Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.64616029T>A | CA371335582 | CYP7B1 | c.512A>T (p.Lys171Ile) c.578A>T (p.Lys193Ile) | |
8 | g.64616029T>C | CA4764195 | CYP7B1 | c.512A>G (p.Lys171Arg) c.578A>G (p.Lys193Arg) | dbSNP ExAC gnomAD v2 |
8 | g.64616029T>G | CA371335583 | CYP7B1 | c.512A>C (p.Lys171Thr) c.578A>C (p.Lys193Thr) | |
8 | g.64616029T= | CA1789664425 | CYP7B1 | c.512A= (p.Lys171=) c.578A= (p.Lys193=) | |
8 | g.64616030T>A | CA371335584 | CYP7B1 | c.511A>T (p.Lys171Ter) c.577A>T (p.Lys193Ter) | |
8 | g.64616030T>C | CA371335585 | CYP7B1 | c.511A>G (p.Lys171Glu) c.577A>G (p.Lys193Glu) | |
8 | g.64616030T>G | CA371335586 | CYP7B1 | c.511A>C (p.Lys171Gln) c.577A>C (p.Lys193Gln) | gnomAD v4 |
8 | g.64616031T>A | CA371335588 | CYP7B1 | c.510A>T (p.Leu170Phe) c.576A>T (p.Leu192Phe) | |
8 | g.64616031T>C | CA461420358 | CYP7B1 | c.510A>G (p.Leu170=) c.576A>G (p.Leu192=) | |
8 | g.64616031T>G | CA371335587 | CYP7B1 | c.510A>C (p.Leu170Phe) c.576A>C (p.Leu192Phe) | |
8 | g.64616031_64616032delinsTA | CA1789664426 | CYP7B1 | c.509_510delinsTA (p.Leu170=) c.575_576delinsTA (p.Leu192=) | |
8 | g.64616032A>C | CA371335589 | CYP7B1 | c.509T>G (p.Leu170Ter) c.575T>G (p.Leu192Ter) | |
8 | g.64616032A>G | CA371335590 | CYP7B1 | c.509T>C (p.Leu170Ser) c.575T>C (p.Leu192Ser) | |
8 | g.64616032A>T | CA371335591 | CYP7B1 | c.509T>A (p.Leu170Ter) c.575T>A (p.Leu192Ter) | |
8 | g.64616033dup | CA4764196 | CYP7B1 | c.509dup (p.Leu170PhefsTer21) c.575dup (p.Leu192PhefsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616033del | CA582454661 | CYP7B1 | c.509del (p.Leu170Ter) c.575del (p.Leu192Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616033A= | CA1789664427 | CYP7B1 | c.508T= (p.Leu170=) c.574T= (p.Leu192=) | |
8 | g.64616033A>C | CA371335592 | CYP7B1 | c.508T>G (p.Leu170Val) c.574T>G (p.Leu192Val) | |
8 | g.64616033A>G | CA461420361 | CYP7B1 | c.508T>C (p.Leu170=) c.574T>C (p.Leu192=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616033A>T | CA371335593 | CYP7B1 | c.508T>A (p.Leu170Ile) c.574T>A (p.Leu192Ile) | |
8 | g.64616034C>A | CA461420364 | CYP7B1 | c.507G>T (p.Leu169=) c.573G>T (p.Leu191=) | |
8 | g.64616034C>G | CA461420365 | CYP7B1 | c.507G>C (p.Leu169=) c.573G>C (p.Leu191=) | gnomAD v4 |
8 | g.64616034C>T | CA461420366 | CYP7B1 | c.507G>A (p.Leu169=) c.573G>A (p.Leu191=) | ClinVar |
8 | g.64616035A= | CA1789664428 | CYP7B1 | c.506T= (p.Leu169=) c.572T= (p.Leu191=) | |
8 | g.64616035A>C | CA371335594 | CYP7B1 | c.506T>G (p.Leu169Arg) c.572T>G (p.Leu191Arg) | |
8 | g.64616035A>G | CA371335596 | CYP7B1 | c.506T>C (p.Leu169Pro) c.572T>C (p.Leu191Pro) | dbSNP |
8 | g.64616035A>T | CA371335595 | CYP7B1 | c.506T>A (p.Leu169Gln) c.572T>A (p.Leu191Gln) | |
8 | g.64616036G>A | CA461420369 | CYP7B1 | c.505C>T (p.Leu169=) c.571C>T (p.Leu191=) | |
8 | g.64616036G>C | CA371335597 | CYP7B1 | c.505C>G (p.Leu169Val) c.571C>G (p.Leu191Val) | |
8 | g.64616036G>T | CA371335598 | CYP7B1 | c.505C>A (p.Leu169Met) c.571C>A (p.Leu191Met) | gnomAD v4 |
8 | g.64616037C>A | CA371335599 | CYP7B1 | c.504G>T (p.Gln168His) c.570G>T (p.Gln190His) | |
8 | g.64616037C= | CA1789664429 | CYP7B1 | c.504G= (p.Gln168=) c.570G= (p.Gln190=) | |
8 | g.64616037C>G | CA178389715 | CYP7B1 | c.504G>C (p.Gln168His) c.570G>C (p.Gln190His) | dbSNP gnomAD v4 |
8 | g.64616037C>T | CA461420370 | CYP7B1 | c.504G>A (p.Gln168=) c.570G>A (p.Gln190=) | |
8 | g.64616038T>A | CA371335600 | CYP7B1 | c.503A>T (p.Gln168Leu) c.569A>T (p.Gln190Leu) | |
8 | g.64616038T>C | CA371335601 | CYP7B1 | c.503A>G (p.Gln168Arg) c.569A>G (p.Gln190Arg) | |
8 | g.64616038T>G | CA371335602 | CYP7B1 | c.503A>C (p.Gln168Pro) c.569A>C (p.Gln190Pro) | |
8 | g.64616039G>A | CA371335603 | CYP7B1 | c.502C>T (p.Gln168Ter) c.568C>T (p.Gln190Ter) | |
8 | g.64616039G>C | CA371335604 | CYP7B1 | c.502C>G (p.Gln168Glu) c.568C>G (p.Gln190Glu) | |
8 | g.64616039G>T | CA371335605 | CYP7B1 | c.502C>A (p.Gln168Lys) c.568C>A (p.Gln190Lys) | |
8 | g.64616040G>A | CA178389718 | CYP7B1 | c.501C>T (p.Pro167=) c.567C>T (p.Pro189=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616040G>C | CA461420374 | CYP7B1 | c.501C>G (p.Pro167=) c.567C>G (p.Pro189=) | |
8 | g.64616040G= | CA1789664430 | CYP7B1 | c.501C= (p.Pro167=) c.567C= (p.Pro189=) | |
