UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.149925854C>A | CA342274838 | SF3B4 | c.895G>T (p.Gly299Cys) | |
| 1 | g.149925854C>G | CA342274839 | SF3B4 | c.895G>C (p.Gly299Arg) | |
| 1 | g.149925854C>T | CA342274840 | SF3B4 | c.895G>A (p.Gly299Ser) | |
| 1 | g.149925855C>A | CA420671467 | SF3B4 | c.894G>T (p.Pro298=) | |
| 1 | g.149925855C= | CA2478942082 | SF3B4 | c.894G= (p.Pro298=) | |
| 1 | g.149925855C>G | CA420671468 | SF3B4 | c.894G>C (p.Pro298=) | |
| 1 | g.149925855C>T | CA1071452 | SF3B4 | c.894G>A (p.Pro298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925856G>A | CA29990498 | SF3B4 | c.893C>T (p.Pro298Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925856G>C | CA342274841 | SF3B4 | c.893C>G (p.Pro298Arg) | gnomAD v4 |
| 1 | g.149925856G= | CA2478942083 | SF3B4 | c.893C= (p.Pro298=) | |
| 1 | g.149925856G>T | CA342274842 | SF3B4 | c.893C>A (p.Pro298Gln) | |
| 1 | g.149925857G>A | CA342274843 | SF3B4 | c.892C>T (p.Pro298Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149925857G>C | CA342274844 | SF3B4 | c.892C>G (p.Pro298Ala) | gnomAD v4 |
| 1 | g.149925857G= | CA2478942084 | SF3B4 | c.892C= (p.Pro298=) | |
| 1 | g.149925857G>T | CA342274845 | SF3B4 | c.892C>A (p.Pro298Thr) | |
| 1 | g.149925858T>A | CA420671472 | SF3B4 | c.891A>T (p.Pro297=) | gnomAD v4 |
| 1 | g.149925858T>C | CA420671473 | SF3B4 | c.891A>G (p.Pro297=) | |
| 1 | g.149925858T>G | CA420671474 | SF3B4 | c.891A>C (p.Pro297=) | |
| 1 | g.149925859G>A | CA342274846 | SF3B4 | c.890C>T (p.Pro297Leu) | |
| 1 | g.149925859G>C | CA342274847 | SF3B4 | c.890C>G (p.Pro297Arg) | |
| 1 | g.149925859G>T | CA342274848 | SF3B4 | c.890C>A (p.Pro297Gln) | |
| 1 | g.149925861del | CA2739292022 | SF3B4 | c.890del (p.Pro297HisfsTer23) | |
| 1 | g.149925860G>A | CA342274850 | SF3B4 | c.889C>T (p.Pro297Ser) | |
| 1 | g.149925860G>C | CA342274851 | SF3B4 | c.889C>G (p.Pro297Ala) | |
| 1 | g.149925860G>T | CA342274849 | SF3B4 | c.889C>A (p.Pro297Thr) | |
| 1 | g.149925861G>A | CA420671476 | SF3B4 | c.888C>T (p.Phe296=) | |
| 1 | g.149925861G>C | CA342274853 | SF3B4 | c.888C>G (p.Phe296Leu) | |
| 1 | g.149925861G>T | CA342274852 | SF3B4 | c.888C>A (p.Phe296Leu) | |
| 1 | g.149925862A>C | CA342274855 | SF3B4 | c.887T>G (p.Phe296Cys) | |
| 1 | g.149925862A>G | CA342274854 | SF3B4 | c.887T>C (p.Phe296Ser) | |
| 1 | g.149925862A>T | CA342274856 | SF3B4 | c.887T>A (p.Phe296Tyr) | |
| 1 | g.149925863del | CA2573894267 | SF3B4 | c.887del (p.Phe296SerfsTer24) | |
| 1 | g.149925863A>C | CA342274857 | SF3B4 | c.886T>G (p.Phe296Val) | gnomAD v4 |
| 1 | g.149925863A>G | CA342274860 | SF3B4 | c.886T>C (p.Phe296Leu) | |
| 1 | g.149925863A>T | CA342274859 | SF3B4 | c.886T>A (p.Phe296Ile) | |
| 1 | g.149925864T>A | CA420671478 | SF3B4 | c.885A>T (p.Pro295=) | |
| 1 | g.149925864T>C | CA420671480 | SF3B4 | c.885A>G (p.Pro295=) | |
| 1 | g.149925864T>G | CA420671479 | SF3B4 | c.885A>C (p.Pro295=) | |
| 1 | g.149925865G>A | CA342274861 | SF3B4 | c.884C>T (p.Pro295Leu) | dbSNP |
| 1 | g.149925865G>C | CA342274863 | SF3B4 | c.884C>G (p.Pro295Arg) | |
| 1 | g.149925865G= | CA2478942085 | SF3B4 | c.884C= (p.Pro295=) | |
| 1 | g.149925865G>T | CA342274862 | SF3B4 | c.884C>A (p.Pro295Gln) | |
| 1 | g.149925866G>A | CA342274864 | SF3B4 | c.883C>T (p.Pro295Ser) | |
| 1 | g.149925866G>C | CA342274865 | SF3B4 | c.883C>G (p.Pro295Ala) | |
