6 | g.49457687_49457692del | CA2695206678 | MMUT | c.753_753+5del
| |
6 | g.49457690C>A | CA364403552 | MMUT | c.753+1G>T (n.753+1G>T)
| gnomAD v4 |
6 | g.49457690C= | CA1627392054 | MMUT | c.753+1G= (n.753+1G=)
| |
6 | g.49457690C>G | CA364403554 | MMUT | c.753+1G>C (n.753+1G>C)
| |
6 | g.49457690C>T | CA138799322 | MMUT | c.753+1G>A (n.753+1G>A)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457690delinsTAATAACCA | CA2695206679 | MMUT | c.753+1delinsTGGTTATTA (n.753+1delinsTGGTTATTA)
| |
6 | g.49457691C>A | CA364403556 | MMUT | c.753G>T (p.Lys251Asn)
| |
6 | g.49457691C= | CA1627392055 | MMUT | c.753G= (p.Lys251=)
| |
6 | g.49457691C>G | CA234289 | MMUT | c.753G>C (p.Lys251Asn)
| ClinVar dbSNP |
6 | g.49457691C>T | CA450608731 | MMUT | c.753G>A (p.Lys251=)
| dbSNP gnomAD v2 |
6 | g.49457692T>A | CA364403562 | MMUT | c.752A>T (p.Lys251Met)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457692T>C | CA364403568 | MMUT | c.752A>G (p.Lys251Arg)
| |
6 | g.49457692T>G | CA364403571 | MMUT | c.752A>C (p.Lys251Thr)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457692T= | CA1627392056 | MMUT | c.752A= (p.Lys251=)
| |
6 | g.49457693T>A | CA364403575 | MMUT | c.751A>T (p.Lys251Ter)
| ClinVar dbSNP |
6 | g.49457693T>C | CA364403581 | MMUT | c.751A>G (p.Lys251Glu)
| dbSNP gnomAD v2 |
6 | g.49457693T>G | CA364403583 | MMUT | c.751A>C (p.Lys251Gln)
| |
6 | g.49457693T= | CA1627392057 | MMUT | c.751A= (p.Lys251=)
| |
6 | g.49457694T>A | CA450608732 | MMUT | c.750A>T (p.Ala250=)
| |
6 | g.49457694T>C | CA450608733 | MMUT | c.750A>G (p.Ala250=)
| |
6 | g.49457694T>G | CA450608734 | MMUT | c.750A>C (p.Ala250=)
| |
6 | g.49457695G>A | CA364403599 | MMUT | c.749C>T (p.Ala250Val)
| |
6 | g.49457695G>C | CA364403596 | MMUT | c.749C>G (p.Ala250Gly)
| |
6 | g.49457695G>T | CA364403587 | MMUT | c.749C>A (p.Ala250Glu)
| |
6 | g.49457696C>A | CA364403603 | MMUT | c.748G>T (p.Ala250Ser)
| |
6 | g.49457696C= | CA1627392058 | MMUT | c.748G= (p.Ala250=)
| |
6 | g.49457696C>G | CA364403604 | MMUT | c.748G>C (p.Ala250Pro)
| |
6 | g.49457696C>T | CA364403605 | MMUT | c.748G>A (p.Ala250Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457697T>A | CA450608735 | MMUT | c.747A>T (p.Thr249=)
| |
6 | g.49457697T>C | CA450608736 | MMUT | c.747A>G (p.Thr249=)
| gnomAD v4 |
6 | g.49457697T>G | CA450608737 | MMUT | c.747A>C (p.Thr249=)
| dbSNP |
6 | g.49457697T= | CA1627392059 | MMUT | c.747A= (p.Thr249=)
| |
6 | g.49457698G>A | CA3847057 | MMUT | c.746C>T (p.Thr249Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457698G>C | CA364403606 | MMUT | c.746C>G (p.Thr249Arg)
| |
6 | g.49457698G= | CA1627392060 | MMUT | c.746C= (p.Thr249=)
| |
6 | g.49457698G>T | CA364403607 | MMUT | c.746C>A (p.Thr249Lys)
| |
6 | g.49457699T>A | CA364403610 | MMUT | c.745A>T (p.Thr249Ser)
| |
6 | g.49457699T>C | CA364403619 | MMUT | c.745A>G (p.Thr249Ala)
| dbSNP |
6 | g.49457699T>G | CA364403617 | MMUT | c.745A>C (p.Thr249Pro)
| |
6 | g.49457700A= | CA1627392061 | MMUT | c.744T= (p.Tyr248=)
| |
6 | g.49457700A>C | CA364403622 | MMUT | c.744T>G (p.Tyr248Ter)
| |
6 | g.49457700A>G | CA3847058 | MMUT | c.744T>C (p.Tyr248=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49457700A>T | CA364403628 | MMUT | c.744T>A (p.Tyr248Ter)
| |
6 | g.49457701T>A | CA364403641 | MMUT | c.743A>T (p.Tyr248Phe)
| |
6 | g.49457701T>C | CA3847059 | MMUT | c.743A>G (p.Tyr248Cys)
| ClinVar dbSNP ExAC |
6 | g.49457701T>G | CA364403646 | MMUT | c.743A>C (p.Tyr248Ser)