8 | g.64616040G>T | CA461420375 | CYP7B1 | c.501C>A (p.Pro167=) c.567C>A (p.Pro189=) | |
8 | g.64616041G>A | CA371335608 | CYP7B1 | c.500C>T (p.Pro167Leu) c.566C>T (p.Pro189Leu) | gnomAD v4 |
8 | g.64616041G>C | CA371335607 | CYP7B1 | c.500C>G (p.Pro167Arg) c.566C>G (p.Pro189Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.64616041G= | CA1789664431 | CYP7B1 | c.500C= (p.Pro167=) c.566C= (p.Pro189=) | |
8 | g.64616041G>T | CA371335606 | CYP7B1 | c.500C>A (p.Pro167His) c.566C>A (p.Pro189His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616042G>A | CA371335609 | CYP7B1 | c.499C>T (p.Pro167Ser) c.565C>T (p.Pro189Ser) | |
8 | g.64616042G>C | CA371335610 | CYP7B1 | c.499C>G (p.Pro167Ala) c.565C>G (p.Pro189Ala) | gnomAD v4 |
8 | g.64616042G>T | CA371335611 | CYP7B1 | c.499C>A (p.Pro167Thr) c.565C>A (p.Pro189Thr) | |
8 | g.64616043T>A | CA371335612 | CYP7B1 | c.498A>T (p.Glu166Asp) c.564A>T (p.Glu188Asp) | |
8 | g.64616043T>C | CA461420379 | CYP7B1 | c.498A>G (p.Glu166=) c.564A>G (p.Glu188=) | COSMIC |
8 | g.64616043T>G | CA371335613 | CYP7B1 | c.498A>C (p.Glu166Asp) c.564A>C (p.Glu188Asp) | |
8 | g.64616044T>A | CA4764197 | CYP7B1 | c.497A>T (p.Glu166Val) c.563A>T (p.Glu188Val) | dbSNP ExAC gnomAD v2 |
8 | g.64616044T>C | CA371335614 | CYP7B1 | c.497A>G (p.Glu166Gly) c.563A>G (p.Glu188Gly) | |
8 | g.64616044T>G | CA371335615 | CYP7B1 | c.497A>C (p.Glu166Ala) c.563A>C (p.Glu188Ala) | |
8 | g.64616044T= | CA1789664432 | CYP7B1 | c.497A= (p.Glu166=) c.563A= (p.Glu188=) | |
8 | g.64616044_64616045delinsCA | CA2739268835 | CYP7B1 | c.496_497delinsTG (p.Glu166Ter) c.562_563delinsTG (p.Glu188Ter) | ClinVar |
8 | g.64616045C>A | CA371335616 | CYP7B1 | c.496G>T (p.Glu166Ter) c.562G>T (p.Glu188Ter) | gnomAD v4 |
8 | g.64616045C= | CA1789664433 | CYP7B1 | c.496G= (p.Glu166=) c.562G= (p.Glu188=) | |
8 | g.64616045C>G | CA371335617 | CYP7B1 | c.496G>C (p.Glu166Gln) c.562G>C (p.Glu188Gln) | |
8 | g.64616045C>T | CA4764198 | CYP7B1 | c.496G>A (p.Glu166Lys) c.562G>A (p.Glu188Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616046A>C | CA371335618 | CYP7B1 | c.495T>G (p.Phe165Leu) c.561T>G (p.Phe187Leu) | |
8 | g.64616046A>G | CA461420381 | CYP7B1 | c.495T>C (p.Phe165=) c.561T>C (p.Phe187=) | |
8 | g.64616046A>T | CA371335619 | CYP7B1 | c.495T>A (p.Phe165Leu) c.561T>A (p.Phe187Leu) | |
8 | g.64616047A= | CA1789664434 | CYP7B1 | c.494T= (p.Phe165=) c.560T= (p.Phe187=) | |
8 | g.64616047A>C | CA371335621 | CYP7B1 | c.494T>G (p.Phe165Cys) c.560T>G (p.Phe187Cys) | |
8 | g.64616047A>G | CA371335620 | CYP7B1 | c.494T>C (p.Phe165Ser) c.560T>C (p.Phe187Ser) | |
8 | g.64616047A>T | CA4764199 | CYP7B1 | c.494T>A (p.Phe165Tyr) c.560T>A (p.Phe187Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616048A>C | CA371335622 | CYP7B1 | c.493T>G (p.Phe165Val) c.559T>G (p.Phe187Val) | |
8 | g.64616048A>G | CA371335623 | CYP7B1 | c.493T>C (p.Phe165Leu) c.559T>C (p.Phe187Leu) | |
8 | g.64616048A>T | CA371335624 | CYP7B1 | c.493T>A (p.Phe165Ile) c.559T>A (p.Phe187Ile) | |
8 | g.64616049A>C | CA461420384 | CYP7B1 | c.492T>G (p.Val164=) c.558T>G (p.Val186=) | dbSNP |
8 | g.64616049A>G | CA461420386 | CYP7B1 | c.492T>C (p.Val164=) c.558T>C (p.Val186=) | gnomAD v4 |
8 | g.64616049A>T | CA461420387 | CYP7B1 | c.492T>A (p.Val164=) c.558T>A (p.Val186=) | |
8 | g.64616050A>C | CA371335625 | CYP7B1 | c.491T>G (p.Val164Gly) c.557T>G (p.Val186Gly) | |
8 | g.64616050A>G | CA371335626 | CYP7B1 | c.491T>C (p.Val164Ala) c.557T>C (p.Val186Ala) | |
8 | g.64616050A>T | CA371335627 | CYP7B1 | c.491T>A (p.Val164Asp) c.557T>A (p.Val186Asp) | |
8 | g.64616051C>A | CA371335628 | CYP7B1 | c.490G>T (p.Val164Phe) c.556G>T (p.Val186Phe) | |
8 | g.64616051C= | CA1789664435 | CYP7B1 | c.490G= (p.Val164=) c.556G= (p.Val186=) | |
8 | g.64616051C>G | CA371335629 | CYP7B1 | c.490G>C (p.Val164Leu) c.556G>C (p.Val186Leu) | |
8 | g.64616051C>T | CA371335630 | CYP7B1 | c.490G>A (p.Val164Ile) c.556G>A (p.Val186Ile) | dbSNP gnomAD v4 |
8 | g.64616052T>A | CA371335631 | CYP7B1 | c.489A>T (p.Gln163His) c.555A>T (p.Gln185His) | |
8 | g.64616052T>C | CA461420391 | CYP7B1 | c.489A>G (p.Gln163=) c.555A>G (p.Gln185=) | |
8 | g.64616052T>G | CA371335632 | CYP7B1 | c.489A>C (p.Gln163His) c.555A>C (p.Gln185His) | gnomAD v4 |
8 | g.64616053T>A | CA371335635 | CYP7B1 | c.488A>T (p.Gln163Leu) c.554A>T (p.Gln185Leu) | |