| 1 | g.149925866G>T | CA342274866 | SF3B4 | c.883C>A (p.Pro295Thr) | |
| 1 | g.149925867G>A | CA420671484 | SF3B4 | c.882C>T (p.His294=) | |
| 1 | g.149925867G>C | CA342274867 | SF3B4 | c.882C>G (p.His294Gln) | gnomAD v4 |
| 1 | g.149925867G>T | CA342274868 | SF3B4 | c.882C>A (p.His294Gln) | |
| 1 | g.149925868T>A | CA342274869 | SF3B4 | c.881A>T (p.His294Leu) | |
| 1 | g.149925868T>C | CA342274870 | SF3B4 | c.881A>G (p.His294Arg) | |
| 1 | g.149925868T>G | CA342274871 | SF3B4 | c.881A>C (p.His294Pro) | |
| 1 | g.149925869G>A | CA342274872 | SF3B4 | c.880C>T (p.His294Tyr) | |
| 1 | g.149925869G>C | CA342274873 | SF3B4 | c.880C>G (p.His294Asp) | |
| 1 | g.149925869G>T | CA342274874 | SF3B4 | c.880C>A (p.His294Asn) | |
| 1 | g.149925870A>C | CA420671487 | SF3B4 | c.879T>G (p.Pro293=) | |
| 1 | g.149925870A>G | CA420671489 | SF3B4 | c.879T>C (p.Pro293=) | |
| 1 | g.149925870A>T | CA420671490 | SF3B4 | c.879T>A (p.Pro293=) | |
| 1 | g.149925877_149925897del | CA2647757041 | SF3B4 | c.859_879del (p.Gly287_Pro293del) | gnomAD v4 |
| 1 | g.149925871G>A | CA342274877 | SF3B4 | c.878C>T (p.Pro293Leu) | gnomAD v4 |
| 1 | g.149925871G>C | CA342274876 | SF3B4 | c.878C>G (p.Pro293Arg) | |
| 1 | g.149925871G>T | CA342274875 | SF3B4 | c.878C>A (p.Pro293His) | |
| 1 | g.149925872G>A | CA1071453 | SF3B4 | c.877C>T (p.Pro293Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149925872G>C | CA342274878 | SF3B4 | c.877C>G (p.Pro293Ala) | |
| 1 | g.149925872G= | CA2478942086 | SF3B4 | c.877C= (p.Pro293=) | |
| 1 | g.149925872G>T | CA342274879 | SF3B4 | c.877C>A (p.Pro293Thr) | |
| 1 | g.149925873A= | CA2478942087 | SF3B4 | c.876T= (p.His292=) | |
| 1 | g.149925873A>C | CA342274880 | SF3B4 | c.876T>G (p.His292Gln) | |
| 1 | g.149925873A>G | CA420671496 | SF3B4 | c.876T>C (p.His292=) | dbSNP |
| 1 | g.149925873A>T | CA342274881 | SF3B4 | c.876T>A (p.His292Gln) | |
| 1 | g.149925874T>A | CA342274882 | SF3B4 | c.875A>T (p.His292Leu) | |
| 1 | g.149925874T>C | CA342274883 | SF3B4 | c.875A>G (p.His292Arg) | dbSNP gnomAD v4 |
| 1 | g.149925874T>G | CA342274884 | SF3B4 | c.875A>C (p.His292Pro) | |
| 1 | g.149925874T= | CA2478942088 | SF3B4 | c.875A= (p.His292=) | |
| 1 | g.149925875G>A | CA342274885 | SF3B4 | c.874C>T (p.His292Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925875G>C | CA342274886 | SF3B4 | c.874C>G (p.His292Asp) | |
| 1 | g.149925875G= | CA2478942089 | SF3B4 | c.874C= (p.His292=) | |
| 1 | g.149925875G>T | CA342274887 | SF3B4 | c.874C>A (p.His292Asn) | gnomAD v4 |
| 1 | g.149925876T>A | CA420671499 | SF3B4 | c.873A>T (p.Ser291=) | |
| 1 | g.149925876T>C | CA420671501 | SF3B4 | c.873A>G (p.Ser291=) | |
| 1 | g.149925876T>G | CA420671502 | SF3B4 | c.873A>C (p.Ser291=) | |
| 1 | g.149925877G>A | CA342274890 | SF3B4 | c.872C>T (p.Ser291Leu) | dbSNP |
| 1 | g.149925877G>C | CA342274889 | SF3B4 | c.872C>G (p.Ser291Ter) | |
| 1 | g.149925877G= | CA2478942090 | SF3B4 | c.872C= (p.Ser291=) | |
| 1 | g.149925877G>T | CA342274888 | SF3B4 | c.872C>A (p.Ser291Ter) | |
| 1 | g.149925878A>C | CA342274891 | SF3B4 | c.871T>G (p.Ser291Ala) | |
| 1 | g.149925878A>G | CA342274892 | SF3B4 | c.871T>C (p.Ser291Pro) | |
| 1 | g.149925878A>T | CA342274893 | SF3B4 | c.871T>A (p.Ser291Thr) | gnomAD v4 |
| 1 | g.149925879G>A | CA420671506 | SF3B4 | c.870C>T (p.His290=) | |