| gnomAD v4 |
6 | g.49457701T= | CA1627392062 | MMUT | c.743A= (p.Tyr248=)
| |
6 | g.49457702A= | CA1627392063 | MMUT | c.742T= (p.Tyr248=)
| |
6 | g.49457702A>C | CA364403650 | MMUT | c.742T>G (p.Tyr248Asp)
| |
6 | g.49457702A>G | CA364403652 | MMUT | c.742T>C (p.Tyr248His)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457702A>T | CA364403658 | MMUT | c.742T>A (p.Tyr248Asn)
| |
6 | g.49457703T>A | CA364403663 | MMUT | c.741A>T (p.Glu247Asp)
| |
6 | g.49457703T>C | CA450608738 | MMUT | c.741A>G (p.Glu247=)
| |
6 | g.49457703T>G | CA364403666 | MMUT | c.741A>C (p.Glu247Asp)
| |
6 | g.49457704T>A | CA364403678 | MMUT | c.740A>T (p.Glu247Val)
| |
6 | g.49457704T>C | CA364403696 | MMUT | c.740A>G (p.Glu247Gly)
| |
6 | g.49457704T>G | CA364403684 | MMUT | c.740A>C (p.Glu247Ala)
| |
6 | g.49457705C>A | CA364403701 | MMUT | c.739G>T (p.Glu247Ter)
| gnomAD v4 |
6 | g.49457705C>G | CA364403702 | MMUT | c.739G>C (p.Glu247Gln)
| |
6 | g.49457705C>T | CA364403703 | MMUT | c.739G>A (p.Glu247Lys)
| |
6 | g.49457706A= | CA1627392064 | MMUT | c.738T= (p.Phe246=)
| |
6 | g.49457706A>C | CA364403704 | MMUT | c.738T>G (p.Phe246Leu)
| |
6 | g.49457706A>G | CA450608739 | MMUT | c.738T>C (p.Phe246=)
| |
6 | g.49457706A>T | CA3847060 | MMUT | c.738T>A (p.Phe246Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.49457707A>C | CA364403709 | MMUT | c.737T>G (p.Phe246Cys)
| |
6 | g.49457707A>G | CA364403712 | MMUT | c.737T>C (p.Phe246Ser)
| |
6 | g.49457707A>T | CA364403715 | MMUT | c.737T>A (p.Phe246Tyr)
| |
6 | g.49457707_49457709delinsAAT | CA1627392065 | MMUT | c.735_737delinsATT (p.Ile245=)
| |
6 | g.49457708A>C | CA364403718 | MMUT | c.736T>G (p.Phe246Val)
| |
6 | g.49457708A>G | CA364403722 | MMUT | c.736T>C (p.Phe246Leu)
| |
6 | g.49457708A>T | CA364403724 | MMUT | c.736T>A (p.Phe246Ile)
| |
6 | g.49457710_49457711del | CA3847061 | MMUT | c.735_736del (p.Phe246Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457709T>A | CA450608740 | MMUT | c.735A>T (p.Ile245=)
| |
6 | g.49457709T>C | CA3847062 | MMUT | c.735A>G (p.Ile245Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457709T>G | CA450608741 | MMUT | c.735A>C (p.Ile245=)
| dbSNP |
6 | g.49457709T= | CA1627392066 | MMUT | c.735A= (p.Ile245=)
| |
6 | g.49457710A= | CA1627392067 | MMUT | c.734T= (p.Ile245=)
| |
6 | g.49457710A>C | CA364403732 | MMUT | c.734T>G (p.Ile245Arg)
| |
6 | g.49457710A>G | CA364403739 | MMUT | c.734T>C (p.Ile245Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457710A>T | CA364403736 | MMUT | c.734T>A (p.Ile245Lys)
| |
6 | g.49457711T>A | CA364403742 | MMUT | c.733A>T (p.Ile245Leu)
| |
6 | g.49457711T>C | CA3847063 | MMUT | c.733A>G (p.Ile245Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457711T>G | CA364403753 | MMUT | c.733A>C (p.Ile245Leu)
| |
6 | g.49457711T= | CA1627392068 | MMUT | c.733A= (p.Ile245=)
| |
6 | g.49457712G>A | CA450608742 | MMUT | c.732C>T (p.Asp244=)
| |
6 | g.49457712G>C | CA364403757 | MMUT | c.732C>G (p.Asp244Glu)
| |
6 | g.49457712G>T | CA364403759 | MMUT | c.732C>A (p.Asp244Glu)
| |
6 | g.49457713T>A | CA364403763 | MMUT | c.731A>T (p.Asp244Val)
| |
6 | g.49457713T>C | CA364403765 | MMUT | c.731A>G (p.Asp244Gly)
| |
6 | g.49457713T>G | CA364403767 | MMUT | c.731A>C (p.Asp244Ala)
| |
6 | g.49457713_49457714insAA | CA450608743 | MMUT | c.730_731insTT (p.Asp244ValfsTer?)
| |
6 | g.49457714del | CA2770993502 | MMUT | c.730del (p.Asp244ThrfsTer?)
