Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154969320C>T | CA2695169611 | F8 | c.1009+11G>A (n.1009+11G>A) c.*885+11G>A (n.*885+11G>A) c.904+11G>A (n.904+11G>A) | gnomAD v4 |
X | g.154969321A= | CA2466848961 | F8 | c.1009+10T= (n.1009+10T=) c.*885+10T= (n.*885+10T=) c.904+10T= (n.904+10T=) | |
X | g.154969321_154969322insC | CA2466848962 | F8 | c.1009+9_1009+10insG (n.1009+9_1009+10insG) c.*885+9_*885+10insG (n.*885+9_*885+10insG) c.904+9_904+10insG (n.904+9_904+10insG) | dbSNP |
X | g.154969324_154969330delinsATATTAC | CA2466848963 | F8 | c.1009+1_1009+7delinsGTAATAT (n.1009+1_1009+7delinsGTAATAT) c.*885+1_*885+7delinsGTAATAT (n.*885+1_*885+7delinsGTAATAT) c.904+1_904+7delinsGTAATAT (n.904+1_904+7delinsGTAATAT) | |
X | g.154969325T>C | CA645292866 | F8 | c.1009+6A>G (n.1009+6A>G) c.*885+6A>G (n.*885+6A>G) c.904+6A>G (n.904+6A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154969325T= | CA2466848965 | F8 | c.1009+6A= (n.1009+6A=) c.*885+6A= (n.*885+6A=) c.904+6A= (n.904+6A=) | |
X | g.154969325_154969330del | CA2466848964 | F8 | c.1009+1_1009+6del (n.1009+1_1009+6del) c.*885+1_*885+6del (n.*885+1_*885+6del) c.904+1_904+6del (n.904+1_904+6del) | dbSNP |
X | g.154969328T>A | CA2695237411 | F8 | c.1009+3A>T (n.1009+3A>T) c.*885+3A>T (n.*885+3A>T) c.904+3A>T (n.904+3A>T) | |
X | g.154969328T>C | CA2695237409 | F8 | c.1009+3A>G (n.1009+3A>G) c.*885+3A>G (n.*885+3A>G) c.904+3A>G (n.904+3A>G) | |
X | g.154969328T>G | CA2695237408 | F8 | c.1009+3A>C (n.1009+3A>C) c.*885+3A>C (n.*885+3A>C) c.904+3A>C (n.904+3A>C) | |
X | g.154969329_154969448del | CA2695237407 | F8 | c.893_1009+3del c.*769_*885+3del c.788_904+3del | |
X | g.154969329A>C | CA414917522 | F8 | c.1009+2T>G (n.1009+2T>G) c.*885+2T>G (n.*885+2T>G) c.904+2T>G (n.904+2T>G) | |
X | g.154969329A>G | CA414917526 | F8 | c.1009+2T>C (n.1009+2T>C) c.*885+2T>C (n.*885+2T>C) c.904+2T>C (n.904+2T>C) | |
X | g.154969329A>T | CA414917528 | F8 | c.1009+2T>A (n.1009+2T>A) c.*885+2T>A (n.*885+2T>A) c.904+2T>A (n.904+2T>A) | |
X | g.154969329_154969333delinsG | CA2695237412 | F8 | c.1007_1009+2delinsC c.*883_*885+2delinsC c.902_904+2delinsC | |
X | g.154969330C>A | CA414917530 | F8 | c.1009+1G>T (n.1009+1G>T) c.*885+1G>T (n.*885+1G>T) c.904+1G>T (n.904+1G>T) | dbSNP |
X | g.154969330C= | CA2466848966 | F8 | c.1009+1G= (n.1009+1G=) c.*885+1G= (n.*885+1G=) c.904+1G= (n.904+1G=) | |
X | g.154969330C>G | CA414917532 | F8 | c.1009+1G>C (n.1009+1G>C) c.*885+1G>C (n.*885+1G>C) c.904+1G>C (n.904+1G>C) | |
X | g.154969330C>T | CA414917534 | F8 | c.1009+1G>A (n.1009+1G>A) c.*885+1G>A (n.*885+1G>A) c.904+1G>A (n.904+1G>A) | |
X | g.154969331C>A | CA414917536 | F8 | c.1009G>T (p.Asp337Tyr) c.*885G>T (n.*885G>T) c.904G>T (p.Asp302Tyr) | |
X | g.154969331C>G | CA414917539 | F8 | c.1009G>C (p.Asp337His) c.*885G>C (n.*885G>C) c.904G>C (p.Asp302His) | |
X | g.154969331C>T | CA414917537 | F8 | c.1009G>A (p.Asp337Asn) c.*885G>A (n.*885G>A) c.904G>A (p.Asp302Asn) | |
X | g.154969332A= | CA2466848967 | F8 | c.1008T= (p.His336=) c.*884T= (n.*884T=) c.903T= (p.His301=) | |
X | g.154969332A>C | CA414917541 | F8 | c.1008T>G (p.His336Gln) c.*884T>G (n.*884T>G) c.903T>G (p.His301Gln) | |
X | g.154969332A>G | CA519366986 | F8 | c.1008T>C (p.His336=) c.*884T>C (n.*884T>C) c.903T>C (p.His301=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154969332A>T | CA414917543 | F8 | c.1008T>A (p.His336Gln) c.*884T>A (n.*884T>A) c.903T>A (p.His301Gln) | |
X | g.154969333T>A | CA414917545 | F8 | c.1007A>T (p.His336Leu) c.*883A>T (n.*883A>T) c.902A>T (p.His301Leu) | |
X | g.154969333T>C | CA414917546 | F8 | c.1007A>G (p.His336Arg) c.*883A>G (n.*883A>G) c.902A>G (p.His301Arg) | gnomAD v4 |
X | g.154969333T>G | CA414917549 | F8 | c.1007A>C (p.His336Pro) c.*883A>C (n.*883A>C) c.902A>C (p.His301Pro) | |
X | g.154969334G>A | CA414917551 | F8 | c.1006C>T (p.His336Tyr) c.*882C>T (n.*882C>T) c.901C>T (p.His301Tyr) | |
X | g.154969334G>C | CA414917552 | F8 | c.1006C>G (p.His336Asp) c.*882C>G (n.*882C>G) c.901C>G (p.His301Asp) | |
X | g.154969334G>T | CA414917554 | F8 | c.1006C>A (p.His336Asn) c.*882C>A (n.*882C>A) c.901C>A (p.His301Asn) | |
X | g.154969335T>A | CA10568520 | F8 | c.1005A>T (p.Gln335His) c.*881A>T (n.*881A>T) c.900A>T (p.Gln300His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969335T>C | CA519366998 | F8 | c.1005A>G (p.Gln335=) c.*881A>G (n.*881A>G) c.900A>G (p.Gln300=) | |
X | g.154969335T>G | CA414917558 | F8 | c.1005A>C (p.Gln335His) c.*881A>C (n.*881A>C) c.900A>C (p.Gln300His) | |
X | g.154969335T= | CA2466848968 | F8 | c.1005A= (p.Gln335=) c.*881A= (n.*881A=) c.900A= (p.Gln300=) | |
X | g.154969336T>A | CA414917563 | F8 | c.1004A>T (p.Gln335Leu) c.*880A>T (n.*880A>T) c.899A>T (p.Gln300Leu) | |
X | g.154969336T>C | CA414917567 | F8 | c.1004A>G (p.Gln335Arg) c.*880A>G (n.*880A>G) c.899A>G (p.Gln300Arg) | |
X | g.154969336T>G | CA414917565 | F8 | c.1004A>C (p.Gln335Pro) c.*880A>C (n.*880A>C) c.899A>C (p.Gln300Pro) | |