8 | g.64616053T>C | CA371335634 | CYP7B1 | c.488A>G (p.Gln163Arg) c.554A>G (p.Gln185Arg) | |
8 | g.64616053T>G | CA371335633 | CYP7B1 | c.488A>C (p.Gln163Pro) c.554A>C (p.Gln185Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616053T= | CA1789664436 | CYP7B1 | c.488A= (p.Gln163=) c.554A= (p.Gln185=) | |
8 | g.64616054G>A | CA371335636 | CYP7B1 | c.487C>T (p.Gln163Ter) c.553C>T (p.Gln185Ter) | |
8 | g.64616054G>C | CA371335638 | CYP7B1 | c.487C>G (p.Gln163Glu) c.553C>G (p.Gln185Glu) | |
8 | g.64616054G= | CA1789664437 | CYP7B1 | c.487C= (p.Gln163=) c.553C= (p.Gln185=) | |
8 | g.64616054G>T | CA371335637 | CYP7B1 | c.487C>A (p.Gln163Lys) c.553C>A (p.Gln185Lys) | dbSNP |
8 | g.64616055T>A | CA371335639 | CYP7B1 | c.486A>T (p.Lys162Asn) c.552A>T (p.Lys184Asn) | |
8 | g.64616055T>C | CA461420394 | CYP7B1 | c.486A>G (p.Lys162=) c.552A>G (p.Lys184=) | ClinVar COSMIC |
8 | g.64616055T>G | CA371335640 | CYP7B1 | c.486A>C (p.Lys162Asn) c.552A>C (p.Lys184Asn) | |
8 | g.64616056T>A | CA371335641 | CYP7B1 | c.485A>T (p.Lys162Ile) c.551A>T (p.Lys184Ile) | |
8 | g.64616056T>C | CA371335642 | CYP7B1 | c.485A>G (p.Lys162Arg) c.551A>G (p.Lys184Arg) | |
8 | g.64616056T>G | CA371335643 | CYP7B1 | c.485A>C (p.Lys162Thr) c.551A>C (p.Lys184Thr) | |
8 | g.64616057T>A | CA371335644 | CYP7B1 | c.484A>T (p.Lys162Ter) c.550A>T (p.Lys184Ter) | |
8 | g.64616057T>C | CA371335645 | CYP7B1 | c.484A>G (p.Lys162Glu) c.550A>G (p.Lys184Glu) | |
8 | g.64616057T>G | CA371335646 | CYP7B1 | c.484A>C (p.Lys162Gln) c.550A>C (p.Lys184Gln) | |
8 | g.64616058T>A | CA461420398 | CYP7B1 | c.483A>T (p.Leu161=) c.549A>T (p.Leu183=) | |
8 | g.64616058T>C | CA461420397 | CYP7B1 | c.483A>G (p.Leu161=) c.549A>G (p.Leu183=) | |
8 | g.64616058T>G | CA461420396 | CYP7B1 | c.483A>C (p.Leu161=) c.549A>C (p.Leu183=) | |
8 | g.64616059A>C | CA371335647 | CYP7B1 | c.482T>G (p.Leu161Arg) c.548T>G (p.Leu183Arg) | |
8 | g.64616059A>G | CA371335648 | CYP7B1 | c.482T>C (p.Leu161Pro) c.548T>C (p.Leu183Pro) | |
8 | g.64616059A>T | CA371335649 | CYP7B1 | c.482T>A (p.Leu161Gln) c.548T>A (p.Leu183Gln) | |
8 | g.64616060G>A | CA461420402 | CYP7B1 | c.481C>T (p.Leu161=) c.547C>T (p.Leu183=) | |
8 | g.64616060G>C | CA371335650 | CYP7B1 | c.481C>G (p.Leu161Val) c.547C>G (p.Leu183Val) | |
8 | g.64616060G>T | CA371335651 | CYP7B1 | c.481C>A (p.Leu161Ile) c.547C>A (p.Leu183Ile) | |
8 | g.64616061A>C | CA371335652 | CYP7B1 | c.480T>G (p.Asn160Lys) c.546T>G (p.Asn182Lys) | |
8 | g.64616061A>G | CA461420403 | CYP7B1 | c.480T>C (p.Asn160=) c.546T>C (p.Asn182=) | |
8 | g.64616061A>T | CA371335653 | CYP7B1 | c.480T>A (p.Asn160Lys) c.546T>A (p.Asn182Lys) | |
8 | g.64616062T>A | CA371335654 | CYP7B1 | c.479A>T (p.Asn160Ile) c.545A>T (p.Asn182Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616062T>C | CA371335655 | CYP7B1 | c.479A>G (p.Asn160Ser) c.545A>G (p.Asn182Ser) | |
8 | g.64616062T>G | CA371335656 | CYP7B1 | c.479A>C (p.Asn160Thr) c.545A>C (p.Asn182Thr) | |
8 | g.64616062T= | CA1789664438 | CYP7B1 | c.479A= (p.Asn160=) c.545A= (p.Asn182=) | |
8 | g.64616063T>A | CA371335657 | CYP7B1 | c.478A>T (p.Asn160Tyr) c.544A>T (p.Asn182Tyr) | |
8 | g.64616063T>C | CA4764200 | CYP7B1 | c.478A>G (p.Asn160Asp) c.544A>G (p.Asn182Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616063T>G | CA371335658 | CYP7B1 | c.478A>C (p.Asn160His) c.544A>C (p.Asn182His) | |
8 | g.64616063T= | CA1789664439 | CYP7B1 | c.478A= (p.Asn160=) c.544A= (p.Asn182=) | |
8 | g.64616064C>A | CA371335659 | CYP7B1 | c.477G>T (p.Gln159His) c.543G>T (p.Gln181His) | |
8 | g.64616064C>G | CA371335660 | CYP7B1 | c.477G>C (p.Gln159His) c.543G>C (p.Gln181His) | |
8 | g.64616064C>T | CA461420405 | CYP7B1 | c.477G>A (p.Gln159=) c.543G>A (p.Gln181=) | |
8 | g.64616065T>A | CA371335661 | CYP7B1 | c.476A>T (p.Gln159Leu) c.542A>T (p.Gln181Leu) | |
8 | g.64616065T>C | CA371335662 | CYP7B1 | c.476A>G (p.Gln159Arg) c.542A>G (p.Gln181Arg) | |
8 | g.64616065T>G | CA4764201 | CYP7B1 | c.476A>C (p.Gln159Pro) c.542A>C (p.Gln181Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616065T= | CA1789664440 | CYP7B1 | c.476A= (p.Gln159=) c.542A= (p.Gln181=) | |
8 | g.64616066G>A | CA371335665 | CYP7B1 | c.475C>T (p.Gln159Ter) c.541C>T (p.Gln181Ter) | |
8 | g.64616066G>C | CA371335664 | CYP7B1 | c.475C>G (p.Gln159Glu) c.541C>G (p.Gln181Glu) | |
