UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154993044del | CA2499226520 | F8 | c.494del (p.Pro165GlnfsTer20) c.*280del (n.*280del) c.389del (p.Pro130GlnfsTer20) c.476del (p.Pro159GlnfsTer?) | ClinVar dbSNP |
| X | g.154993044G>A | CA255065 | F8 | c.493C>T (p.Pro165Ser) c.*279C>T (n.*279C>T) c.388C>T (p.Pro130Ser) c.475C>T (p.Pro159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154993044G>C | CA414919595 | F8 | c.493C>G (p.Pro165Ala) c.*279C>G (n.*279C>G) c.388C>G (p.Pro130Ala) c.475C>G (p.Pro159Ala) | |
| X | g.154993044G= | CA2466856534 | F8 | c.493C= (p.Pro165=) c.*279C= (n.*279C=) c.388C= (p.Pro130=) c.475C= (p.Pro159=) | |
| X | g.154993044G>T | CA414919596 | F8 | c.493C>A (p.Pro165Thr) c.*279C>A (n.*279C>A) c.388C>A (p.Pro130Thr) c.475C>A (p.Pro159Thr) | |
| X | g.154993045A>C | CA519372649 | F8 | c.492T>G (p.Gly164=) c.*278T>G (n.*278T>G) c.387T>G (p.Gly129=) c.474T>G (p.Gly158=) | |
| X | g.154993045A>G | CA519372655 | F8 | c.492T>C (p.Gly164=) c.*278T>C (n.*278T>C) c.387T>C (p.Gly129=) c.474T>C (p.Gly158=) | |
| X | g.154993045A>T | CA519372658 | F8 | c.492T>A (p.Gly164=) c.*278T>A (n.*278T>A) c.387T>A (p.Gly129=) c.474T>A (p.Gly158=) | |
| X | g.154993046C>A | CA255064 | F8 | c.491G>T (p.Gly164Val) c.*277G>T (n.*277G>T) c.386G>T (p.Gly129Val) c.473G>T (p.Gly158Val) | ClinVar dbSNP |
| X | g.154993046C= | CA2466856535 | F8 | c.491G= (p.Gly164=) c.*277G= (n.*277G=) c.386G= (p.Gly129=) c.473G= (p.Gly158=) | |
| X | g.154993046C>G | CA414919597 | F8 | c.491G>C (p.Gly164Ala) c.*277G>C (n.*277G>C) c.386G>C (p.Gly129Ala) c.473G>C (p.Gly158Ala) | |
| X | g.154993046C>T | CA414919598 | F8 | c.491G>A (p.Gly164Asp) c.*277G>A (n.*277G>A) c.386G>A (p.Gly129Asp) c.473G>A (p.Gly158Asp) | dbSNP gnomAD v2 |
| X | g.154993047C>A | CA414919600 | F8 | c.490G>T (p.Gly164Cys) c.*276G>T (n.*276G>T) c.385G>T (p.Gly129Cys) c.472G>T (p.Gly158Cys) | dbSNP |
| X | g.154993047C= | CA2466856536 | F8 | c.490G= (p.Gly164=) c.*276G= (n.*276G=) c.385G= (p.Gly129=) c.472G= (p.Gly158=) | |
| X | g.154993047C>G | CA414919601 | F8 | c.490G>C (p.Gly164Arg) c.*276G>C (n.*276G>C) c.385G>C (p.Gly129Arg) c.472G>C (p.Gly158Arg) | |
| X | g.154993047C>T | CA414919599 | F8 | c.490G>A (p.Gly164Ser) c.*276G>A (n.*276G>A) c.385G>A (p.Gly129Ser) c.472G>A (p.Gly158Ser) | dbSNP |
| X | g.154993048A>C | CA414919603 | F8 | c.489T>G (p.Asn163Lys) c.*275T>G (n.*275T>G) c.384T>G (p.Asn128Lys) c.471T>G (p.Asn157Lys) | |
| X | g.154993048A>G | CA519372683 | F8 | c.489T>C (p.Asn163=) c.*275T>C (n.*275T>C) c.384T>C (p.Asn128=) c.471T>C (p.Asn157=) | |
| X | g.154993048A>T | CA414919602 | F8 | c.489T>A (p.Asn163Lys) c.*275T>A (n.*275T>A) c.384T>A (p.Asn128Lys) c.471T>A (p.Asn157Lys) | |
| X | g.154993048_154993049delinsAT | CA2466856537 | F8 | c.488_489delinsAT (p.Asn163=) c.*274_*275delinsAT (n.*274_*275delinsAT) c.383_384delinsAT (p.Asn128=) c.470_471delinsAT (p.Asn157=) | |
| X | g.154993049T>A | CA414919604 | F8 | c.488A>T (p.Asn163Ile) c.*274A>T (n.*274A>T) c.383A>T (p.Asn128Ile) c.470A>T (p.Asn157Ile) | |
| X | g.154993049T>C | CA414919605 | F8 | c.488A>G (p.Asn163Ser) c.*274A>G (n.*274A>G) c.383A>G (p.Asn128Ser) c.470A>G (p.Asn157Ser) | |
| X | g.154993049T>G | CA414919606 | F8 | c.488A>C (p.Asn163Thr) c.*274A>C (n.*274A>C) c.383A>C (p.Asn128Thr) c.470A>C (p.Asn157Thr) | |
| X | g.154993050del | CA873356039 | F8 | c.488del (p.Asn163MetfsTer22) c.*274del (n.*274del) c.383del (p.Asn128MetfsTer22) c.470del (p.Asn157MetfsTer?) | dbSNP |
| X | g.154993050T>A | CA414919607 | F8 | c.487A>T (p.Asn163Tyr) c.*273A>T (n.*273A>T) c.382A>T (p.Asn128Tyr) c.469A>T (p.Asn157Tyr) | |
| X | g.154993050T>C | CA414919608 | F8 | c.487A>G (p.Asn163Asp) c.*273A>G (n.*273A>G) c.382A>G (p.Asn128Asp) c.469A>G (p.Asn157Asp) | |
| X | g.154993050T>G | CA414919609 | F8 | c.487A>C (p.Asn163His) c.*273A>C (n.*273A>C) c.382A>C (p.Asn128His) c.469A>C (p.Asn157His) | |
| X | g.154993053_154993054del | CA2695238456 | F8 | c.486_487del (p.Asn163TrpfsTer6) c.*272_*273del (n.*272_*273del) c.381_382del (p.Asn128TrpfsTer6) c.468_469del (p.Asn157TrpfsTer6) | |
| X | g.154993051C>A | CA414919610 | F8 | c.486G>T (p.Glu162Asp) c.*272G>T (n.*272G>T) c.381G>T (p.Glu127Asp) c.468G>T (p.Glu156Asp) | |
| X | g.154993051C= | CA2466856538 | F8 | c.486G= (p.Glu162=) c.*272G= (n.*272G=) c.381G= (p.Glu127=) c.468G= (p.Glu156=) | |
| X | g.154993051C>G | CA414919611 | F8 | c.486G>C (p.Glu162Asp) c.*272G>C (n.*272G>C) c.381G>C (p.Glu127Asp) c.468G>C (p.Glu156Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993051C>T | CA519372694 | F8 | c.486G>A (p.Glu162=) c.*272G>A (n.*272G>A) c.381G>A (p.Glu127=) c.468G>A (p.Glu156=) | |
| X | g.154993052T>A | CA414919612 | F8 | c.485A>T (p.Glu162Val) c.*271A>T (n.*271A>T) c.380A>T (p.Glu127Val) c.467A>T (p.Glu156Val) | |
| X | g.154993052T>C | CA414919613 | F8 | c.485A>G (p.Glu162Gly) c.*271A>G (n.*271A>G) c.380A>G (p.Glu127Gly) c.467A>G (p.Glu156Gly) | |
| X | g.154993052T>G | CA414919614 | F8 | c.485A>C (p.Glu162Ala) c.*271A>C (n.*271A>C) c.380A>C (p.Glu127Ala) c.467A>C (p.Glu156Ala) | |
| X | g.154993053C>A | CA414919617 | F8 | c.484G>T (p.Glu162Ter) c.*270G>T (n.*270G>T) c.379G>T (p.Glu127Ter) c.466G>T (p.Glu156Ter) | |
| X | g.154993053C>G | CA414919615 | F8 | c.484G>C (p.Glu162Gln) c.*270G>C (n.*270G>C) c.379G>C (p.Glu127Gln) c.466G>C (p.Glu156Gln) | |
| X | g.154993053C>T | CA414919616 | F8 | c.484G>A (p.Glu162Lys) c.*270G>A (n.*270G>A) c.379G>A (p.Glu127Lys) c.466G>A (p.Glu156Lys) | |
| X | g.154993054T>A | CA414919618 | F8 | c.483A>T (p.Lys161Asn) c.*269A>T (n.*269A>T) c.378A>T (p.Lys126Asn) c.465A>T (p.Lys155Asn) | |
| X | g.154993054T>C | CA10568582 | F8 | c.483A>G (p.Lys161=) c.*269A>G (n.*269A>G) c.378A>G (p.Lys126=) c.465A>G (p.Lys155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993054T>G | CA414919619 | F8 | c.483A>C (p.Lys161Asn) c.*269A>C (n.*269A>C) c.378A>C (p.Lys126Asn) c.465A>C (p.Lys155Asn) | |
| X | g.154993054T= | CA2466856539 | F8 | c.483A= (p.Lys161=) c.*269A= (n.*269A=) c.378A= (p.Lys126=) c.465A= (p.Lys155=) | |
| X | g.154993055T>A | CA414919620 | F8 | c.482A>T (p.Lys161Ile) c.*268A>T (n.*268A>T) c.377A>T (p.Lys126Ile) c.464A>T (p.Lys155Ile) | |
| X | g.154993055T>C | CA414919621 | F8 | c.482A>G (p.Lys161Arg) c.*268A>G (n.*268A>G) c.377A>G (p.Lys126Arg) c.464A>G (p.Lys155Arg) | |
| X | g.154993055T>G | CA414919622 | F8 | c.482A>C (p.Lys161Thr) c.*268A>C (n.*268A>C) c.377A>C (p.Lys126Thr) c.464A>C (p.Lys155Thr) | |