X | g.154969337G>A | CA414917570 | F8 | c.1003C>T (p.Gln335Ter) c.*879C>T (n.*879C>T) c.898C>T (p.Gln300Ter) | dbSNP |
X | g.154969337G>C | CA414917572 | F8 | c.1003C>G (p.Gln335Glu) c.*879C>G (n.*879C>G) c.898C>G (p.Gln300Glu) | |
X | g.154969337G= | CA2466848969 | F8 | c.1003C= (p.Gln335=) c.*879C= (n.*879C=) c.898C= (p.Gln300=) | |
X | g.154969337G>T | CA414917574 | F8 | c.1003C>A (p.Gln335Lys) c.*879C>A (n.*879C>A) c.898C>A (p.Gln300Lys) | gnomAD v4 COSMIC COSMIC |
X | g.154969338G>A | CA519367013 | F8 | c.1002C>T (p.His334=) c.*878C>T (n.*878C>T) c.897C>T (p.His299=) | dbSNP |
X | g.154969338G>C | CA414917575 | F8 | c.1002C>G (p.His334Gln) c.*878C>G (n.*878C>G) c.897C>G (p.His299Gln) | |
X | g.154969338G= | CA2466848970 | F8 | c.1002C= (p.His334=) c.*878C= (n.*878C=) c.897C= (p.His299=) | |
X | g.154969338G>T | CA414917576 | F8 | c.1002C>A (p.His334Gln) c.*878C>A (n.*878C>A) c.897C>A (p.His299Gln) | dbSNP |
X | g.154969339T>A | CA414917578 | F8 | c.1001A>T (p.His334Leu) c.*877A>T (n.*877A>T) c.896A>T (p.His299Leu) | |
X | g.154969339T>C | CA414917580 | F8 | c.1001A>G (p.His334Arg) c.*877A>G (n.*877A>G) c.896A>G (p.His299Arg) | |
X | g.154969339T>G | CA414917583 | F8 | c.1001A>C (p.His334Pro) c.*877A>C (n.*877A>C) c.896A>C (p.His299Pro) | |
X | g.154969340G>A | CA414917585 | F8 | c.1000C>T (p.His334Tyr) c.*876C>T (n.*876C>T) c.895C>T (p.His299Tyr) | dbSNP |
X | g.154969340G>C | CA414917587 | F8 | c.1000C>G (p.His334Asp) c.*876C>G (n.*876C>G) c.895C>G (p.His299Asp) | |
X | g.154969340G= | CA2466848971 | F8 | c.1000C= (p.His334=) c.*876C= (n.*876C=) c.895C= (p.His299=) | |
X | g.154969340G>T | CA414917589 | F8 | c.1000C>A (p.His334Asn) c.*876C>A (n.*876C>A) c.895C>A (p.His299Asn) | |
X | g.154969341G>A | CA519367028 | F8 | c.999C>T (p.Ser333=) c.*875C>T (n.*875C>T) c.894C>T (p.Ser298=) | |
X | g.154969341G>C | CA519367030 | F8 | c.999C>G (p.Ser333=) c.*875C>G (n.*875C>G) c.894C>G (p.Ser298=) | |
X | g.154969341G>T | CA519367029 | F8 | c.999C>A (p.Ser333=) c.*875C>A (n.*875C>A) c.894C>A (p.Ser298=) | |
X | g.154969342G>A | CA414917598 | F8 | c.998C>T (p.Ser333Phe) c.*874C>T (n.*874C>T) c.893C>T (p.Ser298Phe) | |
X | g.154969342G>C | CA414917594 | F8 | c.998C>G (p.Ser333Cys) c.*874C>G (n.*874C>G) c.893C>G (p.Ser298Cys) | |
X | g.154969342G>T | CA414917596 | F8 | c.998C>A (p.Ser333Tyr) c.*874C>A (n.*874C>A) c.893C>A (p.Ser298Tyr) | COSMIC COSMIC |
X | g.154969343A>C | CA414917600 | F8 | c.997T>G (p.Ser333Ala) c.*873T>G (n.*873T>G) c.892T>G (p.Ser298Ala) | |
X | g.154969343A>G | CA414917602 | F8 | c.997T>C (p.Ser333Pro) c.*873T>C (n.*873T>C) c.892T>C (p.Ser298Pro) | |
X | g.154969343A>T | CA414917604 | F8 | c.997T>A (p.Ser333Thr) c.*873T>A (n.*873T>A) c.892T>A (p.Ser298Thr) | |
X | g.154969344A>C | CA519367036 | F8 | c.996T>G (p.Ser332=) c.*872T>G (n.*872T>G) c.891T>G (p.Ser297=) | |
X | g.154969344A>G | CA519367042 | F8 | c.996T>C (p.Ser332=) c.*872T>C (n.*872T>C) c.891T>C (p.Ser297=) | |
X | g.154969344A>T | CA519367044 | F8 | c.996T>A (p.Ser332=) c.*872T>A (n.*872T>A) c.891T>A (p.Ser297=) | |
X | g.154969345G>A | CA414917606 | F8 | c.995C>T (p.Ser332Phe) c.*871C>T (n.*871C>T) c.890C>T (p.Ser297Phe) | gnomAD v4 |
X | g.154969345G>C | CA414917608 | F8 | c.995C>G (p.Ser332Cys) c.*871C>G (n.*871C>G) c.890C>G (p.Ser297Cys) | |
X | g.154969345G>T | CA414917610 | F8 | c.995C>A (p.Ser332Tyr) c.*871C>A (n.*871C>A) c.890C>A (p.Ser297Tyr) | |
X | g.154969346A>C | CA414917613 | F8 | c.994T>G (p.Ser332Ala) c.*870T>G (n.*870T>G) c.889T>G (p.Ser297Ala) | |
X | g.154969346A>G | CA414917614 | F8 | c.994T>C (p.Ser332Pro) c.*870T>C (n.*870T>C) c.889T>C (p.Ser297Pro) | |
X | g.154969346A>T | CA414917616 | F8 | c.994T>A (p.Ser332Thr) c.*870T>A (n.*870T>A) c.889T>A (p.Ser297Thr) | |
X | g.154969347G>A | CA519367059 | F8 | c.993C>T (p.Ile331=) c.*869C>T (n.*869C>T) c.888C>T (p.Ile296=) | |
X | g.154969347G>C | CA414917618 | F8 | c.993C>G (p.Ile331Met) c.*869C>G (n.*869C>G) c.888C>G (p.Ile296Met) | |
X | g.154969347G>T | CA519367060 | F8 | c.993C>A (p.Ile331=) c.*869C>A (n.*869C>A) c.888C>A (p.Ile296=) | |
X | g.154969348A= | CA2466848972 | F8 | c.992T= (p.Ile331=) c.*868T= (n.*868T=) c.887T= (p.Ile296=) | |
X | g.154969348A>C | CA414917623 | F8 | c.992T>G (p.Ile331Ser) c.*868T>G (n.*868T>G) c.887T>G (p.Ile296Ser) | |
X | g.154969348A>G | CA414917621 | F8 | c.992T>C (p.Ile331Thr) c.*868T>C (n.*868T>C) c.887T>C (p.Ile296Thr) | ClinVar dbSNP |
X | g.154969348A>T | CA414917620 | F8 | c.992T>A (p.Ile331Asn) c.*868T>A (n.*868T>A) c.887T>A (p.Ile296Asn) | |
X | g.154969350_154969351del | CA2695237418 | F8 | c.991_992del (p.Ile331LeufsTer6) c.*867_*868del (n.*867_*868del) c.886_887del (p.Ile296LeufsTer6) | |
X | g.154969349T>A | CA414917625 | F8 | c.991A>T (p.Ile331Phe) c.*867A>T (n.*867A>T) c.886A>T (p.Ile296Phe) | dbSNP |
X | g.154969349T>C | CA414917629 | F8 | c.991A>G (p.Ile331Val) c.*867A>G (n.*867A>G) c.886A>G (p.Ile296Val) | |
X | g.154969349T>G | CA414917627 | F8 | c.991A>C (p.Ile331Leu) c.*867A>C (n.*867A>C) c.886A>C (p.Ile296Leu) | |
