15 | g.65077514del | CA2628987383 | KBTBD13 | c.699del (p.Asp234ThrfsTer?)
| gnomAD v4 |
15 | g.65077514C>A | CA490898921 | KBTBD13 | c.699C>A (p.Pro233=)
| gnomAD v4 |
15 | g.65077514C= | CA2183440104 | KBTBD13 | c.699C= (p.Pro233=)
| |
15 | g.65077514C>G | CA7613959 | KBTBD13 | c.699C>G (p.Pro233=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077514C>T | CA490898922 | KBTBD13 | c.699C>T (p.Pro233=)
| gnomAD v4 |
15 | g.65077515G>A | CA392862464 | KBTBD13 | c.700G>A (p.Asp234Asn)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077515G>C | CA392862472 | KBTBD13 | c.700G>C (p.Asp234His)
| |
15 | g.65077515G= | CA2183440107 | KBTBD13 | c.700G= (p.Asp234=)
| |
15 | g.65077515G>T | CA392862474 | KBTBD13 | c.700G>T (p.Asp234Tyr)
| gnomAD v4 |
15 | g.65077516A>C | CA392862489 | KBTBD13 | c.701A>C (p.Asp234Ala)
| |
15 | g.65077516A>G | CA392862477 | KBTBD13 | c.701A>G (p.Asp234Gly)
| gnomAD v4 |
15 | g.65077516A>T | CA392862481 | KBTBD13 | c.701A>T (p.Asp234Val)
| |
15 | g.65077517C>A | CA392862494 | KBTBD13 | c.702C>A (p.Asp234Glu)
| gnomAD v4 |
15 | g.65077517C= | CA2183440110 | KBTBD13 | c.702C= (p.Asp234=)
| |
15 | g.65077517C>G | CA392862496 | KBTBD13 | c.702C>G (p.Asp234Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077517C>T | CA7613960 | KBTBD13 | c.702C>T (p.Asp234=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077518G>A | CA392862501 | KBTBD13 | c.703G>A (p.Gly235Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077518G>C | CA392862504 | KBTBD13 | c.703G>C (p.Gly235Arg)
| |
15 | g.65077518G= | CA2183440115 | KBTBD13 | c.703G= (p.Gly235=)
| |
15 | g.65077518G>T | CA392862508 | KBTBD13 | c.703G>T (p.Gly235Cys)
| gnomAD v4 |
15 | g.65077518_65077525delinsGGCGGCAC | CA2183440112 | KBTBD13 | c.703_710delinsGGCGGCAC (p.Gly235=)
| |
15 | g.65077519G>A | CA392862529 | KBTBD13 | c.704G>A (p.Gly235Asp)
| gnomAD v4 |
15 | g.65077519G>C | CA392862525 | KBTBD13 | c.704G>C (p.Gly235Ala)
| |
15 | g.65077519G>T | CA392862513 | KBTBD13 | c.704G>T (p.Gly235Val)
| gnomAD v4 |
15 | g.65077520_65077526del | CA618956829 | KBTBD13 | c.705_711del (p.Trp238SerfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077520C>A | CA490898935 | KBTBD13 | c.705C>A (p.Gly235=)
| gnomAD v4 |
15 | g.65077520C= | CA2183440118 | KBTBD13 | c.705C= (p.Gly235=)
| |
15 | g.65077520C>G | CA490898934 | KBTBD13 | c.705C>G (p.Gly235=)
| gnomAD v4 |
15 | g.65077520C>T | CA490898933 | KBTBD13 | c.705C>T (p.Gly235=)
| dbSNP gnomAD v4 |
15 | g.65077521G>A | CA7613961 | KBTBD13 | c.706G>A (p.Gly236Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077521G>C | CA392862533 | KBTBD13 | c.706G>C (p.Gly236Arg)
| |
15 | g.65077521G= | CA2183440121 | KBTBD13 | c.706G= (p.Gly236=)
| |
15 | g.65077521G>T | CA392862536 | KBTBD13 | c.706G>T (p.Gly236Cys)
| gnomAD v4 |
15 | g.65077522G>A | CA392862549 | KBTBD13 | c.707G>A (p.Gly236Asp)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077522G>C | CA392862552 | KBTBD13 | c.707G>C (p.Gly236Ala)
| |
15 | g.65077522G= | CA2183440125 | KBTBD13 | c.707G= (p.Gly236=)
| |
15 | g.65077522G>T | CA392862556 | KBTBD13 | c.707G>T (p.Gly236Val)
| |
15 | g.65077523C>A | CA490898940 | KBTBD13 | c.708C>A (p.Gly236=)
| gnomAD v4 |
15 | g.65077523C= | CA2183440128 | KBTBD13 | c.708C= (p.Gly236=)
| |
15 | g.65077523C>G | CA490898942 | KBTBD13 | c.708C>G (p.Gly236=)
| |
15 | g.65077523C>T | CA490898941 | KBTBD13 | c.708C>T (p.Gly236=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077524A>C | CA392862563 | KBTBD13 | c.709A>C (p.Thr237Pro)
| |
15 | g.65077524A>G | CA392862559 | KBTBD13 | c.709A>G (p.Thr237Ala)
| |
15 | g.65077524A>T | CA392862560 | KBTBD13 | c.709A>T (p.Thr237Ser)
| |
15 | g.65077525C>A | CA392862568 | KBTBD13 | c.710C>A (p.Thr237Lys)
| gnomAD v4 |
15 | g.65077525C= | CA2183440129 | KBTBD13 | c.710C= (p.Thr237=)
| |
15 | g.65077525C>G | CA392862571 | KBTBD13 | c.710C>G (p.Thr237Arg)
| |
