Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.27173188T>A | CA2689641461 | TEK | c.761-34T>A (n.761-34T>A) c.320-34T>A (n.320-34T>A) c.449-34T>A (n.449-34T>A) | gnomAD v4 |
9 | g.27173189G>A | CA2689641462 | TEK | c.761-33G>A (n.761-33G>A) c.320-33G>A (n.320-33G>A) c.449-33G>A (n.449-33G>A) | gnomAD v4 |
9 | g.27173189G>T | CA2689641463 | TEK | c.761-33G>T (n.761-33G>T) c.320-33G>T (n.320-33G>T) c.449-33G>T (n.449-33G>T) | gnomAD v4 |
9 | g.27173190A= | CA1842021553 | TEK | c.761-32A= (n.761-32A=) c.320-32A= (n.320-32A=) c.449-32A= (n.449-32A=) | |
9 | g.27173190A>G | CA2689641464 | TEK | c.761-32A>G (n.761-32A>G) c.320-32A>G (n.320-32A>G) c.449-32A>G (n.449-32A>G) | gnomAD v4 |
9 | g.27173190A>T | CA587124036 | TEK | c.761-32A>T (n.761-32A>T) c.320-32A>T (n.320-32A>T) c.449-32A>T (n.449-32A>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173191C= | CA1842021557 | TEK | c.761-31C= (n.761-31C=) c.320-31C= (n.320-31C=) c.449-31C= (n.449-31C=) | |
9 | g.27173191C>G | CA1842021558 | TEK | c.761-31C>G (n.761-31C>G) c.320-31C>G (n.320-31C>G) c.449-31C>G (n.449-31C>G) | dbSNP gnomAD v4 |
9 | g.27173191C>T | CA5016012 | TEK | c.761-31C>T (n.761-31C>T) c.320-31C>T (n.320-31C>T) c.449-31C>T (n.449-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173193_27173194del | CA2783315783 | TEK | c.761-29_761-28del (n.761-29_761-28del) c.320-29_320-28del (n.320-29_320-28del) c.449-29_449-28del (n.449-29_449-28del) | |
9 | g.27173192T>C | CA5016013 | TEK | c.761-30T>C (n.761-30T>C) c.320-30T>C (n.320-30T>C) c.449-30T>C (n.449-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173192T= | CA1842021563 | TEK | c.761-30T= (n.761-30T=) c.320-30T= (n.320-30T=) c.449-30T= (n.449-30T=) | |
9 | g.27173193C>T | CA2689641465 | TEK | c.761-29C>T (n.761-29C>T) c.320-29C>T (n.320-29C>T) c.449-29C>T (n.449-29C>T) | gnomAD v4 |
9 | g.27173195G>C | CA652725126 | TEK | c.761-27G>C (n.761-27G>C) c.320-27G>C (n.320-27G>C) c.449-27G>C (n.449-27G>C) | COSMIC |
9 | g.27173197A= | CA1842021567 | TEK | c.761-25A= (n.761-25A=) c.320-25A= (n.320-25A=) c.449-25A= (n.449-25A=) | |
9 | g.27173197A>C | CA5016014 | TEK | c.761-25A>C (n.761-25A>C) c.320-25A>C (n.320-25A>C) c.449-25A>C (n.449-25A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173197A>G | CA191326020 | TEK | c.761-25A>G (n.761-25A>G) c.320-25A>G (n.320-25A>G) c.449-25A>G (n.449-25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173197A>T | CA5016015 | TEK | c.761-25A>T (n.761-25A>T) c.320-25A>T (n.320-25A>T) c.449-25A>T (n.449-25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173200A= | CA1842021574 | TEK | c.761-22A= (n.761-22A=) c.320-22A= (n.320-22A=) c.449-22A= (n.449-22A=) | |
9 | g.27173200A>G | CA587124042 | TEK | c.761-22A>G (n.761-22A>G) c.320-22A>G (n.320-22A>G) c.449-22A>G (n.449-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173200_27173205delinsATCTTT | CA1842021573 | TEK | c.761-22_761-17delinsATCTTT (n.761-22_761-17delinsATCTTT) c.320-22_320-17delinsATCTTT (n.320-22_320-17delinsATCTTT) c.449-22_449-17delinsATCTTT (n.449-22_449-17delinsATCTTT) | |
9 | g.27173208_27173212del | CA587124044 | TEK | c.761-14_761-10del (n.761-14_761-10del) c.320-14_320-10del (n.320-14_320-10del) c.449-14_449-10del (n.449-14_449-10del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173202dup | CA2838536365 | TEK | c.761-20dup (n.761-20dup) c.320-20dup (n.320-20dup) c.449-20dup (n.449-20dup) | |
9 | g.27173203T>C | CA2689641466 | TEK | c.761-19T>C (n.761-19T>C) c.320-19T>C (n.320-19T>C) c.449-19T>C (n.449-19T>C) | gnomAD v4 |
9 | g.27173205T>G | CA2689641468 | TEK | c.761-17T>G (n.761-17T>G) c.320-17T>G (n.320-17T>G) c.449-17T>G (n.449-17T>G) | gnomAD v4 |
9 | g.27173207_27173209del | CA2689641467 | TEK | c.761-15_761-13del (n.761-15_761-13del) c.320-15_320-13del (n.320-15_320-13del) c.449-15_449-13del (n.449-15_449-13del) | gnomAD v4 |
9 | g.27173206T>G | CA2689641469 | TEK | c.761-16T>G (n.761-16T>G) c.320-16T>G (n.320-16T>G) c.449-16T>G (n.449-16T>G) | gnomAD v4 |
