val) c.520C>G (p.Leu174Val) c.247C>G (p.Leu83Val) | gnomAD v4 |
6 | g.107245595G>T | CA365323124 | PDSS2 | c.655C>A (p.Leu219Ile) c.520C>A (p.Leu174Ile) c.247C>A (p.Leu83Ile) | |
6 | g.107245596A>C | CA451564322 | PDSS2 | c.654T>G (p.Ala218=) c.519T>G (p.Ala173=) c.246T>G (p.Ala82=) | |
6 | g.107245596A>G | CA451564324 | PDSS2 | c.654T>C (p.Ala218=) c.519T>C (p.Ala173=) c.246T>C (p.Ala82=) | gnomAD v4 |
6 | g.107245596A>T | CA451564325 | PDSS2 | c.654T>A (p.Ala218=) c.519T>A (p.Ala173=) c.246T>A (p.Ala82=) | |
6 | g.107245597G>A | CA365323127 | PDSS2 | c.653C>T (p.Ala218Val) c.518C>T (p.Ala173Val) c.245C>T (p.Ala82Val) | gnomAD v4 |
6 | g.107245597G>C | CA365323125 | PDSS2 | c.653C>G (p.Ala218Gly) c.518C>G (p.Ala173Gly) c.245C>G (p.Ala82Gly) | |
6 | g.107245597G>T | CA365323126 | PDSS2 | c.653C>A (p.Ala218Asp) c.518C>A (p.Ala173Asp) c.245C>A (p.Ala82Asp) | gnomAD v4 |
6 | g.107245598C>A | CA365323128 | PDSS2 | c.652G>T (p.Ala218Ser) c.517G>T (p.Ala173Ser) c.244G>T (p.Ala82Ser) | |
6 | g.107245598C= | CA1653773765 | PDSS2 | c.652G= (p.Ala218=) c.517G= (p.Ala173=) c.244G= (p.Ala82=) | |
6 | g.107245598C>G | CA365323129 | PDSS2 | c.652G>C (p.Ala218Pro) c.517G>C (p.Ala173Pro) c.244G>C (p.Ala82Pro) | |
6 | g.107245598C>T | CA365323130 | PDSS2 | c.652G>A (p.Ala218Thr) c.517G>A (p.Ala173Thr) c.244G>A (p.Ala82Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245599A>C | CA365323131 | PDSS2 | c.651T>G (p.Ser217Arg) c.516T>G (p.Ser172Arg) c.243T>G (p.Ser81Arg) | |
6 | g.107245599A>G | CA451564330 | PDSS2 | c.651T>C (p.Ser217=) c.516T>C (p.Ser172=) c.243T>C (p.Ser81=) | gnomAD v4 |
6 | g.107245599A>T | CA365323132 | PDSS2 | c.651T>A (p.Ser217Arg) c.516T>A (p.Ser172Arg) c.243T>A (p.Ser81Arg) | |
6 | g.107245600C>A | CA365323133 | PDSS2 | c.650G>T (p.Ser217Ile) c.515G>T (p.Ser172Ile) c.242G>T (p.Ser81Ile) | |
6 | g.107245600C>G | CA365323134 | PDSS2 | c.650G>C (p.Ser217Thr) c.515G>C (p.Ser172Thr) c.242G>C (p.Ser81Thr) | |
6 | g.107245600C>T | CA365323135 | PDSS2 | c.650G>A (p.Ser217Asn) c.515G>A (p.Ser172Asn) c.242G>A (p.Ser81Asn) | gnomAD v4 |
6 | g.107245601T>A | CA365323136 | PDSS2 | c.649A>T (p.Ser217Cys) c.514A>T (p.Ser172Cys) c.241A>T (p.Ser81Cys) | |
6 | g.107245601T>C | CA365323137 | PDSS2 | c.649A>G (p.Ser217Gly) c.514A>G (p.Ser172Gly) c.241A>G (p.Ser81Gly) | |
6 | g.107245601T>G | CA365323138 | PDSS2 | c.649A>C (p.Ser217Arg) c.514A>C (p.Ser172Arg) c.241A>C (p.Ser81Arg) | |
6 | g.107245602T>A | CA451564335 | PDSS2 | c.648A>T (p.Ala216=) c.513A>T (p.Ala171=) c.240A>T (p.Ala80=) | |
6 | g.107245602T>C | CA451564336 | PDSS2 | c.648A>G (p.Ala216=) c.513A>G (p.Ala171=) c.240A>G (p.Ala80=) | dbSNP gnomAD v4 |
6 | g.107245602T>G | CA451564339 | PDSS2 | c.648A>C (p.Ala216=) c.513A>C (p.Ala171=) c.240A>C (p.Ala80=) | |
6 | g.107245603G>A | CA365323141 | PDSS2 | c.647C>T (p.Ala216Val) c.512C>T (p.Ala171Val) c.239C>T (p.Ala80Val) | gnomAD v4 |
6 | g.107245603G>C | CA365323140 | PDSS2 | c.647C>G (p.Ala216Gly) c.512C>G (p.Ala171Gly) c.239C>G (p.Ala80Gly) | |
6 | g.107245603G>T | CA365323139 | PDSS2 | c.647C>A (p.Ala216Glu) c.512C>A (p.Ala171Glu) c.239C>A (p.Ala80Glu) | gnomAD v4 |
6 | g.107245604C>A | CA365323142 | PDSS2 | c.646G>T (p.Ala216Ser) c.511G>T (p.Ala171Ser) c.238G>T (p.Ala80Ser) | dbSNP gnomAD v4 |
6 | g.107245604C= | CA1653773767 | PDSS2 | c.646G= (p.Ala216=) c.511G= (p.Ala171=) c.238G= (p.Ala80=) | |
6 | g.107245604C>G | CA3946056 | PDSS2 | c.646G>C (p.Ala216Pro) c.511G>C (p.Ala171Pro) c.238G>C (p.Ala80Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245604C>T | CA365323143 | PDSS2 | c.646G>A (p.Ala216Thr) c.511G>A (p.Ala171Thr) c.238G>A (p.Ala80Thr) | |