| 1 | g.149925879G>C | CA342274894 | SF3B4 | c.870C>G (p.His290Gln) | gnomAD v4 |
| 1 | g.149925879G>T | CA342274895 | SF3B4 | c.870C>A (p.His290Gln) | |
| 1 | g.149925880T>A | CA342274896 | SF3B4 | c.869A>T (p.His290Leu) | |
| 1 | g.149925880T>C | CA342274897 | SF3B4 | c.869A>G (p.His290Arg) | |
| 1 | g.149925880T>G | CA342274898 | SF3B4 | c.869A>C (p.His290Pro) | gnomAD v4 |
| 1 | g.149925881G>A | CA342274899 | SF3B4 | c.868C>T (p.His290Tyr) | |
| 1 | g.149925881G>C | CA342274900 | SF3B4 | c.868C>G (p.His290Asp) | |
| 1 | g.149925881G>T | CA342274901 | SF3B4 | c.868C>A (p.His290Asn) | |
| 1 | g.149925882T>A | CA420671511 | SF3B4 | c.867A>T (p.Gly289=) | |
| 1 | g.149925882T>C | CA420671512 | SF3B4 | c.867A>G (p.Gly289=) | gnomAD v4 |
| 1 | g.149925882T>G | CA420671513 | SF3B4 | c.867A>C (p.Gly289=) | |
| 1 | g.149925883C>A | CA342274904 | SF3B4 | c.866G>T (p.Gly289Val) | |
| 1 | g.149925883C>G | CA342274903 | SF3B4 | c.866G>C (p.Gly289Ala) | |
| 1 | g.149925883C>T | CA342274902 | SF3B4 | c.866G>A (p.Gly289Glu) | |
| 1 | g.149925884C>A | CA342274905 | SF3B4 | c.865G>T (p.Gly289Ter) | |
| 1 | g.149925884C= | CA2478942092 | SF3B4 | c.865G= (p.Gly289=) | |
| 1 | g.149925884C>G | CA342274906 | SF3B4 | c.865G>C (p.Gly289Arg) | |
| 1 | g.149925884C>T | CA342274907 | SF3B4 | c.865G>A (p.Gly289Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149925884_149925885delinsCA | CA2478942091 | SF3B4 | c.864_865delinsTG (p.His288=) | |
| 1 | g.149925885del | CA204937 | SF3B4 | c.864del (p.His288GlnfsTer?) | ClinVar dbSNP |
| 1 | g.149925885A>C | CA342274908 | SF3B4 | c.864T>G (p.His288Gln) | |
| 1 | g.149925885A>G | CA420671517 | SF3B4 | c.864T>C (p.His288=) | |
| 1 | g.149925885A>T | CA342274909 | SF3B4 | c.864T>A (p.His288Gln) | |
| 1 | g.149925886T>A | CA342274910 | SF3B4 | c.863A>T (p.His288Leu) | |
| 1 | g.149925886T>C | CA1071454 | SF3B4 | c.863A>G (p.His288Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925886T>G | CA342274911 | SF3B4 | c.863A>C (p.His288Pro) | |
| 1 | g.149925886T= | CA2478942093 | SF3B4 | c.863A= (p.His288=) | |
| 1 | g.149925887G>A | CA342274912 | SF3B4 | c.862C>T (p.His288Tyr) | |
| 1 | g.149925887G>C | CA342274913 | SF3B4 | c.862C>G (p.His288Asp) | gnomAD v4 |
| 1 | g.149925887G>T | CA342274914 | SF3B4 | c.862C>A (p.His288Asn) | |
| 1 | g.149925888A>C | CA420671522 | SF3B4 | c.861T>G (p.Gly287=) | |
| 1 | g.149925888A>G | CA420671520 | SF3B4 | c.861T>C (p.Gly287=) | |
| 1 | g.149925888A>T | CA420671521 | SF3B4 | c.861T>A (p.Gly287=) | |
| 1 | g.149925889C>A | CA342275677 | SF3B4 | c.860G>T (p.Gly287Val) | gnomAD v4 |
| 1 | g.149925889C>G | CA342275676 | SF3B4 | c.860G>C (p.Gly287Ala) | |
| 1 | g.149925889C>T | CA342275674 | SF3B4 | c.860G>A (p.Gly287Asp) | gnomAD v4 |
| 1 | g.149925890C>A | CA342275679 | SF3B4 | c.859G>T (p.Gly287Cys) | |
| 1 | g.149925890C>G | CA342275683 | SF3B4 | c.859G>C (p.Gly287Arg) | |
| 1 | g.149925890C>T | CA342275681 | SF3B4 | c.859G>A (p.Gly287Ser) | |
| 1 | g.149925891A= | CA2478942094 | SF3B4 | c.858T= (p.Pro286=) | |
| 1 | g.149925891A>C | CA420671631 | SF3B4 | c.858T>G (p.Pro286=) | |
| 1 | g.149925891A>G | CA420671632 | SF3B4 | c.858T>C (p.Pro286=) | dbSNP gnomAD v4 |
| 1 | g.149925891A>T | CA420671633 | SF3B4 | c.858T>A (p.Pro286=) | |
| 1 | g.149925892G>A | CA342275688 | SF3B4 | c.857C>T (p.Pro286Leu) | |
| 1 | g.149925892G>C | CA342275690 | SF3B4 | c.857C>G (p.Pro286Arg) | |