| |
6 | g.49457714C>A | CA364403769 | MMUT | c.730G>T (p.Asp244Tyr)
| |
6 | g.49457714C= | CA1627392069 | MMUT | c.730G= (p.Asp244=)
| |
6 | g.49457714C>G | CA3847065 | MMUT | c.730G>C (p.Asp244His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457714C>T | CA364403772 | MMUT | c.730G>A (p.Asp244Asn)
| |
6 | g.49457715A>C | CA450608746 | MMUT | c.729T>G (p.Ala243=)
| |
6 | g.49457715A>G | CA450608745 | MMUT | c.729T>C (p.Ala243=)
| |
6 | g.49457715A>T | CA450608744 | MMUT | c.729T>A (p.Ala243=)
| |
6 | g.49457715_49457716insAA | CA3847064 | MMUT | c.729_730insTT (p.Asp244LeufsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457716G>A | CA364403776 | MMUT | c.728C>T (p.Ala243Val)
| gnomAD v4 |
6 | g.49457716G>C | CA364403775 | MMUT | c.728C>G (p.Ala243Gly)
| |
6 | g.49457716G>T | CA364403777 | MMUT | c.728C>A (p.Ala243Asp)
| |
6 | g.49457717C>A | CA364403778 | MMUT | c.727G>T (p.Ala243Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457717C= | CA1627392070 | MMUT | c.727G= (p.Ala243=)
| |
6 | g.49457717C>G | CA364403779 | MMUT | c.727G>C (p.Ala243Pro)
| |
6 | g.49457717C>T | CA364403782 | MMUT | c.727G>A (p.Ala243Thr)
| |
6 | g.49457718A= | CA1627392071 | MMUT | c.726T= (p.Ile242=)
| |
6 | g.49457718A>C | CA364403785 | MMUT | c.726T>G (p.Ile242Met)
| |
6 | g.49457718A>G | CA3847066 | MMUT | c.726T>C (p.Ile242=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457718A>T | CA450608747 | MMUT | c.726T>A (p.Ile242=)
| |
6 | g.49457719del | CA2739273134 | MMUT | c.726del (p.Ile242MetfsTer?)
| ClinVar |
6 | g.49457719A>C | CA364403792 | MMUT | c.725T>G (p.Ile242Ser)
| |
6 | g.49457719A>G | CA364403793 | MMUT | c.725T>C (p.Ile242Thr)
| |
6 | g.49457719A>T | CA364403796 | MMUT | c.725T>A (p.Ile242Asn)
| |
6 | g.49457720T>A | CA364403801 | MMUT | c.724A>T (p.Ile242Phe)
| |
6 | g.49457720T>C | CA364403811 | MMUT | c.724A>G (p.Ile242Val)
| |
6 | g.49457720T>G | CA364403813 | MMUT | c.724A>C (p.Ile242Leu)
| |
6 | g.49457721A>C | CA364403815 | MMUT | c.723T>G (p.Ile241Met)
| |
6 | g.49457721A>G | CA450608748 | MMUT | c.723T>C (p.Ile241=)
| |
6 | g.49457721A>T | CA450608749 | MMUT | c.723T>A (p.Ile241=)
| |
6 | g.49457722A>C | CA364403825 | MMUT | c.722T>G (p.Ile241Ser)
| |
6 | g.49457722A>G | CA364403818 | MMUT | c.722T>C (p.Ile241Thr)
| |
6 | g.49457722A>T | CA364403822 | MMUT | c.722T>A (p.Ile241Asn)
| |
6 | g.49457723T>A | CA364403831 | MMUT | c.721A>T (p.Ile241Phe)
| |
6 | g.49457723T>C | CA3847067 | MMUT | c.721A>G (p.Ile241Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457723T>G | CA364403834 | MMUT | c.721A>C (p.Ile241Leu)
| |
6 | g.49457723T= | CA1627392072 | MMUT | c.721A= (p.Ile241=)
| |
6 | g.49457726dup | CA450608750 | MMUT | c.721dup (p.Ile241AsnfsTer4)
| |
6 | g.49457724T>A | CA364403838 | MMUT | c.720A>T (p.Lys240Asn)
| |
6 | g.49457724T>C | CA450608751 | MMUT | c.720A>G (p.Lys240=)
| |
6 | g.49457724T>G | CA364403844 | MMUT | c.720A>C (p.Lys240Asn)
| |
6 | g.49457725T>A | CA364403847 | MMUT | c.719A>T (p.Lys240Ile)
| gnomAD v4 |
6 | g.49457725T>C | CA364403850 | MMUT | c.719A>G (p.Lys240Arg)
| |
6 | g.49457725T>G | CA364403852 | MMUT | c.719A>C (p.Lys240Thr)
| |
6 | g.49457726T>A | CA364403855 | MMUT | c.718A>T (p.Lys240Ter)
| |
6 | g.49457726T>C | CA138799490 | MMUT | c.718A>G (p.Lys240Glu)
| dbSNP gnomAD v4 |
6 | g.49457726T>G | CA364403858 | MMUT | c.718A>C (p.Lys240Gln)
| |
6 | g.49457726T= | CA1627392073 | MMUT | c.718A= (p.Lys240=)
| |
6 | g.49457726_49457727insAA | CA2695206680 | MMUT | c.717_718insTT (p.Lys240LeufsTer?)