6 | g.107245605T>A | CA365323144 | PDSS2 | c.645A>T (p.Leu215Phe) c.510A>T (p.Leu170Phe) c.237A>T (p.Leu79Phe) | |
6 | g.107245605T>C | CA451564347 | PDSS2 | c.645A>G (p.Leu215=) c.510A>G (p.Leu170=) c.237A>G (p.Leu79=) | gnomAD v4 |
6 | g.107245605T>G | CA365323145 | PDSS2 | c.645A>C (p.Leu215Phe) c.510A>C (p.Leu170Phe) c.237A>C (p.Leu79Phe) | |
6 | g.107245606A>C | CA365323146 | PDSS2 | c.644T>G (p.Leu215Ter) c.509T>G (p.Leu170Ter) c.236T>G (p.Leu79Ter) | |
6 | g.107245606A>G | CA365323147 | PDSS2 | c.644T>C (p.Leu215Ser) c.509T>C (p.Leu170Ser) c.236T>C (p.Leu79Ser) | gnomAD v4 |
6 | g.107245606A>T | CA365323148 | PDSS2 | c.644T>A (p.Leu215Ter) c.509T>A (p.Leu170Ter) c.236T>A (p.Leu79Ter) | |
6 | g.107245609del | CA2679875458 | PDSS2 | c.644del (p.Leu215Ter) c.509del (p.Leu170Ter) c.236del (p.Leu79Ter) | gnomAD v4 |
6 | g.107245607A= | CA1653773772 | PDSS2 | c.643T= (p.Leu215=) c.508T= (p.Leu170=) c.235T= (p.Leu79=) | |
6 | g.107245607A>C | CA365323149 | PDSS2 | c.643T>G (p.Leu215Val) c.508T>G (p.Leu170Val) c.235T>G (p.Leu79Val) | gnomAD v4 |
6 | g.107245607A>G | CA451564355 | PDSS2 | c.643T>C (p.Leu215=) c.508T>C (p.Leu170=) c.235T>C (p.Leu79=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.107245607A>T | CA365323150 | PDSS2 | c.643T>A (p.Leu215Ile) c.508T>A (p.Leu170Ile) c.235T>A (p.Leu79Ile) | |
6 | g.107245608A>C | CA451564360 | PDSS2 | c.642T>G (p.Leu214=) c.507T>G (p.Leu169=) c.234T>G (p.Leu78=) | |
6 | g.107245608A>G | CA451564362 | PDSS2 | c.642T>C (p.Leu214=) c.507T>C (p.Leu169=) c.234T>C (p.Leu78=) | |
6 | g.107245608A>T | CA451564364 | PDSS2 | c.642T>A (p.Leu214=) c.507T>A (p.Leu169=) c.234T>A (p.Leu78=) | |
6 | g.107245609A>C | CA365323151 | PDSS2 | c.641T>G (p.Leu214Arg) c.506T>G (p.Leu169Arg) c.233T>G (p.Leu78Arg) | gnomAD v4 |
6 | g.107245609A>G | CA365323152 | PDSS2 | c.641T>C (p.Leu214Pro) c.506T>C (p.Leu169Pro) c.233T>C (p.Leu78Pro) | |
6 | g.107245609A>T | CA365323153 | PDSS2 | c.641T>A (p.Leu214His) c.506T>A (p.Leu169His) c.233T>A (p.Leu78His) | |
6 | g.107245610G>A | CA365323156 | PDSS2 | c.640C>T (p.Leu214Phe) c.505C>T (p.Leu169Phe) c.232C>T (p.Leu78Phe) | gnomAD v4 |
6 | g.107245610G>C | CA365323154 | PDSS2 | c.640C>G (p.Leu214Val) c.505C>G (p.Leu169Val) c.232C>G (p.Leu78Val) | ClinVar |
6 | g.107245610G>T | CA365323155 | PDSS2 | c.640C>A (p.Leu214Ile) c.505C>A (p.Leu169Ile) c.232C>A (p.Leu78Ile) | gnomAD v4 |
6 | g.107245611T>A | CA365323157 | PDSS2 | c.639A>T (p.Glu213Asp) c.504A>T (p.Glu168Asp) c.231A>T (p.Glu77Asp) | |
6 | g.107245611T>C | CA451564374 | PDSS2 | c.639A>G (p.Glu213=) c.504A>G (p.Glu168=) c.231A>G (p.Glu77=) | gnomAD v4 |
6 | g.107245611T>G | CA365323158 | PDSS2 | c.639A>C (p.Glu213Asp) c.504A>C (p.Glu168Asp) c.231A>C (p.Glu77Asp) | |
6 | g.107245612T>A | CA365323159 | PDSS2 | c.638A>T (p.Glu213Val) c.503A>T (p.Glu168Val) c.230A>T (p.Glu77Val) | |
6 | g.107245612T>C | CA3946057 | PDSS2 | c.638A>G (p.Glu213Gly) c.503A>G (p.Glu168Gly) c.230A>G (p.Glu77Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245612T>G | CA365323160 | PDSS2 | c.638A>C (p.Glu213Ala) c.503A>C (p.Glu168Ala) c.230A>C (p.Glu77Ala) | |
6 | g.107245612T= | CA1653773775 | PDSS2 | c.638A= (p.Glu213=) c.503A= (p.Glu168=) c.230A= (p.Glu77=) | |
6 | g.107245613C>A | CA365323161 | PDSS2 | c.637G>T (p.Glu213Ter) c.502G>T (p.Glu168Ter) c.229G>T (p.Glu77Ter) | gnomAD v4 |
6 | g.107245613C>G | CA365323162 | PDSS2 | c.637G>C (p.Glu213Gln) c.502G>C (p.Glu168Gln) c.229G>C (p.Glu77Gln) | gnomAD v4 |
