Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.6713930_6713987dup | CA2587878607 | C3 | c.650+19_650+76dup (n.650+19_650+76dup) c.773+19_773+76dup (n.773+19_773+76dup) n.277+19_277+76dup | gnomAD v4 |
19 | g.6713930_6713987del | CA2587878609 | C3 | c.650+19_650+76del (n.650+19_650+76del) c.773+19_773+76del (n.773+19_773+76del) n.277+19_277+76del | gnomAD v4 |
19 | g.6713962_6713996del | CA884132005 | C3 | c.650+10_650+44del c.773+10_773+44del n.277+10_277+44del | dbSNP gnomAD v4 |
19 | g.6713987C= | CA2320568363 | C3 | c.650+5G= (n.650+5G=) c.773+5G= (n.773+5G=) n.277+5G= | |
19 | g.6713987C>T | CA993078181 | C3 | c.650+5G>A (n.650+5G>A) c.773+5G>A (n.773+5G>A) n.277+5G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6713988T>C | CA645620277 | C3 | c.650+4A>G (n.650+4A>G) c.773+4A>G (n.773+4A>G) n.277+4A>G | COSMIC |
19 | g.6713988T>G | CA2576592433 | C3 | c.650+4A>C (n.650+4A>C) c.773+4A>C (n.773+4A>C) n.277+4A>C | |
19 | g.6713990A= | CA2320568364 | C3 | c.650+2T= (n.650+2T=) c.773+2T= (n.773+2T=) n.277+2T= | |
19 | g.6713990A>C | CA403642866 | C3 | c.650+2T>G (n.650+2T>G) c.773+2T>G (n.773+2T>G) n.277+2T>G | dbSNP |
19 | g.6713990A>G | CA403642868 | C3 | c.650+2T>C (n.650+2T>C) c.773+2T>C (n.773+2T>C) n.277+2T>C | |
19 | g.6713990A>T | CA403642870 | C3 | c.650+2T>A (n.650+2T>A) c.773+2T>A (n.773+2T>A) n.277+2T>A | |
19 | g.6713991C>A | CA403642872 | C3 | c.650+1G>T (n.650+1G>T) c.773+1G>T (n.773+1G>T) n.277+1G>T | |
19 | g.6713991C= | CA2320568365 | C3 | c.650+1G= (n.650+1G=) c.773+1G= (n.773+1G=) n.277+1G= | |
19 | g.6713991C>G | CA403642873 | C3 | c.650+1G>C (n.650+1G>C) c.773+1G>C (n.773+1G>C) n.277+1G>C | |
19 | g.6713991C>T | CA403642875 | C3 | c.650+1G>A (n.650+1G>A) c.773+1G>A (n.773+1G>A) n.277+1G>A | dbSNP gnomAD v4 |
19 | g.6713992C>A | CA403642876 | C3 | c.650G>T (p.Arg217Met) c.773G>T (p.Arg258Met) n.277G>T | |
19 | g.6713992C>G | CA403642877 | C3 | c.650G>C (p.Arg217Thr) c.773G>C (p.Arg258Thr) n.277G>C | |
19 | g.6713992C>T | CA403642879 | C3 | c.650G>A (p.Arg217Lys) c.773G>A (p.Arg258Lys) n.277G>A | |
19 | g.6713993T>A | CA403642881 | C3 | c.649A>T (p.Arg217Trp) c.772A>T (p.Arg258Trp) n.276A>T | gnomAD v4 |
19 | g.6713993T>C | CA304798458 | C3 | c.649A>G (p.Arg217Gly) c.772A>G (p.Arg258Gly) n.276A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6713993T>G | CA505124916 | C3 | c.649A>C (p.Arg217=) c.772A>C (p.Arg258=) n.276A>C | |
19 | g.6713993T= | CA2320568366 | C3 | c.649A= (p.Arg217=) c.772A= (p.Arg258=) n.276A= | |
19 | g.6713994G>A | CA9129693 | C3 | c.648C>T (p.Ala216=) c.771C>T (p.Ala257=) n.275C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6713994G>C | CA505124917 | C3 | c.648C>G (p.Ala216=) c.771C>G (p.Ala257=) n.275C>G | |
19 | g.6713994G= | CA2320568367 | C3 | c.648C= (p.Ala216=) c.771C= (p.Ala257=) n.275C= | |
19 | g.6713994G>T | CA505124918 | C3 | c.648C>A (p.Ala216=) c.771C>A (p.Ala257=) n.275C>A | gnomAD v4 |
19 | g.6713995del | CA2576592434 | C3 | c.648del (p.Arg217GlyfsTer?) c.771del (p.Arg258GlyfsTer?) n.275del | |
19 | g.6713995G>A | CA403642885 | C3 | c.647C>T (p.Ala216Val) c.770C>T (p.Ala257Val) n.274C>T | gnomAD v4 |
19 | g.6713995G>C | CA403642886 | C3 | c.647C>G (p.Ala216Gly) c.770C>G (p.Ala257Gly) n.274C>G | |
19 | g.6713995G>T | CA403642887 | C3 | c.647C>A (p.Ala216Asp) c.770C>A (p.Ala257Asp) n.274C>A | |
19 | g.6713996C>A | CA403642888 | C3 | c.646G>T (p.Ala216Ser) c.769G>T (p.Ala257Ser) n.273G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6713996C= | CA2320568368 | C3 | c.646G= (p.Ala216=) c.769G= (p.Ala257=) n.273G= | |
19 | g.6713996C>G | CA403642889 | C3 | c.646G>C (p.Ala216Pro) c.769G>C (p.Ala257Pro) n.273G>C | |
19 | g.6713996C>T | CA9129694 | C3 | c.646G>A (p.Ala216Thr) c.769G>A (p.Ala257Thr) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6713997G>A | CA9129695 | C3 | c.645C>T (p.Thr215=) c.768C>T (p.Thr256=) n.272C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6713997G>C | CA505124919 | C3 | c.645C>G (p.Thr215=) c.768C>G (p.Thr256=) n.272C>G | |
19 | g.6713997G= | CA2320568369 | C3 | c.645C= (p.Thr215=) c.768C= (p.Thr256=) n.272C= | |
19 | g.6713997G>T | CA505124920 | C3 | c.645C>A (p.Thr215=) c.768C>A (p.Thr256=) n.272C>A | |
19 | g.6713998G>A | CA403642890 | C3 | c.644C>T (p.Thr215Ile) c.767C>T (p.Thr256Ile) n.271C>T | |