X | g.154969349T= | CA2466848973 | F8 | c.991A= (p.Ile331=) c.*867A= (n.*867A=) c.886A= (p.Ile296=) | |
X | g.154969350A>C | CA414917631 | F8 | c.990T>G (p.His330Gln) c.*866T>G (n.*866T>G) c.885T>G (p.His295Gln) | |
X | g.154969350A>G | CA519367074 | F8 | c.990T>C (p.His330=) c.*866T>C (n.*866T>C) c.885T>C (p.His295=) | |
X | g.154969350A>T | CA414917633 | F8 | c.990T>A (p.His330Gln) c.*866T>A (n.*866T>A) c.885T>A (p.His295Gln) | |
X | g.154969351T>A | CA414917634 | F8 | c.989A>T (p.His330Leu) c.*865A>T (n.*865A>T) c.884A>T (p.His295Leu) | |
X | g.154969351T>C | CA10568521 | F8 | c.989A>G (p.His330Arg) c.*865A>G (n.*865A>G) c.884A>G (p.His295Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969351T>G | CA414917638 | F8 | c.989A>C (p.His330Pro) c.*865A>C (n.*865A>C) c.884A>C (p.His295Pro) | gnomAD v4 |
X | g.154969351T= | CA2466848974 | F8 | c.989A= (p.His330=) c.*865A= (n.*865A=) c.884A= (p.His295=) | |
X | g.154969352G>A | CA414917639 | F8 | c.988C>T (p.His330Tyr) c.*864C>T (n.*864C>T) c.883C>T (p.His295Tyr) | |
X | g.154969352G>C | CA414917642 | F8 | c.988C>G (p.His330Asp) c.*864C>G (n.*864C>G) c.883C>G (p.His295Asp) | |
X | g.154969352G>T | CA414917644 | F8 | c.988C>A (p.His330Asn) c.*864C>A (n.*864C>A) c.883C>A (p.His295Asn) | |
X | g.154969353A>C | CA414917646 | F8 | c.987T>G (p.Cys329Trp) c.*863T>G (n.*863T>G) c.882T>G (p.Cys294Trp) | |
X | g.154969353A>G | CA519367089 | F8 | c.987T>C (p.Cys329=) c.*863T>C (n.*863T>C) c.882T>C (p.Cys294=) | |
X | g.154969353A>T | CA414917648 | F8 | c.987T>A (p.Cys329Ter) c.*863T>A (n.*863T>A) c.882T>A (p.Cys294Ter) | |
X | g.154969354C>A | CA414917650 | F8 | c.986G>T (p.Cys329Phe) c.*862G>T (n.*862G>T) c.881G>T (p.Cys294Phe) | dbSNP |
X | g.154969354C= | CA2466848975 | F8 | c.986G= (p.Cys329=) c.*862G= (n.*862G=) c.881G= (p.Cys294=) | |
X | g.154969354C>G | CA414917652 | F8 | c.986G>C (p.Cys329Ser) c.*862G>C (n.*862G>C) c.881G>C (p.Cys294Ser) | |
X | g.154969354C>T | CA255089 | F8 | c.986G>A (p.Cys329Tyr) c.*862G>A (n.*862G>A) c.881G>A (p.Cys294Tyr) | ClinVar dbSNP |
X | g.154969355A= | CA2466848976 | F8 | c.985T= (p.Cys329=) c.*861T= (n.*861T=) c.880T= (p.Cys294=) | |
X | g.154969355A>C | CA414917658 | F8 | c.985T>G (p.Cys329Gly) c.*861T>G (n.*861T>G) c.880T>G (p.Cys294Gly) | |
X | g.154969355A>G | CA255034 | F8 | c.985T>C (p.Cys329Arg) c.*861T>C (n.*861T>C) c.880T>C (p.Cys294Arg) | ClinVar dbSNP |
X | g.154969355A>T | CA414917656 | F8 | c.985T>A (p.Cys329Ser) c.*861T>A (n.*861T>A) c.880T>A (p.Cys294Ser) | |
X | g.154969358dup | CA2695237420 | F8 | c.985dup (p.Cys329LeufsTer9) c.*861dup (n.*861dup) c.880dup (p.Cys294LeufsTer9) | |
X | g.154969356A= | CA2466848977 | F8 | c.984T= (p.Phe328=) c.*860T= (n.*860T=) c.879T= (p.Phe293=) | |
X | g.154969356A>C | CA414917660 | F8 | c.984T>G (p.Phe328Leu) c.*860T>G (n.*860T>G) c.879T>G (p.Phe293Leu) | ClinVar dbSNP gnomAD v4 |
X | g.154969356A>G | CA10568522 | F8 | c.984T>C (p.Phe328=) c.*860T>C (n.*860T>C) c.879T>C (p.Phe293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154969356A>T | CA414917663 | F8 | c.984T>A (p.Phe328Leu) c.*860T>A (n.*860T>A) c.879T>A (p.Phe293Leu) | |
X | g.154969357A>C | CA414917665 | F8 | c.983T>G (p.Phe328Cys) c.*859T>G (n.*859T>G) c.878T>G (p.Phe293Cys) | |
X | g.154969357A>G | CA414917667 | F8 | c.983T>C (p.Phe328Ser) c.*859T>C (n.*859T>C) c.878T>C (p.Phe293Ser) | |
X | g.154969357A>T | CA414917669 | F8 | c.983T>A (p.Phe328Tyr) c.*859T>A (n.*859T>A) c.878T>A (p.Phe293Tyr) | |
X | g.154969358A>C | CA414917671 | F8 | c.982T>G (p.Phe328Val) c.*858T>G (n.*858T>G) c.877T>G (p.Phe293Val) | |
X | g.154969358A>G | CA414917672 | F8 | c.982T>C (p.Phe328Leu) c.*858T>C (n.*858T>C) c.877T>C (p.Phe293Leu) | |
X | g.154969358A>T | CA414917673 | F8 | c.982T>A (p.Phe328Ile) c.*858T>A (n.*858T>A) c.877T>A (p.Phe293Ile) | |
X | g.154969359C>A | CA519367110 | F8 | c.981G>T (p.Leu327=) c.*857G>T (n.*857G>T) c.876G>T (p.Leu292=) | |
X | g.154969359C>G | CA519367111 | F8 | c.981G>C (p.Leu327=) c.*857G>C (n.*857G>C) c.876G>C (p.Leu292=) | gnomAD v4 |
X | g.154969359C>T | CA519367112 | F8 | c.981G>A (p.Leu327=) c.*857G>A (n.*857G>A) c.876G>A (p.Leu292=) | |
X | g.154969360A= | CA2466848978 | F8 | c.980T= (p.Leu327=) c.*856T= (n.*856T=) c.875T= (p.Leu292=) | |
X | g.154969360A>C | CA414917675 | F8 | c.980T>G (p.Leu327Arg) c.*856T>G (n.*856T>G) c.875T>G (p.Leu292Arg) | |
X | g.154969360A>G | CA255086 | F8 | c.980T>C (p.Leu327Pro) c.*856T>C (n.*856T>C) c.875T>C (p.Leu292Pro) | ClinVar dbSNP |
X | g.154969360A>T | CA414917674 | F8 | c.980T>A (p.Leu327Gln) c.*856T>A (n.*856T>A) c.875T>A (p.Leu292Gln) | dbSNP |
X | g.154969362_154969364del | CA2695237422 | F8 | c.978_980del (p.Leu327del) c.*854_*856del (n.*854_*856del) c.873_875del (p.Leu292del) | |
X | g.154969361G>A | CA519367114 | F8 | c.979C>T (p.Leu327=) c.*855C>T (n.*855C>T) c.874C>T (p.Leu292=) | |
X | g.154969361G>C | CA414917679 | F8 | c.979C>G (p.Leu327Val) c.*855C>G (n.*855C>G) c.874C>G (p.Leu292Val) | ClinVar dbSNP gnomAD v4 |