15 | g.65077525C>T | CA271503937 | KBTBD13 | c.710C>T (p.Thr237Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077526G>A | CA7613962 | KBTBD13 | c.711G>A (p.Thr237=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077526G>C | CA490898946 | KBTBD13 | c.711G>C (p.Thr237=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077526G= | CA2183440130 | KBTBD13 | c.711G= (p.Thr237=)
| |
15 | g.65077526G>T | CA490898947 | KBTBD13 | c.711G>T (p.Thr237=)
| gnomAD v4 |
15 | g.65077527T>A | CA392862578 | KBTBD13 | c.712T>A (p.Trp238Arg)
| |
15 | g.65077527T>C | CA392862581 | KBTBD13 | c.712T>C (p.Trp238Arg)
| gnomAD v4 |
15 | g.65077527T>G | CA392862583 | KBTBD13 | c.712T>G (p.Trp238Gly)
| |
15 | g.65077528G>A | CA392862587 | KBTBD13 | c.713G>A (p.Trp238Ter)
| gnomAD v4 |
15 | g.65077528G>C | CA392862590 | KBTBD13 | c.713G>C (p.Trp238Ser)
| |
15 | g.65077528G>T | CA392862591 | KBTBD13 | c.713G>T (p.Trp238Leu)
| gnomAD v4 |
15 | g.65077529G>A | CA392862592 | KBTBD13 | c.714G>A (p.Trp238Ter)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077529G>C | CA392862595 | KBTBD13 | c.714G>C (p.Trp238Cys)
| |
15 | g.65077529G= | CA2183440133 | KBTBD13 | c.714G= (p.Trp238=)
| |
15 | g.65077529G>T | CA392862597 | KBTBD13 | c.714G>T (p.Trp238Cys)
| |
15 | g.65077530C>A | CA392862600 | KBTBD13 | c.715C>A (p.His239Asn)
| gnomAD v4 |
15 | g.65077530C>G | CA392862610 | KBTBD13 | c.715C>G (p.His239Asp)
| |
15 | g.65077530C>T | CA392862604 | KBTBD13 | c.715C>T (p.His239Tyr)
| |
15 | g.65077531A>C | CA392862617 | KBTBD13 | c.716A>C (p.His239Pro)
| |
15 | g.65077531A>G | CA392862620 | KBTBD13 | c.716A>G (p.His239Arg)
| |
15 | g.65077531A>T | CA392862622 | KBTBD13 | c.716A>T (p.His239Leu)
| |
15 | g.65077532C>A | CA392862628 | KBTBD13 | c.717C>A (p.His239Gln)
| gnomAD v4 |
15 | g.65077532C= | CA2183440134 | KBTBD13 | c.717C= (p.His239=)
| |
15 | g.65077532C>G | CA271503949 | KBTBD13 | c.717C>G (p.His239Gln)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077532C>T | CA271503951 | KBTBD13 | c.717C>T (p.His239=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077533G>A | CA392862637 | KBTBD13 | c.718G>A (p.Glu240Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077533G>C | CA392862638 | KBTBD13 | c.718G>C (p.Glu240Gln)
| |
15 | g.65077533G= | CA2183440137 | KBTBD13 | c.718G= (p.Glu240=)
| |
15 | g.65077533G>T | CA392862639 | KBTBD13 | c.718G>T (p.Glu240Ter)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077534A>C | CA392862641 | KBTBD13 | c.719A>C (p.Glu240Ala)
| |
15 | g.65077534A>G | CA392862644 | KBTBD13 | c.719A>G (p.Glu240Gly)
| gnomAD v4 |
15 | g.65077534A>T | CA392862646 | KBTBD13 | c.719A>T (p.Glu240Val)
| gnomAD v4 |
15 | g.65077535G>A | CA490898962 | KBTBD13 | c.720G>A (p.Glu240=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077535G>C | CA392862652 | KBTBD13 | c.720G>C (p.Glu240Asp)
| |
15 | g.65077535G= | CA2183440142 | KBTBD13 | c.720G= (p.Glu240=)
| |
15 | g.65077535G>T | CA392862658 | KBTBD13 | c.720G>T (p.Glu240Asp)
| gnomAD v4 |
15 | g.65077536T>A | CA392862676 | KBTBD13 | c.721T>A (p.Phe241Ile)
| |
15 | g.65077536T>C | CA392862667 | KBTBD13 | c.721T>C (p.Phe241Leu)
| gnomAD v4 |
15 | g.65077536T>G | CA392862672 | KBTBD13 | c.721T>G (p.Phe241Val)
| |
15 | g.65077537T>A | CA392862683 | KBTBD13 | c.722T>A (p.Phe241Tyr)
| |
15 | g.65077537T>C | CA392862687 | KBTBD13 | c.722T>C (p.Phe241Ser)
| dbSNP |
15 | g.65077537T>G | CA392862692 | KBTBD13 | c.722T>G (p.Phe241Cys)
| dbSNP |
15 | g.65077537T= | CA2183440144 | KBTBD13 | c.722T= (p.Phe241=)
| |
15 | g.65077538C>A | CA392862701 | KBTBD13 | c.723C>A (p.Phe241Leu)
| gnomAD v4 |
15 | g.65077538C= | CA2183440148 | KBTBD13 | c.723C= (p.Phe241=)
| |
15 | g.65077538C>G | CA392862705 | KBTBD13 | c.723C>G (p.Phe241Leu)
| |
15 | g.65077538C>T | CA490898970 | KBTBD13 | c.723C>T (p.Phe241=)
| dbSNP gnomAD v4 |
15 | g.65077541del | CA2628987438 | KBTBD13 | c.726del (p.Ser243AlafsTer?)