6 | g.107245613C>T | CA365323163 | PDSS2 | c.637G>A (p.Glu213Lys) c.502G>A (p.Glu168Lys) c.229G>A (p.Glu77Lys) | dbSNP gnomAD v4 |
6 | g.107245614del | CA2679875459 | PDSS2 | c.637del (p.Glu213AsnfsTer3) c.502del (p.Glu168AsnfsTer3) c.229del (p.Glu77AsnfsTer3) | gnomAD v4 |
6 | g.107245614C>A | CA451564386 | PDSS2 | c.636G>T (p.Val212=) c.501G>T (p.Val167=) c.228G>T (p.Val76=) | |
6 | g.107245614C>G | CA451564388 | PDSS2 | c.636G>C (p.Val212=) c.501G>C (p.Val167=) c.228G>C (p.Val76=) | |
6 | g.107245614C>T | CA451564390 | PDSS2 | c.636G>A (p.Val212=) c.501G>A (p.Val167=) c.228G>A (p.Val76=) | gnomAD v4 |
6 | g.107245615A= | CA1653773777 | PDSS2 | c.635T= (p.Val212=) c.500T= (p.Val167=) c.227T= (p.Val76=) | |
6 | g.107245615A>C | CA365323164 | PDSS2 | c.635T>G (p.Val212Gly) c.500T>G (p.Val167Gly) c.227T>G (p.Val76Gly) | |
6 | g.107245615A>G | CA3946058 | PDSS2 | c.635T>C (p.Val212Ala) c.500T>C (p.Val167Ala) c.227T>C (p.Val76Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245615A>T | CA365323165 | PDSS2 | c.635T>A (p.Val212Glu) c.500T>A (p.Val167Glu) c.227T>A (p.Val76Glu) | gnomAD v4 |
6 | g.107245616C>A | CA365323168 | PDSS2 | c.634G>T (p.Val212Leu) c.499G>T (p.Val167Leu) c.226G>T (p.Val76Leu) | gnomAD v4 |
6 | g.107245616C>G | CA365323167 | PDSS2 | c.634G>C (p.Val212Leu) c.499G>C (p.Val167Leu) c.226G>C (p.Val76Leu) | gnomAD v4 |
6 | g.107245616C>T | CA365323166 | PDSS2 | c.634G>A (p.Val212Met) c.499G>A (p.Val167Met) c.226G>A (p.Val76Met) | gnomAD v4 |
6 | g.107245617A>C | CA451564407 | PDSS2 | c.633T>G (p.Val211=) c.498T>G (p.Val166=) c.225T>G (p.Val75=) | |
6 | g.107245617A>G | CA451564415 | PDSS2 | c.633T>C (p.Val211=) c.498T>C (p.Val166=) c.225T>C (p.Val75=) | |
6 | g.107245617A>T | CA451564418 | PDSS2 | c.633T>A (p.Val211=) c.498T>A (p.Val166=) c.225T>A (p.Val75=) | |
6 | g.107245618A= | CA1653773782 | PDSS2 | c.632T= (p.Val211=) c.497T= (p.Val166=) c.224T= (p.Val75=) | |
6 | g.107245618A>C | CA365323169 | PDSS2 | c.632T>G (p.Val211Gly) c.497T>G (p.Val166Gly) c.224T>G (p.Val75Gly) | gnomAD v4 |
6 | g.107245618A>G | CA365323171 | PDSS2 | c.632T>C (p.Val211Ala) c.497T>C (p.Val166Ala) c.224T>C (p.Val75Ala) | dbSNP gnomAD v4 |
6 | g.107245618A>T | CA365323170 | PDSS2 | c.632T>A (p.Val211Asp) c.497T>A (p.Val166Asp) c.224T>A (p.Val75Asp) | |
6 | g.107245619C>A | CA365323172 | PDSS2 | c.631G>T (p.Val211Phe) c.496G>T (p.Val166Phe) c.223G>T (p.Val75Phe) | |
6 | g.107245619C>G | CA365323174 | PDSS2 | c.631G>C (p.Val211Leu) c.496G>C (p.Val166Leu) c.223G>C (p.Val75Leu) | |
6 | g.107245619C>T | CA365323173 | PDSS2 | c.631G>A (p.Val211Ile) c.496G>A (p.Val166Ile) c.223G>A (p.Val75Ile) | gnomAD v4 |
6 | g.107245620C>A | CA365323175 | PDSS2 | c.631-1G>T (n.631-1G>T) c.496-1G>T (n.496-1G>T) c.223-1G>T (n.223-1G>T) | gnomAD v4 |
6 | g.107245620C= | CA1653773784 | PDSS2 | c.631-1G= (n.631-1G=) c.496-1G= (n.496-1G=) c.223-1G= (n.223-1G=) | |
6 | g.107245620C>G | CA365323176 | PDSS2 | c.631-1G>C (n.631-1G>C) c.496-1G>C (n.496-1G>C) c.223-1G>C (n.223-1G>C) | |
6 | g.107245620C>T | CA3946059 | PDSS2 | c.631-1G>A (n.631-1G>A) c.496-1G>A (n.496-1G>A) c.223-1G>A (n.223-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245621T>A | CA3946060 | PDSS2 | c.631-2A>T (n.631-2A>T) c.496-2A>T (n.496-2A>T) c.223-2A>T (n.223-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245621T>C | CA365323178 | PDSS2 | c.631-2A>G (n.631-2A>G) c.496-2A>G (n.496-2A>G) c.223-2A>G (n.223-2A>G) | gnomAD v4 |
6 | g.107245621T>G | CA365323177 | PDSS2 | c.631-2A>C (n.631-2A>C) c.496-2A>C (n.496-2A>C) c.223-2A>C (n.223-2A>C) | |