X | g.154969361G= | CA2466848979 | F8 | c.979C= (p.Leu327=) c.*855C= (n.*855C=) c.874C= (p.Leu292=) | |
X | g.154969361G>T | CA414917680 | F8 | c.979C>A (p.Leu327Met) c.*855C>A (n.*855C>A) c.874C>A (p.Leu292Met) | |
X | g.154969362T>A | CA519367119 | F8 | c.978A>T (p.Leu326=) c.*854A>T (n.*854A>T) c.873A>T (p.Leu291=) | |
X | g.154969362T>C | CA10568523 | F8 | c.978A>G (p.Leu326=) c.*854A>G (n.*854A>G) c.873A>G (p.Leu291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969362T>G | CA519367121 | F8 | c.978A>C (p.Leu326=) c.*854A>C (n.*854A>C) c.873A>C (p.Leu291=) | |
X | g.154969362T= | CA2466848980 | F8 | c.978A= (p.Leu326=) c.*854A= (n.*854A=) c.873A= (p.Leu291=) | |
X | g.154969363A>C | CA414917681 | F8 | c.977T>G (p.Leu326Arg) c.*853T>G (n.*853T>G) c.872T>G (p.Leu291Arg) | |
X | g.154969363A>G | CA414917682 | F8 | c.977T>C (p.Leu326Pro) c.*853T>C (n.*853T>C) c.872T>C (p.Leu291Pro) | |
X | g.154969363A>T | CA414917683 | F8 | c.977T>A (p.Leu326Gln) c.*853T>A (n.*853T>A) c.872T>A (p.Leu291Gln) | |
X | g.154969364G>A | CA519367129 | F8 | c.976C>T (p.Leu326=) c.*852C>T (n.*852C>T) c.871C>T (p.Leu291=) | |
X | g.154969364G>C | CA414917684 | F8 | c.976C>G (p.Leu326Val) c.*852C>G (n.*852C>G) c.871C>G (p.Leu291Val) | |
X | g.154969364G>T | CA414917686 | F8 | c.976C>A (p.Leu326Ile) c.*852C>A (n.*852C>A) c.871C>A (p.Leu291Ile) | |
X | g.154969365A>C | CA414917689 | F8 | c.975T>G (p.Phe325Leu) c.*851T>G (n.*851T>G) c.870T>G (p.Phe290Leu) | |
X | g.154969365A>G | CA519367134 | F8 | c.975T>C (p.Phe325=) c.*851T>C (n.*851T>C) c.870T>C (p.Phe290=) | |
X | g.154969365A>T | CA414917690 | F8 | c.975T>A (p.Phe325Leu) c.*851T>A (n.*851T>A) c.870T>A (p.Phe290Leu) | |
X | g.154969366_154969367del | CA2695237426 | F8 | c.974_975del (p.Phe325SerfsTer12) c.*850_*851del (n.*850_*851del) c.869_870del (p.Phe290SerfsTer12) | |
X | g.154969366A>C | CA414917696 | F8 | c.974T>G (p.Phe325Cys) c.*850T>G (n.*850T>G) c.869T>G (p.Phe290Cys) | |
X | g.154969366A>G | CA414917694 | F8 | c.974T>C (p.Phe325Ser) c.*850T>C (n.*850T>C) c.869T>C (p.Phe290Ser) | |
X | g.154969366A>T | CA414917692 | F8 | c.974T>A (p.Phe325Tyr) c.*850T>A (n.*850T>A) c.869T>A (p.Phe290Tyr) | |
X | g.154969367A>C | CA414917698 | F8 | c.973T>G (p.Phe325Val) c.*849T>G (n.*849T>G) c.868T>G (p.Phe290Val) | |
X | g.154969367A>G | CA414917699 | F8 | c.973T>C (p.Phe325Leu) c.*849T>C (n.*849T>C) c.868T>C (p.Phe290Leu) | |
X | g.154969367A>T | CA414917700 | F8 | c.973T>A (p.Phe325Ile) c.*849T>A (n.*849T>A) c.868T>A (p.Phe290Ile) | |
X | g.154969368C>A | CA414917702 | F8 | c.972G>T (p.Gln324His) c.*848G>T (n.*848G>T) c.867G>T (p.Gln289His) | |
X | g.154969368C>G | CA414917703 | F8 | c.972G>C (p.Gln324His) c.*848G>C (n.*848G>C) c.867G>C (p.Gln289His) | |
X | g.154969368C>T | CA519367140 | F8 | c.972G>A (p.Gln324=) c.*848G>A (n.*848G>A) c.867G>A (p.Gln289=) | |
X | g.154969369T>A | CA414917705 | F8 | c.971A>T (p.Gln324Leu) c.*847A>T (n.*847A>T) c.866A>T (p.Gln289Leu) | |
X | g.154969369T>C | CA414917707 | F8 | c.971A>G (p.Gln324Arg) c.*847A>G (n.*847A>G) c.866A>G (p.Gln289Arg) | |
X | g.154969369T>G | CA414917709 | F8 | c.971A>C (p.Gln324Pro) c.*847A>C (n.*847A>C) c.866A>C (p.Gln289Pro) | |
X | g.154969370G>A | CA414917712 | F8 | c.970C>T (p.Gln324Ter) c.*846C>T (n.*846C>T) c.865C>T (p.Gln289Ter) | |
X | g.154969370G>C | CA414917713 | F8 | c.970C>G (p.Gln324Glu) c.*846C>G (n.*846C>G) c.865C>G (p.Gln289Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969370G= | CA2466848981 | F8 | c.970C= (p.Gln324=) c.*846C= (n.*846C=) c.865C= (p.Gln289=) | |
X | g.154969370G>T | CA501127 | F8 | c.970C>A (p.Gln324Lys) c.*846C>A (n.*846C>A) c.865C>A (p.Gln289Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969371T>A | CA519367150 | F8 | c.969A>T (p.Gly323=) c.*845A>T (n.*845A>T) c.864A>T (p.Gly288=) | |
X | g.154969371T>C | CA519367152 | F8 | c.969A>G (p.Gly323=) c.*845A>G (n.*845A>G) c.864A>G (p.Gly288=) | |
X | g.154969371T>G | CA519367153 | F8 | c.969A>C (p.Gly323=) c.*845A>C (n.*845A>C) c.864A>C (p.Gly288=) | |
X | g.154969372C>A | CA414917720 | F8 | c.968G>T (p.Gly323Val) c.*844G>T (n.*844G>T) c.863G>T (p.Gly288Val) | |
X | g.154969372C>G | CA414917719 | F8 | c.968G>C (p.Gly323Ala) c.*844G>C (n.*844G>C) c.863G>C (p.Gly288Ala) | |
X | g.154969372C>T | CA414917717 | F8 | c.968G>A (p.Gly323Glu) c.*844G>A (n.*844G>A) c.863G>A (p.Gly288Glu) | |
X | g.154969373C>A | CA414917726 | F8 | c.967G>T (p.Gly323Ter) c.*843G>T (n.*843G>T) c.862G>T (p.Gly288Ter) | |
X | g.154969373C>G | CA414917723 | F8 | c.967G>C (p.Gly323Arg) c.*843G>C (n.*843G>C) c.862G>C (p.Gly288Arg) | |
X | g.154969373C>T | CA414917724 | F8 | c.967G>A (p.Gly323Arg) c.*843G>A (n.*843G>A) c.862G>A (p.Gly288Arg) | ClinVar dbSNP |
X | g.154969374A= | CA2466848982 | F8 | c.966T= (p.Leu322=) c.*842T= (n.*842T=) c.861T= (p.Leu287=) | |
X | g.154969374A>C | CA519367166 | F8 | c.966T>G (p.Leu322=) c.*842T>G (n.*842T>G) c.861T>G (p.Leu287=) | |