| gnomAD v4 |
15 | g.65077539C>A | CA392862711 | KBTBD13 | c.724C>A (p.Pro242Thr)
| |
15 | g.65077539C= | CA2183440151 | KBTBD13 | c.724C= (p.Pro242=)
| |
15 | g.65077539C>G | CA7613963 | KBTBD13 | c.724C>G (p.Pro242Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077539C>T | CA392862717 | KBTBD13 | c.724C>T (p.Pro242Ser)
| gnomAD v4 |
15 | g.65077539_65077549delinsCCCAGCCCGCA | CA2183440152 | KBTBD13 | c.724_734delinsCCCAGCCCGCA (p.Pro242=)
| |
15 | g.65077540C>A | CA392862727 | KBTBD13 | c.725C>A (p.Pro242His)
| gnomAD v4 |
15 | g.65077540C= | CA2183440156 | KBTBD13 | c.725C= (p.Pro242=)
| |
15 | g.65077540C>G | CA392862730 | KBTBD13 | c.725C>G (p.Pro242Arg)
| dbSNP |
15 | g.65077540C>T | CA392862732 | KBTBD13 | c.725C>T (p.Pro242Leu)
| dbSNP gnomAD v2 |
15 | g.65077546_65077555del | CA919576526 | KBTBD13 | c.731_740del (p.Pro244ArgfsTer?)
| dbSNP |
15 | g.65077541C>A | CA490898973 | KBTBD13 | c.726C>A (p.Pro242=)
| gnomAD v4 |
15 | g.65077541C>G | CA490898974 | KBTBD13 | c.726C>G (p.Pro242=)
| |
15 | g.65077541C>T | CA490898975 | KBTBD13 | c.726C>T (p.Pro242=)
| |
15 | g.65077542A= | CA2183440160 | KBTBD13 | c.727A= (p.Ser243=)
| |
15 | g.65077542A>C | CA392862742 | KBTBD13 | c.727A>C (p.Ser243Arg)
| |
15 | g.65077542A>G | CA392862735 | KBTBD13 | c.727A>G (p.Ser243Gly)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077542A>T | CA392862739 | KBTBD13 | c.727A>T (p.Ser243Cys)
| gnomAD v4 |
15 | g.65077543G>A | CA392862746 | KBTBD13 | c.728G>A (p.Ser243Asn)
| |
15 | g.65077543G>C | CA392862748 | KBTBD13 | c.728G>C (p.Ser243Thr)
| gnomAD v4 |
15 | g.65077543G>T | CA392862750 | KBTBD13 | c.728G>T (p.Ser243Ile)
| gnomAD v4 |
15 | g.65077544C>A | CA392862754 | KBTBD13 | c.729C>A (p.Ser243Arg)
| gnomAD v4 |
15 | g.65077544C= | CA2183440163 | KBTBD13 | c.729C= (p.Ser243=)
| |
15 | g.65077544C>G | CA7613964 | KBTBD13 | c.729C>G (p.Ser243Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077544C>T | CA490898980 | KBTBD13 | c.729C>T (p.Ser243=)
| |
15 | g.65077545C>A | CA392862764 | KBTBD13 | c.730C>A (p.Pro244Thr)
| gnomAD v4 |
15 | g.65077545C= | CA2183440167 | KBTBD13 | c.730C= (p.Pro244=)
| |
15 | g.65077545C>G | CA392862773 | KBTBD13 | c.730C>G (p.Pro244Ala)
| |
15 | g.65077545C>T | CA392862779 | KBTBD13 | c.730C>T (p.Pro244Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077546_65077548dup | CA2628987440 | KBTBD13 | c.731_733dup (p.Pro244_His245insPro)
| gnomAD v4 |
15 | g.65077546C>A | CA392862786 | KBTBD13 | c.731C>A (p.Pro244Gln)
| gnomAD v4 |
15 | g.65077546C= | CA2183440170 | KBTBD13 | c.731C= (p.Pro244=)
| |
15 | g.65077546C>G | CA392862791 | KBTBD13 | c.731C>G (p.Pro244Arg)
| dbSNP |
15 | g.65077546C>T | CA392862789 | KBTBD13 | c.731C>T (p.Pro244Leu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077547G>A | CA7613965 | KBTBD13 | c.732G>A (p.Pro244=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077547G>C | CA490898987 | KBTBD13 | c.732G>C (p.Pro244=)
| dbSNP |
15 | g.65077547G= | CA2183440174 | KBTBD13 | c.732G= (p.Pro244=)
| |
15 | g.65077547G>T | CA490898989 | KBTBD13 | c.732G>T (p.Pro244=)
| gnomAD v4 |
15 | g.65077548C>A | CA392862795 | KBTBD13 | c.733C>A (p.His245Asn)
| gnomAD v4 |
15 | g.65077548C>G | CA392862797 | KBTBD13 | c.733C>G (p.His245Asp)
| |
15 | g.65077548C>T | CA392862800 | KBTBD13 | c.733C>T (p.His245Tyr)
| gnomAD v4 |
15 | g.65077549A= | CA2183440178 | KBTBD13 | c.734A= (p.His245=)
| |
15 | g.65077549A>C | CA271503983 | KBTBD13 | c.734A>C (p.His245Pro)
| dbSNP gnomAD v4 |
15 | g.65077549A>G | CA392862806 | KBTBD13 | c.734A>G (p.His245Arg)
| |
15 | g.65077549A>T | CA392862810 | KBTBD13 | c.734A>T (p.His245Leu)
| |
15 | g.65077550C>A | CA392862814 | KBTBD13 | c.735C>A (p.His245Gln)
| gnomAD v4 |
15 | g.65077550C>G | CA392862817 | KBTBD13 | c.735C>G (p.His245Gln)
| gnomAD v4 |
15 | g.65077550C>T | CA490898999 | KBTBD13 | c.735C>T (p.His245=)
| gnomAD v4 |
15 | g.65077552_65077555dup | CA2628987441 | KBTBD13 | c.737_740dup (p.Arg248AlafsTer4)
| gnomAD v4 |
15 | g.65077551C>A | CA392862820 | KBTBD13 | c.736C>A (p.Gln246Lys)
| dbSNP |
15 | g.65077551C= | CA2183440182 | KBTBD13 | c.736C= (p.Gln246=)
| |
15 | g.65077551C>G | CA392862821 | KBTBD13 | c.736C>G (p.Gln246Glu)
| |
15 | g.65077551C>T | CA392862823 | KBTBD13 | c.736C>T (p.Gln246Ter)
| gnomAD v4 |
15 | g.65077552A>C | CA392862827 | KBTBD13 | c.737A>C (p.Gln246Pro)
| |
15 | g.65077552A>G | CA392862828 | KBTBD13 | c.737A>G (p.Gln246Arg)
| |
15 | g.65077552A>T | CA392862829 | KBTBD13 | c.737A>T (p.Gln246Leu)
| |
15 | g.65077553G>A | CA490899005 | KBTBD13 | c.738G>A (p.Gln246=)
| ClinVar gnomAD v4 |