| |
6 | g.49457727C>A | CA364403884 | MMUT | c.717G>T (p.Met239Ile)
| |
6 | g.49457727C>G | CA364403880 | MMUT | c.717G>C (p.Met239Ile)
| |
6 | g.49457727C>T | CA364403868 | MMUT | c.717G>A (p.Met239Ile)
| |
6 | g.49457728A>C | CA364403896 | MMUT | c.716T>G (p.Met239Arg)
| |
6 | g.49457728A>G | CA364403904 | MMUT | c.716T>C (p.Met239Thr)
| |
6 | g.49457728A>T | CA364403906 | MMUT | c.716T>A (p.Met239Lys)
| |
6 | g.49457732_49457735del | CA2679046695 | MMUT | c.713_716del (p.Ser238Ter)
| gnomAD v4 |
6 | g.49457729T>A | CA364403910 | MMUT | c.715A>T (p.Met239Leu)
| |
6 | g.49457729T>C | CA138799498 | MMUT | c.715A>G (p.Met239Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457729T>G | CA364403911 | MMUT | c.715A>C (p.Met239Leu)
| |
6 | g.49457729T= | CA1627392074 | MMUT | c.715A= (p.Met239=)
| |
6 | g.49457730G>A | CA450608753 | MMUT | c.714C>T (p.Ser238=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.49457730G>C | CA450608754 | MMUT | c.714C>G (p.Ser238=)
| ClinVar dbSNP |
6 | g.49457730G= | CA1627392075 | MMUT | c.714C= (p.Ser238=)
| |
6 | g.49457730G>T | CA450608752 | MMUT | c.714C>A (p.Ser238=)
| |
6 | g.49457731G>A | CA364403913 | MMUT | c.713C>T (p.Ser238Phe)
| |
6 | g.49457731G>C | CA364403915 | MMUT | c.713C>G (p.Ser238Cys)
| |
6 | g.49457731G= | CA1627392076 | MMUT | c.713C= (p.Ser238=)
| |
6 | g.49457731G>T | CA364403917 | MMUT | c.713C>A (p.Ser238Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457732A= | CA1627392077 | MMUT | c.712T= (p.Ser238=)
| |
6 | g.49457732A>C | CA364403920 | MMUT | c.712T>G (p.Ser238Ala)
| |
6 | g.49457732A>G | CA138799507 | MMUT | c.712T>C (p.Ser238Pro)
| dbSNP |
6 | g.49457732A>T | CA364403923 | MMUT | c.712T>A (p.Ser238Thr)
| |
6 | g.49457733T>A | CA450608756 | MMUT | c.711A>T (p.Pro237=)
| |
6 | g.49457733T>C | CA312760 | MMUT | c.711A>G (p.Pro237=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457733T>G | CA450608755 | MMUT | c.711A>C (p.Pro237=)
| |
6 | g.49457733T= | CA1627392078 | MMUT | c.711A= (p.Pro237=)
| |
6 | g.49457734G>A | CA364403932 | MMUT | c.710C>T (p.Pro237Leu)
| |
6 | g.49457734G>C | CA364403927 | MMUT | c.710C>G (p.Pro237Arg)
| |
6 | g.49457734G>T | CA364403929 | MMUT | c.710C>A (p.Pro237Gln)
| gnomAD v4 |
6 | g.49457735G>A | CA364403934 | MMUT | c.709C>T (p.Pro237Ser)
| dbSNP |
6 | g.49457735G>C | CA364403935 | MMUT | c.709C>G (p.Pro237Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457735G= | CA1627392079 | MMUT | c.709C= (p.Pro237=)
| |
6 | g.49457735G>T | CA364403938 | MMUT | c.709C>A (p.Pro237Thr)
| |
6 | g.49457736T>A | CA364403940 | MMUT | c.708A>T (p.Glu236Asp)
| dbSNP |
6 | g.49457736T>C | CA450608757 | MMUT | c.708A>G (p.Glu236=)
| gnomAD v4 |
6 | g.49457736T>G | CA364403941 | MMUT | c.708A>C (p.Glu236Asp)
| dbSNP |
6 | g.49457736T= | CA1627392080 | MMUT | c.708A= (p.Glu236=)
| |
6 | g.49457737T>A | CA364403943 | MMUT | c.707A>T (p.Glu236Val)
| |
6 | g.49457737T>C | CA364403945 | MMUT | c.707A>G (p.Glu236Gly)
| |
6 | g.49457737T>G | CA364403950 | MMUT | c.707A>C (p.Glu236Ala)
| |
6 | g.49457738C>A | CA364403951 | MMUT | c.706G>T (p.Glu236Ter)
| ClinVar dbSNP |
6 | g.49457738C= | CA1627392081 | MMUT | c.706G= (p.Glu236=)
| |
6 | g.49457738C>G | CA364403953 | MMUT | c.706G>C (p.Glu236Gln)
| |
6 | g.49457738C>T | CA364403959 | MMUT | c.706G>A (p.Glu236Lys)
| gnomAD v4 |
6 | g.49457739T>A | CA450608758 | MMUT | c.705A>T (p.Pro235=)
| |
6 | g.49457739T>C | CA138799525 | MMUT | c.705A>G (p.Pro235=)
| dbSNP |
6 | g.49457739T>G | CA450608759 | MMUT | c.705A>C (p.Pro235=)
| |
6 | g.49457739T= | CA1627392082 | MMUT | c.705A= (p.Pro235=)
| |