19 | g.6713998G>C | CA403642891 | C3 | c.644C>G (p.Thr215Ser) c.767C>G (p.Thr256Ser) n.271C>G | |
19 | g.6713998G>T | CA403642892 | C3 | c.644C>A (p.Thr215Asn) c.767C>A (p.Thr256Asn) n.271C>A | |
19 | g.6713999T>A | CA403642893 | C3 | c.643A>T (p.Thr215Ser) c.766A>T (p.Thr256Ser) n.270A>T | |
19 | g.6713999T>C | CA403642894 | C3 | c.643A>G (p.Thr215Ala) c.766A>G (p.Thr256Ala) n.270A>G | |
19 | g.6713999T>G | CA403642895 | C3 | c.643A>C (p.Thr215Pro) c.766A>C (p.Thr256Pro) n.270A>C | |
19 | g.6714000G>A | CA505124921 | C3 | c.642C>T (p.Ile214=) c.765C>T (p.Ile255=) n.269C>T | COSMIC |
19 | g.6714000G>C | CA403642896 | C3 | c.642C>G (p.Ile214Met) c.765C>G (p.Ile255Met) n.269C>G | |
19 | g.6714000G>T | CA505124922 | C3 | c.642C>A (p.Ile214=) c.765C>A (p.Ile255=) n.269C>A | |
19 | g.6714001A>C | CA403642897 | C3 | c.641T>G (p.Ile214Ser) c.764T>G (p.Ile255Ser) n.268T>G | |
19 | g.6714001A>G | CA403642898 | C3 | c.641T>C (p.Ile214Thr) c.764T>C (p.Ile255Thr) n.268T>C | |
19 | g.6714001A>T | CA403642899 | C3 | c.641T>A (p.Ile214Asn) c.764T>A (p.Ile255Asn) n.268T>A | |
19 | g.6714002T>A | CA403642900 | C3 | c.640A>T (p.Ile214Phe) c.763A>T (p.Ile255Phe) n.267A>T | dbSNP |
19 | g.6714002T>C | CA9129696 | C3 | c.640A>G (p.Ile214Val) c.763A>G (p.Ile255Val) n.267A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714002T>G | CA403642901 | C3 | c.640A>C (p.Ile214Leu) c.763A>C (p.Ile255Leu) n.267A>C | |
19 | g.6714002T= | CA2320568370 | C3 | c.640A= (p.Ile214=) c.763A= (p.Ile255=) n.267A= | |
19 | g.6714003G>A | CA505124923 | C3 | c.639C>T (p.Thr213=) c.762C>T (p.Thr254=) n.266C>T | |
19 | g.6714003G>C | CA505124924 | C3 | c.639C>G (p.Thr213=) c.762C>G (p.Thr254=) n.266C>G | |
19 | g.6714003G>T | CA505124925 | C3 | c.639C>A (p.Thr213=) c.762C>A (p.Thr254=) n.266C>A | gnomAD v4 |
19 | g.6714004G>A | CA9129697 | C3 | c.638C>T (p.Thr213Ile) c.761C>T (p.Thr254Ile) n.265C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714004G>C | CA403642902 | C3 | c.638C>G (p.Thr213Ser) c.761C>G (p.Thr254Ser) n.265C>G | |
19 | g.6714004G= | CA2320568371 | C3 | c.638C= (p.Thr213=) c.761C= (p.Thr254=) n.265C= | |
19 | g.6714004G>T | CA403642903 | C3 | c.638C>A (p.Thr213Asn) c.761C>A (p.Thr254Asn) n.265C>A | gnomAD v4 |
19 | g.6714005T>A | CA403642904 | C3 | c.637A>T (p.Thr213Ser) c.760A>T (p.Thr254Ser) n.264A>T | |
19 | g.6714005T>C | CA403642905 | C3 | c.637A>G (p.Thr213Ala) c.760A>G (p.Thr254Ala) n.264A>G | |
19 | g.6714005T>G | CA403642906 | C3 | c.637A>C (p.Thr213Pro) c.760A>C (p.Thr254Pro) n.264A>C | |
19 | g.6714006G>A | CA505124926 | C3 | c.636C>T (p.Val212=) c.759C>T (p.Val253=) n.263C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714006G>C | CA505124927 | C3 | c.636C>G (p.Val212=) c.759C>G (p.Val253=) n.263C>G | |
19 | g.6714006G= | CA2320568372 | C3 | c.636C= (p.Val212=) c.759C= (p.Val253=) n.263C= | |
19 | g.6714006G>T | CA505124928 | C3 | c.636C>A (p.Val212=) c.759C>A (p.Val253=) n.263C>A | |
19 | g.6714007A= | CA2320568373 | C3 | c.635T= (p.Val212=) c.758T= (p.Val253=) n.262T= | |
19 | g.6714007A>C | CA403642908 | C3 | c.635T>G (p.Val212Gly) c.758T>G (p.Val253Gly) n.262T>G | |
19 | g.6714007A>G | CA9129698 | C3 | c.635T>C (p.Val212Ala) c.758T>C (p.Val253Ala) n.262T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714007A>T | CA403642907 | C3 | c.635T>A (p.Val212Asp) c.758T>A (p.Val253Asp) n.262T>A | |
19 | g.6714008C>A | CA403642909 | C3 | c.634G>T (p.Val212Phe) c.757G>T (p.Val253Phe) n.261G>T | |
19 | g.6714008C>G | CA403642911 | C3 | c.634G>C (p.Val212Leu) c.757G>C (p.Val253Leu) n.261G>C | |
19 | g.6714008C>T | CA403642910 | C3 | c.634G>A (p.Val212Ile) c.757G>A (p.Val253Ile) n.261G>A | gnomAD v4 |
19 | g.6714009C>A | CA403642912 | C3 | c.633G>T (p.Glu211Asp) c.756G>T (p.Glu252Asp) n.260G>T | |
19 | g.6714009C>G | CA403642913 | C3 | c.633G>C (p.Glu211Asp) c.756G>C (p.Glu252Asp) n.260G>C | |
19 | g.6714009C>T | CA505124929 | C3 | c.633G>A (p.Glu211=) c.756G>A (p.Glu252=) n.260G>A | |
19 | g.6714010T>A | CA403642914 | C3 | c.632A>T (p.Glu211Val) c.755A>T (p.Glu252Val) n.259A>T | |
19 | g.6714010T>C | CA403642915 | C3 | c.632A>G (p.Glu211Gly) c.755A>G (p.Glu252Gly) n.259A>G | |
19 | g.6714010T>G | CA403642916 | C3 | c.632A>C (p.Glu211Ala) c.755A>C (p.Glu252Ala) n.259A>C | |
19 | g.6714011C>A | CA9129699 | C3 | c.631G>T (p.Glu211Ter) c.754G>T (p.Glu252Ter) n.258G>T | dbSNP ExAC gnomAD v2 COSMIC |