6 | g.107245621T= | CA1653773788 | PDSS2 | c.631-2A= (n.631-2A=) c.496-2A= (n.496-2A=) c.223-2A= (n.223-2A=) | |
6 | g.107245626del | CA2679875460 | PDSS2 | c.631-3del (n.631-3del) c.496-3del (n.496-3del) c.223-3del (n.223-3del) | gnomAD v4 |
6 | g.107245624_107245625insCCAAACACACCCAACAC | CA2772514129 | PDSS2 | c.631-6_631-5insGTGTTGGGTGTGTTTGG (n.631-6_631-5insGTGTTGGGTGTGTTTGG) c.496-6_496-5insGTGTTGGGTGTGTTTGG (n.496-6_496-5insGTGTTGGGTGTGTTTGG) c.223-6_223-5insGTGTTGGGTGTGTTTGG (n.223-6_223-5insGTGTTGGGTGTGTTTGG) | |
6 | g.107245625A= | CA1653773790 | PDSS2 | c.631-6T= (n.631-6T=) c.496-6T= (n.496-6T=) c.223-6T= (n.223-6T=) | |
6 | g.107245625A>G | CA2679875461 | PDSS2 | c.631-6T>C (n.631-6T>C) c.496-6T>C (n.496-6T>C) c.223-6T>C (n.223-6T>C) | gnomAD v4 |
6 | g.107245625A>T | CA3946061 | PDSS2 | c.631-6T>A (n.631-6T>A) c.496-6T>A (n.496-6T>A) c.223-6T>A (n.223-6T>A) | dbSNP ExAC gnomAD v4 |
6 | g.107245626A>G | CA2679875462 | PDSS2 | c.631-7T>C (n.631-7T>C) c.496-7T>C (n.496-7T>C) c.223-7T>C (n.223-7T>C) | gnomAD v4 |
6 | g.107245627G>A | CA2578825651 | PDSS2 | c.631-8C>T (n.631-8C>T) c.496-8C>T (n.496-8C>T) c.223-8C>T (n.223-8C>T) | ClinVar |
6 | g.107245627G>T | CA2679875463 | PDSS2 | c.631-8C>A (n.631-8C>A) c.496-8C>A (n.496-8C>A) c.223-8C>A (n.223-8C>A) | gnomAD v4 |
6 | g.107245628C>G | CA2679875464 | PDSS2 | c.631-9G>C (n.631-9G>C) c.496-9G>C (n.496-9G>C) c.223-9G>C (n.223-9G>C) | gnomAD v4 |
6 | g.107245628C>T | CA2679875465 | PDSS2 | c.631-9G>A (n.631-9G>A) c.496-9G>A (n.496-9G>A) c.223-9G>A (n.223-9G>A) | gnomAD v4 |
6 | g.107245629A>G | CA2679875466 | PDSS2 | c.631-10T>C (n.631-10T>C) c.496-10T>C (n.496-10T>C) c.223-10T>C (n.223-10T>C) | gnomAD v4 |
6 | g.107245634_107245636del | CA2578825652 | PDSS2 | c.631-12_631-10del (n.631-12_631-10del) c.496-12_496-10del (n.496-12_496-10del) c.223-12_223-10del (n.223-12_223-10del) | |
6 | g.107245630A>G | CA2679875467 | PDSS2 | c.631-11T>C (n.631-11T>C) c.496-11T>C (n.496-11T>C) c.223-11T>C (n.223-11T>C) | gnomAD v4 |
6 | g.107245631G>A | CA816881739 | PDSS2 | c.631-12C>T (n.631-12C>T) c.496-12C>T (n.496-12C>T) c.223-12C>T (n.223-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245631G= | CA1653773792 | PDSS2 | c.631-12C= (n.631-12C=) c.496-12C= (n.496-12C=) c.223-12C= (n.223-12C=) | |
6 | g.107245631G>T | CA2679875468 | PDSS2 | c.631-12C>A (n.631-12C>A) c.496-12C>A (n.496-12C>A) c.223-12C>A (n.223-12C>A) | gnomAD v4 |
6 | g.107245632A>G | CA2679875469 | PDSS2 | c.631-13T>C (n.631-13T>C) c.496-13T>C (n.496-13T>C) c.223-13T>C (n.223-13T>C) | gnomAD v4 |
6 | g.107245633A>G | CA2679875470 | PDSS2 | c.631-14T>C (n.631-14T>C) c.496-14T>C (n.496-14T>C) c.223-14T>C (n.223-14T>C) | gnomAD v4 |
6 | g.107245634G>A | CA3946062 | PDSS2 | c.631-15C>T (n.631-15C>T) c.496-15C>T (n.496-15C>T) c.223-15C>T (n.223-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245634G= | CA1653773794 | PDSS2 | c.631-15C= (n.631-15C=) c.496-15C= (n.496-15C=) c.223-15C= (n.223-15C=) | |
6 | g.107245634G>T | CA145601467 | PDSS2 | c.631-15C>A (n.631-15C>A) c.496-15C>A (n.496-15C>A) c.223-15C>A (n.223-15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245634_107245640delinsGAAAAAT | CA1653773795 | PDSS2 | c.631-21_631-15delinsATTTTTC (n.631-21_631-15delinsATTTTTC) c.496-21_496-15delinsATTTTTC (n.496-21_496-15delinsATTTTTC) c.223-21_223-15delinsATTTTTC (n.223-21_223-15delinsATTTTTC) | |
6 | g.107245635A>G | CA2679875471 | PDSS2 | c.631-16T>C (n.631-16T>C) c.496-16T>C (n.496-16T>C) c.223-16T>C (n.223-16T>C) | gnomAD v4 |