6 | g.49457740G>A | CA364403965 | MMUT | c.704C>T (p.Pro235Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457740G>C | CA364403962 | MMUT | c.704C>G (p.Pro235Arg)
| |
6 | g.49457740G= | CA1627392083 | MMUT | c.704C= (p.Pro235=)
| |
6 | g.49457740G>T | CA364403960 | MMUT | c.704C>A (p.Pro235Gln)
| |
6 | g.49457741G>A | CA364403974 | MMUT | c.703C>T (p.Pro235Ser)
| dbSNP |
6 | g.49457741G>C | CA364403981 | MMUT | c.703C>G (p.Pro235Ala)
| gnomAD v4 |
6 | g.49457741G= | CA1627392084 | MMUT | c.703C= (p.Pro235=)
| |
6 | g.49457741G>T | CA364403983 | MMUT | c.703C>A (p.Pro235Thr)
| |
6 | g.49457742A>C | CA450608760 | MMUT | c.702T>G (p.Pro234=)
| |
6 | g.49457742A>G | CA450608762 | MMUT | c.702T>C (p.Pro234=)
| |
6 | g.49457742A>T | CA450608761 | MMUT | c.702T>A (p.Pro234=)
| |
6 | g.49457743G>A | CA364403985 | MMUT | c.701C>T (p.Pro234Leu)
| |
6 | g.49457743G>C | CA364403988 | MMUT | c.701C>G (p.Pro234Arg)
| |
6 | g.49457743G>T | CA364403990 | MMUT | c.701C>A (p.Pro234His)
| |
6 | g.49457744G>A | CA364404008 | MMUT | c.700C>T (p.Pro234Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.49457744G>C | CA364403995 | MMUT | c.700C>G (p.Pro234Ala)
| |
6 | g.49457744G= | CA1627392085 | MMUT | c.700C= (p.Pro234=)
| |
6 | g.49457744G>T | CA364403998 | MMUT | c.700C>A (p.Pro234Thr)
| |
6 | g.49457744_49457750delinsAAAAAAG | CA915944262 | MMUT | c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
| ClinVar dbSNP |
6 | g.49457744_49457750delinsGAAAAAT | CA1627392086 | MMUT | c.694_700delinsATTTTTC (p.Ile232=)
| |
6 | g.49457745A= | CA1627392087 | MMUT | c.699T= (p.Phe233=)
| |
6 | g.49457745A>C | CA364404013 | MMUT | c.699T>G (p.Phe233Leu)
| |
6 | g.49457745A>G | CA450608763 | MMUT | c.699T>C (p.Phe233=)
| dbSNP |
6 | g.49457745A>T | CA364404015 | MMUT | c.699T>A (p.Phe233Leu)
| |
6 | g.49457749dup | CA2578675207 | MMUT | c.699dup (p.Pro234SerfsTer11)
| |
6 | g.49457746A>C | CA364404017 | MMUT | c.698T>G (p.Phe233Cys)
| |
6 | g.49457746A>G | CA364404018 | MMUT | c.698T>C (p.Phe233Ser)
| |
6 | g.49457746A>T | CA364404027 | MMUT | c.698T>A (p.Phe233Tyr)
| |
6 | g.49457747A>C | CA364404031 | MMUT | c.697T>G (p.Phe233Val)
| |
6 | g.49457747A>G | CA364404029 | MMUT | c.697T>C (p.Phe233Leu)
| |
6 | g.49457747A>T | CA364404030 | MMUT | c.697T>A (p.Phe233Ile)
| |
6 | g.49457748A>C | CA364404032 | MMUT | c.696T>G (p.Ile232Met)
| |
6 | g.49457748A>G | CA450608764 | MMUT | c.696T>C (p.Ile232=)
| |
6 | g.49457748A>T | CA450608765 | MMUT | c.696T>A (p.Ile232=)
| |
6 | g.49457749A>C | CA364404034 | MMUT | c.695T>G (p.Ile232Ser)
| |
6 | g.49457749A>G | CA364404037 | MMUT | c.695T>C (p.Ile232Thr)
| gnomAD v4 |
6 | g.49457749A>T | CA364404044 | MMUT | c.695T>A (p.Ile232Asn)
| |
6 | g.49457750T>A | CA364404048 | MMUT | c.694A>T (p.Ile232Phe)
| ClinVar dbSNP |
6 | g.49457750T>C | CA364404049 | MMUT | c.694A>G (p.Ile232Val)
| dbSNP |
6 | g.49457750T>G | CA364404050 | MMUT | c.694A>C (p.Ile232Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457750T= | CA1627392088 | MMUT | c.694A= (p.Ile232=)
| |
6 | g.49457750dup | CA2695206681 | MMUT | c.694dup (p.Ile232AsnfsTer13)
| |
6 | g.49457751_49457752del | CA2695206682 | MMUT | c.693_694del (p.Ile232PhefsTer12)
| |
6 | g.49457751del | CA2695206683 | MMUT | c.693del (p.Tyr231Ter)
| |
6 | g.49457751G>A | CA450608766 | MMUT | c.693C>T (p.Tyr231=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457751G>C | CA10575877 | MMUT | c.693C>G (p.Tyr231Ter)
| ClinVar dbSNP |
6 | g.49457751G= | CA1627392089 | MMUT | c.693C= (p.Tyr231=)
| |
6 | g.49457751G>T | CA364404051 | MMUT | c.693C>A (p.Tyr231Ter)
| |
6 | g.49457752T>A | CA364404054 | MMUT | c.692A>T (p.Tyr231Phe)
| gnomAD v4 |