15 | g.65077553G>C | CA392862830 | KBTBD13 | c.738G>C (p.Gln246His)
| |
15 | g.65077553G>T | CA392862832 | KBTBD13 | c.738G>T (p.Gln246His)
| gnomAD v4 |
15 | g.65077554C>A | CA392862846 | KBTBD13 | c.739C>A (p.Pro247Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077554C= | CA2183440184 | KBTBD13 | c.739C= (p.Pro247=)
| |
15 | g.65077554C>G | CA392862853 | KBTBD13 | c.739C>G (p.Pro247Ala)
| |
15 | g.65077554C>T | CA392862856 | KBTBD13 | c.739C>T (p.Pro247Ser)
| gnomAD v4 |
15 | g.65077555C>A | CA271503990 | KBTBD13 | c.740C>A (p.Pro247Gln)
| dbSNP gnomAD v4 |
15 | g.65077555C= | CA2183440188 | KBTBD13 | c.740C= (p.Pro247=)
| |
15 | g.65077555C>G | CA392862861 | KBTBD13 | c.740C>G (p.Pro247Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077555C>T | CA7613966 | KBTBD13 | c.740C>T (p.Pro247Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077556G>A | CA490899013 | KBTBD13 | c.741G>A (p.Pro247=)
| gnomAD v4 |
15 | g.65077556G>C | CA490899014 | KBTBD13 | c.741G>C (p.Pro247=)
| dbSNP |
15 | g.65077556G= | CA2183440191 | KBTBD13 | c.741G= (p.Pro247=)
| |
15 | g.65077556G>T | CA490899015 | KBTBD13 | c.741G>T (p.Pro247=)
| gnomAD v4 |
15 | g.65077557C>A | CA259983 | KBTBD13 | c.742C>A (p.Arg248Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077557C= | CA2183440199 | KBTBD13 | c.742C= (p.Arg248=)
| |
15 | g.65077557C>G | CA392862891 | KBTBD13 | c.742C>G (p.Arg248Gly)
| |
15 | g.65077557C>T | CA7613967 | KBTBD13 | c.742C>T (p.Arg248Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077558G>A | CA392862895 | KBTBD13 | c.743G>A (p.Arg248His)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077558G>C | CA392862896 | KBTBD13 | c.743G>C (p.Arg248Pro)
| |
15 | g.65077558G= | CA2183440204 | KBTBD13 | c.743G= (p.Arg248=)
| |
15 | g.65077558G>T | CA392862900 | KBTBD13 | c.743G>T (p.Arg248Leu)
| gnomAD v4 |
15 | g.65077559C>A | CA490899021 | KBTBD13 | c.744C>A (p.Arg248=)
| gnomAD v4 |
15 | g.65077559C= | CA2183440207 | KBTBD13 | c.744C= (p.Arg248=)
| |
15 | g.65077559C>G | CA490899023 | KBTBD13 | c.744C>G (p.Arg248=)
| |
15 | g.65077559C>T | CA271503998 | KBTBD13 | c.744C>T (p.Arg248=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077560T>A | CA392862917 | KBTBD13 | c.745T>A (p.Tyr249Asn)
| |
15 | g.65077560T>C | CA392862905 | KBTBD13 | c.745T>C (p.Tyr249His)
| gnomAD v4 |
15 | g.65077560T>G | CA392862914 | KBTBD13 | c.745T>G (p.Tyr249Asp)
| |
15 | g.65077561A= | CA2183440210 | KBTBD13 | c.746A= (p.Tyr249=)
| |
15 | g.65077561A>C | CA392862922 | KBTBD13 | c.746A>C (p.Tyr249Ser)
| |
15 | g.65077561A>G | CA392862923 | KBTBD13 | c.746A>G (p.Tyr249Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077561A>T | CA392862924 | KBTBD13 | c.746A>T (p.Tyr249Phe)
| |
15 | g.65077562T>A | CA392862925 | KBTBD13 | c.747T>A (p.Tyr249Ter)
| |
15 | g.65077562T>C | CA490899031 | KBTBD13 | c.747T>C (p.Tyr249=)
| |
15 | g.65077562T>G | CA392862927 | KBTBD13 | c.747T>G (p.Tyr249Ter)
| |
15 | g.65077563G>A | CA392862948 | KBTBD13 | c.748G>A (p.Asp250Asn)
| gnomAD v2 |
15 | g.65077563G>C | CA392862935 | KBTBD13 | c.748G>C (p.Asp250His)
| |
15 | g.65077563G>T | CA392862940 | KBTBD13 | c.748G>T (p.Asp250Tyr)
| |
15 | g.65077563_65077565delinsGAC | CA2183440212 | KBTBD13 | c.748_750delinsGAC (p.Asp250=)
| |
15 | g.65077564A= | CA2183440215 | KBTBD13 | c.749A= (p.Asp250=)
| |
15 | g.65077564A>C | CA392862949 | KBTBD13 | c.749A>C (p.Asp250Ala)
| |
15 | g.65077564A>G | CA392862951 | KBTBD13 | c.749A>G (p.Asp250Gly)
| |
15 | g.65077564A>T | CA392862953 | KBTBD13 | c.749A>T (p.Asp250Val)
| dbSNP gnomAD v4 |
15 | g.65077567_65077568del | CA7613968 | KBTBD13 | c.752_753del (p.Thr251SerfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077565C>A | CA392862959 | KBTBD13 | c.750C>A (p.Asp250Glu)
| gnomAD v4 |
15 | g.65077565C>G | CA392862962 | KBTBD13 | c.750C>G (p.Asp250Glu)
| gnomAD v4 |
15 | g.65077565C>T | CA490899037 | KBTBD13 | c.750C>T (p.Asp250=)
| gnomAD v4 |
15 | g.65077566A= | CA2183440218 | KBTBD13 | c.751A= (p.Thr251=)
| |
15 | g.65077566A>C | CA7613970 | KBTBD13 | c.751A>C (p.Thr251Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077566A>G | CA7613969 | KBTBD13 | c.751A>G (p.Thr251Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077566A>T | CA392862980 | KBTBD13 | c.751A>T (p.Thr251Ser)
| |
15 | g.65077567C>A | CA392862982 | KBTBD13 | c.752C>A (p.Thr251Lys)
| |
15 | g.65077567C>G | CA392862983 | KBTBD13 | c.752C>G (p.Thr251Arg)
| gnomAD v4 |
15 | g.65077567C>T | CA392862987 | KBTBD13 | c.752C>T (p.Thr251Ile)
| |
15 | g.65077568_65077572del | CA2628987444 | KBTBD13 | c.753_757del (p.Ala252GlyfsTer?)