| 1 | g.149925892G>T | CA342275692 | SF3B4 | c.857C>A (p.Pro286His) | gnomAD v4 |
| 1 | g.149925893G>A | CA342275695 | SF3B4 | c.856C>T (p.Pro286Ser) | |
| 1 | g.149925893G>C | CA342275696 | SF3B4 | c.856C>G (p.Pro286Ala) | |
| 1 | g.149925893G>T | CA342275697 | SF3B4 | c.856C>A (p.Pro286Thr) | |
| 1 | g.149925894A>C | CA342275699 | SF3B4 | c.855T>G (p.His285Gln) | |
| 1 | g.149925894A>G | CA420671635 | SF3B4 | c.855T>C (p.His285=) | gnomAD v4 |
| 1 | g.149925894A>T | CA342275700 | SF3B4 | c.855T>A (p.His285Gln) | |
| 1 | g.149925895T>A | CA342275701 | SF3B4 | c.854A>T (p.His285Leu) | |
| 1 | g.149925895T>C | CA342275702 | SF3B4 | c.854A>G (p.His285Arg) | |
| 1 | g.149925895T>G | CA342275703 | SF3B4 | c.854A>C (p.His285Pro) | |
| 1 | g.149925896G>A | CA342275707 | SF3B4 | c.853C>T (p.His285Tyr) | |
| 1 | g.149925896G>C | CA342275706 | SF3B4 | c.853C>G (p.His285Asp) | |
| 1 | g.149925896G>T | CA342275704 | SF3B4 | c.853C>A (p.His285Asn) | gnomAD v4 |
| 1 | g.149925897T>A | CA420671639 | SF3B4 | c.852A>T (p.Gly284=) | |
| 1 | g.149925897T>C | CA420671640 | SF3B4 | c.852A>G (p.Gly284=) | |
| 1 | g.149925897T>G | CA420671641 | SF3B4 | c.852A>C (p.Gly284=) | |
| 1 | g.149925898C>A | CA342275709 | SF3B4 | c.851G>T (p.Gly284Val) | |
| 1 | g.149925898C>G | CA342275713 | SF3B4 | c.851G>C (p.Gly284Ala) | |
| 1 | g.149925898C>T | CA342275715 | SF3B4 | c.851G>A (p.Gly284Glu) | |
| 1 | g.149925899C>A | CA342275717 | SF3B4 | c.850G>T (p.Gly284Ter) | |
| 1 | g.149925899C>G | CA342275718 | SF3B4 | c.850G>C (p.Gly284Arg) | |
| 1 | g.149925899C>T | CA342275724 | SF3B4 | c.850G>A (p.Gly284Arg) | |
| 1 | g.149925900T>A | CA420671643 | SF3B4 | c.849A>T (p.Ala283=) | |
| 1 | g.149925900T>C | CA420671644 | SF3B4 | c.849A>G (p.Ala283=) | |
| 1 | g.149925900T>G | CA420671645 | SF3B4 | c.849A>C (p.Ala283=) | |
| 1 | g.149925901G>A | CA342275726 | SF3B4 | c.848C>T (p.Ala283Val) | |
| 1 | g.149925901G>C | CA342275728 | SF3B4 | c.848C>G (p.Ala283Gly) | |
| 1 | g.149925901G>T | CA342275730 | SF3B4 | c.848C>A (p.Ala283Glu) | |
| 1 | g.149925902C>A | CA342275732 | SF3B4 | c.847G>T (p.Ala283Ser) | |
| 1 | g.149925902C>G | CA342275734 | SF3B4 | c.847G>C (p.Ala283Pro) | |
| 1 | g.149925902C>T | CA342275736 | SF3B4 | c.847G>A (p.Ala283Thr) | gnomAD v4 |
| 1 | g.149925903C>A | CA420671648 | SF3B4 | c.846G>T (p.Gly282=) | |
| 1 | g.149925903C>G | CA420671652 | SF3B4 | c.846G>C (p.Gly282=) | |
| 1 | g.149925903C>T | CA420671650 | SF3B4 | c.846G>A (p.Gly282=) | |
| 1 | g.149925904C>A | CA342275742 | SF3B4 | c.845G>T (p.Gly282Val) | |
| 1 | g.149925904C>G | CA342275740 | SF3B4 | c.845G>C (p.Gly282Ala) | |
| 1 | g.149925904C>T | CA342275738 | SF3B4 | c.845G>A (p.Gly282Glu) | |
| 1 | g.149925905C>A | CA342275744 | SF3B4 | c.844G>T (p.Gly282Trp) | |
| 1 | g.149925905C>G | CA342275745 | SF3B4 | c.844G>C (p.Gly282Arg) | gnomAD v4 |
| 1 | g.149925905C>T | CA342275746 | SF3B4 | c.844G>A (p.Gly282Arg) | |
| 1 | g.149925906T>A | CA420671655 | SF3B4 | c.843A>T (p.Pro281=) | gnomAD v4 |
| 1 | g.149925906T>C | CA420671656 | SF3B4 | c.843A>G (p.Pro281=) | gnomAD v4 |
| 1 | g.149925906T>G | CA1071455 | SF3B4 | c.843A>C (p.Pro281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925906T= | CA2478942095 | SF3B4 | c.843A= (p.Pro281=) | |
| 1 | g.149925907G>A | CA342275749 | SF3B4 | c.842C>T (p.Pro281Leu) | |