8 | g.64616066G>T | CA371335663 | CYP7B1 | c.475C>A (p.Gln159Lys) c.541C>A (p.Gln181Lys) | |
8 | g.64616067C>A | CA371335666 | CYP7B1 | c.474G>T (p.Met158Ile) c.540G>T (p.Met180Ile) | |
8 | g.64616067C>G | CA371335667 | CYP7B1 | c.474G>C (p.Met158Ile) c.540G>C (p.Met180Ile) | |
8 | g.64616067C>T | CA371335668 | CYP7B1 | c.474G>A (p.Met158Ile) c.540G>A (p.Met180Ile) | gnomAD v4 |
8 | g.64616068A= | CA1789664441 | CYP7B1 | c.473T= (p.Met158=) c.539T= (p.Met180=) | |
8 | g.64616068A>C | CA371335669 | CYP7B1 | c.473T>G (p.Met158Arg) c.539T>G (p.Met180Arg) | |
8 | g.64616068A>G | CA4764202 | CYP7B1 | c.473T>C (p.Met158Thr) c.539T>C (p.Met180Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616068A>T | CA371335670 | CYP7B1 | c.473T>A (p.Met158Lys) c.539T>A (p.Met180Lys) | ClinVar |
8 | g.64616069T>A | CA371335671 | CYP7B1 | c.472A>T (p.Met158Leu) c.538A>T (p.Met180Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616069T>C | CA371335672 | CYP7B1 | c.472A>G (p.Met158Val) c.538A>G (p.Met180Val) | |
8 | g.64616069T>G | CA371335673 | CYP7B1 | c.472A>C (p.Met158Leu) c.538A>C (p.Met180Leu) | |
8 | g.64616069T= | CA1789664442 | CYP7B1 | c.472A= (p.Met158=) c.538A= (p.Met180=) | |
8 | g.64616070C>A | CA371335674 | CYP7B1 | c.471G>T (p.Met157Ile) c.537G>T (p.Met179Ile) | |
8 | g.64616070C>G | CA371335675 | CYP7B1 | c.471G>C (p.Met157Ile) c.537G>C (p.Met179Ile) | |
8 | g.64616070C>T | CA371335676 | CYP7B1 | c.471G>A (p.Met157Ile) c.537G>A (p.Met179Ile) | |
8 | g.64616071A>C | CA371335679 | CYP7B1 | c.470T>G (p.Met157Arg) c.536T>G (p.Met179Arg) | |
8 | g.64616071A>G | CA371335678 | CYP7B1 | c.470T>C (p.Met157Thr) c.536T>C (p.Met179Thr) | |
8 | g.64616071A>T | CA371335677 | CYP7B1 | c.470T>A (p.Met157Lys) c.536T>A (p.Met179Lys) | |
8 | g.64616072T>A | CA371335680 | CYP7B1 | c.469A>T (p.Met157Leu) c.535A>T (p.Met179Leu) | |
8 | g.64616072T>C | CA371335681 | CYP7B1 | c.469A>G (p.Met157Val) c.535A>G (p.Met179Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616072T>G | CA371335682 | CYP7B1 | c.469A>C (p.Met157Leu) c.535A>C (p.Met179Leu) | |
8 | g.64616072T= | CA1789664443 | CYP7B1 | c.469A= (p.Met157=) c.535A= (p.Met179=) | |
8 | g.64616073G>A | CA461420414 | CYP7B1 | c.468C>T (p.Ser156=) c.534C>T (p.Ser178=) | |
8 | g.64616073G>C | CA371335683 | CYP7B1 | c.468C>G (p.Ser156Arg) c.534C>G (p.Ser178Arg) | |
8 | g.64616073G= | CA1789664444 | CYP7B1 | c.468C= (p.Ser156=) c.534C= (p.Ser178=) | |
8 | g.64616073G>T | CA371335684 | CYP7B1 | c.468C>A (p.Ser156Arg) c.534C>A (p.Ser178Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616074C>A | CA371335685 | CYP7B1 | c.467G>T (p.Ser156Ile) c.533G>T (p.Ser178Ile) | |
8 | g.64616074C= | CA1789664445 | CYP7B1 | c.467G= (p.Ser156=) c.533G= (p.Ser178=) | |
8 | g.64616074C>G | CA371335686 | CYP7B1 | c.467G>C (p.Ser156Thr) c.533G>C (p.Ser178Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616074C>T | CA371335687 | CYP7B1 | c.467G>A (p.Ser156Asn) c.533G>A (p.Ser178Asn) | COSMIC |
8 | g.64616075T>A | CA371335688 | CYP7B1 | c.466A>T (p.Ser156Cys) c.532A>T (p.Ser178Cys) | gnomAD v4 |
8 | g.64616075T>C | CA371335689 | CYP7B1 | c.466A>G (p.Ser156Gly) c.532A>G (p.Ser178Gly) | gnomAD v4 |
8 | g.64616075T>G | CA371335690 | CYP7B1 | c.466A>C (p.Ser156Arg) c.532A>C (p.Ser178Arg) | |
8 | g.64616076T>A | CA371335691 | CYP7B1 | c.465A>T (p.Glu155Asp) c.531A>T (p.Glu177Asp) | |
8 | g.64616076T>C | CA461420416 | CYP7B1 | c.465A>G (p.Glu155=) c.531A>G (p.Glu177=) | |
8 | g.64616076T>G | CA371335692 | CYP7B1 | c.465A>C (p.Glu155Asp) c.531A>C (p.Glu177Asp) | COSMIC |
8 | g.64616077T>A | CA371335694 | CYP7B1 | c.464A>T (p.Glu155Val) c.530A>T (p.Glu177Val) | |
8 | g.64616077T>C | CA371335695 | CYP7B1 | c.464A>G (p.Glu155Gly) c.530A>G (p.Glu177Gly) | |
8 | g.64616077T>G | CA371335693 | CYP7B1 | c.464A>C (p.Glu155Ala) c.530A>C (p.Glu177Ala) | |
8 | g.64616078C>A | CA371335696 | CYP7B1 | c.463G>T (p.Glu155Ter) c.529G>T (p.Glu177Ter) | COSMIC |
8 | g.64616078C= | CA1789664446 | CYP7B1 | c.463G= (p.Glu155=) c.529G= (p.Glu177=) | |
8 | g.64616078C>G | CA371335698 | CYP7B1 | c.463G>C (p.Glu155Gln) c.529G>C (p.Glu177Gln) | |
8 | g.64616078C>T | CA371335697 | CYP7B1 | c.463G>A (p.Glu155Lys) c.529G>A (p.Glu177Lys) | ClinVar dbSNP gnomAD v4 |
8 | g.64616079C>A | CA371335699 | CYP7B1 | c.462G>T (p.Leu154Phe) c.528G>T (p.Leu176Phe) | |