6 | g.49457752T>C | CA364404062 | MMUT | c.692A>G (p.Tyr231Cys)
| dbSNP |
6 | g.49457752T>G | CA364404065 | MMUT | c.692A>C (p.Tyr231Ser)
| dbSNP |
6 | g.49457752T= | CA1627392090 | MMUT | c.692A= (p.Tyr231=)
| |
6 | g.49457752dup | CA3847068 | MMUT | c.692dup (p.Tyr231Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457753A= | CA1627392091 | MMUT | c.691T= (p.Tyr231=)
| |
6 | g.49457753A>C | CA364404070 | MMUT | c.691T>G (p.Tyr231Asp)
| |
6 | g.49457753A>G | CA364404073 | MMUT | c.691T>C (p.Tyr231His)
| |
6 | g.49457753A>T | CA347881 | MMUT | c.691T>A (p.Tyr231Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457754T>A | CA450608767 | MMUT | c.690A>T (p.Thr230=)
| dbSNP |
6 | g.49457754T>C | CA450608768 | MMUT | c.690A>G (p.Thr230=)
| ClinVar gnomAD v4 COSMIC |
6 | g.49457754T>G | CA450608769 | MMUT | c.690A>C (p.Thr230=)
| |
6 | g.49457754T= | CA1627392092 | MMUT | c.690A= (p.Thr230=)
| |
6 | g.49457755_49457756del | CA2499218332 | MMUT | c.689_690del (p.Thr230IlefsTer14)
| ClinVar dbSNP |
6 | g.49457755G>A | CA364404076 | MMUT | c.689C>T (p.Thr230Ile)
| ClinVar dbSNP |
6 | g.49457755G>C | CA10575878 | MMUT | c.689C>G (p.Thr230Arg)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457755G= | CA1627392093 | MMUT | c.689C= (p.Thr230=)
| |
6 | g.49457755G>T | CA364404077 | MMUT | c.689C>A (p.Thr230Lys)
| COSMIC |
6 | g.49457756T>A | CA364404079 | MMUT | c.688A>T (p.Thr230Ser)
| |
6 | g.49457756T>C | CA364404082 | MMUT | c.688A>G (p.Thr230Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457756T>G | CA364404085 | MMUT | c.688A>C (p.Thr230Pro)
| |
6 | g.49457756T= | CA1627392094 | MMUT | c.688A= (p.Thr230=)
| |
6 | g.49457757A= | CA1627392095 | MMUT | c.687T= (p.Asn229=)
| |
6 | g.49457757A>C | CA364404089 | MMUT | c.687T>G (p.Asn229Lys)
| |
6 | g.49457757A>G | CA3847069 | MMUT | c.687T>C (p.Asn229=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457757A>T | CA364404104 | MMUT | c.687T>A (p.Asn229Lys)
| gnomAD v4 |
6 | g.49457758T>A | CA364404107 | MMUT | c.686A>T (p.Asn229Ile)
| |
6 | g.49457758T>C | CA364404110 | MMUT | c.686A>G (p.Asn229Ser)
| |
6 | g.49457758T>G | CA364404113 | MMUT | c.686A>C (p.Asn229Thr)
| |
6 | g.49457759T>A | CA364404116 | MMUT | c.685A>T (p.Asn229Tyr)
| |
6 | g.49457759T>C | CA364404114 | MMUT | c.685A>G (p.Asn229Asp)
| |
6 | g.49457759T>G | CA364404115 | MMUT | c.685A>C (p.Asn229His)
| |
6 | g.49457760T>A | CA450608770 | MMUT | c.684A>T (p.Arg228=)
| |
6 | g.49457760T>C | CA450608771 | MMUT | c.684A>G (p.Arg228=)
| |
6 | g.49457760T>G | CA450608772 | MMUT | c.684A>C (p.Arg228=)
| |
6 | g.49457761C>A | CA3847071 | MMUT | c.683G>T (p.Arg228Leu)
| dbSNP ExAC gnomAD v2 |
6 | g.49457761C= | CA1627392096 | MMUT | c.683G= (p.Arg228=)
| |
6 | g.49457761C>G | CA364404118 | MMUT | c.683G>C (p.Arg228Pro)
| |
6 | g.49457761C>T | CA3847070 | MMUT | c.683G>A (p.Arg228Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457762G>A | CA312778 | MMUT | c.682C>T (p.Arg228Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457762G>C | CA364404123 | MMUT | c.682C>G (p.Arg228Gly)
| |
6 | g.49457762G= | CA1627392097 | MMUT | c.682C= (p.Arg228=)
| |
6 | g.49457762G>T | CA450608773 | MMUT | c.682C>A (p.Arg228=)
| |
6 | g.49457763A= | CA1627392098 | MMUT | c.681T= (p.Val227=)
| |
6 | g.49457763A>C | CA450608774 | MMUT | c.681T>G (p.Val227=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457763A>G | CA450608776 | MMUT | c.681T>C (p.Val227=)
| |
6 | g.49457763A>T | CA450608775 | MMUT | c.681T>A (p.Val227=)
| |
6 | g.49457764A>C | CA364404127 | MMUT | c.680T>G (p.Val227Gly)
| |
6 | g.49457764A>G | CA364404129 | MMUT | c.680T>C (p.Val227Ala)
| |