19 | g.6714011C= | CA2320568374 | C3 | c.631G= (p.Glu211=) c.754G= (p.Glu252=) n.258G= | |
19 | g.6714011C>G | CA403642917 | C3 | c.631G>C (p.Glu211Gln) c.754G>C (p.Glu252Gln) n.258G>C | |
19 | g.6714011C>T | CA403642918 | C3 | c.631G>A (p.Glu211Lys) c.754G>A (p.Glu252Lys) n.258G>A | gnomAD v4 |
19 | g.6714012C>A | CA505124930 | C3 | c.630G>T (p.Leu210=) c.753G>T (p.Leu251=) n.257G>T | |
19 | g.6714012C>G | CA505124932 | C3 | c.630G>C (p.Leu210=) c.753G>C (p.Leu251=) n.257G>C | |
19 | g.6714012C>T | CA505124931 | C3 | c.630G>A (p.Leu210=) c.753G>A (p.Leu251=) n.257G>A | |
19 | g.6714013A>C | CA403642919 | C3 | c.629T>G (p.Leu210Arg) c.752T>G (p.Leu251Arg) n.256T>G | |
19 | g.6714013A>G | CA403642920 | C3 | c.629T>C (p.Leu210Pro) c.752T>C (p.Leu251Pro) n.256T>C | |
19 | g.6714013A>T | CA403642921 | C3 | c.629T>A (p.Leu210Gln) c.752T>A (p.Leu251Gln) n.256T>A | |
19 | g.6714014G>A | CA505124933 | C3 | c.628C>T (p.Leu210=) c.751C>T (p.Leu251=) n.255C>T | gnomAD v4 |
19 | g.6714014G>C | CA403642922 | C3 | c.628C>G (p.Leu210Val) c.751C>G (p.Leu251Val) n.255C>G | |
19 | g.6714014G>T | CA403642923 | C3 | c.628C>A (p.Leu210Met) c.751C>A (p.Leu251Met) n.255C>A | |
19 | g.6714015G>A | CA505124934 | C3 | c.627C>T (p.Gly209=) c.750C>T (p.Gly250=) n.254C>T | gnomAD v4 |
19 | g.6714015G>C | CA505124935 | C3 | c.627C>G (p.Gly209=) c.750C>G (p.Gly250=) n.254C>G | |
19 | g.6714015G>T | CA505124936 | C3 | c.627C>A (p.Gly209=) c.750C>A (p.Gly250=) n.254C>A | |
19 | g.6714016C>A | CA403642925 | C3 | c.626G>T (p.Gly209Val) c.749G>T (p.Gly250Val) n.253G>T | gnomAD v4 |
19 | g.6714016C= | CA2320568375 | C3 | c.626G= (p.Gly209=) c.749G= (p.Gly250=) n.253G= | |
19 | g.6714016C>G | CA9129700 | C3 | c.626G>C (p.Gly209Ala) c.749G>C (p.Gly250Ala) n.253G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714016C>T | CA403642924 | C3 | c.626G>A (p.Gly209Asp) c.749G>A (p.Gly250Asp) n.253G>A | |
19 | g.6714017C>A | CA403642926 | C3 | c.625G>T (p.Gly209Cys) c.748G>T (p.Gly250Cys) n.252G>T | |
19 | g.6714017C>G | CA403642927 | C3 | c.625G>C (p.Gly209Arg) c.748G>C (p.Gly250Arg) n.252G>C | |
19 | g.6714017C>T | CA403642928 | C3 | c.625G>A (p.Gly209Ser) c.748G>A (p.Gly250Ser) n.252G>A | |
19 | g.6714018C>A | CA403642929 | C3 | c.624G>T (p.Lys208Asn) c.747G>T (p.Lys249Asn) n.251G>T | |
19 | g.6714018C>G | CA403642930 | C3 | c.624G>C (p.Lys208Asn) c.747G>C (p.Lys249Asn) n.251G>C | |
19 | g.6714018C>T | CA505124937 | C3 | c.624G>A (p.Lys208=) c.747G>A (p.Lys249=) n.251G>A | |
19 | g.6714019T>A | CA403642931 | C3 | c.623A>T (p.Lys208Met) c.746A>T (p.Lys249Met) n.250A>T | |
19 | g.6714019T>C | CA403642932 | C3 | c.623A>G (p.Lys208Arg) c.746A>G (p.Lys249Arg) n.250A>G | ClinVar dbSNP |
19 | g.6714019T>G | CA403642933 | C3 | c.623A>C (p.Lys208Thr) c.746A>C (p.Lys249Thr) n.250A>C | |
19 | g.6714019T= | CA2320568376 | C3 | c.623A= (p.Lys208=) c.746A= (p.Lys249=) n.250A= | |
19 | g.6714020T>A | CA403642934 | C3 | c.622A>T (p.Lys208Ter) c.745A>T (p.Lys249Ter) n.249A>T | |
19 | g.6714020T>C | CA403642935 | C3 | c.622A>G (p.Lys208Glu) c.745A>G (p.Lys249Glu) n.249A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714020T>G | CA403642936 | C3 | c.622A>C (p.Lys208Gln) c.745A>C (p.Lys249Gln) n.249A>C | |
19 | g.6714020T= | CA2320568377 | C3 | c.622A= (p.Lys208=) c.745A= (p.Lys249=) n.249A= | |
19 | g.6714021C>A | CA403642937 | C3 | c.621G>T (p.Glu207Asp) c.744G>T (p.Glu248Asp) n.248G>T | |
19 | g.6714021C= | CA2320568378 | C3 | c.621G= (p.Glu207=) c.744G= (p.Glu248=) n.248G= | |
19 | g.6714021C>G | CA403642938 | C3 | c.621G>C (p.Glu207Asp) c.744G>C (p.Glu248Asp) n.248G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714021C>T | CA505124938 | C3 | c.621G>A (p.Glu207=) c.744G>A (p.Glu248=) n.248G>A | |
19 | g.6714022T>A | CA403642940 | C3 | c.620A>T (p.Glu207Val) c.743A>T (p.Glu248Val) n.247A>T | |
19 | g.6714022T>C | CA403642941 | C3 | c.620A>G (p.Glu207Gly) c.743A>G (p.Glu248Gly) n.247A>G | |
19 | g.6714022T>G | CA403642939 | C3 | c.620A>C (p.Glu207Ala) c.743A>C (p.Glu248Ala) n.247A>C | |
19 | g.6714023C>A | CA403642942 | C3 | c.619G>T (p.Glu207Ter) c.742G>T (p.Glu248Ter) n.246G>T | |
19 | g.6714023C= | CA2320568379 | C3 | c.619G= (p.Glu207=) c.742G= (p.Glu248=) n.246G= | |
19 | g.6714023C>G | CA403642943 | C3 | c.619G>C (p.Glu207Gln) c.742G>C (p.Glu248Gln) n.246G>C | |