9 | g.27173207C>A | CA2579318896 | TEK | c.761-15C>A (n.761-15C>A) c.320-15C>A (n.320-15C>A) c.449-15C>A (n.449-15C>A) | gnomAD v4 |
9 | g.27173208T>C | CA2579318897 | TEK | c.761-14T>C (n.761-14T>C) c.320-14T>C (n.320-14T>C) c.449-14T>C (n.449-14T>C) | |
9 | g.27173209T>A | CA2783315785 | TEK | c.761-13T>A (n.761-13T>A) c.320-13T>A (n.320-13T>A) c.449-13T>A (n.449-13T>A) | |
9 | g.27173209T>C | CA5016016 | TEK | c.761-13T>C (n.761-13T>C) c.320-13T>C (n.320-13T>C) c.449-13T>C (n.449-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173209T= | CA1842021582 | TEK | c.761-13T= (n.761-13T=) c.320-13T= (n.320-13T=) c.449-13T= (n.449-13T=) | |
9 | g.27173212C= | CA1842021584 | TEK | c.761-10C= (n.761-10C=) c.320-10C= (n.320-10C=) c.449-10C= (n.449-10C=) | |
9 | g.27173212C>T | CA587124047 | TEK | c.761-10C>T (n.761-10C>T) c.320-10C>T (n.320-10C>T) c.449-10C>T (n.449-10C>T) | dbSNP gnomAD v2 |
9 | g.27173213C= | CA1842021586 | TEK | c.761-9C= (n.761-9C=) c.320-9C= (n.320-9C=) c.449-9C= (n.449-9C=) | |
9 | g.27173213C>G | CA587124050 | TEK | c.761-9C>G (n.761-9C>G) c.320-9C>G (n.320-9C>G) c.449-9C>G (n.449-9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173213C>T | CA5016017 | TEK | c.761-9C>T (n.761-9C>T) c.320-9C>T (n.320-9C>T) c.449-9C>T (n.449-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173214T>C | CA191326031 | TEK | c.761-8T>C (n.761-8T>C) c.320-8T>C (n.320-8T>C) c.449-8T>C (n.449-8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173214T= | CA1842021590 | TEK | c.761-8T= (n.761-8T=) c.320-8T= (n.320-8T=) c.449-8T= (n.449-8T=) | |
9 | g.27173215_27173218del | CA2689641470 | TEK | c.761-7_761-4del (n.761-7_761-4del) c.320-7_320-4del (n.320-7_320-4del) c.449-7_449-4del (n.449-7_449-4del) | gnomAD v4 |
9 | g.27173219A>T | CA2510873988 | TEK | c.761-3A>T (n.761-3A>T) c.320-3A>T (n.320-3A>T) c.449-3A>T (n.449-3A>T) | |
9 | g.27173220A>C | CA373124953 | TEK | c.761-2A>C (n.761-2A>C) c.320-2A>C (n.320-2A>C) c.449-2A>C (n.449-2A>C) | |
9 | g.27173220A>G | CA373124942 | TEK | c.761-2A>G (n.761-2A>G) c.320-2A>G (n.320-2A>G) c.449-2A>G (n.449-2A>G) | gnomAD v4 |
9 | g.27173220A>T | CA373124944 | TEK | c.761-2A>T (n.761-2A>T) c.320-2A>T (n.320-2A>T) c.449-2A>T (n.449-2A>T) | |
9 | g.27173220_27173221insCT | CA2689641471 | TEK | c.761-2_761-1insCT (n.761-2_761-1insCT) c.320-2_320-1insCT (n.320-2_320-1insCT) c.449-2_449-1insCT (n.449-2_449-1insCT) | gnomAD v4 |
9 | g.27173221G>A | CA373124958 | TEK | c.761-1G>A (n.761-1G>A) c.320-1G>A (n.320-1G>A) c.449-1G>A (n.449-1G>A) | |
9 | g.27173221G>C | CA373124962 | TEK | c.761-1G>C (n.761-1G>C) c.320-1G>C (n.320-1G>C) c.449-1G>C (n.449-1G>C) | |
9 | g.27173221G>T | CA373124965 | TEK | c.761-1G>T (n.761-1G>T) c.320-1G>T (n.320-1G>T) c.449-1G>T (n.449-1G>T) | |
9 | g.27173222C>A | CA373124968 | TEK | c.761C>A (p.Ala254Asp) c.320C>A (p.Ala107Asp) c.449C>A (p.Ala150Asp) | |
9 | g.27173222C>G | CA373124972 | TEK | c.761C>G (p.Ala254Gly) c.320C>G (p.Ala107Gly) c.449C>G (p.Ala150Gly) | |
9 | g.27173222C>T | CA373124974 | TEK | c.761C>T (p.Ala254Val) c.320C>T (p.Ala107Val) c.449C>T (p.Ala150Val) | |
9 | g.27173223T>A | CA464168605 | TEK | c.762T>A (p.Ala254=) c.321T>A (p.Ala107=) c.450T>A (p.Ala150=) | |
9 | g.27173223T>C | CA464168606 | TEK | c.762T>C (p.Ala254=) c.321T>C (p.Ala107=) c.450T>C (p.Ala150=) | gnomAD v4 |
9 | g.27173223T>G | CA464168608 | TEK | c.762T>G (p.Ala254=) c.321T>G (p.Ala107=) c.450T>G (p.Ala150=) | |
9 | g.27173224T>A | CA373124980 | TEK | c.763T>A (p.Cys255Ser) c.322T>A (p.Cys108Ser) c.451T>A (p.Cys151Ser) | |
9 | g.27173224T>C | CA373124982 | TEK | c.763T>C (p.Cys255Arg) c.322T>C (p.Cys108Arg) c.451T>C (p.Cys151Arg) | |
9 | g.27173224T>G | CA373124984 | TEK | c.763T>G (p.Cys255Gly) c.322T>G (p.Cys108Gly) c.451T>G (p.Cys151Gly) | |
9 | g.27173225G>A | CA373125002 | TEK | c.764G>A (p.Cys255Tyr) c.323G>A (p.Cys108Tyr) c.452G>A (p.Cys151Tyr) | gnomAD v4 |
9 | g.27173225G>C | CA373125007 | TEK | c.764G>C (p.Cys255Ser) c.323G>C (p.Cys108Ser) c.452G>C (p.Cys151Ser) | |