| X | g.154993056T>A | CA414919623 | F8 | c.481A>T (p.Lys161Ter) c.*267A>T (n.*267A>T) c.376A>T (p.Lys126Ter) c.463A>T (p.Lys155Ter) | |
| X | g.154993056T>C | CA414919624 | F8 | c.481A>G (p.Lys161Glu) c.*267A>G (n.*267A>G) c.376A>G (p.Lys126Glu) c.463A>G (p.Lys155Glu) | |
| X | g.154993056T>G | CA414919625 | F8 | c.481A>C (p.Lys161Gln) c.*267A>C (n.*267A>C) c.376A>C (p.Lys126Gln) c.463A>C (p.Lys155Gln) | |
| X | g.154993057C>A | CA519372727 | F8 | c.480G>T (p.Leu160=) c.*266G>T (n.*266G>T) c.375G>T (p.Leu125=) c.462G>T (p.Leu154=) | |
| X | g.154993057C>G | CA519372730 | F8 | c.480G>C (p.Leu160=) c.*266G>C (n.*266G>C) c.375G>C (p.Leu125=) c.462G>C (p.Leu154=) | |
| X | g.154993057C>T | CA519372733 | F8 | c.480G>A (p.Leu160=) c.*266G>A (n.*266G>A) c.375G>A (p.Leu125=) c.462G>A (p.Leu154=) | |
| X | g.154993058A>C | CA414919626 | F8 | c.479T>G (p.Leu160Arg) c.*265T>G (n.*265T>G) c.374T>G (p.Leu125Arg) c.461T>G (p.Leu154Arg) | |
| X | g.154993058A>G | CA414919627 | F8 | c.479T>C (p.Leu160Pro) c.*265T>C (n.*265T>C) c.374T>C (p.Leu125Pro) c.461T>C (p.Leu154Pro) | |
| X | g.154993058A>T | CA414919628 | F8 | c.479T>A (p.Leu160Gln) c.*265T>A (n.*265T>A) c.374T>A (p.Leu125Gln) c.461T>A (p.Leu154Gln) | |
| X | g.154993059G>A | CA519372734 | F8 | c.478C>T (p.Leu160=) c.*264C>T (n.*264C>T) c.373C>T (p.Leu125=) c.460C>T (p.Leu154=) | gnomAD v4 |
| X | g.154993059G>C | CA414919629 | F8 | c.478C>G (p.Leu160Val) c.*264C>G (n.*264C>G) c.373C>G (p.Leu125Val) c.460C>G (p.Leu154Val) | |
| X | g.154993059G>T | CA414919630 | F8 | c.478C>A (p.Leu160Met) c.*264C>A (n.*264C>A) c.373C>A (p.Leu125Met) c.460C>A (p.Leu154Met) | |
| X | g.154993060G>A | CA519372738 | F8 | c.477C>T (p.Val159=) c.*263C>T (n.*263C>T) c.372C>T (p.Val124=) c.459C>T (p.Val153=) | |
| X | g.154993060G>C | CA519372739 | F8 | c.477C>G (p.Val159=) c.*263C>G (n.*263C>G) c.372C>G (p.Val124=) c.459C>G (p.Val153=) | |
| X | g.154993060G>T | CA519372743 | F8 | c.477C>A (p.Val159=) c.*263C>A (n.*263C>A) c.372C>A (p.Val124=) c.459C>A (p.Val153=) | |
| X | g.154993061A>C | CA414919631 | F8 | c.476T>G (p.Val159Gly) c.*262T>G (n.*262T>G) c.371T>G (p.Val124Gly) c.458T>G (p.Val153Gly) | |
| X | g.154993061A>G | CA414919632 | F8 | c.476T>C (p.Val159Ala) c.*262T>C (n.*262T>C) c.371T>C (p.Val124Ala) c.458T>C (p.Val153Ala) | ClinVar dbSNP |
| X | g.154993061A>T | CA414919633 | F8 | c.476T>A (p.Val159Asp) c.*262T>A (n.*262T>A) c.371T>A (p.Val124Asp) c.458T>A (p.Val153Asp) | ClinVar |
| X | g.154993062C>A | CA414919634 | F8 | c.475G>T (p.Val159Phe) c.*261G>T (n.*261G>T) c.370G>T (p.Val124Phe) c.457G>T (p.Val153Phe) | |
| X | g.154993062C>G | CA414919635 | F8 | c.475G>C (p.Val159Leu) c.*261G>C (n.*261G>C) c.370G>C (p.Val124Leu) c.457G>C (p.Val153Leu) | |
| X | g.154993062C>T | CA414919636 | F8 | c.475G>A (p.Val159Ile) c.*261G>A (n.*261G>A) c.370G>A (p.Val124Ile) c.457G>A (p.Val153Ile) | |
| X | g.154993063C>A | CA414919637 | F8 | c.474G>T (p.Gln158His) c.*260G>T (n.*260G>T) c.369G>T (p.Gln123His) c.456G>T (p.Gln152His) | |
| X | g.154993063C>G | CA414919638 | F8 | c.474G>C (p.Gln158His) c.*260G>C (n.*260G>C) c.369G>C (p.Gln123His) c.456G>C (p.Gln152His) | |
| X | g.154993063C>T | CA519372752 | F8 | c.474G>A (p.Gln158=) c.*260G>A (n.*260G>A) c.369G>A (p.Gln123=) c.456G>A (p.Gln152=) | |
| X | g.154993063_154993074delinsCTGCCAGACATA | CA2466856540 | F8 | c.463_474delinsTATGTCTGGCAG (p.Tyr155=) c.*249_*260delinsTATGTCTGGCAG (n.*249_*260delinsTATGTCTGGCAG) c.358_369delinsTATGTCTGGCAG (p.Tyr120=) c.445_456delinsTATGTCTGGCAG (p.Tyr149=) | |
| X | g.154993064T>A | CA414919639 | F8 | c.473A>T (p.Gln158Leu) c.*259A>T (n.*259A>T) c.368A>T (p.Gln123Leu) c.455A>T (p.Gln152Leu) | |
| X | g.154993064T>C | CA414919640 | F8 | c.473A>G (p.Gln158Arg) c.*259A>G (n.*259A>G) c.368A>G (p.Gln123Arg) c.455A>G (p.Gln152Arg) | |
| X | g.154993064T>G | CA414919641 | F8 | c.473A>C (p.Gln158Pro) c.*259A>C (n.*259A>C) c.368A>C (p.Gln123Pro) c.455A>C (p.Gln152Pro) | |
| X | g.154993066_154993076del | CA873356067 | F8 | c.463_473del (p.Tyr155GlyfsTer11) c.*249_*259del (n.*249_*259del) c.358_368del (p.Tyr120GlyfsTer11) c.445_455del (p.Tyr149GlyfsTer11) | dbSNP |
| X | g.154993065G>A | CA414919644 | F8 | c.472C>T (p.Gln158Ter) c.*258C>T (n.*258C>T) c.367C>T (p.Gln123Ter) c.454C>T (p.Gln152Ter) | dbSNP |
| X | g.154993065G>C | CA414919643 | F8 | c.472C>G (p.Gln158Glu) c.*258C>G (n.*258C>G) c.367C>G (p.Gln123Glu) c.454C>G (p.Gln152Glu) | |
| X | g.154993065G= | CA2466856541 | F8 | c.472C= (p.Gln158=) c.*258C= (n.*258C=) c.367C= (p.Gln123=) c.454C= (p.Gln152=) | |
| X | g.154993065G>T | CA414919642 | F8 | c.472C>A (p.Gln158Lys) c.*258C>A (n.*258C>A) c.367C>A (p.Gln123Lys) c.454C>A (p.Gln152Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154993066C>A | CA414919645 | F8 | c.471G>T (p.Trp157Cys) c.*257G>T (n.*257G>T) c.366G>T (p.Trp122Cys) c.453G>T (p.Trp151Cys) | |
| X | g.154993066C= | CA2466856542 | F8 | c.471G= (p.Trp157=) c.*257G= (n.*257G=) c.366G= (p.Trp122=) c.453G= (p.Trp151=) | |
| X | g.154993066C>G | CA414919646 | F8 | c.471G>C (p.Trp157Cys) c.*257G>C (n.*257G>C) c.366G>C (p.Trp122Cys) c.453G>C (p.Trp151Cys) | dbSNP |
| X | g.154993066C>T | CA414919647 | F8 | c.471G>A (p.Trp157Ter) c.*257G>A (n.*257G>A) c.366G>A (p.Trp122Ter) c.453G>A (p.Trp151Ter) | |
| X | g.154993067C>A | CA414919648 | F8 | c.470G>T (p.Trp157Leu) c.*256G>T (n.*256G>T) c.365G>T (p.Trp122Leu) c.452G>T (p.Trp151Leu) | |
| X | g.154993067C= | CA2466856543 | F8 | c.470G= (p.Trp157=) c.*256G= (n.*256G=) c.365G= (p.Trp122=) c.452G= (p.Trp151=) | |
| X | g.154993067C>G | CA414919649 | F8 | c.470G>C (p.Trp157Ser) c.*256G>C (n.*256G>C) c.365G>C (p.Trp122Ser) c.452G>C (p.Trp151Ser) | |
| X | g.154993067C>T | CA414919650 | F8 | c.470G>A (p.Trp157Ter) c.*256G>A (n.*256G>A) c.365G>A (p.Trp122Ter) c.452G>A (p.Trp151Ter) | dbSNP |
| X | g.154993068A>C | CA414919651 | F8 | c.469T>G (p.Trp157Gly) c.*255T>G (n.*255T>G) c.364T>G (p.Trp122Gly) c.451T>G (p.Trp151Gly) | |
| X | g.154993068A>G | CA414919652 | F8 | c.469T>C (p.Trp157Arg) c.*255T>C (n.*255T>C) c.364T>C (p.Trp122Arg) c.451T>C (p.Trp151Arg) | |
| X | g.154993068A>T | CA414919653 | F8 | c.469T>A (p.Trp157Arg) c.*255T>A (n.*255T>A) c.364T>A (p.Trp122Arg) c.451T>A (p.Trp151Arg) | |
| X | g.154993069G>A | CA519372798 | F8 | c.468C>T (p.Val156=) c.*254C>T (n.*254C>T) c.363C>T (p.Val121=) c.450C>T (p.Val150=) | |
| X | g.154993069G>C | CA519372800 | F8 | c.468C>G (p.Val156=) c.*254C>G (n.*254C>G) c.363C>G (p.Val121=) c.450C>G (p.Val150=) | |
| X | g.154993069G>T | CA519372803 | F8 | c.468C>A (p.Val156=) c.*254C>A (n.*254C>A) c.363C>A (p.Val121=) c.450C>A (p.Val150=) | |