19 | g.6714023C>T | CA9129701 | C3 | c.619G>A (p.Glu207Lys) c.742G>A (p.Glu248Lys) n.246G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714024G>A | CA9129702 | C3 | c.618C>T (p.Asn206=) c.741C>T (p.Asn247=) n.245C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714024G>C | CA403642944 | C3 | c.618C>G (p.Asn206Lys) c.741C>G (p.Asn247Lys) n.245C>G | |
19 | g.6714024G= | CA2320568380 | C3 | c.618C= (p.Asn206=) c.741C= (p.Asn247=) n.245C= | |
19 | g.6714024G>T | CA403642945 | C3 | c.618C>A (p.Asn206Lys) c.741C>A (p.Asn247Lys) n.245C>A | |
19 | g.6714025T>A | CA403642946 | C3 | c.617A>T (p.Asn206Ile) c.740A>T (p.Asn247Ile) n.244A>T | |
19 | g.6714025T>C | CA403642947 | C3 | c.617A>G (p.Asn206Ser) c.740A>G (p.Asn247Ser) n.244A>G | |
19 | g.6714025T>G | CA403642948 | C3 | c.617A>C (p.Asn206Thr) c.740A>C (p.Asn247Thr) n.244A>C | gnomAD v4 |
19 | g.6714026T>A | CA403642949 | C3 | c.616A>T (p.Asn206Tyr) c.739A>T (p.Asn247Tyr) n.243A>T | |
19 | g.6714026T>C | CA403642950 | C3 | c.616A>G (p.Asn206Asp) c.739A>G (p.Asn247Asp) n.243A>G | |
19 | g.6714026T>G | CA403642951 | C3 | c.616A>C (p.Asn206His) c.739A>C (p.Asn247His) n.243A>C | |
19 | g.6714027A>C | CA403642953 | C3 | c.615T>G (p.Tyr205Ter) c.738T>G (p.Tyr246Ter) n.242T>G | gnomAD v4 |
19 | g.6714027A>G | CA505124939 | C3 | c.615T>C (p.Tyr205=) c.738T>C (p.Tyr246=) n.242T>C | |
19 | g.6714027A>T | CA403642952 | C3 | c.615T>A (p.Tyr205Ter) c.738T>A (p.Tyr246Ter) n.242T>A | |
19 | g.6714028T>A | CA9129703 | C3 | c.614A>T (p.Tyr205Phe) c.737A>T (p.Tyr246Phe) n.241A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714028T>C | CA9129704 | C3 | c.614A>G (p.Tyr205Cys) c.737A>G (p.Tyr246Cys) n.241A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714028T>G | CA403642954 | C3 | c.614A>C (p.Tyr205Ser) c.737A>C (p.Tyr246Ser) n.241A>C | |
19 | g.6714028T= | CA2320568381 | C3 | c.614A= (p.Tyr205=) c.737A= (p.Tyr246=) n.241A= | |
19 | g.6714029A>C | CA403642955 | C3 | c.613T>G (p.Tyr205Asp) c.736T>G (p.Tyr246Asp) n.240T>G | |
19 | g.6714029A>G | CA403642956 | C3 | c.613T>C (p.Tyr205His) c.736T>C (p.Tyr246His) n.240T>C | gnomAD v4 |
19 | g.6714029A>T | CA403642957 | C3 | c.613T>A (p.Tyr205Asn) c.736T>A (p.Tyr246Asn) n.240T>A | |
19 | g.6714030G>A | CA505124940 | C3 | c.612C>T (p.Ile204=) c.735C>T (p.Ile245=) n.239C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714030G>C | CA403642958 | C3 | c.612C>G (p.Ile204Met) c.735C>G (p.Ile245Met) n.239C>G | ClinVar dbSNP gnomAD v4 |
19 | g.6714030G= | CA2320568382 | C3 | c.612C= (p.Ile204=) c.735C= (p.Ile245=) n.239C= | |
19 | g.6714030G>T | CA505124941 | C3 | c.612C>A (p.Ile204=) c.735C>A (p.Ile245=) n.239C>A | gnomAD v4 |
19 | g.6714031A>C | CA403642959 | C3 | c.611T>G (p.Ile204Ser) c.734T>G (p.Ile245Ser) n.238T>G | |
19 | g.6714031A>G | CA403642960 | C3 | c.611T>C (p.Ile204Thr) c.734T>C (p.Ile245Thr) n.238T>C | |
19 | g.6714031A>T | CA403642961 | C3 | c.611T>A (p.Ile204Asn) c.734T>A (p.Ile245Asn) n.238T>A | |
19 | g.6714032T>A | CA403642962 | C3 | c.610A>T (p.Ile204Phe) c.733A>T (p.Ile245Phe) n.237A>T | |
19 | g.6714032T>C | CA403642963 | C3 | c.610A>G (p.Ile204Val) c.733A>G (p.Ile245Val) n.237A>G | gnomAD v4 |
19 | g.6714032T>G | CA403642964 | C3 | c.610A>C (p.Ile204Leu) c.733A>C (p.Ile245Leu) n.237A>C | |
19 | g.6714033G>A | CA505124942 | C3 | c.609C>T (p.Tyr203=) c.732C>T (p.Tyr244=) n.236C>T | gnomAD v4 |
19 | g.6714033G>C | CA403642965 | C3 | c.609C>G (p.Tyr203Ter) c.732C>G (p.Tyr244Ter) n.236C>G | |
19 | g.6714033G= | CA2320568383 | C3 | c.609C= (p.Tyr203=) c.732C= (p.Tyr244=) n.236C= | |
19 | g.6714033G>T | CA403642966 | C3 | c.609C>A (p.Tyr203Ter) c.732C>A (p.Tyr244Ter) n.236C>A | ClinVar dbSNP |
19 | g.6714037_6714039del | CA645620278 | C3 | c.607_609del (p.Tyr203del) c.730_732del (p.Tyr244del) n.234_236del | gnomAD v4 COSMIC |
19 | g.6714034T>A | CA403642967 | C3 | c.608A>T (p.Tyr203Phe) c.731A>T (p.Tyr244Phe) n.235A>T | |
19 | g.6714034T>C | CA403642969 | C3 | c.608A>G (p.Tyr203Cys) c.731A>G (p.Tyr244Cys) n.235A>G | COSMIC |
19 | g.6714034T>G | CA403642968 | C3 | c.608A>C (p.Tyr203Ser) c.731A>C (p.Tyr244Ser) n.235A>C | |
19 | g.6714035A>C | CA403642970 | C3 | c.607T>G (p.Tyr203Asp) c.730T>G (p.Tyr244Asp) n.234T>G | |
19 | g.6714035A>G | CA403642971 | C3 | c.607T>C (p.Tyr203His) c.730T>C (p.Tyr244His) n.234T>C | |