| gnomAD v4 |
15 | g.65077568A>C | CA490899053 | KBTBD13 | c.753A>C (p.Thr251=)
| |
15 | g.65077568A>G | CA490899056 | KBTBD13 | c.753A>G (p.Thr251=)
| |
15 | g.65077568A>T | CA490899057 | KBTBD13 | c.753A>T (p.Thr251=)
| |
15 | g.65077569G>A | CA392862992 | KBTBD13 | c.754G>A (p.Ala252Thr)
| gnomAD v4 |
15 | g.65077569G>C | CA392862998 | KBTBD13 | c.754G>C (p.Ala252Pro)
| |
15 | g.65077569G>T | CA392862996 | KBTBD13 | c.754G>T (p.Ala252Ser)
| gnomAD v4 |
15 | g.65077570C>A | CA392863005 | KBTBD13 | c.755C>A (p.Ala252Glu)
| gnomAD v4 |
15 | g.65077570C= | CA2183440221 | KBTBD13 | c.755C= (p.Ala252=)
| |
15 | g.65077570C>G | CA392863012 | KBTBD13 | c.755C>G (p.Ala252Gly)
| gnomAD v4 |
15 | g.65077570C>T | CA392863009 | KBTBD13 | c.755C>T (p.Ala252Val)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077571del | CA2628987445 | KBTBD13 | c.756del (p.Leu253TrpfsTer?)
| gnomAD v4 |
15 | g.65077571G>A | CA490899065 | KBTBD13 | c.756G>A (p.Ala252=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077571G>C | CA490899066 | KBTBD13 | c.756G>C (p.Ala252=)
| dbSNP |
15 | g.65077571G= | CA2183440227 | KBTBD13 | c.756G= (p.Ala252=)
| |
15 | g.65077571G>T | CA490899067 | KBTBD13 | c.756G>T (p.Ala252=)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077571_65077572delinsAA | CA1139664033 | KBTBD13 | c.756_757delinsAA (p.Leu253Met)
| ClinVar dbSNP |
15 | g.65077571_65077572delinsGC | CA2183440229 | KBTBD13 | c.756_757delinsGC (p.Ala252=)
| |
15 | g.65077572C>A | CA7613971 | KBTBD13 | c.757C>A (p.Leu253Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077572C= | CA2183440236 | KBTBD13 | c.757C= (p.Leu253=)
| |
15 | g.65077572C>G | CA392863018 | KBTBD13 | c.757C>G (p.Leu253Val)
| dbSNP gnomAD v4 |
15 | g.65077572C>T | CA490899070 | KBTBD13 | c.757C>T (p.Leu253=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077573T>A | CA392863022 | KBTBD13 | c.758T>A (p.Leu253Gln)
| COSMIC |
15 | g.65077573T>C | CA392863027 | KBTBD13 | c.758T>C (p.Leu253Pro)
| |
15 | g.65077573T>G | CA392863029 | KBTBD13 | c.758T>G (p.Leu253Arg)
| |
15 | g.65077574G>A | CA490899074 | KBTBD13 | c.759G>A (p.Leu253=)
| gnomAD v4 |
15 | g.65077574G>C | CA490899072 | KBTBD13 | c.759G>C (p.Leu253=)
| |
15 | g.65077574G>T | CA490899071 | KBTBD13 | c.759G>T (p.Leu253=)
| |
15 | g.65077574_65077597del | CA2628987446 | KBTBD13 | c.759_782del (p.Ala254_Tyr261del)
| gnomAD v4 |
15 | g.65077575G>A | CA392863032 | KBTBD13 | c.760G>A (p.Ala254Thr)
| gnomAD v4 |
15 | g.65077575G>C | CA392863033 | KBTBD13 | c.760G>C (p.Ala254Pro)
| gnomAD v4 |
15 | g.65077575G>T | CA392863034 | KBTBD13 | c.760G>T (p.Ala254Ser)
| gnomAD v4 |
15 | g.65077576C>A | CA392863037 | KBTBD13 | c.761C>A (p.Ala254Asp)
| gnomAD v4 |
15 | g.65077576C>G | CA392863039 | KBTBD13 | c.761C>G (p.Ala254Gly)
| |
15 | g.65077576C>T | CA392863041 | KBTBD13 | c.761C>T (p.Ala254Val)
| gnomAD v4 |
15 | g.65077577C>A | CA490899077 | KBTBD13 | c.762C>A (p.Ala254=)
| gnomAD v4 |
15 | g.65077577C= | CA2183440241 | KBTBD13 | c.762C= (p.Ala254=)
| |
15 | g.65077577C>G | CA490899078 | KBTBD13 | c.762C>G (p.Ala254=)
| |
15 | g.65077577C>T | CA490899080 | KBTBD13 | c.762C>T (p.Ala254=)
| dbSNP gnomAD v4 |
15 | g.65077578G>A | CA392863052 | KBTBD13 | c.763G>A (p.Gly255Ser)
| gnomAD v4 |
15 | g.65077578G>C | CA392863048 | KBTBD13 | c.763G>C (p.Gly255Arg)
| |
15 | g.65077578G>T | CA392863047 | KBTBD13 | c.763G>T (p.Gly255Cys)
| gnomAD v4 |
15 | g.65077579del | CA2628987448 | KBTBD13 | c.764del (p.Gly255AlafsTer?)