X | g.154969374A>G | CA519367170 | F8 | c.966T>C (p.Leu322=) c.*842T>C (n.*842T>C) c.861T>C (p.Leu287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969374A>T | CA519367168 | F8 | c.966T>A (p.Leu322=) c.*842T>A (n.*842T>A) c.861T>A (p.Leu287=) | |
X | g.154969375A>C | CA414917728 | F8 | c.965T>G (p.Leu322Arg) c.*841T>G (n.*841T>G) c.860T>G (p.Leu287Arg) | |
X | g.154969375A>G | CA414917733 | F8 | c.965T>C (p.Leu322Pro) c.*841T>C (n.*841T>C) c.860T>C (p.Leu287Pro) | |
X | g.154969375A>T | CA414917735 | F8 | c.965T>A (p.Leu322His) c.*841T>A (n.*841T>A) c.860T>A (p.Leu287His) | |
X | g.154969376G>A | CA414917737 | F8 | c.964C>T (p.Leu322Phe) c.*840C>T (n.*840C>T) c.859C>T (p.Leu287Phe) | |
X | g.154969376G>C | CA414917739 | F8 | c.964C>G (p.Leu322Val) c.*840C>G (n.*840C>G) c.859C>G (p.Leu287Val) | |
X | g.154969376G>T | CA414917741 | F8 | c.964C>A (p.Leu322Ile) c.*840C>A (n.*840C>A) c.859C>A (p.Leu287Ile) | |
X | g.154969377G>A | CA519367178 | F8 | c.963C>T (p.Asp321=) c.*839C>T (n.*839C>T) c.858C>T (p.Asp286=) | gnomAD v4 |
X | g.154969377G>C | CA414917743 | F8 | c.963C>G (p.Asp321Glu) c.*839C>G (n.*839C>G) c.858C>G (p.Asp286Glu) | |
X | g.154969377G>T | CA414917745 | F8 | c.963C>A (p.Asp321Glu) c.*839C>A (n.*839C>A) c.858C>A (p.Asp286Glu) | |
X | g.154969378T>A | CA414917747 | F8 | c.962A>T (p.Asp321Val) c.*838A>T (n.*838A>T) c.857A>T (p.Asp286Val) | |
X | g.154969378T>C | CA414917749 | F8 | c.962A>G (p.Asp321Gly) c.*838A>G (n.*838A>G) c.857A>G (p.Asp286Gly) | gnomAD v4 |
X | g.154969378T>G | CA414917750 | F8 | c.962A>C (p.Asp321Ala) c.*838A>C (n.*838A>C) c.857A>C (p.Asp286Ala) | |
X | g.154969379C>A | CA414917756 | F8 | c.961G>T (p.Asp321Tyr) c.*837G>T (n.*837G>T) c.856G>T (p.Asp286Tyr) | |
X | g.154969379C>G | CA414917752 | F8 | c.961G>C (p.Asp321His) c.*837G>C (n.*837G>C) c.856G>C (p.Asp286His) | |
X | g.154969379C>T | CA414917754 | F8 | c.961G>A (p.Asp321Asn) c.*837G>A (n.*837G>A) c.856G>A (p.Asp286Asn) | |
X | g.154969380C>A | CA414917757 | F8 | c.960G>T (p.Met320Ile) c.*836G>T (n.*836G>T) c.855G>T (p.Met285Ile) | |
X | g.154969380C>G | CA414917759 | F8 | c.960G>C (p.Met320Ile) c.*836G>C (n.*836G>C) c.855G>C (p.Met285Ile) | |
X | g.154969380C>T | CA414917760 | F8 | c.960G>A (p.Met320Ile) c.*836G>A (n.*836G>A) c.855G>A (p.Met285Ile) | |
X | g.154969382_154969384del | CA2695237427 | F8 | c.958_960del (p.Met320del) c.*834_*836del (n.*834_*836del) c.853_855del (p.Met285del) | |
X | g.154969381A>C | CA414917761 | F8 | c.959T>G (p.Met320Arg) c.*835T>G (n.*835T>G) c.854T>G (p.Met285Arg) | |
X | g.154969381A>G | CA414917762 | F8 | c.959T>C (p.Met320Thr) c.*835T>C (n.*835T>C) c.854T>C (p.Met285Thr) | |
X | g.154969381A>T | CA414917764 | F8 | c.959T>A (p.Met320Lys) c.*835T>A (n.*835T>A) c.854T>A (p.Met285Lys) | |
X | g.154969382T>A | CA414917766 | F8 | c.958A>T (p.Met320Leu) c.*834A>T (n.*834A>T) c.853A>T (p.Met285Leu) | |
X | g.154969382T>C | CA414917767 | F8 | c.958A>G (p.Met320Val) c.*834A>G (n.*834A>G) c.853A>G (p.Met285Val) | |
X | g.154969382T>G | CA414917769 | F8 | c.958A>C (p.Met320Leu) c.*834A>C (n.*834A>C) c.853A>C (p.Met285Leu) | |
X | g.154969383_154969391del | CA2695237430 | F8 | c.950_958del (p.Thr317_Leu319del) c.*826_*834del (n.*826_*834del) c.845_853del (p.Thr282_Leu284del) | |
X | g.154969383C>A | CA414917771 | F8 | c.957G>T (p.Leu319Phe) c.*833G>T (n.*833G>T) c.852G>T (p.Leu284Phe) | |
X | g.154969383C>G | CA414917773 | F8 | c.957G>C (p.Leu319Phe) c.*833G>C (n.*833G>C) c.852G>C (p.Leu284Phe) | |
X | g.154969383C>T | CA519367203 | F8 | c.957G>A (p.Leu319=) c.*833G>A (n.*833G>A) c.852G>A (p.Leu284=) | |
X | g.154969384A>C | CA414917774 | F8 | c.956T>G (p.Leu319Trp) c.*832T>G (n.*832T>G) c.851T>G (p.Leu284Trp) | |
X | g.154969384A>G | CA414917778 | F8 | c.956T>C (p.Leu319Ser) c.*832T>C (n.*832T>C) c.851T>C (p.Leu284Ser) | |
X | g.154969384A>T | CA414917776 | F8 | c.956T>A (p.Leu319Ter) c.*832T>A (n.*832T>A) c.851T>A (p.Leu284Ter) | |
X | g.154969385del | CA2695237431 | F8 | c.956del (p.Leu319Ter) c.*832del (n.*832del) c.851del (p.Leu284Ter) | |
X | g.154969385A= | CA2466848983 | F8 | c.955T= (p.Leu319=) c.*831T= (n.*831T=) c.850T= (p.Leu284=) | |
X | g.154969385A>C | CA414917780 | F8 | c.955T>G (p.Leu319Val) c.*831T>G (n.*831T>G) c.850T>G (p.Leu284Val) | |
X | g.154969385A>G | CA519367207 | F8 | c.955T>C (p.Leu319=) c.*831T>C (n.*831T>C) c.850T>C (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969385A>T | CA414917781 | F8 | c.955T>A (p.Leu319Met) c.*831T>A (n.*831T>A) c.850T>A (p.Leu284Met) | |
X | g.154969387_154969388del | CA2695237432 | F8 | c.954_955del (p.Leu319AspfsTer18) c.*830_*831del (n.*830_*831del) c.849_850del (p.Leu284AspfsTer18) | |
X | g.154969386G>A | CA519367209 | F8 | c.954C>T (p.Leu318=) c.*830C>T (n.*830C>T) c.849C>T (p.Leu283=) | |
X | g.154969386G>C | CA519367210 | F8 | c.954C>G (p.Leu318=) c.*830C>G (n.*830C>G) c.849C>G (p.Leu283=) | |
X | g.154969386G>T | CA519367211 | F8 | c.954C>A (p.Leu318=) c.*830C>A (n.*830C>A) c.849C>A (p.Leu283=) | |
X | g.154969387del | CA2695237433 | F8 | c.953del (p.Leu318ProfsTer2) c.*829del (n.*829del) c.848del (p.Leu283ProfsTer2) | |