19 | g.6714035A>T | CA403642972 | C3 | c.607T>A (p.Tyr203Asn) c.730T>A (p.Tyr244Asn) n.234T>A | |
19 | g.6714036G>A | CA505124943 | C3 | c.606C>T (p.Tyr202=) c.729C>T (p.Tyr243=) n.233C>T | |
19 | g.6714036G>C | CA403642973 | C3 | c.606C>G (p.Tyr202Ter) c.729C>G (p.Tyr243Ter) n.233C>G | |
19 | g.6714036G>T | CA403642974 | C3 | c.606C>A (p.Tyr202Ter) c.729C>A (p.Tyr243Ter) n.233C>A | |
19 | g.6714037T>A | CA403642975 | C3 | c.605A>T (p.Tyr202Phe) c.728A>T (p.Tyr243Phe) n.232A>T | COSMIC |
19 | g.6714037T>C | CA403642976 | C3 | c.605A>G (p.Tyr202Cys) c.728A>G (p.Tyr243Cys) n.232A>G | gnomAD v4 |
19 | g.6714037T>G | CA403642977 | C3 | c.605A>C (p.Tyr202Ser) c.728A>C (p.Tyr243Ser) n.232A>C | |
19 | g.6714038A>C | CA403642978 | C3 | c.604T>G (p.Tyr202Asp) c.727T>G (p.Tyr243Asp) n.231T>G | |
19 | g.6714038A>G | CA403642979 | C3 | c.604T>C (p.Tyr202His) c.727T>C (p.Tyr243His) n.231T>C | gnomAD v4 |
19 | g.6714038A>T | CA403642980 | C3 | c.604T>A (p.Tyr202Asn) c.727T>A (p.Tyr243Asn) n.231T>A | |
19 | g.6714039G>A | CA505124944 | C3 | c.603C>T (p.Phe201=) c.726C>T (p.Phe242=) n.230C>T | COSMIC |
19 | g.6714039G>C | CA403642981 | C3 | c.603C>G (p.Phe201Leu) c.726C>G (p.Phe242Leu) n.230C>G | |
19 | g.6714039G>T | CA403642982 | C3 | c.603C>A (p.Phe201Leu) c.726C>A (p.Phe242Leu) n.230C>A | |
19 | g.6714040A>C | CA403642983 | C3 | c.602T>G (p.Phe201Cys) c.725T>G (p.Phe242Cys) n.229T>G | |
19 | g.6714040A>G | CA403642985 | C3 | c.602T>C (p.Phe201Ser) c.725T>C (p.Phe242Ser) n.229T>C | |
19 | g.6714040A>T | CA403642984 | C3 | c.602T>A (p.Phe201Tyr) c.725T>A (p.Phe242Tyr) n.229T>A | |
19 | g.6714041A>C | CA403642986 | C3 | c.601T>G (p.Phe201Val) c.724T>G (p.Phe242Val) n.228T>G | |
19 | g.6714041A>G | CA403642987 | C3 | c.601T>C (p.Phe201Leu) c.724T>C (p.Phe242Leu) n.228T>C | |
19 | g.6714041A>T | CA403642988 | C3 | c.601T>A (p.Phe201Ile) c.724T>A (p.Phe242Ile) n.228T>A | |
19 | g.6714042T>A | CA403642989 | C3 | c.600A>T (p.Lys200Asn) c.723A>T (p.Lys241Asn) n.227A>T | |
19 | g.6714042T>C | CA505124945 | C3 | c.600A>G (p.Lys200=) c.723A>G (p.Lys241=) n.227A>G | |
19 | g.6714042T>G | CA403642990 | C3 | c.600A>C (p.Lys200Asn) c.723A>C (p.Lys241Asn) n.227A>C | |
19 | g.6714043T>A | CA403642991 | C3 | c.599A>T (p.Lys200Ile) c.722A>T (p.Lys241Ile) n.226A>T | |
19 | g.6714043T>C | CA403642992 | C3 | c.599A>G (p.Lys200Arg) c.722A>G (p.Lys241Arg) n.226A>G | |
19 | g.6714043T>G | CA403642993 | C3 | c.599A>C (p.Lys200Thr) c.722A>C (p.Lys241Thr) n.226A>C | |
19 | g.6714044T>A | CA403642994 | C3 | c.598A>T (p.Lys200Ter) c.721A>T (p.Lys241Ter) n.225A>T | |
19 | g.6714044T>C | CA403642995 | C3 | c.598A>G (p.Lys200Glu) c.721A>G (p.Lys241Glu) n.225A>G | |
19 | g.6714044T>G | CA403642996 | C3 | c.598A>C (p.Lys200Gln) c.721A>C (p.Lys241Gln) n.225A>C | |
19 | g.6714045C>A | CA403642997 | C3 | c.597G>T (p.Glu199Asp) c.720G>T (p.Glu240Asp) n.224G>T | |
19 | g.6714045C>G | CA403642998 | C3 | c.597G>C (p.Glu199Asp) c.720G>C (p.Glu240Asp) n.224G>C | |
19 | g.6714045C>T | CA505124946 | C3 | c.597G>A (p.Glu199=) c.720G>A (p.Glu240=) n.224G>A | |
19 | g.6714046T>A | CA403642999 | C3 | c.596A>T (p.Glu199Val) c.719A>T (p.Glu240Val) n.223A>T | |
19 | g.6714046T>C | CA403643000 | C3 | c.596A>G (p.Glu199Gly) c.719A>G (p.Glu240Gly) n.223A>G | |
19 | g.6714046T>G | CA403643001 | C3 | c.596A>C (p.Glu199Ala) c.719A>C (p.Glu240Ala) n.223A>C | |
19 | g.6714047C>A | CA403643002 | C3 | c.595G>T (p.Glu199Ter) c.718G>T (p.Glu240Ter) n.222G>T | |
19 | g.6714047C>G | CA403643003 | C3 | c.595G>C (p.Glu199Gln) c.718G>C (p.Glu240Gln) n.222G>C | dbSNP |
19 | g.6714047C>T | CA403643004 | C3 | c.595G>A (p.Glu199Lys) c.718G>A (p.Glu240Lys) n.222G>A | gnomAD v4 |
19 | g.6714048T>A | CA505124947 | C3 | c.594A>T (p.Thr198=) c.717A>T (p.Thr239=) n.221A>T | |
19 | g.6714048T>C | CA505124948 | C3 | c.594A>G (p.Thr198=) c.717A>G (p.Thr239=) n.221A>G | |
19 | g.6714048T>G | CA505124949 | C3 | c.594A>C (p.Thr198=) c.717A>C (p.Thr239=) n.221A>C | |
19 | g.6714049G>A | CA403643005 | C3 | c.593C>T (p.Thr198Ile) c.716C>T (p.Thr239Ile) n.220C>T | |
19 | g.6714049G>C | CA403643006 | C3 | c.593C>G (p.Thr198Arg) c.716C>G (p.Thr239Arg) n.220C>G | |
19 | g.6714049G>T | CA403643007 | C3 | c.593C>A (p.Thr198Lys) c.716C>A (p.Thr239Lys) n.220C>A | |
19 | g.6714050T>A | CA403643008 | C3 | c.592A>T (p.Thr198Ser) c.715A>T (p.Thr239Ser) n.219A>T | |