| gnomAD v4 |
15 | g.65077579G>A | CA392863059 | KBTBD13 | c.764G>A (p.Gly255Asp)
| gnomAD v4 |
15 | g.65077579G>C | CA392863077 | KBTBD13 | c.764G>C (p.Gly255Ala)
| |
15 | g.65077579G>T | CA392863086 | KBTBD13 | c.764G>T (p.Gly255Val)
| dbSNP gnomAD v4 |
15 | g.65077580C>A | CA490899082 | KBTBD13 | c.765C>A (p.Gly255=)
| gnomAD v4 |
15 | g.65077580C= | CA2183440243 | KBTBD13 | c.765C= (p.Gly255=)
| |
15 | g.65077580C>G | CA490899083 | KBTBD13 | c.765C>G (p.Gly255=)
| |
15 | g.65077580C>T | CA490899085 | KBTBD13 | c.765C>T (p.Gly255=)
| dbSNP gnomAD v4 |
15 | g.65077581T>A | CA392863091 | KBTBD13 | c.766T>A (p.Phe256Ile)
| |
15 | g.65077581T>C | CA392863094 | KBTBD13 | c.766T>C (p.Phe256Leu)
| gnomAD v4 |
15 | g.65077581T>G | CA392863095 | KBTBD13 | c.766T>G (p.Phe256Val)
| |
15 | g.65077582T>A | CA392863096 | KBTBD13 | c.767T>A (p.Phe256Tyr)
| |
15 | g.65077582T>C | CA392863097 | KBTBD13 | c.767T>C (p.Phe256Ser)
| dbSNP |
15 | g.65077582T>G | CA392863099 | KBTBD13 | c.767T>G (p.Phe256Cys)
| |
15 | g.65077583C>A | CA392863102 | KBTBD13 | c.768C>A (p.Phe256Leu)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077583C= | CA2183440246 | KBTBD13 | c.768C= (p.Phe256=)
| |
15 | g.65077583C>G | CA392863105 | KBTBD13 | c.768C>G (p.Phe256Leu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077583C>T | CA7613972 | KBTBD13 | c.768C>T (p.Phe256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077584G>A | CA392863113 | KBTBD13 | c.769G>A (p.Asp257Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.65077584G>C | CA7613973 | KBTBD13 | c.769G>C (p.Asp257His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077584G= | CA2183440254 | KBTBD13 | c.769G= (p.Asp257=)
| |
15 | g.65077584G>T | CA392863112 | KBTBD13 | c.769G>T (p.Asp257Tyr)
| gnomAD v4 |
15 | g.65077585A>C | CA392863118 | KBTBD13 | c.770A>C (p.Asp257Ala)
| |
15 | g.65077585A>G | CA392863120 | KBTBD13 | c.770A>G (p.Asp257Gly)
| gnomAD v4 |
15 | g.65077585A>T | CA392863124 | KBTBD13 | c.770A>T (p.Asp257Val)
| |
15 | g.65077586C>A | CA392863127 | KBTBD13 | c.771C>A (p.Asp257Glu)
| gnomAD v4 |
15 | g.65077586C= | CA2183440259 | KBTBD13 | c.771C= (p.Asp257=)
| |
15 | g.65077586C>G | CA392863131 | KBTBD13 | c.771C>G (p.Asp257Glu)
| |
15 | g.65077586C>T | CA490899098 | KBTBD13 | c.771C>T (p.Asp257=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077587G>A | CA392863136 | KBTBD13 | c.772G>A (p.Gly258Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077587G>C | CA392863140 | KBTBD13 | c.772G>C (p.Gly258Arg)
| |
15 | g.65077587G= | CA2183440263 | KBTBD13 | c.772G= (p.Gly258=)
| |
15 | g.65077587G>T | CA7613974 | KBTBD13 | c.772G>T (p.Gly258Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077588G>A | CA392863148 | KBTBD13 | c.773G>A (p.Gly258Asp)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077588G>C | CA392863149 | KBTBD13 | c.773G>C (p.Gly258Ala)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077588G= | CA2183440266 | KBTBD13 | c.773G= (p.Gly258=)
| |
15 | g.65077588G>T | CA392863150 | KBTBD13 | c.773G>T (p.Gly258Val)
| dbSNP gnomAD v4 |
15 | g.65077589C>A | CA490899102 | KBTBD13 | c.774C>A (p.Gly258=)
| gnomAD v4 |
15 | g.65077589C= | CA2183440269 | KBTBD13 | c.774C= (p.Gly258=)
| |
15 | g.65077589C>G | CA490899104 | KBTBD13 | c.774C>G (p.Gly258=)
| |
15 | g.65077589C>T | CA7613975 | KBTBD13 | c.774C>T (p.Gly258=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077590C>A | CA392863159 | KBTBD13 | c.775C>A (p.Arg259Ser)
| gnomAD v4 |
15 | g.65077590C= | CA2183440277 | KBTBD13 | c.775C= (p.Arg259=)
| |
15 | g.65077590C>G | CA7613977 | KBTBD13 | c.775C>G (p.Arg259Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077590C>T | CA7613976 | KBTBD13 | c.775C>T (p.Arg259Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077591G>A | CA392863163 | KBTBD13 | c.776G>A (p.Arg259His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077591G>C | CA392863165 | KBTBD13 | c.776G>C (p.Arg259Pro)
| |
15 | g.65077591G= | CA2183440281 | KBTBD13 | c.776G= (p.Arg259=)
| |
15 | g.65077591G>T | CA392863168 | KBTBD13 | c.776G>T (p.Arg259Leu)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077592C>A | CA490899105 | KBTBD13 | c.777C>A (p.Arg259=)