9 | g.27173225G>T | CA373125009 | TEK | c.764G>T (p.Cys255Phe) c.323G>T (p.Cys108Phe) c.452G>T (p.Cys151Phe) | COSMIC COSMIC |
9 | g.27173226T>A | CA373125013 | TEK | c.765T>A (p.Cys255Ter) c.324T>A (p.Cys108Ter) c.453T>A (p.Cys151Ter) | |
9 | g.27173226T>C | CA464168613 | TEK | c.765T>C (p.Cys255=) c.324T>C (p.Cys108=) c.453T>C (p.Cys151=) | gnomAD v4 |
9 | g.27173226T>G | CA373125011 | TEK | c.765T>G (p.Cys255Trp) c.324T>G (p.Cys108Trp) c.453T>G (p.Cys151Trp) | |
9 | g.27173227G>A | CA373125017 | TEK | c.766G>A (p.Glu256Lys) c.325G>A (p.Glu109Lys) c.454G>A (p.Glu152Lys) | gnomAD v4 |
9 | g.27173227G>C | CA373125021 | TEK | c.766G>C (p.Glu256Gln) c.325G>C (p.Glu109Gln) c.454G>C (p.Glu152Gln) | |
9 | g.27173227G>T | CA373125018 | TEK | c.766G>T (p.Glu256Ter) c.325G>T (p.Glu109Ter) c.454G>T (p.Glu152Ter) | |
9 | g.27173228A>C | CA373125026 | TEK | c.767A>C (p.Glu256Ala) c.326A>C (p.Glu109Ala) c.455A>C (p.Glu152Ala) | |
9 | g.27173228A>G | CA373125029 | TEK | c.767A>G (p.Glu256Gly) c.326A>G (p.Glu109Gly) c.455A>G (p.Glu152Gly) | |
9 | g.27173228A>T | CA373125035 | TEK | c.767A>T (p.Glu256Val) c.326A>T (p.Glu109Val) c.455A>T (p.Glu152Val) | |
9 | g.27173229A= | CA1842021595 | TEK | c.768A= (p.Glu256=) c.327A= (p.Glu109=) c.456A= (p.Glu152=) | |
9 | g.27173229A>C | CA373125039 | TEK | c.768A>C (p.Glu256Asp) c.327A>C (p.Glu109Asp) c.456A>C (p.Glu152Asp) | |
9 | g.27173229A>G | CA464168616 | TEK | c.768A>G (p.Glu256=) c.327A>G (p.Glu109=) c.456A>G (p.Glu152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173229A>T | CA373125042 | TEK | c.768A>T (p.Glu256Asp) c.327A>T (p.Glu109Asp) c.456A>T (p.Glu152Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173230C>A | CA373125045 | TEK | c.769C>A (p.Leu257Met) c.328C>A (p.Leu110Met) c.457C>A (p.Leu153Met) | |
9 | g.27173230C= | CA1842021601 | TEK | c.769C= (p.Leu257=) c.328C= (p.Leu110=) c.457C= (p.Leu153=) | |
9 | g.27173230C>G | CA373125057 | TEK | c.769C>G (p.Leu257Val) c.328C>G (p.Leu110Val) c.457C>G (p.Leu153Val) | gnomAD v4 |
9 | g.27173230C>T | CA464168618 | TEK | c.769C>T (p.Leu257=) c.328C>T (p.Leu110=) c.457C>T (p.Leu153=) | dbSNP gnomAD v2 |
9 | g.27173231T>A | CA373125061 | TEK | c.770T>A (p.Leu257Gln) c.329T>A (p.Leu110Gln) c.458T>A (p.Leu153Gln) | |
9 | g.27173231T>C | CA373125062 | TEK | c.770T>C (p.Leu257Pro) c.329T>C (p.Leu110Pro) c.458T>C (p.Leu153Pro) | |
9 | g.27173231T>G | CA373125063 | TEK | c.770T>G (p.Leu257Arg) c.329T>G (p.Leu110Arg) c.458T>G (p.Leu153Arg) | |
9 | g.27173232G>A | CA5016018 | TEK | c.771G>A (p.Leu257=) c.330G>A (p.Leu110=) c.459G>A (p.Leu153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173232G>C | CA464168620 | TEK | c.771G>C (p.Leu257=) c.330G>C (p.Leu110=) c.459G>C (p.Leu153=) | |
9 | g.27173232G= | CA1842021605 | TEK | c.771G= (p.Leu257=) c.330G= (p.Leu110=) c.459G= (p.Leu153=) | |
9 | g.27173232G>T | CA464168619 | TEK | c.771G>T (p.Leu257=) c.330G>T (p.Leu110=) c.459G>T (p.Leu153=) | |
9 | g.27173233C>A | CA373125068 | TEK | c.772C>A (p.His258Asn) c.331C>A (p.His111Asn) c.460C>A (p.His154Asn) | |
9 | g.27173233C>G | CA373125067 | TEK | c.772C>G (p.His258Asp) c.331C>G (p.His111Asp) c.460C>G (p.His154Asp) | |
9 | g.27173233C>T | CA373125066 | TEK | c.772C>T (p.His258Tyr) c.331C>T (p.His111Tyr) c.460C>T (p.His154Tyr) | |
9 | g.27173234A>C | CA373125070 | TEK | c.773A>C (p.His258Pro) c.332A>C (p.His111Pro) c.461A>C (p.His154Pro) | |
9 | g.27173234A>G | CA373125072 | TEK | c.773A>G (p.His258Arg) c.332A>G (p.His111Arg) c.461A>G (p.His154Arg) | gnomAD v4 |
9 | g.27173234A>T | CA373125074 | TEK | c.773A>T (p.His258Leu) c.332A>T (p.His111Leu) c.461A>T (p.His154Leu) | |
9 | g.27173235C>A | CA373125077 | TEK | c.774C>A (p.His258Gln) c.333C>A (p.His111Gln) c.462C>A (p.His154Gln) | |
9 | g.27173235C>G | CA373125082 | TEK | c.774C>G (p.His258Gln) c.333C>G (p.His111Gln) c.462C>G (p.His154Gln) | |
9 | g.27173235C>T | CA464168624 | TEK | c.774C>T (p.His258=) c.333C>T (p.His111=) c.462C>T (p.His154=) | |
9 | g.27173236A>C | CA373125087 | TEK | c.775A>C (p.Thr259Pro) c.334A>C (p.Thr112Pro) c.463A>C (p.Thr155Pro) | |