| 1 | g.149925907G>C | CA342275750 | SF3B4 | c.842C>G (p.Pro281Arg) | |
| 1 | g.149925907G>T | CA342275752 | SF3B4 | c.842C>A (p.Pro281Gln) | |
| 1 | g.149925908G>A | CA342275763 | SF3B4 | c.841C>T (p.Pro281Ser) | |
| 1 | g.149925908G>C | CA342275764 | SF3B4 | c.841C>G (p.Pro281Ala) | |
| 1 | g.149925908G>T | CA342275766 | SF3B4 | c.841C>A (p.Pro281Thr) | |
| 1 | g.149925909G>A | CA420671658 | SF3B4 | c.840C>T (p.Thr280=) | |
| 1 | g.149925909G>C | CA29990521 | SF3B4 | c.840C>G (p.Thr280=) | dbSNP |
| 1 | g.149925909G= | CA2478942096 | SF3B4 | c.840C= (p.Thr280=) | |
| 1 | g.149925909G>T | CA29990535 | SF3B4 | c.840C>A (p.Thr280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925910G>A | CA342275776 | SF3B4 | c.839C>T (p.Thr280Ile) | gnomAD v4 |
| 1 | g.149925910G>C | CA342275774 | SF3B4 | c.839C>G (p.Thr280Ser) | |
| 1 | g.149925910G>T | CA342275771 | SF3B4 | c.839C>A (p.Thr280Asn) | gnomAD v4 |
| 1 | g.149925911T>A | CA342275778 | SF3B4 | c.838A>T (p.Thr280Ser) | |
| 1 | g.149925911T>C | CA342275780 | SF3B4 | c.838A>G (p.Thr280Ala) | |
| 1 | g.149925911T>G | CA342275781 | SF3B4 | c.838A>C (p.Thr280Pro) | |
| 1 | g.149925912T>A | CA420671660 | SF3B4 | c.837A>T (p.Gly279=) | |
| 1 | g.149925912T>C | CA420671662 | SF3B4 | c.837A>G (p.Gly279=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925912T>G | CA420671664 | SF3B4 | c.837A>C (p.Gly279=) | |
| 1 | g.149925912T= | CA2478942097 | SF3B4 | c.837A= (p.Gly279=) | |
| 1 | g.149925913C>A | CA342275785 | SF3B4 | c.836G>T (p.Gly279Val) | |
| 1 | g.149925913C>G | CA342275787 | SF3B4 | c.836G>C (p.Gly279Ala) | |
| 1 | g.149925913C>T | CA342275789 | SF3B4 | c.836G>A (p.Gly279Glu) | |
| 1 | g.149925913_149925914insATACCCC | CA204938 | SF3B4 | c.836_837insGGGTATG (p.Thr280GlyfsTer?) | ClinVar dbSNP |
| 1 | g.149925914C>A | CA342275792 | SF3B4 | c.835G>T (p.Gly279Ter) | |
| 1 | g.149925914C>G | CA342275794 | SF3B4 | c.835G>C (p.Gly279Arg) | |
| 1 | g.149925914C>T | CA342275795 | SF3B4 | c.835G>A (p.Gly279Arg) | |
| 1 | g.149925915T>A | CA420671679 | SF3B4 | c.834A>T (p.Ala278=) | |
| 1 | g.149925915T>C | CA420671680 | SF3B4 | c.834A>G (p.Ala278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925915T>G | CA420671676 | SF3B4 | c.834A>C (p.Ala278=) | |
| 1 | g.149925915T= | CA2478942098 | SF3B4 | c.834A= (p.Ala278=) | |
| 1 | g.149925916G>A | CA342275798 | SF3B4 | c.833C>T (p.Ala278Val) | |
| 1 | g.149925916G>C | CA342275799 | SF3B4 | c.833C>G (p.Ala278Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925916G= | CA2478942099 | SF3B4 | c.833C= (p.Ala278=) | |
| 1 | g.149925916G>T | CA342275801 | SF3B4 | c.833C>A (p.Ala278Glu) | |
| 1 | g.149925917C>A | CA342275807 | SF3B4 | c.832G>T (p.Ala278Ser) | gnomAD v4 |
| 1 | g.149925917C>G | CA342275805 | SF3B4 | c.832G>C (p.Ala278Pro) | |
| 1 | g.149925917C>T | CA342275804 | SF3B4 | c.832G>A (p.Ala278Thr) | gnomAD v4 |
| 1 | g.149925918C>A | CA420671689 | SF3B4 | c.831G>T (p.Ser277=) | |
| 1 | g.149925918C= | CA2478942100 | SF3B4 | c.831G= (p.Ser277=) | |
| 1 | g.149925918C>G | CA420671690 | SF3B4 | c.831G>C (p.Ser277=) | |
| 1 | g.149925918C>T | CA1071456 | SF3B4 | c.831G>A (p.Ser277=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.149925919G>A | CA342275810 | SF3B4 | c.830C>T (p.Ser277Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149925919G>C | CA342275811 | SF3B4 | c.830C>G (p.Ser277Trp) | |