| X | g.154993069_154993070delinsGA | CA2466856544 | F8 | c.467_468delinsTC (p.Val156=) c.*253_*254delinsTC (n.*253_*254delinsTC) c.362_363delinsTC (p.Val121=) c.449_450delinsTC (p.Val150=) | |
| X | g.154993070del | CA2466856545 | F8 | c.467del (p.Val156AlafsTer5) c.*253del (n.*253del) c.362del (p.Val121AlafsTer5) c.449del (p.Val150AlafsTer5) | dbSNP |
| X | g.154993070A>C | CA414919654 | F8 | c.467T>G (p.Val156Gly) c.*253T>G (n.*253T>G) c.362T>G (p.Val121Gly) c.449T>G (p.Val150Gly) | |
| X | g.154993070A>G | CA414919655 | F8 | c.467T>C (p.Val156Ala) c.*253T>C (n.*253T>C) c.362T>C (p.Val121Ala) c.449T>C (p.Val150Ala) | |
| X | g.154993070A>T | CA414919656 | F8 | c.467T>A (p.Val156Asp) c.*253T>A (n.*253T>A) c.362T>A (p.Val121Asp) c.449T>A (p.Val150Asp) | |
| X | g.154993071C>A | CA414919659 | F8 | c.466G>T (p.Val156Phe) c.*252G>T (n.*252G>T) c.361G>T (p.Val121Phe) c.448G>T (p.Val150Phe) | |
| X | g.154993071C>G | CA414919658 | F8 | c.466G>C (p.Val156Leu) c.*252G>C (n.*252G>C) c.361G>C (p.Val121Leu) c.448G>C (p.Val150Leu) | |
| X | g.154993071C>T | CA414919657 | F8 | c.466G>A (p.Val156Ile) c.*252G>A (n.*252G>A) c.361G>A (p.Val121Ile) c.448G>A (p.Val150Ile) | |
| X | g.154993072A= | CA2466856546 | F8 | c.465T= (p.Tyr155=) c.*251T= (n.*251T=) c.360T= (p.Tyr120=) c.447T= (p.Tyr149=) | |
| X | g.154993072A>C | CA414919660 | F8 | c.465T>G (p.Tyr155Ter) c.*251T>G (n.*251T>G) c.360T>G (p.Tyr120Ter) c.447T>G (p.Tyr149Ter) | |
| X | g.154993072A>G | CA519372810 | F8 | c.465T>C (p.Tyr155=) c.*251T>C (n.*251T>C) c.360T>C (p.Tyr120=) c.447T>C (p.Tyr149=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154993072A>T | CA414919661 | F8 | c.465T>A (p.Tyr155Ter) c.*251T>A (n.*251T>A) c.360T>A (p.Tyr120Ter) c.447T>A (p.Tyr149Ter) | gnomAD v4 |
| X | g.154993074_154993075dup | CA2695238458 | F8 | c.464_465dup (p.Val156MetfsTer6) c.*250_*251dup (n.*250_*251dup) c.359_360dup (p.Val121MetfsTer6) c.446_447dup (p.Val150MetfsTer6) | |
| X | g.154993072_154993078del | CA2695238457 | F8 | c.459_465del (p.His153GlnfsTer6) c.*245_*251del (n.*245_*251del) c.354_360del (p.His118GlnfsTer6) c.441_447del (p.His147GlnfsTer6) | |
| X | g.154993073T>A | CA414919662 | F8 | c.464A>T (p.Tyr155Phe) c.*250A>T (n.*250A>T) c.359A>T (p.Tyr120Phe) c.446A>T (p.Tyr149Phe) | |
| X | g.154993073T>C | CA414919663 | F8 | c.464A>G (p.Tyr155Cys) c.*250A>G (n.*250A>G) c.359A>G (p.Tyr120Cys) c.446A>G (p.Tyr149Cys) | |
| X | g.154993073T>G | CA414919664 | F8 | c.464A>C (p.Tyr155Ser) c.*250A>C (n.*250A>C) c.359A>C (p.Tyr120Ser) c.446A>C (p.Tyr149Ser) | |
| X | g.154993074A= | CA2466856547 | F8 | c.463T= (p.Tyr155=) c.*249T= (n.*249T=) c.358T= (p.Tyr120=) c.445T= (p.Tyr149=) | |
| X | g.154993074A>C | CA414919665 | F8 | c.463T>G (p.Tyr155Asp) c.*249T>G (n.*249T>G) c.358T>G (p.Tyr120Asp) c.445T>G (p.Tyr149Asp) | |
| X | g.154993074A>G | CA414919666 | F8 | c.463T>C (p.Tyr155His) c.*249T>C (n.*249T>C) c.358T>C (p.Tyr120His) c.445T>C (p.Tyr149His) | dbSNP |
| X | g.154993074A>T | CA414919667 | F8 | c.463T>A (p.Tyr155Asn) c.*249T>A (n.*249T>A) c.358T>A (p.Tyr120Asn) c.445T>A (p.Tyr149Asn) | |
| X | g.154993075T>A | CA519372822 | F8 | c.462A>T (p.Thr154=) c.*248A>T (n.*248A>T) c.357A>T (p.Thr119=) c.444A>T (p.Thr148=) | |
| X | g.154993075T>C | CA519372823 | F8 | c.462A>G (p.Thr154=) c.*248A>G (n.*248A>G) c.357A>G (p.Thr119=) c.444A>G (p.Thr148=) | |
| X | g.154993075T>G | CA519372824 | F8 | c.462A>C (p.Thr154=) c.*248A>C (n.*248A>C) c.357A>C (p.Thr119=) c.444A>C (p.Thr148=) | dbSNP |
| X | g.154993075T= | CA2466856548 | F8 | c.462A= (p.Thr154=) c.*248A= (n.*248A=) c.357A= (p.Thr119=) c.444A= (p.Thr148=) | |
| X | g.154993076G>A | CA414919668 | F8 | c.461C>T (p.Thr154Ile) c.*247C>T (n.*247C>T) c.356C>T (p.Thr119Ile) c.443C>T (p.Thr148Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.154993076G>C | CA414919669 | F8 | c.461C>G (p.Thr154Arg) c.*247C>G (n.*247C>G) c.356C>G (p.Thr119Arg) c.443C>G (p.Thr148Arg) | |
| X | g.154993076G= | CA2466856549 | F8 | c.461C= (p.Thr154=) c.*247C= (n.*247C=) c.356C= (p.Thr119=) c.443C= (p.Thr148=) | |
| X | g.154993076G>T | CA414919670 | F8 | c.461C>A (p.Thr154Lys) c.*247C>A (n.*247C>A) c.356C>A (p.Thr119Lys) c.443C>A (p.Thr148Lys) | gnomAD v4 |
| X | g.154993077T>A | CA414919671 | F8 | c.460A>T (p.Thr154Ser) c.*246A>T (n.*246A>T) c.355A>T (p.Thr119Ser) c.442A>T (p.Thr148Ser) | |
| X | g.154993077T>C | CA414919672 | F8 | c.460A>G (p.Thr154Ala) c.*246A>G (n.*246A>G) c.355A>G (p.Thr119Ala) c.442A>G (p.Thr148Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.154993077T>G | CA414919673 | F8 | c.460A>C (p.Thr154Pro) c.*246A>C (n.*246A>C) c.355A>C (p.Thr119Pro) c.442A>C (p.Thr148Pro) | ClinVar dbSNP |
| X | g.154993077T= | CA2466856550 | F8 | c.460A= (p.Thr154=) c.*246A= (n.*246A=) c.355A= (p.Thr119=) c.442A= (p.Thr148=) | |
| X | g.154993078A>C | CA414919674 | F8 | c.459T>G (p.His153Gln) c.*245T>G (n.*245T>G) c.354T>G (p.His118Gln) c.441T>G (p.His147Gln) | |
| X | g.154993078A>G | CA519372838 | F8 | c.459T>C (p.His153=) c.*245T>C (n.*245T>C) c.354T>C (p.His118=) c.441T>C (p.His147=) | |
| X | g.154993078A>T | CA414919675 | F8 | c.459T>A (p.His153Gln) c.*245T>A (n.*245T>A) c.354T>A (p.His118Gln) c.441T>A (p.His147Gln) | |
| X | g.154993079T>A | CA414919676 | F8 | c.458A>T (p.His153Leu) c.*244A>T (n.*244A>T) c.353A>T (p.His118Leu) c.440A>T (p.His147Leu) | |
| X | g.154993079T>C | CA414919677 | F8 | c.458A>G (p.His153Arg) c.*244A>G (n.*244A>G) c.353A>G (p.His118Arg) c.440A>G (p.His147Arg) | gnomAD v4 |
| X | g.154993079T>G | CA414919678 | F8 | c.458A>C (p.His153Pro) c.*244A>C (n.*244A>C) c.353A>C (p.His118Pro) c.440A>C (p.His147Pro) | |
| X | g.154993079_154993080delinsTG | CA2466856551 | F8 | c.457_458delinsCA (p.His153=) c.*243_*244delinsCA (n.*243_*244delinsCA) c.352_353delinsCA (p.His118=) c.439_440delinsCA (p.His147=) | |
| X | g.154993080G>A | CA414919679 | F8 | c.457C>T (p.His153Tyr) c.*243C>T (n.*243C>T) c.352C>T (p.His118Tyr) c.439C>T (p.His147Tyr) | |
| X | g.154993080G>C | CA414919680 | F8 | c.457C>G (p.His153Asp) c.*243C>G (n.*243C>G) c.352C>G (p.His118Asp) c.439C>G (p.His147Asp) | |
| X | g.154993080G>T | CA414919681 | F8 | c.457C>A (p.His153Asn) c.*243C>A (n.*243C>A) c.352C>A (p.His118Asn) c.439C>A (p.His147Asn) | |
| X | g.154993081del | CA873356092 | F8 | c.457del (p.His153IlefsTer8) c.*243del (n.*243del) c.352del (p.His118IlefsTer8) c.439del (p.His147IlefsTer8) | dbSNP |