9 | g.27173236A>G | CA373125093 | TEK | c.775A>G (p.Thr259Ala) c.334A>G (p.Thr112Ala) c.463A>G (p.Thr155Ala) | |
9 | g.27173236A>T | CA373125097 | TEK | c.775A>T (p.Thr259Ser) c.334A>T (p.Thr112Ser) c.463A>T (p.Thr155Ser) | |
9 | g.27173237C>A | CA373125101 | TEK | c.776C>A (p.Thr259Lys) c.335C>A (p.Thr112Lys) c.464C>A (p.Thr155Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173237C= | CA1842021612 | TEK | c.776C= (p.Thr259=) c.335C= (p.Thr112=) c.464C= (p.Thr155=) | |
9 | g.27173237C>G | CA373125104 | TEK | c.776C>G (p.Thr259Arg) c.335C>G (p.Thr112Arg) c.464C>G (p.Thr155Arg) | |
9 | g.27173237C>T | CA5016019 | TEK | c.776C>T (p.Thr259Met) c.335C>T (p.Thr112Met) c.464C>T (p.Thr155Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.27173238G>A | CA5016020 | TEK | c.777G>A (p.Thr259=) c.336G>A (p.Thr112=) c.465G>A (p.Thr155=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173238G>C | CA464168628 | TEK | c.777G>C (p.Thr259=) c.336G>C (p.Thr112=) c.465G>C (p.Thr155=) | |
9 | g.27173238G= | CA1842021621 | TEK | c.777G= (p.Thr259=) c.336G= (p.Thr112=) c.465G= (p.Thr155=) | |
9 | g.27173238G>T | CA464168629 | TEK | c.777G>T (p.Thr259=) c.336G>T (p.Thr112=) c.465G>T (p.Thr155=) | gnomAD v4 |
9 | g.27173239T>A | CA373125122 | TEK | c.778T>A (p.Phe260Ile) c.337T>A (p.Phe113Ile) c.466T>A (p.Phe156Ile) | |
9 | g.27173239T>C | CA373125119 | TEK | c.778T>C (p.Phe260Leu) c.337T>C (p.Phe113Leu) c.466T>C (p.Phe156Leu) | |
9 | g.27173239T>G | CA373125112 | TEK | c.778T>G (p.Phe260Val) c.337T>G (p.Phe113Val) c.466T>G (p.Phe156Val) | |
9 | g.27173240T>A | CA373125125 | TEK | c.779T>A (p.Phe260Tyr) c.338T>A (p.Phe113Tyr) c.467T>A (p.Phe156Tyr) | |
9 | g.27173240T>C | CA373125128 | TEK | c.779T>C (p.Phe260Ser) c.338T>C (p.Phe113Ser) c.467T>C (p.Phe156Ser) | |
9 | g.27173240T>G | CA373125129 | TEK | c.779T>G (p.Phe260Cys) c.338T>G (p.Phe113Cys) c.467T>G (p.Phe156Cys) | |
9 | g.27173241T>A | CA373125130 | TEK | c.780T>A (p.Phe260Leu) c.339T>A (p.Phe113Leu) c.468T>A (p.Phe156Leu) | |
9 | g.27173241T>C | CA464168631 | TEK | c.780T>C (p.Phe260=) c.339T>C (p.Phe113=) c.468T>C (p.Phe156=) | |
9 | g.27173241T>G | CA373125133 | TEK | c.780T>G (p.Phe260Leu) c.339T>G (p.Phe113Leu) c.468T>G (p.Phe156Leu) | |
9 | g.27173242G>A | CA373125143 | TEK | c.781G>A (p.Gly261Ser) c.340G>A (p.Gly114Ser) c.469G>A (p.Gly157Ser) | |
9 | g.27173242G>C | CA373125141 | TEK | c.781G>C (p.Gly261Arg) c.340G>C (p.Gly114Arg) c.469G>C (p.Gly157Arg) | |
9 | g.27173242G>T | CA373125138 | TEK | c.781G>T (p.Gly261Cys) c.340G>T (p.Gly114Cys) c.469G>T (p.Gly157Cys) | |
9 | g.27173243G>A | CA373125147 | TEK | c.782G>A (p.Gly261Asp) c.341G>A (p.Gly114Asp) c.470G>A (p.Gly157Asp) | gnomAD v4 |
9 | g.27173243G>C | CA373125150 | TEK | c.782G>C (p.Gly261Ala) c.341G>C (p.Gly114Ala) c.470G>C (p.Gly157Ala) | |
9 | g.27173243G>T | CA373125153 | TEK | c.782G>T (p.Gly261Val) c.341G>T (p.Gly114Val) c.470G>T (p.Gly157Val) | |
9 | g.27173244C>A | CA464168634 | TEK | c.783C>A (p.Gly261=) c.342C>A (p.Gly114=) c.471C>A (p.Gly157=) | |
9 | g.27173244C= | CA1842021625 | TEK | c.783C= (p.Gly261=) c.342C= (p.Gly114=) c.471C= (p.Gly157=) | |
9 | g.27173244C>G | CA464168635 | TEK | c.783C>G (p.Gly261=) c.342C>G (p.Gly114=) c.471C>G (p.Gly157=) | |
9 | g.27173244C>T | CA5016021 | TEK | c.783C>T (p.Gly261=) c.342C>T (p.Gly114=) c.471C>T (p.Gly157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173245A>C | CA464168636 | TEK | c.784A>C (p.Arg262=) c.343A>C (p.Arg115=) c.472A>C (p.Arg158=) | |
9 | g.27173245A>G | CA373125159 | TEK | c.784A>G (p.Arg262Gly) c.343A>G (p.Arg115Gly) c.472A>G (p.Arg158Gly) | |
9 | g.27173245A>T | CA373125161 | TEK | c.784A>T (p.Arg262Ter) c.343A>T (p.Arg115Ter) c.472A>T (p.Arg158Ter) | |
9 | g.27173246G>A | CA373125165 | TEK | c.785G>A (p.Arg262Lys) c.344G>A (p.Arg115Lys) c.473G>A (p.Arg158Lys) | |
9 | g.27173246G>C | CA373125171 | TEK | c.785G>C (p.Arg262Thr) c.344G>C (p.Arg115Thr) c.473G>C (p.Arg158Thr) | |
9 | g.27173246G>T | CA373125168 | TEK | c.785G>T (p.Arg262Ile) c.344G>T (p.Arg115Ile) c.473G>T (p.Arg158Ile) | |