6 | g.107245646_107245651del | CA1653773797 | PDSS2 | c.631-21_631-16del (n.631-21_631-16del) c.496-21_496-16del (n.496-21_496-16del) c.223-21_223-16del (n.223-21_223-16del) | dbSNP |
6 | g.107245636A>G | CA2679875472 | PDSS2 | c.631-17T>C (n.631-17T>C) c.496-17T>C (n.496-17T>C) c.223-17T>C (n.223-17T>C) | gnomAD v4 |
6 | g.107245638A>G | CA2679875473 | PDSS2 | c.631-19T>C (n.631-19T>C) c.496-19T>C (n.496-19T>C) c.223-19T>C (n.223-19T>C) | gnomAD v4 |
6 | g.107245639A>C | CA2679875474 | PDSS2 | c.631-20T>G (n.631-20T>G) c.496-20T>G (n.496-20T>G) c.223-20T>G (n.223-20T>G) | gnomAD v4 |
6 | g.107245639A>G | CA2679875475 | PDSS2 | c.631-20T>C (n.631-20T>C) c.496-20T>C (n.496-20T>C) c.223-20T>C (n.223-20T>C) | gnomAD v4 |
6 | g.107245640T>A | CA2578825653 | PDSS2 | c.631-21A>T (n.631-21A>T) c.496-21A>T (n.496-21A>T) c.223-21A>T (n.223-21A>T) | gnomAD v4 |
6 | g.107245640T>C | CA2679875476 | PDSS2 | c.631-21A>G (n.631-21A>G) c.496-21A>G (n.496-21A>G) c.223-21A>G (n.223-21A>G) | gnomAD v4 |
6 | g.107245640T>G | CA3946063 | PDSS2 | c.631-21A>C (n.631-21A>C) c.496-21A>C (n.496-21A>C) c.223-21A>C (n.223-21A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245640T= | CA1653773798 | PDSS2 | c.631-21A= (n.631-21A=) c.496-21A= (n.496-21A=) c.223-21A= (n.223-21A=) | |
6 | g.107245641A>G | CA2679875478 | PDSS2 | c.631-22T>C (n.631-22T>C) c.496-22T>C (n.496-22T>C) c.223-22T>C (n.223-22T>C) | gnomAD v4 |
6 | g.107245645del | CA2679875477 | PDSS2 | c.631-22del (n.631-22del) c.496-22del (n.496-22del) c.223-22del (n.223-22del) | gnomAD v4 |
6 | g.107245642A>C | CA2679875479 | PDSS2 | c.631-23T>G (n.631-23T>G) c.496-23T>G (n.496-23T>G) c.223-23T>G (n.223-23T>G) | gnomAD v4 |
6 | g.107245642A>G | CA2679875480 | PDSS2 | c.631-23T>C (n.631-23T>C) c.496-23T>C (n.496-23T>C) c.223-23T>C (n.223-23T>C) | gnomAD v4 |
6 | g.107245642A>T | CA2679875481 | PDSS2 | c.631-23T>A (n.631-23T>A) c.496-23T>A (n.496-23T>A) c.223-23T>A (n.223-23T>A) | gnomAD v4 |
6 | g.107245643A>G | CA2679875482 | PDSS2 | c.631-24T>C (n.631-24T>C) c.496-24T>C (n.496-24T>C) c.223-24T>C (n.223-24T>C) | gnomAD v4 |
6 | g.107245644A>G | CA2679875483 | PDSS2 | c.631-25T>C (n.631-25T>C) c.496-25T>C (n.496-25T>C) c.223-25T>C (n.223-25T>C) | gnomAD v4 |
6 | g.107245645A= | CA1653773800 | PDSS2 | c.631-26T= (n.631-26T=) c.496-26T= (n.496-26T=) c.223-26T= (n.223-26T=) | |
6 | g.107245645A>G | CA569507493 | PDSS2 | c.631-26T>C (n.631-26T>C) c.496-26T>C (n.496-26T>C) c.223-26T>C (n.223-26T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245646T>A | CA2578825654 | PDSS2 | c.631-27A>T (n.631-27A>T) c.496-27A>T (n.496-27A>T) c.223-27A>T (n.223-27A>T) | gnomAD v4 |
6 | g.107245646T>C | CA569507494 | PDSS2 | c.631-27A>G (n.631-27A>G) c.496-27A>G (n.496-27A>G) c.223-27A>G (n.223-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107245646T= | CA1653773802 | PDSS2 | c.631-27A= (n.631-27A=) c.496-27A= (n.496-27A=) c.223-27A= (n.223-27A=) | |
6 | g.107245646_107245649delinsTAAA | CA1653773801 | PDSS2 | c.631-30_631-27delinsTTTA (n.631-30_631-27delinsTTTA) c.496-30_496-27delinsTTTA (n.496-30_496-27delinsTTTA) c.223-30_223-27delinsTTTA (n.223-30_223-27delinsTTTA) | |
6 | g.107245647A= | CA1653773804 | PDSS2 | c.631-28T= (n.631-28T=) c.496-28T= (n.496-28T=) c.223-28T= (n.223-28T=) | |
6 | g.107245647A>C | CA2772514130 | PDSS2 | c.631-28T>G (n.631-28T>G) c.496-28T>G (n.496-28T>G) c.223-28T>G (n.223-28T>G) | |
6 | g.107245647A>G | CA2679875485 | PDSS2 | c.631-28T>C (n.631-28T>C) c.496-28T>C (n.496-28T>C) c.223-28T>C (n.223-28T>C) | gnomAD v4 |