X | g.154969387A>C | CA414917783 | F8 | c.953T>G (p.Leu318Arg) c.*829T>G (n.*829T>G) c.848T>G (p.Leu283Arg) | |
X | g.154969387A>G | CA414917784 | F8 | c.953T>C (p.Leu318Pro) c.*829T>C (n.*829T>C) c.848T>C (p.Leu283Pro) | gnomAD v4 |
X | g.154969387A>T | CA414917786 | F8 | c.953T>A (p.Leu318His) c.*829T>A (n.*829T>A) c.848T>A (p.Leu283His) | |
X | g.154969388del | CA2695237435 | F8 | c.952del (p.Leu318SerfsTer2) c.*828del (n.*828del) c.847del (p.Leu283SerfsTer2) | |
X | g.154969388G>A | CA414917789 | F8 | c.952C>T (p.Leu318Phe) c.*828C>T (n.*828C>T) c.847C>T (p.Leu283Phe) | dbSNP gnomAD v4 |
X | g.154969388G>C | CA414917790 | F8 | c.952C>G (p.Leu318Val) c.*828C>G (n.*828C>G) c.847C>G (p.Leu283Val) | |
X | g.154969388G= | CA2466848984 | F8 | c.952C= (p.Leu318=) c.*828C= (n.*828C=) c.847C= (p.Leu283=) | |
X | g.154969388G>T | CA414917792 | F8 | c.952C>A (p.Leu318Ile) c.*828C>A (n.*828C>A) c.847C>A (p.Leu283Ile) | |
X | g.154969389T>A | CA519367218 | F8 | c.951A>T (p.Thr317=) c.*827A>T (n.*827A>T) c.846A>T (p.Thr282=) | |
X | g.154969389T>C | CA519367220 | F8 | c.951A>G (p.Thr317=) c.*827A>G (n.*827A>G) c.846A>G (p.Thr282=) | |
X | g.154969389T>G | CA519367222 | F8 | c.951A>C (p.Thr317=) c.*827A>C (n.*827A>C) c.846A>C (p.Thr282=) | |
X | g.154969391_154969394del | CA2695237437 | F8 | c.948_951del (p.Gln316HisfsTer3) c.*824_*827del (n.*824_*827del) c.843_846del (p.Gln281HisfsTer3) | |
X | g.154969390G>A | CA414917793 | F8 | c.950C>T (p.Thr317Ile) c.*826C>T (n.*826C>T) c.845C>T (p.Thr282Ile) | |
X | g.154969390G>C | CA414917795 | F8 | c.950C>G (p.Thr317Arg) c.*826C>G (n.*826C>G) c.845C>G (p.Thr282Arg) | |
X | g.154969390G>T | CA414917797 | F8 | c.950C>A (p.Thr317Lys) c.*826C>A (n.*826C>A) c.845C>A (p.Thr282Lys) | |
X | g.154969391T>A | CA414917801 | F8 | c.949A>T (p.Thr317Ser) c.*825A>T (n.*825A>T) c.844A>T (p.Thr282Ser) | |
X | g.154969391T>C | CA414917799 | F8 | c.949A>G (p.Thr317Ala) c.*825A>G (n.*825A>G) c.844A>G (p.Thr282Ala) | |
X | g.154969391T>G | CA414917800 | F8 | c.949A>C (p.Thr317Pro) c.*825A>C (n.*825A>C) c.844A>C (p.Thr282Pro) | |
X | g.154969393dup | CA2695237438 | F8 | c.949dup (p.Thr317AsnfsTer21) c.*825dup (n.*825dup) c.844dup (p.Thr282AsnfsTer21) | |
X | g.154969392T>A | CA414917802 | F8 | c.948A>T (p.Gln316His) c.*824A>T (n.*824A>T) c.843A>T (p.Gln281His) | |
X | g.154969392T>C | CA519367230 | F8 | c.948A>G (p.Gln316=) c.*824A>G (n.*824A>G) c.843A>G (p.Gln281=) | |
X | g.154969392T>G | CA414917803 | F8 | c.948A>C (p.Gln316His) c.*824A>C (n.*824A>C) c.843A>C (p.Gln281His) | |
X | g.154969393T>A | CA414917804 | F8 | c.947A>T (p.Gln316Leu) c.*823A>T (n.*823A>T) c.842A>T (p.Gln281Leu) | |
X | g.154969393T>C | CA414917807 | F8 | c.947A>G (p.Gln316Arg) c.*823A>G (n.*823A>G) c.842A>G (p.Gln281Arg) | |
X | g.154969393T>G | CA414917809 | F8 | c.947A>C (p.Gln316Pro) c.*823A>C (n.*823A>C) c.842A>C (p.Gln281Pro) | |
X | g.154969394G>A | CA414917812 | F8 | c.946C>T (p.Gln316Ter) c.*822C>T (n.*822C>T) c.841C>T (p.Gln281Ter) | |
X | g.154969394G>C | CA414917813 | F8 | c.946C>G (p.Gln316Glu) c.*822C>G (n.*822C>G) c.841C>G (p.Gln281Glu) | gnomAD v4 |
X | g.154969394G>T | CA414917815 | F8 | c.946C>A (p.Gln316Lys) c.*822C>A (n.*822C>A) c.841C>A (p.Gln281Lys) | |
X | g.154969395A>C | CA519367239 | F8 | c.945T>G (p.Ala315=) c.*821T>G (n.*821T>G) c.840T>G (p.Ala280=) | |
X | g.154969395A>G | CA519367242 | F8 | c.945T>C (p.Ala315=) c.*821T>C (n.*821T>C) c.840T>C (p.Ala280=) | |
X | g.154969395A>T | CA519367243 | F8 | c.945T>A (p.Ala315=) c.*821T>A (n.*821T>A) c.840T>A (p.Ala280=) | |
X | g.154969397_154969399dup | CA2695237441 | F8 | c.943_945dup (p.Ala315_Gln316insAla) c.*819_*821dup (n.*819_*821dup) c.838_840dup (p.Ala280_Gln281insAla) | |
X | g.154969396G>A | CA414917816 | F8 | c.944C>T (p.Ala315Val) c.*820C>T (n.*820C>T) c.839C>T (p.Ala280Val) | gnomAD v4 |
X | g.154969396G>C | CA414917817 | F8 | c.944C>G (p.Ala315Gly) c.*820C>G (n.*820C>G) c.839C>G (p.Ala280Gly) | ClinVar dbSNP |
X | g.154969396G>T | CA414917818 | F8 | c.944C>A (p.Ala315Asp) c.*820C>A (n.*820C>A) c.839C>A (p.Ala280Asp) | |
X | g.154969396_154969397delinsGC | CA2466848985 | F8 | c.943_944delinsGC (p.Ala315=) c.*819_*820delinsGC (n.*819_*820delinsGC) c.838_839delinsGC (p.Ala280=) | |
X | g.154969397del | CA255085 | F8 | c.943del (p.Ala315LeufsTer5) c.*819del (n.*819del) c.838del (p.Ala280LeufsTer5) | ClinVar dbSNP |
X | g.154969397C>A | CA414917823 | F8 | c.943G>T (p.Ala315Ser) c.*819G>T (n.*819G>T) c.838G>T (p.Ala280Ser) | |
X | g.154969397C>G | CA414917825 | F8 | c.943G>C (p.Ala315Pro) c.*819G>C (n.*819G>C) c.838G>C (p.Ala280Pro) | |
X | g.154969397C>T | CA414917820 | F8 | c.943G>A (p.Ala315Thr) c.*819G>A (n.*819G>A) c.838G>A (p.Ala280Thr) | |
X | g.154969398del | CA2695237443 | F8 | c.942del (p.Ala315LeufsTer5) c.*818del (n.*818del) c.837del (p.Ala280LeufsTer5) | |
X | g.154969398A>C | CA519367246 | F8 | c.942T>G (p.Thr314=) c.*818T>G (n.*818T>G) c.837T>G (p.Thr279=) | |