6 | g.49457764A>T | CA364404131 | MMUT | c.680T>A (p.Val227Asp)
| |
6 | g.49457765C>A | CA364404135 | MMUT | c.679G>T (p.Val227Phe)
| |
6 | g.49457765C= | CA1627392099 | MMUT | c.679G= (p.Val227=)
| |
6 | g.49457765C>G | CA364404137 | MMUT | c.679G>C (p.Val227Leu)
| |
6 | g.49457765C>T | CA364404139 | MMUT | c.679G>A (p.Val227Ile)
| |
6 | g.49457766dup | CA913110644 | MMUT | c.679dup (p.Val227GlyfsTer18)
| |
6 | g.49457766C>A | CA3847073 | MMUT | c.678G>T (p.Met226Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457766C= | CA1627392100 | MMUT | c.678G= (p.Met226=)
| |
6 | g.49457766C>G | CA364404144 | MMUT | c.678G>C (p.Met226Ile)
| |
6 | g.49457766C>T | CA364404142 | MMUT | c.678G>A (p.Met226Ile)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457767_49457774dup | CA3847072 | MMUT | c.671_678dup (p.Val227AsnfsTer16)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457767A>C | CA364404148 | MMUT | c.677T>G (p.Met226Arg)
| |
6 | g.49457767A>G | CA364404150 | MMUT | c.677T>C (p.Met226Thr)
| |
6 | g.49457767A>T | CA364404153 | MMUT | c.677T>A (p.Met226Lys)
| |
6 | g.49457768T>A | CA364404156 | MMUT | c.676A>T (p.Met226Leu)
| dbSNP |
6 | g.49457768T>C | CA3847074 | MMUT | c.676A>G (p.Met226Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457768T>G | CA364404161 | MMUT | c.676A>C (p.Met226Leu)
| |
6 | g.49457768T= | CA1627392101 | MMUT | c.676A= (p.Met226=)
| |
6 | g.49457769A= | CA1627392102 | MMUT | c.675T= (p.Phe225=)
| |
6 | g.49457769A>C | CA364404164 | MMUT | c.675T>G (p.Phe225Leu)
| |
6 | g.49457769A>G | CA450608777 | MMUT | c.675T>C (p.Phe225=)
| |
6 | g.49457769A>T | CA364404167 | MMUT | c.675T>A (p.Phe225Leu)
| |
6 | g.49457771dup | CA913110645 | MMUT | c.675dup (p.Met226TyrfsTer19)
| |
6 | g.49457770A>C | CA364404170 | MMUT | c.674T>G (p.Phe225Cys)
| |
6 | g.49457770A>G | CA364404172 | MMUT | c.674T>C (p.Phe225Ser)
| |
6 | g.49457770A>T | CA364404175 | MMUT | c.674T>A (p.Phe225Tyr)
| |
6 | g.49457770_49457775dup | CA658823264 | MMUT | c.669_674dup (p.Glu224_Phe225insLeuGlu)
| ClinVar dbSNP |
6 | g.49457771A>C | CA364404176 | MMUT | c.673T>G (p.Phe225Val)
| |
6 | g.49457771A>G | CA364404177 | MMUT | c.673T>C (p.Phe225Leu)
| |
6 | g.49457771A>T | CA364404178 | MMUT | c.673T>A (p.Phe225Ile)
| |
6 | g.49457772T>A | CA364404181 | MMUT | c.672A>T (p.Glu224Asp)
| |
6 | g.49457772T>C | CA450608778 | MMUT | c.672A>G (p.Glu224=)
| |
6 | g.49457772T>G | CA364404180 | MMUT | c.672A>C (p.Glu224Asp)
| |
6 | g.49457773T>A | CA364404184 | MMUT | c.671A>T (p.Glu224Val)
| |
6 | g.49457773T>C | CA364404187 | MMUT | c.671A>G (p.Glu224Gly)
| |
6 | g.49457773T>G | CA364404201 | MMUT | c.671A>C (p.Glu224Ala)
| COSMIC |
6 | g.49457774C>A | CA364404204 | MMUT | c.670G>T (p.Glu224Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457774C= | CA1627392103 | MMUT | c.670G= (p.Glu224=)
| |
6 | g.49457774C>G | CA364404207 | MMUT | c.670G>C (p.Glu224Gln)
| |
6 | g.49457774C>T | CA364404209 | MMUT | c.670G>A (p.Glu224Lys)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457775C>A | CA364404216 | MMUT | c.669G>T (p.Lys223Asn)
| |
6 | g.49457775C>G | CA364404212 | MMUT | c.669G>C (p.Lys223Asn)
| |
6 | g.49457775C>T | CA450608779 | MMUT | c.669G>A (p.Lys223=)
| ClinVar gnomAD v4 |
6 | g.49457776T>A | CA364404219 | MMUT | c.668A>T (p.Lys223Met)
| |
6 | g.49457776T>C | CA364404220 | MMUT | c.668A>G (p.Lys223Arg)
| |
6 | g.49457776T>G | CA364404221 | MMUT | c.668A>C (p.Lys223Thr)
| |
6 | g.49457778del | CA2841020022 | MMUT | c.668del (p.Lys223ArgfsTer17)
| |
6 | g.49457777T>A | CA364404224 | MMUT | c.667A>T (p.Lys223Ter)
| |
6 | g.49457777T>C | CA364404226 | MMUT | c.667A>G (p.Lys223Glu)
| |