| X | g.154993081G>A | CA519372850 | F8 | c.456C>T (p.Ser152=) c.*242C>T (n.*242C>T) c.351C>T (p.Ser117=) c.438C>T (p.Ser146=) | |
| X | g.154993081G>C | CA10568583 | F8 | c.456C>G (p.Ser152Arg) c.*242C>G (n.*242C>G) c.351C>G (p.Ser117Arg) c.438C>G (p.Ser146Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993081G= | CA2466856552 | F8 | c.456C= (p.Ser152=) c.*242C= (n.*242C=) c.351C= (p.Ser117=) c.438C= (p.Ser146=) | |
| X | g.154993081G>T | CA414919682 | F8 | c.456C>A (p.Ser152Arg) c.*242C>A (n.*242C>A) c.351C>A (p.Ser117Arg) c.438C>A (p.Ser146Arg) | |
| X | g.154993082C>A | CA414919683 | F8 | c.455G>T (p.Ser152Ile) c.*241G>T (n.*241G>T) c.350G>T (p.Ser117Ile) c.437G>T (p.Ser146Ile) | |
| X | g.154993082C= | CA2466856553 | F8 | c.455G= (p.Ser152=) c.*241G= (n.*241G=) c.350G= (p.Ser117=) c.437G= (p.Ser146=) | |
| X | g.154993082C>G | CA414919684 | F8 | c.455G>C (p.Ser152Thr) c.*241G>C (n.*241G>C) c.350G>C (p.Ser117Thr) c.437G>C (p.Ser146Thr) | |
| X | g.154993082C>T | CA414919685 | F8 | c.455G>A (p.Ser152Asn) c.*241G>A (n.*241G>A) c.350G>A (p.Ser117Asn) c.437G>A (p.Ser146Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993083T>A | CA414919688 | F8 | c.454A>T (p.Ser152Cys) c.*240A>T (n.*240A>T) c.349A>T (p.Ser117Cys) c.436A>T (p.Ser146Cys) | |
| X | g.154993083T>C | CA414919687 | F8 | c.454A>G (p.Ser152Gly) c.*240A>G (n.*240A>G) c.349A>G (p.Ser117Gly) c.436A>G (p.Ser146Gly) | gnomAD v4 |
| X | g.154993083T>G | CA414919686 | F8 | c.454A>C (p.Ser152Arg) c.*240A>C (n.*240A>C) c.349A>C (p.Ser117Arg) c.436A>C (p.Ser146Arg) | |
| X | g.154993084T>A | CA519372862 | F8 | c.453A>T (p.Gly151=) c.*239A>T (n.*239A>T) c.348A>T (p.Gly116=) c.435A>T (p.Gly145=) | |
| X | g.154993084T>C | CA519372866 | F8 | c.453A>G (p.Gly151=) c.*239A>G (n.*239A>G) c.348A>G (p.Gly116=) c.435A>G (p.Gly145=) | |
| X | g.154993084T>G | CA519372864 | F8 | c.453A>C (p.Gly151=) c.*239A>C (n.*239A>C) c.348A>C (p.Gly116=) c.435A>C (p.Gly145=) | |
| X | g.154993085C>A | CA414919691 | F8 | c.452G>T (p.Gly151Val) c.*238G>T (n.*238G>T) c.347G>T (p.Gly116Val) c.434G>T (p.Gly145Val) | |
| X | g.154993085C>G | CA414919689 | F8 | c.452G>C (p.Gly151Ala) c.*238G>C (n.*238G>C) c.347G>C (p.Gly116Ala) c.434G>C (p.Gly145Ala) | |
| X | g.154993085C>T | CA414919690 | F8 | c.452G>A (p.Gly151Glu) c.*238G>A (n.*238G>A) c.347G>A (p.Gly116Glu) c.434G>A (p.Gly145Glu) | |
| X | g.154993086C>A | CA414919692 | F8 | c.451G>T (p.Gly151Ter) c.*237G>T (n.*237G>T) c.346G>T (p.Gly116Ter) c.433G>T (p.Gly145Ter) | |
| X | g.154993086C= | CA2466856554 | F8 | c.451G= (p.Gly151=) c.*237G= (n.*237G=) c.346G= (p.Gly116=) c.433G= (p.Gly145=) | |
| X | g.154993086C>G | CA414919693 | F8 | c.451G>C (p.Gly151Arg) c.*237G>C (n.*237G>C) c.346G>C (p.Gly116Arg) c.433G>C (p.Gly145Arg) | |
| X | g.154993086C>T | CA414919694 | F8 | c.451G>A (p.Gly151Arg) c.*237G>A (n.*237G>A) c.346G>A (p.Gly116Arg) c.433G>A (p.Gly145Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993087A>C | CA519372873 | F8 | c.450T>G (p.Gly150=) c.*236T>G (n.*236T>G) c.345T>G (p.Gly115=) c.432T>G (p.Gly144=) | |
| X | g.154993087A>G | CA519372875 | F8 | c.450T>C (p.Gly150=) c.*236T>C (n.*236T>C) c.345T>C (p.Gly115=) c.432T>C (p.Gly144=) | |
| X | g.154993087A>T | CA519372883 | F8 | c.450T>A (p.Gly150=) c.*236T>A (n.*236T>A) c.345T>A (p.Gly115=) c.432T>A (p.Gly144=) | |
| X | g.154993087dup | CA2695238459 | F8 | c.450dup (p.Gly151TrpfsTer19) c.*236dup (n.*236dup) c.345dup (p.Gly116TrpfsTer19) c.432dup (p.Gly145TrpfsTer19) | |
| X | g.154993088C>A | CA414919695 | F8 | c.449G>T (p.Gly150Val) c.*235G>T (n.*235G>T) c.344G>T (p.Gly115Val) c.431G>T (p.Gly144Val) | |
| X | g.154993088C>G | CA414919696 | F8 | c.449G>C (p.Gly150Ala) c.*235G>C (n.*235G>C) c.344G>C (p.Gly115Ala) c.431G>C (p.Gly144Ala) | |
| X | g.154993088C>T | CA414919697 | F8 | c.449G>A (p.Gly150Asp) c.*235G>A (n.*235G>A) c.344G>A (p.Gly115Asp) c.431G>A (p.Gly144Asp) | |
| X | g.154993089C>A | CA414919698 | F8 | c.448G>T (p.Gly150Cys) c.*234G>T (n.*234G>T) c.343G>T (p.Gly115Cys) c.430G>T (p.Gly144Cys) | dbSNP |
| X | g.154993089C= | CA2466856555 | F8 | c.448G= (p.Gly150=) c.*234G= (n.*234G=) c.343G= (p.Gly115=) c.430G= (p.Gly144=) | |
| X | g.154993089C>G | CA414919699 | F8 | c.448G>C (p.Gly150Arg) c.*234G>C (n.*234G>C) c.343G>C (p.Gly115Arg) c.430G>C (p.Gly144Arg) | |
| X | g.154993089C>T | CA414919700 | F8 | c.448G>A (p.Gly150Ser) c.*234G>A (n.*234G>A) c.343G>A (p.Gly115Ser) c.430G>A (p.Gly144Ser) | |
| X | g.154993090_154993098dup | CA2695238460 | F8 | c.440_448dup (p.Pro149_Gly150insValPhePro) c.*226_*234dup (n.*226_*234dup) c.335_343dup (p.Pro114_Gly115insValPhePro) c.422_430dup (p.Pro143_Gly144insValPhePro) | |
| X | g.154993090A= | CA2466856556 | F8 | c.447T= (p.Pro149=) c.*233T= (n.*233T=) c.342T= (p.Pro114=) c.429T= (p.Pro143=) | |
| X | g.154993090A>C | CA519372903 | F8 | c.447T>G (p.Pro149=) c.*233T>G (n.*233T>G) c.342T>G (p.Pro114=) c.429T>G (p.Pro143=) | |
| X | g.154993090A>G | CA10568584 | F8 | c.447T>C (p.Pro149=) c.*233T>C (n.*233T>C) c.342T>C (p.Pro114=) c.429T>C (p.Pro143=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993090A>T | CA519372906 | F8 | c.447T>A (p.Pro149=) c.*233T>A (n.*233T>A) c.342T>A (p.Pro114=) c.429T>A (p.Pro143=) | |
| X | g.154993091G>A | CA414919703 | F8 | c.446C>T (p.Pro149Leu) c.*232C>T (n.*232C>T) c.341C>T (p.Pro114Leu) c.428C>T (p.Pro143Leu) | dbSNP |
| X | g.154993091G>C | CA414919701 | F8 | c.446C>G (p.Pro149Arg) c.*232C>G (n.*232C>G) c.341C>G (p.Pro114Arg) c.428C>G (p.Pro143Arg) | |
| X | g.154993091G= | CA2466856557 | F8 | c.446C= (p.Pro149=) c.*232C= (n.*232C=) c.341C= (p.Pro114=) c.428C= (p.Pro143=) | |
| X | g.154993091G>T | CA414919702 | F8 | c.446C>A (p.Pro149His) c.*232C>A (n.*232C>A) c.341C>A (p.Pro114His) c.428C>A (p.Pro143His) | |
| X | g.154993093del | CA2695238461 | F8 | c.446del (p.Pro149LeufsTer12) c.*232del (n.*232del) c.341del (p.Pro114LeufsTer12) c.428del (p.Pro143LeufsTer12) | |
| X | g.154993092G>A | CA414919704 | F8 | c.445C>T (p.Pro149Ser) c.*231C>T (n.*231C>T) c.340C>T (p.Pro114Ser) c.427C>T (p.Pro143Ser) | |
| X | g.154993092G>C | CA414919705 | F8 | c.445C>G (p.Pro149Ala) c.*231C>G (n.*231C>G) c.340C>G (p.Pro114Ala) c.427C>G (p.Pro143Ala) | gnomAD v4 |
| X | g.154993092G>T | CA414919706 | F8 | c.445C>A (p.Pro149Thr) c.*231C>A (n.*231C>A) c.340C>A (p.Pro114Thr) c.427C>A (p.Pro143Thr) | |
| X | g.154993093G>A | CA10568585 | F8 | c.444C>T (p.Phe148=) c.*230C>T (n.*230C>T) c.339C>T (p.Phe113=) c.426C>T (p.Phe142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993093G>C | CA414919707 | F8 | c.444C>G (p.Phe148Leu) c.*230C>G (n.*230C>G) c.339C>G (p.Phe113Leu) c.426C>G (p.Phe142Leu) | |