19 | g.6714050T>C | CA403643009 | C3 | c.592A>G (p.Thr198Ala) c.715A>G (p.Thr239Ala) n.219A>G | |
19 | g.6714050T>G | CA403643010 | C3 | c.592A>C (p.Thr198Pro) c.715A>C (p.Thr239Pro) n.219A>C | |
19 | g.6714051A>C | CA505124950 | C3 | c.591T>G (p.Pro197=) c.714T>G (p.Pro238=) n.218T>G | |
19 | g.6714051A>G | CA505124952 | C3 | c.591T>C (p.Pro197=) c.714T>C (p.Pro238=) n.218T>C | |
19 | g.6714051A>T | CA505124951 | C3 | c.591T>A (p.Pro197=) c.714T>A (p.Pro238=) n.218T>A | |
19 | g.6714052G>A | CA403643013 | C3 | c.590C>T (p.Pro197Leu) c.713C>T (p.Pro238Leu) n.217C>T | |
19 | g.6714052G>C | CA403643012 | C3 | c.590C>G (p.Pro197Arg) c.713C>G (p.Pro238Arg) n.217C>G | |
19 | g.6714052G>T | CA403643011 | C3 | c.590C>A (p.Pro197His) c.713C>A (p.Pro238His) n.217C>A | |
19 | g.6714053G>A | CA403643014 | C3 | c.589C>T (p.Pro197Ser) c.712C>T (p.Pro238Ser) n.216C>T | |
19 | g.6714053G>C | CA304798523 | C3 | c.589C>G (p.Pro197Ala) c.712C>G (p.Pro238Ala) n.216C>G | ClinVar dbSNP gnomAD v4 |
19 | g.6714053G= | CA2320568384 | C3 | c.589C= (p.Pro197=) c.712C= (p.Pro238=) n.216C= | |
19 | g.6714053G>T | CA403643015 | C3 | c.589C>A (p.Pro197Thr) c.712C>A (p.Pro238Thr) n.216C>A | |
19 | g.6714054C>A | CA403643016 | C3 | c.588G>T (p.Glu196Asp) c.711G>T (p.Glu237Asp) n.215G>T | |
19 | g.6714054C= | CA2320568385 | C3 | c.588G= (p.Glu196=) c.711G= (p.Glu237=) n.215G= | |
19 | g.6714054C>G | CA403643017 | C3 | c.588G>C (p.Glu196Asp) c.711G>C (p.Glu237Asp) n.215G>C | |
19 | g.6714054C>T | CA9129705 | C3 | c.588G>A (p.Glu196=) c.711G>A (p.Glu237=) n.215G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714055T>A | CA403643018 | C3 | c.587A>T (p.Glu196Val) c.710A>T (p.Glu237Val) n.214A>T | |
19 | g.6714055T>C | CA403643019 | C3 | c.587A>G (p.Glu196Gly) c.710A>G (p.Glu237Gly) n.214A>G | |
19 | g.6714055T>G | CA403643020 | C3 | c.587A>C (p.Glu196Ala) c.710A>C (p.Glu237Ala) n.214A>C | |
19 | g.6714056C>A | CA403643021 | C3 | c.586G>T (p.Glu196Ter) c.709G>T (p.Glu237Ter) n.213G>T | |
19 | g.6714056C>G | CA403643022 | C3 | c.586G>C (p.Glu196Gln) c.709G>C (p.Glu237Gln) n.213G>C | |
19 | g.6714056C>T | CA403643023 | C3 | c.586G>A (p.Glu196Lys) c.709G>A (p.Glu237Lys) n.213G>A | COSMIC |
19 | g.6714057C>A | CA505124953 | C3 | c.585G>T (p.Val195=) c.708G>T (p.Val236=) n.212G>T | |
19 | g.6714057C>G | CA505124954 | C3 | c.585G>C (p.Val195=) c.708G>C (p.Val236=) n.212G>C | |
19 | g.6714057C>T | CA505124955 | C3 | c.585G>A (p.Val195=) c.708G>A (p.Val236=) n.212G>A | |
19 | g.6714058A>C | CA403643026 | C3 | c.584T>G (p.Val195Gly) c.707T>G (p.Val236Gly) n.211T>G | |
19 | g.6714058A>G | CA403643025 | C3 | c.584T>C (p.Val195Ala) c.707T>C (p.Val236Ala) n.211T>C | |
19 | g.6714058A>T | CA403643024 | C3 | c.584T>A (p.Val195Glu) c.707T>A (p.Val236Glu) n.211T>A | |
19 | g.6714059C>A | CA403643027 | C3 | c.583G>T (p.Val195Leu) c.706G>T (p.Val236Leu) n.210G>T | |
19 | g.6714059C>G | CA403643029 | C3 | c.583G>C (p.Val195Leu) c.706G>C (p.Val236Leu) n.210G>C | |
19 | g.6714059C>T | CA403643028 | C3 | c.583G>A (p.Val195Met) c.706G>A (p.Val236Met) n.210G>A | |
19 | g.6714060T>A | CA505124957 | C3 | c.582A>T (p.Ile194=) c.705A>T (p.Ile235=) n.209A>T | |
19 | g.6714060T>C | CA403643030 | C3 | c.582A>G (p.Ile194Met) c.705A>G (p.Ile235Met) n.209A>G | gnomAD v4 |
19 | g.6714060T>G | CA505124956 | C3 | c.582A>C (p.Ile194=) c.705A>C (p.Ile235=) n.209A>C | |
19 | g.6714061A= | CA2320568386 | C3 | c.581T= (p.Ile194=) c.704T= (p.Ile235=) n.208T= | |
19 | g.6714061A>C | CA403643032 | C3 | c.581T>G (p.Ile194Arg) c.704T>G (p.Ile235Arg) n.208T>G | |
19 | g.6714061A>G | CA403643031 | C3 | c.581T>C (p.Ile194Thr) c.704T>C (p.Ile235Thr) n.208T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714061A>T | CA403643033 | C3 | c.581T>A (p.Ile194Lys) c.704T>A (p.Ile235Lys) n.208T>A | |
19 | g.6714062T>A | CA403643034 | C3 | c.580A>T (p.Ile194Leu) c.703A>T (p.Ile235Leu) n.207A>T | |
19 | g.6714062T>C | CA403643035 | C3 | c.580A>G (p.Ile194Val) c.703A>G (p.Ile235Val) n.207A>G | |
19 | g.6714062T>G | CA403643036 | C3 | c.580A>C (p.Ile194Leu) c.703A>C (p.Ile235Leu) n.207A>C | |
19 | g.6714063G>A | CA505124958 | C3 | c.579C>T (p.Val193=) c.702C>T (p.Val234=) n.206C>T | |
19 | g.6714063G>C | CA505124959 | C3 | c.579C>G (p.Val193=) c.702C>G (p.Val234=) n.206C>G | |
19 | g.6714063G>T | CA505124960 | C3 | c.579C>A (p.Val193=) c.702C>A (p.Val234=) n.206C>A | |