6 | g.49457777T>G | CA364404229 | MMUT | c.667A>C (p.Lys223Gln)
| |
6 | g.49457778T>A | CA450608782 | MMUT | c.666A>T (p.Leu222=)
| |
6 | g.49457778T>C | CA450608781 | MMUT | c.666A>G (p.Leu222=)
| |
6 | g.49457778T>G | CA450608780 | MMUT | c.666A>C (p.Leu222=)
| |
6 | g.49457779A>C | CA364404231 | MMUT | c.665T>G (p.Leu222Arg)
| |
6 | g.49457779A>G | CA364404235 | MMUT | c.665T>C (p.Leu222Pro)
| |
6 | g.49457779A>T | CA364404233 | MMUT | c.665T>A (p.Leu222Gln)
| |
6 | g.49457780G>A | CA450608783 | MMUT | c.664C>T (p.Leu222=)
| gnomAD v4 |
6 | g.49457780G>C | CA364404237 | MMUT | c.664C>G (p.Leu222Val)
| |
6 | g.49457780G>T | CA364404239 | MMUT | c.664C>A (p.Leu222Ile)
| |
6 | g.49457781T>A | CA450608784 | MMUT | c.663A>T (p.Ile221=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457781T>C | CA364404241 | MMUT | c.663A>G (p.Ile221Met)
| |
6 | g.49457781T>G | CA450608785 | MMUT | c.663A>C (p.Ile221=)
| |
6 | g.49457781T= | CA1627392104 | MMUT | c.663A= (p.Ile221=)
| |
6 | g.49457782del | CA2695206684 | MMUT | c.662del (p.Ile221AsnfsTer2)
| |
6 | g.49457782A= | CA1627392105 | MMUT | c.662T= (p.Ile221=)
| |
6 | g.49457782A>C | CA364404243 | MMUT | c.662T>G (p.Ile221Arg)
| |
6 | g.49457782A>G | CA364404246 | MMUT | c.662T>C (p.Ile221Thr)
| dbSNP gnomAD v4 |
6 | g.49457782A>T | CA364404247 | MMUT | c.662T>A (p.Ile221Lys)
| |
6 | g.49457783T>A | CA364404253 | MMUT | c.661A>T (p.Ile221Leu)
| |
6 | g.49457783T>C | CA364404250 | MMUT | c.661A>G (p.Ile221Val)
| |
6 | g.49457783T>G | CA364404252 | MMUT | c.661A>C (p.Ile221Leu)
| |
6 | g.49457784A= | CA1627392106 | MMUT | c.660T= (p.Asp220=)
| |
6 | g.49457784A>C | CA364404255 | MMUT | c.660T>G (p.Asp220Glu)
| |
6 | g.49457784A>G | CA450608786 | MMUT | c.660T>C (p.Asp220=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457784A>T | CA364404257 | MMUT | c.660T>A (p.Asp220Glu)
| |
6 | g.49457785T>A | CA364404259 | MMUT | c.659A>T (p.Asp220Val)
| |
6 | g.49457785T>C | CA364404261 | MMUT | c.659A>G (p.Asp220Gly)
| |
6 | g.49457785T>G | CA364404262 | MMUT | c.659A>C (p.Asp220Ala)
| |
6 | g.49457786C>A | CA364404263 | MMUT | c.658G>T (p.Asp220Tyr)
| gnomAD v4 |
6 | g.49457786C>G | CA364404265 | MMUT | c.658G>C (p.Asp220His)
| gnomAD v4 |
6 | g.49457786C>T | CA364404264 | MMUT | c.658G>A (p.Asp220Asn)
| |
6 | g.49457787A= | CA1627392107 | MMUT | c.657T= (p.Asn219=)
| |
6 | g.49457787A>C | CA364404266 | MMUT | c.657T>G (p.Asn219Lys)
| |
6 | g.49457787A>G | CA450608787 | MMUT | c.657T>C (p.Asn219=)
| |
6 | g.49457787A>T | CA364404267 | MMUT | c.657T>A (p.Asn219Lys)
| |
6 | g.49457788T>A | CA364404268 | MMUT | c.656A>T (p.Asn219Ile)
| |
6 | g.49457788T>C | CA138799604 | MMUT | c.656A>G (p.Asn219Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457788T>G | CA364404269 | MMUT | c.656A>C (p.Asn219Thr)
| |
6 | g.49457788T= | CA1627392108 | MMUT | c.656A= (p.Asn219=)
| |
6 | g.49457791dup | CA3847075 | MMUT | c.656dup (p.Asn219LysfsTer2)
| dbSNP ExAC gnomAD v2 |
6 | g.49457791del | CA2499218333 | MMUT | c.656del (p.Asn219MetfsTer4)
| ClinVar dbSNP |
6 | g.49457789T>A | CA249731 | MMUT | c.655A>T (p.Asn219Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457789T>C | CA364404270 | MMUT | c.655A>G (p.Asn219Asp)
| |
6 | g.49457789T>G | CA364404271 | MMUT | c.655A>C (p.Asn219His)
| |
6 | g.49457789T= | CA1627392109 | MMUT | c.655A= (p.Asn219=)
| |
6 | g.49457790T>A | CA364404272 | MMUT | c.654A>T (p.Gln218His)
| |
6 | g.49457790T>C | CA450608788 | MMUT | c.654A>G (p.Gln218=)
| |
6 | g.49457790T>G | CA364404273 | MMUT | c.654A>C (p.Gln218His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457790T= | CA1627395125 | MMUT | c.654A= (p.Gln218=)
| |