6 | g.107245647A>T | CA3946065 | PDSS2 | c.631-28T>A (n.631-28T>A) c.496-28T>A (n.496-28T>A) c.223-28T>A (n.223-28T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245653dup | CA3946064 | PDSS2 | c.631-28dup (n.631-28dup) c.496-28dup (n.496-28dup) c.223-28dup (n.223-28dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245653del | CA2679875484 | PDSS2 | c.631-28del (n.631-28del) c.496-28del (n.496-28del) c.223-28del (n.223-28del) | gnomAD v4 |
6 | g.107245651_107245653del | CA1653773803 | PDSS2 | c.631-30_631-28del (n.631-30_631-28del) c.496-30_496-28del (n.496-30_496-28del) c.223-30_223-28del (n.223-30_223-28del) | dbSNP |
6 | g.107245648A>G | CA2679875486 | PDSS2 | c.631-29T>C (n.631-29T>C) c.496-29T>C (n.496-29T>C) c.223-29T>C (n.223-29T>C) | gnomAD v4 |
6 | g.107245649A= | CA1653773806 | PDSS2 | c.631-30T= (n.631-30T=) c.496-30T= (n.496-30T=) c.223-30T= (n.223-30T=) | |
6 | g.107245649A>G | CA3946066 | PDSS2 | c.631-30T>C (n.631-30T>C) c.496-30T>C (n.496-30T>C) c.223-30T>C (n.223-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245650A>G | CA2679875487 | PDSS2 | c.631-31T>C (n.631-31T>C) c.496-31T>C (n.496-31T>C) c.223-31T>C (n.223-31T>C) | gnomAD v4 |
6 | g.107245650_107245655del | CA2518529971 | PDSS2 | c.631-36_631-31del (n.631-36_631-31del) c.496-36_496-31del (n.496-36_496-31del) c.223-36_223-31del (n.223-36_223-31del) | |
6 | g.107245650_107245651insCACACCCAACAC | CA2772514131 | PDSS2 | c.631-32_631-31insGTGTTGGGTGTG (n.631-32_631-31insGTGTTGGGTGTG) c.496-32_496-31insGTGTTGGGTGTG (n.496-32_496-31insGTGTTGGGTGTG) c.223-32_223-31insGTGTTGGGTGTG (n.223-32_223-31insGTGTTGGGTGTG) | |
6 | g.107245652A= | CA1653773808 | PDSS2 | c.631-33T= (n.631-33T=) c.496-33T= (n.496-33T=) c.223-33T= (n.223-33T=) | |
6 | g.107245652A>C | CA3946067 | PDSS2 | c.631-33T>G (n.631-33T>G) c.496-33T>G (n.496-33T>G) c.223-33T>G (n.223-33T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245652A>T | CA2572163334 | PDSS2 | c.631-33T>A (n.631-33T>A) c.496-33T>A (n.496-33T>A) c.223-33T>A (n.223-33T>A) | |
6 | g.107245654T>A | CA816881757 | PDSS2 | c.631-35A>T (n.631-35A>T) c.496-35A>T (n.496-35A>T) c.223-35A>T (n.223-35A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245654T>C | CA145601468 | PDSS2 | c.631-35A>G (n.631-35A>G) c.496-35A>G (n.496-35A>G) c.223-35A>G (n.223-35A>G) | dbSNP |
6 | g.107245654T= | CA1653773810 | PDSS2 | c.631-35A= (n.631-35A=) c.496-35A= (n.496-35A=) c.223-35A= (n.223-35A=) | |
6 | g.107245655T>G | CA2679875488 | PDSS2 | c.631-36A>C (n.631-36A>C) c.496-36A>C (n.496-36A>C) c.223-36A>C (n.223-36A>C) | gnomAD v4 |
6 | g.107245656T>A | CA2679875489 | PDSS2 | c.631-37A>T (n.631-37A>T) c.496-37A>T (n.496-37A>T) c.223-37A>T (n.223-37A>T) | gnomAD v4 |
6 | g.107245659A= | CA1653773819 | PDSS2 | c.631-40T= (n.631-40T=) c.496-40T= (n.496-40T=) c.223-40T= (n.223-40T=) | |
6 | g.107245659A>G | CA3946068 | PDSS2 | c.631-40T>C (n.631-40T>C) c.496-40T>C (n.496-40T>C) c.223-40T>C (n.223-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245660T>A | CA2578825655 | PDSS2 | c.631-41A>T (n.631-41A>T) c.496-41A>T (n.496-41A>T) c.223-41A>T (n.223-41A>T) | |
6 | g.107245661A>C | CA2679875490 | PDSS2 | c.631-42T>G (n.631-42T>G) c.496-42T>G (n.496-42T>G) c.223-42T>G (n.223-42T>G) | gnomAD v4 |
6 | g.107245661A>G | CA2679875491 | PDSS2 | c.631-42T>C (n.631-42T>C) c.496-42T>C (n.496-42T>C) c.223-42T>C (n.223-42T>C) | gnomAD v4 |
6 | g.107245662T>A | CA2578825656 | PDSS2 | c.631-43A>T (n.631-43A>T) c.496-43A>T (n.496-43A>T) c.223-43A>T (n.223-43A>T) | |