9 | g.27173247A>C | CA373125177 | TEK | c.786A>C (p.Arg262Ser) c.345A>C (p.Arg115Ser) c.474A>C (p.Arg158Ser) | |
9 | g.27173247A>G | CA464168639 | TEK | c.786A>G (p.Arg262=) c.345A>G (p.Arg115=) c.474A>G (p.Arg158=) | |
9 | g.27173247A>T | CA373125179 | TEK | c.786A>T (p.Arg262Ser) c.345A>T (p.Arg115Ser) c.474A>T (p.Arg158Ser) | |
9 | g.27173248A= | CA1842021629 | TEK | c.787A= (p.Thr263=) c.346A= (p.Thr116=) c.475A= (p.Thr159=) | |
9 | g.27173248A>C | CA373125183 | TEK | c.787A>C (p.Thr263Pro) c.346A>C (p.Thr116Pro) c.475A>C (p.Thr159Pro) | |
9 | g.27173248A>G | CA5016022 | TEK | c.787A>G (p.Thr263Ala) c.346A>G (p.Thr116Ala) c.475A>G (p.Thr159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173248A>T | CA373125187 | TEK | c.787A>T (p.Thr263Ser) c.346A>T (p.Thr116Ser) c.475A>T (p.Thr159Ser) | |
9 | g.27173249C>A | CA373125196 | TEK | c.788C>A (p.Thr263Asn) c.347C>A (p.Thr116Asn) c.476C>A (p.Thr159Asn) | |
9 | g.27173249C>G | CA373125199 | TEK | c.788C>G (p.Thr263Ser) c.347C>G (p.Thr116Ser) c.476C>G (p.Thr159Ser) | |
9 | g.27173249C>T | CA373125202 | TEK | c.788C>T (p.Thr263Ile) c.347C>T (p.Thr116Ile) c.476C>T (p.Thr159Ile) | gnomAD v4 |
9 | g.27173250T>A | CA464168641 | TEK | c.789T>A (p.Thr263=) c.348T>A (p.Thr116=) c.477T>A (p.Thr159=) | |
9 | g.27173250T>C | CA464168642 | TEK | c.789T>C (p.Thr263=) c.348T>C (p.Thr116=) c.477T>C (p.Thr159=) | |
9 | g.27173250T>G | CA464168643 | TEK | c.789T>G (p.Thr263=) c.348T>G (p.Thr116=) c.477T>G (p.Thr159=) | |
9 | g.27173251T>A | CA373125206 | TEK | c.790T>A (p.Cys264Ser) c.349T>A (p.Cys117Ser) c.478T>A (p.Cys160Ser) | |
9 | g.27173251T>C | CA373125210 | TEK | c.790T>C (p.Cys264Arg) c.349T>C (p.Cys117Arg) c.478T>C (p.Cys160Arg) | |
9 | g.27173251T>G | CA373125211 | TEK | c.790T>G (p.Cys264Gly) c.349T>G (p.Cys117Gly) c.478T>G (p.Cys160Gly) | |
9 | g.27173252G>A | CA373125217 | TEK | c.791G>A (p.Cys264Tyr) c.350G>A (p.Cys117Tyr) c.479G>A (p.Cys160Tyr) | |
9 | g.27173252G>C | CA373125222 | TEK | c.791G>C (p.Cys264Ser) c.350G>C (p.Cys117Ser) c.479G>C (p.Cys160Ser) | |
9 | g.27173252G>T | CA373125214 | TEK | c.791G>T (p.Cys264Phe) c.350G>T (p.Cys117Phe) c.479G>T (p.Cys160Phe) | |
9 | g.27173253T>A | CA373125229 | TEK | c.792T>A (p.Cys264Ter) c.351T>A (p.Cys117Ter) c.480T>A (p.Cys160Ter) | gnomAD v4 |
9 | g.27173253T>C | CA464168646 | TEK | c.792T>C (p.Cys264=) c.351T>C (p.Cys117=) c.480T>C (p.Cys160=) | |
9 | g.27173253T>G | CA373125226 | TEK | c.792T>G (p.Cys264Trp) c.351T>G (p.Cys117Trp) c.480T>G (p.Cys160Trp) | |
9 | g.27173254A>C | CA373125241 | TEK | c.793A>C (p.Lys265Gln) c.352A>C (p.Lys118Gln) c.481A>C (p.Lys161Gln) | |
9 | g.27173254A>G | CA373125232 | TEK | c.793A>G (p.Lys265Glu) c.352A>G (p.Lys118Glu) c.481A>G (p.Lys161Glu) | gnomAD v4 |
9 | g.27173254A>T | CA373125239 | TEK | c.793A>T (p.Lys265Ter) c.352A>T (p.Lys118Ter) c.481A>T (p.Lys161Ter) | |
9 | g.27173255A>C | CA373125244 | TEK | c.794A>C (p.Lys265Thr) c.353A>C (p.Lys118Thr) c.482A>C (p.Lys161Thr) | |
9 | g.27173255A>G | CA373125246 | TEK | c.794A>G (p.Lys265Arg) c.353A>G (p.Lys118Arg) c.482A>G (p.Lys161Arg) | |
9 | g.27173255A>T | CA373125248 | TEK | c.794A>T (p.Lys265Ile) c.353A>T (p.Lys118Ile) c.482A>T (p.Lys161Ile) | |
9 | g.27173256A= | CA1842021633 | TEK | c.795A= (p.Lys265=) c.354A= (p.Lys118=) c.483A= (p.Lys161=) | |
9 | g.27173256A>C | CA373125250 | TEK | c.795A>C (p.Lys265Asn) c.354A>C (p.Lys118Asn) c.483A>C (p.Lys161Asn) | |
9 | g.27173256A>G | CA5016023 | TEK | c.795A>G (p.Lys265=) c.354A>G (p.Lys118=) c.483A>G (p.Lys161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173256A>T | CA373125257 | TEK | c.795A>T (p.Lys265Asn) c.354A>T (p.Lys118Asn) c.483A>T (p.Lys161Asn) | |
9 | g.27173257G>A | CA373125261 | TEK | c.796G>A (p.Glu266Lys) c.355G>A (p.Glu119Lys) c.484G>A (p.Glu162Lys) | |
9 | g.27173257G>C | CA373125264 | TEK | c.796G>C (p.Glu266Gln) c.355G>C (p.Glu119Gln) c.484G>C (p.Glu162Gln) | dbSNP |
9 | g.27173257G= | CA1842021639 | TEK | c.796G= (p.Glu266=) c.355G= (p.Glu119=) c.484G= (p.Glu162=) | |