| 1 | g.149925919G= | CA2478942101 | SF3B4 | c.830C= (p.Ser277=) | |
| 1 | g.149925919G>T | CA342275812 | SF3B4 | c.830C>A (p.Ser277Ter) | |
| 1 | g.149925920_149925922dup | CA2647757042 | SF3B4 | c.828_830dup (p.Ser277_Ala278insSer) | gnomAD v4 |
| 1 | g.149925920A>C | CA342275815 | SF3B4 | c.829T>G (p.Ser277Ala) | |
| 1 | g.149925920A>G | CA342275816 | SF3B4 | c.829T>C (p.Ser277Pro) | |
| 1 | g.149925920A>T | CA342275818 | SF3B4 | c.829T>A (p.Ser277Thr) | |
| 1 | g.149925921T>A | CA420671697 | SF3B4 | c.828A>T (p.Pro276=) | gnomAD v4 |
| 1 | g.149925921T>C | CA420671701 | SF3B4 | c.828A>G (p.Pro276=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925921T>G | CA1071457 | SF3B4 | c.828A>C (p.Pro276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149925921T= | CA2478942103 | SF3B4 | c.828A= (p.Pro276=) | |
| 1 | g.149925921_149925924delinsTGGG | CA2478942102 | SF3B4 | c.825_828delinsCCCA (p.Pro275=) | |
| 1 | g.149925922G>A | CA342275822 | SF3B4 | c.827C>T (p.Pro276Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925922G>C | CA1071458 | SF3B4 | c.827C>G (p.Pro276Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149925922G= | CA2478942104 | SF3B4 | c.827C= (p.Pro276=) | |
| 1 | g.149925922G>T | CA342275824 | SF3B4 | c.827C>A (p.Pro276Gln) | dbSNP |
| 1 | g.149925927dup | CA204939 | SF3B4 | c.827dup (p.Ser277IlefsTer?) | ClinVar dbSNP |
| 1 | g.149925927del | CA645525965 | SF3B4 | c.827del (p.Pro276HisfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.149925925_149925927del | CA889161258 | SF3B4 | c.825_827del (p.Pro276del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149925923G>A | CA342275827 | SF3B4 | c.826C>T (p.Pro276Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925923G>C | CA342275828 | SF3B4 | c.826C>G (p.Pro276Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925923G= | CA2478942105 | SF3B4 | c.826C= (p.Pro276=) | |
| 1 | g.149925923G>T | CA342275829 | SF3B4 | c.826C>A (p.Pro276Thr) | |
| 1 | g.149925924G>A | CA420671710 | SF3B4 | c.825C>T (p.Pro275=) | dbSNP gnomAD v4 |
| 1 | g.149925924G>C | CA420671713 | SF3B4 | c.825C>G (p.Pro275=) | |
| 1 | g.149925924G= | CA2478942106 | SF3B4 | c.825C= (p.Pro275=) | |
| 1 | g.149925924G>T | CA420671711 | SF3B4 | c.825C>A (p.Pro275=) | |
| 1 | g.149925925G>A | CA342275836 | SF3B4 | c.824C>T (p.Pro275Leu) | |
| 1 | g.149925925G>C | CA342275834 | SF3B4 | c.824C>G (p.Pro275Arg) | |
| 1 | g.149925925G>T | CA342275832 | SF3B4 | c.824C>A (p.Pro275His) | |
| 1 | g.149925926G>A | CA342275838 | SF3B4 | c.823C>T (p.Pro275Ser) | |
| 1 | g.149925926G>C | CA342275839 | SF3B4 | c.823C>G (p.Pro275Ala) | |
| 1 | g.149925926G>T | CA342275841 | SF3B4 | c.823C>A (p.Pro275Thr) | |
| 1 | g.149925927G>A | CA29990587 | SF3B4 | c.822C>T (p.Gly274=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925927G>C | CA420671724 | SF3B4 | c.822C>G (p.Gly274=) | |
| 1 | g.149925927G= | CA2478942107 | SF3B4 | c.822C= (p.Gly274=) | |
| 1 | g.149925927G>T | CA420671726 | SF3B4 | c.822C>A (p.Gly274=) | |
| 1 | g.149925928C>A | CA342275843 | SF3B4 | c.821G>T (p.Gly274Val) | gnomAD v4 |
| 1 | g.149925928C>G | CA342275844 | SF3B4 | c.821G>C (p.Gly274Ala) | |
| 1 | g.149925928C>T | CA342275846 | SF3B4 | c.821G>A (p.Gly274Asp) | |
| 1 | g.149925929C>A | CA342275848 | SF3B4 | c.820G>T (p.Gly274Cys) | gnomAD v4 |