8 | g.64616079C= | CA1789664447 | CYP7B1 | c.462G= (p.Leu154=) c.528G= (p.Leu176=) | |
8 | g.64616079C>G | CA371335700 | CYP7B1 | c.462G>C (p.Leu154Phe) c.528G>C (p.Leu176Phe) | |
8 | g.64616079C>T | CA4764203 | CYP7B1 | c.462G>A (p.Leu154=) c.528G>A (p.Leu176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616080A>C | CA371335701 | CYP7B1 | c.461T>G (p.Leu154Trp) c.527T>G (p.Leu176Trp) | gnomAD v4 |
8 | g.64616080A>G | CA371335702 | CYP7B1 | c.461T>C (p.Leu154Ser) c.527T>C (p.Leu176Ser) | |
8 | g.64616080A>T | CA371335703 | CYP7B1 | c.461T>A (p.Leu154Ter) c.527T>A (p.Leu176Ter) | |
8 | g.64616081A>C | CA371335704 | CYP7B1 | c.460T>G (p.Leu154Val) c.526T>G (p.Leu176Val) | |
8 | g.64616081A>G | CA461420418 | CYP7B1 | c.460T>C (p.Leu154=) c.526T>C (p.Leu176=) | gnomAD v4 |
8 | g.64616081A>T | CA371335705 | CYP7B1 | c.460T>A (p.Leu154Met) c.526T>A (p.Leu176Met) | |
8 | g.64616082G>A | CA461420419 | CYP7B1 | c.459C>T (p.Leu153=) c.525C>T (p.Leu175=) | |
8 | g.64616082G>C | CA461420420 | CYP7B1 | c.459C>G (p.Leu153=) c.525C>G (p.Leu175=) | COSMIC |
8 | g.64616082G= | CA1789664448 | CYP7B1 | c.459C= (p.Leu153=) c.525C= (p.Leu175=) | |
8 | g.64616082G>T | CA461420421 | CYP7B1 | c.459C>A (p.Leu153=) c.525C>A (p.Leu175=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64616083A>C | CA371335706 | CYP7B1 | c.458T>G (p.Leu153Arg) c.524T>G (p.Leu175Arg) | |
8 | g.64616083A>G | CA371335707 | CYP7B1 | c.458T>C (p.Leu153Pro) c.524T>C (p.Leu175Pro) | |
8 | g.64616083A>T | CA371335708 | CYP7B1 | c.458T>A (p.Leu153His) c.524T>A (p.Leu175His) | |
8 | g.64616084G>A | CA371335710 | CYP7B1 | c.457C>T (p.Leu153Phe) c.523C>T (p.Leu175Phe) | gnomAD v4 |
8 | g.64616084G>C | CA371335709 | CYP7B1 | c.457C>G (p.Leu153Val) c.523C>G (p.Leu175Val) | |
8 | g.64616084G= | CA1789664449 | CYP7B1 | c.457C= (p.Leu153=) c.523C= (p.Leu175=) | |
8 | g.64616084G>T | CA4764204 | CYP7B1 | c.457C>A (p.Leu153Ile) c.523C>A (p.Leu175Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616085T>A | CA461420423 | CYP7B1 | c.456A>T (p.Ile152=) c.522A>T (p.Ile174=) | |
8 | g.64616085T>C | CA371335711 | CYP7B1 | c.456A>G (p.Ile152Met) c.522A>G (p.Ile174Met) | ClinVar dbSNP gnomAD v4 |
8 | g.64616085T>G | CA461420422 | CYP7B1 | c.456A>C (p.Ile152=) c.522A>C (p.Ile174=) | ClinVar gnomAD v4 |
8 | g.64616085T= | CA1789664450 | CYP7B1 | c.456A= (p.Ile152=) c.522A= (p.Ile174=) | |
8 | g.64616086A>C | CA371335712 | CYP7B1 | c.455T>G (p.Ile152Arg) c.521T>G (p.Ile174Arg) | |
8 | g.64616086A>G | CA371335713 | CYP7B1 | c.455T>C (p.Ile152Thr) c.521T>C (p.Ile174Thr) | |
8 | g.64616086A>T | CA371335714 | CYP7B1 | c.455T>A (p.Ile152Lys) c.521T>A (p.Ile174Lys) | |
8 | g.64616087T>A | CA371335715 | CYP7B1 | c.454A>T (p.Ile152Leu) c.520A>T (p.Ile174Leu) | gnomAD v4 |
8 | g.64616087T>C | CA371335716 | CYP7B1 | c.454A>G (p.Ile152Val) c.520A>G (p.Ile174Val) | |
8 | g.64616087T>G | CA371335717 | CYP7B1 | c.454A>C (p.Ile152Leu) c.520A>C (p.Ile174Leu) | |
8 | g.64616088G>A | CA461420424 | CYP7B1 | c.453C>T (p.Asp151=) c.519C>T (p.Asp173=) | |
8 | g.64616088G>C | CA371335718 | CYP7B1 | c.453C>G (p.Asp151Glu) c.519C>G (p.Asp173Glu) | |
8 | g.64616088G>T | CA371335719 | CYP7B1 | c.453C>A (p.Asp151Glu) c.519C>A (p.Asp173Glu) | |
8 | g.64616089T>A | CA371335720 | CYP7B1 | c.452A>T (p.Asp151Val) c.518A>T (p.Asp173Val) | |
8 | g.64616089T>C | CA371335721 | CYP7B1 | c.452A>G (p.Asp151Gly) c.518A>G (p.Asp173Gly) | |
8 | g.64616089T>G | CA371335722 | CYP7B1 | c.452A>C (p.Asp151Ala) c.518A>C (p.Asp173Ala) | |
8 | g.64616090C>A | CA371335723 | CYP7B1 | c.451G>T (p.Asp151Tyr) c.517G>T (p.Asp173Tyr) | |
8 | g.64616090C= | CA1789664451 | CYP7B1 | c.451G= (p.Asp151=) c.517G= (p.Asp173=) | |
8 | g.64616090C>G | CA178389736 | CYP7B1 | c.451G>C (p.Asp151His) c.517G>C (p.Asp173His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616090C>T | CA4764205 | CYP7B1 | c.451G>A (p.Asp151Asn) c.517G>A (p.Asp173Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616091C>A | CA371335725 | CYP7B1 | c.450G>T (p.Leu150Phe) c.516G>T (p.Leu172Phe) | |
8 | g.64616091C>G | CA371335724 | CYP7B1 | c.450G>C (p.Leu150Phe) c.516G>C (p.Leu172Phe) | gnomAD v4 |
8 | g.64616091C>T | CA461420425 | CYP7B1 | c.450G>A (p.Leu150=) c.516G>A (p.Leu172=) | COSMIC |