| X | g.154993093G= | CA2466856558 | F8 | c.444C= (p.Phe148=) c.*230C= (n.*230C=) c.339C= (p.Phe113=) c.426C= (p.Phe142=) | |
| X | g.154993093G>T | CA414919708 | F8 | c.444C>A (p.Phe148Leu) c.*230C>A (n.*230C>A) c.339C>A (p.Phe113Leu) c.426C>A (p.Phe142Leu) | |
| X | g.154993094A>C | CA414919709 | F8 | c.443T>G (p.Phe148Cys) c.*229T>G (n.*229T>G) c.338T>G (p.Phe113Cys) c.425T>G (p.Phe142Cys) | |
| X | g.154993094A>G | CA414919710 | F8 | c.443T>C (p.Phe148Ser) c.*229T>C (n.*229T>C) c.338T>C (p.Phe113Ser) c.425T>C (p.Phe142Ser) | |
| X | g.154993094A>T | CA414919711 | F8 | c.443T>A (p.Phe148Tyr) c.*229T>A (n.*229T>A) c.338T>A (p.Phe113Tyr) c.425T>A (p.Phe142Tyr) | |
| X | g.154993095A>C | CA414919712 | F8 | c.442T>G (p.Phe148Val) c.*228T>G (n.*228T>G) c.337T>G (p.Phe113Val) c.424T>G (p.Phe142Val) | |
| X | g.154993095A>G | CA414919713 | F8 | c.442T>C (p.Phe148Leu) c.*228T>C (n.*228T>C) c.337T>C (p.Phe113Leu) c.424T>C (p.Phe142Leu) | |
| X | g.154993095A>T | CA414919714 | F8 | c.442T>A (p.Phe148Ile) c.*228T>A (n.*228T>A) c.337T>A (p.Phe113Ile) c.424T>A (p.Phe142Ile) | |
| X | g.154993096G>A | CA519372944 | F8 | c.441C>T (p.Val147=) c.*227C>T (n.*227C>T) c.336C>T (p.Val112=) c.423C>T (p.Val141=) | |
| X | g.154993096G>C | CA519372949 | F8 | c.441C>G (p.Val147=) c.*227C>G (n.*227C>G) c.336C>G (p.Val112=) c.423C>G (p.Val141=) | |
| X | g.154993096G>T | CA519372950 | F8 | c.441C>A (p.Val147=) c.*227C>A (n.*227C>A) c.336C>A (p.Val112=) c.423C>A (p.Val141=) | |
| X | g.154993097A>C | CA414919717 | F8 | c.440T>G (p.Val147Gly) c.*226T>G (n.*226T>G) c.335T>G (p.Val112Gly) c.422T>G (p.Val141Gly) | |
| X | g.154993097A>G | CA414919716 | F8 | c.440T>C (p.Val147Ala) c.*226T>C (n.*226T>C) c.335T>C (p.Val112Ala) c.422T>C (p.Val141Ala) | |
| X | g.154993097A>T | CA414919715 | F8 | c.440T>A (p.Val147Asp) c.*226T>A (n.*226T>A) c.335T>A (p.Val112Asp) c.422T>A (p.Val141Asp) | |
| X | g.154993098C>A | CA414919718 | F8 | c.439G>T (p.Val147Phe) c.*225G>T (n.*225G>T) c.334G>T (p.Val112Phe) c.421G>T (p.Val141Phe) | |
| X | g.154993098C= | CA2466856559 | F8 | c.439G= (p.Val147=) c.*225G= (n.*225G=) c.334G= (p.Val112=) c.421G= (p.Val141=) | |
| X | g.154993098C>G | CA414919719 | F8 | c.439G>C (p.Val147Leu) c.*225G>C (n.*225G>C) c.334G>C (p.Val112Leu) c.421G>C (p.Val141Leu) | |
| X | g.154993098C>T | CA10568586 | F8 | c.439G>A (p.Val147Ile) c.*225G>A (n.*225G>A) c.334G>A (p.Val112Ile) c.421G>A (p.Val141Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993099T>A | CA414919720 | F8 | c.438A>T (p.Lys146Asn) c.*224A>T (n.*224A>T) c.333A>T (p.Lys111Asn) c.420A>T (p.Lys140Asn) | |
| X | g.154993099T>C | CA519372960 | F8 | c.438A>G (p.Lys146=) c.*224A>G (n.*224A>G) c.333A>G (p.Lys111=) c.420A>G (p.Lys140=) | |
| X | g.154993099T>G | CA414919721 | F8 | c.438A>C (p.Lys146Asn) c.*224A>C (n.*224A>C) c.333A>C (p.Lys111Asn) c.420A>C (p.Lys140Asn) | |
| X | g.154993101del | CA2695238462 | F8 | c.438del (p.Val147SerfsTer14) c.*224del (n.*224del) c.333del (p.Val112SerfsTer14) c.420del (p.Val141SerfsTer14) | |
| X | g.154993100_154993101del | CA2573055196 | F8 | c.437_438del (p.Lys146SerfsTer23) c.*223_*224del (n.*223_*224del) c.332_333del (p.Lys111SerfsTer23) c.419_420del (p.Lys140SerfsTer23) | ClinVar dbSNP |
| X | g.154993100T>A | CA414919722 | F8 | c.437A>T (p.Lys146Ile) c.*223A>T (n.*223A>T) c.332A>T (p.Lys111Ile) c.419A>T (p.Lys140Ile) | |
| X | g.154993100T>C | CA414919723 | F8 | c.437A>G (p.Lys146Arg) c.*223A>G (n.*223A>G) c.332A>G (p.Lys111Arg) c.419A>G (p.Lys140Arg) | |
| X | g.154993100T>G | CA414919724 | F8 | c.437A>C (p.Lys146Thr) c.*223A>C (n.*223A>C) c.332A>C (p.Lys111Thr) c.419A>C (p.Lys140Thr) | |
| X | g.154993101T>A | CA414919725 | F8 | c.436A>T (p.Lys146Ter) c.*222A>T (n.*222A>T) c.331A>T (p.Lys111Ter) c.418A>T (p.Lys140Ter) | |
| X | g.154993101T>C | CA414919726 | F8 | c.436A>G (p.Lys146Glu) c.*222A>G (n.*222A>G) c.331A>G (p.Lys111Glu) c.418A>G (p.Lys140Glu) | |
| X | g.154993101T>G | CA414919727 | F8 | c.436A>C (p.Lys146Gln) c.*222A>C (n.*222A>C) c.331A>C (p.Lys111Gln) c.418A>C (p.Lys140Gln) | |
| X | g.154993102A>C | CA414919728 | F8 | c.435T>G (p.Asp145Glu) c.*221T>G (n.*221T>G) c.330T>G (p.Asp110Glu) c.417T>G (p.Asp139Glu) | |
| X | g.154993102A>G | CA519372985 | F8 | c.435T>C (p.Asp145=) c.*221T>C (n.*221T>C) c.330T>C (p.Asp110=) c.417T>C (p.Asp139=) | COSMIC COSMIC |
| X | g.154993102A>T | CA414919729 | F8 | c.435T>A (p.Asp145Glu) c.*221T>A (n.*221T>A) c.330T>A (p.Asp110Glu) c.417T>A (p.Asp139Glu) | |
| X | g.154993102_154993103insAAA | CA2695238463 | F8 | c.435_436insTTT (p.Asp145_Lys146insPhe) c.*221_*222insTTT (n.*221_*222insTTT) c.330_331insTTT (p.Asp110_Lys111insPhe) c.417_418insTTT (p.Asp139_Lys140insPhe) | |
| X | g.154993103T>A | CA414919732 | F8 | c.434A>T (p.Asp145Val) c.*220A>T (n.*220A>T) c.329A>T (p.Asp110Val) c.416A>T (p.Asp139Val) | |
| X | g.154993103T>C | CA414919731 | F8 | c.434A>G (p.Asp145Gly) c.*220A>G (n.*220A>G) c.329A>G (p.Asp110Gly) c.416A>G (p.Asp139Gly) | |
| X | g.154993103T>G | CA414919730 | F8 | c.434A>C (p.Asp145Ala) c.*220A>C (n.*220A>C) c.329A>C (p.Asp110Ala) c.416A>C (p.Asp139Ala) | |
| X | g.154993104C>A | CA414919733 | F8 | c.433G>T (p.Asp145Tyr) c.*219G>T (n.*219G>T) c.328G>T (p.Asp110Tyr) c.415G>T (p.Asp139Tyr) | |
| X | g.154993104C= | CA2466856560 | F8 | c.433G= (p.Asp145=) c.*219G= (n.*219G=) c.328G= (p.Asp110=) c.415G= (p.Asp139=) | |
| X | g.154993104C>G | CA414919734 | F8 | c.433G>C (p.Asp145His) c.*219G>C (n.*219G>C) c.328G>C (p.Asp110His) c.415G>C (p.Asp139His) | dbSNP |
| X | g.154993104C>T | CA414919735 | F8 | c.433G>A (p.Asp145Asn) c.*219G>A (n.*219G>A) c.328G>A (p.Asp110Asn) c.415G>A (p.Asp139Asn) | |
| X | g.154993105A>C | CA414919736 | F8 | c.432T>G (p.Asp144Glu) c.*218T>G (n.*218T>G) c.327T>G (p.Asp109Glu) c.414T>G (p.Asp138Glu) | |
| X | g.154993105A>G | CA519373340 | F8 | c.432T>C (p.Asp144=) c.*218T>C (n.*218T>C) c.327T>C (p.Asp109=) c.414T>C (p.Asp138=) | gnomAD v4 |
| X | g.154993105A>T | CA414919737 | F8 | c.432T>A (p.Asp144Glu) c.*218T>A (n.*218T>A) c.327T>A (p.Asp109Glu) c.414T>A (p.Asp138Glu) | |
| X | g.154993105_154993108delinsATCT | CA2466856561 | F8 | c.429_432delinsAGAT (p.Glu143=) c.*215_*218delinsAGAT (n.*215_*218delinsAGAT) c.324_327delinsAGAT (p.Glu108=) c.411_414delinsAGAT (p.Glu137=) | |
| X | g.154993106T>A | CA414919738 | F8 | c.431A>T (p.Asp144Val) c.*217A>T (n.*217A>T) c.326A>T (p.Asp109Val) c.413A>T (p.Asp138Val) | |