19 | g.6714064A>C | CA403643037 | C3 | c.578T>G (p.Val193Gly) c.701T>G (p.Val234Gly) n.205T>G | |
19 | g.6714064A>G | CA403643038 | C3 | c.578T>C (p.Val193Ala) c.701T>C (p.Val234Ala) n.205T>C | |
19 | g.6714064A>T | CA403643039 | C3 | c.578T>A (p.Val193Asp) c.701T>A (p.Val234Asp) n.205T>A | |
19 | g.6714065C>A | CA403643040 | C3 | c.577G>T (p.Val193Phe) c.700G>T (p.Val234Phe) n.204G>T | |
19 | g.6714065C= | CA2320568387 | C3 | c.577G= (p.Val193=) c.700G= (p.Val234=) n.204G= | |
19 | g.6714065C>G | CA403643041 | C3 | c.577G>C (p.Val193Leu) c.700G>C (p.Val234Leu) n.204G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714065C>T | CA403643042 | C3 | c.577G>A (p.Val193Ile) c.700G>A (p.Val234Ile) n.204G>A | dbSNP gnomAD v4 |
19 | g.6714066C>A | CA403643043 | C3 | c.576G>T (p.Glu192Asp) c.699G>T (p.Glu233Asp) n.203G>T | |
19 | g.6714066C>G | CA403643044 | C3 | c.576G>C (p.Glu192Asp) c.699G>C (p.Glu233Asp) n.203G>C | |
19 | g.6714066C>T | CA505124961 | C3 | c.576G>A (p.Glu192=) c.699G>A (p.Glu233=) n.203G>A | |
19 | g.6714067T>A | CA403643047 | C3 | c.575A>T (p.Glu192Val) c.698A>T (p.Glu233Val) n.202A>T | |
19 | g.6714067T>C | CA403643046 | C3 | c.575A>G (p.Glu192Gly) c.698A>G (p.Glu233Gly) n.202A>G | |
19 | g.6714067T>G | CA403643045 | C3 | c.575A>C (p.Glu192Ala) c.698A>C (p.Glu233Ala) n.202A>C | |
19 | g.6714068C>A | CA403643048 | C3 | c.574G>T (p.Glu192Ter) c.697G>T (p.Glu233Ter) n.201G>T | |
19 | g.6714068C= | CA2320568388 | C3 | c.574G= (p.Glu192=) c.697G= (p.Glu233=) n.201G= | |
19 | g.6714068C>G | CA403643049 | C3 | c.574G>C (p.Glu192Gln) c.697G>C (p.Glu233Gln) n.201G>C | |
19 | g.6714068C>T | CA9129706 | C3 | c.574G>A (p.Glu192Lys) c.697G>A (p.Glu233Lys) n.201G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714069G>A | CA9129707 | C3 | c.573C>T (p.Phe191=) c.696C>T (p.Phe232=) n.200C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6714069G>C | CA403643050 | C3 | c.573C>G (p.Phe191Leu) c.696C>G (p.Phe232Leu) n.200C>G | |
19 | g.6714069G= | CA2320568389 | C3 | c.573C= (p.Phe191=) c.696C= (p.Phe232=) n.200C= | |
19 | g.6714069G>T | CA403643051 | C3 | c.573C>A (p.Phe191Leu) c.696C>A (p.Phe232Leu) n.200C>A | dbSNP |
19 | g.6714070A>C | CA403643052 | C3 | c.572T>G (p.Phe191Cys) c.695T>G (p.Phe232Cys) n.199T>G | |
19 | g.6714070A>G | CA403643053 | C3 | c.572T>C (p.Phe191Ser) c.695T>C (p.Phe232Ser) n.199T>C | |
19 | g.6714070A>T | CA403643054 | C3 | c.572T>A (p.Phe191Tyr) c.695T>A (p.Phe232Tyr) n.199T>A | |
19 | g.6714071A= | CA2320568390 | C3 | c.571T= (p.Phe191=) c.694T= (p.Phe232=) n.198T= | |
19 | g.6714071A>C | CA403643055 | C3 | c.571T>G (p.Phe191Val) c.694T>G (p.Phe232Val) n.198T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714071A>G | CA403643056 | C3 | c.571T>C (p.Phe191Leu) c.694T>C (p.Phe232Leu) n.198T>C | |
19 | g.6714071A>T | CA403643057 | C3 | c.571T>A (p.Phe191Ile) c.694T>A (p.Phe232Ile) n.198T>A | |
19 | g.6714072A>C | CA403643059 | C3 | c.570T>G (p.Ser190Arg) c.693T>G (p.Ser231Arg) n.197T>G | |
19 | g.6714072A>G | CA505124962 | C3 | c.570T>C (p.Ser190=) c.693T>C (p.Ser231=) n.197T>C | |
19 | g.6714072A>T | CA403643058 | C3 | c.570T>A (p.Ser190Arg) c.693T>A (p.Ser231Arg) n.197T>A | |
19 | g.6714073C>A | CA403643060 | C3 | c.569G>T (p.Ser190Ile) c.692G>T (p.Ser231Ile) n.196G>T | |
19 | g.6714073C= | CA2320568391 | C3 | c.569G= (p.Ser190=) c.692G= (p.Ser231=) n.196G= | |
19 | g.6714073C>G | CA403643061 | C3 | c.569G>C (p.Ser190Thr) c.692G>C (p.Ser231Thr) n.196G>C | |
19 | g.6714073C>T | CA403643062 | C3 | c.569G>A (p.Ser190Asn) c.692G>A (p.Ser231Asn) n.196G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.6714074T>A | CA403643063 | C3 | c.568A>T (p.Ser190Cys) c.691A>T (p.Ser231Cys) n.195A>T | |
19 | g.6714074T>C | CA403643064 | C3 | c.568A>G (p.Ser190Gly) c.691A>G (p.Ser231Gly) n.195A>G | |
19 | g.6714074T>G | CA403643065 | C3 | c.568A>C (p.Ser190Arg) c.691A>C (p.Ser231Arg) n.195A>C | |
19 | g.6714075G>A | CA304798531 | C3 | c.567C>T (p.Pro189=) c.690C>T (p.Pro230=) n.194C>T | dbSNP |
19 | g.6714075G>C | CA505124963 | C3 | c.567C>G (p.Pro189=) c.690C>G (p.Pro230=) n.194C>G | |
19 | g.6714075G= | CA2320568392 | C3 | c.567C= (p.Pro189=) c.690C= (p.Pro230=) n.194C= | |
19 | g.6714075G>T | CA505124964 | C3 | c.567C>A (p.Pro189=) c.690C>A (p.Pro230=) n.194C>A | |
19 | g.6714076G>A | CA403643066 | C3 | c.566C>T (p.Pro189Leu) c.689C>T (p.Pro230Leu) n.193C>T | gnomAD v4 |