X | g.154969398A>G | CA519367247 | F8 | c.942T>C (p.Thr314=) c.*818T>C (n.*818T>C) c.837T>C (p.Thr279=) | |
X | g.154969398A>T | CA519367248 | F8 | c.942T>A (p.Thr314=) c.*818T>A (n.*818T>A) c.837T>A (p.Thr279=) | |
X | g.154969399G>A | CA414917829 | F8 | c.941C>T (p.Thr314Ile) c.*817C>T (n.*817C>T) c.836C>T (p.Thr279Ile) | |
X | g.154969399G>C | CA414917827 | F8 | c.941C>G (p.Thr314Ser) c.*817C>G (n.*817C>G) c.836C>G (p.Thr279Ser) | |
X | g.154969399G= | CA2466848986 | F8 | c.941C= (p.Thr314=) c.*817C= (n.*817C=) c.836C= (p.Thr279=) | |
X | g.154969399G>T | CA414917831 | F8 | c.941C>A (p.Thr314Asn) c.*817C>A (n.*817C>A) c.836C>A (p.Thr279Asn) | dbSNP |
X | g.154969400T>A | CA414917833 | F8 | c.940A>T (p.Thr314Ser) c.*816A>T (n.*816A>T) c.835A>T (p.Thr279Ser) | |
X | g.154969400T>C | CA255084 | F8 | c.940A>G (p.Thr314Ala) c.*816A>G (n.*816A>G) c.835A>G (p.Thr279Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154969400T>G | CA414917836 | F8 | c.940A>C (p.Thr314Pro) c.*816A>C (n.*816A>C) c.835A>C (p.Thr279Pro) | ClinVar dbSNP |
X | g.154969400T= | CA2466848987 | F8 | c.940A= (p.Thr314=) c.*816A= (n.*816A=) c.835A= (p.Thr279=) | |
X | g.154969401A>C | CA519367261 | F8 | c.939T>G (p.Leu313=) c.*815T>G (n.*815T>G) c.834T>G (p.Leu278=) | |
X | g.154969401A>G | CA519367264 | F8 | c.939T>C (p.Leu313=) c.*815T>C (n.*815T>C) c.834T>C (p.Leu278=) | |
X | g.154969401A>T | CA519367266 | F8 | c.939T>A (p.Leu313=) c.*815T>A (n.*815T>A) c.834T>A (p.Leu278=) | |
X | g.154969403_154969406del | CA2695237445 | F8 | c.936_939del (p.Phe312LeufsTer7) c.*812_*815del (n.*812_*815del) c.831_834del (p.Phe277LeufsTer7) | |
X | g.154969402A>C | CA414917837 | F8 | c.938T>G (p.Leu313Arg) c.*814T>G (n.*814T>G) c.833T>G (p.Leu278Arg) | |
X | g.154969402A>G | CA414917839 | F8 | c.938T>C (p.Leu313Pro) c.*814T>C (n.*814T>C) c.833T>C (p.Leu278Pro) | |
X | g.154969402A>T | CA414917841 | F8 | c.938T>A (p.Leu313His) c.*814T>A (n.*814T>A) c.833T>A (p.Leu278His) | |
X | g.154969403G>A | CA414917843 | F8 | c.937C>T (p.Leu313Phe) c.*813C>T (n.*813C>T) c.832C>T (p.Leu278Phe) | COSMIC COSMIC |
X | g.154969403G>C | CA414917845 | F8 | c.937C>G (p.Leu313Val) c.*813C>G (n.*813C>G) c.832C>G (p.Leu278Val) | |
X | g.154969403G>T | CA414917847 | F8 | c.937C>A (p.Leu313Ile) c.*813C>A (n.*813C>A) c.832C>A (p.Leu278Ile) | |
X | g.154969404G>A | CA519367272 | F8 | c.936C>T (p.Phe312=) c.*812C>T (n.*812C>T) c.831C>T (p.Phe277=) | |
X | g.154969404G>C | CA414917848 | F8 | c.936C>G (p.Phe312Leu) c.*812C>G (n.*812C>G) c.831C>G (p.Phe277Leu) | |
X | g.154969404G>T | CA414917850 | F8 | c.936C>A (p.Phe312Leu) c.*812C>A (n.*812C>A) c.831C>A (p.Phe277Leu) | |
X | g.154969405A= | CA2466848988 | F8 | c.935T= (p.Phe312=) c.*811T= (n.*811T=) c.830T= (p.Phe277=) | |
X | g.154969405A>C | CA414917855 | F8 | c.935T>G (p.Phe312Cys) c.*811T>G (n.*811T>G) c.830T>G (p.Phe277Cys) | |
X | g.154969405A>G | CA255083 | F8 | c.935T>C (p.Phe312Ser) c.*811T>C (n.*811T>C) c.830T>C (p.Phe277Ser) | ClinVar dbSNP gnomAD v4 |
X | g.154969405A>T | CA414917852 | F8 | c.935T>A (p.Phe312Tyr) c.*811T>A (n.*811T>A) c.830T>A (p.Phe277Tyr) | |
X | g.154969407del | CA2695237448 | F8 | c.935del (p.Phe312SerfsTer8) c.*811del (n.*811del) c.830del (p.Phe277SerfsTer8) | |
X | g.154969406_154969407del | CA2695237449 | F8 | c.934_935del (p.Phe312ProfsTer25) c.*810_*811del (n.*810_*811del) c.829_830del (p.Phe277ProfsTer25) | |
X | g.154969406A>C | CA414917856 | F8 | c.934T>G (p.Phe312Val) c.*810T>G (n.*810T>G) c.829T>G (p.Phe277Val) | |
X | g.154969406A>G | CA414917857 | F8 | c.934T>C (p.Phe312Leu) c.*810T>C (n.*810T>C) c.829T>C (p.Phe277Leu) | |
X | g.154969406A>T | CA414917858 | F8 | c.934T>A (p.Phe312Ile) c.*810T>A (n.*810T>A) c.829T>A (p.Phe277Ile) | |
X | g.154969407A= | CA2466848989 | F8 | c.933T= (p.Thr311=) c.*809T= (n.*809T=) c.828T= (p.Thr276=) | |
X | g.154969407A>C | CA519367289 | F8 | c.933T>G (p.Thr311=) c.*809T>G (n.*809T>G) c.828T>G (p.Thr276=) | |
X | g.154969407A>G | CA519367291 | F8 | c.933T>C (p.Thr311=) c.*809T>C (n.*809T>C) c.828T>C (p.Thr276=) | gnomAD v4 |
X | g.154969407A>T | CA10568524 | F8 | c.933T>A (p.Thr311=) c.*809T>A (n.*809T>A) c.828T>A (p.Thr276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154969408G>A | CA414917860 | F8 | c.932C>T (p.Thr311Ile) c.*808C>T (n.*808C>T) c.827C>T (p.Thr276Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969408G>C | CA414917862 | F8 | c.932C>G (p.Thr311Ser) c.*808C>G (n.*808C>G) c.827C>G (p.Thr276Ser) | |
X | g.154969408G= | CA2466848990 | F8 | c.932C= (p.Thr311=) c.*808C= (n.*808C=) c.827C= (p.Thr276=) | |
X | g.154969408G>T | CA414917865 | F8 | c.932C>A (p.Thr311Asn) c.*808C>A (n.*808C>A) c.827C>A (p.Thr276Asn) | |
X | g.154969409T>A | CA414917868 | F8 | c.931A>T (p.Thr311Ser) c.*807A>T (n.*807A>T) c.826A>T (p.Thr276Ser) | |
X | g.154969409T>C | CA414917870 | F8 | c.931A>G (p.Thr311Ala) c.*807A>G (n.*807A>G) c.826A>G (p.Thr276Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969409T>G | CA414917872 | F8 | c.931A>C (p.Thr311Pro) c.*807A>C (n.*807A>C) c.826A>C (p.Thr276Pro) | |