| X | g.154993106T>C | CA414919739 | F8 | c.431A>G (p.Asp144Gly) c.*217A>G (n.*217A>G) c.326A>G (p.Asp109Gly) c.413A>G (p.Asp138Gly) | |
| X | g.154993106T>G | CA414919740 | F8 | c.431A>C (p.Asp144Ala) c.*217A>C (n.*217A>C) c.326A>C (p.Asp109Ala) c.413A>C (p.Asp138Ala) | |
| X | g.154993110_154993112del | CA645246737 | F8 | c.429_431del (p.Glu143del) c.*215_*217del (n.*215_*217del) c.324_326del (p.Glu108del) c.411_413del (p.Glu137del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993107C>A | CA414919741 | F8 | c.430G>T (p.Asp144Tyr) c.*216G>T (n.*216G>T) c.325G>T (p.Asp109Tyr) c.412G>T (p.Asp138Tyr) | |
| X | g.154993107C>G | CA414919742 | F8 | c.430G>C (p.Asp144His) c.*216G>C (n.*216G>C) c.325G>C (p.Asp109His) c.412G>C (p.Asp138His) | |
| X | g.154993107C>T | CA414919743 | F8 | c.430G>A (p.Asp144Asn) c.*216G>A (n.*216G>A) c.325G>A (p.Asp109Asn) c.412G>A (p.Asp138Asn) | |
| X | g.154993108T>A | CA414919745 | F8 | c.429A>T (p.Glu143Asp) c.*215A>T (n.*215A>T) c.324A>T (p.Glu108Asp) c.411A>T (p.Glu137Asp) | dbSNP gnomAD v4 |
| X | g.154993108T>C | CA519373356 | F8 | c.429A>G (p.Glu143=) c.*215A>G (n.*215A>G) c.324A>G (p.Glu108=) c.411A>G (p.Glu137=) | |
| X | g.154993108T>G | CA414919744 | F8 | c.429A>C (p.Glu143Asp) c.*215A>C (n.*215A>C) c.324A>C (p.Glu108Asp) c.411A>C (p.Glu137Asp) | |
| X | g.154993108T= | CA2466856562 | F8 | c.429A= (p.Glu143=) c.*215A= (n.*215A=) c.324A= (p.Glu108=) c.411A= (p.Glu137=) | |
| X | g.154993109T>A | CA414919746 | F8 | c.428A>T (p.Glu143Val) c.*214A>T (n.*214A>T) c.323A>T (p.Glu108Val) c.410A>T (p.Glu137Val) | |
| X | g.154993109T>C | CA414919747 | F8 | c.428A>G (p.Glu143Gly) c.*214A>G (n.*214A>G) c.323A>G (p.Glu108Gly) c.410A>G (p.Glu137Gly) | |
| X | g.154993109T>G | CA414919748 | F8 | c.428A>C (p.Glu143Ala) c.*214A>C (n.*214A>C) c.323A>C (p.Glu108Ala) c.410A>C (p.Glu137Ala) | |
| X | g.154993110_154993111del | CA2695238464 | F8 | c.427_428del (p.Glu143ArgfsTer2) c.*213_*214del (n.*213_*214del) c.322_323del (p.Glu108ArgfsTer2) c.409_410del (p.Glu137ArgfsTer2) | |
| X | g.154993110C>A | CA414919749 | F8 | c.427G>T (p.Glu143Ter) c.*213G>T (n.*213G>T) c.322G>T (p.Glu108Ter) c.409G>T (p.Glu137Ter) | |
| X | g.154993110C>G | CA414919750 | F8 | c.427G>C (p.Glu143Gln) c.*213G>C (n.*213G>C) c.322G>C (p.Glu108Gln) c.409G>C (p.Glu137Gln) | |
| X | g.154993110C>T | CA414919751 | F8 | c.427G>A (p.Glu143Lys) c.*213G>A (n.*213G>A) c.322G>A (p.Glu108Lys) c.409G>A (p.Glu137Lys) | |
| X | g.154993111T>A | CA414919752 | F8 | c.426A>T (p.Lys142Asn) c.*212A>T (n.*212A>T) c.321A>T (p.Lys107Asn) c.408A>T (p.Lys136Asn) | COSMIC COSMIC |
| X | g.154993111T>C | CA519373371 | F8 | c.426A>G (p.Lys142=) c.*212A>G (n.*212A>G) c.321A>G (p.Lys107=) c.408A>G (p.Lys136=) | gnomAD v4 |
| X | g.154993111T>G | CA414919753 | F8 | c.426A>C (p.Lys142Asn) c.*212A>C (n.*212A>C) c.321A>C (p.Lys107Asn) c.408A>C (p.Lys136Asn) | |
| X | g.154993113dup | CA2695238465 | F8 | c.426dup (p.Glu143ArgfsTer3) c.*212dup (n.*212dup) c.321dup (p.Glu108ArgfsTer3) c.408dup (p.Glu137ArgfsTer3) | |
| X | g.154993112T>A | CA414919754 | F8 | c.425A>T (p.Lys142Ile) c.*211A>T (n.*211A>T) c.320A>T (p.Lys107Ile) c.407A>T (p.Lys136Ile) | |
| X | g.154993112T>C | CA414919755 | F8 | c.425A>G (p.Lys142Arg) c.*211A>G (n.*211A>G) c.320A>G (p.Lys107Arg) c.407A>G (p.Lys136Arg) | |
| X | g.154993112T>G | CA414919756 | F8 | c.425A>C (p.Lys142Thr) c.*211A>C (n.*211A>C) c.320A>C (p.Lys107Thr) c.407A>C (p.Lys136Thr) | |
| X | g.154993113T>A | CA414919757 | F8 | c.424A>T (p.Lys142Ter) c.*210A>T (n.*210A>T) c.319A>T (p.Lys107Ter) c.406A>T (p.Lys136Ter) | |
| X | g.154993113T>C | CA414919758 | F8 | c.424A>G (p.Lys142Glu) c.*210A>G (n.*210A>G) c.319A>G (p.Lys107Glu) c.406A>G (p.Lys136Glu) | |
| X | g.154993113T>G | CA414919759 | F8 | c.424A>C (p.Lys142Gln) c.*210A>C (n.*210A>C) c.319A>C (p.Lys107Gln) c.406A>C (p.Lys136Gln) | |
| X | g.154993114C>A | CA414919760 | F8 | c.423G>T (p.Glu141Asp) c.*209G>T (n.*209G>T) c.318G>T (p.Glu106Asp) c.405G>T (p.Glu135Asp) | |
| X | g.154993114C>G | CA414919761 | F8 | c.423G>C (p.Glu141Asp) c.*209G>C (n.*209G>C) c.318G>C (p.Glu106Asp) c.405G>C (p.Glu135Asp) | |
| X | g.154993114C>T | CA519373388 | F8 | c.423G>A (p.Glu141=) c.*209G>A (n.*209G>A) c.318G>A (p.Glu106=) c.405G>A (p.Glu135=) | |
| X | g.154993115T>A | CA414919762 | F8 | c.422A>T (p.Glu141Val) c.*208A>T (n.*208A>T) c.317A>T (p.Glu106Val) c.404A>T (p.Glu135Val) | |
| X | g.154993115T>C | CA414919763 | F8 | c.422A>G (p.Glu141Gly) c.*208A>G (n.*208A>G) c.317A>G (p.Glu106Gly) c.404A>G (p.Glu135Gly) | |
| X | g.154993115T>G | CA414919764 | F8 | c.422A>C (p.Glu141Ala) c.*208A>C (n.*208A>C) c.317A>C (p.Glu106Ala) c.404A>C (p.Glu135Ala) | |
| X | g.154993116C>A | CA414919765 | F8 | c.421G>T (p.Glu141Ter) c.*207G>T (n.*207G>T) c.316G>T (p.Glu106Ter) c.403G>T (p.Glu135Ter) | dbSNP |
| X | g.154993116C= | CA2466856563 | F8 | c.421G= (p.Glu141=) c.*207G= (n.*207G=) c.316G= (p.Glu106=) c.403G= (p.Glu135=) | |
| X | g.154993116C>G | CA414919766 | F8 | c.421G>C (p.Glu141Gln) c.*207G>C (n.*207G>C) c.316G>C (p.Glu106Gln) c.403G>C (p.Glu135Gln) | |
| X | g.154993116C>T | CA414919767 | F8 | c.421G>A (p.Glu141Lys) c.*207G>A (n.*207G>A) c.316G>A (p.Glu106Lys) c.403G>A (p.Glu135Lys) | dbSNP |
| X | g.154993118del | CA2695238466 | F8 | c.421del (p.Glu141ArgfsTer20) c.*207del (n.*207del) c.316del (p.Glu106ArgfsTer20) c.403del (p.Glu135ArgfsTer20) | |
| X | g.154993117C>A | CA414919768 | F8 | c.420G>T (p.Arg140Ser) c.*206G>T (n.*206G>T) c.315G>T (p.Arg105Ser) c.402G>T (p.Arg134Ser) | |
| X | g.154993117C= | CA2466856564 | F8 | c.420G= (p.Arg140=) c.*206G= (n.*206G=) c.315G= (p.Arg105=) c.402G= (p.Arg134=) | |
| X | g.154993117C>G | CA414919769 | F8 | c.420G>C (p.Arg140Ser) c.*206G>C (n.*206G>C) c.315G>C (p.Arg105Ser) c.402G>C (p.Arg134Ser) | |
| X | g.154993117C>T | CA519373417 | F8 | c.420G>A (p.Arg140=) c.*206G>A (n.*206G>A) c.315G>A (p.Arg105=) c.402G>A (p.Arg134=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154993118C>A | CA414919770 | F8 | c.419G>T (p.Arg140Met) c.*205G>T (n.*205G>T) c.314G>T (p.Arg105Met) c.401G>T (p.Arg134Met) | COSMIC COSMIC |
| X | g.154993118C>G | CA414919771 | F8 | c.419G>C (p.Arg140Thr) c.*205G>C (n.*205G>C) c.314G>C (p.Arg105Thr) c.401G>C (p.Arg134Thr) | gnomAD v4 |
| X | g.154993118C>T | CA414919772 | F8 | c.419G>A (p.Arg140Lys) c.*205G>A (n.*205G>A) c.314G>A (p.Arg105Lys) c.401G>A (p.Arg134Lys) | |
| X | g.154993119T>A | CA414919773 | F8 | c.418A>T (p.Arg140Trp) c.*204A>T (n.*204A>T) c.313A>T (p.Arg105Trp) c.400A>T (p.Arg134Trp) | |