6 | g.107245662T>C | CA816881763 | PDSS2 | c.631-43A>G (n.631-43A>G) c.496-43A>G (n.496-43A>G) c.223-43A>G (n.223-43A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245662T>G | CA2679875492 | PDSS2 | c.631-43A>C (n.631-43A>C) c.496-43A>C (n.496-43A>C) c.223-43A>C (n.223-43A>C) | gnomAD v4 |
6 | g.107245662T= | CA1653773821 | PDSS2 | c.631-43A= (n.631-43A=) c.496-43A= (n.496-43A=) c.223-43A= (n.223-43A=) | |
6 | g.107245663A= | CA1653773824 | PDSS2 | c.631-44T= (n.631-44T=) c.496-44T= (n.496-44T=) c.223-44T= (n.223-44T=) | |
6 | g.107245663A>G | CA3946069 | PDSS2 | c.631-44T>C (n.631-44T>C) c.496-44T>C (n.496-44T>C) c.223-44T>C (n.223-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245664T>A | CA2578825657 | PDSS2 | c.631-45A>T (n.631-45A>T) c.496-45A>T (n.496-45A>T) c.223-45A>T (n.223-45A>T) | gnomAD v4 |
6 | g.107245664T>C | CA2679875493 | PDSS2 | c.631-45A>G (n.631-45A>G) c.496-45A>G (n.496-45A>G) c.223-45A>G (n.223-45A>G) | gnomAD v4 |
6 | g.107245664T>G | CA2679875494 | PDSS2 | c.631-45A>C (n.631-45A>C) c.496-45A>C (n.496-45A>C) c.223-45A>C (n.223-45A>C) | gnomAD v4 |
6 | g.107245665C= | CA1653773826 | PDSS2 | c.631-46G= (n.631-46G=) c.496-46G= (n.496-46G=) c.223-46G= (n.223-46G=) | |
6 | g.107245665C>T | CA569507495 | PDSS2 | c.631-46G>A (n.631-46G>A) c.496-46G>A (n.496-46G>A) c.223-46G>A (n.223-46G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.107245666T>C | CA3946070 | PDSS2 | c.631-47A>G (n.631-47A>G) c.496-47A>G (n.496-47A>G) c.223-47A>G (n.223-47A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.107245666T>G | CA2679875495 | PDSS2 | c.631-47A>C (n.631-47A>C) c.496-47A>C (n.496-47A>C) c.223-47A>C (n.223-47A>C) | gnomAD v4 |
6 | g.107245666T= | CA1653773828 | PDSS2 | c.631-47A= (n.631-47A=) c.496-47A= (n.496-47A=) c.223-47A= (n.223-47A=) | |
6 | g.107245667C>A | CA2679875496 | PDSS2 | c.631-48G>T (n.631-48G>T) c.496-48G>T (n.496-48G>T) c.223-48G>T (n.223-48G>T) | gnomAD v4 |
6 | g.107245668T>A | CA2578825658 | PDSS2 | c.631-49A>T (n.631-49A>T) c.496-49A>T (n.496-49A>T) c.223-49A>T (n.223-49A>T) | |
6 | g.107245668T>G | CA2679875497 | PDSS2 | c.631-49A>C (n.631-49A>C) c.496-49A>C (n.496-49A>C) c.223-49A>C (n.223-49A>C) | gnomAD v4 |
6 | g.107245669A>C | CA2679875498 | PDSS2 | c.631-50T>G (n.631-50T>G) c.496-50T>G (n.496-50T>G) c.223-50T>G (n.223-50T>G) | gnomAD v4 |
6 | g.107245669A>G | CA2578825659 | PDSS2 | c.631-50T>C (n.631-50T>C) c.496-50T>C (n.496-50T>C) c.223-50T>C (n.223-50T>C) | gnomAD v4 |
6 | g.107245669A>T | CA2679875499 | PDSS2 | c.631-50T>A (n.631-50T>A) c.496-50T>A (n.496-50T>A) c.223-50T>A (n.223-50T>A) | gnomAD v4 |
6 | g.107245670T>C | CA1092900096 | PDSS2 | c.631-51A>G (n.631-51A>G) c.496-51A>G (n.496-51A>G) c.223-51A>G (n.223-51A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245670T= | CA1653773830 | PDSS2 | c.631-51A= (n.631-51A=) c.496-51A= (n.496-51A=) c.223-51A= (n.223-51A=) | |
6 | g.107245671T>C | CA569507496 | PDSS2 | c.631-52A>G (n.631-52A>G) c.496-52A>G (n.496-52A>G) c.223-52A>G (n.223-52A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.107245671T= | CA1653773832 | PDSS2 | c.631-52A= (n.631-52A=) c.496-52A= (n.496-52A=) c.223-52A= (n.223-52A=) | |
6 | g.107245672G>A | CA2679875500 | PDSS2 | c.631-53C>T (n.631-53C>T) c.496-53C>T (n.496-53C>T) c.223-53C>T (n.223-53C>T) | gnomAD v4 |
6 | g.107245672G>T | CA2679875501 | PDSS2 | c.631-53C>A (n.631-53C>A) c.496-53C>A (n.496-53C>A) c.223-53C>A (n.223-53C>A) | gnomAD v4 |
6 | g.107245673T>A | CA2578825661 | PDSS2 | c.631-54A>T (n.631-54A>T) c.496-54A>T (n.496-54A>T) c.223-54A>T (n.223-54A>T) | |
6 | g.107245674del | CA2578825660 | PDSS2 | c.631-54del (n.631-54del) c.496-54del (n.496-54del) c.223-54del (n.223-54del) | |