| 1 | g.149925929C>G | CA342275850 | SF3B4 | c.820G>C (p.Gly274Arg) | |
| 1 | g.149925929C>T | CA342275852 | SF3B4 | c.820G>A (p.Gly274Ser) | gnomAD v4 |
| 1 | g.149925930A>C | CA342275853 | SF3B4 | c.819T>G (p.His273Gln) | |
| 1 | g.149925930A>G | CA420671738 | SF3B4 | c.819T>C (p.His273=) | gnomAD v4 |
| 1 | g.149925930A>T | CA342275855 | SF3B4 | c.819T>A (p.His273Gln) | |
| 1 | g.149925931T>A | CA342275857 | SF3B4 | c.818A>T (p.His273Leu) | |
| 1 | g.149925931T>C | CA342275859 | SF3B4 | c.818A>G (p.His273Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149925931T>G | CA342275860 | SF3B4 | c.818A>C (p.His273Pro) | |
| 1 | g.149925931T= | CA2478942108 | SF3B4 | c.818A= (p.His273=) | |
| 1 | g.149925932del | CA2586967266 | SF3B4 | c.817del (p.His273MetfsTer?) | |
| 1 | g.149925932G>A | CA342275865 | SF3B4 | c.817C>T (p.His273Tyr) | |
| 1 | g.149925932G>C | CA342275867 | SF3B4 | c.817C>G (p.His273Asp) | |
| 1 | g.149925932G>T | CA342275864 | SF3B4 | c.817C>A (p.His273Asn) | |
| 1 | g.149925933T>A | CA420671752 | SF3B4 | c.816A>T (p.Gly272=) | |
| 1 | g.149925933T>C | CA420671758 | SF3B4 | c.816A>G (p.Gly272=) | dbSNP |
| 1 | g.149925933T>G | CA420671750 | SF3B4 | c.816A>C (p.Gly272=) | |
| 1 | g.149925933T= | CA2478942109 | SF3B4 | c.816A= (p.Gly272=) | |
| 1 | g.149925934C>A | CA342275869 | SF3B4 | c.815G>T (p.Gly272Val) | |
| 1 | g.149925934C>G | CA342275874 | SF3B4 | c.815G>C (p.Gly272Ala) | |
| 1 | g.149925934C>T | CA342275877 | SF3B4 | c.815G>A (p.Gly272Glu) | |
| 1 | g.149925935C>A | CA342275880 | SF3B4 | c.814G>T (p.Gly272Ter) | |
| 1 | g.149925935C>G | CA342275881 | SF3B4 | c.814G>C (p.Gly272Arg) | |
| 1 | g.149925935C>T | CA342275883 | SF3B4 | c.814G>A (p.Gly272Arg) | |
| 1 | g.149925936T>A | CA420671763 | SF3B4 | c.813A>T (p.Ala271=) | |
| 1 | g.149925936T>C | CA420671764 | SF3B4 | c.813A>G (p.Ala271=) | |
| 1 | g.149925936T>G | CA420671766 | SF3B4 | c.813A>C (p.Ala271=) | |
| 1 | g.149925937G>A | CA342275885 | SF3B4 | c.812C>T (p.Ala271Val) | gnomAD v4 |
| 1 | g.149925937G>C | CA342275886 | SF3B4 | c.812C>G (p.Ala271Gly) | |
| 1 | g.149925937G>T | CA342275888 | SF3B4 | c.812C>A (p.Ala271Glu) | |
| 1 | g.149925937_149925938delinsGC | CA2478942110 | SF3B4 | c.811_812delinsGC (p.Ala271=) | |
| 1 | g.149925938del | CA10602737 | SF3B4 | c.811del (p.Ala271GlnfsTer?) | ClinVar dbSNP |
| 1 | g.149925938C>A | CA342275890 | SF3B4 | c.811G>T (p.Ala271Ser) | gnomAD v4 |
| 1 | g.149925938C>G | CA342275892 | SF3B4 | c.811G>C (p.Ala271Pro) | |
| 1 | g.149925938C>T | CA342275894 | SF3B4 | c.811G>A (p.Ala271Thr) | gnomAD v4 |
| 1 | g.149925939A>C | CA420671777 | SF3B4 | c.810T>G (p.Ala270=) | gnomAD v4 |
| 1 | g.149925939A>G | CA420671780 | SF3B4 | c.810T>C (p.Ala270=) | gnomAD v4 |
| 1 | g.149925939A>T | CA420671783 | SF3B4 | c.810T>A (p.Ala270=) | |
| 1 | g.149925940G>A | CA342275902 | SF3B4 | c.809C>T (p.Ala270Val) | |
| 1 | g.149925940G>C | CA342275898 | SF3B4 | c.809C>G (p.Ala270Gly) | |
| 1 | g.149925940G>T | CA342275900 | SF3B4 | c.809C>A (p.Ala270Asp) | gnomAD v4 |
| 1 | g.149925941C>A | CA342275904 | SF3B4 | c.808G>T (p.Ala270Ser) | gnomAD v4 |
| 1 | g.149925941C>G | CA342275906 | SF3B4 | c.808G>C (p.Ala270Pro) | |
| 1 | g.149925941C>T | CA342275908 | SF3B4 | c.808G>A (p.Ala270Thr) | gnomAD v4 |
| 1 | g.149925942C>A | CA420671798 | SF3B4 | c.807G>T (p.Gly269=) | gnomAD v4 |