| X | g.154993119T>C | CA414919774 | F8 | c.418A>G (p.Arg140Gly) c.*204A>G (n.*204A>G) c.313A>G (p.Arg105Gly) c.400A>G (p.Arg134Gly) | |
| X | g.154993119T>G | CA10568587 | F8 | c.418A>C (p.Arg140=) c.*204A>C (n.*204A>C) c.313A>C (p.Arg105=) c.400A>C (p.Arg134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993119T= | CA2466856565 | F8 | c.418A= (p.Arg140=) c.*204A= (n.*204A=) c.313A= (p.Arg105=) c.400A= (p.Arg134=) | |
| X | g.154993120T>A | CA414919775 | F8 | c.417A>T (p.Gln139His) c.*203A>T (n.*203A>T) c.312A>T (p.Gln104His) c.399A>T (p.Gln133His) | |
| X | g.154993120T>C | CA519373431 | F8 | c.417A>G (p.Gln139=) c.*203A>G (n.*203A>G) c.312A>G (p.Gln104=) c.399A>G (p.Gln133=) | |
| X | g.154993120T>G | CA414919776 | F8 | c.417A>C (p.Gln139His) c.*203A>C (n.*203A>C) c.312A>C (p.Gln104His) c.399A>C (p.Gln133His) | |
| X | g.154993121T>A | CA414919777 | F8 | c.416A>T (p.Gln139Leu) c.*202A>T (n.*202A>T) c.311A>T (p.Gln104Leu) c.398A>T (p.Gln133Leu) | |
| X | g.154993121T>C | CA414919778 | F8 | c.416A>G (p.Gln139Arg) c.*202A>G (n.*202A>G) c.311A>G (p.Gln104Arg) c.398A>G (p.Gln133Arg) | |
| X | g.154993121T>G | CA414919779 | F8 | c.416A>C (p.Gln139Pro) c.*202A>C (n.*202A>C) c.311A>C (p.Gln104Pro) c.398A>C (p.Gln133Pro) | |
| X | g.154993122G>A | CA414919780 | F8 | c.415C>T (p.Gln139Ter) c.*201C>T (n.*201C>T) c.310C>T (p.Gln104Ter) c.397C>T (p.Gln133Ter) | dbSNP |
| X | g.154993122G>C | CA414919781 | F8 | c.415C>G (p.Gln139Glu) c.*201C>G (n.*201C>G) c.310C>G (p.Gln104Glu) c.397C>G (p.Gln133Glu) | |
| X | g.154993122G= | CA2466856566 | F8 | c.415C= (p.Gln139=) c.*201C= (n.*201C=) c.310C= (p.Gln104=) c.397C= (p.Gln133=) | |
| X | g.154993122G>T | CA414919782 | F8 | c.415C>A (p.Gln139Lys) c.*201C>A (n.*201C>A) c.310C>A (p.Gln104Lys) c.397C>A (p.Gln133Lys) | |
| X | g.154993122dup | CA2695238467 | F8 | c.415dup (p.Gln139ProfsTer7) c.*201dup (n.*201dup) c.310dup (p.Gln104ProfsTer7) c.397dup (p.Gln133ProfsTer7) | |
| X | g.154993123A>C | CA414919783 | F8 | c.414T>G (p.Ser138Arg) c.*200T>G (n.*200T>G) c.309T>G (p.Ser103Arg) c.396T>G (p.Ser132Arg) | |
| X | g.154993123A>G | CA519373444 | F8 | c.414T>C (p.Ser138=) c.*200T>C (n.*200T>C) c.309T>C (p.Ser103=) c.396T>C (p.Ser132=) | |
| X | g.154993123A>T | CA414919784 | F8 | c.414T>A (p.Ser138Arg) c.*200T>A (n.*200T>A) c.309T>A (p.Ser103Arg) c.396T>A (p.Ser132Arg) | |
| X | g.154993124C>A | CA414919785 | F8 | c.413G>T (p.Ser138Ile) c.*199G>T (n.*199G>T) c.308G>T (p.Ser103Ile) c.395G>T (p.Ser132Ile) | |
| X | g.154993124C>G | CA414919786 | F8 | c.413G>C (p.Ser138Thr) c.*199G>C (n.*199G>C) c.308G>C (p.Ser103Thr) c.395G>C (p.Ser132Thr) | |
| X | g.154993124C>T | CA414919787 | F8 | c.413G>A (p.Ser138Asn) c.*199G>A (n.*199G>A) c.308G>A (p.Ser103Asn) c.395G>A (p.Ser132Asn) | |
| X | g.154993124_154993125delinsCT | CA2466856567 | F8 | c.412_413delinsAG (p.Ser138=) c.*198_*199delinsAG (n.*198_*199delinsAG) c.307_308delinsAG (p.Ser103=) c.394_395delinsAG (p.Ser132=) | |
| X | g.154993125del | CA2466856568 | F8 | c.412del (p.Ser138ValfsTer23) c.*198del (n.*198del) c.307del (p.Ser103ValfsTer23) c.394del (p.Ser132ValfsTer23) | ClinVar dbSNP |
| X | g.154993125T>A | CA414919790 | F8 | c.412A>T (p.Ser138Cys) c.*198A>T (n.*198A>T) c.307A>T (p.Ser103Cys) c.394A>T (p.Ser132Cys) | |
| X | g.154993125T>C | CA414919788 | F8 | c.412A>G (p.Ser138Gly) c.*198A>G (n.*198A>G) c.307A>G (p.Ser103Gly) c.394A>G (p.Ser132Gly) | |
| X | g.154993125T>G | CA414919789 | F8 | c.412A>C (p.Ser138Arg) c.*198A>C (n.*198A>C) c.307A>C (p.Ser103Arg) c.394A>C (p.Ser132Arg) | gnomAD v4 |
| X | g.154993125_154993126del | CA2695238468 | F8 | c.411_412del (p.Gln139LysfsTer6) c.*197_*198del (n.*197_*198del) c.306_307del (p.Gln104LysfsTer6) c.393_394del (p.Gln133LysfsTer6) | |
| X | g.154993126G>A | CA519373457 | F8 | c.411C>T (p.Thr137=) c.*197C>T (n.*197C>T) c.306C>T (p.Thr102=) c.393C>T (p.Thr131=) | |
| X | g.154993126G>C | CA519373460 | F8 | c.411C>G (p.Thr137=) c.*197C>G (n.*197C>G) c.306C>G (p.Thr102=) c.393C>G (p.Thr131=) | |
| X | g.154993126G>T | CA519373459 | F8 | c.411C>A (p.Thr137=) c.*197C>A (n.*197C>A) c.306C>A (p.Thr102=) c.393C>A (p.Thr131=) | |
| X | g.154993127G>A | CA255063 | F8 | c.410C>T (p.Thr137Ile) c.*196C>T (n.*196C>T) c.305C>T (p.Thr102Ile) c.392C>T (p.Thr131Ile) | ClinVar dbSNP |
| X | g.154993127G>C | CA414919791 | F8 | c.410C>G (p.Thr137Ser) c.*196C>G (n.*196C>G) c.305C>G (p.Thr102Ser) c.392C>G (p.Thr131Ser) | |
| X | g.154993127G= | CA2466856569 | F8 | c.410C= (p.Thr137=) c.*196C= (n.*196C=) c.305C= (p.Thr102=) c.392C= (p.Thr131=) | |
| X | g.154993127G>T | CA414919792 | F8 | c.410C>A (p.Thr137Asn) c.*196C>A (n.*196C>A) c.305C>A (p.Thr102Asn) c.392C>A (p.Thr131Asn) | |
| X | g.154993128T>A | CA414919793 | F8 | c.409A>T (p.Thr137Ser) c.*195A>T (n.*195A>T) c.304A>T (p.Thr102Ser) c.391A>T (p.Thr131Ser) | |
| X | g.154993128T>C | CA414919794 | F8 | c.409A>G (p.Thr137Ala) c.*195A>G (n.*195A>G) c.304A>G (p.Thr102Ala) c.391A>G (p.Thr131Ala) | gnomAD v4 |
| X | g.154993128T>G | CA414919795 | F8 | c.409A>C (p.Thr137Pro) c.*195A>C (n.*195A>C) c.304A>C (p.Thr102Pro) c.391A>C (p.Thr131Pro) | |
| X | g.154993129C>A | CA414919796 | F8 | c.408G>T (p.Gln136His) c.*194G>T (n.*194G>T) c.303G>T (p.Gln101His) c.390G>T (p.Gln130His) | gnomAD v4 |
| X | g.154993129C>G | CA414919797 | F8 | c.408G>C (p.Gln136His) c.*194G>C (n.*194G>C) c.303G>C (p.Gln101His) c.390G>C (p.Gln130His) | |
| X | g.154993129C>T | CA519373468 | F8 | c.408G>A (p.Gln136=) c.*194G>A (n.*194G>A) c.303G>A (p.Gln101=) c.390G>A (p.Gln130=) | |
| X | g.154993130T>A | CA414919798 | F8 | c.407A>T (p.Gln136Leu) c.*193A>T (n.*193A>T) c.302A>T (p.Gln101Leu) c.389A>T (p.Gln130Leu) | |
| X | g.154993130T>C | CA414919799 | F8 | c.407A>G (p.Gln136Arg) c.*193A>G (n.*193A>G) c.302A>G (p.Gln101Arg) c.389A>G (p.Gln130Arg) | |
| X | g.154993130T>G | CA414919800 | F8 | c.407A>C (p.Gln136Pro) c.*193A>C (n.*193A>C) c.302A>C (p.Gln101Pro) c.389A>C (p.Gln130Pro) | |
| X | g.154993131G>A | CA414919803 | F8 | c.406C>T (p.Gln136Ter) c.*192C>T (n.*192C>T) c.301C>T (p.Gln101Ter) c.388C>T (p.Gln130Ter) | COSMIC COSMIC |
| X | g.154993131G>C | CA414919802 | F8 | c.406C>G (p.Gln136Glu) c.*192C>G (n.*192C>G) c.301C>G (p.Gln101Glu) c.388C>G (p.Gln130Glu) | |
| X | g.154993131G>T | CA414919801 | F8 | c.406C>A (p.Gln136Lys) c.*192C>A (n.*192C>A) c.301C>A (p.Gln101Lys) c.388C>A (p.Gln130Lys) | |
| X | g.154993132A>C | CA414919805 | F8 | c.405T>G (p.Asp135Glu) c.*191T>G (n.*191T>G) c.300T>G (p.Asp100Glu) c.387T>G (p.Asp129Glu) | |