| gnomAD v4 |
15 | g.65077592C>G | CA490899106 | KBTBD13 | c.777C>G (p.Arg259=)
| |
15 | g.65077592C>T | CA490899107 | KBTBD13 | c.777C>T (p.Arg259=)
| gnomAD v4 |
15 | g.65077593C>A | CA392863172 | KBTBD13 | c.778C>A (p.Leu260Ile)
| gnomAD v4 |
15 | g.65077593C= | CA2183440284 | KBTBD13 | c.778C= (p.Leu260=)
| |
15 | g.65077593C>G | CA392863176 | KBTBD13 | c.778C>G (p.Leu260Val)
| |
15 | g.65077593C>T | CA7613978 | KBTBD13 | c.778C>T (p.Leu260Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077594T>A | CA392863190 | KBTBD13 | c.779T>A (p.Leu260His)
| gnomAD v4 |
15 | g.65077594T>C | CA392863192 | KBTBD13 | c.779T>C (p.Leu260Pro)
| |
15 | g.65077594T>G | CA392863194 | KBTBD13 | c.779T>G (p.Leu260Arg)
| gnomAD v4 |
15 | g.65077595C>A | CA490899111 | KBTBD13 | c.780C>A (p.Leu260=)
| gnomAD v4 |
15 | g.65077595C= | CA2183440288 | KBTBD13 | c.780C= (p.Leu260=)
| |
15 | g.65077595C>G | CA490899113 | KBTBD13 | c.780C>G (p.Leu260=)
| dbSNP gnomAD v4 |
15 | g.65077595C>T | CA490899112 | KBTBD13 | c.780C>T (p.Leu260=)
| gnomAD v4 |
15 | g.65077596T>A | CA392863201 | KBTBD13 | c.781T>A (p.Tyr261Asn)
| |
15 | g.65077596T>C | CA7613979 | KBTBD13 | c.781T>C (p.Tyr261His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077596T>G | CA392863207 | KBTBD13 | c.781T>G (p.Tyr261Asp)
| |
15 | g.65077596T= | CA2183440291 | KBTBD13 | c.781T= (p.Tyr261=)
| |
15 | g.65077597A= | CA2183440293 | KBTBD13 | c.782A= (p.Tyr261=)
| |
15 | g.65077597A>C | CA392863215 | KBTBD13 | c.782A>C (p.Tyr261Ser)
| |
15 | g.65077597A>G | CA271504040 | KBTBD13 | c.782A>G (p.Tyr261Cys)
| ClinVar dbSNP |
15 | g.65077597A>T | CA392863218 | KBTBD13 | c.782A>T (p.Tyr261Phe)
| |
15 | g.65077598C>A | CA7613980 | KBTBD13 | c.783C>A (p.Tyr261Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077598C= | CA2183440296 | KBTBD13 | c.783C= (p.Tyr261=)
| |
15 | g.65077598C>G | CA392863220 | KBTBD13 | c.783C>G (p.Tyr261Ter)
| gnomAD v4 |
15 | g.65077598C>T | CA490899121 | KBTBD13 | c.783C>T (p.Tyr261=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.65077599G>A | CA392863225 | KBTBD13 | c.784G>A (p.Ala262Thr)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077599G>C | CA392863229 | KBTBD13 | c.784G>C (p.Ala262Pro)
| |
15 | g.65077599G= | CA2183440300 | KBTBD13 | c.784G= (p.Ala262=)
| |
15 | g.65077599G>T | CA392863231 | KBTBD13 | c.784G>T (p.Ala262Ser)
| gnomAD v4 |
15 | g.65077600C>A | CA392863236 | KBTBD13 | c.785C>A (p.Ala262Asp)
| gnomAD v4 |
15 | g.65077600C= | CA2183440302 | KBTBD13 | c.785C= (p.Ala262=)
| |
15 | g.65077600C>G | CA392863239 | KBTBD13 | c.785C>G (p.Ala262Gly)
| |
15 | g.65077600C>T | CA392863244 | KBTBD13 | c.785C>T (p.Ala262Val)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077601C>A | CA490899123 | KBTBD13 | c.786C>A (p.Ala262=)
| gnomAD v4 |
15 | g.65077601C>G | CA490899125 | KBTBD13 | c.786C>G (p.Ala262=)
| |
15 | g.65077601C>T | CA490899127 | KBTBD13 | c.786C>T (p.Ala262=)
| gnomAD v4 |
15 | g.65077602A>C | CA392863260 | KBTBD13 | c.787A>C (p.Ile263Leu)
| |
15 | g.65077602A>G | CA392863258 | KBTBD13 | c.787A>G (p.Ile263Val)
| gnomAD v4 |
15 | g.65077602A>T | CA392863257 | KBTBD13 | c.787A>T (p.Ile263Phe)
| |
15 | g.65077603T>A | CA392863263 | KBTBD13 | c.788T>A (p.Ile263Asn)
| |
15 | g.65077603T>C | CA392863268 | KBTBD13 | c.788T>C (p.Ile263Thr)
| |
15 | g.65077603T>G | CA392863272 | KBTBD13 | c.788T>G (p.Ile263Ser)
| |
15 | g.65077604C>A | CA7613982 | KBTBD13 | c.789C>A (p.Ile263=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077604C= | CA2183440306 | KBTBD13 | c.789C= (p.Ile263=)
| |
15 | g.65077604C>G | CA392863275 | KBTBD13 | c.789C>G (p.Ile263Met)
| gnomAD v4 |
15 | g.65077604C>T | CA7613981 | KBTBD13 | c.789C>T (p.Ile263=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077605G>A | CA392863299 | KBTBD13 | c.790G>A (p.Gly264Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077605G>C | CA7613983 | KBTBD13 | c.790G>C (p.Gly264Arg)
| dbSNP ExAC gnomAD v4 |
15 | g.65077605G= | CA2183440310 | KBTBD13 | c.790G= (p.Gly264=)
| |
15 | g.65077605G>T | CA392863289 | KBTBD13 | c.790G>T (p.Gly264Cys)
| gnomAD v4 |
15 | g.65077606dup | CA2841052211 | KBTBD13 | c.791dup (p.Gly265ArgfsTer?)