9 | g.27173257G>T | CA373125267 | TEK | c.796G>T (p.Glu266Ter) c.355G>T (p.Glu119Ter) c.484G>T (p.Glu162Ter) | |
9 | g.27173258A>C | CA373125276 | TEK | c.797A>C (p.Glu266Ala) c.356A>C (p.Glu119Ala) c.485A>C (p.Glu162Ala) | |
9 | g.27173258A>G | CA373125273 | TEK | c.797A>G (p.Glu266Gly) c.356A>G (p.Glu119Gly) c.485A>G (p.Glu162Gly) | |
9 | g.27173258A>T | CA373125269 | TEK | c.797A>T (p.Glu266Val) c.356A>T (p.Glu119Val) c.485A>T (p.Glu162Val) | |
9 | g.27173259A>C | CA373125279 | TEK | c.798A>C (p.Glu266Asp) c.357A>C (p.Glu119Asp) c.486A>C (p.Glu162Asp) | |
9 | g.27173259A>G | CA464168650 | TEK | c.798A>G (p.Glu266=) c.357A>G (p.Glu119=) c.486A>G (p.Glu162=) | |
9 | g.27173259A>T | CA373125282 | TEK | c.798A>T (p.Glu266Asp) c.357A>T (p.Glu119Asp) c.486A>T (p.Glu162Asp) | |
9 | g.27173260A>C | CA464168651 | TEK | c.799A>C (p.Arg267=) c.358A>C (p.Arg120=) c.487A>C (p.Arg163=) | |
9 | g.27173260A>G | CA373125286 | TEK | c.799A>G (p.Arg267Gly) c.358A>G (p.Arg120Gly) c.487A>G (p.Arg163Gly) | |
9 | g.27173260A>T | CA373125287 | TEK | c.799A>T (p.Arg267Trp) c.358A>T (p.Arg120Trp) c.487A>T (p.Arg163Trp) | |
9 | g.27173261G>A | CA373125292 | TEK | c.800G>A (p.Arg267Lys) c.359G>A (p.Arg120Lys) c.488G>A (p.Arg163Lys) | |
9 | g.27173261G>C | CA373125295 | TEK | c.800G>C (p.Arg267Thr) c.359G>C (p.Arg120Thr) c.488G>C (p.Arg163Thr) | |
9 | g.27173261G= | CA1842021643 | TEK | c.800G= (p.Arg267=) c.359G= (p.Arg120=) c.488G= (p.Arg163=) | |
9 | g.27173261G>T | CA191326048 | TEK | c.800G>T (p.Arg267Met) c.359G>T (p.Arg120Met) c.488G>T (p.Arg163Met) | dbSNP |
9 | g.27173262G>A | CA464168654 | TEK | c.801G>A (p.Arg267=) c.360G>A (p.Arg120=) c.489G>A (p.Arg163=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173262G>C | CA373125304 | TEK | c.801G>C (p.Arg267Ser) c.360G>C (p.Arg120Ser) c.489G>C (p.Arg163Ser) | dbSNP |
9 | g.27173262G= | CA1842021647 | TEK | c.801G= (p.Arg267=) c.360G= (p.Arg120=) c.489G= (p.Arg163=) | |
9 | g.27173262G>T | CA373125305 | TEK | c.801G>T (p.Arg267Ser) c.360G>T (p.Arg120Ser) c.489G>T (p.Arg163Ser) | |
9 | g.27173263T>A | CA373125306 | TEK | c.802T>A (p.Cys268Ser) c.361T>A (p.Cys121Ser) c.490T>A (p.Cys164Ser) | |
9 | g.27173263T>C | CA373125308 | TEK | c.802T>C (p.Cys268Arg) c.361T>C (p.Cys121Arg) c.490T>C (p.Cys164Arg) | |
9 | g.27173263T>G | CA373125310 | TEK | c.802T>G (p.Cys268Gly) c.361T>G (p.Cys121Gly) c.490T>G (p.Cys164Gly) | |
9 | g.27173264G>A | CA373125317 | TEK | c.803G>A (p.Cys268Tyr) c.362G>A (p.Cys121Tyr) c.491G>A (p.Cys164Tyr) | |
9 | g.27173264G>C | CA373125319 | TEK | c.803G>C (p.Cys268Ser) c.362G>C (p.Cys121Ser) c.491G>C (p.Cys164Ser) | |
9 | g.27173264G>T | CA373125314 | TEK | c.803G>T (p.Cys268Phe) c.362G>T (p.Cys121Phe) c.491G>T (p.Cys164Phe) | |
9 | g.27173265C>A | CA373125323 | TEK | c.804C>A (p.Cys268Ter) c.363C>A (p.Cys121Ter) c.492C>A (p.Cys164Ter) | |
9 | g.27173265C>G | CA373125326 | TEK | c.804C>G (p.Cys268Trp) c.363C>G (p.Cys121Trp) c.492C>G (p.Cys164Trp) | |
9 | g.27173265C>T | CA464168658 | TEK | c.804C>T (p.Cys268=) c.363C>T (p.Cys121=) c.492C>T (p.Cys164=) | |
9 | g.27173266A>C | CA373125331 | TEK | c.805A>C (p.Ser269Arg) c.364A>C (p.Ser122Arg) c.493A>C (p.Ser165Arg) | |
9 | g.27173266A>G | CA373125334 | TEK | c.805A>G (p.Ser269Gly) c.364A>G (p.Ser122Gly) c.493A>G (p.Ser165Gly) | |
9 | g.27173266A>T | CA373125337 | TEK | c.805A>T (p.Ser269Cys) c.364A>T (p.Ser122Cys) c.493A>T (p.Ser165Cys) | |
9 | g.27173267G>A | CA373125342 | TEK | c.806G>A (p.Ser269Asn) c.365G>A (p.Ser122Asn) c.494G>A (p.Ser165Asn) | |
9 | g.27173267G>C | CA373125345 | TEK | c.806G>C (p.Ser269Thr) c.365G>C (p.Ser122Thr) c.494G>C (p.Ser165Thr) | |
9 | g.27173267G= | CA1842021651 | TEK | c.806G= (p.Ser269=) c.365G= (p.Ser122=) c.494G= (p.Ser165=) | |
9 | g.27173267G>T | CA5016024 | TEK | c.806G>T (p.Ser269Ile) c.365G>T (p.Ser122Ile) c.494G>T (p.Ser165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173268T>A | CA373125351 | TEK | c.807T>A (p.Ser269Arg) c.366T>A (p.Ser122Arg) c.495T>A (p.Ser165Arg) | |