8 | g.64616092A>C | CA371335726 | CYP7B1 | c.449T>G (p.Leu150Trp) c.515T>G (p.Leu172Trp) | |
8 | g.64616092A>G | CA371335727 | CYP7B1 | c.449T>C (p.Leu150Ser) c.515T>C (p.Leu172Ser) | |
8 | g.64616092A>T | CA371335728 | CYP7B1 | c.449T>A (p.Leu150Ter) c.515T>A (p.Leu172Ter) | |
8 | g.64616093A>C | CA371335729 | CYP7B1 | c.448T>G (p.Leu150Val) c.514T>G (p.Leu172Val) | |
8 | g.64616093A>G | CA461420426 | CYP7B1 | c.448T>C (p.Leu150=) c.514T>C (p.Leu172=) | |
8 | g.64616093A>T | CA371335730 | CYP7B1 | c.448T>A (p.Leu150Met) c.514T>A (p.Leu172Met) | |
8 | g.64616094A= | CA1789664452 | CYP7B1 | c.447T= (p.Ser149=) c.513T= (p.Ser171=) | |
8 | g.64616094A>C | CA4764206 | CYP7B1 | c.447T>G (p.Ser149=) c.513T>G (p.Ser171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616094A>G | CA461420427 | CYP7B1 | c.447T>C (p.Ser149=) c.513T>C (p.Ser171=) | |
8 | g.64616094A>T | CA461420428 | CYP7B1 | c.447T>A (p.Ser149=) c.513T>A (p.Ser171=) | |
8 | g.64616095G>A | CA371335731 | CYP7B1 | c.446C>T (p.Ser149Phe) c.512C>T (p.Ser171Phe) | COSMIC |
8 | g.64616095G>C | CA371335732 | CYP7B1 | c.446C>G (p.Ser149Cys) c.512C>G (p.Ser171Cys) | |
8 | g.64616095G= | CA1789664453 | CYP7B1 | c.446C= (p.Ser149=) c.512C= (p.Ser171=) | |
8 | g.64616095G>T | CA4764207 | CYP7B1 | c.446C>A (p.Ser149Tyr) c.512C>A (p.Ser171Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.64616096A>C | CA371335733 | CYP7B1 | c.445T>G (p.Ser149Ala) c.511T>G (p.Ser171Ala) | |
8 | g.64616096A>G | CA371335734 | CYP7B1 | c.445T>C (p.Ser149Pro) c.511T>C (p.Ser171Pro) | |
8 | g.64616096A>T | CA371335735 | CYP7B1 | c.445T>A (p.Ser149Thr) c.511T>A (p.Ser171Thr) | |
8 | g.64616097T>A | CA371335737 | CYP7B1 | c.444A>T (p.Lys148Asn) c.510A>T (p.Lys170Asn) | |
8 | g.64616097T>C | CA4764208 | CYP7B1 | c.444A>G (p.Lys148=) c.510A>G (p.Lys170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616097T>G | CA371335736 | CYP7B1 | c.444A>C (p.Lys148Asn) c.510A>C (p.Lys170Asn) | |
8 | g.64616097T= | CA1789664454 | CYP7B1 | c.444A= (p.Lys148=) c.510A= (p.Lys170=) | |
8 | g.64616098T>A | CA371335738 | CYP7B1 | c.443A>T (p.Lys148Ile) c.509A>T (p.Lys170Ile) | |
8 | g.64616098T>C | CA371335739 | CYP7B1 | c.443A>G (p.Lys148Arg) c.509A>G (p.Lys170Arg) | dbSNP |
8 | g.64616098T>G | CA371335740 | CYP7B1 | c.443A>C (p.Lys148Thr) c.509A>C (p.Lys170Thr) | |
8 | g.64616098T= | CA1789664455 | CYP7B1 | c.443A= (p.Lys148=) c.509A= (p.Lys170=) | |
8 | g.64616098_64616101delinsG | CA2695209516 | CYP7B1 | c.440_443delinsC (p.Gly147_Lys148delinsAla) c.506_509delinsC (p.Gly169_Lys170delinsAla) | |
8 | g.64616099T>A | CA371335741 | CYP7B1 | c.442A>T (p.Lys148Ter) c.508A>T (p.Lys170Ter) | |
8 | g.64616099T>C | CA371335742 | CYP7B1 | c.442A>G (p.Lys148Glu) c.508A>G (p.Lys170Glu) | |
8 | g.64616099T>G | CA371335743 | CYP7B1 | c.442A>C (p.Lys148Gln) c.508A>C (p.Lys170Gln) | |
8 | g.64616100G>A | CA4764209 | CYP7B1 | c.441C>T (p.Gly147=) c.507C>T (p.Gly169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616100G>C | CA461420429 | CYP7B1 | c.441C>G (p.Gly147=) c.507C>G (p.Gly169=) | |
8 | g.64616100G= | CA1789664456 | CYP7B1 | c.441C= (p.Gly147=) c.507C= (p.Gly169=) | |
8 | g.64616100G>T | CA461420430 | CYP7B1 | c.441C>A (p.Gly147=) c.507C>A (p.Gly169=) | |
8 | g.64616101C>A | CA371335744 | CYP7B1 | c.440G>T (p.Gly147Val) c.506G>T (p.Gly169Val) | |
8 | g.64616101C= | CA1789664457 | CYP7B1 | c.440G= (p.Gly147=) c.506G= (p.Gly169=) | |
8 | g.64616101C>G | CA371335745 | CYP7B1 | c.440G>C (p.Gly147Ala) c.506G>C (p.Gly169Ala) | |
8 | g.64616101C>T | CA4764210 | CYP7B1 | c.440G>A (p.Gly147Asp) c.506G>A (p.Gly169Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616102C>A | CA371335746 | CYP7B1 | c.439G>T (p.Gly147Cys) c.505G>T (p.Gly169Cys) | |
8 | g.64616102C>G | CA371335747 | CYP7B1 | c.439G>C (p.Gly147Arg) c.505G>C (p.Gly169Arg) | |
8 | g.64616102C>T | CA371335748 | CYP7B1 | c.439G>A (p.Gly147Ser) c.505G>A (p.Gly169Ser) | |
8 | g.64616103T>A | CA371335750 | CYP7B1 | c.438A>T (p.Gln146His) c.504A>T (p.Gln168His) | |
8 | g.64616103T>C | CA4764211 | CYP7B1 | c.438A>G (p.Gln146=) c.504A>G (p.Gln168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616103T>G | CA371335749 | CYP7B1 | c.438A>C (p.Gln146His) c.504A>C (p.Gln168His) | |
8 | g.64616103T= | CA1789664458 | CYP7B1 | c.438A= (p.Gln146=) c.504A= (p.Gln168=) | |