| 1 | g.149925942C>G | CA420671796 | SF3B4 | c.807G>C (p.Gly269=) | |
| 1 | g.149925942C>T | CA420671794 | SF3B4 | c.807G>A (p.Gly269=) | dbSNP |
| 1 | g.149925943C>A | CA342275910 | SF3B4 | c.806G>T (p.Gly269Val) | |
| 1 | g.149925943C>G | CA342275912 | SF3B4 | c.806G>C (p.Gly269Ala) | |
| 1 | g.149925943C>T | CA342275914 | SF3B4 | c.806G>A (p.Gly269Glu) | |
| 1 | g.149925944C>A | CA342275915 | SF3B4 | c.805G>T (p.Gly269Trp) | |
| 1 | g.149925944C= | CA2478942111 | SF3B4 | c.805G= (p.Gly269=) | |
| 1 | g.149925944C>G | CA29990590 | SF3B4 | c.805G>C (p.Gly269Arg) | dbSNP |
| 1 | g.149925944C>T | CA342275916 | SF3B4 | c.805G>A (p.Gly269Arg) | gnomAD v4 |
| 1 | g.149925945A= | CA2478942112 | SF3B4 | c.804T= (p.Pro268=) | |
| 1 | g.149925945A>C | CA29990596 | SF3B4 | c.804T>G (p.Pro268=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925945A>G | CA420671807 | SF3B4 | c.804T>C (p.Pro268=) | gnomAD v4 |
| 1 | g.149925945A>T | CA420671808 | SF3B4 | c.804T>A (p.Pro268=) | |
| 1 | g.149925946G>A | CA342275918 | SF3B4 | c.803C>T (p.Pro268Leu) | gnomAD v4 |
| 1 | g.149925946G>C | CA342275919 | SF3B4 | c.803C>G (p.Pro268Arg) | |
| 1 | g.149925946G>T | CA342275921 | SF3B4 | c.803C>A (p.Pro268His) | |
| 1 | g.149925947G>A | CA342275924 | SF3B4 | c.802C>T (p.Pro268Ser) | gnomAD v4 |
| 1 | g.149925947G>C | CA342275927 | SF3B4 | c.802C>G (p.Pro268Ala) | |
| 1 | g.149925947G>T | CA342275925 | SF3B4 | c.802C>A (p.Pro268Thr) | |
| 1 | g.149925948A>C | CA420671817 | SF3B4 | c.801T>G (p.Pro267=) | |
| 1 | g.149925948A>G | CA420671813 | SF3B4 | c.801T>C (p.Pro267=) | |
| 1 | g.149925948A>T | CA420671815 | SF3B4 | c.801T>A (p.Pro267=) | |
| 1 | g.149925949G>A | CA1071459 | SF3B4 | c.800C>T (p.Pro267Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149925949G>C | CA342275932 | SF3B4 | c.800C>G (p.Pro267Arg) | |
| 1 | g.149925949G= | CA2478942113 | SF3B4 | c.800C= (p.Pro267=) | |
| 1 | g.149925949G>T | CA342275930 | SF3B4 | c.800C>A (p.Pro267His) | gnomAD v4 |
| 1 | g.149925950G>A | CA342275934 | SF3B4 | c.799C>T (p.Pro267Ser) | |
| 1 | g.149925950G>C | CA342275937 | SF3B4 | c.799C>G (p.Pro267Ala) | |
| 1 | g.149925950G>T | CA342275939 | SF3B4 | c.799C>A (p.Pro267Thr) | gnomAD v4 |
| 1 | g.149925951C>A | CA342275941 | SF3B4 | c.798G>T (p.Met266Ile) | gnomAD v4 |
| 1 | g.149925951C>G | CA342275942 | SF3B4 | c.798G>C (p.Met266Ile) | gnomAD v4 |
| 1 | g.149925951C>T | CA342275944 | SF3B4 | c.798G>A (p.Met266Ile) | |
| 1 | g.149925952A= | CA2478942114 | SF3B4 | c.797T= (p.Met266=) | |
| 1 | g.149925952A>C | CA342275946 | SF3B4 | c.797T>G (p.Met266Arg) | |
| 1 | g.149925952A>G | CA342275948 | SF3B4 | c.797T>C (p.Met266Thr) | |
| 1 | g.149925952A>T | CA342275950 | SF3B4 | c.797T>A (p.Met266Lys) | |
| 1 | g.149925953T>A | CA342275954 | SF3B4 | c.796A>T (p.Met266Leu) | |
| 1 | g.149925953T>C | CA342275956 | SF3B4 | c.796A>G (p.Met266Val) | dbSNP gnomAD v4 |
| 1 | g.149925953T>G | CA342275958 | SF3B4 | c.796A>C (p.Met266Leu) | |
| 1 | g.149925953T= | CA2478942115 | SF3B4 | c.796A= (p.Met266=) | |
| 1 | g.149925953dup | CA204940 | SF3B4 | c.796dup (p.Met266AsnfsTer?) | ClinVar dbSNP |
| 1 | g.149925954A>C | CA420671845 | SF3B4 | c.795T>G (p.Pro265=) | |
| 1 | g.149925954A>G | CA420671846 | SF3B4 | c.795T>C (p.Pro265=) | gnomAD v4 |
| 1 | g.149925954A>T | CA420671849 | SF3B4 | c.795T>A (p.Pro265=) | gnomAD v4 |