9 | g.27173268T>C | CA464168660 | TEK | c.807T>C (p.Ser269=) c.366T>C (p.Ser122=) c.495T>C (p.Ser165=) | |
9 | g.27173268T>G | CA373125354 | TEK | c.807T>G (p.Ser269Arg) c.366T>G (p.Ser122Arg) c.495T>G (p.Ser165Arg) | |
9 | g.27173269G>A | CA373125358 | TEK | c.808G>A (p.Gly270Arg) c.367G>A (p.Gly123Arg) c.496G>A (p.Gly166Arg) | gnomAD v4 |
9 | g.27173269G>C | CA373125364 | TEK | c.808G>C (p.Gly270Arg) c.367G>C (p.Gly123Arg) c.496G>C (p.Gly166Arg) | |
9 | g.27173269G>T | CA373125366 | TEK | c.808G>T (p.Gly270Ter) c.367G>T (p.Gly123Ter) c.496G>T (p.Gly166Ter) | |
9 | g.27173270G>A | CA5016025 | TEK | c.809G>A (p.Gly270Glu) c.368G>A (p.Gly123Glu) c.497G>A (p.Gly166Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.27173270G>C | CA373125371 | TEK | c.809G>C (p.Gly270Ala) c.368G>C (p.Gly123Ala) c.497G>C (p.Gly166Ala) | gnomAD v4 |
9 | g.27173270G= | CA1842021655 | TEK | c.809G= (p.Gly270=) c.368G= (p.Gly123=) c.497G= (p.Gly166=) | |
9 | g.27173270G>T | CA373125368 | TEK | c.809G>T (p.Gly270Val) c.368G>T (p.Gly123Val) c.497G>T (p.Gly166Val) | |
9 | g.27173271A= | CA1842021661 | TEK | c.810A= (p.Gly270=) c.369A= (p.Gly123=) c.498A= (p.Gly166=) | |
9 | g.27173271A>C | CA464168662 | TEK | c.810A>C (p.Gly270=) c.369A>C (p.Gly123=) c.498A>C (p.Gly166=) | |
9 | g.27173271A>G | CA191326058 | TEK | c.810A>G (p.Gly270=) c.369A>G (p.Gly123=) c.498A>G (p.Gly166=) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.27173271A>T | CA464168663 | TEK | c.810A>T (p.Gly270=) c.369A>T (p.Gly123=) c.498A>T (p.Gly166=) | |
9 | g.27173272C>A | CA373125379 | TEK | c.811C>A (p.Gln271Lys) c.370C>A (p.Gln124Lys) c.499C>A (p.Gln167Lys) | |
9 | g.27173272C= | CA1842021665 | TEK | c.811C= (p.Gln271=) c.370C= (p.Gln124=) c.499C= (p.Gln167=) | |
9 | g.27173272C>G | CA5016026 | TEK | c.811C>G (p.Gln271Glu) c.370C>G (p.Gln124Glu) c.499C>G (p.Gln167Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.27173272C>T | CA373125384 | TEK | c.811C>T (p.Gln271Ter) c.370C>T (p.Gln124Ter) c.499C>T (p.Gln167Ter) | |
9 | g.27173273A>C | CA373125389 | TEK | c.812A>C (p.Gln271Pro) c.371A>C (p.Gln124Pro) c.500A>C (p.Gln167Pro) | |
9 | g.27173273A>G | CA373125392 | TEK | c.812A>G (p.Gln271Arg) c.371A>G (p.Gln124Arg) c.500A>G (p.Gln167Arg) | |
9 | g.27173273A>T | CA373125395 | TEK | c.812A>T (p.Gln271Leu) c.371A>T (p.Gln124Leu) c.500A>T (p.Gln167Leu) | |
9 | g.27173274A>C | CA373125400 | TEK | c.813A>C (p.Gln271His) c.372A>C (p.Gln124His) c.501A>C (p.Gln167His) | |
9 | g.27173274A>G | CA464168667 | TEK | c.813A>G (p.Gln271=) c.372A>G (p.Gln124=) c.501A>G (p.Gln167=) | gnomAD v4 |
9 | g.27173274A>T | CA373125405 | TEK | c.813A>T (p.Gln271His) c.372A>T (p.Gln124His) c.501A>T (p.Gln167His) | |
9 | g.27173275G>A | CA373125410 | TEK | c.814G>A (p.Glu272Lys) c.373G>A (p.Glu125Lys) c.502G>A (p.Glu168Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173275G>C | CA373125413 | TEK | c.814G>C (p.Glu272Gln) c.373G>C (p.Glu125Gln) c.502G>C (p.Glu168Gln) | |
9 | g.27173275G= | CA1842021669 | TEK | c.814G= (p.Glu272=) c.373G= (p.Glu125=) c.502G= (p.Glu168=) | |
9 | g.27173275G>T | CA373125416 | TEK | c.814G>T (p.Glu272Ter) c.373G>T (p.Glu125Ter) c.502G>T (p.Glu168Ter) | |
9 | g.27173276A>C | CA373125419 | TEK | c.815A>C (p.Glu272Ala) c.374A>C (p.Glu125Ala) c.503A>C (p.Glu168Ala) | |
9 | g.27173276A>G | CA373125421 | TEK | c.815A>G (p.Glu272Gly) c.374A>G (p.Glu125Gly) c.503A>G (p.Glu168Gly) | |
9 | g.27173276A>T | CA373125423 | TEK | c.815A>T (p.Glu272Val) c.374A>T (p.Glu125Val) c.503A>T (p.Glu168Val) | |
9 | g.27173277G>A | CA464168670 | TEK | c.816G>A (p.Glu272=) c.375G>A (p.Glu125=) c.504G>A (p.Glu168=) | gnomAD v4 |
9 | g.27173277G>C | CA373125427 | TEK | c.816G>C (p.Glu272Asp) c.375G>C (p.Glu125Asp) c.504G>C (p.Glu168Asp) | |
9 | g.27173277G>T | CA373125430 | TEK | c.816G>T (p.Glu272Asp) c.375G>T (p.Glu125Asp) c.504G>T (p.Glu168Asp) | |
9 | g.27173278G>A | CA373125432 | TEK | c.817G>A (p.Gly273Arg) c.376G>A (p.Gly126Arg) c.505G>A (p.Gly169Arg) | gnomAD v4 |