8 | g.64616104T>A | CA371335751 | CYP7B1 | c.437A>T (p.Gln146Leu) c.503A>T (p.Gln168Leu) | |
8 | g.64616104T>C | CA371335753 | CYP7B1 | c.437A>G (p.Gln146Arg) c.503A>G (p.Gln168Arg) | gnomAD v4 |
8 | g.64616104T>G | CA371335752 | CYP7B1 | c.437A>C (p.Gln146Pro) c.503A>C (p.Gln168Pro) | |
8 | g.64616105G>A | CA371335754 | CYP7B1 | c.436C>T (p.Gln146Ter) c.502C>T (p.Gln168Ter) | dbSNP |
8 | g.64616105G>C | CA371335755 | CYP7B1 | c.436C>G (p.Gln146Glu) c.502C>G (p.Gln168Glu) | |
8 | g.64616105G= | CA1789664459 | CYP7B1 | c.436C= (p.Gln146=) c.502C= (p.Gln168=) | |
8 | g.64616105G>T | CA371335756 | CYP7B1 | c.436C>A (p.Gln146Lys) c.502C>A (p.Gln168Lys) | |
8 | g.64616106C>A | CA371335757 | CYP7B1 | c.435G>T (p.Leu145Phe) c.501G>T (p.Leu167Phe) | |
8 | g.64616106C= | CA1789664460 | CYP7B1 | c.435G= (p.Leu145=) c.501G= (p.Leu167=) | |
8 | g.64616106C>G | CA371335758 | CYP7B1 | c.435G>C (p.Leu145Phe) c.501G>C (p.Leu167Phe) | |
8 | g.64616106C>T | CA461420431 | CYP7B1 | c.435G>A (p.Leu145=) c.501G>A (p.Leu167=) | dbSNP |
8 | g.64616107A>C | CA371335759 | CYP7B1 | c.434T>G (p.Leu145Trp) c.500T>G (p.Leu167Trp) | |
8 | g.64616107A>G | CA371335760 | CYP7B1 | c.434T>C (p.Leu145Ser) c.500T>C (p.Leu167Ser) | |
8 | g.64616107A>T | CA371335761 | CYP7B1 | c.434T>A (p.Leu145Ter) c.500T>A (p.Leu167Ter) | |
8 | g.64616111del | CA2695209517 | CYP7B1 | c.434del (p.Leu145CysfsTer13) c.500del (p.Leu167CysfsTer13) | |
8 | g.64616108A= | CA1789664461 | CYP7B1 | c.433T= (p.Leu145=) c.499T= (p.Leu167=) | |
8 | g.64616108A>C | CA371335762 | CYP7B1 | c.433T>G (p.Leu145Val) c.499T>G (p.Leu167Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64616108A>G | CA461420432 | CYP7B1 | c.433T>C (p.Leu145=) c.499T>C (p.Leu167=) | |
8 | g.64616108A>T | CA371335763 | CYP7B1 | c.433T>A (p.Leu145Met) c.499T>A (p.Leu167Met) | |
8 | g.64616109A>C | CA371335764 | CYP7B1 | c.432T>G (p.Phe144Leu) c.498T>G (p.Phe166Leu) | |
8 | g.64616109A>G | CA461420433 | CYP7B1 | c.432T>C (p.Phe144=) c.498T>C (p.Phe166=) | |
8 | g.64616109A>T | CA371335765 | CYP7B1 | c.432T>A (p.Phe144Leu) c.498T>A (p.Phe166Leu) | |
8 | g.64616110A>C | CA371335768 | CYP7B1 | c.431T>G (p.Phe144Cys) c.497T>G (p.Phe166Cys) | |
8 | g.64616110A>G | CA371335766 | CYP7B1 | c.431T>C (p.Phe144Ser) c.497T>C (p.Phe166Ser) | |
8 | g.64616110A>T | CA371335767 | CYP7B1 | c.431T>A (p.Phe144Tyr) c.497T>A (p.Phe166Tyr) | |
8 | g.64616111A= | CA1789664462 | CYP7B1 | c.430T= (p.Phe144=) c.496T= (p.Phe166=) | |
8 | g.64616111A>C | CA4764212 | CYP7B1 | c.430T>G (p.Phe144Val) c.496T>G (p.Phe166Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64616111A>G | CA371335769 | CYP7B1 | c.430T>C (p.Phe144Leu) c.496T>C (p.Phe166Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64616111A>T | CA371335770 | CYP7B1 | c.430T>A (p.Phe144Ile) c.496T>A (p.Phe166Ile) | |
8 | g.64616112T>A | CA371335771 | CYP7B1 | c.429A>T (p.Gln143His) c.495A>T (p.Gln165His) | |
8 | g.64616112T>C | CA4764213 | CYP7B1 | c.429A>G (p.Gln143=) c.495A>G (p.Gln165=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.64616112T>G | CA371335772 | CYP7B1 | c.429A>C (p.Gln143His) c.495A>C (p.Gln165His) | |
8 | g.64616112T= | CA1789664463 | CYP7B1 | c.429A= (p.Gln143=) c.495A= (p.Gln165=) | |
8 | g.64616113T>A | CA371335773 | CYP7B1 | c.428A>T (p.Gln143Leu) c.494A>T (p.Gln165Leu) | |
8 | g.64616113T>C | CA371335774 | CYP7B1 | c.428A>G (p.Gln143Arg) c.494A>G (p.Gln165Arg) | |
8 | g.64616113T>G | CA371335775 | CYP7B1 | c.428A>C (p.Gln143Pro) c.494A>C (p.Gln165Pro) | |
8 | g.64616114G>A | CA371335776 | CYP7B1 | c.427C>T (p.Gln143Ter) c.493C>T (p.Gln165Ter) | |
8 | g.64616114G>C | CA371335777 | CYP7B1 | c.427C>G (p.Gln143Glu) c.493C>G (p.Gln165Glu) | |
8 | g.64616114G>T | CA371335778 | CYP7B1 | c.427C>A (p.Gln143Lys) c.493C>A (p.Gln165Lys) | |
8 | g.64616115A>C | CA371335779 | CYP7B1 | c.426T>G (p.Tyr142Ter) c.492T>G (p.Tyr164Ter) | |
8 | g.64616115A>G | CA461420434 | CYP7B1 | c.426T>C (p.Tyr142=) c.492T>C (p.Tyr164=) | gnomAD v4 |
8 | g.64616115A>T | CA371335780 | CYP7B1 | c.426T>A (p.Tyr142Ter) c.492T>A (p.Tyr164Ter) | COSMIC |
8 | g.64616116T>A | CA371335781 | CYP7B1 | c.425A>T (p.Tyr142Phe) c.491A>T (p.Tyr164Phe) | |
8 | g.64616116T>C | CA371335782 | CYP7B1 | c.425A>G (p.Tyr142Cys) c.491A>G (p.Tyr164Cys) | ClinVar dbSNP gnomAD v4 |