| |
15 | g.65077606G>A | CA392863305 | KBTBD13 | c.791G>A (p.Gly264Asp)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.65077606G>C | CA392863308 | KBTBD13 | c.791G>C (p.Gly264Ala)
| gnomAD v4 |
15 | g.65077606G= | CA2183440314 | KBTBD13 | c.791G= (p.Gly264=)
| |
15 | g.65077606G>T | CA392863313 | KBTBD13 | c.791G>T (p.Gly264Val)
| gnomAD v4 |
15 | g.65077607C>A | CA490899138 | KBTBD13 | c.792C>A (p.Gly264=)
| gnomAD v4 |
15 | g.65077607C= | CA2183440316 | KBTBD13 | c.792C= (p.Gly264=)
| |
15 | g.65077607C>G | CA490899139 | KBTBD13 | c.792C>G (p.Gly264=)
| gnomAD v4 |
15 | g.65077607C>T | CA490899140 | KBTBD13 | c.792C>T (p.Gly264=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077608G>A | CA271504068 | KBTBD13 | c.793G>A (p.Gly265Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077608G>C | CA392863321 | KBTBD13 | c.793G>C (p.Gly265Arg)
| gnomAD v4 |
15 | g.65077608G= | CA2183440322 | KBTBD13 | c.793G= (p.Gly265=)
| |
15 | g.65077608G>T | CA7613984 | KBTBD13 | c.793G>T (p.Gly265Cys)
| dbSNP ExAC gnomAD v4 |
15 | g.65077609G>A | CA153246 | KBTBD13 | c.794G>A (p.Gly265Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077609G>C | CA392863337 | KBTBD13 | c.794G>C (p.Gly265Ala)
| |
15 | g.65077609G= | CA2183440330 | KBTBD13 | c.794G= (p.Gly265=)
| |
15 | g.65077609G>T | CA392863340 | KBTBD13 | c.794G>T (p.Gly265Val)
| gnomAD v4 |
15 | g.65077610C>A | CA490899142 | KBTBD13 | c.795C>A (p.Gly265=)
| |
15 | g.65077610C= | CA2183440333 | KBTBD13 | c.795C= (p.Gly265=)
| |
15 | g.65077610C>G | CA490899145 | KBTBD13 | c.795C>G (p.Gly265=)
| |
15 | g.65077610C>T | CA7613985 | KBTBD13 | c.795C>T (p.Gly265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077611del | CA2628987451 | KBTBD13 | c.796del (p.Glu266AsnfsTer?)
| gnomAD v4 |
15 | g.65077611G>A | CA392863352 | KBTBD13 | c.796G>A (p.Glu266Lys)
| gnomAD v4 |
15 | g.65077611G>C | CA392863355 | KBTBD13 | c.796G>C (p.Glu266Gln)
| dbSNP gnomAD v2 |
15 | g.65077611G= | CA2183440337 | KBTBD13 | c.796G= (p.Glu266=)
| |
15 | g.65077611G>T | CA392863359 | KBTBD13 | c.796G>T (p.Glu266Ter)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077612A>C | CA392863365 | KBTBD13 | c.797A>C (p.Glu266Ala)
| |
15 | g.65077612A>G | CA392863374 | KBTBD13 | c.797A>G (p.Glu266Gly)
| |
15 | g.65077612A>T | CA392863368 | KBTBD13 | c.797A>T (p.Glu266Val)
| |
15 | g.65077612_65077613delinsTG | CA2697549138 | KBTBD13 | c.797_798delinsTG (p.Glu266Val)
| ClinVar |
15 | g.65077613A= | CA2183440343 | KBTBD13 | c.798A= (p.Glu266=)
| |
15 | g.65077613A>C | CA392863383 | KBTBD13 | c.798A>C (p.Glu266Asp)
| dbSNP gnomAD v4 |
15 | g.65077613A>G | CA153249 | KBTBD13 | c.798A>G (p.Glu266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077613A>T | CA392863392 | KBTBD13 | c.798A>T (p.Glu266Asp)
| dbSNP gnomAD v4 |
15 | g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG | CA970811072 | KBTBD13 | c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG (p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaIleGlyGlyGlu)
| gnomAD v3 gnomAD v4 |
15 | g.65077614T>A | CA392863398 | KBTBD13 | c.799T>A (p.Phe267Ile)
| |
15 | g.65077614T>C | CA392863403 | KBTBD13 | c.799T>C (p.Phe267Leu)
| |
15 | g.65077614T>G | CA392863406 | KBTBD13 | c.799T>G (p.Phe267Val)
| |