9 | g.27173278G>C | CA373125438 | TEK | c.817G>C (p.Gly273Arg) c.376G>C (p.Gly126Arg) c.505G>C (p.Gly169Arg) | |
9 | g.27173278G>T | CA373125435 | TEK | c.817G>T (p.Gly273Ter) c.376G>T (p.Gly126Ter) c.505G>T (p.Gly169Ter) | |
9 | g.27173279G>A | CA373125443 | TEK | c.818G>A (p.Gly273Glu) c.377G>A (p.Gly126Glu) c.506G>A (p.Gly169Glu) | dbSNP |
9 | g.27173279G>C | CA373125447 | TEK | c.818G>C (p.Gly273Ala) c.377G>C (p.Gly126Ala) c.506G>C (p.Gly169Ala) | |
9 | g.27173279G= | CA1842021673 | TEK | c.818G= (p.Gly273=) c.377G= (p.Gly126=) c.506G= (p.Gly169=) | |
9 | g.27173279G>T | CA373125450 | TEK | c.818G>T (p.Gly273Val) c.377G>T (p.Gly126Val) c.506G>T (p.Gly169Val) | |
9 | g.27173280A>C | CA464168672 | TEK | c.819A>C (p.Gly273=) c.378A>C (p.Gly126=) c.507A>C (p.Gly169=) | |
9 | g.27173280A>G | CA464168673 | TEK | c.819A>G (p.Gly273=) c.378A>G (p.Gly126=) c.507A>G (p.Gly169=) | |
9 | g.27173280A>T | CA464168674 | TEK | c.819A>T (p.Gly273=) c.378A>T (p.Gly126=) c.507A>T (p.Gly169=) | gnomAD v4 |
9 | g.27173281T>A | CA373125454 | TEK | c.820T>A (p.Cys274Ser) c.379T>A (p.Cys127Ser) c.508T>A (p.Cys170Ser) | |
9 | g.27173281T>C | CA373125457 | TEK | c.820T>C (p.Cys274Arg) c.379T>C (p.Cys127Arg) c.508T>C (p.Cys170Arg) | gnomAD v4 |
9 | g.27173281T>G | CA373125460 | TEK | c.820T>G (p.Cys274Gly) c.379T>G (p.Cys127Gly) c.508T>G (p.Cys170Gly) | |
9 | g.27173282G>A | CA373125464 | TEK | c.821G>A (p.Cys274Tyr) c.380G>A (p.Cys127Tyr) c.509G>A (p.Cys170Tyr) | |
9 | g.27173282G>C | CA373125467 | TEK | c.821G>C (p.Cys274Ser) c.380G>C (p.Cys127Ser) c.509G>C (p.Cys170Ser) | |
9 | g.27173282G>T | CA373125470 | TEK | c.821G>T (p.Cys274Phe) c.380G>T (p.Cys127Phe) c.509G>T (p.Cys170Phe) | |
9 | g.27173283C>A | CA373125473 | TEK | c.822C>A (p.Cys274Ter) c.381C>A (p.Cys127Ter) c.510C>A (p.Cys170Ter) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.27173283C= | CA1842021676 | TEK | c.822C= (p.Cys274=) c.381C= (p.Cys127=) c.510C= (p.Cys170=) | |
9 | g.27173283C>G | CA373125476 | TEK | c.822C>G (p.Cys274Trp) c.381C>G (p.Cys127Trp) c.510C>G (p.Cys170Trp) | |
9 | g.27173283C>T | CA464168676 | TEK | c.822C>T (p.Cys274=) c.381C>T (p.Cys127=) c.510C>T (p.Cys170=) | |
9 | g.27173284A>C | CA373125488 | TEK | c.823A>C (p.Lys275Gln) c.382A>C (p.Lys128Gln) c.511A>C (p.Lys171Gln) | |
9 | g.27173284A>G | CA373125481 | TEK | c.823A>G (p.Lys275Glu) c.382A>G (p.Lys128Glu) c.511A>G (p.Lys171Glu) | |
9 | g.27173284A>T | CA373125485 | TEK | c.823A>T (p.Lys275Ter) c.382A>T (p.Lys128Ter) c.511A>T (p.Lys171Ter) | |
9 | g.27173285A>C | CA373125492 | TEK | c.824A>C (p.Lys275Thr) c.383A>C (p.Lys128Thr) c.512A>C (p.Lys171Thr) | |
9 | g.27173285A>G | CA373125494 | TEK | c.824A>G (p.Lys275Arg) c.383A>G (p.Lys128Arg) c.512A>G (p.Lys171Arg) | |
9 | g.27173285A>T | CA373125497 | TEK | c.824A>T (p.Lys275Met) c.383A>T (p.Lys128Met) c.512A>T (p.Lys171Met) | gnomAD v4 |
9 | g.27173286G>A | CA464168677 | TEK | c.825G>A (p.Lys275=) c.384G>A (p.Lys128=) c.513G>A (p.Lys171=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.27173286G>C | CA373125501 | TEK | c.825G>C (p.Lys275Asn) c.384G>C (p.Lys128Asn) c.513G>C (p.Lys171Asn) | |
9 | g.27173286G= | CA1842021681 | TEK | c.825G= (p.Lys275=) c.384G= (p.Lys128=) c.513G= (p.Lys171=) | |
9 | g.27173286G>T | CA373125504 | TEK | c.825G>T (p.Lys275Asn) c.384G>T (p.Lys128Asn) c.513G>T (p.Lys171Asn) | |
9 | g.27173287T>A | CA373125508 | TEK | c.826T>A (p.Ser276Thr) c.385T>A (p.Ser129Thr) c.514T>A (p.Ser172Thr) | |
9 | g.27173287T>C | CA373125511 | TEK | c.826T>C (p.Ser276Pro) c.385T>C (p.Ser129Pro) c.514T>C (p.Ser172Pro) | gnomAD v4 |
9 | g.27173287T>G | CA373125514 | TEK | c.826T>G (p.Ser276Ala) c.385T>G (p.Ser129Ala) c.514T>G (p.Ser172Ala) | dbSNP |
9 | g.27173288C>A | CA373125517 | TEK | c.827C>A (p.Ser276Tyr) c.386C>A (p.Ser129Tyr) c.515C>A (p.Ser172Tyr) | |
9 | g.27173288C>G | CA373125520 | TEK | c.827C>G (p.Ser276Cys) c.386C>G (p.Ser129Cys) c.515C>G (p.Ser172Cys) | |
9 | g.27173288C>T | CA373125523 | TEK | c.827C>T (p.Ser276Phe) c.386C>T (p.Ser129Phe) c.515C>T (p.Ser172Phe) |