8 | g.64616116T>G | CA371335783 | CYP7B1 | c.425A>C (p.Tyr142Ser) c.491A>C (p.Tyr164Ser) | COSMIC |
8 | g.64616116T= | CA1789664464 | CYP7B1 | c.425A= (p.Tyr142=) c.491A= (p.Tyr164=) | |
8 | g.64616117A>C | CA371335784 | CYP7B1 | c.424T>G (p.Tyr142Asp) c.490T>G (p.Tyr164Asp) | |
8 | g.64616117A>G | CA371335785 | CYP7B1 | c.424T>C (p.Tyr142His) c.490T>C (p.Tyr164His) | |
8 | g.64616117A>T | CA371335786 | CYP7B1 | c.424T>A (p.Tyr142Asn) c.490T>A (p.Tyr164Asn) | |
8 | g.64616117_64616118delinsGT | CA2739268836 | CYP7B1 | c.423_424delinsAC (p.Cys141Ter) c.489_490delinsAC (p.Cys163Ter) | ClinVar |
8 | g.64616118G>A | CA461420435 | CYP7B1 | c.423C>T (p.Cys141=) c.489C>T (p.Cys163=) | |
8 | g.64616118G>C | CA371335788 | CYP7B1 | c.423C>G (p.Cys141Trp) c.489C>G (p.Cys163Trp) | |
8 | g.64616118G>T | CA371335787 | CYP7B1 | c.423C>A (p.Cys141Ter) c.489C>A (p.Cys163Ter) | |
8 | g.64616119C>A | CA371335789 | CYP7B1 | c.422G>T (p.Cys141Phe) c.488G>T (p.Cys163Phe) | |
8 | g.64616119C>G | CA371335790 | CYP7B1 | c.422G>C (p.Cys141Ser) c.488G>C (p.Cys163Ser) | |
8 | g.64616119C>T | CA371335791 | CYP7B1 | c.422G>A (p.Cys141Tyr) c.488G>A (p.Cys163Tyr) | |
8 | g.64616120A>C | CA371335792 | CYP7B1 | c.421T>G (p.Cys141Gly) c.487T>G (p.Cys163Gly) | |
8 | g.64616120A>G | CA371335793 | CYP7B1 | c.421T>C (p.Cys141Arg) c.487T>C (p.Cys163Arg) | |
8 | g.64616120A>T | CA371335794 | CYP7B1 | c.421T>A (p.Cys141Ser) c.487T>A (p.Cys163Ser) | |
8 | g.64616120dup | CA2573143286 | CYP7B1 | c.421dup (p.Cys141LeufsTer26) c.487dup (p.Cys163LeufsTer26) | ClinVar dbSNP |
8 | g.64616121G>A | CA461420436 | CYP7B1 | c.420C>T (p.Leu140=) c.486C>T (p.Leu162=) | |
8 | g.64616121G>C | CA461420437 | CYP7B1 | c.420C>G (p.Leu140=) c.486C>G (p.Leu162=) | |
8 | g.64616121G>T | CA461420438 | CYP7B1 | c.420C>A (p.Leu140=) c.486C>A (p.Leu162=) | |
8 | g.64616122A>C | CA371335795 | CYP7B1 | c.419T>G (p.Leu140Arg) c.485T>G (p.Leu162Arg) | |
8 | g.64616122A>G | CA371335797 | CYP7B1 | c.419T>C (p.Leu140Pro) c.485T>C (p.Leu162Pro) | |
8 | g.64616122A>T | CA371335796 | CYP7B1 | c.419T>A (p.Leu140His) c.485T>A (p.Leu162His) | |
8 | g.64616123G>A | CA371335798 | CYP7B1 | c.418C>T (p.Leu140Phe) c.484C>T (p.Leu162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.64616123G>C | CA371335799 | CYP7B1 | c.418C>G (p.Leu140Val) c.484C>G (p.Leu162Val) | |
8 | g.64616123G= | CA1789664465 | CYP7B1 | c.418C= (p.Leu140=) c.484C= (p.Leu162=) | |
8 | g.64616123G>T | CA371335800 | CYP7B1 | c.418C>A (p.Leu140Ile) c.484C>A (p.Leu162Ile) | |
8 | g.64616124del | CA2740095057 | CYP7B1 | c.418del (p.Leu140SerfsTer18) c.484del (p.Leu162SerfsTer18) | ClinVar |
8 | g.64616124G>A | CA461421859 | CYP7B1 | c.417C>T (p.His139=) c.483C>T (p.His161=) | |
8 | g.64616124G>C | CA371335801 | CYP7B1 | c.417C>G (p.His139Gln) c.483C>G (p.His161Gln) | gnomAD v4 |
8 | g.64616124G>T | CA371335802 | CYP7B1 | c.417C>A (p.His139Gln) c.483C>A (p.His161Gln) | |
8 | g.64616125T>A | CA371335803 | CYP7B1 | c.416A>T (p.His139Leu) c.482A>T (p.His161Leu) | ClinVar |
8 | g.64616125T>C | CA371335804 | CYP7B1 | c.416A>G (p.His139Arg) c.482A>G (p.His161Arg) | |
8 | g.64616125T>G | CA371335805 | CYP7B1 | c.416A>C (p.His139Pro) c.482A>C (p.His161Pro) | |
8 | g.64616126G>A | CA371335806 | CYP7B1 | c.415C>T (p.His139Tyr) c.481C>T (p.His161Tyr) | |
8 | g.64616126G>C | CA371335807 | CYP7B1 | c.415C>G (p.His139Asp) c.481C>G (p.His161Asp) | |
8 | g.64616126G>T | CA371335808 | CYP7B1 | c.415C>A (p.His139Asn) c.481C>A (p.His161Asn) | |
8 | g.64616127A>C | CA461421875 | CYP7B1 | c.414T>G (p.Leu138=) c.480T>G (p.Leu160=) | |
8 | g.64616127A>G | CA461421877 | CYP7B1 | c.414T>C (p.Leu138=) c.480T>C (p.Leu160=) | |
8 | g.64616127A>T | CA461421878 | CYP7B1 | c.414T>A (p.Leu138=) c.480T>A (p.Leu160=) | |
8 | g.64616128A>C | CA371335809 | CYP7B1 | c.413T>G (p.Leu138Arg) c.479T>G (p.Leu160Arg) | |
8 | g.64616128A>G | CA371335811 | CYP7B1 | c.413T>C (p.Leu138Pro) c.479T>C (p.Leu160Pro) | COSMIC |
8 | g.64616128A>T | CA371335810 | CYP7B1 | c.413T>A (p.Leu138His) c.479T>A (p.Leu160His) | |
8 | g.64616129G>A | CA371335812 | CYP7B1 | c.412C>T (p.Leu138Phe) c.478C>T (p.Leu160Phe) | gnomAD v4 |
8 | g.64616129G>C | CA371335813 | CYP7B1 | c.412C>G (p.Leu138Val) c.478C>G (p.Leu160Val) | |
8 | g.64616129G>T | CA371335814 | CYP7B1 | c.412C>A (p.Leu138Ile) c.478C>A (p.Leu160Ile) | gnomAD v4 |