| X | g.154993132A>G | CA519373476 | F8 | c.405T>C (p.Asp135=) c.*191T>C (n.*191T>C) c.300T>C (p.Asp100=) c.387T>C (p.Asp129=) | |
| X | g.154993132A>T | CA414919804 | F8 | c.405T>A (p.Asp135Glu) c.*191T>A (n.*191T>A) c.300T>A (p.Asp100Glu) c.387T>A (p.Asp129Glu) | |
| X | g.154993133T>A | CA414919806 | F8 | c.404A>T (p.Asp135Val) c.*190A>T (n.*190A>T) c.299A>T (p.Asp100Val) c.386A>T (p.Asp129Val) | |
| X | g.154993133T>C | CA255062 | F8 | c.404A>G (p.Asp135Gly) c.*190A>G (n.*190A>G) c.299A>G (p.Asp100Gly) c.386A>G (p.Asp129Gly) | ClinVar dbSNP |
| X | g.154993133T>G | CA414919807 | F8 | c.404A>C (p.Asp135Ala) c.*190A>C (n.*190A>C) c.299A>C (p.Asp100Ala) c.386A>C (p.Asp129Ala) | |
| X | g.154993133T= | CA2466856570 | F8 | c.404A= (p.Asp135=) c.*190A= (n.*190A=) c.299A= (p.Asp100=) c.386A= (p.Asp129=) | |
| X | g.154993134C>A | CA414919808 | F8 | c.403G>T (p.Asp135Tyr) c.*189G>T (n.*189G>T) c.298G>T (p.Asp100Tyr) c.385G>T (p.Asp129Tyr) | ClinVar dbSNP |
| X | g.154993134C= | CA2466856571 | F8 | c.403G= (p.Asp135=) c.*189G= (n.*189G=) c.298G= (p.Asp100=) c.385G= (p.Asp129=) | |
| X | g.154993134C>G | CA414919809 | F8 | c.403G>C (p.Asp135His) c.*189G>C (n.*189G>C) c.298G>C (p.Asp100His) c.385G>C (p.Asp129His) | |
| X | g.154993134C>T | CA414919810 | F8 | c.403G>A (p.Asp135Asn) c.*189G>A (n.*189G>A) c.298G>A (p.Asp100Asn) c.385G>A (p.Asp129Asn) | |
| X | g.154993135A= | CA2466856572 | F8 | c.402T= (p.Asp134=) c.*188T= (n.*188T=) c.297T= (p.Asp99=) c.384T= (p.Asp128=) | |
| X | g.154993135A>C | CA414919811 | F8 | c.402T>G (p.Asp134Glu) c.*188T>G (n.*188T>G) c.297T>G (p.Asp99Glu) c.384T>G (p.Asp128Glu) | |
| X | g.154993135A>G | CA10568588 | F8 | c.402T>C (p.Asp134=) c.*188T>C (n.*188T>C) c.297T>C (p.Asp99=) c.384T>C (p.Asp128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993135A>T | CA414919812 | F8 | c.402T>A (p.Asp134Glu) c.*188T>A (n.*188T>A) c.297T>A (p.Asp99Glu) c.384T>A (p.Asp128Glu) | |
| X | g.154993136T>A | CA414919813 | F8 | c.401A>T (p.Asp134Val) c.*187A>T (n.*187A>T) c.296A>T (p.Asp99Val) c.383A>T (p.Asp128Val) | |
| X | g.154993136T>C | CA414919814 | F8 | c.401A>G (p.Asp134Gly) c.*187A>G (n.*187A>G) c.296A>G (p.Asp99Gly) c.383A>G (p.Asp128Gly) | |
| X | g.154993136T>G | CA414919815 | F8 | c.401A>C (p.Asp134Ala) c.*187A>C (n.*187A>C) c.296A>C (p.Asp99Ala) c.383A>C (p.Asp128Ala) | |
| X | g.154993137C>A | CA414919816 | F8 | c.400G>T (p.Asp134Tyr) c.*186G>T (n.*186G>T) c.295G>T (p.Asp99Tyr) c.382G>T (p.Asp128Tyr) | |
| X | g.154993137C>G | CA414919818 | F8 | c.400G>C (p.Asp134His) c.*186G>C (n.*186G>C) c.295G>C (p.Asp99His) c.382G>C (p.Asp128His) | |
| X | g.154993137C>T | CA414919817 | F8 | c.400G>A (p.Asp134Asn) c.*186G>A (n.*186G>A) c.295G>A (p.Asp99Asn) c.382G>A (p.Asp128Asn) | |
| X | g.154993137_154993138dup | CA2695238469 | F8 | c.399_400dup (p.Asp134ValfsTer28) c.*185_*186dup (n.*185_*186dup) c.294_295dup (p.Asp99ValfsTer28) c.381_382dup (p.Asp128ValfsTer28) | |
| X | g.154993138A>C | CA414919819 | F8 | c.399T>G (p.Tyr133Ter) c.*185T>G (n.*185T>G) c.294T>G (p.Tyr98Ter) c.381T>G (p.Tyr127Ter) | |
| X | g.154993138A>G | CA519373496 | F8 | c.399T>C (p.Tyr133=) c.*185T>C (n.*185T>C) c.294T>C (p.Tyr98=) c.381T>C (p.Tyr127=) | |
| X | g.154993138A>T | CA414919820 | F8 | c.399T>A (p.Tyr133Ter) c.*185T>A (n.*185T>A) c.294T>A (p.Tyr98Ter) c.381T>A (p.Tyr127Ter) | |
| X | g.154993139T>A | CA414919821 | F8 | c.398A>T (p.Tyr133Phe) c.*184A>T (n.*184A>T) c.293A>T (p.Tyr98Phe) c.380A>T (p.Tyr127Phe) | |
| X | g.154993139T>C | CA255061 | F8 | c.398A>G (p.Tyr133Cys) c.*184A>G (n.*184A>G) c.293A>G (p.Tyr98Cys) c.380A>G (p.Tyr127Cys) | ClinVar dbSNP |
| X | g.154993139T>G | CA414919822 | F8 | c.398A>C (p.Tyr133Ser) c.*184A>C (n.*184A>C) c.293A>C (p.Tyr98Ser) c.380A>C (p.Tyr127Ser) | |
| X | g.154993139T= | CA2466856573 | F8 | c.398A= (p.Tyr133=) c.*184A= (n.*184A=) c.293A= (p.Tyr98=) c.380A= (p.Tyr127=) | |
| X | g.154993140A= | CA2466856574 | F8 | c.397T= (p.Tyr133=) c.*183T= (n.*183T=) c.292T= (p.Tyr98=) c.379T= (p.Tyr127=) | |
| X | g.154993140A>C | CA414919823 | F8 | c.397T>G (p.Tyr133Asp) c.*183T>G (n.*183T>G) c.292T>G (p.Tyr98Asp) c.379T>G (p.Tyr127Asp) | |
| X | g.154993140A>G | CA414919824 | F8 | c.397T>C (p.Tyr133His) c.*183T>C (n.*183T>C) c.292T>C (p.Tyr98His) c.379T>C (p.Tyr127His) | dbSNP |
| X | g.154993140A>T | CA414919825 | F8 | c.397T>A (p.Tyr133Asn) c.*183T>A (n.*183T>A) c.292T>A (p.Tyr98Asn) c.379T>A (p.Tyr127Asn) | |
| X | g.154993141T>A | CA414919826 | F8 | c.396A>T (p.Glu132Asp) c.*182A>T (n.*182A>T) c.291A>T (p.Glu97Asp) c.378A>T (p.Glu126Asp) | |
| X | g.154993141T>C | CA519373508 | F8 | c.396A>G (p.Glu132=) c.*182A>G (n.*182A>G) c.291A>G (p.Glu97=) c.378A>G (p.Glu126=) | |
| X | g.154993141T>G | CA255060 | F8 | c.396A>C (p.Glu132Asp) c.*182A>C (n.*182A>C) c.291A>C (p.Glu97Asp) c.378A>C (p.Glu126Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993141T= | CA2466856575 | F8 | c.396A= (p.Glu132=) c.*182A= (n.*182A=) c.291A= (p.Glu97=) c.378A= (p.Glu126=) | |
| X | g.154993142dup | CA2695238470 | F8 | c.396dup (p.Tyr133IlefsTer2) c.*182dup (n.*182dup) c.291dup (p.Tyr98IlefsTer2) c.378dup (p.Tyr127IlefsTer2) | |
| X | g.154993142T>A | CA414919828 | F8 | c.395A>T (p.Glu132Val) c.*181A>T (n.*181A>T) c.290A>T (p.Glu97Val) c.377A>T (p.Glu126Val) | |
| X | g.154993142T>C | CA414919829 | F8 | c.395A>G (p.Glu132Gly) c.*181A>G (n.*181A>G) c.290A>G (p.Glu97Gly) c.377A>G (p.Glu126Gly) | |
| X | g.154993142T>G | CA414919827 | F8 | c.395A>C (p.Glu132Ala) c.*181A>C (n.*181A>C) c.290A>C (p.Glu97Ala) c.377A>C (p.Glu126Ala) | |
| X | g.154993143C>A | CA414919830 | F8 | c.394G>T (p.Glu132Ter) c.*180G>T (n.*180G>T) c.289G>T (p.Glu97Ter) c.376G>T (p.Glu126Ter) | dbSNP |
| X | g.154993143C= | CA2466856576 | F8 | c.394G= (p.Glu132=) c.*180G= (n.*180G=) c.289G= (p.Glu97=) c.376G= (p.Glu126=) | |
| X | g.154993143C>G | CA414919832 | F8 | c.394G>C (p.Glu132Gln) c.*180G>C (n.*180G>C) c.289G>C (p.Glu97Gln) c.376G>C (p.Glu126Gln) | |
| X | g.154993143C>T | CA414919831 | F8 | c.394G>A (p.Glu132Lys) c.*180G>A (n.*180G>A) c.289G>A (p.Glu97Lys) c.376G>A (p.Glu126Lys) | |
| X | g.154993144A>C | CA519373514 | F8 | c.393T>G (p.Ala131=) c.*179T>G (n.*179T>G) c.288T>G (p.Ala96=) c.375T>G (p.Ala125=) | |
| X | g.154993144A>G | CA519373515 | F8 | c.393T>C (p.Ala131=) c.*179T>C (n.*179T>C) c.288T>C (p.Ala96=) c.375T>C (p.Ala125=) | |
| X | g.154993144A>T | CA519373517 | F8 | c.393T>A (p.Ala131=) c.*179T>A (n.*179T>A) c.288T>A (p.Ala96=) c.375T>A (p.Ala125=) |