19 | g.6714076G>C | CA403643067 | C3 | c.566C>G (p.Pro189Arg) c.689C>G (p.Pro230Arg) n.193C>G | |
19 | g.6714076G>T | CA403643068 | C3 | c.566C>A (p.Pro189His) c.689C>A (p.Pro230His) n.193C>A | |
19 | g.6714077G>A | CA403643069 | C3 | c.565C>T (p.Pro189Ser) c.688C>T (p.Pro230Ser) n.192C>T | |
19 | g.6714077G>C | CA9129708 | C3 | c.565C>G (p.Pro189Ala) c.688C>G (p.Pro230Ala) n.192C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714077G= | CA2320568393 | C3 | c.565C= (p.Pro189=) c.688C= (p.Pro230=) n.192C= | |
19 | g.6714077G>T | CA403643070 | C3 | c.565C>A (p.Pro189Thr) c.688C>A (p.Pro230Thr) n.192C>A | |
19 | g.6714078C>A | CA505124965 | C3 | c.564G>T (p.Leu188=) c.687G>T (p.Leu229=) n.191G>T | |
19 | g.6714078C= | CA2320568394 | C3 | c.564G= (p.Leu188=) c.687G= (p.Leu229=) n.191G= | |
19 | g.6714078C>G | CA505124966 | C3 | c.564G>C (p.Leu188=) c.687G>C (p.Leu229=) n.191G>C | |
19 | g.6714078C>T | CA9129709 | C3 | c.564G>A (p.Leu188=) c.687G>A (p.Leu229=) n.191G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6714079A>C | CA403643073 | C3 | c.563T>G (p.Leu188Arg) c.686T>G (p.Leu229Arg) n.190T>G | |
19 | g.6714079A>G | CA403643071 | C3 | c.563T>C (p.Leu188Pro) c.686T>C (p.Leu229Pro) n.190T>C | |
19 | g.6714079A>T | CA403643072 | C3 | c.563T>A (p.Leu188Gln) c.686T>A (p.Leu229Gln) n.190T>A | |
19 | g.6714080G>A | CA505124967 | C3 | c.562C>T (p.Leu188=) c.685C>T (p.Leu229=) n.189C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714080G>C | CA403643074 | C3 | c.562C>G (p.Leu188Val) c.685C>G (p.Leu229Val) n.189C>G | |
19 | g.6714080G= | CA2320568395 | C3 | c.562C= (p.Leu188=) c.685C= (p.Leu229=) n.189C= | |
19 | g.6714080G>T | CA403643075 | C3 | c.562C>A (p.Leu188Met) c.685C>A (p.Leu229Met) n.189C>A | |
19 | g.6714081C>A | CA505124970 | C3 | c.561G>T (p.Val187=) c.684G>T (p.Val228=) n.188G>T | |
19 | g.6714081C>G | CA505124969 | C3 | c.561G>C (p.Val187=) c.684G>C (p.Val228=) n.188G>C | |
19 | g.6714081C>T | CA505124968 | C3 | c.561G>A (p.Val187=) c.684G>A (p.Val228=) n.188G>A | |
19 | g.6714082A>C | CA403643076 | C3 | c.560T>G (p.Val187Gly) c.683T>G (p.Val228Gly) n.187T>G | |
19 | g.6714082A>G | CA403643077 | C3 | c.560T>C (p.Val187Ala) c.683T>C (p.Val228Ala) n.187T>C | |
19 | g.6714082A>T | CA403643078 | C3 | c.560T>A (p.Val187Glu) c.683T>A (p.Val228Glu) n.187T>A | |
19 | g.6714083C>A | CA403643079 | C3 | c.560-1G>T (n.560-1G>T) c.683-1G>T (n.683-1G>T) n.187-1G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6714083C= | CA2320568396 | C3 | c.560-1G= (n.560-1G=) c.683-1G= (n.683-1G=) n.187-1G= | |
19 | g.6714083C>G | CA403643080 | C3 | c.560-1G>C (n.560-1G>C) c.683-1G>C (n.683-1G>C) n.187-1G>C | |
19 | g.6714083C>T | CA403643081 | C3 | c.560-1G>A (n.560-1G>A) c.683-1G>A (n.683-1G>A) n.187-1G>A | dbSNP |
19 | g.6714084del | CA2576592435 | C3 | c.560-2del (n.560-2del) c.683-2del (n.683-2del) n.187-2del | |
19 | g.6714084T>A | CA403643082 | C3 | c.560-2A>T (n.560-2A>T) c.683-2A>T (n.683-2A>T) n.187-2A>T | |
19 | g.6714084T>C | CA403643083 | C3 | c.560-2A>G (n.560-2A>G) c.683-2A>G (n.683-2A>G) n.187-2A>G | gnomAD v4 |
19 | g.6714084T>G | CA403643084 | C3 | c.560-2A>C (n.560-2A>C) c.683-2A>C (n.683-2A>C) n.187-2A>C | |
19 | g.6714085G>A | CA505124971 | C3 | c.560-3C>T (n.560-3C>T) c.683-3C>T (n.683-3C>T) n.187-3C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714085G= | CA2320568397 | C3 | c.560-3C= (n.560-3C=) c.683-3C= (n.683-3C=) n.187-3C= | |
19 | g.6714085G>T | CA631662341 | C3 | c.560-3C>A (n.560-3C>A) c.683-3C>A (n.683-3C>A) n.187-3C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714086G>A | CA2587878652 | C3 | c.560-4C>T (n.560-4C>T) c.683-4C>T (n.683-4C>T) n.187-4C>T | gnomAD v4 |
19 | g.6714086G>C | CA9129710 | C3 | c.560-4C>G (n.560-4C>G) c.683-4C>G (n.683-4C>G) n.187-4C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714086G= | CA2320568398 | C3 | c.560-4C= (n.560-4C=) c.683-4C= (n.683-4C=) n.187-4C= | |
19 | g.6714086G>T | CA9129711 | C3 | c.560-4C>A (n.560-4C>A) c.683-4C>A (n.683-4C>A) n.187-4C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6714087G>A | CA304798566 | C3 | c.560-5C>T (n.560-5C>T) c.683-5C>T (n.683-5C>T) n.187-5C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6714087G= | CA2320568399 | C3 | c.560-5C= (n.560-5C=) c.683-5C= (n.683-5C=) n.187-5C= |