6 | g.107245675A>G | CA2578825662 | PDSS2 | c.631-56T>C (n.631-56T>C) c.496-56T>C (n.496-56T>C) c.223-56T>C (n.223-56T>C) | gnomAD v4 |
6 | g.107245675A>T | CA2679875502 | PDSS2 | c.631-56T>A (n.631-56T>A) c.496-56T>A (n.496-56T>A) c.223-56T>A (n.223-56T>A) | gnomAD v4 |
6 | g.107245676C>T | CA2679875503 | PDSS2 | c.631-57G>A (n.631-57G>A) c.496-57G>A (n.496-57G>A) c.223-57G>A (n.223-57G>A) | gnomAD v4 |
6 | g.107245677C>A | CA2679875504 | PDSS2 | c.631-58G>T (n.631-58G>T) c.496-58G>T (n.496-58G>T) c.223-58G>T (n.223-58G>T) | gnomAD v4 |
6 | g.107245678T>A | CA2602580564 | PDSS2 | c.631-59A>T (n.631-59A>T) c.496-59A>T (n.496-59A>T) c.223-59A>T (n.223-59A>T) | gnomAD v3 gnomAD v4 |
6 | g.107245678T>C | CA2679875505 | PDSS2 | c.631-59A>G (n.631-59A>G) c.496-59A>G (n.496-59A>G) c.223-59A>G (n.223-59A>G) | gnomAD v4 |
6 | g.107245679C>A | CA2578825663 | PDSS2 | c.631-60G>T (n.631-60G>T) c.496-60G>T (n.496-60G>T) c.223-60G>T (n.223-60G>T) | gnomAD v4 |
6 | g.107245679C>G | CA2679875506 | PDSS2 | c.631-60G>C (n.631-60G>C) c.496-60G>C (n.496-60G>C) c.223-60G>C (n.223-60G>C) | gnomAD v4 |
6 | g.107245679C>T | CA2679875507 | PDSS2 | c.631-60G>A (n.631-60G>A) c.496-60G>A (n.496-60G>A) c.223-60G>A (n.223-60G>A) | gnomAD v4 |
6 | g.107245680A>C | CA2578825664 | PDSS2 | c.631-61T>G (n.631-61T>G) c.496-61T>G (n.496-61T>G) c.223-61T>G (n.223-61T>G) | gnomAD v4 |
6 | g.107245680A>G | CA2679875508 | PDSS2 | c.631-61T>C (n.631-61T>C) c.496-61T>C (n.496-61T>C) c.223-61T>C (n.223-61T>C) | gnomAD v4 |
6 | g.107245681G>A | CA2679875509 | PDSS2 | c.631-62C>T (n.631-62C>T) c.496-62C>T (n.496-62C>T) c.223-62C>T (n.223-62C>T) | gnomAD v4 |
6 | g.107245681G>T | CA2578825665 | PDSS2 | c.631-62C>A (n.631-62C>A) c.496-62C>A (n.496-62C>A) c.223-62C>A (n.223-62C>A) | gnomAD v4 |
6 | g.107245682A= | CA1653773835 | PDSS2 | c.631-63T= (n.631-63T=) c.496-63T= (n.496-63T=) c.223-63T= (n.223-63T=) | |
6 | g.107245682A>G | CA145601469 | PDSS2 | c.631-63T>C (n.631-63T>C) c.496-63T>C (n.496-63T>C) c.223-63T>C (n.223-63T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.107245682A>T | CA2679875510 | PDSS2 | c.631-63T>A (n.631-63T>A) c.496-63T>A (n.496-63T>A) c.223-63T>A (n.223-63T>A) | gnomAD v4 |
6 | g.107245684T>A | CA2578825666 | PDSS2 | c.631-65A>T (n.631-65A>T) c.496-65A>T (n.496-65A>T) c.223-65A>T (n.223-65A>T) | gnomAD v4 |
6 | g.107245684T>C | CA2578825667 | PDSS2 | c.631-65A>G (n.631-65A>G) c.496-65A>G (n.496-65A>G) c.223-65A>G (n.223-65A>G) | |
6 | g.107245685G>A | CA2578825668 | PDSS2 | c.631-66C>T (n.631-66C>T) c.496-66C>T (n.496-66C>T) c.223-66C>T (n.223-66C>T) | |
6 | g.107245685G>T | CA2578825669 | PDSS2 | c.631-66C>A (n.631-66C>A) c.496-66C>A (n.496-66C>A) c.223-66C>A (n.223-66C>A) | gnomAD v4 |
6 | g.107245687T>C | CA145601470 | PDSS2 | c.631-68A>G (n.631-68A>G) c.496-68A>G (n.496-68A>G) c.223-68A>G (n.223-68A>G) | dbSNP gnomAD v4 |
6 | g.107245687T= | CA1653773837 | PDSS2 | c.631-68A= (n.631-68A=) c.496-68A= (n.496-68A=) c.223-68A= (n.223-68A=) | |
6 | g.107245688T>A | CA2578825670 | PDSS2 | c.631-69A>T (n.631-69A>T) c.496-69A>T (n.496-69A>T) c.223-69A>T (n.223-69A>T) | |
6 | g.107245689C>A | CA2679875511 | PDSS2 | c.631-70G>T (n.631-70G>T) c.496-70G>T (n.496-70G>T) c.223-70G>T (n.223-70G>T) | gnomAD v4 |
6 | g.107245689C= | CA1653773839 | PDSS2 | c.631-70G= (n.631-70G=) c.496-70G= (n.496-70G=) c.223-70G= (n.223-70G=) | |
6 | g.107245689C>T | CA145601471 | PDSS2 | c.631-70G>A (n.631-70G>A) c.496-70G>A (n.496-70G>A) c.223-70G>A (n.223-70G>A) | dbSNP gnomAD v3 gnomAD v4 |