X | g.154969409T= | CA2466848991 | F8 | c.931A= (p.Thr311=) c.*807A= (n.*807A=) c.826A= (p.Thr276=) | |
X | g.154969410T>A | CA519367301 | F8 | c.930A>T (p.Ile310=) c.*806A>T (n.*806A>T) c.825A>T (p.Ile275=) | |
X | g.154969410T>C | CA414917874 | F8 | c.930A>G (p.Ile310Met) c.*806A>G (n.*806A>G) c.825A>G (p.Ile275Met) | COSMIC COSMIC |
X | g.154969410T>G | CA519367305 | F8 | c.930A>C (p.Ile310=) c.*806A>C (n.*806A>C) c.825A>C (p.Ile275=) | |
X | g.154969411A>C | CA414917878 | F8 | c.929T>G (p.Ile310Arg) c.*805T>G (n.*805T>G) c.824T>G (p.Ile275Arg) | |
X | g.154969411A>G | CA414917877 | F8 | c.929T>C (p.Ile310Thr) c.*805T>C (n.*805T>C) c.824T>C (p.Ile275Thr) | |
X | g.154969411A>T | CA414917876 | F8 | c.929T>A (p.Ile310Lys) c.*805T>A (n.*805T>A) c.824T>A (p.Ile275Lys) | |
X | g.154969412T>A | CA414917880 | F8 | c.928A>T (p.Ile310Leu) c.*804A>T (n.*804A>T) c.823A>T (p.Ile275Leu) | |
X | g.154969412T>C | CA414917882 | F8 | c.928A>G (p.Ile310Val) c.*804A>G (n.*804A>G) c.823A>G (p.Ile275Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154969412T>G | CA414917883 | F8 | c.928A>C (p.Ile310Leu) c.*804A>C (n.*804A>C) c.823A>C (p.Ile275Leu) | |
X | g.154969412T= | CA2466848992 | F8 | c.928A= (p.Ile310=) c.*804A= (n.*804A=) c.823A= (p.Ile275=) | |
X | g.154969413T>A | CA519367322 | F8 | c.927A>T (p.Pro309=) c.*803A>T (n.*803A>T) c.822A>T (p.Pro274=) | |
X | g.154969413T>C | CA519367320 | F8 | c.927A>G (p.Pro309=) c.*803A>G (n.*803A>G) c.822A>G (p.Pro274=) | |
X | g.154969413T>G | CA519367315 | F8 | c.927A>C (p.Pro309=) c.*803A>C (n.*803A>C) c.822A>C (p.Pro274=) | |
X | g.154969414G>A | CA414917885 | F8 | c.926C>T (p.Pro309Leu) c.*802C>T (n.*802C>T) c.821C>T (p.Pro274Leu) | ClinVar dbSNP |
X | g.154969414G>C | CA414917887 | F8 | c.926C>G (p.Pro309Arg) c.*802C>G (n.*802C>G) c.821C>G (p.Pro274Arg) | |
X | g.154969414G= | CA2466848993 | F8 | c.926C= (p.Pro309=) c.*802C= (n.*802C=) c.821C= (p.Pro274=) | |
X | g.154969414G>T | CA414917889 | F8 | c.926C>A (p.Pro309Gln) c.*802C>A (n.*802C>A) c.821C>A (p.Pro274Gln) | |
X | g.154969415del | CA2739149510 | F8 | c.926del (p.Pro309GlnfsTer2) c.*802del (n.*802del) c.821del (p.Pro274GlnfsTer2) | dbSNP |
X | g.154969415G>A | CA414917890 | F8 | c.925C>T (p.Pro309Ser) c.*801C>T (n.*801C>T) c.820C>T (p.Pro274Ser) | |
X | g.154969415G>C | CA414917892 | F8 | c.925C>G (p.Pro309Ala) c.*801C>G (n.*801C>G) c.820C>G (p.Pro274Ala) | |
X | g.154969415G>T | CA414917894 | F8 | c.925C>A (p.Pro309Thr) c.*801C>A (n.*801C>A) c.820C>A (p.Pro274Thr) | |
X | g.154969416C>A | CA519367331 | F8 | c.924G>T (p.Ser308=) c.*800G>T (n.*800G>T) c.819G>T (p.Ser273=) | |
X | g.154969416C= | CA2466848994 | F8 | c.924G= (p.Ser308=) c.*800G= (n.*800G=) c.819G= (p.Ser273=) | |
X | g.154969416C>G | CA519367333 | F8 | c.924G>C (p.Ser308=) c.*800G>C (n.*800G>C) c.819G>C (p.Ser273=) | gnomAD v4 |
X | g.154969416C>T | CA10568525 | F8 | c.924G>A (p.Ser308=) c.*800G>A (n.*800G>A) c.819G>A (p.Ser273=) | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
X | g.154969417G>A | CA255082 | F8 | c.923C>T (p.Ser308Leu) c.*799C>T (n.*799C>T) c.818C>T (p.Ser273Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154969417G>C | CA414917900 | F8 | c.923C>G (p.Ser308Trp) c.*799C>G (n.*799C>G) c.818C>G (p.Ser273Trp) | |
X | g.154969417G= | CA2466848995 | F8 | c.923C= (p.Ser308=) c.*799C= (n.*799C=) c.818C= (p.Ser273=) | |
X | g.154969417G>T | CA414917901 | F8 | c.923C>A (p.Ser308Ter) c.*799C>A (n.*799C>A) c.818C>A (p.Ser273Ter) | |
X | g.154969417_154969422delinsGAGATT | CA2466848996 | F8 | c.918_923delinsAATCTC (p.Glu306=) c.*794_*799delinsAATCTC (n.*794_*799delinsAATCTC) c.813_818delinsAATCTC (p.Glu271=) | |
X | g.154969418A>C | CA414917902 | F8 | c.922T>G (p.Ser308Ala) c.*798T>G (n.*798T>G) c.817T>G (p.Ser273Ala) | |
X | g.154969418A>G | CA414917906 | F8 | c.922T>C (p.Ser308Pro) c.*798T>C (n.*798T>C) c.817T>C (p.Ser273Pro) | |
X | g.154969418A>T | CA414917903 | F8 | c.922T>A (p.Ser308Thr) c.*798T>A (n.*798T>A) c.817T>A (p.Ser273Thr) | |
X | g.154969418_154969422del | CA2466848997 | F8 | c.918_922del (p.Glu306AspfsTer30) c.*794_*798del (n.*794_*798del) c.813_817del (p.Glu271AspfsTer30) | dbSNP |
X | g.154969419G>A | CA519367340 | F8 | c.921C>T (p.Ile307=) c.*797C>T (n.*797C>T) c.816C>T (p.Ile272=) | |
X | g.154969419G>C | CA414917908 | F8 | c.921C>G (p.Ile307Met) c.*797C>G (n.*797C>G) c.816C>G (p.Ile272Met) | |
X | g.154969419G>T | CA519367342 | F8 | c.921C>A (p.Ile307=) c.*797C>A (n.*797C>A) c.816C>A (p.Ile272=) | |
X | g.154969420A= | CA2466848998 | F8 | c.920T= (p.Ile307=) c.*796T= (n.*796T=) c.815T= (p.Ile272=) | |
X | g.154969420A>C | CA414917909 | F8 | c.920T>G (p.Ile307Ser) c.*796T>G (n.*796T>G) c.815T>G (p.Ile272Ser) | |
X | g.154969420A>G | CA414917910 | F8 | c.920T>C (p.Ile307Thr) c.*796T>C (n.*796T>C) c.815T>C (p.Ile272Thr) | dbSNP |
X | g.154969420A>T | CA414917911 | F8 | c.920T>A (p.Ile307Asn) c.*796T>A (n.*796T>A) c.815T>A (p.Ile272Asn) |